Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44352130G>A | CA290926750 | GRN | c.1295G>A (p.Arg432His) c.1136+378G>A (n.1136+378G>A) c.736G>A c.824G>A (p.Arg275His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352130G>C | CA399768782 | GRN | c.1295G>C (p.Arg432Pro) c.1136+378G>C (n.1136+378G>C) c.736G>C c.824G>C (p.Arg275Pro) | |
17 | g.44352130G= | CA2261354513 | GRN | c.1295G= (p.Arg432=) c.1136+378G= (n.1136+378G=) c.736G= c.824G= (p.Arg275=) | |
17 | g.44352130G>T | CA399768785 | GRN | c.1295G>T (p.Arg432Leu) c.1136+378G>T (n.1136+378G>T) c.736G>T c.824G>T (p.Arg275Leu) | gnomAD v4 |
17 | g.44352131C>A | CA500622249 | GRN | c.1296C>A (p.Arg432=) c.1136+379C>A (n.1136+379C>A) c.737C>A c.825C>A (p.Arg275=) | gnomAD v4 |
17 | g.44352131C>G | CA500622252 | GRN | c.1296C>G (p.Arg432=) c.1136+379C>G (n.1136+379C>G) c.737C>G c.825C>G (p.Arg275=) | |
17 | g.44352131C>T | CA500622250 | GRN | c.1296C>T (p.Arg432=) c.1136+379C>T (n.1136+379C>T) c.737C>T c.825C>T (p.Arg275=) | |
17 | g.44352132C>A | CA500622254 | GRN | c.1297C>A (p.Arg433=) c.1136+380C>A (n.1136+380C>A) c.738C>A c.826C>A (p.Arg276=) | gnomAD v4 |
17 | g.44352132C= | CA2261354514 | GRN | c.1297C= (p.Arg433=) c.1136+380C= (n.1136+380C=) c.738C= c.826C= (p.Arg276=) | |
17 | g.44352132C>G | CA399768787 | GRN | c.1297C>G (p.Arg433Gly) c.1136+380C>G (n.1136+380C>G) c.738C>G c.826C>G (p.Arg276Gly) | |
17 | g.44352132C>T | CA225336 | GRN | c.1297C>T (p.Arg433Trp) c.1136+380C>T (n.1136+380C>T) c.738C>T c.826C>T (p.Arg276Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352132_44352133delinsCG | CA2261354515 | GRN | c.1297_1298delinsCG (p.Arg433=) c.1136+380_1136+381delinsCG (n.1136+380_1136+381delinsCG) c.738_739delinsCG c.826_827delinsCG (p.Arg276=) | |
17 | g.44352133G>A | CA200816 | GRN | c.1298G>A (p.Arg433Gln) c.1136+381G>A (n.1136+381G>A) c.739G>A c.827G>A (p.Arg276Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352133G>C | CA399768792 | GRN | c.1298G>C (p.Arg433Pro) c.1136+381G>C (n.1136+381G>C) c.739G>C c.827G>C (p.Arg276Pro) | |
17 | g.44352133G= | CA2261354516 | GRN | c.1298G= (p.Arg433=) c.1136+381G= (n.1136+381G=) c.739G= c.827G= (p.Arg276=) | |
17 | g.44352133G>T | CA399768794 | GRN | c.1298G>T (p.Arg433Leu) c.1136+381G>T (n.1136+381G>T) c.739G>T c.827G>T (p.Arg276Leu) | |
17 | g.44352135del | CA626224248 | GRN | c.1300del (p.Ala434LeufsTer?) c.1136+383del (n.1136+383del) c.741del c.829del (p.Ala277LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352134G>A | CA500622257 | GRN | c.1299G>A (p.Arg433=) c.1136+382G>A (n.1136+382G>A) c.740G>A c.828G>A (p.Arg276=) | |
17 | g.44352134G>C | CA500622258 | GRN | c.1299G>C (p.Arg433=) c.1136+382G>C (n.1136+382G>C) c.740G>C c.828G>C (p.Arg276=) | dbSNP gnomAD v4 |
17 | g.44352134G= | CA2261354517 | GRN | c.1299G= (p.Arg433=) c.1136+382G= (n.1136+382G=) c.740G= c.828G= (p.Arg276=) | |
17 | g.44352134G>T | CA500622259 | GRN | c.1299G>T (p.Arg433=) c.1136+382G>T (n.1136+382G>T) c.740G>T c.828G>T (p.Arg276=) | |
17 | g.44352135G>A | CA399768796 | GRN | c.1300G>A (p.Ala434Thr) c.1136+383G>A (n.1136+383G>A) c.741G>A c.829G>A (p.Ala277Thr) | gnomAD v4 |
17 | g.44352135G>C | CA399768800 | GRN | c.1300G>C (p.Ala434Pro) c.1136+383G>C (n.1136+383G>C) c.741G>C c.829G>C (p.Ala277Pro) | |
17 | g.44352135G>T | CA399768798 | GRN | c.1300G>T (p.Ala434Ser) c.1136+383G>T (n.1136+383G>T) c.741G>T c.829G>T (p.Ala277Ser) | |
17 | g.44352136C>A | CA399768802 | GRN | c.1301C>A (p.Ala434Asp) c.1136+384C>A (n.1136+384C>A) c.742C>A c.830C>A (p.Ala277Asp) | |
17 | g.44352136C= | CA2261354518 | GRN | c.1301C= (p.Ala434=) c.1136+384C= (n.1136+384C=) c.742C= c.830C= (p.Ala277=) | |
17 | g.44352136C>G | CA399768804 | GRN | c.1301C>G (p.Ala434Gly) c.1136+384C>G (n.1136+384C>G) c.742C>G c.830C>G (p.Ala277Gly) | |
17 | g.44352136C>T | CA8602166 | GRN | c.1301C>T (p.Ala434Val) c.1136+384C>T (n.1136+384C>T) c.742C>T c.830C>T (p.Ala277Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352137T>A | CA500622262 | GRN | c.1302T>A (p.Ala434=) c.1136+385T>A (n.1136+385T>A) c.743T>A c.831T>A (p.Ala277=) | |
17 | g.44352137T>C | CA500622263 | GRN | c.1302T>C (p.Ala434=) c.1136+385T>C (n.1136+385T>C) c.743T>C c.831T>C (p.Ala277=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352137T>G | CA500622264 | GRN | c.1302T>G (p.Ala434=) c.1136+385T>G (n.1136+385T>G) c.743T>G c.831T>G (p.Ala277=) | |
17 | g.44352137T= | CA2261354519 | GRN | c.1302T= (p.Ala434=) c.1136+385T= (n.1136+385T=) c.743T= c.831T= (p.Ala277=) | |
17 | g.44352138T>A | CA399768805 | GRN | c.1303T>A (p.Ser435Thr) c.1136+386T>A (n.1136+386T>A) c.744T>A c.832T>A (p.Ser278Thr) | |
17 | g.44352138T>C | CA399768806 | GRN | c.1303T>C (p.Ser435Pro) c.1136+386T>C (n.1136+386T>C) c.744T>C c.832T>C (p.Ser278Pro) | |
17 | g.44352138T>G | CA399768808 | GRN | c.1303T>G (p.Ser435Ala) c.1136+386T>G (n.1136+386T>G) c.744T>G c.832T>G (p.Ser278Ala) | |
17 | g.44352139C>A | CA399768810 | GRN | c.1304C>A (p.Ser435Tyr) c.1136+387C>A (n.1136+387C>A) c.745C>A c.833C>A (p.Ser278Tyr) | |
17 | g.44352139C>G | CA399768812 | GRN | c.1304C>G (p.Ser435Cys) c.1136+387C>G (n.1136+387C>G) c.745C>G c.833C>G (p.Ser278Cys) | |
17 | g.44352139C>T | CA399768814 | GRN | c.1304C>T (p.Ser435Phe) c.1136+387C>T (n.1136+387C>T) c.745C>T c.833C>T (p.Ser278Phe) | COSMIC |
17 | g.44352140C>A | CA500622269 | GRN | c.1305C>A (p.Ser435=) c.1137-389C>A (n.1137-389C>A) c.746C>A c.834C>A (p.Ser278=) | |
17 | g.44352140C>G | CA500622270 | GRN | c.1305C>G (p.Ser435=) c.1137-389C>G (n.1137-389C>G) c.746C>G c.834C>G (p.Ser278=) | |
17 | g.44352140C>T | CA500622271 | GRN | c.1305C>T (p.Ser435=) c.1137-389C>T (n.1137-389C>T) c.746C>T c.834C>T (p.Ser278=) | |
17 | g.44352140_44352141del | CA2809588881 | GRN | c.1305_1306del (p.Leu436IlefsTer9) c.1137-389_1137-388del (n.1137-389_1137-388del) c.746_747del c.834_835del (p.Leu279IlefsTer9) | |
17 | g.44352141T>A | CA399768818 | GRN | c.1306T>A (p.Leu436Ile) c.1137-388T>A (n.1137-388T>A) c.747T>A c.835T>A (p.Leu279Ile) | |
17 | g.44352141T>C | CA500622275 | GRN | c.1306T>C (p.Leu436=) c.1137-388T>C (n.1137-388T>C) c.747T>C c.835T>C (p.Leu279=) | dbSNP |
17 | g.44352141T>G | CA399768821 | GRN | c.1306T>G (p.Leu436Val) c.1137-388T>G (n.1137-388T>G) c.747T>G c.835T>G (p.Leu279Val) | |
17 | g.44352142T>A | CA399768826 | GRN | c.1307T>A (p.Leu436Ter) c.1137-387T>A (n.1137-387T>A) c.748T>A c.836T>A (p.Leu279Ter) | |
