| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.44352127C>A | CA399768778 | GRN | c.1292C>A (p.Ala431Asp) c.1136+375C>A (n.1136+375C>A) c.733C>A c.821C>A (p.Ala274Asp) | |
| 17 | g.44352127C>G | CA399768779 | GRN | c.1292C>G (p.Ala431Gly) c.1136+375C>G (n.1136+375C>G) c.733C>G c.821C>G (p.Ala274Gly) | |
| 17 | g.44352127C>T | CA399768780 | GRN | c.1292C>T (p.Ala431Val) c.1136+375C>T (n.1136+375C>T) c.733C>T c.821C>T (p.Ala274Val) | COSMIC |
| 17 | g.44352128C>A | CA500622244 | GRN | c.1293C>A (p.Ala431=) c.1136+376C>A (n.1136+376C>A) c.734C>A c.822C>A (p.Ala274=) | |
| 17 | g.44352128C= | CA2261354511 | GRN | c.1293C= (p.Ala431=) c.1136+376C= (n.1136+376C=) c.734C= c.822C= (p.Ala274=) | |
| 17 | g.44352128C>G | CA500622245 | GRN | c.1293C>G (p.Ala431=) c.1136+376C>G (n.1136+376C>G) c.734C>G c.822C>G (p.Ala274=) | |
| 17 | g.44352128C>T | CA8602164 | GRN | c.1293C>T (p.Ala431=) c.1136+376C>T (n.1136+376C>T) c.734C>T c.822C>T (p.Ala274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352129C>A | CA399768781 | GRN | c.1294C>A (p.Arg432Ser) c.1136+377C>A (n.1136+377C>A) c.735C>A c.823C>A (p.Arg275Ser) | |
| 17 | g.44352129C= | CA2261354512 | GRN | c.1294C= (p.Arg432=) c.1136+377C= (n.1136+377C=) c.735C= c.823C= (p.Arg275=) | |
| 17 | g.44352129C>G | CA8602165 | GRN | c.1294C>G (p.Arg432Gly) c.1136+377C>G (n.1136+377C>G) c.735C>G c.823C>G (p.Arg275Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352129C>T | CA225333 | GRN | c.1294C>T (p.Arg432Cys) c.1136+377C>T (n.1136+377C>T) c.735C>T c.823C>T (p.Arg275Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |