| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44352024_44352047del | CA2638210295 | GRN | c.1189_1212del (p.Cys397_Cys404del) c.1136+272_1136+295del (n.1136+272_1136+295del) c.630_653del c.718_741del (p.Cys240_Cys247del) | gnomAD v4 |
| 17 | g.44352026C>A | CA399768119 | GRN | c.1191C>A (p.Cys397Ter) c.1136+274C>A (n.1136+274C>A) c.632C>A c.720C>A (p.Cys240Ter) | |
| 17 | g.44352026C>G | CA399768122 | GRN | c.1191C>G (p.Cys397Trp) c.1136+274C>G (n.1136+274C>G) c.632C>G c.720C>G (p.Cys240Trp) | |
| 17 | g.44352026C>T | CA500622329 | GRN | c.1191C>T (p.Cys397=) c.1136+274C>T (n.1136+274C>T) c.632C>T c.720C>T (p.Cys240=) | |
| 17 | g.44352027T>A | CA399768132 | GRN | c.1192T>A (p.Ser398Thr) c.1136+275T>A (n.1136+275T>A) c.633T>A c.721T>A (p.Ser241Thr) | |
| 17 | g.44352027T>C | CA399768129 | GRN | c.1192T>C (p.Ser398Pro) c.1136+275T>C (n.1136+275T>C) c.633T>C c.721T>C (p.Ser241Pro) | |
| 17 | g.44352027T>G | CA399768127 | GRN | c.1192T>G (p.Ser398Ala) c.1136+275T>G (n.1136+275T>G) c.633T>G c.721T>G (p.Ser241Ala) | |
| 17 | g.44352028C>A | CA399768136 | GRN | c.1193C>A (p.Ser398Ter) c.1136+276C>A (n.1136+276C>A) c.634C>A c.722C>A (p.Ser241Ter) | |
| 17 | g.44352028C= | CA2261354465 | GRN | c.1193C= (p.Ser398=) c.1136+276C= (n.1136+276C=) c.634C= c.722C= (p.Ser241=) | |
| 17 | g.44352028C>G | CA399768140 | GRN | c.1193C>G (p.Ser398Trp) c.1136+276C>G (n.1136+276C>G) c.634C>G c.722C>G (p.Ser241Trp) | gnomAD v4 |
| 17 | g.44352028C>T | CA8602141 | GRN | c.1193C>T (p.Ser398Leu) c.1136+276C>T (n.1136+276C>T) c.634C>T c.722C>T (p.Ser241Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44352029G>A | CA8602142 | GRN | c.1194G>A (p.Ser398=) c.1136+277G>A (n.1136+277G>A) c.635G>A c.723G>A (p.Ser241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352029G>C | CA500622336 | GRN | c.1194G>C (p.Ser398=) c.1136+277G>C (n.1136+277G>C) c.635G>C c.723G>C (p.Ser241=) | |
| 17 | g.44352029G= | CA2261354466 | GRN | c.1194G= (p.Ser398=) c.1136+277G= (n.1136+277G=) c.635G= c.723G= (p.Ser241=) | |
| 17 | g.44352029G>T | CA500622337 | GRN | c.1194G>T (p.Ser398=) c.1136+277G>T (n.1136+277G>T) c.635G>T c.723G>T (p.Ser241=) | |
| 17 | g.44352030G>A | CA8602143 | GRN | c.1195G>A (p.Asp399Asn) c.1136+278G>A (n.1136+278G>A) c.636G>A c.724G>A (p.Asp242Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352030G>C | CA399768148 | GRN | c.1195G>C (p.Asp399His) c.1136+278G>C (n.1136+278G>C) c.636G>C c.724G>C (p.Asp242His) | dbSNP |
| 17 | g.44352030G= | CA2261354467 | GRN | c.1195G= (p.Asp399=) c.1136+278G= (n.1136+278G=) c.636G= c.724G= (p.Asp242=) | |
| 17 | g.44352030G>T | CA399768151 | GRN | c.1195G>T (p.Asp399Tyr) c.1136+278G>T (n.1136+278G>T) c.636G>T c.724G>T (p.Asp242Tyr) | gnomAD v4 |
| 17 | g.44352031A>C | CA399768156 | GRN | c.1196A>C (p.Asp399Ala) c.1136+279A>C (n.1136+279A>C) c.637A>C c.725A>C (p.Asp242Ala) | |
| 17 | g.44352031A>G | CA399768158 | GRN | c.1196A>G (p.Asp399Gly) c.1136+279A>G (n.1136+279A>G) c.637A>G c.725A>G (p.Asp242Gly) | |
| 17 | g.44352031A>T | CA399768160 | GRN | c.1196A>T (p.Asp399Val) c.1136+279A>T (n.1136+279A>T) c.637A>T c.725A>T (p.Asp242Val) | |
| 17 | g.44352031_44352032del | CA2695226237 | GRN | c.1196_1197del (p.Asp399AlafsTer14) c.1136+279_1136+280del (n.1136+279_1136+280del) c.637_638del c.725_726del (p.Asp242AlafsTer14) | |
| 17 | g.44352032C>A | CA290926630 | GRN | c.1197C>A (p.Asp399Glu) c.1136+280C>A (n.1136+280C>A) c.638C>A c.726C>A (p.Asp242Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352032C= | CA2261354468 | GRN | c.1197C= (p.Asp399=) c.1136+280C= (n.1136+280C=) c.638C= c.726C= (p.Asp242=) | |
| 17 | g.44352032C>G | CA399768164 | GRN | c.1197C>G (p.Asp399Glu) c.1136+280C>G (n.1136+280C>G) c.638C>G c.726C>G (p.Asp242Glu) | |
| 17 | g.44352032C>T | CA500622338 | GRN | c.1197C>T (p.Asp399=) c.1136+280C>T (n.1136+280C>T) c.638C>T c.726C>T (p.Asp242=) | |
| 17 | g.44352033C>A | CA399768171 | GRN | c.1198C>A (p.His400Asn) c.1136+281C>A (n.1136+281C>A) c.639C>A c.727C>A (p.His243Asn) | |
| 17 | g.44352033C>G | CA399768173 | GRN | c.1198C>G (p.His400Asp) c.1136+281C>G (n.1136+281C>G) c.639C>G c.727C>G (p.His243Asp) | |
| 17 | g.44352033C>T | CA399768168 | GRN | c.1198C>T (p.His400Tyr) c.1136+281C>T (n.1136+281C>T) c.639C>T c.727C>T (p.His243Tyr) | |
| 17 | g.44352034A>C | CA399768176 | GRN | c.1199A>C (p.His400Pro) c.1136+282A>C (n.1136+282A>C) c.640A>C c.728A>C (p.His243Pro) | |
| 17 | g.44352034A>G | CA399768178 | GRN | c.1199A>G (p.His400Arg) c.1136+282A>G (n.1136+282A>G) c.640A>G c.728A>G (p.His243Arg) | gnomAD v4 |
| 17 | g.44352034A>T | CA399768182 | GRN | c.1199A>T (p.His400Leu) c.1136+282A>T (n.1136+282A>T) c.640A>T c.728A>T (p.His243Leu) | |
| 17 | g.44352035C>A | CA399768183 | GRN | c.1200C>A (p.His400Gln) c.1136+283C>A (n.1136+283C>A) c.641C>A c.729C>A (p.His243Gln) | |
| 17 | g.44352035C= | CA2261354469 | GRN | c.1200C= (p.His400=) c.1136+283C= (n.1136+283C=) c.641C= c.729C= (p.His243=) | |
| 17 | g.44352035C>G | CA399768185 | GRN | c.1200C>G (p.His400Gln) c.1136+283C>G (n.1136+283C>G) c.641C>G c.729C>G (p.His243Gln) | |
| 17 | g.44352035C>T | CA500622341 | GRN | c.1200C>T (p.His400=) c.1136+283C>T (n.1136+283C>T) c.641C>T c.729C>T (p.His243=) | dbSNP gnomAD v2 |
| 17 | g.44352036C>A | CA399768188 | GRN | c.1201C>A (p.Gln401Lys) c.1136+284C>A (n.1136+284C>A) c.642C>A c.730C>A (p.Gln244Lys) | gnomAD v4 |
| 17 | g.44352036C= | CA2261354470 | GRN | c.1201C= (p.Gln401=) c.1136+284C= (n.1136+284C=) c.642C= c.730C= (p.Gln244=) | |
| 17 | g.44352036C>G | CA399768191 | GRN | c.1201C>G (p.Gln401Glu) c.1136+284C>G (n.1136+284C>G) c.642C>G c.730C>G (p.Gln244Glu) | |
| 17 | g.44352036C>T | CA225319 | GRN | c.1201C>T (p.Gln401Ter) c.1136+284C>T (n.1136+284C>T) c.642C>T c.730C>T (p.Gln244Ter) | ClinVar dbSNP |
| 17 | g.44352037A>C | CA399768196 | GRN | c.1202A>C (p.Gln401Pro) c.1136+285A>C (n.1136+285A>C) c.643A>C c.731A>C (p.Gln244Pro) | |
| 17 | g.44352037A>G | CA399768199 | GRN | c.1202A>G (p.Gln401Arg) c.1136+285A>G (n.1136+285A>G) c.643A>G c.731A>G (p.Gln244Arg) | |
| 17 | g.44352037A>T | CA399768200 | GRN | c.1202A>T (p.Gln401Leu) c.1136+285A>T (n.1136+285A>T) c.643A>T c.731A>T (p.Gln244Leu) | |
| 17 | g.44352038G>A | CA500622345 | GRN | c.1203G>A (p.Gln401=) c.1136+286G>A (n.1136+286G>A) c.644G>A c.732G>A (p.Gln244=) | |
| 17 | g.44352038G>C | CA399768211 | GRN | c.1203G>C (p.Gln401His) c.1136+286G>C (n.1136+286G>C) c.644G>C c.732G>C (p.Gln244His) | |