17 | g.44352142T>C | CA399768829 | GRN | c.1307T>C (p.Leu436Ser) c.1137-387T>C (n.1137-387T>C) c.748T>C c.836T>C (p.Leu279Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44352142T>G | CA399768828 | GRN | c.1307T>G (p.Leu436Ter) c.1137-387T>G (n.1137-387T>G) c.748T>G c.836T>G (p.Leu279Ter) | |
17 | g.44352142T= | CA2261354520 | GRN | c.1307T= (p.Leu436=) c.1137-387T= (n.1137-387T=) c.748T= c.836T= (p.Leu279=) | |
17 | g.44352143A>C | CA399768833 | GRN | c.1308A>C (p.Leu436Phe) c.1137-386A>C (n.1137-386A>C) c.749A>C c.837A>C (p.Leu279Phe) | |
17 | g.44352143A>G | CA500622276 | GRN | c.1308A>G (p.Leu436=) c.1137-386A>G (n.1137-386A>G) c.749A>G c.837A>G (p.Leu279=) | |
17 | g.44352143A>T | CA399768836 | GRN | c.1308A>T (p.Leu436Phe) c.1137-386A>T (n.1137-386A>T) c.749A>T c.837A>T (p.Leu279Phe) | |
17 | g.44352144T>A | CA399768840 | GRN | c.1309T>A (p.Ser437Thr) c.1137-385T>A (n.1137-385T>A) c.750T>A c.838T>A (p.Ser280Thr) | |
17 | g.44352144T>C | CA399768843 | GRN | c.1309T>C (p.Ser437Pro) c.1137-385T>C (n.1137-385T>C) c.750T>C c.838T>C (p.Ser280Pro) | |
17 | g.44352144T>G | CA399768845 | GRN | c.1309T>G (p.Ser437Ala) c.1137-385T>G (n.1137-385T>G) c.750T>G c.838T>G (p.Ser280Ala) | |
17 | g.44352145C>A | CA399768849 | GRN | c.1310C>A (p.Ser437Tyr) c.1137-384C>A (n.1137-384C>A) c.751C>A c.839C>A (p.Ser280Tyr) | |
17 | g.44352145C>G | CA399768851 | GRN | c.1310C>G (p.Ser437Cys) c.1137-384C>G (n.1137-384C>G) c.751C>G c.839C>G (p.Ser280Cys) | |
17 | g.44352145C>T | CA399768853 | GRN | c.1310C>T (p.Ser437Phe) c.1137-384C>T (n.1137-384C>T) c.751C>T c.839C>T (p.Ser280Phe) | |
17 | g.44352146C>A | CA500622280 | GRN | c.1311C>A (p.Ser437=) c.1137-383C>A (n.1137-383C>A) c.752C>A c.840C>A (p.Ser280=) | |
17 | g.44352146C= | CA2261354521 | GRN | c.1311C= (p.Ser437=) c.1137-383C= (n.1137-383C=) c.752C= c.840C= (p.Ser280=) | |
17 | g.44352146C>G | CA8602167 | GRN | c.1311C>G (p.Ser437=) c.1137-383C>G (n.1137-383C>G) c.752C>G c.840C>G (p.Ser280=) | dbSNP ExAC gnomAD v2 |
17 | g.44352146C>T | CA290926758 | GRN | c.1311C>T (p.Ser437=) c.1137-383C>T (n.1137-383C>T) c.752C>T c.840C>T (p.Ser280=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352147C>A | CA399768862 | GRN | c.1312C>A (p.His438Asn) c.1137-382C>A (n.1137-382C>A) c.753C>A c.841C>A (p.His281Asn) | |
17 | g.44352147C>G | CA399768866 | GRN | c.1312C>G (p.His438Asp) c.1137-382C>G (n.1137-382C>G) c.753C>G c.841C>G (p.His281Asp) | |
17 | g.44352147C>T | CA399768868 | GRN | c.1312C>T (p.His438Tyr) c.1137-382C>T (n.1137-382C>T) c.753C>T c.841C>T (p.His281Tyr) | |
17 | g.44352148A>C | CA399768872 | GRN | c.1313A>C (p.His438Pro) c.1137-381A>C (n.1137-381A>C) c.754A>C c.842A>C (p.His281Pro) | |
17 | g.44352148A>G | CA399768877 | GRN | c.1313A>G (p.His438Arg) c.1137-381A>G (n.1137-381A>G) c.754A>G c.842A>G (p.His281Arg) | |
17 | g.44352148A>T | CA399768875 | GRN | c.1313A>T (p.His438Leu) c.1137-381A>T (n.1137-381A>T) c.754A>T c.842A>T (p.His281Leu) | |
17 | g.44352149C>A | CA399768880 | GRN | c.1314C>A (p.His438Gln) c.1137-380C>A (n.1137-380C>A) c.755C>A c.843C>A (p.His281Gln) | |
17 | g.44352149C= | CA2261354522 | GRN | c.1314C= (p.His438=) c.1137-380C= (n.1137-380C=) c.755C= c.843C= (p.His281=) | |
17 | g.44352149C>G | CA399768883 | GRN | c.1314C>G (p.His438Gln) c.1137-380C>G (n.1137-380C>G) c.755C>G c.843C>G (p.His281Gln) | |
17 | g.44352149C>T | CA500622284 | GRN | c.1314C>T (p.His438=) c.1137-380C>T (n.1137-380C>T) c.755C>T c.843C>T (p.His281=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352152del | CA2579758278 | GRN | c.1317del (p.Arg440GlufsTer?) c.1137-377del (n.1137-377del) c.758del c.846del (p.Arg283GlufsTer?) | |
17 | g.44352150C>A | CA399768886 | GRN | c.1315C>A (p.Pro439Thr) c.1137-379C>A (n.1137-379C>A) c.756C>A c.844C>A (p.Pro282Thr) | |
17 | g.44352150C>G | CA399768889 | GRN | c.1315C>G (p.Pro439Ala) c.1137-379C>G (n.1137-379C>G) c.756C>G c.844C>G (p.Pro282Ala) | |
17 | g.44352150C>T | CA399768891 | GRN | c.1315C>T (p.Pro439Ser) c.1137-379C>T (n.1137-379C>T) c.756C>T c.844C>T (p.Pro282Ser) | |
17 | g.44352151C>A | CA399768895 | GRN | c.1316C>A (p.Pro439His) c.1137-378C>A (n.1137-378C>A) c.757C>A c.845C>A (p.Pro282His) | |
17 | g.44352151C= | CA2261354523 | GRN | c.1316C= (p.Pro439=) c.1137-378C= (n.1137-378C=) c.757C= c.845C= (p.Pro282=) | |
17 | g.44352151C>G | CA8602168 | GRN | c.1316C>G (p.Pro439Arg) c.1137-378C>G (n.1137-378C>G) c.757C>G c.845C>G (p.Pro282Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352151C>T | CA399768897 | GRN | c.1316C>T (p.Pro439Leu) c.1137-378C>T (n.1137-378C>T) c.757C>T c.845C>T (p.Pro282Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44352152C>A | CA500622286 | GRN | c.1317C>A (p.Pro439=) c.1137-377C>A (n.1137-377C>A) c.758C>A c.846C>A (p.Pro282=) | |
17 | g.44352152C>G | CA500622289 | GRN | c.1317C>G (p.Pro439=) c.1137-377C>G (n.1137-377C>G) c.758C>G c.846C>G (p.Pro282=) | |
17 | g.44352152C>T | CA500622288 | GRN | c.1317C>T (p.Pro439=) c.1137-377C>T (n.1137-377C>T) c.758C>T c.846C>T (p.Pro282=) | |
17 | g.44352152_44352153del | CA2576290563 | GRN | c.1317_1318del (p.Asp441HisfsTer4) c.1137-377_1137-376del (n.1137-377_1137-376del) c.758_759del c.846_847del (p.Asp284HisfsTer4) | ClinVar |
17 | g.44352153A>C | CA500622291 | GRN | c.1318A>C (p.Arg440=) c.1137-376A>C (n.1137-376A>C) c.759A>C c.847A>C (p.Arg283=) | |
17 | g.44352153A>G | CA399768901 | GRN | c.1318A>G (p.Arg440Gly) c.1137-376A>G (n.1137-376A>G) c.759A>G c.847A>G (p.Arg283Gly) | gnomAD v4 |
17 | g.44352153A>T | CA399768903 | GRN | c.1318A>T (p.Arg440Ter) c.1137-376A>T (n.1137-376A>T) c.759A>T c.847A>T (p.Arg283Ter) | |
17 | g.44352154G>A | CA399768913 | GRN | c.1319G>A (p.Arg440Lys) c.1137-375G>A (n.1137-375G>A) c.760G>A c.848G>A (p.Arg283Lys) | |
17 | g.44352154G>C | CA399768911 | GRN | c.1319G>C (p.Arg440Thr) c.1137-375G>C (n.1137-375G>C) c.760G>C c.848G>C (p.Arg283Thr) | |
17 | g.44352154G>T | CA399768907 | GRN | c.1319G>T (p.Arg440Ile) c.1137-375G>T (n.1137-375G>T) c.760G>T c.848G>T (p.Arg283Ile) | |
17 | g.44352155A>C | CA399768917 | GRN | c.1320A>C (p.Arg440Ser) c.1137-374A>C (n.1137-374A>C) c.761A>C c.849A>C (p.Arg283Ser) | |
17 | g.44352155A>G | CA500622296 | GRN | c.1320A>G (p.Arg440=) c.1137-374A>G (n.1137-374A>G) c.761A>G c.849A>G (p.Arg283=) | |
17 | g.44352155A>T | CA399768919 | GRN | c.1320A>T (p.Arg440Ser) c.1137-374A>T (n.1137-374A>T) c.761A>T c.849A>T (p.Arg283Ser) | |
17 | g.44352156G>A | CA399768922 | GRN | c.1321G>A (p.Asp441Asn) c.1137-373G>A (n.1137-373G>A) c.762G>A c.850G>A (p.Asp284Asn) | |
17 | g.44352156G>C | CA399768925 | GRN | c.1321G>C (p.Asp441His) c.1137-373G>C (n.1137-373G>C) c.762G>C c.850G>C (p.Asp284His) | |
17 | g.44352156G>T | CA399768928 | GRN | c.1321G>T (p.Asp441Tyr) c.1137-373G>T (n.1137-373G>T) c.762G>T c.850G>T (p.Asp284Tyr) | |
17 | g.44352157A>C | CA399768930 | GRN | c.1322A>C (p.Asp441Ala) c.1137-372A>C (n.1137-372A>C) c.763A>C c.851A>C (p.Asp284Ala) | |
17 | g.44352157A>G | CA399768937 | GRN | c.1322A>G (p.Asp441Gly) c.1137-372A>G (n.1137-372A>G) c.763A>G c.851A>G (p.Asp284Gly) | |
17 | g.44352157A>T | CA399768940 | GRN | c.1322A>T (p.Asp441Val) c.1137-372A>T (n.1137-372A>T) c.763A>T c.851A>T (p.Asp284Val) | |
17 | g.44352158C>A | CA399768944 | GRN | c.1323C>A (p.Asp441Glu) c.1137-371C>A (n.1137-371C>A) c.764C>A c.852C>A (p.Asp284Glu) | |
17 | g.44352158C>G | CA399768947 | GRN | c.1323C>G (p.Asp441Glu) c.1137-371C>G (n.1137-371C>G) c.764C>G c.852C>G (p.Asp284Glu) | |
17 | g.44352158C>T | CA500622303 | GRN | c.1323C>T (p.Asp441=) c.1137-371C>T (n.1137-371C>T) c.764C>T c.852C>T (p.Asp284=) | |
17 | g.44352159A= | CA2261354524 | GRN | c.1324A= (p.Ile442=) c.1137-370A= (n.1137-370A=) c.765A= c.853A= (p.Ile285=) | |
17 | g.44352159A>C | CA399768950 | GRN | c.1324A>C (p.Ile442Leu) c.1137-370A>C (n.1137-370A>C) c.765A>C c.853A>C (p.Ile285Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44352159A>G | CA290926765 | GRN | c.1324A>G (p.Ile442Val) c.1137-370A>G (n.1137-370A>G) c.765A>G c.853A>G (p.Ile285Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352159A>T | CA399768955 | GRN | c.1324A>T (p.Ile442Phe) c.1137-370A>T (n.1137-370A>T) c.765A>T c.853A>T (p.Ile285Phe) | |
17 | g.44352160T>A | CA399768960 | GRN | c.1325T>A (p.Ile442Asn) c.1137-369T>A (n.1137-369T>A) c.766T>A c.854T>A (p.Ile285Asn) | |
17 | g.44352160T>C | CA399768963 | GRN | c.1325T>C (p.Ile442Thr) c.1137-369T>C (n.1137-369T>C) c.766T>C c.854T>C (p.Ile285Thr) | |
17 | g.44352160T>G | CA399768965 | GRN | c.1325T>G (p.Ile442Ser) c.1137-369T>G (n.1137-369T>G) c.766T>G c.854T>G (p.Ile285Ser) | |
17 | g.44352161C>A | CA500622305 | GRN | c.1326C>A (p.Ile442=) c.1137-368C>A (n.1137-368C>A) c.767C>A c.855C>A (p.Ile285=) | |
17 | g.44352161C= | CA2261354525 | GRN | c.1326C= (p.Ile442=) c.1137-368C= (n.1137-368C=) c.767C= c.855C= (p.Ile285=) | |
17 | g.44352161C>G | CA8602170 | GRN | c.1326C>G (p.Ile442Met) c.1137-368C>G (n.1137-368C>G) c.767C>G c.855C>G (p.Ile285Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352161C>T | CA8602169 | GRN | c.1326C>T (p.Ile442=) c.1137-368C>T (n.1137-368C>T) c.767C>T c.855C>T (p.Ile285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352162G>A | CA8602171 | GRN | c.1327G>A (p.Gly443Ser) c.1137-367G>A (n.1137-367G>A) c.768G>A c.856G>A (p.Gly286Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352162G>C | CA399768975 | GRN | c.1327G>C (p.Gly443Arg) c.1137-367G>C (n.1137-367G>C) c.768G>C c.856G>C (p.Gly286Arg) | ClinVar gnomAD v4 |
17 | g.44352162G= | CA2261354526 | GRN | c.1327G= (p.Gly443=) c.1137-367G= (n.1137-367G=) c.768G= c.856G= (p.Gly286=) | |
17 | g.44352162G>T | CA399768978 | GRN | c.1327G>T (p.Gly443Cys) c.1137-367G>T (n.1137-367G>T) c.768G>T c.856G>T (p.Gly286Cys) | |
17 | g.44352163G>A | CA399768981 | GRN | c.1328G>A (p.Gly443Asp) c.1137-366G>A (n.1137-366G>A) c.769G>A c.857G>A (p.Gly286Asp) | gnomAD v4 |
17 | g.44352163G>C | CA399768984 | GRN | c.1328G>C (p.Gly443Ala) c.1137-366G>C (n.1137-366G>C) c.769G>C c.857G>C (p.Gly286Ala) | |
17 | g.44352163G>T | CA399768986 | GRN | c.1328G>T (p.Gly443Val) c.1137-366G>T (n.1137-366G>T) c.769G>T c.857G>T (p.Gly286Val) | |
17 | g.44352164C>A | CA500622308 | GRN | c.1329C>A (p.Gly443=) c.1137-365C>A (n.1137-365C>A) c.770C>A c.858C>A (p.Gly286=) | |
17 | g.44352164C= | CA2261354527 | GRN | c.1329C= (p.Gly443=) c.1137-365C= (n.1137-365C=) c.770C= c.858C= (p.Gly286=) | |
17 | g.44352164C>G | CA500622309 | GRN | c.1329C>G (p.Gly443=) c.1137-365C>G (n.1137-365C>G) c.770C>G c.858C>G (p.Gly286=) | |
17 | g.44352164C>T | CA500622310 | GRN | c.1329C>T (p.Gly443=) c.1137-365C>T (n.1137-365C>T) c.770C>T c.858C>T (p.Gly286=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352165T>A | CA399768989 | GRN | c.1330T>A (p.Cys444Ser) c.1137-364T>A (n.1137-364T>A) c.771T>A c.859T>A (p.Cys287Ser) | |
17 | g.44352165T>C | CA399768992 | GRN | c.1330T>C (p.Cys444Arg) c.1137-364T>C (n.1137-364T>C) c.771T>C c.859T>C (p.Cys287Arg) | ClinVar |
17 | g.44352165T>G | CA399768995 | GRN | c.1330T>G (p.Cys444Gly) c.1137-364T>G (n.1137-364T>G) c.771T>G c.859T>G (p.Cys287Gly) | |
17 | g.44352166G>A | CA8602172 | GRN | c.1331G>A (p.Cys444Tyr) c.1137-363G>A (n.1137-363G>A) c.772G>A c.860G>A (p.Cys287Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352166G>C | CA399769000 | GRN | c.1331G>C (p.Cys444Ser) c.1137-363G>C (n.1137-363G>C) c.772G>C c.860G>C (p.Cys287Ser) | |
17 | g.44352166G= | CA2261354528 | GRN | c.1331G= (p.Cys444=) c.1137-363G= (n.1137-363G=) c.772G= c.860G= (p.Cys287=) | |
17 | g.44352166G>T | CA399769003 | GRN | c.1331G>T (p.Cys444Phe) c.1137-363G>T (n.1137-363G>T) c.772G>T c.860G>T (p.Cys287Phe) | |
17 | g.44352167T>A | CA399769006 | GRN | c.1332T>A (p.Cys444Ter) c.1137-362T>A (n.1137-362T>A) c.773T>A c.861T>A (p.Cys287Ter) | |
17 | g.44352167T>C | CA500622314 | GRN | c.1332T>C (p.Cys444=) c.1137-362T>C (n.1137-362T>C) c.773T>C c.861T>C (p.Cys287=) | |
17 | g.44352167T>G | CA399769009 | GRN | c.1332T>G (p.Cys444Trp) c.1137-362T>G (n.1137-362T>G) c.773T>G c.861T>G (p.Cys287Trp) | |
17 | g.44352168G>A | CA8602173 | GRN | c.1333G>A (p.Asp445Asn) c.1137-361G>A (n.1137-361G>A) c.774G>A c.862G>A (p.Asp288Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352168G>C | CA399769013 | GRN | c.1333G>C (p.Asp445His) c.1137-361G>C (n.1137-361G>C) c.774G>C c.862G>C (p.Asp288His) | |
17 | g.44352168G= | CA2261354529 | GRN | c.1333G= (p.Asp445=) c.1137-361G= (n.1137-361G=) c.774G= c.862G= (p.Asp288=) | |
17 | g.44352168G>T | CA399769015 | GRN | c.1333G>T (p.Asp445Tyr) c.1137-361G>T (n.1137-361G>T) c.774G>T c.862G>T (p.Asp288Tyr) | |
17 | g.44352169A>C | CA399769019 | GRN | c.1334A>C (p.Asp445Ala) c.1137-360A>C (n.1137-360A>C) c.775A>C c.863A>C (p.Asp288Ala) | |
17 | g.44352169A>G | CA399769021 | GRN | c.1334A>G (p.Asp445Gly) c.1137-360A>G (n.1137-360A>G) c.775A>G c.863A>G (p.Asp288Gly) | |
17 | g.44352169A>T | CA399769024 | GRN | c.1334A>T (p.Asp445Val) c.1137-360A>T (n.1137-360A>T) c.775A>T c.863A>T (p.Asp288Val) | |
17 | g.44352170C>A | CA399769029 | GRN | c.1335C>A (p.Asp445Glu) c.1137-359C>A (n.1137-359C>A) c.776C>A c.864C>A (p.Asp288Glu) | gnomAD v4 |
17 | g.44352170C>G | CA399769030 | GRN | c.1335C>G (p.Asp445Glu) c.1137-359C>G (n.1137-359C>G) c.776C>G c.864C>G (p.Asp288Glu) | |
17 | g.44352170C>T | CA500622317 | GRN | c.1335C>T (p.Asp445=) c.1137-359C>T (n.1137-359C>T) c.776C>T c.864C>T (p.Asp288=) | COSMIC |
17 | g.44352171C>A | CA399769032 | GRN | c.1336C>A (p.Gln446Lys) c.1137-358C>A (n.1137-358C>A) c.777C>A c.865C>A (p.Gln289Lys) | |
17 | g.44352171C>G | CA399769036 | GRN | c.1336C>G (p.Gln446Glu) c.1137-358C>G (n.1137-358C>G) c.777C>G c.865C>G (p.Gln289Glu) | |
17 | g.44352171C>T | CA399769038 | GRN | c.1336C>T (p.Gln446Ter) c.1137-358C>T (n.1137-358C>T) c.777C>T c.865C>T (p.Gln289Ter) | gnomAD v4 |
17 | g.44352172A= | CA2261354530 | GRN | c.1337A= (p.Gln446=) c.1137-357A= (n.1137-357A=) c.778A= c.866A= (p.Gln289=) | |
17 | g.44352172A>C | CA399769041 | GRN | c.1337A>C (p.Gln446Pro) c.1137-357A>C (n.1137-357A>C) c.778A>C c.866A>C (p.Gln289Pro) | |
17 | g.44352172A>G | CA399769044 | GRN | c.1337A>G (p.Gln446Arg) c.1137-357A>G (n.1137-357A>G) c.778A>G c.866A>G (p.Gln289Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352172A>T | CA8602174 | GRN | c.1337A>T (p.Gln446Leu) c.1137-357A>T (n.1137-357A>T) c.778A>T c.866A>T (p.Gln289Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352173G>A | CA500622321 | GRN | c.1338G>A (p.Gln446=) c.1137-356G>A (n.1137-356G>A) c.779G>A c.867G>A (p.Gln289=) | |
17 | g.44352173G>C | CA399769049 | GRN | c.1338G>C (p.Gln446His) c.1137-356G>C (n.1137-356G>C) c.779G>C c.867G>C (p.Gln289His) | |
17 | g.44352173G>T | CA399769052 | GRN | c.1338G>T (p.Gln446His) c.1137-356G>T (n.1137-356G>T) c.779G>T c.867G>T (p.Gln289His) | |
17 | g.44352174C>A | CA399769055 | GRN | c.1339C>A (p.His447Asn) c.1137-355C>A (n.1137-355C>A) c.780C>A c.868C>A (p.His290Asn) | |
17 | g.44352174C= | CA2261354531 | GRN | c.1339C= (p.His447=) c.1137-355C= (n.1137-355C=) c.780C= c.868C= (p.His290=) | |
17 | g.44352174C>G | CA399769058 | GRN | c.1339C>G (p.His447Asp) c.1137-355C>G (n.1137-355C>G) c.780C>G c.868C>G (p.His290Asp) | |
17 | g.44352174C>T | CA399769061 | GRN | c.1339C>T (p.His447Tyr) c.1137-355C>T (n.1137-355C>T) c.780C>T c.868C>T (p.His290Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352175A>C | CA399769064 | GRN | c.1340A>C (p.His447Pro) c.1137-354A>C (n.1137-354A>C) c.781A>C c.869A>C (p.His290Pro) | COSMIC |
17 | g.44352175A>G | CA399769067 | GRN | c.1340A>G (p.His447Arg) c.1137-354A>G (n.1137-354A>G) c.781A>G c.869A>G (p.His290Arg) | |
17 | g.44352175A>T | CA399769069 | GRN | c.1340A>T (p.His447Leu) c.1137-354A>T (n.1137-354A>T) c.781A>T c.869A>T (p.His290Leu) | |
17 | g.44352176C>A | CA399769073 | GRN | c.1341C>A (p.His447Gln) c.1137-353C>A (n.1137-353C>A) c.782C>A c.870C>A (p.His290Gln) | |
17 | g.44352176C= | CA2261354532 | GRN | c.1341C= (p.His447=) c.1137-353C= (n.1137-353C=) c.782C= c.870C= (p.His290=) | |
17 | g.44352176C>G | CA399769075 | GRN | c.1341C>G (p.His447Gln) c.1137-353C>G (n.1137-353C>G) c.782C>G c.870C>G (p.His290Gln) | |
17 | g.44352176C>T | CA225339 | GRN | c.1341C>T (p.His447=) c.1137-353C>T (n.1137-353C>T) c.782C>T c.870C>T (p.His290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352177A>C | CA399769080 | GRN | c.1342A>C (p.Thr448Pro) c.1137-352A>C (n.1137-352A>C) c.783A>C c.871A>C (p.Thr291Pro) | |
17 | g.44352177A>G | CA399769082 | GRN | c.1342A>G (p.Thr448Ala) c.1137-352A>G (n.1137-352A>G) c.783A>G c.871A>G (p.Thr291Ala) | gnomAD v4 COSMIC |
17 | g.44352177A>T | CA399769085 | GRN | c.1342A>T (p.Thr448Ser) c.1137-352A>T (n.1137-352A>T) c.783A>T c.871A>T (p.Thr291Ser) | |
17 | g.44352180_44352200del | CA2576290564 | GRN | c.1345_1365del (p.Ser449_Thr455del) c.1137-349_1137-329del (n.1137-349_1137-329del) c.786_806del c.874_894del (p.Ser292_Thr298del) | gnomAD v4 |
17 | g.44352178C>A | CA399769088 | GRN | c.1343C>A (p.Thr448Asn) c.1137-351C>A (n.1137-351C>A) c.784C>A c.872C>A (p.Thr291Asn) | |
17 | g.44352178C= | CA2261354533 | GRN | c.1343C= (p.Thr448=) c.1137-351C= (n.1137-351C=) c.784C= c.872C= (p.Thr291=) | |
17 | g.44352178C>G | CA399769094 | GRN | c.1343C>G (p.Thr448Ser) c.1137-351C>G (n.1137-351C>G) c.784C>G c.872C>G (p.Thr291Ser) | |
17 | g.44352178C>T | CA399769091 | GRN | c.1343C>T (p.Thr448Ile) c.1137-351C>T (n.1137-351C>T) c.784C>T c.872C>T (p.Thr291Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44352179C>A | CA500622331 | GRN | c.1344C>A (p.Thr448=) c.1137-350C>A (n.1137-350C>A) c.785C>A c.873C>A (p.Thr291=) | |
17 | g.44352179C= | CA2261354534 | GRN | c.1344C= (p.Thr448=) c.1137-350C= (n.1137-350C=) c.785C= c.873C= (p.Thr291=) | |
17 | g.44352179C>G | CA500622333 | GRN | c.1344C>G (p.Thr448=) c.1137-350C>G (n.1137-350C>G) c.785C>G c.873C>G (p.Thr291=) | ClinVar gnomAD v4 |
17 | g.44352179C>T | CA500622335 | GRN | c.1344C>T (p.Thr448=) c.1137-350C>T (n.1137-350C>T) c.785C>T c.873C>T (p.Thr291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352180A>C | CA399769097 | GRN | c.1345A>C (p.Ser449Arg) c.1137-349A>C (n.1137-349A>C) c.786A>C c.874A>C (p.Ser292Arg) | |
17 | g.44352180A>G | CA399769107 | GRN | c.1345A>G (p.Ser449Gly) c.1137-349A>G (n.1137-349A>G) c.786A>G c.874A>G (p.Ser292Gly) | |
17 | g.44352180A>T | CA399769099 | GRN | c.1345A>T (p.Ser449Cys) c.1137-349A>T (n.1137-349A>T) c.786A>T c.874A>T (p.Ser292Cys) | |
17 | g.44352180_44352201delinsAGCTGCCCGGTGGGGCAGACCT | CA2261354535 | GRN | c.1345_1366delinsAGCTGCCCGGTGGGGCAGACCT (p.Ser449=) c.1137-349_1137-328delinsAGCTGCCCGGTGGGGCAGACCT (n.1137-349_1137-328delinsAGCTGCCCGGTGGGGCAGACCT) c.786_807delinsAGCTGCCCGGTGGGGCAGACCT c.874_895delinsAGCTGCCCGGTGGGGCAGACCT (p.Ser292=) | |
17 | g.44352181G>A | CA8602176 | GRN | c.1346G>A (p.Ser449Asn) c.1137-348G>A (n.1137-348G>A) c.787G>A c.875G>A (p.Ser292Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352181G>C | CA399769113 | GRN | c.1346G>C (p.Ser449Thr) c.1137-348G>C (n.1137-348G>C) c.787G>C c.875G>C (p.Ser292Thr) | gnomAD v4 |
17 | g.44352181G= | CA2261354536 | GRN | c.1346G= (p.Ser449=) c.1137-348G= (n.1137-348G=) c.787G= c.875G= (p.Ser292=) | |
