Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99870369G>A | CA524878433 | AGL | c.665-31G>A (n.665-31G>A) n.876-31G>A c.617-31G>A (n.617-31G>A) c.614-31G>A (n.614-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870369G>C | CA2646734315 | AGL | c.665-31G>C (n.665-31G>C) n.876-31G>C c.617-31G>C (n.617-31G>C) c.614-31G>C (n.614-31G>C) | gnomAD v4 |
1 | g.99870369G= | CA1183922929 | AGL | c.665-31G= (n.665-31G=) n.876-31G= c.617-31G= (n.617-31G=) c.614-31G= (n.614-31G=) | |
1 | g.99870373C= | CA1183922933 | AGL | c.665-27C= (n.665-27C=) n.876-27C= c.617-27C= (n.617-27C=) c.614-27C= (n.614-27C=) | |
1 | g.99870373C>T | CA966238 | AGL | c.665-27C>T (n.665-27C>T) n.876-27C>T c.617-27C>T (n.617-27C>T) c.614-27C>T (n.614-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870375C>A | CA2646734322 | AGL | c.665-25C>A (n.665-25C>A) n.876-25C>A c.617-25C>A (n.617-25C>A) c.614-25C>A (n.614-25C>A) | gnomAD v4 |
1 | g.99870377T>C | CA1183922936 | AGL | c.665-23T>C (n.665-23T>C) n.876-23T>C c.617-23T>C (n.617-23T>C) c.614-23T>C (n.614-23T>C) | dbSNP gnomAD v4 |
1 | g.99870377T= | CA1183922935 | AGL | c.665-23T= (n.665-23T=) n.876-23T= c.617-23T= (n.617-23T=) c.614-23T= (n.614-23T=) | |
1 | g.99870378T>C | CA2646734326 | AGL | c.665-22T>C (n.665-22T>C) n.876-22T>C c.617-22T>C (n.617-22T>C) c.614-22T>C (n.614-22T>C) | gnomAD v4 |
1 | g.99870379_99870381del | CA2573132623 | AGL | c.665-21_665-19del (n.665-21_665-19del) n.876-21_876-19del c.617-21_617-19del (n.617-21_617-19del) c.614-21_614-19del (n.614-21_614-19del) | ClinVar dbSNP |
1 | g.99870380G>C | CA2646734329 | AGL | c.665-20G>C (n.665-20G>C) n.876-20G>C c.617-20G>C (n.617-20G>C) c.614-20G>C (n.614-20G>C) | gnomAD v4 |
1 | g.99870382G>A | CA2646734331 | AGL | c.665-18G>A (n.665-18G>A) n.876-18G>A c.617-18G>A (n.617-18G>A) c.614-18G>A (n.614-18G>A) | gnomAD v4 |
1 | g.99870383T>C | CA966239 | AGL | c.665-17T>C (n.665-17T>C) n.876-17T>C c.617-17T>C (n.617-17T>C) c.614-17T>C (n.614-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870383T= | CA1183922938 | AGL | c.665-17T= (n.665-17T=) n.876-17T= c.617-17T= (n.617-17T=) c.614-17T= (n.614-17T=) | |
1 | g.99870386C>T | CA2646734335 | AGL | c.665-14C>T (n.665-14C>T) n.876-14C>T c.617-14C>T (n.617-14C>T) c.614-14C>T (n.614-14C>T) | gnomAD v4 |
1 | g.99870387_99870388delinsCT | CA1183922941 | AGL | c.665-13_665-12delinsCT (n.665-13_665-12delinsCT) n.876-13_876-12delinsCT c.617-13_617-12delinsCT (n.617-13_617-12delinsCT) c.614-13_614-12delinsCT (n.614-13_614-12delinsCT) | |
1 | g.99870392dup | CA2580063379 | AGL | c.665-8dup (n.665-8dup) n.876-8dup c.617-8dup (n.617-8dup) c.614-8dup (n.614-8dup) | ClinVar gnomAD v4 |
1 | g.99870392del | CA966240 | AGL | c.665-8del (n.665-8del) n.876-8del c.617-8del (n.617-8del) c.614-8del (n.614-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870391T>C | CA966241 | AGL | c.665-9T>C (n.665-9T>C) n.876-9T>C c.617-9T>C (n.617-9T>C) c.614-9T>C (n.614-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870391T= | CA1143922499 | AGL | c.665-9T= (n.665-9T=) n.876-9T= c.617-9T= (n.617-9T=) c.614-9T= (n.614-9T=) | |
1 | g.99870392T>C | CA2646734346 | AGL | c.665-8T>C (n.665-8T>C) n.876-8T>C c.617-8T>C (n.617-8T>C) c.614-8T>C (n.614-8T>C) | gnomAD v4 |
1 | g.99870393C= | CA1183922950 | AGL | c.665-7C= (n.665-7C=) n.876-7C= c.617-7C= (n.617-7C=) c.614-7C= (n.614-7C=) | |
1 | g.99870393C>T | CA966242 | AGL | c.665-7C>T (n.665-7C>T) n.876-7C>T c.617-7C>T (n.617-7C>T) c.614-7C>T (n.614-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870393_99870394del | CA1004947133 | AGL | c.665-7_665-6del (n.665-7_665-6del) n.876-7_876-6del c.617-7_617-6del (n.617-7_617-6del) c.614-7_614-6del (n.614-7_614-6del) | gnomAD v4 |
1 | g.99870394C>A | CA27568565 | AGL | c.665-6C>A (n.665-6C>A) n.876-6C>A c.617-6C>A (n.617-6C>A) c.614-6C>A (n.614-6C>A) | dbSNP gnomAD v4 |
1 | g.99870394C= | CA1183922952 | AGL | c.665-6C= (n.665-6C=) n.876-6C= c.617-6C= (n.617-6C=) c.614-6C= (n.614-6C=) | |
1 | g.99870394C>T | CA1183922953 | AGL | c.665-6C>T (n.665-6C>T) n.876-6C>T c.617-6C>T (n.617-6C>T) c.614-6C>T (n.614-6C>T) | dbSNP gnomAD v4 |
1 | g.99870395T>A | CA2574444308 | AGL | c.665-5T>A (n.665-5T>A) n.876-5T>A c.617-5T>A (n.617-5T>A) c.614-5T>A (n.614-5T>A) | |
1 | g.99870397C= | CA1183922955 | AGL | c.665-3C= (n.665-3C=) n.876-3C= c.617-3C= (n.617-3C=) c.614-3C= (n.614-3C=) | |
1 | g.99870397C>T | CA966243 | AGL | c.665-3C>T (n.665-3C>T) n.876-3C>T c.617-3C>T (n.617-3C>T) c.614-3C>T (n.614-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870397_99870400del | CA2646734350 | AGL | c.665-3_665del n.876-3_876del c.617-3_617del c.614-3_614del | gnomAD v4 |
