| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31462634G>A | CA395733440 | ARMC5 | c.1087G>A (p.Ala363Thr) c.1372G>A (p.Ala458Thr) c.595G>A (p.Ala199Thr) c.213-138G>A c.1183G>A (p.Ala395Thr) | |
| 16 | g.31462634G>C | CA395733442 | ARMC5 | c.1087G>C (p.Ala363Pro) c.1372G>C (p.Ala458Pro) c.595G>C (p.Ala199Pro) c.213-138G>C c.1183G>C (p.Ala395Pro) | |
| 16 | g.31462634G>T | CA395733441 | ARMC5 | c.1087G>T (p.Ala363Ser) c.1372G>T (p.Ala458Ser) c.595G>T (p.Ala199Ser) c.213-138G>T c.1183G>T (p.Ala395Ser) | |
| 16 | g.31462635C>A | CA395733443 | ARMC5 | c.1088C>A (p.Ala363Asp) c.1373C>A (p.Ala458Asp) c.596C>A (p.Ala199Asp) c.213-137C>A c.1184C>A (p.Ala395Asp) | |
| 16 | g.31462635C= | CA2217060713 | ARMC5 | c.1088C= (p.Ala363=) c.1373C= (p.Ala458=) c.596C= (p.Ala199=) c.213-137C= c.1184C= (p.Ala395=) | |
| 16 | g.31462635C>G | CA395733445 | ARMC5 | c.1088C>G (p.Ala363Gly) c.1373C>G (p.Ala458Gly) c.596C>G (p.Ala199Gly) c.213-137C>G c.1184C>G (p.Ala395Gly) | |
| 16 | g.31462635C>T | CA395733444 | ARMC5 | c.1088C>T (p.Ala363Val) c.1373C>T (p.Ala458Val) c.596C>T (p.Ala199Val) c.213-137C>T c.1184C>T (p.Ala395Val) | |
| 16 | g.31462636C>A | CA494934121 | ARMC5 | c.1089C>A (p.Ala363=) c.1374C>A (p.Ala458=) c.597C>A (p.Ala199=) c.213-136C>A c.1185C>A (p.Ala395=) | |
| 16 | g.31462636C>G | CA494934122 | ARMC5 | c.1089C>G (p.Ala363=) c.1374C>G (p.Ala458=) c.597C>G (p.Ala199=) c.213-136C>G c.1185C>G (p.Ala395=) | |
| 16 | g.31462636C>T | CA494934123 | ARMC5 | c.1089C>T (p.Ala363=) c.1374C>T (p.Ala458=) c.597C>T (p.Ala199=) c.213-136C>T c.1185C>T (p.Ala395=) | gnomAD v4 |
| 16 | g.31462637_31462643dup | CA622173978 | ARMC5 | c.1090_1096dup (p.Arg366ProfsTer?) c.1375_1381dup (p.Arg461ProfsTer?) c.598_604dup (p.Arg202ProfsTer?) c.213-135_213-129dup c.1186_1192dup (p.Arg398ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462637C>A | CA494934124 | ARMC5 | c.1090C>A (p.Arg364=) c.1375C>A (p.Arg459=) c.598C>A (p.Arg200=) c.213-135C>A c.1186C>A (p.Arg396=) | |
| 16 | g.31462637C= | CA2217060714 | ARMC5 | c.1090C= (p.Arg364=) c.1375C= (p.Arg459=) c.598C= (p.Arg200=) c.213-135C= c.1186C= (p.Arg396=) | |
| 16 | g.31462637C>G | CA395733446 | ARMC5 | c.1090C>G (p.Arg364Gly) c.1375C>G (p.Arg459Gly) c.598C>G (p.Arg200Gly) c.213-135C>G c.1186C>G (p.Arg396Gly) | |
| 16 | g.31462637C>T | CA395733447 | ARMC5 | c.1090C>T (p.Arg364Ter) c.1375C>T (p.Arg459Ter) c.598C>T (p.Arg200Ter) c.213-135C>T c.1186C>T (p.Arg396Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462638G>A | CA8029602 | ARMC5 | c.1091G>A (p.Arg364Gln) c.1376G>A (p.Arg459Gln) c.599G>A (p.Arg200Gln) c.213-134G>A c.1187G>A (p.Arg396Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462638G>C | CA395733449 | ARMC5 | c.1091G>C (p.Arg364Pro) c.1376G>C (p.Arg459Pro) c.599G>C (p.Arg200Pro) c.213-134G>C c.1187G>C (p.Arg396Pro) | |
| 16 | g.31462638G= | CA2217060715 | ARMC5 | c.1091G= (p.Arg364=) c.1376G= (p.Arg459=) c.599G= (p.Arg200=) c.213-134G= c.1187G= (p.Arg396=) | |
| 16 | g.31462638G>T | CA395733448 | ARMC5 | c.1091G>T (p.Arg364Leu) c.1376G>T (p.Arg459Leu) c.599G>T (p.Arg200Leu) c.213-134G>T c.1187G>T (p.Arg396Leu) | dbSNP |
| 16 | g.31462639A>C | CA494934125 | ARMC5 | c.1092A>C (p.Arg364=) c.1377A>C (p.Arg459=) c.600A>C (p.Arg200=) c.213-133A>C c.1188A>C (p.Arg396=) | |
| 16 | g.31462639A>G | CA494934127 | ARMC5 | c.1092A>G (p.Arg364=) c.1377A>G (p.Arg459=) c.600A>G (p.Arg200=) c.213-133A>G c.1188A>G (p.Arg396=) | gnomAD v4 |
| 16 | g.31462639A>T | CA494934126 | ARMC5 | c.1092A>T (p.Arg364=) c.1377A>T (p.Arg459=) c.600A>T (p.Arg200=) c.213-133A>T c.1188A>T (p.Arg396=) | |
| 16 | g.31462640C>A | CA395733450 | ARMC5 | c.1093C>A (p.Leu365Met) c.1378C>A (p.Leu460Met) c.601C>A (p.Leu201Met) c.213-132C>A c.1189C>A (p.Leu397Met) | |
| 16 | g.31462640C= | CA2217060716 | ARMC5 | c.1093C= (p.Leu365=) c.1378C= (p.Leu460=) c.601C= (p.Leu201=) c.213-132C= c.1189C= (p.Leu397=) | |
| 16 | g.31462640C>G | CA395733451 | ARMC5 | c.1093C>G (p.Leu365Val) c.1378C>G (p.Leu460Val) c.601C>G (p.Leu201Val) c.213-132C>G c.1189C>G (p.Leu397Val) | |
| 16 | g.31462640C>T | CA8029603 | ARMC5 | c.1093C>T (p.Leu365=) c.1378C>T (p.Leu460=) c.601C>T (p.Leu201=) c.213-132C>T c.1189C>T (p.Leu397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462641T>A | CA395733452 | ARMC5 | c.1094T>A (p.Leu365Gln) c.1379T>A (p.Leu460Gln) c.602T>A (p.Leu201Gln) c.213-131T>A c.1190T>A (p.Leu397Gln) | |
| 16 | g.31462641T>C | CA170623 | ARMC5 | c.1094T>C (p.Leu365Pro) c.1379T>C (p.Leu460Pro) c.602T>C (p.Leu201Pro) c.213-131T>C c.1190T>C (p.Leu397Pro) | ClinVar dbSNP |
| 16 | g.31462641T>G | CA395733453 | ARMC5 | c.1094T>G (p.Leu365Arg) c.1379T>G (p.Leu460Arg) c.602T>G (p.Leu201Arg) c.213-131T>G c.1190T>G (p.Leu397Arg) | |
| 16 | g.31462641T= | CA2217060717 | ARMC5 | c.1094T= (p.Leu365=) c.1379T= (p.Leu460=) c.602T= (p.Leu201=) c.213-131T= c.1190T= (p.Leu397=) | |
| 16 | g.31462642G>A | CA494934128 | ARMC5 | c.1095G>A (p.Leu365=) c.1380G>A (p.Leu460=) c.603G>A (p.Leu201=) c.213-130G>A c.1191G>A (p.Leu397=) | gnomAD v4 |
| 16 | g.31462642G>C | CA494934129 | ARMC5 | c.1095G>C (p.Leu365=) c.1380G>C (p.Leu460=) c.603G>C (p.Leu201=) c.213-130G>C c.1191G>C (p.Leu397=) | |
| 16 | g.31462642G>T | CA494934130 | ARMC5 | c.1095G>T (p.Leu365=) c.1380G>T (p.Leu460=) c.603G>T (p.Leu201=) c.213-130G>T c.1191G>T (p.Leu397=) | |
| 16 | g.31462643C>A | CA494934131 | ARMC5 | c.1096C>A (p.Arg366=) c.1381C>A (p.Arg461=) c.604C>A (p.Arg202=) c.213-129C>A c.1192C>A (p.Arg398=) | |