17 | g.44352181G>T | CA399769116 | GRN | c.1346G>T (p.Ser449Ile) c.1137-348G>T (n.1137-348G>T) c.787G>T c.875G>T (p.Ser292Ile) | |
17 | g.44352189_44352209del | CA8602175 | GRN | c.1354_1374del (p.Val452_Pro458del) c.1137-340_1137-320del (n.1137-340_1137-320del) c.795_815del c.883_903del (p.Val295_Pro301del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352182C>A | CA399769124 | GRN | c.1347C>A (p.Ser449Arg) c.1137-347C>A (n.1137-347C>A) c.788C>A c.876C>A (p.Ser292Arg) | gnomAD v4 |
17 | g.44352182C= | CA2261354537 | GRN | c.1347C= (p.Ser449=) c.1137-347C= (n.1137-347C=) c.788C= c.876C= (p.Ser292=) | |
17 | g.44352182C>G | CA399769119 | GRN | c.1347C>G (p.Ser449Arg) c.1137-347C>G (n.1137-347C>G) c.788C>G c.876C>G (p.Ser292Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.44352182C>T | CA290926791 | GRN | c.1347C>T (p.Ser449=) c.1137-347C>T (n.1137-347C>T) c.788C>T c.876C>T (p.Ser292=) | dbSNP gnomAD v4 |
17 | g.44352183T>A | CA399769127 | GRN | c.1348T>A (p.Cys450Ser) c.1137-346T>A (n.1137-346T>A) c.789T>A c.877T>A (p.Cys293Ser) | |
17 | g.44352183T>C | CA399769130 | GRN | c.1348T>C (p.Cys450Arg) c.1137-346T>C (n.1137-346T>C) c.789T>C c.877T>C (p.Cys293Arg) | |
17 | g.44352183T>G | CA399769133 | GRN | c.1348T>G (p.Cys450Gly) c.1137-346T>G (n.1137-346T>G) c.789T>G c.877T>G (p.Cys293Gly) | |
17 | g.44352184G>A | CA399769135 | GRN | c.1349G>A (p.Cys450Tyr) c.1137-345G>A (n.1137-345G>A) c.790G>A c.878G>A (p.Cys293Tyr) | |
17 | g.44352184G>C | CA399769138 | GRN | c.1349G>C (p.Cys450Ser) c.1137-345G>C (n.1137-345G>C) c.790G>C c.878G>C (p.Cys293Ser) | |
17 | g.44352184G>T | CA399769141 | GRN | c.1349G>T (p.Cys450Phe) c.1137-345G>T (n.1137-345G>T) c.790G>T c.878G>T (p.Cys293Phe) | |
17 | g.44352185C>A | CA399769144 | GRN | c.1350C>A (p.Cys450Ter) c.1137-344C>A (n.1137-344C>A) c.791C>A c.879C>A (p.Cys293Ter) | |
17 | g.44352185C>G | CA399769147 | GRN | c.1350C>G (p.Cys450Trp) c.1137-344C>G (n.1137-344C>G) c.791C>G c.879C>G (p.Cys293Trp) | |
17 | g.44352185C>T | CA500622339 | GRN | c.1350C>T (p.Cys450=) c.1137-344C>T (n.1137-344C>T) c.791C>T c.879C>T (p.Cys293=) | |
17 | g.44352186C>A | CA399769150 | GRN | c.1351C>A (p.Pro451Thr) c.1137-343C>A (n.1137-343C>A) c.792C>A c.880C>A (p.Pro294Thr) | |
17 | g.44352186C>G | CA399769153 | GRN | c.1351C>G (p.Pro451Ala) c.1137-343C>G (n.1137-343C>G) c.792C>G c.880C>G (p.Pro294Ala) | gnomAD v4 |
17 | g.44352186C>T | CA399769154 | GRN | c.1351C>T (p.Pro451Ser) c.1137-343C>T (n.1137-343C>T) c.792C>T c.880C>T (p.Pro294Ser) | |
17 | g.44352187C>A | CA399769159 | GRN | c.1352C>A (p.Pro451Gln) c.1137-342C>A (n.1137-342C>A) c.793C>A c.881C>A (p.Pro294Gln) | |
17 | g.44352187C= | CA2261354538 | GRN | c.1352C= (p.Pro451=) c.1137-342C= (n.1137-342C=) c.793C= c.881C= (p.Pro294=) | |
17 | g.44352187C>G | CA399769162 | GRN | c.1352C>G (p.Pro451Arg) c.1137-342C>G (n.1137-342C>G) c.793C>G c.881C>G (p.Pro294Arg) | |
17 | g.44352187C>T | CA8602177 | GRN | c.1352C>T (p.Pro451Leu) c.1137-342C>T (n.1137-342C>T) c.793C>T c.881C>T (p.Pro294Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352188G>A | CA500622342 | GRN | c.1353G>A (p.Pro451=) c.1137-341G>A (n.1137-341G>A) c.794G>A c.882G>A (p.Pro294=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352188G>C | CA500622343 | GRN | c.1353G>C (p.Pro451=) c.1137-341G>C (n.1137-341G>C) c.794G>C c.882G>C (p.Pro294=) | |
17 | g.44352188G= | CA2261354539 | GRN | c.1353G= (p.Pro451=) c.1137-341G= (n.1137-341G=) c.794G= c.882G= (p.Pro294=) | |
17 | g.44352188G>T | CA500622344 | GRN | c.1353G>T (p.Pro451=) c.1137-341G>T (n.1137-341G>T) c.794G>T c.882G>T (p.Pro294=) | gnomAD v4 |
17 | g.44352189del | CA2638210586 | GRN | c.1354del (p.Val452TrpfsTer?) c.1137-340del (n.1137-340del) c.795del c.883del (p.Val295TrpfsTer?) | gnomAD v4 |
17 | g.44352189G>A | CA399769166 | GRN | c.1354G>A (p.Val452Met) c.1137-340G>A (n.1137-340G>A) c.795G>A c.883G>A (p.Val295Met) | |
17 | g.44352189G>C | CA399769167 | GRN | c.1354G>C (p.Val452Leu) c.1137-340G>C (n.1137-340G>C) c.795G>C c.883G>C (p.Val295Leu) | |
17 | g.44352189G>T | CA399769170 | GRN | c.1354G>T (p.Val452Leu) c.1137-340G>T (n.1137-340G>T) c.795G>T c.883G>T (p.Val295Leu) | gnomAD v4 |
17 | g.44352190T>A | CA8602179 | GRN | c.1355T>A (p.Val452Glu) c.1137-339T>A (n.1137-339T>A) c.796T>A c.884T>A (p.Val295Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352190T>C | CA8602178 | GRN | c.1355T>C (p.Val452Ala) c.1137-339T>C (n.1137-339T>C) c.796T>C c.884T>C (p.Val295Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352190T>G | CA399769173 | GRN | c.1355T>G (p.Val452Gly) c.1137-339T>G (n.1137-339T>G) c.796T>G c.884T>G (p.Val295Gly) | dbSNP |
17 | g.44352190T= | CA2261354541 | GRN | c.1355T= (p.Val452=) c.1137-339T= (n.1137-339T=) c.796T= c.884T= (p.Val295=) | |
17 | g.44352190_44352191delinsTG | CA2261354540 | GRN | c.1355_1356delinsTG (p.Val452=) c.1137-339_1137-338delinsTG (n.1137-339_1137-338delinsTG) c.796_797delinsTG c.884_885delinsTG (p.Val295=) | |
17 | g.44352191G>A | CA500622346 | GRN | c.1356G>A (p.Val452=) c.1137-338G>A (n.1137-338G>A) c.797G>A c.885G>A (p.Val295=) | |
17 | g.44352191G>C | CA500622347 | GRN | c.1356G>C (p.Val452=) c.1137-338G>C (n.1137-338G>C) c.797G>C c.885G>C (p.Val295=) | |
17 | g.44352191G>T | CA500622348 | GRN | c.1356G>T (p.Val452=) c.1137-338G>T (n.1137-338G>T) c.797G>T c.885G>T (p.Val295=) | |
17 | g.44352194dup | CA2695226239 | GRN | c.1359dup (p.Gln454AlafsTer?) c.1137-335dup (n.1137-335dup) c.800dup c.888dup (p.Gln297AlafsTer?) | |
17 | g.44352194del | CA290926818 | GRN | c.1359del (p.Gln454ArgfsTer?) c.1137-335del (n.1137-335del) c.800del c.888del (p.Gln297ArgfsTer?) | dbSNP |
17 | g.44352192G>A | CA8602180 | GRN | c.1357G>A (p.Gly453Arg) c.1137-337G>A (n.1137-337G>A) c.798G>A c.886G>A (p.Gly296Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352192G>C | CA399769176 | GRN | c.1357G>C (p.Gly453Arg) c.1137-337G>C (n.1137-337G>C) c.798G>C c.886G>C (p.Gly296Arg) | |
17 | g.44352192G= | CA2261354542 | GRN | c.1357G= (p.Gly453=) c.1137-337G= (n.1137-337G=) c.798G= c.886G= (p.Gly296=) | |
17 | g.44352192G>T | CA399769178 | GRN | c.1357G>T (p.Gly453Trp) c.1137-337G>T (n.1137-337G>T) c.798G>T c.886G>T (p.Gly296Trp) | |
17 | g.44352195_44352217del | CA2638210599 | GRN | c.1360_1382del (p.Gln454TrpfsTer?) c.1137-334_1137-312del (n.1137-334_1137-312del) c.801_823del c.889_911del (p.Gln297TrpfsTer?) | gnomAD v4 |