1 | g.99870397_99870403del | CA1004947139 | AGL | c.665-3_668del n.876-3_879del c.617-3_620del c.614-3_617del | |
1 | g.99870398A>C | CA341339006 | AGL | c.665-2A>C (n.665-2A>C) n.876-2A>C c.617-2A>C (n.617-2A>C) c.614-2A>C (n.614-2A>C) | |
1 | g.99870398A>G | CA341338999 | AGL | c.665-2A>G (n.665-2A>G) n.876-2A>G c.617-2A>G (n.617-2A>G) c.614-2A>G (n.614-2A>G) | ClinVar |
1 | g.99870398A>T | CA341338997 | AGL | c.665-2A>T (n.665-2A>T) n.876-2A>T c.617-2A>T (n.617-2A>T) c.614-2A>T (n.614-2A>T) | |
1 | g.99870399G>A | CA341339017 | AGL | c.665-1G>A (n.665-1G>A) n.876-1G>A c.617-1G>A (n.617-1G>A) c.614-1G>A (n.614-1G>A) | |
1 | g.99870399G>C | CA341339011 | AGL | c.665-1G>C (n.665-1G>C) n.876-1G>C c.617-1G>C (n.617-1G>C) c.614-1G>C (n.614-1G>C) | |
1 | g.99870399G>T | CA341339014 | AGL | c.665-1G>T (n.665-1G>T) n.876-1G>T c.617-1G>T (n.617-1G>T) c.614-1G>T (n.614-1G>T) | |
1 | g.99870400C>A | CA341339019 | AGL | c.665C>A (p.Ala222Asp) n.876C>A c.617C>A (p.Ala206Asp) c.614C>A (p.Ala205Asp) | |
1 | g.99870400C= | CA1183922959 | AGL | c.665C= (p.Ala222=) n.876C= c.617C= (p.Ala206=) c.614C= (p.Ala205=) | |
1 | g.99870400C>G | CA341339022 | AGL | c.665C>G (p.Ala222Gly) n.876C>G c.617C>G (p.Ala206Gly) c.614C>G (p.Ala205Gly) | |
1 | g.99870400C>T | CA966244 | AGL | c.665C>T (p.Ala222Val) n.876C>T c.617C>T (p.Ala206Val) c.614C>T (p.Ala205Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870401T>A | CA419096380 | AGL | c.666T>A (p.Ala222=) n.877T>A c.618T>A (p.Ala206=) c.615T>A (p.Ala205=) | |
1 | g.99870401T>C | CA419096381 | AGL | c.666T>C (p.Ala222=) n.877T>C c.618T>C (p.Ala206=) c.615T>C (p.Ala205=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870401T>G | CA419096382 | AGL | c.666T>G (p.Ala222=) n.877T>G c.618T>G (p.Ala206=) c.615T>G (p.Ala205=) | |
1 | g.99870401T= | CA1183922961 | AGL | c.666T= (p.Ala222=) n.877T= c.618T= (p.Ala206=) c.615T= (p.Ala205=) | |
1 | g.99870402del | CA2580063380 | AGL | c.667del (p.Ala223LeufsTer17) n.878del c.619del (p.Ala207LeufsTer17) c.616del (p.Ala206LeufsTer17) | ClinVar |
1 | g.99870402G>A | CA341339033 | AGL | c.667G>A (p.Ala223Thr) n.878G>A c.619G>A (p.Ala207Thr) c.616G>A (p.Ala206Thr) | gnomAD v4 |
1 | g.99870402G>C | CA341339034 | AGL | c.667G>C (p.Ala223Pro) n.878G>C c.619G>C (p.Ala207Pro) c.616G>C (p.Ala206Pro) | |
1 | g.99870402G>T | CA341339038 | AGL | c.667G>T (p.Ala223Ser) n.878G>T c.619G>T (p.Ala207Ser) c.616G>T (p.Ala206Ser) | gnomAD v4 |
1 | g.99870403C>A | CA341339039 | AGL | c.668C>A (p.Ala223Asp) n.879C>A c.620C>A (p.Ala207Asp) c.617C>A (p.Ala206Asp) | |
1 | g.99870403C= | CA1183922963 | AGL | c.668C= (p.Ala223=) n.879C= c.620C= (p.Ala207=) c.617C= (p.Ala206=) | |
1 | g.99870403C>G | CA341339040 | AGL | c.668C>G (p.Ala223Gly) n.879C>G c.620C>G (p.Ala207Gly) c.617C>G (p.Ala206Gly) | |
1 | g.99870403C>T | CA341339043 | AGL | c.668C>T (p.Ala223Val) n.879C>T c.620C>T (p.Ala207Val) c.617C>T (p.Ala206Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870404T>A | CA419096383 | AGL | c.669T>A (p.Ala223=) n.880T>A c.621T>A (p.Ala207=) c.618T>A (p.Ala206=) | |
1 | g.99870404T>C | CA966245 | AGL | c.669T>C (p.Ala223=) n.880T>C c.621T>C (p.Ala207=) c.618T>C (p.Ala206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870404T>G | CA419096384 | AGL | c.669T>G (p.Ala223=) n.880T>G c.621T>G (p.Ala207=) c.618T>G (p.Ala206=) | |
1 | g.99870404T= | CA1183922965 | AGL | c.669T= (p.Ala223=) n.880T= c.621T= (p.Ala207=) c.618T= (p.Ala206=) | |
1 | g.99870404_99870405insTTTTTTTTT | CA1004947146 | AGL | c.669_670insTTTTTTTTT (p.Ala223_Asn224insPhePhePhe) n.880_881insTTTTTTTTT c.621_622insTTTTTTTTT (p.Ala207_Asn208insPhePhePhe) c.618_619insTTTTTTTTT (p.Ala206_Asn207insPhePhePhe) | |
1 | g.99870405A= | CA1183922968 | AGL | c.670A= (p.Asn224=) n.881A= c.622A= (p.Asn208=) c.619A= (p.Asn207=) | |
1 | g.99870405A>C | CA341339069 | AGL | c.670A>C (p.Asn224His) n.881A>C c.622A>C (p.Asn208His) c.619A>C (p.Asn207His) | |
1 | g.99870405A>G | CA27568632 | AGL | c.670A>G (p.Asn224Asp) n.881A>G c.622A>G (p.Asn208Asp) c.619A>G (p.Asn207Asp) | dbSNP |
1 | g.99870405A>T | CA341339055 | AGL | c.670A>T (p.Asn224Tyr) n.881A>T c.622A>T (p.Asn208Tyr) c.619A>T (p.Asn207Tyr) | |
1 | g.99870406del | CA2499214913 | AGL | c.671del (p.Asn224IlefsTer16) n.882del c.623del (p.Asn208IlefsTer16) c.620del (p.Asn207IlefsTer16) | ClinVar dbSNP |
1 | g.99870406A= | CA1183922969 | AGL | c.671A= (p.Asn224=) n.882A= c.623A= (p.Asn208=) c.620A= (p.Asn207=) | |
1 | g.99870406A>C | CA341339075 | AGL | c.671A>C (p.Asn224Thr) n.882A>C c.623A>C (p.Asn208Thr) c.620A>C (p.Asn207Thr) | |