| 17 | g.44352038G>T | CA399768214 | GRN | c.1203G>T (p.Gln401His) c.1136+286G>T (n.1136+286G>T) c.644G>T c.732G>T (p.Gln244His) | |
| 17 | g.44352039C>A | CA399768222 | GRN | c.1204C>A (p.His402Asn) c.1136+287C>A (n.1136+287C>A) c.645C>A c.733C>A (p.His245Asn) | |
| 17 | g.44352039C= | CA2261354471 | GRN | c.1204C= (p.His402=) c.1136+287C= (n.1136+287C=) c.645C= c.733C= (p.His245=) | |
| 17 | g.44352039C>G | CA399768219 | GRN | c.1204C>G (p.His402Asp) c.1136+287C>G (n.1136+287C>G) c.645C>G c.733C>G (p.His245Asp) | ClinVar gnomAD v4 |
| 17 | g.44352039C>T | CA8602144 | GRN | c.1204C>T (p.His402Tyr) c.1136+287C>T (n.1136+287C>T) c.645C>T c.733C>T (p.His245Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352040A>C | CA399768224 | GRN | c.1205A>C (p.His402Pro) c.1136+288A>C (n.1136+288A>C) c.646A>C c.734A>C (p.His245Pro) | |
| 17 | g.44352040A>G | CA399768227 | GRN | c.1205A>G (p.His402Arg) c.1136+288A>G (n.1136+288A>G) c.646A>G c.734A>G (p.His245Arg) | gnomAD v4 |
| 17 | g.44352040A>T | CA399768228 | GRN | c.1205A>T (p.His402Leu) c.1136+288A>T (n.1136+288A>T) c.646A>T c.734A>T (p.His245Leu) | |
| 17 | g.44352041C>A | CA399768233 | GRN | c.1206C>A (p.His402Gln) c.1136+289C>A (n.1136+289C>A) c.647C>A c.735C>A (p.His245Gln) | |
| 17 | g.44352041C>G | CA399768236 | GRN | c.1206C>G (p.His402Gln) c.1136+289C>G (n.1136+289C>G) c.647C>G c.735C>G (p.His245Gln) | |
| 17 | g.44352041C>T | CA500622350 | GRN | c.1206C>T (p.His402=) c.1136+289C>T (n.1136+289C>T) c.647C>T c.735C>T (p.His245=) | |
| 17 | g.44352042T>A | CA399768238 | GRN | c.1207T>A (p.Cys403Ser) c.1136+290T>A (n.1136+290T>A) c.648T>A c.736T>A (p.Cys246Ser) | |
| 17 | g.44352042T>C | CA399768241 | GRN | c.1207T>C (p.Cys403Arg) c.1136+290T>C (n.1136+290T>C) c.648T>C c.736T>C (p.Cys246Arg) | |
| 17 | g.44352042T>G | CA8602145 | GRN | c.1207T>G (p.Cys403Gly) c.1136+290T>G (n.1136+290T>G) c.648T>G c.736T>G (p.Cys246Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352042T= | CA2261354472 | GRN | c.1207T= (p.Cys403=) c.1136+290T= (n.1136+290T=) c.648T= c.736T= (p.Cys246=) | |
| 17 | g.44352043G>A | CA399768246 | GRN | c.1208G>A (p.Cys403Tyr) c.1136+291G>A (n.1136+291G>A) c.649G>A c.737G>A (p.Cys246Tyr) | dbSNP gnomAD v2 |
| 17 | g.44352043G>C | CA399768254 | GRN | c.1208G>C (p.Cys403Ser) c.1136+291G>C (n.1136+291G>C) c.649G>C c.737G>C (p.Cys246Ser) | |
| 17 | g.44352043G= | CA2261354473 | GRN | c.1208G= (p.Cys403=) c.1136+291G= (n.1136+291G=) c.649G= c.737G= (p.Cys246=) | |
| 17 | g.44352043G>T | CA399768256 | GRN | c.1208G>T (p.Cys403Phe) c.1136+291G>T (n.1136+291G>T) c.649G>T c.737G>T (p.Cys246Phe) | |
| 17 | g.44352044C>A | CA399768258 | GRN | c.1209C>A (p.Cys403Ter) c.1136+292C>A (n.1136+292C>A) c.650C>A c.738C>A (p.Cys246Ter) | |
| 17 | g.44352044C>G | CA399768261 | GRN | c.1209C>G (p.Cys403Trp) c.1136+292C>G (n.1136+292C>G) c.650C>G c.738C>G (p.Cys246Trp) | |
| 17 | g.44352044C>T | CA500622355 | GRN | c.1209C>T (p.Cys403=) c.1136+292C>T (n.1136+292C>T) c.650C>T c.738C>T (p.Cys246=) | |
| 17 | g.44352045T>A | CA399768267 | GRN | c.1210T>A (p.Cys404Ser) c.1136+293T>A (n.1136+293T>A) c.651T>A c.739T>A (p.Cys247Ser) | |
| 17 | g.44352045T>C | CA399768270 | GRN | c.1210T>C (p.Cys404Arg) c.1136+293T>C (n.1136+293T>C) c.651T>C c.739T>C (p.Cys247Arg) | |
| 17 | g.44352045T>G | CA399768264 | GRN | c.1210T>G (p.Cys404Gly) c.1136+293T>G (n.1136+293T>G) c.651T>G c.739T>G (p.Cys247Gly) | |
| 17 | g.44352046G>A | CA399768275 | GRN | c.1211G>A (p.Cys404Tyr) c.1136+294G>A (n.1136+294G>A) c.652G>A c.740G>A (p.Cys247Tyr) | |
| 17 | g.44352046G>C | CA399768274 | GRN | c.1211G>C (p.Cys404Ser) c.1136+294G>C (n.1136+294G>C) c.652G>C c.740G>C (p.Cys247Ser) | |
| 17 | g.44352046G>T | CA399768277 | GRN | c.1211G>T (p.Cys404Phe) c.1136+294G>T (n.1136+294G>T) c.652G>T c.740G>T (p.Cys247Phe) | |
| 17 | g.44352047C>A | CA275534 | GRN | c.1212C>A (p.Cys404Ter) c.1136+295C>A (n.1136+295C>A) c.653C>A c.741C>A (p.Cys247Ter) | ClinVar dbSNP |
| 17 | g.44352047C= | CA2261354474 | GRN | c.1212C= (p.Cys404=) c.1136+295C= (n.1136+295C=) c.653C= c.741C= (p.Cys247=) | |
| 17 | g.44352047C>G | CA399768284 | GRN | c.1212C>G (p.Cys404Trp) c.1136+295C>G (n.1136+295C>G) c.653C>G c.741C>G (p.Cys247Trp) | |
| 17 | g.44352047C>T | CA8602146 | GRN | c.1212C>T (p.Cys404=) c.1136+295C>T (n.1136+295C>T) c.653C>T c.741C>T (p.Cys247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352051del | CA2573054458 | GRN | c.1216del (p.Gln406ArgfsTer6) c.1136+299del (n.1136+299del) c.657del c.745del (p.Gln249ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44352048C>A | CA399768291 | GRN | c.1213C>A (p.Pro405Thr) c.1136+296C>A (n.1136+296C>A) c.654C>A c.742C>A (p.Pro248Thr) | |
| 17 | g.44352048C= | CA2261354475 | GRN | c.1213C= (p.Pro405=) c.1136+296C= (n.1136+296C=) c.654C= c.742C= (p.Pro248=) | |
| 17 | g.44352048C>G | CA399768294 | GRN | c.1213C>G (p.Pro405Ala) c.1136+296C>G (n.1136+296C>G) c.654C>G c.742C>G (p.Pro248Ala) | |
| 17 | g.44352048C>T | CA290926640 | GRN | c.1213C>T (p.Pro405Ser) c.1136+296C>T (n.1136+296C>T) c.654C>T c.742C>T (p.Pro248Ser) | ClinVar dbSNP |
| 17 | g.44352049C>A | CA399768299 | GRN | c.1214C>A (p.Pro405His) c.1136+297C>A (n.1136+297C>A) c.655C>A c.743C>A (p.Pro248His) | |
| 17 | g.44352049C>G | CA399768302 | GRN | c.1214C>G (p.Pro405Arg) c.1136+297C>G (n.1136+297C>G) c.655C>G c.743C>G (p.Pro248Arg) | gnomAD v4 |
| 17 | g.44352049C>T | CA399768305 | GRN | c.1214C>T (p.Pro405Leu) c.1136+297C>T (n.1136+297C>T) c.655C>T c.743C>T (p.Pro248Leu) | |
| 17 | g.44352050C>A | CA500622362 | GRN | c.1215C>A (p.Pro405=) c.1136+298C>A (n.1136+298C>A) c.656C>A c.744C>A (p.Pro248=) | |
| 17 | g.44352050C>G | CA500622361 | GRN | c.1215C>G (p.Pro405=) c.1136+298C>G (n.1136+298C>G) c.656C>G c.744C>G (p.Pro248=) | |
| 17 | g.44352050C>T | CA500622360 | GRN | c.1215C>T (p.Pro405=) c.1136+298C>T (n.1136+298C>T) c.656C>T c.744C>T (p.Pro248=) | |
| 17 | g.44352051C>A | CA399768308 | GRN | c.1216C>A (p.Gln406Lys) c.1136+299C>A (n.1136+299C>A) c.657C>A c.745C>A (p.Gln249Lys) | |
| 17 | g.44352051C>G | CA399768311 | GRN | c.1216C>G (p.Gln406Glu) c.1136+299C>G (n.1136+299C>G) c.657C>G c.745C>G (p.Gln249Glu) | |
| 17 | g.44352051C>T | CA399768313 | GRN | c.1216C>T (p.Gln406Ter) c.1136+299C>T (n.1136+299C>T) c.657C>T c.745C>T (p.Gln249Ter) | ClinVar dbSNP |