17 | g.44352193G>A | CA399769182 | GRN | c.1358G>A (p.Gly453Glu) c.1137-336G>A (n.1137-336G>A) c.799G>A c.887G>A (p.Gly296Glu) | |
17 | g.44352193G>C | CA399769184 | GRN | c.1358G>C (p.Gly453Ala) c.1137-336G>C (n.1137-336G>C) c.799G>C c.887G>C (p.Gly296Ala) | |
17 | g.44352193G= | CA2261354543 | GRN | c.1358G= (p.Gly453=) c.1137-336G= (n.1137-336G=) c.799G= c.887G= (p.Gly296=) | |
17 | g.44352193G>T | CA399769180 | GRN | c.1358G>T (p.Gly453Val) c.1137-336G>T (n.1137-336G>T) c.799G>T c.887G>T (p.Gly296Val) | dbSNP |
17 | g.44352194G>A | CA500622351 | GRN | c.1359G>A (p.Gly453=) c.1137-335G>A (n.1137-335G>A) c.800G>A c.888G>A (p.Gly296=) | |
17 | g.44352194G>C | CA500622352 | GRN | c.1359G>C (p.Gly453=) c.1137-335G>C (n.1137-335G>C) c.800G>C c.888G>C (p.Gly296=) | |
17 | g.44352194G>T | CA500622353 | GRN | c.1359G>T (p.Gly453=) c.1137-335G>T (n.1137-335G>T) c.800G>T c.888G>T (p.Gly296=) | |
17 | g.44352195C>A | CA399769187 | GRN | c.1360C>A (p.Gln454Lys) c.1137-334C>A (n.1137-334C>A) c.801C>A c.889C>A (p.Gln297Lys) | |
17 | g.44352195C>G | CA399769188 | GRN | c.1360C>G (p.Gln454Glu) c.1137-334C>G (n.1137-334C>G) c.801C>G c.889C>G (p.Gln297Glu) | |
17 | g.44352195C>T | CA399769190 | GRN | c.1360C>T (p.Gln454Ter) c.1137-334C>T (n.1137-334C>T) c.801C>T c.889C>T (p.Gln297Ter) | |
17 | g.44352196A>C | CA399769193 | GRN | c.1361A>C (p.Gln454Pro) c.1137-333A>C (n.1137-333A>C) c.802A>C c.890A>C (p.Gln297Pro) | |
17 | g.44352196A>G | CA399769194 | GRN | c.1361A>G (p.Gln454Arg) c.1137-333A>G (n.1137-333A>G) c.802A>G c.890A>G (p.Gln297Arg) | |
17 | g.44352196A>T | CA399769196 | GRN | c.1361A>T (p.Gln454Leu) c.1137-333A>T (n.1137-333A>T) c.802A>T c.890A>T (p.Gln297Leu) | |
17 | g.44352197G>A | CA500622354 | GRN | c.1362G>A (p.Gln454=) c.1137-332G>A (n.1137-332G>A) c.803G>A c.891G>A (p.Gln297=) | |
17 | g.44352197G>C | CA399769198 | GRN | c.1362G>C (p.Gln454His) c.1137-332G>C (n.1137-332G>C) c.803G>C c.891G>C (p.Gln297His) | |
17 | g.44352197G>T | CA399769200 | GRN | c.1362G>T (p.Gln454His) c.1137-332G>T (n.1137-332G>T) c.803G>T c.891G>T (p.Gln297His) | |
17 | g.44352198A= | CA2261354544 | GRN | c.1363A= (p.Thr455=) c.1137-331A= (n.1137-331A=) c.804A= c.892A= (p.Thr298=) | |
17 | g.44352198A>C | CA399769203 | GRN | c.1363A>C (p.Thr455Pro) c.1137-331A>C (n.1137-331A>C) c.804A>C c.892A>C (p.Thr298Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352198A>G | CA399769205 | GRN | c.1363A>G (p.Thr455Ala) c.1137-331A>G (n.1137-331A>G) c.804A>G c.892A>G (p.Thr298Ala) | |
17 | g.44352198A>T | CA399769206 | GRN | c.1363A>T (p.Thr455Ser) c.1137-331A>T (n.1137-331A>T) c.804A>T c.892A>T (p.Thr298Ser) | |
17 | g.44352199C>A | CA399769210 | GRN | c.1364C>A (p.Thr455Asn) c.1137-330C>A (n.1137-330C>A) c.805C>A c.893C>A (p.Thr298Asn) | |
17 | g.44352199C= | CA2261354545 | GRN | c.1364C= (p.Thr455=) c.1137-330C= (n.1137-330C=) c.805C= c.893C= (p.Thr298=) | |
17 | g.44352199C>G | CA399769212 | GRN | c.1364C>G (p.Thr455Ser) c.1137-330C>G (n.1137-330C>G) c.805C>G c.893C>G (p.Thr298Ser) | |
17 | g.44352199C>T | CA399769209 | GRN | c.1364C>T (p.Thr455Ile) c.1137-330C>T (n.1137-330C>T) c.805C>T c.893C>T (p.Thr298Ile) | |
17 | g.44352200C>A | CA500622356 | GRN | c.1365C>A (p.Thr455=) c.1137-329C>A (n.1137-329C>A) c.806C>A c.894C>A (p.Thr298=) | |
17 | g.44352200C= | CA2261354546 | GRN | c.1365C= (p.Thr455=) c.1137-329C= (n.1137-329C=) c.806C= c.894C= (p.Thr298=) | |
17 | g.44352200C>G | CA500622357 | GRN | c.1365C>G (p.Thr455=) c.1137-329C>G (n.1137-329C>G) c.806C>G c.894C>G (p.Thr298=) | dbSNP |
17 | g.44352200C>T | CA500622358 | GRN | c.1365C>T (p.Thr455=) c.1137-329C>T (n.1137-329C>T) c.806C>T c.894C>T (p.Thr298=) | gnomAD v4 |
17 | g.44352204_44352206dup | CA2261354547 | GRN | c.1369_1371dup (p.Cys457_Pro458insCys) c.1137-325_1137-323dup (n.1137-325_1137-323dup) c.810_812dup c.898_900dup (p.Cys300_Pro301insCys) | dbSNP |
17 | g.44352201T>A | CA399769214 | GRN | c.1366T>A (p.Cys456Ser) c.1137-328T>A (n.1137-328T>A) c.807T>A c.895T>A (p.Cys299Ser) | |
17 | g.44352201T>C | CA290926827 | GRN | c.1366T>C (p.Cys456Arg) c.1137-328T>C (n.1137-328T>C) c.807T>C c.895T>C (p.Cys299Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44352201T>G | CA399769217 | GRN | c.1366T>G (p.Cys456Gly) c.1137-328T>G (n.1137-328T>G) c.807T>G c.895T>G (p.Cys299Gly) | |
17 | g.44352201T= | CA2261354548 | GRN | c.1366T= (p.Cys456=) c.1137-328T= (n.1137-328T=) c.807T= c.895T= (p.Cys299=) | |
17 | g.44352202G>A | CA399769221 | GRN | c.1367G>A (p.Cys456Tyr) c.1137-327G>A (n.1137-327G>A) c.1G>A c.808G>A c.896G>A (p.Cys299Tyr) | gnomAD v4 |
17 | g.44352202G>C | CA399769225 | GRN | c.1367G>C (p.Cys456Ser) c.1137-327G>C (n.1137-327G>C) c.1G>C c.808G>C c.896G>C (p.Cys299Ser) | dbSNP gnomAD v2 |
17 | g.44352202G= | CA2261354549 | GRN | c.1367G= (p.Cys456=) c.1137-327G= (n.1137-327G=) c.1G= c.808G= c.896G= (p.Cys299=) | |
17 | g.44352202G>T | CA399769227 | GRN | c.1367G>T (p.Cys456Phe) c.1137-327G>T (n.1137-327G>T) c.1G>T c.808G>T c.896G>T (p.Cys299Phe) | |
17 | g.44352203C>A | CA399769230 | GRN | c.1368C>A (p.Cys456Ter) c.1137-326C>A (n.1137-326C>A) c.2C>A c.809C>A c.897C>A (p.Cys299Ter) | |
17 | g.44352203C>G | CA399769233 | GRN | c.1368C>G (p.Cys456Trp) c.1137-326C>G (n.1137-326C>G) c.2C>G c.809C>G c.897C>G (p.Cys299Trp) | |
17 | g.44352203C>T | CA500622363 | GRN | c.1368C>T (p.Cys456=) c.1137-326C>T (n.1137-326C>T) c.2C>T c.809C>T c.897C>T (p.Cys299=) | gnomAD v4 |
17 | g.44352204T>A | CA399769236 | GRN | c.1369T>A (p.Cys457Ser) c.1137-325T>A (n.1137-325T>A) c.3T>A c.810T>A c.898T>A (p.Cys300Ser) | |
17 | g.44352204T>C | CA399769239 | GRN | c.1369T>C (p.Cys457Arg) c.1137-325T>C (n.1137-325T>C) c.3T>C c.810T>C c.898T>C (p.Cys300Arg) | |
17 | g.44352204T>G | CA399769242 | GRN | c.1369T>G (p.Cys457Gly) c.1137-325T>G (n.1137-325T>G) c.3T>G c.810T>G c.898T>G (p.Cys300Gly) | |
17 | g.44352205G>A | CA399769245 | GRN | c.1370G>A (p.Cys457Tyr) c.1137-324G>A (n.1137-324G>A) c.4G>A c.811G>A c.899G>A (p.Cys300Tyr) | dbSNP |
17 | g.44352205G>C | CA399769247 | GRN | c.1370G>C (p.Cys457Ser) c.1137-324G>C (n.1137-324G>C) c.4G>C c.811G>C c.899G>C (p.Cys300Ser) | |
17 | g.44352205G= | CA2261354551 | GRN | c.1370G= (p.Cys457=) c.1137-324G= (n.1137-324G=) c.4G= c.811G= c.899G= (p.Cys300=) | |