1 | g.99870406A>G | CA966246 | AGL | c.671A>G (p.Asn224Ser) n.882A>G c.623A>G (p.Asn208Ser) c.620A>G (p.Asn207Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870406A>T | CA341339087 | AGL | c.671A>T (p.Asn224Ile) n.882A>T c.623A>T (p.Asn208Ile) c.620A>T (p.Asn207Ile) | gnomAD v4 |
1 | g.99870407T>A | CA341339093 | AGL | c.672T>A (p.Asn224Lys) n.883T>A c.624T>A (p.Asn208Lys) c.621T>A (p.Asn207Lys) | |
1 | g.99870407T>C | CA419096385 | AGL | c.672T>C (p.Asn224=) n.883T>C c.624T>C (p.Asn208=) c.621T>C (p.Asn207=) | |
1 | g.99870407T>G | CA341339098 | AGL | c.672T>G (p.Asn224Lys) n.883T>G c.624T>G (p.Asn208Lys) c.621T>G (p.Asn207Lys) | |
1 | g.99870407dup | CA16040827 | AGL | c.672dup (p.Ser225Ter) n.883dup c.624dup (p.Ser209Ter) c.621dup (p.Ser208Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.99870408A>C | CA341339111 | AGL | c.673A>C (p.Ser225Arg) n.884A>C c.625A>C (p.Ser209Arg) c.622A>C (p.Ser208Arg) | |
1 | g.99870408A>G | CA341339106 | AGL | c.673A>G (p.Ser225Gly) n.884A>G c.625A>G (p.Ser209Gly) c.622A>G (p.Ser208Gly) | ClinVar gnomAD v4 |
1 | g.99870408A>T | CA341339108 | AGL | c.673A>T (p.Ser225Cys) n.884A>T c.625A>T (p.Ser209Cys) c.622A>T (p.Ser208Cys) | |
1 | g.99870409G>A | CA341339116 | AGL | c.674G>A (p.Ser225Asn) n.885G>A c.626G>A (p.Ser209Asn) c.623G>A (p.Ser208Asn) | |
1 | g.99870409G>C | CA341339130 | AGL | c.674G>C (p.Ser225Thr) n.885G>C c.626G>C (p.Ser209Thr) c.623G>C (p.Ser208Thr) | |
1 | g.99870409G>T | CA341339134 | AGL | c.674G>T (p.Ser225Ile) n.885G>T c.626G>T (p.Ser209Ile) c.623G>T (p.Ser208Ile) | |
1 | g.99870410T>A | CA341339140 | AGL | c.675T>A (p.Ser225Arg) n.886T>A c.627T>A (p.Ser209Arg) c.624T>A (p.Ser208Arg) | |
1 | g.99870410T>C | CA966247 | AGL | c.675T>C (p.Ser225=) n.886T>C c.627T>C (p.Ser209=) c.624T>C (p.Ser208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870410T>G | CA341339147 | AGL | c.675T>G (p.Ser225Arg) n.886T>G c.627T>G (p.Ser209Arg) c.624T>G (p.Ser208Arg) | |
1 | g.99870410T= | CA1142050438 | AGL | c.675T= (p.Ser225=) n.886T= c.627T= (p.Ser209=) c.624T= (p.Ser208=) | |
1 | g.99870411A= | CA1183922979 | AGL | c.676A= (p.Lys226=) n.887A= c.628A= (p.Lys210=) c.625A= (p.Lys209=) | |
1 | g.99870411A>C | CA341339157 | AGL | c.676A>C (p.Lys226Gln) n.887A>C c.628A>C (p.Lys210Gln) c.625A>C (p.Lys209Gln) | |
1 | g.99870411A>G | CA341339164 | AGL | c.676A>G (p.Lys226Glu) n.887A>G c.628A>G (p.Lys210Glu) c.625A>G (p.Lys209Glu) | dbSNP |
1 | g.99870411A>T | CA341339154 | AGL | c.676A>T (p.Lys226Ter) n.887A>T c.628A>T (p.Lys210Ter) c.625A>T (p.Lys209Ter) | |
1 | g.99870412A>C | CA341339171 | AGL | c.677A>C (p.Lys226Thr) n.888A>C c.629A>C (p.Lys210Thr) c.626A>C (p.Lys209Thr) | |
1 | g.99870412A>G | CA341339177 | AGL | c.677A>G (p.Lys226Arg) n.888A>G c.629A>G (p.Lys210Arg) c.626A>G (p.Lys209Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.99870412A>T | CA341339175 | AGL | c.677A>T (p.Lys226Ile) n.888A>T c.629A>T (p.Lys210Ile) c.626A>T (p.Lys209Ile) | |
1 | g.99870413A>C | CA341339182 | AGL | c.678A>C (p.Lys226Asn) n.889A>C c.630A>C (p.Lys210Asn) c.627A>C (p.Lys209Asn) | |
1 | g.99870413A>G | CA419096386 | AGL | c.678A>G (p.Lys226=) n.889A>G c.630A>G (p.Lys210=) c.627A>G (p.Lys209=) | |
1 | g.99870413A>T | CA341339184 | AGL | c.678A>T (p.Lys226Asn) n.889A>T c.630A>T (p.Lys210Asn) c.627A>T (p.Lys209Asn) | |
1 | g.99870414T>A | CA341339185 | AGL | c.679T>A (p.Trp227Arg) n.890T>A c.631T>A (p.Trp211Arg) c.628T>A (p.Trp210Arg) | |
1 | g.99870414T>C | CA341339186 | AGL | c.679T>C (p.Trp227Arg) n.890T>C c.631T>C (p.Trp211Arg) c.628T>C (p.Trp210Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870414T>G | CA341339188 | AGL | c.679T>G (p.Trp227Gly) n.890T>G c.631T>G (p.Trp211Gly) c.628T>G (p.Trp210Gly) | |
1 | g.99870414T= | CA1183922983 | AGL | c.679T= (p.Trp227=) n.890T= c.631T= (p.Trp211=) c.628T= (p.Trp210=) | |
1 | g.99870415G>A | CA341339191 | AGL | c.680G>A (p.Trp227Ter) n.891G>A c.632G>A (p.Trp211Ter) c.629G>A (p.Trp210Ter) | ClinVar dbSNP |
1 | g.99870415G>C | CA341339192 | AGL | c.680G>C (p.Trp227Ser) n.891G>C c.632G>C (p.Trp211Ser) c.629G>C (p.Trp210Ser) | |
1 | g.99870415G= | CA1142084231 | AGL | c.680G= (p.Trp227=) n.891G= c.632G= (p.Trp211=) c.629G= (p.Trp210=) | |
1 | g.99870415G>T | CA966248 | AGL | c.680G>T (p.Trp227Leu) n.891G>T c.632G>T (p.Trp211Leu) c.629G>T (p.Trp210Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870416G>A | CA966249 | AGL | c.681G>A (p.Trp227Ter) n.892G>A c.633G>A (p.Trp211Ter) c.630G>A (p.Trp210Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870416G>C | CA27568644 | AGL | c.681G>C (p.Trp227Cys) n.892G>C c.633G>C (p.Trp211Cys) c.630G>C (p.Trp210Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870416G= | CA1183922993 | AGL | c.681G= (p.Trp227=) n.892G= c.633G= (p.Trp211=) c.630G= (p.Trp210=) | |