| 17 | g.44352052A>C | CA399768322 | GRN | c.1217A>C (p.Gln406Pro) c.1136+300A>C (n.1136+300A>C) c.658A>C c.746A>C (p.Gln249Pro) | |
| 17 | g.44352052A>G | CA399768320 | GRN | c.1217A>G (p.Gln406Arg) c.1136+300A>G (n.1136+300A>G) c.658A>G c.746A>G (p.Gln249Arg) | |
| 17 | g.44352052A>T | CA399768318 | GRN | c.1217A>T (p.Gln406Leu) c.1136+300A>T (n.1136+300A>T) c.658A>T c.746A>T (p.Gln249Leu) | |
| 17 | g.44352053G>A | CA500622364 | GRN | c.1218G>A (p.Gln406=) c.1136+301G>A (n.1136+301G>A) c.659G>A c.747G>A (p.Gln249=) | |
| 17 | g.44352053G>C | CA399768326 | GRN | c.1218G>C (p.Gln406His) c.1136+301G>C (n.1136+301G>C) c.659G>C c.747G>C (p.Gln249His) | gnomAD v4 |
| 17 | g.44352053G>T | CA399768329 | GRN | c.1218G>T (p.Gln406His) c.1136+301G>T (n.1136+301G>T) c.659G>T c.747G>T (p.Gln249His) | |
| 17 | g.44352054G>A | CA399768332 | GRN | c.1219G>A (p.Gly407Ser) c.1136+302G>A (n.1136+302G>A) c.660G>A c.748G>A (p.Gly250Ser) | |
| 17 | g.44352054G>C | CA399768335 | GRN | c.1219G>C (p.Gly407Arg) c.1136+302G>C (n.1136+302G>C) c.660G>C c.748G>C (p.Gly250Arg) | |
| 17 | g.44352054G>T | CA399768337 | GRN | c.1219G>T (p.Gly407Cys) c.1136+302G>T (n.1136+302G>T) c.660G>T c.748G>T (p.Gly250Cys) | |
| 17 | g.44352055G>A | CA399768342 | GRN | c.1220G>A (p.Gly407Asp) c.1136+303G>A (n.1136+303G>A) c.661G>A c.749G>A (p.Gly250Asp) | |
| 17 | g.44352055G>C | CA399768344 | GRN | c.1220G>C (p.Gly407Ala) c.1136+303G>C (n.1136+303G>C) c.661G>C c.749G>C (p.Gly250Ala) | |
| 17 | g.44352055G>T | CA399768346 | GRN | c.1220G>T (p.Gly407Val) c.1136+303G>T (n.1136+303G>T) c.661G>T c.749G>T (p.Gly250Val) | |
| 17 | g.44352056C>A | CA290926644 | GRN | c.1221C>A (p.Gly407=) c.1136+304C>A (n.1136+304C>A) c.662C>A c.750C>A (p.Gly250=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352056C= | CA2261354476 | GRN | c.1221C= (p.Gly407=) c.1136+304C= (n.1136+304C=) c.662C= c.750C= (p.Gly250=) | |
| 17 | g.44352056C>G | CA500622368 | GRN | c.1221C>G (p.Gly407=) c.1136+304C>G (n.1136+304C>G) c.662C>G c.750C>G (p.Gly250=) | |
| 17 | g.44352056C>T | CA500622370 | GRN | c.1221C>T (p.Gly407=) c.1136+304C>T (n.1136+304C>T) c.662C>T c.750C>T (p.Gly250=) | |
| 17 | g.44352057T>A | CA399768352 | GRN | c.1222T>A (p.Tyr408Asn) c.1136+305T>A (n.1136+305T>A) c.663T>A c.751T>A (p.Tyr251Asn) | |
| 17 | g.44352057T>C | CA399768356 | GRN | c.1222T>C (p.Tyr408His) c.1136+305T>C (n.1136+305T>C) c.663T>C c.751T>C (p.Tyr251His) | |
| 17 | g.44352057T>G | CA399768359 | GRN | c.1222T>G (p.Tyr408Asp) c.1136+305T>G (n.1136+305T>G) c.663T>G c.751T>G (p.Tyr251Asp) | |
| 17 | g.44352058A>C | CA399768367 | GRN | c.1223A>C (p.Tyr408Ser) c.1136+306A>C (n.1136+306A>C) c.664A>C c.752A>C (p.Tyr251Ser) | |
| 17 | g.44352058A>G | CA399768365 | GRN | c.1223A>G (p.Tyr408Cys) c.1136+306A>G (n.1136+306A>G) c.664A>G c.752A>G (p.Tyr251Cys) | |
| 17 | g.44352058A>T | CA399768363 | GRN | c.1223A>T (p.Tyr408Phe) c.1136+306A>T (n.1136+306A>T) c.664A>T c.752A>T (p.Tyr251Phe) | |
| 17 | g.44352059C>A | CA399768371 | GRN | c.1224C>A (p.Tyr408Ter) c.1136+307C>A (n.1136+307C>A) c.665C>A c.753C>A (p.Tyr251Ter) | |
| 17 | g.44352059C= | CA2261354477 | GRN | c.1224C= (p.Tyr408=) c.1136+307C= (n.1136+307C=) c.665C= c.753C= (p.Tyr251=) | |
| 17 | g.44352059C>G | CA399768374 | GRN | c.1224C>G (p.Tyr408Ter) c.1136+307C>G (n.1136+307C>G) c.665C>G c.753C>G (p.Tyr251Ter) | |
| 17 | g.44352059C>T | CA8602147 | GRN | c.1224C>T (p.Tyr408=) c.1136+307C>T (n.1136+307C>T) c.665C>T c.753C>T (p.Tyr251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352060A>C | CA399768379 | GRN | c.1225A>C (p.Thr409Pro) c.1136+308A>C (n.1136+308A>C) c.666A>C c.754A>C (p.Thr252Pro) | |
| 17 | g.44352060A>G | CA399768383 | GRN | c.1225A>G (p.Thr409Ala) c.1136+308A>G (n.1136+308A>G) c.666A>G c.754A>G (p.Thr252Ala) | |
| 17 | g.44352060A>T | CA399768386 | GRN | c.1225A>T (p.Thr409Ser) c.1136+308A>T (n.1136+308A>T) c.666A>T c.754A>T (p.Thr252Ser) | |
| 17 | g.44352061C>A | CA399768394 | GRN | c.1226C>A (p.Thr409Lys) c.1136+309C>A (n.1136+309C>A) c.667C>A c.755C>A (p.Thr252Lys) | dbSNP gnomAD v4 COSMIC |
| 17 | g.44352061C= | CA2261354478 | GRN | c.1226C= (p.Thr409=) c.1136+309C= (n.1136+309C=) c.667C= c.755C= (p.Thr252=) | |
| 17 | g.44352061C>G | CA399768390 | GRN | c.1226C>G (p.Thr409Arg) c.1136+309C>G (n.1136+309C>G) c.667C>G c.755C>G (p.Thr252Arg) | |
| 17 | g.44352061C>T | CA8602148 | GRN | c.1226C>T (p.Thr409Met) c.1136+309C>T (n.1136+309C>T) c.667C>T c.755C>T (p.Thr252Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352061_44352063delinsCGT | CA2261354479 | GRN | c.1226_1228delinsCGT (p.Thr409=) c.1136+309_1136+311delinsCGT (n.1136+309_1136+311delinsCGT) c.667_669delinsCGT c.755_757delinsCGT (p.Thr252=) | |
| 17 | g.44352062del | CA2740093759 | GRN | c.1227del (p.Cys410ValfsTer2) c.1136+310del (n.1136+310del) c.668del c.756del (p.Cys253ValfsTer2) | ClinVar |
| 17 | g.44352062G>A | CA8602149 | GRN | c.1227G>A (p.Thr409=) c.1136+310G>A (n.1136+310G>A) c.668G>A c.756G>A (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352062G>C | CA500622379 | GRN | c.1227G>C (p.Thr409=) c.1136+310G>C (n.1136+310G>C) c.668G>C c.756G>C (p.Thr252=) | |
| 17 | g.44352062G= | CA2261354480 | GRN | c.1227G= (p.Thr409=) c.1136+310G= (n.1136+310G=) c.668G= c.756G= (p.Thr252=) | |
| 17 | g.44352062G>T | CA8602150 | GRN | c.1227G>T (p.Thr409=) c.1136+310G>T (n.1136+310G>T) c.668G>T c.756G>T (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352066_44352067dup | CA225323 | GRN | c.1231_1232dup (p.Ala412Ter) c.1136+314_1136+315dup (n.1136+314_1136+315dup) c.672_673dup c.760_761dup (p.Ala255Ter) | ClinVar dbSNP |
| 17 | g.44352066_44352067del | CA225322 | GRN | c.1231_1232del (p.Val411SerfsTer2) c.1136+314_1136+315del (n.1136+314_1136+315del) c.672_673del c.760_761del (p.Val254SerfsTer2) | ClinVar dbSNP |
| 17 | g.44352063T>A | CA399768407 | GRN | c.1228T>A (p.Cys410Ser) c.1136+311T>A (n.1136+311T>A) c.669T>A c.757T>A (p.Cys253Ser) | |
| 17 | g.44352063T>C | CA399768410 | GRN | c.1228T>C (p.Cys410Arg) c.1136+311T>C (n.1136+311T>C) c.669T>C c.757T>C (p.Cys253Arg) | |
| 17 | g.44352063T>G | CA399768412 | GRN | c.1228T>G (p.Cys410Gly) c.1136+311T>G (n.1136+311T>G) c.669T>G c.757T>G (p.Cys253Gly) | |
| 17 | g.44352064G>A | CA399768420 | GRN | c.1229G>A (p.Cys410Tyr) c.1136+312G>A (n.1136+312G>A) c.670G>A c.758G>A (p.Cys253Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44352064G>C | CA399768416 | GRN | c.1229G>C (p.Cys410Ser) c.1136+312G>C (n.1136+312G>C) c.670G>C c.758G>C (p.Cys253Ser) | |