| 16 | g.31462643C= | CA2217060718 | ARMC5 | c.1096C= (p.Arg366=) c.1381C= (p.Arg461=) c.604C= (p.Arg202=) c.213-129C= c.1192C= (p.Arg398=) | |
| 16 | g.31462643C>G | CA395733454 | ARMC5 | c.1096C>G (p.Arg366Gly) c.1381C>G (p.Arg461Gly) c.604C>G (p.Arg202Gly) c.213-129C>G c.1192C>G (p.Arg398Gly) | |
| 16 | g.31462643C>T | CA395733455 | ARMC5 | c.1096C>T (p.Arg366Trp) c.1381C>T (p.Arg461Trp) c.604C>T (p.Arg202Trp) c.213-129C>T c.1192C>T (p.Arg398Trp) | dbSNP gnomAD v4 COSMIC COSMIC |
| 16 | g.31462644G>A | CA395733456 | ARMC5 | c.1097G>A (p.Arg366Gln) c.1382G>A (p.Arg461Gln) c.605G>A (p.Arg202Gln) c.213-128G>A c.1193G>A (p.Arg398Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462644G>C | CA395733457 | ARMC5 | c.1097G>C (p.Arg366Pro) c.1382G>C (p.Arg461Pro) c.605G>C (p.Arg202Pro) c.213-128G>C c.1193G>C (p.Arg398Pro) | |
| 16 | g.31462644G= | CA2217060719 | ARMC5 | c.1097G= (p.Arg366=) c.1382G= (p.Arg461=) c.605G= (p.Arg202=) c.213-128G= c.1193G= (p.Arg398=) | |
| 16 | g.31462644G>T | CA395733458 | ARMC5 | c.1097G>T (p.Arg366Leu) c.1382G>T (p.Arg461Leu) c.605G>T (p.Arg202Leu) c.213-128G>T c.1193G>T (p.Arg398Leu) | |
| 16 | g.31462645G>A | CA494934132 | ARMC5 | c.1098G>A (p.Arg366=) c.1383G>A (p.Arg461=) c.606G>A (p.Arg202=) c.213-127G>A c.1194G>A (p.Arg398=) | |
| 16 | g.31462645G>C | CA494934133 | ARMC5 | c.1098G>C (p.Arg366=) c.1383G>C (p.Arg461=) c.606G>C (p.Arg202=) c.213-127G>C c.1194G>C (p.Arg398=) | |
| 16 | g.31462645G>T | CA494934134 | ARMC5 | c.1098G>T (p.Arg366=) c.1383G>T (p.Arg461=) c.606G>T (p.Arg202=) c.213-127G>T c.1194G>T (p.Arg398=) | |
| 16 | g.31462646G>A | CA395733461 | ARMC5 | c.1099G>A (p.Asp367Asn) c.1384G>A (p.Asp462Asn) c.607G>A (p.Asp203Asn) c.213-126G>A c.1195G>A (p.Asp399Asn) | |
| 16 | g.31462646G>C | CA395733460 | ARMC5 | c.1099G>C (p.Asp367His) c.1384G>C (p.Asp462His) c.607G>C (p.Asp203His) c.213-126G>C c.1195G>C (p.Asp399His) | |
| 16 | g.31462646G>T | CA395733459 | ARMC5 | c.1099G>T (p.Asp367Tyr) c.1384G>T (p.Asp462Tyr) c.607G>T (p.Asp203Tyr) c.213-126G>T c.1195G>T (p.Asp399Tyr) | gnomAD v4 COSMIC COSMIC |
| 16 | g.31462647A>C | CA395733462 | ARMC5 | c.1100A>C (p.Asp367Ala) c.1385A>C (p.Asp462Ala) c.608A>C (p.Asp203Ala) c.213-125A>C c.1196A>C (p.Asp399Ala) | |
| 16 | g.31462647A>G | CA395733463 | ARMC5 | c.1100A>G (p.Asp367Gly) c.1385A>G (p.Asp462Gly) c.608A>G (p.Asp203Gly) c.213-125A>G c.1196A>G (p.Asp399Gly) | |
| 16 | g.31462647A>T | CA395733464 | ARMC5 | c.1100A>T (p.Asp367Val) c.1385A>T (p.Asp462Val) c.608A>T (p.Asp203Val) c.213-125A>T c.1196A>T (p.Asp399Val) | gnomAD v4 |
| 16 | g.31462648T>A | CA395733465 | ARMC5 | c.1101T>A (p.Asp367Glu) c.1386T>A (p.Asp462Glu) c.609T>A (p.Asp203Glu) c.213-124T>A c.1197T>A (p.Asp399Glu) | |
| 16 | g.31462648T>C | CA494934135 | ARMC5 | c.1101T>C (p.Asp367=) c.1386T>C (p.Asp462=) c.609T>C (p.Asp203=) c.213-124T>C c.1197T>C (p.Asp399=) | |
| 16 | g.31462648T>G | CA395733466 | ARMC5 | c.1101T>G (p.Asp367Glu) c.1386T>G (p.Asp462Glu) c.609T>G (p.Asp203Glu) c.213-124T>G c.1197T>G (p.Asp399Glu) | |
| 16 | g.31462649G>A | CA395733467 | ARMC5 | c.1102G>A (p.Ala368Thr) c.1387G>A (p.Ala463Thr) c.610G>A (p.Ala204Thr) c.213-123G>A c.1198G>A (p.Ala400Thr) | gnomAD v4 |
| 16 | g.31462649G>C | CA395733468 | ARMC5 | c.1102G>C (p.Ala368Pro) c.1387G>C (p.Ala463Pro) c.610G>C (p.Ala204Pro) c.213-123G>C c.1198G>C (p.Ala400Pro) | |
| 16 | g.31462649G= | CA2217060720 | ARMC5 | c.1102G= (p.Ala368=) c.1387G= (p.Ala463=) c.610G= (p.Ala204=) c.213-123G= c.1198G= (p.Ala400=) | |
| 16 | g.31462649G>T | CA8029604 | ARMC5 | c.1102G>T (p.Ala368Ser) c.1387G>T (p.Ala463Ser) c.610G>T (p.Ala204Ser) c.213-123G>T c.1198G>T (p.Ala400Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462650C>A | CA395733469 | ARMC5 | c.1103C>A (p.Ala368Asp) c.1388C>A (p.Ala463Asp) c.611C>A (p.Ala204Asp) c.213-122C>A c.1199C>A (p.Ala400Asp) | |
| 16 | g.31462650C>G | CA395733470 | ARMC5 | c.1103C>G (p.Ala368Gly) c.1388C>G (p.Ala463Gly) c.611C>G (p.Ala204Gly) c.213-122C>G c.1199C>G (p.Ala400Gly) | |
| 16 | g.31462650C>T | CA395733471 | ARMC5 | c.1103C>T (p.Ala368Val) c.1388C>T (p.Ala463Val) c.611C>T (p.Ala204Val) c.213-122C>T c.1199C>T (p.Ala400Val) | gnomAD v4 |
| 16 | g.31462651T>A | CA494934136 | ARMC5 | c.1104T>A (p.Ala368=) c.1389T>A (p.Ala463=) c.612T>A (p.Ala204=) c.213-121T>A c.1200T>A (p.Ala400=) | |
| 16 | g.31462651T>C | CA494934137 | ARMC5 | c.1104T>C (p.Ala368=) c.1389T>C (p.Ala463=) c.612T>C (p.Ala204=) c.213-121T>C c.1200T>C (p.Ala400=) | gnomAD v4 |
| 16 | g.31462651T>G | CA494934138 | ARMC5 | c.1104T>G (p.Ala368=) c.1389T>G (p.Ala463=) c.612T>G (p.Ala204=) c.213-121T>G c.1200T>G (p.Ala400=) | |
| 16 | g.31462652G>A | CA395733474 | ARMC5 | c.1105G>A (p.Gly369Ser) c.1390G>A (p.Gly464Ser) c.613G>A (p.Gly205Ser) c.213-120G>A c.1201G>A (p.Gly401Ser) | |
| 16 | g.31462652G>C | CA395733473 | ARMC5 | c.1105G>C (p.Gly369Arg) c.1390G>C (p.Gly464Arg) c.613G>C (p.Gly205Arg) c.213-120G>C c.1201G>C (p.Gly401Arg) | |
| 16 | g.31462652G>T | CA395733472 | ARMC5 | c.1105G>T (p.Gly369Cys) c.1390G>T (p.Gly464Cys) c.613G>T (p.Gly205Cys) c.213-120G>T c.1201G>T (p.Gly401Cys) | |
| 16 | g.31462653G>A | CA395733475 | ARMC5 | c.1106G>A (p.Gly369Asp) c.1391G>A (p.Gly464Asp) c.614G>A (p.Gly205Asp) c.213-119G>A c.1202G>A (p.Gly401Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462653G>C | CA395733476 | ARMC5 | c.1106G>C (p.Gly369Ala) c.1391G>C (p.Gly464Ala) c.614G>C (p.Gly205Ala) c.213-119G>C c.1202G>C (p.Gly401Ala) | |