1 | g.99870416G>T | CA341339201 | AGL | c.681G>T (p.Trp227Cys) n.892G>T c.633G>T (p.Trp211Cys) c.630G>T (p.Trp210Cys) | |
1 | g.99870417A>C | CA341339217 | AGL | c.682A>C (p.Ile228Leu) n.893A>C c.634A>C (p.Ile212Leu) c.631A>C (p.Ile211Leu) | |
1 | g.99870417A>G | CA341339215 | AGL | c.682A>G (p.Ile228Val) n.893A>G c.634A>G (p.Ile212Val) c.631A>G (p.Ile211Val) | |
1 | g.99870417A>T | CA341339208 | AGL | c.682A>T (p.Ile228Phe) n.893A>T c.634A>T (p.Ile212Phe) c.631A>T (p.Ile211Phe) | |
1 | g.99870418T>A | CA341339220 | AGL | c.683T>A (p.Ile228Asn) n.894T>A c.635T>A (p.Ile212Asn) c.632T>A (p.Ile211Asn) | |
1 | g.99870418T>C | CA341339222 | AGL | c.683T>C (p.Ile228Thr) n.894T>C c.635T>C (p.Ile212Thr) c.632T>C (p.Ile211Thr) | |
1 | g.99870418T>G | CA341339223 | AGL | c.683T>G (p.Ile228Ser) n.894T>G c.635T>G (p.Ile212Ser) c.632T>G (p.Ile211Ser) | |
1 | g.99870418T= | CA1183922997 | AGL | c.683T= (p.Ile228=) n.894T= c.635T= (p.Ile212=) c.632T= (p.Ile211=) | |
1 | g.99870419C>A | CA419096387 | AGL | c.684C>A (p.Ile228=) n.895C>A c.636C>A (p.Ile212=) c.633C>A (p.Ile211=) | |
1 | g.99870419C= | CA1183923002 | AGL | c.684C= (p.Ile228=) n.895C= c.636C= (p.Ile212=) c.633C= (p.Ile211=) | |
1 | g.99870419C>G | CA341339226 | AGL | c.684C>G (p.Ile228Met) n.895C>G c.636C>G (p.Ile212Met) c.633C>G (p.Ile211Met) | |
1 | g.99870419C>T | CA27568650 | AGL | c.684C>T (p.Ile228=) n.895C>T c.636C>T (p.Ile212=) c.633C>T (p.Ile211=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870420dup | CA1183923000 | AGL | c.685dup (p.Gln229ProfsTer9) n.896dup c.637dup (p.Gln213ProfsTer9) c.634dup (p.Gln212ProfsTer9) | dbSNP |
1 | g.99870420C>A | CA341339228 | AGL | c.685C>A (p.Gln229Lys) n.896C>A c.637C>A (p.Gln213Lys) c.634C>A (p.Gln212Lys) | |
1 | g.99870420C= | CA1183923006 | AGL | c.685C= (p.Gln229=) n.896C= c.637C= (p.Gln213=) c.634C= (p.Gln212=) | |
1 | g.99870420C>G | CA341339229 | AGL | c.685C>G (p.Gln229Glu) n.896C>G c.637C>G (p.Gln213Glu) c.634C>G (p.Gln212Glu) | gnomAD v4 |
1 | g.99870420C>T | CA27568658 | AGL | c.685C>T (p.Gln229Ter) n.896C>T c.637C>T (p.Gln213Ter) c.634C>T (p.Gln212Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870421A= | CA1140463176 | AGL | c.686A= (p.Gln229=) n.897A= c.638A= (p.Gln213=) c.635A= (p.Gln212=) | |
1 | g.99870421A>C | CA341339231 | AGL | c.686A>C (p.Gln229Pro) n.897A>C c.638A>C (p.Gln213Pro) c.635A>C (p.Gln212Pro) | |
1 | g.99870421A>G | CA966250 | AGL | c.686A>G (p.Gln229Arg) n.897A>G c.638A>G (p.Gln213Arg) c.635A>G (p.Gln212Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870421A>T | CA341339233 | AGL | c.686A>T (p.Gln229Leu) n.897A>T c.638A>T (p.Gln213Leu) c.635A>T (p.Gln212Leu) | |
1 | g.99870422G>A | CA419096388 | AGL | c.687G>A (p.Gln229=) n.898G>A c.639G>A (p.Gln213=) c.636G>A (p.Gln212=) | dbSNP |
1 | g.99870422G>C | CA341339235 | AGL | c.687G>C (p.Gln229His) n.898G>C c.639G>C (p.Gln213His) c.636G>C (p.Gln212His) | |
1 | g.99870422G= | CA1183923016 | AGL | c.687G= (p.Gln229=) n.898G= c.639G= (p.Gln213=) c.636G= (p.Gln212=) | |
1 | g.99870422G>T | CA341339237 | AGL | c.687G>T (p.Gln229His) n.898G>T c.639G>T (p.Gln213His) c.636G>T (p.Gln212His) | |
1 | g.99870423G>A | CA341339244 | AGL | c.688G>A (p.Glu230Lys) n.899G>A c.640G>A (p.Glu214Lys) c.637G>A (p.Glu213Lys) | dbSNP gnomAD v4 COSMIC |
1 | g.99870423G>C | CA341339242 | AGL | c.688G>C (p.Glu230Gln) n.899G>C c.640G>C (p.Glu214Gln) c.637G>C (p.Glu213Gln) | |
1 | g.99870423G= | CA1183923018 | AGL | c.688G= (p.Glu230=) n.899G= c.640G= (p.Glu214=) c.637G= (p.Glu213=) | |
1 | g.99870423G>T | CA341339241 | AGL | c.688G>T (p.Glu230Ter) n.899G>T c.640G>T (p.Glu214Ter) c.637G>T (p.Glu213Ter) | |
1 | g.99870424A= | CA1183923023 | AGL | c.689A= (p.Glu230=) n.900A= c.641A= (p.Glu214=) c.638A= (p.Glu213=) | |
1 | g.99870424A>C | CA341339247 | AGL | c.689A>C (p.Glu230Ala) n.900A>C c.641A>C (p.Glu214Ala) c.638A>C (p.Glu213Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870424A>G | CA341339250 | AGL | c.689A>G (p.Glu230Gly) n.900A>G c.641A>G (p.Glu214Gly) c.638A>G (p.Glu213Gly) | |
1 | g.99870424A>T | CA341339252 | AGL | c.689A>T (p.Glu230Val) n.900A>T c.641A>T (p.Glu214Val) c.638A>T (p.Glu213Val) | |
1 | g.99870425A>C | CA341339254 | AGL | c.690A>C (p.Glu230Asp) n.901A>C c.642A>C (p.Glu214Asp) c.639A>C (p.Glu213Asp) | |
1 | g.99870425A>G | CA419096389 | AGL | c.690A>G (p.Glu230=) n.901A>G c.642A>G (p.Glu214=) c.639A>G (p.Glu213=) | |