| 17 | g.44352064G= | CA2261354481 | GRN | c.1229G= (p.Cys410=) c.1136+312G= (n.1136+312G=) c.670G= c.758G= (p.Cys253=) | |
| 17 | g.44352064G>T | CA399768419 | GRN | c.1229G>T (p.Cys410Phe) c.1136+312G>T (n.1136+312G>T) c.670G>T c.758G>T (p.Cys253Phe) | |
| 17 | g.44352065T>A | CA399768421 | GRN | c.1230T>A (p.Cys410Ter) c.1136+313T>A (n.1136+313T>A) c.671T>A c.759T>A (p.Cys253Ter) | |
| 17 | g.44352065T>C | CA500622383 | GRN | c.1230T>C (p.Cys410=) c.1136+313T>C (n.1136+313T>C) c.671T>C c.759T>C (p.Cys253=) | |
| 17 | g.44352065T>G | CA399768422 | GRN | c.1230T>G (p.Cys410Trp) c.1136+313T>G (n.1136+313T>G) c.671T>G c.759T>G (p.Cys253Trp) | |
| 17 | g.44352066G>A | CA399768423 | GRN | c.1231G>A (p.Val411Ile) c.1136+314G>A (n.1136+314G>A) c.672G>A c.760G>A (p.Val254Ile) | dbSNP gnomAD v4 |
| 17 | g.44352066G>C | CA399768425 | GRN | c.1231G>C (p.Val411Leu) c.1136+314G>C (n.1136+314G>C) c.672G>C c.760G>C (p.Val254Leu) | |
| 17 | g.44352066G= | CA2261354482 | GRN | c.1231G= (p.Val411=) c.1136+314G= (n.1136+314G=) c.672G= c.760G= (p.Val254=) | |
| 17 | g.44352066G>T | CA399768426 | GRN | c.1231G>T (p.Val411Leu) c.1136+314G>T (n.1136+314G>T) c.672G>T c.760G>T (p.Val254Leu) | |
| 17 | g.44352067T>A | CA399768427 | GRN | c.1232T>A (p.Val411Glu) c.1136+315T>A (n.1136+315T>A) c.673T>A c.761T>A (p.Val254Glu) | |
| 17 | g.44352067T>C | CA399768428 | GRN | c.1232T>C (p.Val411Ala) c.1136+315T>C (n.1136+315T>C) c.673T>C c.761T>C (p.Val254Ala) | |
| 17 | g.44352067T>G | CA399768429 | GRN | c.1232T>G (p.Val411Gly) c.1136+315T>G (n.1136+315T>G) c.673T>G c.761T>G (p.Val254Gly) | gnomAD v4 |
| 17 | g.44352067dup | CA2638210373 | GRN | c.1232dup (p.Ala412SerfsTer2) c.1136+315dup (n.1136+315dup) c.673dup c.761dup (p.Ala255SerfsTer2) | gnomAD v4 |
| 17 | g.44352068A>C | CA500622387 | GRN | c.1233A>C (p.Val411=) c.1136+316A>C (n.1136+316A>C) c.674A>C c.762A>C (p.Val254=) | |
| 17 | g.44352068A>G | CA500622388 | GRN | c.1233A>G (p.Val411=) c.1136+316A>G (n.1136+316A>G) c.674A>G c.762A>G (p.Val254=) | |
| 17 | g.44352068A>T | CA500622389 | GRN | c.1233A>T (p.Val411=) c.1136+316A>T (n.1136+316A>T) c.674A>T c.762A>T (p.Val254=) | |
| 17 | g.44352069G>A | CA399768433 | GRN | c.1234G>A (p.Ala412Thr) c.1136+317G>A (n.1136+317G>A) c.675G>A c.763G>A (p.Ala255Thr) | dbSNP gnomAD v4 |
| 17 | g.44352069G>C | CA399768435 | GRN | c.1234G>C (p.Ala412Pro) c.1136+317G>C (n.1136+317G>C) c.675G>C c.763G>C (p.Ala255Pro) | |
| 17 | g.44352069G= | CA2261354483 | GRN | c.1234G= (p.Ala412=) c.1136+317G= (n.1136+317G=) c.675G= c.763G= (p.Ala255=) | |
| 17 | g.44352069G>T | CA399768438 | GRN | c.1234G>T (p.Ala412Ser) c.1136+317G>T (n.1136+317G>T) c.675G>T c.763G>T (p.Ala255Ser) | |
| 17 | g.44352070C>A | CA399768447 | GRN | c.1235C>A (p.Ala412Asp) c.1136+318C>A (n.1136+318C>A) c.676C>A c.764C>A (p.Ala255Asp) | |
| 17 | g.44352070C>G | CA399768444 | GRN | c.1235C>G (p.Ala412Gly) c.1136+318C>G (n.1136+318C>G) c.676C>G c.764C>G (p.Ala255Gly) | |
| 17 | g.44352070C>T | CA399768441 | GRN | c.1235C>T (p.Ala412Val) c.1136+318C>T (n.1136+318C>T) c.676C>T c.764C>T (p.Ala255Val) | gnomAD v4 |
| 17 | g.44352071del | CA2809588875 | GRN | c.1236del (p.Glu413ArgfsTer?) c.1136+319del (n.1136+319del) c.677del c.765del (p.Glu256ArgfsTer?) | |
| 17 | g.44352071T>A | CA500622393 | GRN | c.1236T>A (p.Ala412=) c.1136+319T>A (n.1136+319T>A) c.677T>A c.765T>A (p.Ala255=) | |
| 17 | g.44352071T>C | CA500622392 | GRN | c.1236T>C (p.Ala412=) c.1136+319T>C (n.1136+319T>C) c.677T>C c.765T>C (p.Ala255=) | |
| 17 | g.44352071T>G | CA500622391 | GRN | c.1236T>G (p.Ala412=) c.1136+319T>G (n.1136+319T>G) c.677T>G c.765T>G (p.Ala255=) | |
| 17 | g.44352072G>A | CA399768449 | GRN | c.1237G>A (p.Glu413Lys) c.1136+320G>A (n.1136+320G>A) c.678G>A c.766G>A (p.Glu256Lys) | |
| 17 | g.44352072G>C | CA399768454 | GRN | c.1237G>C (p.Glu413Gln) c.1136+320G>C (n.1136+320G>C) c.678G>C c.766G>C (p.Glu256Gln) | gnomAD v4 |
| 17 | g.44352072G>T | CA399768451 | GRN | c.1237G>T (p.Glu413Ter) c.1136+320G>T (n.1136+320G>T) c.678G>T c.766G>T (p.Glu256Ter) | |
| 17 | g.44352076_44352091del | CA2638210378 | GRN | c.1241_1256del (p.Gly414GlufsTer?) c.1136+324_1136+339del (n.1136+324_1136+339del) c.682_697del c.770_785del (p.Gly257GlufsTer?) | gnomAD v4 |
| 17 | g.44352073A= | CA2261354484 | GRN | c.1238A= (p.Glu413=) c.1136+321A= (n.1136+321A=) c.679A= c.767A= (p.Glu256=) | |
| 17 | g.44352073A>C | CA399768458 | GRN | c.1238A>C (p.Glu413Ala) c.1136+321A>C (n.1136+321A>C) c.679A>C c.767A>C (p.Glu256Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44352073A>G | CA399768464 | GRN | c.1238A>G (p.Glu413Gly) c.1136+321A>G (n.1136+321A>G) c.679A>G c.767A>G (p.Glu256Gly) | gnomAD v4 |
| 17 | g.44352073A>T | CA399768461 | GRN | c.1238A>T (p.Glu413Val) c.1136+321A>T (n.1136+321A>T) c.679A>T c.767A>T (p.Glu256Val) | |
| 17 | g.44352074G>A | CA500622394 | GRN | c.1239G>A (p.Glu413=) c.1136+322G>A (n.1136+322G>A) c.680G>A c.768G>A (p.Glu256=) | gnomAD v4 |
| 17 | g.44352074G>C | CA8602151 | GRN | c.1239G>C (p.Glu413Asp) c.1136+322G>C (n.1136+322G>C) c.680G>C c.768G>C (p.Glu256Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352074G= | CA2261354485 | GRN | c.1239G= (p.Glu413=) c.1136+322G= (n.1136+322G=) c.680G= c.768G= (p.Glu256=) | |
| 17 | g.44352074G>T | CA399768469 | GRN | c.1239G>T (p.Glu413Asp) c.1136+322G>T (n.1136+322G>T) c.680G>T c.768G>T (p.Glu256Asp) | |
| 17 | g.44352074_44352075insA | CA2809588876 | GRN | c.1239_1240insA (p.Gly414ArgfsTer?) c.1136+322_1136+323insA (n.1136+322_1136+323insA) c.680_681insA c.768_769insA (p.Gly257ArgfsTer?) | |
| 17 | g.44352075G>A | CA399768474 | GRN | c.1240G>A (p.Gly414Arg) c.1136+323G>A (n.1136+323G>A) c.681G>A c.769G>A (p.Gly257Arg) | ClinVar |
| 17 | g.44352075G>C | CA399768476 | GRN | c.1240G>C (p.Gly414Arg) c.1136+323G>C (n.1136+323G>C) c.681G>C c.769G>C (p.Gly257Arg) | |
| 17 | g.44352075G>T | CA399768478 | GRN | c.1240G>T (p.Gly414Trp) c.1136+323G>T (n.1136+323G>T) c.681G>T c.769G>T (p.Gly257Trp) | |
| 17 | g.44352076G>A | CA399768484 | GRN | c.1241G>A (p.Gly414Glu) c.1136+324G>A (n.1136+324G>A) c.682G>A c.770G>A (p.Gly257Glu) | |
| 17 | g.44352076G>C | CA399768485 | GRN | c.1241G>C (p.Gly414Ala) c.1136+324G>C (n.1136+324G>C) c.682G>C c.770G>C (p.Gly257Ala) | |