| 16 | g.31462653G>T | CA395733477 | ARMC5 | c.1106G>T (p.Gly369Val) c.1391G>T (p.Gly464Val) c.614G>T (p.Gly205Val) c.213-119G>T c.1202G>T (p.Gly401Val) | |
| 16 | g.31462654T>A | CA494933567 | ARMC5 | c.1107T>A (p.Gly369=) c.1392T>A (p.Gly464=) c.615T>A (p.Gly205=) c.213-118T>A c.1203T>A (p.Gly401=) | |
| 16 | g.31462654T>C | CA494933569 | ARMC5 | c.1107T>C (p.Gly369=) c.1392T>C (p.Gly464=) c.615T>C (p.Gly205=) c.213-118T>C c.1203T>C (p.Gly401=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462654T>G | CA494933570 | ARMC5 | c.1107T>G (p.Gly369=) c.1392T>G (p.Gly464=) c.615T>G (p.Gly205=) c.213-118T>G c.1203T>G (p.Gly401=) | |
| 16 | g.31462654T= | CA2217060721 | ARMC5 | c.1107T= (p.Gly369=) c.1392T= (p.Gly464=) c.615T= (p.Gly205=) c.213-118T= c.1203T= (p.Gly401=) | |
| 16 | g.31462655G>A | CA395733478 | ARMC5 | c.1108G>A (p.Gly370Ser) c.1393G>A (p.Gly465Ser) c.616G>A (p.Gly206Ser) c.213-117G>A c.1204G>A (p.Gly402Ser) | |
| 16 | g.31462655G>C | CA395733479 | ARMC5 | c.1108G>C (p.Gly370Arg) c.1393G>C (p.Gly465Arg) c.616G>C (p.Gly206Arg) c.213-117G>C c.1204G>C (p.Gly402Arg) | |
| 16 | g.31462655G>T | CA395733480 | ARMC5 | c.1108G>T (p.Gly370Cys) c.1393G>T (p.Gly465Cys) c.616G>T (p.Gly206Cys) c.213-117G>T c.1204G>T (p.Gly402Cys) | |
| 16 | g.31462656G>A | CA395733481 | ARMC5 | c.1109G>A (p.Gly370Asp) c.1394G>A (p.Gly465Asp) c.617G>A (p.Gly206Asp) c.213-116G>A c.1205G>A (p.Gly402Asp) | |
| 16 | g.31462656G>C | CA395733482 | ARMC5 | c.1109G>C (p.Gly370Ala) c.1394G>C (p.Gly465Ala) c.617G>C (p.Gly206Ala) c.213-116G>C c.1205G>C (p.Gly402Ala) | |
| 16 | g.31462656G>T | CA395733483 | ARMC5 | c.1109G>T (p.Gly370Val) c.1394G>T (p.Gly465Val) c.617G>T (p.Gly206Val) c.213-116G>T c.1205G>T (p.Gly402Val) | gnomAD v4 |
| 16 | g.31462657C>A | CA494933574 | ARMC5 | c.1110C>A (p.Gly370=) c.1395C>A (p.Gly465=) c.618C>A (p.Gly206=) c.213-115C>A c.1206C>A (p.Gly402=) | |
| 16 | g.31462657C= | CA2217060722 | ARMC5 | c.1110C= (p.Gly370=) c.1395C= (p.Gly465=) c.618C= (p.Gly206=) c.213-115C= c.1206C= (p.Gly402=) | |
| 16 | g.31462657C>G | CA494933575 | ARMC5 | c.1110C>G (p.Gly370=) c.1395C>G (p.Gly465=) c.618C>G (p.Gly206=) c.213-115C>G c.1206C>G (p.Gly402=) | |
| 16 | g.31462657C>T | CA494933576 | ARMC5 | c.1110C>T (p.Gly370=) c.1395C>T (p.Gly465=) c.618C>T (p.Gly206=) c.213-115C>T c.1206C>T (p.Gly402=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462658T>A | CA395733484 | ARMC5 | c.1111T>A (p.Leu371Met) c.1396T>A (p.Leu466Met) c.619T>A (p.Leu207Met) c.213-114T>A c.1207T>A (p.Leu403Met) | |
| 16 | g.31462658T>C | CA494933581 | ARMC5 | c.1111T>C (p.Leu371=) c.1396T>C (p.Leu466=) c.619T>C (p.Leu207=) c.213-114T>C c.1207T>C (p.Leu403=) | |
| 16 | g.31462658T>G | CA395733485 | ARMC5 | c.1111T>G (p.Leu371Val) c.1396T>G (p.Leu466Val) c.619T>G (p.Leu207Val) c.213-114T>G c.1207T>G (p.Leu403Val) | |
| 16 | g.31462659T>A | CA395733488 | ARMC5 | c.1112T>A (p.Leu371Ter) c.1397T>A (p.Leu466Ter) c.620T>A (p.Leu207Ter) c.213-113T>A c.1208T>A (p.Leu403Ter) | |
| 16 | g.31462659T>C | CA395733487 | ARMC5 | c.1112T>C (p.Leu371Ser) c.1397T>C (p.Leu466Ser) c.620T>C (p.Leu207Ser) c.213-113T>C c.1208T>C (p.Leu403Ser) | |
| 16 | g.31462659T>G | CA395733486 | ARMC5 | c.1112T>G (p.Leu371Trp) c.1397T>G (p.Leu466Trp) c.620T>G (p.Leu207Trp) c.213-113T>G c.1208T>G (p.Leu403Trp) | |
| 16 | g.31462660G>A | CA494933584 | ARMC5 | c.1113G>A (p.Leu371=) c.1398G>A (p.Leu466=) c.621G>A (p.Leu207=) c.213-112G>A c.1209G>A (p.Leu403=) | |
| 16 | g.31462660G>C | CA395733489 | ARMC5 | c.1113G>C (p.Leu371Phe) c.1398G>C (p.Leu466Phe) c.621G>C (p.Leu207Phe) c.213-112G>C c.1209G>C (p.Leu403Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462660G= | CA2217060723 | ARMC5 | c.1113G= (p.Leu371=) c.1398G= (p.Leu466=) c.621G= (p.Leu207=) c.213-112G= c.1209G= (p.Leu403=) | |
| 16 | g.31462660G>T | CA395733490 | ARMC5 | c.1113G>T (p.Leu371Phe) c.1398G>T (p.Leu466Phe) c.621G>T (p.Leu207Phe) c.213-112G>T c.1209G>T (p.Leu403Phe) | |
| 16 | g.31462661G>A | CA395733491 | ARMC5 | c.1114G>A (p.Asp372Asn) c.1399G>A (p.Asp467Asn) c.622G>A (p.Asp208Asn) c.213-111G>A c.1210G>A (p.Asp404Asn) | |
| 16 | g.31462661G>C | CA395733492 | ARMC5 | c.1114G>C (p.Asp372His) c.1399G>C (p.Asp467His) c.622G>C (p.Asp208His) c.213-111G>C c.1210G>C (p.Asp404His) | |
| 16 | g.31462661G>T | CA395733493 | ARMC5 | c.1114G>T (p.Asp372Tyr) c.1399G>T (p.Asp467Tyr) c.622G>T (p.Asp208Tyr) c.213-111G>T c.1210G>T (p.Asp404Tyr) | |
| 16 | g.31462662A>C | CA395733494 | ARMC5 | c.1115A>C (p.Asp372Ala) c.1400A>C (p.Asp467Ala) c.623A>C (p.Asp208Ala) c.213-110A>C c.1211A>C (p.Asp404Ala) | |
| 16 | g.31462662A>G | CA395733495 | ARMC5 | c.1115A>G (p.Asp372Gly) c.1400A>G (p.Asp467Gly) c.623A>G (p.Asp208Gly) c.213-110A>G c.1211A>G (p.Asp404Gly) | |
| 16 | g.31462662A>T | CA395733496 | ARMC5 | c.1115A>T (p.Asp372Val) c.1400A>T (p.Asp467Val) c.623A>T (p.Asp208Val) c.213-110A>T c.1211A>T (p.Asp404Val) | |
| 16 | g.31462663T>A | CA395733497 | ARMC5 | c.1116T>A (p.Asp372Glu) c.1401T>A (p.Asp467Glu) c.624T>A (p.Asp208Glu) c.213-109T>A c.1212T>A (p.Asp404Glu) | |
| 16 | g.31462663T>C | CA494933588 | ARMC5 | c.1116T>C (p.Asp372=) c.1401T>C (p.Asp467=) c.624T>C (p.Asp208=) c.213-109T>C c.1212T>C (p.Asp404=) | |
| 16 | g.31462663T>G | CA395733498 | ARMC5 | c.1116T>G (p.Asp372Glu) c.1401T>G (p.Asp467Glu) c.624T>G (p.Asp208Glu) c.213-109T>G c.1212T>G (p.Asp404Glu) | |
| 16 | g.31462664C>A | CA395733499 | ARMC5 | c.1117C>A (p.Leu373Ile) c.1402C>A (p.Leu468Ile) c.625C>A (p.Leu209Ile) c.213-108C>A c.1213C>A (p.Leu405Ile) | |
| 16 | g.31462664C>G | CA395733500 | ARMC5 | c.1117C>G (p.Leu373Val) c.1402C>G (p.Leu468Val) c.625C>G (p.Leu209Val) c.213-108C>G c.1213C>G (p.Leu405Val) | |
| 16 | g.31462664C>T | CA494933589 | ARMC5 | c.1117C>T (p.Leu373=) c.1402C>T (p.Leu468=) c.625C>T (p.Leu209=) c.213-108C>T c.1213C>T (p.Leu405=) | |
| 16 | g.31462665T>A | CA395733503 | ARMC5 | c.1118T>A (p.Leu373Gln) c.1403T>A (p.Leu468Gln) c.626T>A (p.Leu209Gln) c.213-107T>A c.1214T>A (p.Leu405Gln) | |
| 16 | g.31462665T>C | CA395733502 | ARMC5 | c.1118T>C (p.Leu373Pro) c.1403T>C (p.Leu468Pro) c.626T>C (p.Leu209Pro) c.213-107T>C c.1214T>C (p.Leu405Pro) | |
| 16 | g.31462665T>G | CA395733501 | ARMC5 | c.1118T>G (p.Leu373Arg) c.1403T>G (p.Leu468Arg) c.626T>G (p.Leu209Arg) c.213-107T>G c.1214T>G (p.Leu405Arg) | |
| 16 | g.31462666A>C | CA494933592 | ARMC5 | c.1119A>C (p.Leu373=) c.1404A>C (p.Leu468=) c.627A>C (p.Leu209=) c.213-106A>C c.1215A>C (p.Leu405=) | |
| 16 | g.31462666A>G | CA494933593 | ARMC5 | c.1119A>G (p.Leu373=) c.1404A>G (p.Leu468=) c.627A>G (p.Leu209=) c.213-106A>G c.1215A>G (p.Leu405=) | gnomAD v4 |
| 16 | g.31462666A>T | CA494933594 | ARMC5 | c.1119A>T (p.Leu373=) c.1404A>T (p.Leu468=) c.627A>T (p.Leu209=) c.213-106A>T c.1215A>T (p.Leu405=) | |
| 16 | g.31462667C>A | CA395733504 | ARMC5 | c.1120C>A (p.Leu374Met) c.1405C>A (p.Leu469Met) c.628C>A (p.Leu210Met) c.213-105C>A c.1216C>A (p.Leu406Met) | |
| 16 | g.31462667C>G | CA395733505 | ARMC5 | c.1120C>G (p.Leu374Val) c.1405C>G (p.Leu469Val) c.628C>G (p.Leu210Val) c.213-105C>G c.1216C>G (p.Leu406Val) | |
| 16 | g.31462667C>T | CA494933595 | ARMC5 | c.1120C>T (p.Leu374=) c.1405C>T (p.Leu469=) c.628C>T (p.Leu210=) c.213-105C>T c.1216C>T (p.Leu406=) | |
| 16 | g.31462668T>A | CA395733506 | ARMC5 | c.1121T>A (p.Leu374Gln) c.1406T>A (p.Leu469Gln) c.629T>A (p.Leu210Gln) c.213-104T>A c.1217T>A (p.Leu406Gln) | |
| 16 | g.31462668T>C | CA395733507 | ARMC5 | c.1121T>C (p.Leu374Pro) c.1406T>C (p.Leu469Pro) c.629T>C (p.Leu210Pro) c.213-104T>C c.1217T>C (p.Leu406Pro) | |
| 16 | g.31462668T>G | CA395733508 | ARMC5 | c.1121T>G (p.Leu374Arg) c.1406T>G (p.Leu469Arg) c.629T>G (p.Leu210Arg) c.213-104T>G c.1217T>G (p.Leu406Arg) | |
| 16 | g.31462669G>A | CA494933599 | ARMC5 | c.1122G>A (p.Leu374=) c.1407G>A (p.Leu469=) c.630G>A (p.Leu210=) c.213-103G>A c.1218G>A (p.Leu406=) | gnomAD v4 |
| 16 | g.31462669G>C | CA494933602 | ARMC5 | c.1122G>C (p.Leu374=) c.1407G>C (p.Leu469=) c.630G>C (p.Leu210=) c.213-103G>C c.1218G>C (p.Leu406=) | |
| 16 | g.31462669G>T | CA494933601 | ARMC5 | c.1122G>T (p.Leu374=) c.1407G>T (p.Leu469=) c.630G>T (p.Leu210=) c.213-103G>T c.1218G>T (p.Leu406=) | |
| 16 | g.31462670A>C | CA395733509 | ARMC5 | c.1123A>C (p.Met375Leu) c.1408A>C (p.Met470Leu) c.631A>C (p.Met211Leu) c.213-102A>C c.1219A>C (p.Met407Leu) | |
| 16 | g.31462670A>G | CA395733510 | ARMC5 | c.1123A>G (p.Met375Val) c.1408A>G (p.Met470Val) c.631A>G (p.Met211Val) c.213-102A>G c.1219A>G (p.Met407Val) | |
| 16 | g.31462670A>T | CA395733511 | ARMC5 | c.1123A>T (p.Met375Leu) c.1408A>T (p.Met470Leu) c.631A>T (p.Met211Leu) c.213-102A>T c.1219A>T (p.Met407Leu) | |
| 16 | g.31462671T>A | CA395733512 | ARMC5 | c.1124T>A (p.Met375Lys) c.1409T>A (p.Met470Lys) c.632T>A (p.Met211Lys) c.213-101T>A c.1220T>A (p.Met407Lys) | |
| 16 | g.31462671T>C | CA395733513 | ARMC5 | c.1124T>C (p.Met375Thr) c.1409T>C (p.Met470Thr) c.632T>C (p.Met211Thr) c.213-101T>C c.1220T>C (p.Met407Thr) | |
| 16 | g.31462671T>G | CA395733514 | ARMC5 | c.1124T>G (p.Met375Arg) c.1409T>G (p.Met470Arg) c.632T>G (p.Met211Arg) c.213-101T>G c.1220T>G (p.Met407Arg) | |
| 16 | g.31462672G>A | CA395733515 | ARMC5 | c.1125G>A (p.Met375Ile) c.1410G>A (p.Met470Ile) c.633G>A (p.Met211Ile) c.213-100G>A c.1221G>A (p.Met407Ile) | |
| 16 | g.31462672G>C | CA395733516 | ARMC5 | c.1125G>C (p.Met375Ile) c.1410G>C (p.Met470Ile) c.633G>C (p.Met211Ile) c.213-100G>C c.1221G>C (p.Met407Ile) | |
| 16 | g.31462672G>T | CA395733517 | ARMC5 | c.1125G>T (p.Met375Ile) c.1410G>T (p.Met470Ile) c.633G>T (p.Met211Ile) c.213-100G>T c.1221G>T (p.Met407Ile) | |
| 16 | g.31462673G>A | CA395733518 | ARMC5 | c.1126G>A (p.Gly376Ser) c.1411G>A (p.Gly471Ser) c.634G>A (p.Gly212Ser) c.213-99G>A c.1222G>A (p.Gly408Ser) | |
| 16 | g.31462673G>C | CA395733520 | ARMC5 | c.1126G>C (p.Gly376Arg) c.1411G>C (p.Gly471Arg) c.634G>C (p.Gly212Arg) c.213-99G>C c.1222G>C (p.Gly408Arg) | |
| 16 | g.31462673G>T | CA395733519 | ARMC5 | c.1126G>T (p.Gly376Cys) c.1411G>T (p.Gly471Cys) c.634G>T (p.Gly212Cys) c.213-99G>T c.1222G>T (p.Gly408Cys) | |
| 16 | g.31462674G>A | CA395733521 | ARMC5 | c.1127G>A (p.Gly376Asp) c.1412G>A (p.Gly471Asp) c.635G>A (p.Gly212Asp) c.213-98G>A c.1223G>A (p.Gly408Asp) | COSMIC COSMIC |
| 16 | g.31462674G>C | CA280639951 | ARMC5 | c.1127G>C (p.Gly376Ala) c.1412G>C (p.Gly471Ala) c.635G>C (p.Gly212Ala) c.213-98G>C c.1223G>C (p.Gly408Ala) | dbSNP |
| 16 | g.31462674G= | CA2217060724 | ARMC5 | c.1127G= (p.Gly376=) c.1412G= (p.Gly471=) c.635G= (p.Gly212=) c.213-98G= c.1223G= (p.Gly408=) | |
| 16 | g.31462674G>T | CA395733522 | ARMC5 | c.1127G>T (p.Gly376Val) c.1412G>T (p.Gly471Val) c.635G>T (p.Gly212Val) c.213-98G>T c.1223G>T (p.Gly408Val) | |
| 16 | g.31462675C>A | CA494933611 | ARMC5 | c.1128C>A (p.Gly376=) c.1413C>A (p.Gly471=) c.636C>A (p.Gly212=) c.213-97C>A c.1224C>A (p.Gly408=) | gnomAD v4 |