1 | g.99870425A>T | CA341339255 | AGL | c.690A>T (p.Glu230Asp) n.901A>T c.642A>T (p.Glu214Asp) c.639A>T (p.Glu213Asp) | |
1 | g.99870426C>A | CA341339257 | AGL | c.691C>A (p.His231Asn) n.902C>A c.643C>A (p.His215Asn) c.640C>A (p.His214Asn) | |
1 | g.99870426C= | CA1183923027 | AGL | c.691C= (p.His231=) n.902C= c.643C= (p.His215=) c.640C= (p.His214=) | |
1 | g.99870426C>G | CA341339260 | AGL | c.691C>G (p.His231Asp) n.902C>G c.643C>G (p.His215Asp) c.640C>G (p.His214Asp) | |
1 | g.99870426C>T | CA341339262 | AGL | c.691C>T (p.His231Tyr) n.902C>T c.643C>T (p.His215Tyr) c.640C>T (p.His214Tyr) | dbSNP |
1 | g.99870427A>C | CA341339265 | AGL | c.692A>C (p.His231Pro) n.903A>C c.644A>C (p.His215Pro) c.641A>C (p.His214Pro) | |
1 | g.99870427A>G | CA341339266 | AGL | c.692A>G (p.His231Arg) n.903A>G c.644A>G (p.His215Arg) c.641A>G (p.His214Arg) | |
1 | g.99870427A>T | CA341339269 | AGL | c.692A>T (p.His231Leu) n.903A>T c.644A>T (p.His215Leu) c.641A>T (p.His214Leu) | |
1 | g.99870428T>A | CA341339271 | AGL | c.693T>A (p.His231Gln) n.904T>A c.645T>A (p.His215Gln) c.642T>A (p.His214Gln) | |
1 | g.99870428T>C | CA419096390 | AGL | c.693T>C (p.His231=) n.904T>C c.645T>C (p.His215=) c.642T>C (p.His214=) | |
1 | g.99870428T>G | CA341339273 | AGL | c.693T>G (p.His231Gln) n.904T>G c.645T>G (p.His215Gln) c.642T>G (p.His214Gln) | |
1 | g.99870429C>A | CA341339278 | AGL | c.694C>A (p.Pro232Thr) n.905C>A c.646C>A (p.Pro216Thr) c.643C>A (p.Pro215Thr) | |
1 | g.99870429C>G | CA341339276 | AGL | c.694C>G (p.Pro232Ala) n.905C>G c.646C>G (p.Pro216Ala) c.643C>G (p.Pro215Ala) | gnomAD v4 |
1 | g.99870429C>T | CA341339277 | AGL | c.694C>T (p.Pro232Ser) n.905C>T c.646C>T (p.Pro216Ser) c.643C>T (p.Pro215Ser) | gnomAD v4 |
1 | g.99870430C>A | CA341339281 | AGL | c.695C>A (p.Pro232Gln) n.906C>A c.647C>A (p.Pro216Gln) c.644C>A (p.Pro215Gln) | |
1 | g.99870430C>G | CA341339283 | AGL | c.695C>G (p.Pro232Arg) n.906C>G c.647C>G (p.Pro216Arg) c.644C>G (p.Pro215Arg) | |
1 | g.99870430C>T | CA341339285 | AGL | c.695C>T (p.Pro232Leu) n.906C>T c.647C>T (p.Pro216Leu) c.644C>T (p.Pro215Leu) | |
1 | g.99870431A= | CA1183923032 | AGL | c.696A= (p.Pro232=) n.907A= c.648A= (p.Pro216=) c.645A= (p.Pro215=) | |
1 | g.99870431A>C | CA419096391 | AGL | c.696A>C (p.Pro232=) n.907A>C c.648A>C (p.Pro216=) c.645A>C (p.Pro215=) | |
1 | g.99870431A>G | CA419096392 | AGL | c.696A>G (p.Pro232=) n.907A>G c.648A>G (p.Pro216=) c.645A>G (p.Pro215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870431A>T | CA419096393 | AGL | c.696A>T (p.Pro232=) n.907A>T c.648A>T (p.Pro216=) c.645A>T (p.Pro215=) | |
1 | g.99870432G>A | CA341339289 | AGL | c.697G>A (p.Glu233Lys) n.908G>A c.649G>A (p.Glu217Lys) c.646G>A (p.Glu216Lys) | |
1 | g.99870432G>C | CA341339294 | AGL | c.697G>C (p.Glu233Gln) n.908G>C c.649G>C (p.Glu217Gln) c.646G>C (p.Glu216Gln) | |
1 | g.99870432G>T | CA341339297 | AGL | c.697G>T (p.Glu233Ter) n.908G>T c.649G>T (p.Glu217Ter) c.646G>T (p.Glu216Ter) | |
1 | g.99870433A>C | CA341339300 | AGL | c.698A>C (p.Glu233Ala) n.909A>C c.650A>C (p.Glu217Ala) c.647A>C (p.Glu216Ala) | |
1 | g.99870433A>G | CA341339301 | AGL | c.698A>G (p.Glu233Gly) n.909A>G c.650A>G (p.Glu217Gly) c.647A>G (p.Glu216Gly) | |
1 | g.99870433A>T | CA341339302 | AGL | c.698A>T (p.Glu233Val) n.909A>T c.650A>T (p.Glu217Val) c.647A>T (p.Glu216Val) | |
1 | g.99870434A>C | CA341339304 | AGL | c.699A>C (p.Glu233Asp) n.910A>C c.651A>C (p.Glu217Asp) c.648A>C (p.Glu216Asp) | |
1 | g.99870434A>G | CA419096394 | AGL | c.699A>G (p.Glu233=) n.910A>G c.651A>G (p.Glu217=) c.648A>G (p.Glu216=) | |
1 | g.99870434A>T | CA341339306 | AGL | c.699A>T (p.Glu233Asp) n.910A>T c.651A>T (p.Glu217Asp) c.648A>T (p.Glu216Asp) | |
1 | g.99870435T>A | CA341339316 | AGL | c.700T>A (p.Cys234Ser) n.911T>A c.652T>A (p.Cys218Ser) c.649T>A (p.Cys217Ser) | gnomAD v4 |
1 | g.99870435T>C | CA341339312 | AGL | c.700T>C (p.Cys234Arg) n.911T>C c.652T>C (p.Cys218Arg) c.649T>C (p.Cys217Arg) | dbSNP |
1 | g.99870435T>G | CA341339309 | AGL | c.700T>G (p.Cys234Gly) n.911T>G c.652T>G (p.Cys218Gly) c.649T>G (p.Cys217Gly) | |
1 | g.99870435T= | CA1183923038 | AGL | c.700T= (p.Cys234=) n.911T= c.652T= (p.Cys218=) c.649T= (p.Cys217=) | |
1 | g.99870436G>A | CA966251 | AGL | c.701G>A (p.Cys234Tyr) n.912G>A c.653G>A (p.Cys218Tyr) c.650G>A (p.Cys217Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870436G>C | CA341339326 | AGL | c.701G>C (p.Cys234Ser) n.912G>C c.653G>C (p.Cys218Ser) c.650G>C (p.Cys217Ser) | |
1 | g.99870436G= | CA1183923042 | AGL | c.701G= (p.Cys234=) n.912G= c.653G= (p.Cys218=) c.650G= (p.Cys217=) | |
1 | g.99870436G>T | CA341339323 | AGL | c.701G>T (p.Cys234Phe) n.912G>T c.653G>T (p.Cys218Phe) c.650G>T (p.Cys217Phe) | |