| 17 | g.44352076G= | CA2261354486 | GRN | c.1241G= (p.Gly414=) c.1136+324G= (n.1136+324G=) c.682G= c.770G= (p.Gly257=) | |
| 17 | g.44352076G>T | CA225324 | GRN | c.1241G>T (p.Gly414Val) c.1136+324G>T (n.1136+324G>T) c.682G>T c.770G>T (p.Gly257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352077G>A | CA500622398 | GRN | c.1242G>A (p.Gly414=) c.1136+325G>A (n.1136+325G>A) c.683G>A c.771G>A (p.Gly257=) | |
| 17 | g.44352077G>C | CA500622399 | GRN | c.1242G>C (p.Gly414=) c.1136+325G>C (n.1136+325G>C) c.683G>C c.771G>C (p.Gly257=) | |
| 17 | g.44352077G>T | CA500622400 | GRN | c.1242G>T (p.Gly414=) c.1136+325G>T (n.1136+325G>T) c.683G>T c.771G>T (p.Gly257=) | |
| 17 | g.44352078C>A | CA399768489 | GRN | c.1243C>A (p.Gln415Lys) c.1136+326C>A (n.1136+326C>A) c.684C>A c.772C>A (p.Gln258Lys) | |
| 17 | g.44352078C= | CA2261354487 | GRN | c.1243C= (p.Gln415=) c.1136+326C= (n.1136+326C=) c.684C= c.772C= (p.Gln258=) | |
| 17 | g.44352078C>G | CA8602152 | GRN | c.1243C>G (p.Gln415Glu) c.1136+326C>G (n.1136+326C>G) c.684C>G c.772C>G (p.Gln258Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352078C>T | CA399768492 | GRN | c.1243C>T (p.Gln415Ter) c.1136+326C>T (n.1136+326C>T) c.684C>T c.772C>T (p.Gln258Ter) | dbSNP gnomAD v4 |
| 17 | g.44352079A= | CA2261354488 | GRN | c.1244A= (p.Gln415=) c.1136+327A= (n.1136+327A=) c.685A= c.773A= (p.Gln258=) | |
| 17 | g.44352079A>C | CA399768503 | GRN | c.1244A>C (p.Gln415Pro) c.1136+327A>C (n.1136+327A>C) c.685A>C c.773A>C (p.Gln258Pro) | |
| 17 | g.44352079A>G | CA399768499 | GRN | c.1244A>G (p.Gln415Arg) c.1136+327A>G (n.1136+327A>G) c.685A>G c.773A>G (p.Gln258Arg) | |
| 17 | g.44352079A>T | CA8602153 | GRN | c.1244A>T (p.Gln415Leu) c.1136+327A>T (n.1136+327A>T) c.685A>T c.773A>T (p.Gln258Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352080G>A | CA500622402 | GRN | c.1245G>A (p.Gln415=) c.1136+328G>A (n.1136+328G>A) c.686G>A c.774G>A (p.Gln258=) | |
| 17 | g.44352080G>C | CA399768506 | GRN | c.1245G>C (p.Gln415His) c.1136+328G>C (n.1136+328G>C) c.686G>C c.774G>C (p.Gln258His) | |
| 17 | g.44352080G= | CA2261354489 | GRN | c.1245G= (p.Gln415=) c.1136+328G= (n.1136+328G=) c.686G= c.774G= (p.Gln258=) | |
| 17 | g.44352080G>T | CA399768508 | GRN | c.1245G>T (p.Gln415His) c.1136+328G>T (n.1136+328G>T) c.686G>T c.774G>T (p.Gln258His) | dbSNP COSMIC |
| 17 | g.44352081T>A | CA399768511 | GRN | c.1246T>A (p.Cys416Ser) c.1136+329T>A (n.1136+329T>A) c.687T>A c.775T>A (p.Cys259Ser) | |
| 17 | g.44352081T>C | CA399768513 | GRN | c.1246T>C (p.Cys416Arg) c.1136+329T>C (n.1136+329T>C) c.687T>C c.775T>C (p.Cys259Arg) | |
| 17 | g.44352081T>G | CA399768516 | GRN | c.1246T>G (p.Cys416Gly) c.1136+329T>G (n.1136+329T>G) c.687T>G c.775T>G (p.Cys259Gly) | |
| 17 | g.44352081dup | CA275537 | GRN | c.1246dup (p.Cys416LeufsTer30) c.1136+329dup (n.1136+329dup) c.687dup c.775dup (p.Cys259LeufsTer30) | ClinVar dbSNP |
| 17 | g.44352082G>A | CA399768518 | GRN | c.1247G>A (p.Cys416Tyr) c.1136+330G>A (n.1136+330G>A) c.688G>A c.776G>A (p.Cys259Tyr) | gnomAD v4 |
| 17 | g.44352082G>C | CA399768521 | GRN | c.1247G>C (p.Cys416Ser) c.1136+330G>C (n.1136+330G>C) c.688G>C c.776G>C (p.Cys259Ser) | |
| 17 | g.44352082G>T | CA399768524 | GRN | c.1247G>T (p.Cys416Phe) c.1136+330G>T (n.1136+330G>T) c.688G>T c.776G>T (p.Cys259Phe) | |
| 17 | g.44352083T>A | CA399768528 | GRN | c.1248T>A (p.Cys416Ter) c.1136+331T>A (n.1136+331T>A) c.689T>A c.777T>A (p.Cys259Ter) | |
| 17 | g.44352083T>C | CA500622403 | GRN | c.1248T>C (p.Cys416=) c.1136+331T>C (n.1136+331T>C) c.689T>C c.777T>C (p.Cys259=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44352083T>G | CA399768529 | GRN | c.1248T>G (p.Cys416Trp) c.1136+331T>G (n.1136+331T>G) c.689T>G c.777T>G (p.Cys259Trp) | |
| 17 | g.44352083T= | CA2261354490 | GRN | c.1248T= (p.Cys416=) c.1136+331T= (n.1136+331T=) c.689T= c.777T= (p.Cys259=) | |
| 17 | g.44352084C>A | CA399768536 | GRN | c.1249C>A (p.Gln417Lys) c.1136+332C>A (n.1136+332C>A) c.690C>A c.778C>A (p.Gln260Lys) | |
| 17 | g.44352084C>G | CA399768538 | GRN | c.1249C>G (p.Gln417Glu) c.1136+332C>G (n.1136+332C>G) c.690C>G c.778C>G (p.Gln260Glu) | |
| 17 | g.44352084C>T | CA399768533 | GRN | c.1249C>T (p.Gln417Ter) c.1136+332C>T (n.1136+332C>T) c.690C>T c.778C>T (p.Gln260Ter) | gnomAD v4 |
| 17 | g.44352085A>C | CA399768542 | GRN | c.1250A>C (p.Gln417Pro) c.1136+333A>C (n.1136+333A>C) c.691A>C c.779A>C (p.Gln260Pro) | |
| 17 | g.44352085A>G | CA399768544 | GRN | c.1250A>G (p.Gln417Arg) c.1136+333A>G (n.1136+333A>G) c.691A>G c.779A>G (p.Gln260Arg) | |
| 17 | g.44352085A>T | CA399768546 | GRN | c.1250A>T (p.Gln417Leu) c.1136+333A>T (n.1136+333A>T) c.691A>T c.779A>T (p.Gln260Leu) | |
| 17 | g.44352091_44352098dup | CA2695226238 | GRN | c.1256_1263dup (p.Ile422GlufsTer?) c.1136+339_1136+346dup (n.1136+339_1136+346dup) c.697_704dup c.785_792dup (p.Ile265GlufsTer?) | |
| 17 | g.44352086G>A | CA500622406 | GRN | c.1251G>A (p.Gln417=) c.1136+334G>A (n.1136+334G>A) c.692G>A c.780G>A (p.Gln260=) | |
| 17 | g.44352086G>C | CA399768550 | GRN | c.1251G>C (p.Gln417His) c.1136+334G>C (n.1136+334G>C) c.692G>C c.780G>C (p.Gln260His) | |
| 17 | g.44352086G>T | CA399768553 | GRN | c.1251G>T (p.Gln417His) c.1136+334G>T (n.1136+334G>T) c.692G>T c.780G>T (p.Gln260His) | |
| 17 | g.44352087_44352088del | CA2809588877 | GRN | c.1252_1253del (p.Gly419LysfsTer26) c.1136+335_1136+336del (n.1136+335_1136+336del) c.693_694del c.781_782del (p.Gly262LysfsTer26) | |
| 17 | g.44352087C>A | CA8602155 | GRN | c.1252C>A (p.Arg418=) c.1136+335C>A (n.1136+335C>A) c.693C>A c.781C>A (p.Arg261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352087C= | CA2261354491 | GRN | c.1252C= (p.Arg418=) c.1136+335C= (n.1136+335C=) c.693C= c.781C= (p.Arg261=) | |
| 17 | g.44352087C>G | CA8602154 | GRN | c.1252C>G (p.Arg418Gly) c.1136+335C>G (n.1136+335C>G) c.693C>G c.781C>G (p.Arg261Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352087C>T | CA225327 | GRN | c.1252C>T (p.Arg418Ter) c.1136+335C>T (n.1136+335C>T) c.693C>T c.781C>T (p.Arg261Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44352088G>A | CA225330 | GRN | c.1253G>A (p.Arg418Gln) c.1136+336G>A (n.1136+336G>A) c.694G>A c.782G>A (p.Arg261Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352088G>C | CA399768566 | GRN | c.1253G>C (p.Arg418Pro) c.1136+336G>C (n.1136+336G>C) c.694G>C c.782G>C (p.Arg261Pro) | ClinVar gnomAD v4 |