| 16 | g.31462675C>G | CA494933612 | ARMC5 | c.1128C>G (p.Gly376=) c.1413C>G (p.Gly471=) c.636C>G (p.Gly212=) c.213-97C>G c.1224C>G (p.Gly408=) | |
| 16 | g.31462675C>T | CA494933613 | ARMC5 | c.1128C>T (p.Gly376=) c.1413C>T (p.Gly471=) c.636C>T (p.Gly212=) c.213-97C>T c.1224C>T (p.Gly408=) | |
| 16 | g.31462676C>A | CA395733523 | ARMC5 | c.1129C>A (p.Leu377Met) c.1414C>A (p.Leu472Met) c.637C>A (p.Leu213Met) c.213-96C>A c.1225C>A (p.Leu409Met) | |
| 16 | g.31462676C= | CA2217060725 | ARMC5 | c.1129C= (p.Leu377=) c.1414C= (p.Leu472=) c.637C= (p.Leu213=) c.213-96C= c.1225C= (p.Leu409=) | |
| 16 | g.31462676C>G | CA395733524 | ARMC5 | c.1129C>G (p.Leu377Val) c.1414C>G (p.Leu472Val) c.637C>G (p.Leu213Val) c.213-96C>G c.1225C>G (p.Leu409Val) | gnomAD v4 |
| 16 | g.31462676C>T | CA494933614 | ARMC5 | c.1129C>T (p.Leu377=) c.1414C>T (p.Leu472=) c.637C>T (p.Leu213=) c.213-96C>T c.1225C>T (p.Leu409=) | dbSNP gnomAD v4 |
| 16 | g.31462677T>A | CA395733525 | ARMC5 | c.1130T>A (p.Leu377Gln) c.1415T>A (p.Leu472Gln) c.638T>A (p.Leu213Gln) c.213-95T>A c.1226T>A (p.Leu409Gln) | |
| 16 | g.31462677T>C | CA395733526 | ARMC5 | c.1130T>C (p.Leu377Pro) c.1415T>C (p.Leu472Pro) c.638T>C (p.Leu213Pro) c.213-95T>C c.1226T>C (p.Leu409Pro) | |
| 16 | g.31462677T>G | CA395733527 | ARMC5 | c.1130T>G (p.Leu377Arg) c.1415T>G (p.Leu472Arg) c.638T>G (p.Leu213Arg) c.213-95T>G c.1226T>G (p.Leu409Arg) | |
| 16 | g.31462678G>A | CA494933618 | ARMC5 | c.1131G>A (p.Leu377=) c.1416G>A (p.Leu472=) c.639G>A (p.Leu213=) c.213-94G>A c.1227G>A (p.Leu409=) | |
| 16 | g.31462678G>C | CA494933619 | ARMC5 | c.1131G>C (p.Leu377=) c.1416G>C (p.Leu472=) c.639G>C (p.Leu213=) c.213-94G>C c.1227G>C (p.Leu409=) | |
| 16 | g.31462678G>T | CA494933621 | ARMC5 | c.1131G>T (p.Leu377=) c.1416G>T (p.Leu472=) c.639G>T (p.Leu213=) c.213-94G>T c.1227G>T (p.Leu409=) | dbSNP |
| 16 | g.31462679C>A | CA395733528 | ARMC5 | c.1132C>A (p.Leu378Met) c.1417C>A (p.Leu473Met) c.640C>A (p.Leu214Met) c.213-93C>A c.1228C>A (p.Leu410Met) | |
| 16 | g.31462679C>G | CA395733529 | ARMC5 | c.1132C>G (p.Leu378Val) c.1417C>G (p.Leu473Val) c.640C>G (p.Leu214Val) c.213-93C>G c.1228C>G (p.Leu410Val) | |
| 16 | g.31462679C>T | CA494933622 | ARMC5 | c.1132C>T (p.Leu378=) c.1417C>T (p.Leu473=) c.640C>T (p.Leu214=) c.213-93C>T c.1228C>T (p.Leu410=) | |
| 16 | g.31462680T>A | CA395733531 | ARMC5 | c.1133T>A (p.Leu378Gln) c.1418T>A (p.Leu473Gln) c.641T>A (p.Leu214Gln) c.213-92T>A c.1229T>A (p.Leu410Gln) | |
| 16 | g.31462680T>C | CA395733532 | ARMC5 | c.1133T>C (p.Leu378Pro) c.1418T>C (p.Leu473Pro) c.641T>C (p.Leu214Pro) c.213-92T>C c.1229T>C (p.Leu410Pro) | gnomAD v4 |
| 16 | g.31462680T>G | CA395733530 | ARMC5 | c.1133T>G (p.Leu378Arg) c.1418T>G (p.Leu473Arg) c.641T>G (p.Leu214Arg) c.213-92T>G c.1229T>G (p.Leu410Arg) | |
| 16 | g.31462681G>A | CA494933626 | ARMC5 | c.1134G>A (p.Leu378=) c.1419G>A (p.Leu473=) c.642G>A (p.Leu214=) c.213-91G>A c.1230G>A (p.Leu410=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462681G>C | CA494933627 | ARMC5 | c.1134G>C (p.Leu378=) c.1419G>C (p.Leu473=) c.642G>C (p.Leu214=) c.213-91G>C c.1230G>C (p.Leu410=) | |
| 16 | g.31462681G= | CA2217060726 | ARMC5 | c.1134G= (p.Leu378=) c.1419G= (p.Leu473=) c.642G= (p.Leu214=) c.213-91G= c.1230G= (p.Leu410=) | |
| 16 | g.31462681G>T | CA280639955 | ARMC5 | c.1134G>T (p.Leu378=) c.1419G>T (p.Leu473=) c.642G>T (p.Leu214=) c.213-91G>T c.1230G>T (p.Leu410=) | dbSNP gnomAD v4 |
| 16 | g.31462682C>A | CA494933628 | ARMC5 | c.1135C>A (p.Arg379=) c.1420C>A (p.Arg474=) c.643C>A (p.Arg215=) c.213-90C>A c.1231C>A (p.Arg411=) | |
| 16 | g.31462682C= | CA2217060727 | ARMC5 | c.1135C= (p.Arg379=) c.1420C= (p.Arg474=) c.643C= (p.Arg215=) c.213-90C= c.1231C= (p.Arg411=) | |
| 16 | g.31462682C>G | CA395733533 | ARMC5 | c.1135C>G (p.Arg379Gly) c.1420C>G (p.Arg474Gly) c.643C>G (p.Arg215Gly) c.213-90C>G c.1231C>G (p.Arg411Gly) | |
| 16 | g.31462682C>T | CA8029605 | ARMC5 | c.1135C>T (p.Arg379Trp) c.1420C>T (p.Arg474Trp) c.643C>T (p.Arg215Trp) c.213-90C>T c.1231C>T (p.Arg411Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462683G>A | CA8029606 | ARMC5 | c.1136G>A (p.Arg379Gln) c.1421G>A (p.Arg474Gln) c.644G>A (p.Arg215Gln) c.213-89G>A c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462683G>C | CA395733534 | ARMC5 | c.1136G>C (p.Arg379Pro) c.1421G>C (p.Arg474Pro) c.644G>C (p.Arg215Pro) c.213-89G>C c.1232G>C (p.Arg411Pro) | |
| 16 | g.31462683G= | CA2217060728 | ARMC5 | c.1136G= (p.Arg379=) c.1421G= (p.Arg474=) c.644G= (p.Arg215=) c.213-89G= c.1232G= (p.Arg411=) | |
| 16 | g.31462683G>T | CA395733535 | ARMC5 | c.1136G>T (p.Arg379Leu) c.1421G>T (p.Arg474Leu) c.644G>T (p.Arg215Leu) c.213-89G>T c.1232G>T (p.Arg411Leu) | |
| 16 | g.31462684G>A | CA494933629 | ARMC5 | c.1137G>A (p.Arg379=) c.1422G>A (p.Arg474=) c.645G>A (p.Arg215=) c.213-88G>A c.1233G>A (p.Arg411=) | |
| 16 | g.31462684G>C | CA494933630 | ARMC5 | c.1137G>C (p.Arg379=) c.1422G>C (p.Arg474=) c.645G>C (p.Arg215=) c.213-88G>C c.1233G>C (p.Arg411=) | |
| 16 | g.31462684G>T | CA494933631 | ARMC5 | c.1137G>T (p.Arg379=) c.1422G>T (p.Arg474=) c.645G>T (p.Arg215=) c.213-88G>T c.1233G>T (p.Arg411=) | |
| 16 | g.31462685G>A | CA395733538 | ARMC5 | c.1138G>A (p.Asp380Asn) c.1423G>A (p.Asp475Asn) c.646G>A (p.Asp216Asn) c.213-87G>A c.1234G>A (p.Asp412Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462685G>C | CA395733536 | ARMC5 | c.1138G>C (p.Asp380His) c.1423G>C (p.Asp475His) c.646G>C (p.Asp216His) c.213-87G>C c.1234G>C (p.Asp412His) | |