17 | g.44352205G>T | CA399769249 | GRN | c.1370G>T (p.Cys457Phe) c.1137-324G>T (n.1137-324G>T) c.4G>T c.811G>T c.899G>T (p.Cys300Phe) | |
17 | g.44352205_44352206delinsGC | CA2261354550 | GRN | c.1370_1371delinsGC (p.Cys457=) c.1137-324_1137-323delinsGC (n.1137-324_1137-323delinsGC) c.4_5delinsGC c.811_812delinsGC c.899_900delinsGC (p.Cys300=) | |
17 | g.44352206C>A | CA399769257 | GRN | c.1371C>A (p.Cys457Ter) c.1137-323C>A (n.1137-323C>A) c.5C>A c.812C>A c.900C>A (p.Cys300Ter) | |
17 | g.44352206C>G | CA399769254 | GRN | c.1371C>G (p.Cys457Trp) c.1137-323C>G (n.1137-323C>G) c.5C>G c.812C>G c.900C>G (p.Cys300Trp) | |
17 | g.44352206C>T | CA500622367 | GRN | c.1371C>T (p.Cys457=) c.1137-323C>T (n.1137-323C>T) c.5C>T c.812C>T c.900C>T (p.Cys300=) | |
17 | g.44352208del | CA626224249 | GRN | c.1373del (p.Pro458ArgfsTer?) c.1137-321del (n.1137-321del) c.7del c.814del c.902del (p.Pro301ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352207C>A | CA399769261 | GRN | c.1372C>A (p.Pro458Thr) c.1137-322C>A (n.1137-322C>A) c.6C>A c.813C>A c.901C>A (p.Pro301Thr) | |
17 | g.44352207C>G | CA399769266 | GRN | c.1372C>G (p.Pro458Ala) c.1137-322C>G (n.1137-322C>G) c.6C>G c.813C>G c.901C>G (p.Pro301Ala) | |
17 | g.44352207C>T | CA399769263 | GRN | c.1372C>T (p.Pro458Ser) c.1137-322C>T (n.1137-322C>T) c.6C>T c.813C>T c.901C>T (p.Pro301Ser) | |
17 | g.44352208C>A | CA399769270 | GRN | c.1373C>A (p.Pro458Gln) c.1137-321C>A (n.1137-321C>A) c.7C>A c.814C>A c.902C>A (p.Pro301Gln) | dbSNP gnomAD v2 |
17 | g.44352208C= | CA2261354552 | GRN | c.1373C= (p.Pro458=) c.1137-321C= (n.1137-321C=) c.7C= c.814C= c.902C= (p.Pro301=) | |
17 | g.44352208C>G | CA399769274 | GRN | c.1373C>G (p.Pro458Arg) c.1137-321C>G (n.1137-321C>G) c.7C>G c.814C>G c.902C>G (p.Pro301Arg) | ClinVar dbSNP |
17 | g.44352208C>T | CA225342 | GRN | c.1373C>T (p.Pro458Leu) c.1137-321C>T (n.1137-321C>T) c.7C>T c.814C>T c.902C>T (p.Pro301Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352208_44352209insAGG | CA2809588882 | GRN | c.1373_1374insAGG (p.Pro458_Ser459insGly) c.1137-321_1137-320insAGG (n.1137-321_1137-320insAGG) c.7_8insAGG c.814_815insAGG c.902_903insAGG (p.Pro301_Ser302insGly) | |
17 | g.44352209G>A | CA8602181 | GRN | c.1374G>A (p.Pro458=) c.1137-320G>A (n.1137-320G>A) c.8G>A c.815G>A c.903G>A (p.Pro301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44352209G>C | CA500622369 | GRN | c.1374G>C (p.Pro458=) c.1137-320G>C (n.1137-320G>C) c.8G>C c.815G>C c.903G>C (p.Pro301=) | ClinVar |
17 | g.44352209G= | CA2261354553 | GRN | c.1374G= (p.Pro458=) c.1137-320G= (n.1137-320G=) c.8G= c.815G= c.903G= (p.Pro301=) | |
17 | g.44352209G>T | CA500622371 | GRN | c.1374G>T (p.Pro458=) c.1137-320G>T (n.1137-320G>T) c.8G>T c.815G>T c.903G>T (p.Pro301=) | |
17 | g.44352210A>C | CA399769279 | GRN | c.1375A>C (p.Ser459Arg) c.1137-319A>C (n.1137-319A>C) c.9A>C c.816A>C c.904A>C (p.Ser302Arg) | |
17 | g.44352210A>G | CA399769282 | GRN | c.1375A>G (p.Ser459Gly) c.1137-319A>G (n.1137-319A>G) c.9A>G c.816A>G c.904A>G (p.Ser302Gly) | |
17 | g.44352210A>T | CA399769285 | GRN | c.1375A>T (p.Ser459Cys) c.1137-319A>T (n.1137-319A>T) c.9A>T c.816A>T c.904A>T (p.Ser302Cys) | |
17 | g.44352211G>A | CA399769288 | GRN | c.1376G>A (p.Ser459Asn) c.1137-318G>A (n.1137-318G>A) c.10G>A c.817G>A c.905G>A (p.Ser302Asn) | |
17 | g.44352211G>C | CA399769290 | GRN | c.1376G>C (p.Ser459Thr) c.1137-318G>C (n.1137-318G>C) c.10G>C c.817G>C c.905G>C (p.Ser302Thr) | |
17 | g.44352211G>T | CA399769293 | GRN | c.1376G>T (p.Ser459Ile) c.1137-318G>T (n.1137-318G>T) c.10G>T c.817G>T c.905G>T (p.Ser302Ile) | gnomAD v4 |
17 | g.44352212C>A | CA399769296 | GRN | c.1377C>A (p.Ser459Arg) c.1137-317C>A (n.1137-317C>A) c.11C>A c.818C>A c.906C>A (p.Ser302Arg) | |
17 | g.44352212C= | CA2261354554 | GRN | c.1377C= (p.Ser459=) c.1137-317C= (n.1137-317C=) c.11C= c.818C= c.906C= (p.Ser302=) | |
17 | g.44352212C>G | CA399769299 | GRN | c.1377C>G (p.Ser459Arg) c.1137-317C>G (n.1137-317C>G) c.11C>G c.818C>G c.906C>G (p.Ser302Arg) | dbSNP |
17 | g.44352212C>T | CA500622373 | GRN | c.1377C>T (p.Ser459=) c.1137-317C>T (n.1137-317C>T) c.11C>T c.818C>T c.906C>T (p.Ser302=) | dbSNP gnomAD v4 |
17 | g.44352213C>A | CA399769305 | GRN | c.1378C>A (p.Leu460Met) c.1137-316C>A (n.1137-316C>A) c.12C>A c.819C>A c.907C>A (p.Leu303Met) | |
17 | g.44352213C>G | CA399769302 | GRN | c.1378C>G (p.Leu460Val) c.1137-316C>G (n.1137-316C>G) c.12C>G c.819C>G c.907C>G (p.Leu303Val) | |
17 | g.44352213C>T | CA500622374 | GRN | c.1378C>T (p.Leu460=) c.1137-316C>T (n.1137-316C>T) c.12C>T c.819C>T c.907C>T (p.Leu303=) | |
17 | g.44352214T>A | CA399769308 | GRN | c.1379T>A (p.Leu460Gln) c.1137-315T>A (n.1137-315T>A) c.13T>A c.820T>A c.908T>A (p.Leu303Gln) | |
17 | g.44352214T>C | CA399769311 | GRN | c.1379T>C (p.Leu460Pro) c.1137-315T>C (n.1137-315T>C) c.13T>C c.820T>C c.908T>C (p.Leu303Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44352214T>G | CA399769314 | GRN | c.1379T>G (p.Leu460Arg) c.1137-315T>G (n.1137-315T>G) c.13T>G c.820T>G c.908T>G (p.Leu303Arg) | |
17 | g.44352214T= | CA2261354555 | GRN | c.1379T= (p.Leu460=) c.1137-315T= (n.1137-315T=) c.13T= c.820T= c.908T= (p.Leu303=) | |
17 | g.44352215G>A | CA500622376 | GRN | c.1380G>A (p.Leu460=) c.1137-314G>A (n.1137-314G>A) c.14G>A c.821G>A c.909G>A (p.Leu303=) | |
17 | g.44352215G>C | CA500622377 | GRN | c.1380G>C (p.Leu460=) c.1137-314G>C (n.1137-314G>C) c.14G>C c.821G>C c.909G>C (p.Leu303=) | |
17 | g.44352215G>T | CA500622378 | GRN | c.1380G>T (p.Leu460=) c.1137-314G>T (n.1137-314G>T) c.14G>T c.821G>T c.909G>T (p.Leu303=) | |
17 | g.44352216G>A | CA8602182 | GRN | c.1381G>A (p.Gly461Ser) c.1137-313G>A (n.1137-313G>A) c.15G>A c.822G>A c.910G>A (p.Gly304Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352216G>C | CA399769317 | GRN | c.1381G>C (p.Gly461Arg) c.1137-313G>C (n.1137-313G>C) c.15G>C c.822G>C c.910G>C (p.Gly304Arg) | |
17 | g.44352216G= | CA2261354556 | GRN | c.1381G= (p.Gly461=) c.1137-313G= (n.1137-313G=) c.15G= c.822G= c.910G= (p.Gly304=) | |
17 | g.44352216G>T | CA399769318 | GRN | c.1381G>T (p.Gly461Cys) c.1137-313G>T (n.1137-313G>T) c.15G>T c.822G>T c.910G>T (p.Gly304Cys) | |
17 | g.44352217G>A | CA399769320 | GRN | c.1382G>A (p.Gly461Asp) c.1137-312G>A (n.1137-312G>A) c.16G>A c.823G>A c.911G>A (p.Gly304Asp) | gnomAD v4 |
17 | g.44352217G>C | CA399769322 | GRN | c.1382G>C (p.Gly461Ala) c.1137-312G>C (n.1137-312G>C) c.16G>C c.823G>C c.911G>C (p.Gly304Ala) | |