1 | g.99870437T>A | CA341339331 | AGL | c.702T>A (p.Cys234Ter) n.913T>A c.654T>A (p.Cys218Ter) c.651T>A (p.Cys217Ter) | |
1 | g.99870437T>C | CA419096396 | AGL | c.702T>C (p.Cys234=) n.913T>C c.654T>C (p.Cys218=) c.651T>C (p.Cys217=) | |
1 | g.99870437T>G | CA341339334 | AGL | c.702T>G (p.Cys234Trp) n.913T>G c.654T>G (p.Cys218Trp) c.651T>G (p.Cys217Trp) | |
1 | g.99870438G>A | CA341339340 | AGL | c.703G>A (p.Ala235Thr) n.914G>A c.655G>A (p.Ala219Thr) c.652G>A (p.Ala218Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.99870438G>C | CA341339341 | AGL | c.703G>C (p.Ala235Pro) n.914G>C c.655G>C (p.Ala219Pro) c.652G>C (p.Ala218Pro) | |
1 | g.99870438G= | CA1183923043 | AGL | c.703G= (p.Ala235=) n.914G= c.655G= (p.Ala219=) c.652G= (p.Ala218=) | |
1 | g.99870438G>T | CA341339345 | AGL | c.703G>T (p.Ala235Ser) n.914G>T c.655G>T (p.Ala219Ser) c.652G>T (p.Ala218Ser) | |
1 | g.99870439C>A | CA341339348 | AGL | c.704C>A (p.Ala235Asp) n.915C>A c.656C>A (p.Ala219Asp) c.653C>A (p.Ala218Asp) | |
1 | g.99870439C>G | CA341339351 | AGL | c.704C>G (p.Ala235Gly) n.915C>G c.656C>G (p.Ala219Gly) c.653C>G (p.Ala218Gly) | |
1 | g.99870439C>T | CA341339354 | AGL | c.704C>T (p.Ala235Val) n.915C>T c.656C>T (p.Ala219Val) c.653C>T (p.Ala218Val) | |
1 | g.99870440C>A | CA419096397 | AGL | c.705C>A (p.Ala235=) n.916C>A c.657C>A (p.Ala219=) c.654C>A (p.Ala218=) | |
1 | g.99870440C>G | CA419096398 | AGL | c.705C>G (p.Ala235=) n.916C>G c.657C>G (p.Ala219=) c.654C>G (p.Ala218=) | |
1 | g.99870440C>T | CA419096399 | AGL | c.705C>T (p.Ala235=) n.916C>T c.657C>T (p.Ala219=) c.654C>T (p.Ala218=) | gnomAD v4 |
1 | g.99870441T>A | CA341339357 | AGL | c.706T>A (p.Tyr236Asn) n.917T>A c.658T>A (p.Tyr220Asn) c.655T>A (p.Tyr219Asn) | |
1 | g.99870441T>C | CA341339360 | AGL | c.706T>C (p.Tyr236His) n.917T>C c.658T>C (p.Tyr220His) c.655T>C (p.Tyr219His) | |
1 | g.99870441T>G | CA341339365 | AGL | c.706T>G (p.Tyr236Asp) n.917T>G c.658T>G (p.Tyr220Asp) c.655T>G (p.Tyr219Asp) | |
1 | g.99870442A= | CA1183923047 | AGL | c.707A= (p.Tyr236=) n.918A= c.659A= (p.Tyr220=) c.656A= (p.Tyr219=) | |
1 | g.99870442A>C | CA341339369 | AGL | c.707A>C (p.Tyr236Ser) n.918A>C c.659A>C (p.Tyr220Ser) c.656A>C (p.Tyr219Ser) | |
1 | g.99870442A>G | CA341339373 | AGL | c.707A>G (p.Tyr236Cys) n.918A>G c.659A>G (p.Tyr220Cys) c.656A>G (p.Tyr219Cys) | dbSNP gnomAD v4 |
1 | g.99870442A>T | CA341339377 | AGL | c.707A>T (p.Tyr236Phe) n.918A>T c.659A>T (p.Tyr220Phe) c.656A>T (p.Tyr219Phe) | |
1 | g.99870443T>A | CA341339383 | AGL | c.708T>A (p.Tyr236Ter) n.919T>A c.660T>A (p.Tyr220Ter) c.657T>A (p.Tyr219Ter) | |
1 | g.99870443T>C | CA419096400 | AGL | c.708T>C (p.Tyr236=) n.919T>C c.660T>C (p.Tyr220=) c.657T>C (p.Tyr219=) | |
1 | g.99870443T>G | CA341339381 | AGL | c.708T>G (p.Tyr236Ter) n.919T>G c.660T>G (p.Tyr220Ter) c.657T>G (p.Tyr219Ter) | |
1 | g.99870444A>C | CA341339388 | AGL | c.709A>C (p.Asn237His) n.920A>C c.661A>C (p.Asn221His) c.658A>C (p.Asn220His) | |
1 | g.99870444A>G | CA341339390 | AGL | c.709A>G (p.Asn237Asp) n.920A>G c.661A>G (p.Asn221Asp) c.658A>G (p.Asn220Asp) | |
1 | g.99870444A>T | CA341339393 | AGL | c.709A>T (p.Asn237Tyr) n.920A>T c.661A>T (p.Asn221Tyr) c.658A>T (p.Asn220Tyr) | |
1 | g.99870445A= | CA1183923052 | AGL | c.710A= (p.Asn237=) n.921A= c.662A= (p.Asn221=) c.659A= (p.Asn220=) | |
1 | g.99870445A>C | CA341339397 | AGL | c.710A>C (p.Asn237Thr) n.921A>C c.662A>C (p.Asn221Thr) c.659A>C (p.Asn220Thr) | |
1 | g.99870445A>G | CA341339398 | AGL | c.710A>G (p.Asn237Ser) n.921A>G c.662A>G (p.Asn221Ser) c.659A>G (p.Asn220Ser) | ClinVar dbSNP |
1 | g.99870445A>T | CA341339402 | AGL | c.710A>T (p.Asn237Ile) n.921A>T c.662A>T (p.Asn221Ile) c.659A>T (p.Asn220Ile) | |
1 | g.99870446T>A | CA341339405 | AGL | c.711T>A (p.Asn237Lys) n.922T>A c.663T>A (p.Asn221Lys) c.660T>A (p.Asn220Lys) | |
1 | g.99870446T>C | CA419096401 | AGL | c.711T>C (p.Asn237=) n.922T>C c.663T>C (p.Asn221=) c.660T>C (p.Asn220=) | |
1 | g.99870446T>G | CA341339408 | AGL | c.711T>G (p.Asn237Lys) n.922T>G c.663T>G (p.Asn221Lys) c.660T>G (p.Asn220Lys) | |
1 | g.99870447C>A | CA341339411 | AGL | c.712C>A (p.Leu238Ile) n.923C>A c.664C>A (p.Leu222Ile) c.661C>A (p.Leu221Ile) | |
1 | g.99870447C>G | CA341339414 | AGL | c.712C>G (p.Leu238Val) n.923C>G c.664C>G (p.Leu222Val) c.661C>G (p.Leu221Val) | |
1 | g.99870447C>T | CA341339416 | AGL | c.712C>T (p.Leu238Phe) n.923C>T c.664C>T (p.Leu222Phe) c.661C>T (p.Leu221Phe) | |
1 | g.99870448T>A | CA341339435 | AGL | c.713T>A (p.Leu238His) n.924T>A c.665T>A (p.Leu222His) c.662T>A (p.Leu221His) | |