| 16 | g.31462685G= | CA2217060729 | ARMC5 | c.1138G= (p.Asp380=) c.1423G= (p.Asp475=) c.646G= (p.Asp216=) c.213-87G= c.1234G= (p.Asp412=) | |
| 16 | g.31462685G>T | CA395733537 | ARMC5 | c.1138G>T (p.Asp380Tyr) c.1423G>T (p.Asp475Tyr) c.646G>T (p.Asp216Tyr) c.213-87G>T c.1234G>T (p.Asp412Tyr) | |
| 16 | g.31462686A>C | CA395733539 | ARMC5 | c.1139A>C (p.Asp380Ala) c.1424A>C (p.Asp475Ala) c.647A>C (p.Asp216Ala) c.213-86A>C c.1235A>C (p.Asp412Ala) | |
| 16 | g.31462686A>G | CA395733540 | ARMC5 | c.1139A>G (p.Asp380Gly) c.1424A>G (p.Asp475Gly) c.647A>G (p.Asp216Gly) c.213-86A>G c.1235A>G (p.Asp412Gly) | |
| 16 | g.31462686A>T | CA395733541 | ARMC5 | c.1139A>T (p.Asp380Val) c.1424A>T (p.Asp475Val) c.647A>T (p.Asp216Val) c.213-86A>T c.1235A>T (p.Asp412Val) | |
| 16 | g.31462687C>A | CA395733542 | ARMC5 | c.1140C>A (p.Asp380Glu) c.1425C>A (p.Asp475Glu) c.648C>A (p.Asp216Glu) c.213-85C>A c.1236C>A (p.Asp412Glu) | |
| 16 | g.31462687C>G | CA395733543 | ARMC5 | c.1140C>G (p.Asp380Glu) c.1425C>G (p.Asp475Glu) c.648C>G (p.Asp216Glu) c.213-85C>G c.1236C>G (p.Asp412Glu) | |
| 16 | g.31462687C>T | CA494933633 | ARMC5 | c.1140C>T (p.Asp380=) c.1425C>T (p.Asp475=) c.648C>T (p.Asp216=) c.213-85C>T c.1236C>T (p.Asp412=) | |
| 16 | g.31462688C>A | CA395733544 | ARMC5 | c.1141C>A (p.Pro381Thr) c.1426C>A (p.Pro476Thr) c.649C>A (p.Pro217Thr) c.213-84C>A c.1237C>A (p.Pro413Thr) | |
| 16 | g.31462688C>G | CA395733546 | ARMC5 | c.1141C>G (p.Pro381Ala) c.1426C>G (p.Pro476Ala) c.649C>G (p.Pro217Ala) c.213-84C>G c.1237C>G (p.Pro413Ala) | |
| 16 | g.31462688C>T | CA395733545 | ARMC5 | c.1141C>T (p.Pro381Ser) c.1426C>T (p.Pro476Ser) c.649C>T (p.Pro217Ser) c.213-84C>T c.1237C>T (p.Pro413Ser) | |
| 16 | g.31462689C>A | CA395733547 | ARMC5 | c.1142C>A (p.Pro381His) c.1427C>A (p.Pro476His) c.650C>A (p.Pro217His) c.213-83C>A c.1238C>A (p.Pro413His) | |
| 16 | g.31462689C>G | CA395733548 | ARMC5 | c.1142C>G (p.Pro381Arg) c.1427C>G (p.Pro476Arg) c.650C>G (p.Pro217Arg) c.213-83C>G c.1238C>G (p.Pro413Arg) | |
| 16 | g.31462689C>T | CA395733549 | ARMC5 | c.1142C>T (p.Pro381Leu) c.1427C>T (p.Pro476Leu) c.650C>T (p.Pro217Leu) c.213-83C>T c.1238C>T (p.Pro413Leu) | |
| 16 | g.31462690T>A | CA494933639 | ARMC5 | c.1143T>A (p.Pro381=) c.1428T>A (p.Pro476=) c.651T>A (p.Pro217=) c.213-82T>A c.1239T>A (p.Pro413=) | |
| 16 | g.31462690T>C | CA494933638 | ARMC5 | c.1143T>C (p.Pro381=) c.1428T>C (p.Pro476=) c.651T>C (p.Pro217=) c.213-82T>C c.1239T>C (p.Pro413=) | |
| 16 | g.31462690T>G | CA494933637 | ARMC5 | c.1143T>G (p.Pro381=) c.1428T>G (p.Pro476=) c.651T>G (p.Pro217=) c.213-82T>G c.1239T>G (p.Pro413=) | |
| 16 | g.31462691C>A | CA395733550 | ARMC5 | c.1144C>A (p.Arg382Ser) c.1429C>A (p.Arg477Ser) c.652C>A (p.Arg218Ser) c.213-81C>A c.1240C>A (p.Arg414Ser) | |
| 16 | g.31462691C= | CA2217060730 | ARMC5 | c.1144C= (p.Arg382=) c.1429C= (p.Arg477=) c.652C= (p.Arg218=) c.213-81C= c.1240C= (p.Arg414=) | |
| 16 | g.31462691C>G | CA8029607 | ARMC5 | c.1144C>G (p.Arg382Gly) c.1429C>G (p.Arg477Gly) c.652C>G (p.Arg218Gly) c.213-81C>G c.1240C>G (p.Arg414Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462691C>T | CA8029608 | ARMC5 | c.1144C>T (p.Arg382Cys) c.1429C>T (p.Arg477Cys) c.652C>T (p.Arg218Cys) c.213-81C>T c.1240C>T (p.Arg414Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462692G>A | CA8029609 | ARMC5 | c.1145G>A (p.Arg382His) c.1430G>A (p.Arg477His) c.653G>A (p.Arg218His) c.213-80G>A c.1241G>A (p.Arg414His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462692G>C | CA395733554 | ARMC5 | c.1145G>C (p.Arg382Pro) c.1430G>C (p.Arg477Pro) c.653G>C (p.Arg218Pro) c.213-80G>C c.1241G>C (p.Arg414Pro) | |
| 16 | g.31462692G= | CA2217060731 | ARMC5 | c.1145G= (p.Arg382=) c.1430G= (p.Arg477=) c.653G= (p.Arg218=) c.213-80G= c.1241G= (p.Arg414=) | |
| 16 | g.31462692G>T | CA395733555 | ARMC5 | c.1145G>T (p.Arg382Leu) c.1430G>T (p.Arg477Leu) c.653G>T (p.Arg218Leu) c.213-80G>T c.1241G>T (p.Arg414Leu) | |
| 16 | g.31462693T>A | CA494933645 | ARMC5 | c.1146T>A (p.Arg382=) c.1431T>A (p.Arg477=) c.654T>A (p.Arg218=) c.213-79T>A c.1242T>A (p.Arg414=) | |
| 16 | g.31462693T>C | CA494933646 | ARMC5 | c.1146T>C (p.Arg382=) c.1431T>C (p.Arg477=) c.654T>C (p.Arg218=) c.213-79T>C c.1242T>C (p.Arg414=) | |
| 16 | g.31462693T>G | CA494933647 | ARMC5 | c.1146T>G (p.Arg382=) c.1431T>G (p.Arg477=) c.654T>G (p.Arg218=) c.213-79T>G c.1242T>G (p.Arg414=) | |
| 16 | g.31462694G>A | CA280639977 | ARMC5 | c.1147G>A (p.Ala383Thr) c.1432G>A (p.Ala478Thr) c.655G>A (p.Ala219Thr) c.213-78G>A c.1243G>A (p.Ala415Thr) | dbSNP gnomAD v4 |
| 16 | g.31462694G>C | CA395733559 | ARMC5 | c.1147G>C (p.Ala383Pro) c.1432G>C (p.Ala478Pro) c.655G>C (p.Ala219Pro) c.213-78G>C c.1243G>C (p.Ala415Pro) | |
| 16 | g.31462694G= | CA2217060732 | ARMC5 | c.1147G= (p.Ala383=) c.1432G= (p.Ala478=) c.655G= (p.Ala219=) c.213-78G= c.1243G= (p.Ala415=) | |
| 16 | g.31462694G>T | CA395733561 | ARMC5 | c.1147G>T (p.Ala383Ser) c.1432G>T (p.Ala478Ser) c.655G>T (p.Ala219Ser) c.213-78G>T c.1243G>T (p.Ala415Ser) | |
| 16 | g.31462695C>A | CA395733565 | ARMC5 | c.1148C>A (p.Ala383Glu) c.1433C>A (p.Ala478Glu) c.656C>A (p.Ala219Glu) c.213-77C>A c.1244C>A (p.Ala415Glu) | |
| 16 | g.31462695C= | CA2217060733 | ARMC5 | c.1148C= (p.Ala383=) c.1433C= (p.Ala478=) c.656C= (p.Ala219=) c.213-77C= c.1244C= (p.Ala415=) | |