17 | g.44352217G>T | CA399769324 | GRN | c.1382G>T (p.Gly461Val) c.1137-312G>T (n.1137-312G>T) c.16G>T c.823G>T c.911G>T (p.Gly304Val) | gnomAD v4 |
17 | g.44352218T>A | CA500622381 | GRN | c.1383T>A (p.Gly461=) c.1137-311T>A (n.1137-311T>A) c.17T>A c.824T>A c.912T>A (p.Gly304=) | |
17 | g.44352218T>C | CA500622382 | GRN | c.1383T>C (p.Gly461=) c.1137-311T>C (n.1137-311T>C) c.17T>C c.824T>C c.912T>C (p.Gly304=) | |
17 | g.44352218T>G | CA500622380 | GRN | c.1383T>G (p.Gly461=) c.1137-311T>G (n.1137-311T>G) c.17T>G c.824T>G c.912T>G (p.Gly304=) | dbSNP |
17 | g.44352218T= | CA2261354557 | GRN | c.1383T= (p.Gly461=) c.1137-311T= (n.1137-311T=) c.17T= c.824T= c.912T= (p.Gly304=) | |
17 | g.44352219G>A | CA399769326 | GRN | c.1384G>A (p.Gly462Arg) c.1137-310G>A (n.1137-310G>A) c.18G>A c.825G>A c.913G>A (p.Gly305Arg) | |
17 | g.44352219G>C | CA399769328 | GRN | c.1384G>C (p.Gly462Arg) c.1137-310G>C (n.1137-310G>C) c.18G>C c.825G>C c.913G>C (p.Gly305Arg) | |
17 | g.44352219G>T | CA399769330 | GRN | c.1384G>T (p.Gly462Trp) c.1137-310G>T (n.1137-310G>T) c.18G>T c.825G>T c.913G>T (p.Gly305Trp) | |
17 | g.44352220G>A | CA399769336 | GRN | c.1385G>A (p.Gly462Glu) c.1137-309G>A (n.1137-309G>A) c.19G>A c.826G>A c.914G>A (p.Gly305Glu) | |
17 | g.44352220G>C | CA399769334 | GRN | c.1385G>C (p.Gly462Ala) c.1137-309G>C (n.1137-309G>C) c.19G>C c.826G>C c.914G>C (p.Gly305Ala) | |
17 | g.44352220G>T | CA399769332 | GRN | c.1385G>T (p.Gly462Val) c.1137-309G>T (n.1137-309G>T) c.19G>T c.826G>T c.914G>T (p.Gly305Val) | |
17 | g.44352221G>A | CA500622386 | GRN | c.1386G>A (p.Gly462=) c.1137-308G>A (n.1137-308G>A) c.20G>A c.827G>A c.915G>A (p.Gly305=) | |
17 | g.44352221G>C | CA500622384 | GRN | c.1386G>C (p.Gly462=) c.1137-308G>C (n.1137-308G>C) c.20G>C c.827G>C c.915G>C (p.Gly305=) | |
17 | g.44352221G>T | CA500622385 | GRN | c.1386G>T (p.Gly462=) c.1137-308G>T (n.1137-308G>T) c.20G>T c.827G>T c.915G>T (p.Gly305=) | |
17 | g.44352222A>C | CA399769337 | GRN | c.1387A>C (p.Ser463Arg) c.1137-307A>C (n.1137-307A>C) c.21A>C c.828A>C c.916A>C (p.Ser306Arg) | |
17 | g.44352222A>G | CA399769339 | GRN | c.1387A>G (p.Ser463Gly) c.1137-307A>G (n.1137-307A>G) c.21A>G c.828A>G c.916A>G (p.Ser306Gly) | |
17 | g.44352222A>T | CA399769341 | GRN | c.1387A>T (p.Ser463Cys) c.1137-307A>T (n.1137-307A>T) c.21A>T c.828A>T c.916A>T (p.Ser306Cys) | |
17 | g.44352223G>A | CA8602183 | GRN | c.1388G>A (p.Ser463Asn) c.1137-306G>A (n.1137-306G>A) c.22G>A c.829G>A c.917G>A (p.Ser306Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44352223G>C | CA399769344 | GRN | c.1388G>C (p.Ser463Thr) c.1137-306G>C (n.1137-306G>C) c.22G>C c.829G>C c.917G>C (p.Ser306Thr) | |
17 | g.44352223G= | CA2261354558 | GRN | c.1388G= (p.Ser463=) c.1137-306G= (n.1137-306G=) c.22G= c.829G= c.917G= (p.Ser306=) | |
17 | g.44352223G>T | CA399769346 | GRN | c.1388G>T (p.Ser463Ile) c.1137-306G>T (n.1137-306G>T) c.22G>T c.829G>T c.917G>T (p.Ser306Ile) | |
17 | g.44352224C>A | CA399769350 | GRN | c.1389C>A (p.Ser463Arg) c.1137-305C>A (n.1137-305C>A) c.23C>A c.830C>A c.918C>A (p.Ser306Arg) | |
17 | g.44352224C= | CA2261354559 | GRN | c.1389C= (p.Ser463=) c.1137-305C= (n.1137-305C=) c.23C= c.830C= c.918C= (p.Ser306=) | |
17 | g.44352224C>G | CA399769348 | GRN | c.1389C>G (p.Ser463Arg) c.1137-305C>G (n.1137-305C>G) c.23C>G c.830C>G c.918C>G (p.Ser306Arg) | |
17 | g.44352224C>T | CA500622390 | GRN | c.1389C>T (p.Ser463=) c.1137-305C>T (n.1137-305C>T) c.23C>T c.830C>T c.918C>T (p.Ser306=) | dbSNP |
17 | g.44352225T>A | CA399769353 | GRN | c.1390T>A (p.Trp464Arg) c.1137-304T>A (n.1137-304T>A) c.24T>A c.831T>A c.919T>A (p.Trp307Arg) | |
17 | g.44352225T>C | CA399769354 | GRN | c.1390T>C (p.Trp464Arg) c.1137-304T>C (n.1137-304T>C) c.24T>C c.831T>C c.919T>C (p.Trp307Arg) | |
17 | g.44352225T>G | CA399769356 | GRN | c.1390T>G (p.Trp464Gly) c.1137-304T>G (n.1137-304T>G) c.24T>G c.831T>G c.919T>G (p.Trp307Gly) | |
17 | g.44352226G>A | CA399769359 | GRN | c.1391G>A (p.Trp464Ter) c.1137-303G>A (n.1137-303G>A) c.25G>A c.832G>A c.920G>A (p.Trp307Ter) | |
17 | g.44352226G>C | CA399769360 | GRN | c.1391G>C (p.Trp464Ser) c.1137-303G>C (n.1137-303G>C) c.25G>C c.832G>C c.920G>C (p.Trp307Ser) | |
17 | g.44352226G>T | CA399769362 | GRN | c.1391G>T (p.Trp464Leu) c.1137-303G>T (n.1137-303G>T) c.25G>T c.832G>T c.920G>T (p.Trp307Leu) | |
17 | g.44352227G>A | CA399769364 | GRN | c.1392G>A (p.Trp464Ter) c.1137-302G>A (n.1137-302G>A) c.26G>A c.833G>A c.921G>A (p.Trp307Ter) | |
17 | g.44352227G>C | CA399769368 | GRN | c.1392G>C (p.Trp464Cys) c.1137-302G>C (n.1137-302G>C) c.26G>C c.833G>C c.921G>C (p.Trp307Cys) | |
17 | g.44352227G>T | CA399769366 | GRN | c.1392G>T (p.Trp464Cys) c.1137-302G>T (n.1137-302G>T) c.26G>T c.833G>T c.921G>T (p.Trp307Cys) | |
17 | g.44352228G>A | CA399769370 | GRN | c.1393G>A (p.Ala465Thr) c.1137-301G>A (n.1137-301G>A) c.27G>A c.834G>A c.922G>A (p.Ala308Thr) | |
17 | g.44352228G>C | CA399769372 | GRN | c.1393G>C (p.Ala465Pro) c.1137-301G>C (n.1137-301G>C) c.27G>C c.834G>C c.922G>C (p.Ala308Pro) | |
17 | g.44352228G= | CA2261354560 | GRN | c.1393G= (p.Ala465=) c.1137-301G= (n.1137-301G=) c.27G= c.834G= c.922G= (p.Ala308=) | |
17 | g.44352228G>T | CA399769374 | GRN | c.1393G>T (p.Ala465Ser) c.1137-301G>T (n.1137-301G>T) c.27G>T c.834G>T c.922G>T (p.Ala308Ser) | |
17 | g.44352229C>A | CA399769376 | GRN | c.1394C>A (p.Ala465Asp) c.1137-300C>A (n.1137-300C>A) c.28C>A c.835C>A c.923C>A (p.Ala308Asp) | gnomAD v4 |
17 | g.44352229C>G | CA399769378 | GRN | c.1394C>G (p.Ala465Gly) c.1137-300C>G (n.1137-300C>G) c.28C>G c.835C>G c.923C>G (p.Ala308Gly) | |
17 | g.44352229C>T | CA399769380 | GRN | c.1394C>T (p.Ala465Val) c.1137-300C>T (n.1137-300C>T) c.28C>T c.835C>T c.923C>T (p.Ala308Val) | gnomAD v4 |
17 | g.44352230dup | CA225345 | GRN | c.1395dup (p.Cys466LeufsTer?) c.1137-299dup (n.1137-299dup) c.29dup c.836dup c.924dup (p.Cys309LeufsTer?) | ClinVar dbSNP |
17 | g.44352230C>A | CA500622397 | GRN | c.1395C>A (p.Ala465=) c.1137-299C>A (n.1137-299C>A) c.29C>A c.836C>A c.924C>A (p.Ala308=) | gnomAD v4 |
17 | g.44352230C>G | CA500622395 | GRN | c.1395C>G (p.Ala465=) c.1137-299C>G (n.1137-299C>G) c.29C>G c.836C>G c.924C>G (p.Ala308=) | |
17 | g.44352230C>T | CA500622396 | GRN | c.1395C>T (p.Ala465=) c.1137-299C>T (n.1137-299C>T) c.29C>T c.836C>T c.924C>T (p.Ala308=) | ClinVar dbSNP |