1 | g.99870448T>C | CA341339432 | AGL | c.713T>C (p.Leu238Pro) n.924T>C c.665T>C (p.Leu222Pro) c.662T>C (p.Leu221Pro) | |
1 | g.99870448T>G | CA341339428 | AGL | c.713T>G (p.Leu238Arg) n.924T>G c.665T>G (p.Leu222Arg) c.662T>G (p.Leu221Arg) | |
1 | g.99870449T>A | CA419096402 | AGL | c.714T>A (p.Leu238=) n.925T>A c.666T>A (p.Leu222=) c.663T>A (p.Leu221=) | dbSNP |
1 | g.99870449T>C | CA419096403 | AGL | c.714T>C (p.Leu238=) n.925T>C c.666T>C (p.Leu222=) c.663T>C (p.Leu221=) | gnomAD v4 |
1 | g.99870449T>G | CA419096404 | AGL | c.714T>G (p.Leu238=) n.925T>G c.666T>G (p.Leu222=) c.663T>G (p.Leu221=) | |
1 | g.99870449T= | CA1183923057 | AGL | c.714T= (p.Leu238=) n.925T= c.666T= (p.Leu222=) c.663T= (p.Leu221=) | |
1 | g.99870450G>A | CA341339439 | AGL | c.715G>A (p.Val239Met) n.926G>A c.667G>A (p.Val223Met) c.664G>A (p.Val222Met) | gnomAD v4 |
1 | g.99870450G>C | CA341339441 | AGL | c.715G>C (p.Val239Leu) n.926G>C c.667G>C (p.Val223Leu) c.664G>C (p.Val222Leu) | |
1 | g.99870450G>T | CA341339445 | AGL | c.715G>T (p.Val239Leu) n.926G>T c.667G>T (p.Val223Leu) c.664G>T (p.Val222Leu) | |
1 | g.99870451T>A | CA341339449 | AGL | c.716T>A (p.Val239Glu) n.927T>A c.668T>A (p.Val223Glu) c.665T>A (p.Val222Glu) | |
1 | g.99870451T>C | CA341339451 | AGL | c.716T>C (p.Val239Ala) n.927T>C c.668T>C (p.Val223Ala) c.665T>C (p.Val222Ala) | |
1 | g.99870451T>G | CA341339454 | AGL | c.716T>G (p.Val239Gly) n.927T>G c.668T>G (p.Val223Gly) c.665T>G (p.Val222Gly) | |
1 | g.99870451dup | CA2499214914 | AGL | c.716dup (p.Asn240GlufsTer21) n.927dup c.668dup (p.Asn224GlufsTer21) c.665dup (p.Asn223GlufsTer21) | ClinVar dbSNP gnomAD v4 |
1 | g.99870452G>A | CA419096405 | AGL | c.717G>A (p.Val239=) n.928G>A c.669G>A (p.Val223=) c.666G>A (p.Val222=) | |
1 | g.99870452G>C | CA419096406 | AGL | c.717G>C (p.Val239=) n.928G>C c.669G>C (p.Val223=) c.666G>C (p.Val222=) | |
1 | g.99870452G>T | CA419096407 | AGL | c.717G>T (p.Val239=) n.928G>T c.669G>T (p.Val223=) c.666G>T (p.Val222=) | gnomAD v4 |
1 | g.99870453A>C | CA341339455 | AGL | c.718A>C (p.Asn240His) n.929A>C c.670A>C (p.Asn224His) c.667A>C (p.Asn223His) | |
1 | g.99870453A>G | CA341339456 | AGL | c.718A>G (p.Asn240Asp) n.929A>G c.670A>G (p.Asn224Asp) c.667A>G (p.Asn223Asp) | |
1 | g.99870453A>T | CA341339457 | AGL | c.718A>T (p.Asn240Tyr) n.929A>T c.670A>T (p.Asn224Tyr) c.667A>T (p.Asn223Tyr) | |
1 | g.99870453_99870465del | CA2744755502 | AGL | c.718_730del (p.Asn240Ter) n.929_941del c.670_682del (p.Asn224Ter) c.667_679del (p.Asn223Ter) | |
1 | g.99870454A= | CA1183923060 | AGL | c.719A= (p.Asn240=) n.930A= c.671A= (p.Asn224=) c.668A= (p.Asn223=) | |
1 | g.99870454A>C | CA341339461 | AGL | c.719A>C (p.Asn240Thr) n.930A>C c.671A>C (p.Asn224Thr) c.668A>C (p.Asn223Thr) | |
1 | g.99870454A>G | CA341339463 | AGL | c.719A>G (p.Asn240Ser) n.930A>G c.671A>G (p.Asn224Ser) c.668A>G (p.Asn223Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870454A>T | CA341339468 | AGL | c.719A>T (p.Asn240Ile) n.930A>T c.671A>T (p.Asn224Ile) c.668A>T (p.Asn223Ile) | |
1 | g.99870455T>A | CA341339480 | AGL | c.720T>A (p.Asn240Lys) n.931T>A c.672T>A (p.Asn224Lys) c.669T>A (p.Asn223Lys) | |
1 | g.99870455T>C | CA966252 | AGL | c.720T>C (p.Asn240=) n.931T>C c.672T>C (p.Asn224=) c.669T>C (p.Asn223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870455T>G | CA341339478 | AGL | c.720T>G (p.Asn240Lys) n.931T>G c.672T>G (p.Asn224Lys) c.669T>G (p.Asn223Lys) | |
1 | g.99870455T= | CA1183923065 | AGL | c.720T= (p.Asn240=) n.931T= c.672T= (p.Asn224=) c.669T= (p.Asn223=) | |
1 | g.99870456T>A | CA341339489 | AGL | c.721T>A (p.Ser241Thr) n.932T>A c.673T>A (p.Ser225Thr) c.670T>A (p.Ser224Thr) | |
1 | g.99870456T>C | CA341339492 | AGL | c.721T>C (p.Ser241Pro) n.932T>C c.673T>C (p.Ser225Pro) c.670T>C (p.Ser224Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870456T>G | CA341339494 | AGL | c.721T>G (p.Ser241Ala) n.932T>G c.673T>G (p.Ser225Ala) c.670T>G (p.Ser224Ala) | |
1 | g.99870456T= | CA1183923069 | AGL | c.721T= (p.Ser241=) n.932T= c.673T= (p.Ser225=) c.670T= (p.Ser224=) | |
1 | g.99870457C>A | CA341339499 | AGL | c.722C>A (p.Ser241Tyr) n.933C>A c.674C>A (p.Ser225Tyr) c.671C>A (p.Ser224Tyr) | ClinVar dbSNP COSMIC COSMIC |
1 | g.99870457C>G | CA341339502 | AGL | c.722C>G (p.Ser241Cys) n.933C>G c.674C>G (p.Ser225Cys) c.671C>G (p.Ser224Cys) | |
1 | g.99870457C>T | CA341339505 | AGL | c.722C>T (p.Ser241Phe) n.933C>T c.674C>T (p.Ser225Phe) c.671C>T (p.Ser224Phe) | |
1 | g.99870458T>A | CA419096408 | AGL | c.723T>A (p.Ser241=) n.934T>A c.675T>A (p.Ser225=) c.672T>A (p.Ser224=) | |
1 | g.99870458T>C | CA419096410 | AGL | c.723T>C (p.Ser241=) n.934T>C c.675T>C (p.Ser225=) c.672T>C (p.Ser224=) | |
1 | g.99870458T>G | CA419096409 | AGL | c.723T>G (p.Ser241=) n.934T>G c.675T>G (p.Ser225=) c.672T>G (p.Ser224=) | |
1 | g.99870459C>A | CA341339509 | AGL | c.724C>A (p.Pro242Thr) n.935C>A c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) | |
1 | g.99870459C= | CA1144452612 | AGL | c.724C= (p.Pro242=) n.935C= c.676C= (p.Pro226=) c.673C= (p.Pro225=) | |
1 | g.99870459C>G | CA966253 | AGL | c.724C>G (p.Pro242Ala) n.935C>G c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870459C>T | CA341339515 | AGL | c.724C>T (p.Pro242Ser) n.935C>T c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | ClinVar dbSNP |
1 | g.99870460C>A | CA341339520 | AGL | c.725C>A (p.Pro242Gln) n.936C>A c.677C>A (p.Pro226Gln) c.674C>A (p.Pro225Gln) | |
1 | g.99870460C>G | CA341339523 | AGL | c.725C>G (p.Pro242Arg) n.936C>G c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
1 | g.99870460C>T | CA341339525 | AGL | c.725C>T (p.Pro242Leu) n.936C>T c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | |
1 | g.99870461A>C | CA419096411 | AGL | c.726A>C (p.Pro242=) n.937A>C c.678A>C (p.Pro226=) c.675A>C (p.Pro225=) | |
1 | g.99870461A>G | CA419096412 | AGL | c.726A>G (p.Pro242=) n.937A>G c.678A>G (p.Pro226=) c.675A>G (p.Pro225=) | ClinVar |
1 | g.99870461A>T | CA419096413 | AGL | c.726A>T (p.Pro242=) n.937A>T c.678A>T (p.Pro226=) c.675A>T (p.Pro225=) | |
1 | g.99870462C>A | CA341339536 | AGL | c.727C>A (p.His243Asn) n.938C>A c.679C>A (p.His227Asn) c.676C>A (p.His226Asn) | |
1 | g.99870462C>G | CA341339540 | AGL | c.727C>G (p.His243Asp) n.938C>G c.679C>G (p.His227Asp) c.676C>G (p.His226Asp) | |
1 | g.99870462C>T | CA341339533 | AGL | c.727C>T (p.His243Tyr) n.938C>T c.679C>T (p.His227Tyr) c.676C>T (p.His226Tyr) | |
1 | g.99870463A= | CA1183923073 | AGL | c.728A= (p.His243=) n.939A= c.680A= (p.His227=) c.677A= (p.His226=) | |
1 | g.99870463A>C | CA341339553 | AGL | c.728A>C (p.His243Pro) n.939A>C c.680A>C (p.His227Pro) c.677A>C (p.His226Pro) | |
1 | g.99870463A>G | CA341339546 | AGL | c.728A>G (p.His243Arg) n.939A>G c.680A>G (p.His227Arg) c.677A>G (p.His226Arg) | dbSNP |
1 | g.99870463A>T | CA341339549 | AGL | c.728A>T (p.His243Leu) n.939A>T c.680A>T (p.His227Leu) c.677A>T (p.His226Leu) | gnomAD v4 |
1 | g.99870464C>A | CA341339557 | AGL | c.729C>A (p.His243Gln) n.940C>A c.681C>A (p.His227Gln) c.678C>A (p.His226Gln) | |
1 | g.99870464C>G | CA341339560 | AGL | c.729C>G (p.His243Gln) n.940C>G c.681C>G (p.His227Gln) c.678C>G (p.His226Gln) | |
1 | g.99870464C>T | CA419096414 | AGL | c.729C>T (p.His243=) n.940C>T c.681C>T (p.His227=) c.678C>T (p.His226=) | ClinVar dbSNP gnomAD v4 |
1 | g.99870465T>A | CA341339565 | AGL | c.730T>A (p.Leu244Ile) n.941T>A c.682T>A (p.Leu228Ile) c.679T>A (p.Leu227Ile) | |
1 | g.99870465T>C | CA419096415 | AGL | c.730T>C (p.Leu244=) n.941T>C c.682T>C (p.Leu228=) c.679T>C (p.Leu227=) | |
1 | g.99870465T>G | CA341339568 | AGL | c.730T>G (p.Leu244Val) n.941T>G c.682T>G (p.Leu228Val) c.679T>G (p.Leu227Val) | |
1 | g.99870466T>A | CA341339580 | AGL | c.731T>A (p.Leu244Ter) n.942T>A c.683T>A (p.Leu228Ter) c.680T>A (p.Leu227Ter) | |
1 | g.99870466T>C | CA341339572 | AGL | c.731T>C (p.Leu244Ser) n.942T>C c.683T>C (p.Leu228Ser) c.680T>C (p.Leu227Ser) | |
1 | g.99870466T>G | CA341339575 | AGL | c.731T>G (p.Leu244Ter) n.942T>G c.683T>G (p.Leu228Ter) c.680T>G (p.Leu227Ter) | |
1 | g.99870467A>C | CA341339584 | AGL | c.732A>C (p.Leu244Phe) n.943A>C c.684A>C (p.Leu228Phe) c.681A>C (p.Leu227Phe) | |
1 | g.99870467A>G | CA419096416 | AGL | c.732A>G (p.Leu244=) n.943A>G c.684A>G (p.Leu228=) c.681A>G (p.Leu227=) | |
1 | g.99870467A>T | CA341339589 | AGL | c.732A>T (p.Leu244Phe) n.943A>T c.684A>T (p.Leu228Phe) c.681A>T (p.Leu227Phe) | |
1 | g.99870468A>C | CA341339593 | AGL | c.733A>C (p.Lys245Gln) n.944A>C c.685A>C (p.Lys229Gln) c.682A>C (p.Lys228Gln) | |
1 | g.99870468A>G | CA341339596 | AGL | c.733A>G (p.Lys245Glu) n.944A>G c.685A>G (p.Lys229Glu) c.682A>G (p.Lys228Glu) | |
1 | g.99870468A>T | CA341339599 | AGL | c.733A>T (p.Lys245Ter) n.944A>T c.685A>T (p.Lys229Ter) c.682A>T (p.Lys228Ter) | |
1 | g.99870468_99870469insG | CA2744755503 | AGL | c.733_734insG (p.Lys245ArgfsTer16) n.944_945insG c.685_686insG (p.Lys229ArgfsTer16) c.682_683insG (p.Lys228ArgfsTer16) | |
1 | g.99870469A>C | CA341339603 | AGL | c.734A>C (p.Lys245Thr) n.945A>C c.686A>C (p.Lys229Thr) c.683A>C (p.Lys228Thr) | |
1 | g.99870469A>G | CA341339613 | AGL | c.734A>G (p.Lys245Arg) n.945A>G c.686A>G (p.Lys229Arg) c.683A>G (p.Lys228Arg) | |
1 | g.99870469A>T | CA341339608 | AGL | c.734A>T (p.Lys245Ile) n.945A>T c.686A>T (p.Lys229Ile) c.683A>T (p.Lys228Ile) |