| 16 | g.31462695C>G | CA395733567 | ARMC5 | c.1148C>G (p.Ala383Gly) c.1433C>G (p.Ala478Gly) c.656C>G (p.Ala219Gly) c.213-77C>G c.1244C>G (p.Ala415Gly) | |
| 16 | g.31462695C>T | CA395733563 | ARMC5 | c.1148C>T (p.Ala383Val) c.1433C>T (p.Ala478Val) c.656C>T (p.Ala219Val) c.213-77C>T c.1244C>T (p.Ala415Val) | dbSNP gnomAD v4 |
| 16 | g.31462696A= | CA2217060734 | ARMC5 | c.1149A= (p.Ala383=) c.1434A= (p.Ala478=) c.657A= (p.Ala219=) c.213-76A= c.1245A= (p.Ala415=) | |
| 16 | g.31462696A>C | CA494933649 | ARMC5 | c.1149A>C (p.Ala383=) c.1434A>C (p.Ala478=) c.657A>C (p.Ala219=) c.213-76A>C c.1245A>C (p.Ala415=) | gnomAD v4 |
| 16 | g.31462696A>G | CA8029610 | ARMC5 | c.1149A>G (p.Ala383=) c.1434A>G (p.Ala478=) c.657A>G (p.Ala219=) c.213-76A>G c.1245A>G (p.Ala415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462696A>T | CA494933650 | ARMC5 | c.1149A>T (p.Ala383=) c.1434A>T (p.Ala478=) c.657A>T (p.Ala219=) c.213-76A>T c.1245A>T (p.Ala415=) | |
| 16 | g.31462697A>C | CA395733571 | ARMC5 | c.1150A>C (p.Ser384Arg) c.1435A>C (p.Ser479Arg) c.658A>C (p.Ser220Arg) c.213-75A>C c.1246A>C (p.Ser416Arg) | |
| 16 | g.31462697A>G | CA395733575 | ARMC5 | c.1150A>G (p.Ser384Gly) c.1435A>G (p.Ser479Gly) c.658A>G (p.Ser220Gly) c.213-75A>G c.1246A>G (p.Ser416Gly) | dbSNP |
| 16 | g.31462697A>T | CA395733573 | ARMC5 | c.1150A>T (p.Ser384Cys) c.1435A>T (p.Ser479Cys) c.658A>T (p.Ser220Cys) c.213-75A>T c.1246A>T (p.Ser416Cys) | |
| 16 | g.31462698G>A | CA395733578 | ARMC5 | c.1151G>A (p.Ser384Asn) c.1436G>A (p.Ser479Asn) c.659G>A (p.Ser220Asn) c.213-74G>A c.1247G>A (p.Ser416Asn) | gnomAD v4 |
| 16 | g.31462698G>C | CA395733579 | ARMC5 | c.1151G>C (p.Ser384Thr) c.1436G>C (p.Ser479Thr) c.659G>C (p.Ser220Thr) c.213-74G>C c.1247G>C (p.Ser416Thr) | |
| 16 | g.31462698G>T | CA395733581 | ARMC5 | c.1151G>T (p.Ser384Ile) c.1436G>T (p.Ser479Ile) c.659G>T (p.Ser220Ile) c.213-74G>T c.1247G>T (p.Ser416Ile) | |
| 16 | g.31462699C>A | CA395733583 | ARMC5 | c.1152C>A (p.Ser384Arg) c.1437C>A (p.Ser479Arg) c.660C>A (p.Ser220Arg) c.213-73C>A c.1248C>A (p.Ser416Arg) | |
| 16 | g.31462699C= | CA2217060735 | ARMC5 | c.1152C= (p.Ser384=) c.1437C= (p.Ser479=) c.660C= (p.Ser220=) c.213-73C= c.1248C= (p.Ser416=) | |
| 16 | g.31462699C>G | CA395733584 | ARMC5 | c.1152C>G (p.Ser384Arg) c.1437C>G (p.Ser479Arg) c.660C>G (p.Ser220Arg) c.213-73C>G c.1248C>G (p.Ser416Arg) | |
| 16 | g.31462699C>T | CA8029611 | ARMC5 | c.1152C>T (p.Ser384=) c.1437C>T (p.Ser479=) c.660C>T (p.Ser220=) c.213-73C>T c.1248C>T (p.Ser416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462700G>A | CA8029612 | ARMC5 | c.1153G>A (p.Ala385Thr) c.1438G>A (p.Ala480Thr) c.661G>A (p.Ala221Thr) c.213-72G>A c.1249G>A (p.Ala417Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462700G>C | CA395733588 | ARMC5 | c.1153G>C (p.Ala385Pro) c.1438G>C (p.Ala480Pro) c.661G>C (p.Ala221Pro) c.213-72G>C c.1249G>C (p.Ala417Pro) | |
| 16 | g.31462700G= | CA2217060736 | ARMC5 | c.1153G= (p.Ala385=) c.1438G= (p.Ala480=) c.661G= (p.Ala221=) c.213-72G= c.1249G= (p.Ala417=) | |
| 16 | g.31462700G>T | CA395733590 | ARMC5 | c.1153G>T (p.Ala385Ser) c.1438G>T (p.Ala480Ser) c.661G>T (p.Ala221Ser) c.213-72G>T c.1249G>T (p.Ala417Ser) | ClinVar |
| 16 | g.31462701C>A | CA395733593 | ARMC5 | c.1154C>A (p.Ala385Glu) c.1439C>A (p.Ala480Glu) c.662C>A (p.Ala221Glu) c.213-71C>A c.1250C>A (p.Ala417Glu) | |
| 16 | g.31462701C>G | CA395733594 | ARMC5 | c.1154C>G (p.Ala385Gly) c.1439C>G (p.Ala480Gly) c.662C>G (p.Ala221Gly) c.213-71C>G c.1250C>G (p.Ala417Gly) | |
| 16 | g.31462701C>T | CA395733596 | ARMC5 | c.1154C>T (p.Ala385Val) c.1439C>T (p.Ala480Val) c.662C>T (p.Ala221Val) c.213-71C>T c.1250C>T (p.Ala417Val) | |
| 16 | g.31462702A= | CA2217060737 | ARMC5 | c.1155A= (p.Ala385=) c.1440A= (p.Ala480=) c.663A= (p.Ala221=) c.213-70A= c.1251A= (p.Ala417=) | |
| 16 | g.31462702A>C | CA494933662 | ARMC5 | c.1155A>C (p.Ala385=) c.1440A>C (p.Ala480=) c.663A>C (p.Ala221=) c.213-70A>C c.1251A>C (p.Ala417=) | |
| 16 | g.31462702A>G | CA8029613 | ARMC5 | c.1155A>G (p.Ala385=) c.1440A>G (p.Ala480=) c.663A>G (p.Ala221=) c.213-70A>G c.1251A>G (p.Ala417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462702A>T | CA494933663 | ARMC5 | c.1155A>T (p.Ala385=) c.1440A>T (p.Ala480=) c.663A>T (p.Ala221=) c.213-70A>T c.1251A>T (p.Ala417=) | |
| 16 | g.31462703T>A | CA395733599 | ARMC5 | c.1156T>A (p.Trp386Arg) c.1441T>A (p.Trp481Arg) c.664T>A (p.Trp222Arg) c.213-69T>A c.1252T>A (p.Trp418Arg) | |
| 16 | g.31462703T>C | CA395733602 | ARMC5 | c.1156T>C (p.Trp386Arg) c.1441T>C (p.Trp481Arg) c.664T>C (p.Trp222Arg) c.213-69T>C c.1252T>C (p.Trp418Arg) | |
| 16 | g.31462703T>G | CA395733601 | ARMC5 | c.1156T>G (p.Trp386Gly) c.1441T>G (p.Trp481Gly) c.664T>G (p.Trp222Gly) c.213-69T>G c.1252T>G (p.Trp418Gly) | |
| 16 | g.31462704G>A | CA395733604 | ARMC5 | c.1157G>A (p.Trp386Ter) c.1442G>A (p.Trp481Ter) c.665G>A (p.Trp222Ter) c.213-68G>A c.1253G>A (p.Trp418Ter) | |
| 16 | g.31462704G>C | CA395733606 | ARMC5 | c.1157G>C (p.Trp386Ser) c.1442G>C (p.Trp481Ser) c.665G>C (p.Trp222Ser) c.213-68G>C c.1253G>C (p.Trp418Ser) | |
| 16 | g.31462704G>T | CA395733609 | ARMC5 | c.1157G>T (p.Trp386Leu) c.1442G>T (p.Trp481Leu) c.665G>T (p.Trp222Leu) c.213-68G>T c.1253G>T (p.Trp418Leu) | |
| 16 | g.31462705G>A | CA395733611 | ARMC5 | c.1158G>A (p.Trp386Ter) c.1443G>A (p.Trp481Ter) c.666G>A (p.Trp222Ter) c.213-67G>A c.1254G>A (p.Trp418Ter) | |