| 17 | g.44352088G= | CA2261354492 | GRN | c.1253G= (p.Arg418=) c.1136+336G= (n.1136+336G=) c.694G= c.782G= (p.Arg261=) | |
| 17 | g.44352088G>T | CA399768569 | GRN | c.1253G>T (p.Arg418Leu) c.1136+336G>T (n.1136+336G>T) c.694G>T c.782G>T (p.Arg261Leu) | |
| 17 | g.44352089A>C | CA500622408 | GRN | c.1254A>C (p.Arg418=) c.1136+337A>C (n.1136+337A>C) c.695A>C c.783A>C (p.Arg261=) | gnomAD v4 |
| 17 | g.44352089A>G | CA500622409 | GRN | c.1254A>G (p.Arg418=) c.1136+337A>G (n.1136+337A>G) c.695A>G c.783A>G (p.Arg261=) | dbSNP |
| 17 | g.44352089A>T | CA500622410 | GRN | c.1254A>T (p.Arg418=) c.1136+337A>T (n.1136+337A>T) c.695A>T c.783A>T (p.Arg261=) | |
| 17 | g.44352090G>A | CA399768573 | GRN | c.1255G>A (p.Gly419Arg) c.1136+338G>A (n.1136+338G>A) c.696G>A c.784G>A (p.Gly262Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352090G>C | CA399768575 | GRN | c.1255G>C (p.Gly419Arg) c.1136+338G>C (n.1136+338G>C) c.696G>C c.784G>C (p.Gly262Arg) | |
| 17 | g.44352090G= | CA2261354493 | GRN | c.1255G= (p.Gly419=) c.1136+338G= (n.1136+338G=) c.696G= c.784G= (p.Gly262=) | |
| 17 | g.44352090G>T | CA399768578 | GRN | c.1255G>T (p.Gly419Ter) c.1136+338G>T (n.1136+338G>T) c.696G>T c.784G>T (p.Gly262Ter) | |
| 17 | g.44352091_44352092insGGG | CA2809588878 | GRN | c.1256_1257insGGG (p.Gly419_Ser420insGly) c.1136+339_1136+340insGGG (n.1136+339_1136+340insGGG) c.697_698insGGG c.785_786insGGG (p.Gly262_Ser263insGly) | |
| 17 | g.44352091G>A | CA399768581 | GRN | c.1256G>A (p.Gly419Glu) c.1136+339G>A (n.1136+339G>A) c.697G>A c.785G>A (p.Gly262Glu) | dbSNP |
| 17 | g.44352091G>C | CA399768587 | GRN | c.1256G>C (p.Gly419Ala) c.1136+339G>C (n.1136+339G>C) c.697G>C c.785G>C (p.Gly262Ala) | |
| 17 | g.44352091G>T | CA399768584 | GRN | c.1256G>T (p.Gly419Val) c.1136+339G>T (n.1136+339G>T) c.697G>T c.785G>T (p.Gly262Val) | |
| 17 | g.44352092A>C | CA500622191 | GRN | c.1257A>C (p.Gly419=) c.1136+340A>C (n.1136+340A>C) c.698A>C c.786A>C (p.Gly262=) | |
| 17 | g.44352092A>G | CA500622188 | GRN | c.1257A>G (p.Gly419=) c.1136+340A>G (n.1136+340A>G) c.698A>G c.786A>G (p.Gly262=) | |
| 17 | g.44352092A>T | CA500622190 | GRN | c.1257A>T (p.Gly419=) c.1136+340A>T (n.1136+340A>T) c.698A>T c.786A>T (p.Gly262=) | |
| 17 | g.44352093A= | CA2261354494 | GRN | c.1258A= (p.Ser420=) c.1136+341A= (n.1136+341A=) c.699A= c.787A= (p.Ser263=) | |
| 17 | g.44352093A>C | CA399768589 | GRN | c.1258A>C (p.Ser420Arg) c.1136+341A>C (n.1136+341A>C) c.699A>C c.787A>C (p.Ser263Arg) | |
| 17 | g.44352093A>G | CA399768600 | GRN | c.1258A>G (p.Ser420Gly) c.1136+341A>G (n.1136+341A>G) c.699A>G c.787A>G (p.Ser263Gly) | |
| 17 | g.44352093A>T | CA8602156 | GRN | c.1258A>T (p.Ser420Cys) c.1136+341A>T (n.1136+341A>T) c.699A>T c.787A>T (p.Ser263Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352094G>A | CA399768604 | GRN | c.1259G>A (p.Ser420Asn) c.1136+342G>A (n.1136+342G>A) c.700G>A c.788G>A (p.Ser263Asn) | ClinVar |
| 17 | g.44352094G>C | CA399768606 | GRN | c.1259G>C (p.Ser420Thr) c.1136+342G>C (n.1136+342G>C) c.700G>C c.788G>C (p.Ser263Thr) | |
| 17 | g.44352094G>T | CA399768609 | GRN | c.1259G>T (p.Ser420Ile) c.1136+342G>T (n.1136+342G>T) c.700G>T c.788G>T (p.Ser263Ile) | |
| 17 | g.44352095C>A | CA399768612 | GRN | c.1260C>A (p.Ser420Arg) c.1136+343C>A (n.1136+343C>A) c.701C>A c.789C>A (p.Ser263Arg) | gnomAD v4 |
| 17 | g.44352095C= | CA2261354495 | GRN | c.1260C= (p.Ser420=) c.1136+343C= (n.1136+343C=) c.701C= c.789C= (p.Ser263=) | |
| 17 | g.44352095C>G | CA399768615 | GRN | c.1260C>G (p.Ser420Arg) c.1136+343C>G (n.1136+343C>G) c.701C>G c.789C>G (p.Ser263Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352095C>T | CA8602157 | GRN | c.1260C>T (p.Ser420=) c.1136+343C>T (n.1136+343C>T) c.701C>T c.789C>T (p.Ser263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352096del | CA2809588879 | GRN | c.1261del (p.Glu421ArgfsTer?) c.1136+344del (n.1136+344del) c.702del c.790del (p.Glu264ArgfsTer?) | |
| 17 | g.44352096G>A | CA8602158 | GRN | c.1261G>A (p.Glu421Lys) c.1136+344G>A (n.1136+344G>A) c.702G>A c.790G>A (p.Glu264Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352096G>C | CA399768620 | GRN | c.1261G>C (p.Glu421Gln) c.1136+344G>C (n.1136+344G>C) c.702G>C c.790G>C (p.Glu264Gln) | gnomAD v4 |
| 17 | g.44352096G= | CA2261354496 | GRN | c.1261G= (p.Glu421=) c.1136+344G= (n.1136+344G=) c.702G= c.790G= (p.Glu264=) | |
| 17 | g.44352096G>T | CA399768623 | GRN | c.1261G>T (p.Glu421Ter) c.1136+344G>T (n.1136+344G>T) c.702G>T c.790G>T (p.Glu264Ter) | |
| 17 | g.44352097A>C | CA399768634 | GRN | c.1262A>C (p.Glu421Ala) c.1136+345A>C (n.1136+345A>C) c.703A>C c.791A>C (p.Glu264Ala) | |
| 17 | g.44352097A>G | CA399768631 | GRN | c.1262A>G (p.Glu421Gly) c.1136+345A>G (n.1136+345A>G) c.703A>G c.791A>G (p.Glu264Gly) | |
| 17 | g.44352097A>T | CA399768628 | GRN | c.1262A>T (p.Glu421Val) c.1136+345A>T (n.1136+345A>T) c.703A>T c.791A>T (p.Glu264Val) | |
| 17 | g.44352097_44352103delinsAGATCGT | CA2261354497 | GRN | c.1262_1268delinsAGATCGT (p.Glu421=) c.1136+345_1136+351delinsAGATCGT (n.1136+345_1136+351delinsAGATCGT) c.703_709delinsAGATCGT c.791_797delinsAGATCGT (p.Glu264=) | |
| 17 | g.44352098G>A | CA500622199 | GRN | c.1263G>A (p.Glu421=) c.1136+346G>A (n.1136+346G>A) c.704G>A c.792G>A (p.Glu264=) | gnomAD v4 |
| 17 | g.44352098G>C | CA399768638 | GRN | c.1263G>C (p.Glu421Asp) c.1136+346G>C (n.1136+346G>C) c.704G>C c.792G>C (p.Glu264Asp) | |
| 17 | g.44352098G>T | CA399768636 | GRN | c.1263G>T (p.Glu421Asp) c.1136+346G>T (n.1136+346G>T) c.704G>T c.792G>T (p.Glu264Asp) | |
| 17 | g.44352099_44352104del | CA772283120 | GRN | c.1264_1269del (p.Ile422_Val423del) c.1136+347_1136+352del (n.1136+347_1136+352del) c.705_710del c.793_798del (p.Ile265_Val266del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352099A>C | CA399768647 | GRN | c.1264A>C (p.Ile422Leu) c.1136+347A>C (n.1136+347A>C) c.705A>C c.793A>C (p.Ile265Leu) | |
| 17 | g.44352099A>G | CA399768641 | GRN | c.1264A>G (p.Ile422Val) c.1136+347A>G (n.1136+347A>G) c.705A>G c.793A>G (p.Ile265Val) | |
| 17 | g.44352099A>T | CA399768644 | GRN | c.1264A>T (p.Ile422Phe) c.1136+347A>T (n.1136+347A>T) c.705A>T c.793A>T (p.Ile265Phe) | |
| 17 | g.44352100T>A | CA399768651 | GRN | c.1265T>A (p.Ile422Asn) c.1136+348T>A (n.1136+348T>A) c.706T>A c.794T>A (p.Ile265Asn) | |
| 17 | g.44352100T>C | CA399768654 | GRN | c.1265T>C (p.Ile422Thr) c.1136+348T>C (n.1136+348T>C) c.706T>C c.794T>C (p.Ile265Thr) | |
| 17 | g.44352100T>G | CA399768658 | GRN | c.1265T>G (p.Ile422Ser) c.1136+348T>G (n.1136+348T>G) c.706T>G c.794T>G (p.Ile265Ser) | |
| 17 | g.44352101C>A | CA500622203 | GRN | c.1266C>A (p.Ile422=) c.1136+349C>A (n.1136+349C>A) c.707C>A c.795C>A (p.Ile265=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44352101C= | CA2261354498 | GRN | c.1266C= (p.Ile422=) c.1136+349C= (n.1136+349C=) c.707C= c.795C= (p.Ile265=) | |
| 17 | g.44352101C>G | CA399768659 | GRN | c.1266C>G (p.Ile422Met) c.1136+349C>G (n.1136+349C>G) c.707C>G c.795C>G (p.Ile265Met) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352101C>T | CA8602159 | GRN | c.1266C>T (p.Ile422=) c.1136+349C>T (n.1136+349C>T) c.707C>T c.795C>T (p.Ile265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352101_44352102insACA | CA2809588880 | GRN | c.1266_1267insACA (p.Ile422_Val423insThr) c.1136+349_1136+350insACA (n.1136+349_1136+350insACA) c.707_708insACA c.795_796insACA (p.Ile265_Val266insThr) | |
| 17 | g.44352102G>A | CA8602160 | GRN | c.1267G>A (p.Val423Met) c.1136+350G>A (n.1136+350G>A) c.708G>A c.796G>A (p.Val266Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352102G>C | CA399768666 | GRN | c.1267G>C (p.Val423Leu) c.1136+350G>C (n.1136+350G>C) c.708G>C c.796G>C (p.Val266Leu) | |
| 17 | g.44352102G= | CA2261354499 | GRN | c.1267G= (p.Val423=) c.1136+350G= (n.1136+350G=) c.708G= c.796G= (p.Val266=) | |
| 17 | g.44352102G>T | CA399768668 | GRN | c.1267G>T (p.Val423Leu) c.1136+350G>T (n.1136+350G>T) c.708G>T c.796G>T (p.Val266Leu) | |
| 17 | g.44352103T>A | CA399768672 | GRN | c.1268T>A (p.Val423Glu) c.1136+351T>A (n.1136+351T>A) c.709T>A c.797T>A (p.Val266Glu) | |
| 17 | g.44352103T>C | CA399768674 | GRN | c.1268T>C (p.Val423Ala) c.1136+351T>C (n.1136+351T>C) c.709T>C c.797T>C (p.Val266Ala) | |
| 17 | g.44352103T>G | CA399768678 | GRN | c.1268T>G (p.Val423Gly) c.1136+351T>G (n.1136+351T>G) c.709T>G c.797T>G (p.Val266Gly) | |
| 17 | g.44352104G>A | CA500622207 | GRN | c.1269G>A (p.Val423=) c.1136+352G>A (n.1136+352G>A) c.710G>A c.798G>A (p.Val266=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352104G>C | CA500622208 | GRN | c.1269G>C (p.Val423=) c.1136+352G>C (n.1136+352G>C) c.710G>C c.798G>C (p.Val266=) | |
| 17 | g.44352104G= | CA2261354500 | GRN | c.1269G= (p.Val423=) c.1136+352G= (n.1136+352G=) c.710G= c.798G= (p.Val266=) | |
| 17 | g.44352104G>T | CA500622209 | GRN | c.1269G>T (p.Val423=) c.1136+352G>T (n.1136+352G>T) c.710G>T c.798G>T (p.Val266=) | |
| 17 | g.44352105G>A | CA399768687 | GRN | c.1270G>A (p.Ala424Thr) c.1136+353G>A (n.1136+353G>A) c.711G>A c.799G>A (p.Ala267Thr) | dbSNP gnomAD v4 |
| 17 | g.44352105G>C | CA399768681 | GRN | c.1270G>C (p.Ala424Pro) c.1136+353G>C (n.1136+353G>C) c.711G>C c.799G>C (p.Ala267Pro) | |
| 17 | g.44352105G= | CA2261354501 | GRN | c.1270G= (p.Ala424=) c.1136+353G= (n.1136+353G=) c.711G= c.799G= (p.Ala267=) | |
| 17 | g.44352105G>T | CA399768684 | GRN | c.1270G>T (p.Ala424Ser) c.1136+353G>T (n.1136+353G>T) c.711G>T c.799G>T (p.Ala267Ser) | |
| 17 | g.44352106C>A | CA399768691 | GRN | c.1271C>A (p.Ala424Asp) c.1136+354C>A (n.1136+354C>A) c.712C>A c.800C>A (p.Ala267Asp) | |
| 17 | g.44352106C= | CA2261354502 | GRN | c.1271C= (p.Ala424=) c.1136+354C= (n.1136+354C=) c.712C= c.800C= (p.Ala267=) | |
| 17 | g.44352106C>G | CA399768693 | GRN | c.1271C>G (p.Ala424Gly) c.1136+354C>G (n.1136+354C>G) c.712C>G c.800C>G (p.Ala267Gly) | |
| 17 | g.44352106C>T | CA399768696 | GRN | c.1271C>T (p.Ala424Val) c.1136+354C>T (n.1136+354C>T) c.712C>T c.800C>T (p.Ala267Val) | dbSNP |
| 17 | g.44352107T>A | CA500622212 | GRN | c.1272T>A (p.Ala424=) c.1136+355T>A (n.1136+355T>A) c.713T>A c.801T>A (p.Ala267=) | gnomAD v4 |
| 17 | g.44352107T>C | CA500622213 | GRN | c.1272T>C (p.Ala424=) c.1136+355T>C (n.1136+355T>C) c.713T>C c.801T>C (p.Ala267=) | |
| 17 | g.44352107T>G | CA500622214 | GRN | c.1272T>G (p.Ala424=) c.1136+355T>G (n.1136+355T>G) c.713T>G c.801T>G (p.Ala267=) | |
| 17 | g.44352108G>A | CA399768699 | GRN | c.1273G>A (p.Gly425Arg) c.1136+356G>A (n.1136+356G>A) c.714G>A c.802G>A (p.Gly268Arg) | |
| 17 | g.44352108G>C | CA399768702 | GRN | c.1273G>C (p.Gly425Arg) c.1136+356G>C (n.1136+356G>C) c.714G>C c.802G>C (p.Gly268Arg) | |
| 17 | g.44352108G>T | CA399768705 | GRN | c.1273G>T (p.Gly425Ter) c.1136+356G>T (n.1136+356G>T) c.714G>T c.802G>T (p.Gly268Ter) | |
| 17 | g.44352109G>A | CA399768708 | GRN | c.1274G>A (p.Gly425Glu) c.1136+357G>A (n.1136+357G>A) c.715G>A c.803G>A (p.Gly268Glu) | gnomAD v4 |
| 17 | g.44352109G>C | CA399768711 | GRN | c.1274G>C (p.Gly425Ala) c.1136+357G>C (n.1136+357G>C) c.715G>C c.803G>C (p.Gly268Ala) | gnomAD v4 |
| 17 | g.44352109G>T | CA399768713 | GRN | c.1274G>T (p.Gly425Val) c.1136+357G>T (n.1136+357G>T) c.715G>T c.803G>T (p.Gly268Val) | |
| 17 | g.44352110A= | CA2261354503 | GRN | c.1275A= (p.Gly425=) c.1136+358A= (n.1136+358A=) c.716A= c.804A= (p.Gly268=) | |
| 17 | g.44352110A>C | CA500622221 | GRN | c.1275A>C (p.Gly425=) c.1136+358A>C (n.1136+358A>C) c.716A>C c.804A>C (p.Gly268=) | |
| 17 | g.44352110A>G | CA500622219 | GRN | c.1275A>G (p.Gly425=) c.1136+358A>G (n.1136+358A>G) c.716A>G c.804A>G (p.Gly268=) | dbSNP |
| 17 | g.44352110A>T | CA500622218 | GRN | c.1275A>T (p.Gly425=) c.1136+358A>T (n.1136+358A>T) c.716A>T c.804A>T (p.Gly268=) | |
| 17 | g.44352111C>A | CA399768717 | GRN | c.1276C>A (p.Leu426Met) c.1136+359C>A (n.1136+359C>A) c.717C>A c.805C>A (p.Leu269Met) | |
| 17 | g.44352111C= | CA2261354504 | GRN | c.1276C= (p.Leu426=) c.1136+359C= (n.1136+359C=) c.717C= c.805C= (p.Leu269=) | |
| 17 | g.44352111C>G | CA8602161 | GRN | c.1276C>G (p.Leu426Val) c.1136+359C>G (n.1136+359C>G) c.717C>G c.805C>G (p.Leu269Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352111C>T | CA500622223 | GRN | c.1276C>T (p.Leu426=) c.1136+359C>T (n.1136+359C>T) c.717C>T c.805C>T (p.Leu269=) | |
| 17 | g.44352112T>A | CA399768727 | GRN | c.1277T>A (p.Leu426Gln) c.1136+360T>A (n.1136+360T>A) c.718T>A c.806T>A (p.Leu269Gln) | |
| 17 | g.44352112T>C | CA399768724 | GRN | c.1277T>C (p.Leu426Pro) c.1136+360T>C (n.1136+360T>C) c.718T>C c.806T>C (p.Leu269Pro) | dbSNP |
| 17 | g.44352112T>G | CA399768721 | GRN | c.1277T>G (p.Leu426Arg) c.1136+360T>G (n.1136+360T>G) c.718T>G c.806T>G (p.Leu269Arg) | |
| 17 | g.44352112T= | CA2261354505 | GRN | c.1277T= (p.Leu426=) c.1136+360T= (n.1136+360T=) c.718T= c.806T= (p.Leu269=) | |
| 17 | g.44352113G>A | CA290926716 | GRN | c.1278G>A (p.Leu426=) c.1136+361G>A (n.1136+361G>A) c.719G>A c.807G>A (p.Leu269=) | dbSNP gnomAD v4 |
| 17 | g.44352113G>C | CA500622225 | GRN | c.1278G>C (p.Leu426=) c.1136+361G>C (n.1136+361G>C) c.719G>C c.807G>C (p.Leu269=) | |
| 17 | g.44352113G= | CA2261354506 | GRN | c.1278G= (p.Leu426=) c.1136+361G= (n.1136+361G=) c.719G= c.807G= (p.Leu269=) | |
| 17 | g.44352113G>T | CA500622226 | GRN | c.1278G>T (p.Leu426=) c.1136+361G>T (n.1136+361G>T) c.719G>T c.807G>T (p.Leu269=) | |
| 17 | g.44352114G>A | CA399768728 | GRN | c.1279G>A (p.Glu427Lys) c.1136+362G>A (n.1136+362G>A) c.720G>A c.808G>A (p.Glu270Lys) | |
| 17 | g.44352114G>C | CA399768730 | GRN | c.1279G>C (p.Glu427Gln) c.1136+362G>C (n.1136+362G>C) c.720G>C c.808G>C (p.Glu270Gln) | |
| 17 | g.44352114G>T | CA399768732 | GRN | c.1279G>T (p.Glu427Ter) c.1136+362G>T (n.1136+362G>T) c.720G>T c.808G>T (p.Glu270Ter) | |
| 17 | g.44352115A= | CA2261354507 | GRN | c.1280A= (p.Glu427=) c.1136+363A= (n.1136+363A=) c.721A= c.809A= (p.Glu270=) | |
| 17 | g.44352115A>C | CA399768734 | GRN | c.1280A>C (p.Glu427Ala) c.1136+363A>C (n.1136+363A>C) c.721A>C c.809A>C (p.Glu270Ala) | |
| 17 | g.44352115A>G | CA399768736 | GRN | c.1280A>G (p.Glu427Gly) c.1136+363A>G (n.1136+363A>G) c.721A>G c.809A>G (p.Glu270Gly) | dbSNP |
| 17 | g.44352115A>T | CA399768738 | GRN | c.1280A>T (p.Glu427Val) c.1136+363A>T (n.1136+363A>T) c.721A>T c.809A>T (p.Glu270Val) | |
| 17 | g.44352116G>A | CA8602162 | GRN | c.1281G>A (p.Glu427=) c.1136+364G>A (n.1136+364G>A) c.722G>A c.810G>A (p.Glu270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352116G>C | CA399768741 | GRN | c.1281G>C (p.Glu427Asp) c.1136+364G>C (n.1136+364G>C) c.722G>C c.810G>C (p.Glu270Asp) | |
| 17 | g.44352116G= | CA2261354508 | GRN | c.1281G= (p.Glu427=) c.1136+364G= (n.1136+364G=) c.722G= c.810G= (p.Glu270=) | |
| 17 | g.44352116G>T | CA399768743 | GRN | c.1281G>T (p.Glu427Asp) c.1136+364G>T (n.1136+364G>T) c.722G>T c.810G>T (p.Glu270Asp) | |
| 17 | g.44352117A>C | CA399768745 | GRN | c.1282A>C (p.Lys428Gln) c.1136+365A>C (n.1136+365A>C) c.723A>C c.811A>C (p.Lys271Gln) | |
| 17 | g.44352117A>G | CA399768746 | GRN | c.1282A>G (p.Lys428Glu) c.1136+365A>G (n.1136+365A>G) c.723A>G c.811A>G (p.Lys271Glu) | |
| 17 | g.44352117A>T | CA399768747 | GRN | c.1282A>T (p.Lys428Ter) c.1136+365A>T (n.1136+365A>T) c.723A>T c.811A>T (p.Lys271Ter) | |
| 17 | g.44352118A>C | CA399768751 | GRN | c.1283A>C (p.Lys428Thr) c.1136+366A>C (n.1136+366A>C) c.724A>C c.812A>C (p.Lys271Thr) | |
| 17 | g.44352118A>G | CA399768753 | GRN | c.1283A>G (p.Lys428Arg) c.1136+366A>G (n.1136+366A>G) c.724A>G c.812A>G (p.Lys271Arg) | |
| 17 | g.44352118A>T | CA399768750 | GRN | c.1283A>T (p.Lys428Met) c.1136+366A>T (n.1136+366A>T) c.724A>T c.812A>T (p.Lys271Met) | |
| 17 | g.44352119G>A | CA500622233 | GRN | c.1284G>A (p.Lys428=) c.1136+367G>A (n.1136+367G>A) c.725G>A c.813G>A (p.Lys271=) | |
| 17 | g.44352119G>C | CA399768755 | GRN | c.1284G>C (p.Lys428Asn) c.1136+367G>C (n.1136+367G>C) c.725G>C c.813G>C (p.Lys271Asn) | |
| 17 | g.44352119G>T | CA399768756 | GRN | c.1284G>T (p.Lys428Asn) c.1136+367G>T (n.1136+367G>T) c.725G>T c.813G>T (p.Lys271Asn) | |
| 17 | g.44352120A>C | CA399768758 | GRN | c.1285A>C (p.Met429Leu) c.1136+368A>C (n.1136+368A>C) c.726A>C c.814A>C (p.Met272Leu) | |
| 17 | g.44352120A>G | CA399768759 | GRN | c.1285A>G (p.Met429Val) c.1136+368A>G (n.1136+368A>G) c.726A>G c.814A>G (p.Met272Val) | |
| 17 | g.44352120A>T | CA399768760 | GRN | c.1285A>T (p.Met429Leu) c.1136+368A>T (n.1136+368A>T) c.726A>T c.814A>T (p.Met272Leu) | |
| 17 | g.44352121T>A | CA399768764 | GRN | c.1286T>A (p.Met429Lys) c.1136+369T>A (n.1136+369T>A) c.727T>A c.815T>A (p.Met272Lys) | |
| 17 | g.44352121T>C | CA399768761 | GRN | c.1286T>C (p.Met429Thr) c.1136+369T>C (n.1136+369T>C) c.727T>C c.815T>C (p.Met272Thr) | gnomAD v4 |
| 17 | g.44352121T>G | CA399768762 | GRN | c.1286T>G (p.Met429Arg) c.1136+369T>G (n.1136+369T>G) c.727T>G c.815T>G (p.Met272Arg) | |
| 17 | g.44352122G>A | CA290926717 | GRN | c.1287G>A (p.Met429Ile) c.1136+370G>A (n.1136+370G>A) c.728G>A c.816G>A (p.Met272Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352122G>C | CA399768765 | GRN | c.1287G>C (p.Met429Ile) c.1136+370G>C (n.1136+370G>C) c.728G>C c.816G>C (p.Met272Ile) | |
| 17 | g.44352122G= | CA2261354509 | GRN | c.1287G= (p.Met429=) c.1136+370G= (n.1136+370G=) c.728G= c.816G= (p.Met272=) | |
| 17 | g.44352122G>T | CA399768767 | GRN | c.1287G>T (p.Met429Ile) c.1136+370G>T (n.1136+370G>T) c.728G>T c.816G>T (p.Met272Ile) | COSMIC |
| 17 | g.44352123C>A | CA399768769 | GRN | c.1288C>A (p.Pro430Thr) c.1136+371C>A (n.1136+371C>A) c.729C>A c.817C>A (p.Pro273Thr) | gnomAD v4 |
| 17 | g.44352123C= | CA2261354510 | GRN | c.1288C= (p.Pro430=) c.1136+371C= (n.1136+371C=) c.729C= c.817C= (p.Pro273=) | |
| 17 | g.44352123C>G | CA8602163 | GRN | c.1288C>G (p.Pro430Ala) c.1136+371C>G (n.1136+371C>G) c.729C>G c.817C>G (p.Pro273Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352123C>T | CA399768771 | GRN | c.1288C>T (p.Pro430Ser) c.1136+371C>T (n.1136+371C>T) c.729C>T c.817C>T (p.Pro273Ser) | |
| 17 | g.44352124C>A | CA399768773 | GRN | c.1289C>A (p.Pro430His) c.1136+372C>A (n.1136+372C>A) c.730C>A c.818C>A (p.Pro273His) | |
| 17 | g.44352124C>G | CA399768774 | GRN | c.1289C>G (p.Pro430Arg) c.1136+372C>G (n.1136+372C>G) c.730C>G c.818C>G (p.Pro273Arg) | |
| 17 | g.44352124C>T | CA399768772 | GRN | c.1289C>T (p.Pro430Leu) c.1136+372C>T (n.1136+372C>T) c.730C>T c.818C>T (p.Pro273Leu) | gnomAD v4 |
| 17 | g.44352125T>A | CA500622239 | GRN | c.1290T>A (p.Pro430=) c.1136+373T>A (n.1136+373T>A) c.731T>A c.819T>A (p.Pro273=) | |
| 17 | g.44352125T>C | CA500622240 | GRN | c.1290T>C (p.Pro430=) c.1136+373T>C (n.1136+373T>C) c.731T>C c.819T>C (p.Pro273=) | gnomAD v4 |
| 17 | g.44352125T>G | CA500622241 | GRN | c.1290T>G (p.Pro430=) c.1136+373T>G (n.1136+373T>G) c.731T>G c.819T>G (p.Pro273=) | |
| 17 | g.44352126G>A | CA399768775 | GRN | c.1291G>A (p.Ala431Thr) c.1136+374G>A (n.1136+374G>A) c.732G>A c.820G>A (p.Ala274Thr) | |
| 17 | g.44352126G>C | CA399768777 | GRN | c.1291G>C (p.Ala431Pro) c.1136+374G>C (n.1136+374G>C) c.732G>C c.820G>C (p.Ala274Pro) | |
| 17 | g.44352126G>T | CA399768776 | GRN | c.1291G>T (p.Ala431Ser) c.1136+374G>T (n.1136+374G>T) c.732G>T c.820G>T (p.Ala274Ser) |