| 16 | g.31462705G>C | CA395733616 | ARMC5 | c.1158G>C (p.Trp386Cys) c.1443G>C (p.Trp481Cys) c.666G>C (p.Trp222Cys) c.213-67G>C c.1254G>C (p.Trp418Cys) | |
| 16 | g.31462705G>T | CA395733619 | ARMC5 | c.1158G>T (p.Trp386Cys) c.1443G>T (p.Trp481Cys) c.666G>T (p.Trp222Cys) c.213-67G>T c.1254G>T (p.Trp418Cys) | |
| 16 | g.31462706C>A | CA395733621 | ARMC5 | c.1159C>A (p.His387Asn) c.1444C>A (p.His482Asn) c.667C>A (p.His223Asn) c.213-66C>A c.1255C>A (p.His419Asn) | |
| 16 | g.31462706C>G | CA395733623 | ARMC5 | c.1159C>G (p.His387Asp) c.1444C>G (p.His482Asp) c.667C>G (p.His223Asp) c.213-66C>G c.1255C>G (p.His419Asp) | |
| 16 | g.31462706C>T | CA395733625 | ARMC5 | c.1159C>T (p.His387Tyr) c.1444C>T (p.His482Tyr) c.667C>T (p.His223Tyr) c.213-66C>T c.1255C>T (p.His419Tyr) | |
| 16 | g.31462707A>C | CA395733631 | ARMC5 | c.1160A>C (p.His387Pro) c.1445A>C (p.His482Pro) c.668A>C (p.His223Pro) c.213-65A>C c.1256A>C (p.His419Pro) | |
| 16 | g.31462707A>G | CA395733629 | ARMC5 | c.1160A>G (p.His387Arg) c.1445A>G (p.His482Arg) c.668A>G (p.His223Arg) c.213-65A>G c.1256A>G (p.His419Arg) | gnomAD v4 |
| 16 | g.31462707A>T | CA395733627 | ARMC5 | c.1160A>T (p.His387Leu) c.1445A>T (p.His482Leu) c.668A>T (p.His223Leu) c.213-65A>T c.1256A>T (p.His419Leu) | |
| 16 | g.31462708C>A | CA395733633 | ARMC5 | c.1161C>A (p.His387Gln) c.1446C>A (p.His482Gln) c.669C>A (p.His223Gln) c.213-64C>A c.1257C>A (p.His419Gln) | dbSNP |
| 16 | g.31462708C= | CA2217060738 | ARMC5 | c.1161C= (p.His387=) c.1446C= (p.His482=) c.669C= (p.His223=) c.213-64C= c.1257C= (p.His419=) | |
| 16 | g.31462708C>G | CA395733635 | ARMC5 | c.1161C>G (p.His387Gln) c.1446C>G (p.His482Gln) c.669C>G (p.His223Gln) c.213-64C>G c.1257C>G (p.His419Gln) | |
| 16 | g.31462708C>T | CA494933671 | ARMC5 | c.1161C>T (p.His387=) c.1446C>T (p.His482=) c.669C>T (p.His223=) c.213-64C>T c.1257C>T (p.His419=) | |
| 16 | g.31462710del | CA2632876639 | ARMC5 | c.1163del (p.Pro388LeufsTer?) c.1448del (p.Pro483LeufsTer?) c.671del (p.Pro224LeufsTer?) c.213-62del c.1259del (p.Pro420LeufsTer?) | gnomAD v4 |
| 16 | g.31462709C>A | CA395733637 | ARMC5 | c.1162C>A (p.Pro388Thr) c.1447C>A (p.Pro483Thr) c.670C>A (p.Pro224Thr) c.213-63C>A c.1258C>A (p.Pro420Thr) | |
| 16 | g.31462709C= | CA2217060739 | ARMC5 | c.1162C= (p.Pro388=) c.1447C= (p.Pro483=) c.670C= (p.Pro224=) c.213-63C= c.1258C= (p.Pro420=) | |
| 16 | g.31462709C>G | CA395733638 | ARMC5 | c.1162C>G (p.Pro388Ala) c.1447C>G (p.Pro483Ala) c.670C>G (p.Pro224Ala) c.213-63C>G c.1258C>G (p.Pro420Ala) | |
| 16 | g.31462709C>T | CA395733640 | ARMC5 | c.1162C>T (p.Pro388Ser) c.1447C>T (p.Pro483Ser) c.670C>T (p.Pro224Ser) c.213-63C>T c.1258C>T (p.Pro420Ser) | dbSNP |
| 16 | g.31462710C>A | CA395733643 | ARMC5 | c.1163C>A (p.Pro388His) c.1448C>A (p.Pro483His) c.671C>A (p.Pro224His) c.213-62C>A c.1259C>A (p.Pro420His) | |
| 16 | g.31462710C>G | CA395733644 | ARMC5 | c.1163C>G (p.Pro388Arg) c.1448C>G (p.Pro483Arg) c.671C>G (p.Pro224Arg) c.213-62C>G c.1259C>G (p.Pro420Arg) | gnomAD v4 |
| 16 | g.31462710C>T | CA395733646 | ARMC5 | c.1163C>T (p.Pro388Leu) c.1448C>T (p.Pro483Leu) c.671C>T (p.Pro224Leu) c.213-62C>T c.1259C>T (p.Pro420Leu) | gnomAD v4 |
| 16 | g.31462711T>A | CA494933676 | ARMC5 | c.1164T>A (p.Pro388=) c.1449T>A (p.Pro483=) c.672T>A (p.Pro224=) c.213-61T>A c.1260T>A (p.Pro420=) | |
| 16 | g.31462711T>C | CA494933678 | ARMC5 | c.1164T>C (p.Pro388=) c.1449T>C (p.Pro483=) c.672T>C (p.Pro224=) c.213-61T>C c.1260T>C (p.Pro420=) | |
| 16 | g.31462711T>G | CA494933677 | ARMC5 | c.1164T>G (p.Pro388=) c.1449T>G (p.Pro483=) c.672T>G (p.Pro224=) c.213-61T>G c.1260T>G (p.Pro420=) | |
| 16 | g.31462712C>A | CA395733648 | ARMC5 | c.1165C>A (p.Arg389Ser) c.1450C>A (p.Arg484Ser) c.673C>A (p.Arg225Ser) c.213-60C>A c.1261C>A (p.Arg421Ser) | |
| 16 | g.31462712C= | CA2217060740 | ARMC5 | c.1165C= (p.Arg389=) c.1450C= (p.Arg484=) c.673C= (p.Arg225=) c.213-60C= c.1261C= (p.Arg421=) | |
| 16 | g.31462712C>G | CA395733650 | ARMC5 | c.1165C>G (p.Arg389Gly) c.1450C>G (p.Arg484Gly) c.673C>G (p.Arg225Gly) c.213-60C>G c.1261C>G (p.Arg421Gly) | |
| 16 | g.31462712C>T | CA395733652 | ARMC5 | c.1165C>T (p.Arg389Cys) c.1450C>T (p.Arg484Cys) c.673C>T (p.Arg225Cys) c.213-60C>T c.1261C>T (p.Arg421Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462713G>A | CA395733658 | ARMC5 | c.1166G>A (p.Arg389His) c.1451G>A (p.Arg484His) c.674G>A (p.Arg225His) c.213-59G>A c.1262G>A (p.Arg421His) | gnomAD v4 |
| 16 | g.31462713G>C | CA395733656 | ARMC5 | c.1166G>C (p.Arg389Pro) c.1451G>C (p.Arg484Pro) c.674G>C (p.Arg225Pro) c.213-59G>C c.1262G>C (p.Arg421Pro) | |
| 16 | g.31462713G>T | CA395733654 | ARMC5 | c.1166G>T (p.Arg389Leu) c.1451G>T (p.Arg484Leu) c.674G>T (p.Arg225Leu) c.213-59G>T c.1262G>T (p.Arg421Leu) | |
| 16 | g.31462714T>A | CA494933681 | ARMC5 | c.1167T>A (p.Arg389=) c.1452T>A (p.Arg484=) c.675T>A (p.Arg225=) c.213-58T>A c.1263T>A (p.Arg421=) | |
| 16 | g.31462714T>C | CA494933682 | ARMC5 | c.1167T>C (p.Arg389=) c.1452T>C (p.Arg484=) c.675T>C (p.Arg225=) c.213-58T>C c.1263T>C (p.Arg421=) | |
| 16 | g.31462714T>G | CA494933683 | ARMC5 | c.1167T>G (p.Arg389=) c.1452T>G (p.Arg484=) c.675T>G (p.Arg225=) c.213-58T>G c.1263T>G (p.Arg421=) | |
| 16 | g.31462715A= | CA2217060741 | ARMC5 | c.1168A= (p.Ile390=) c.1453A= (p.Ile485=) c.676A= (p.Ile226=) c.213-57A= c.1264A= (p.Ile422=) | |
| 16 | g.31462715A>C | CA395733660 | ARMC5 | c.1168A>C (p.Ile390Leu) c.1453A>C (p.Ile485Leu) c.676A>C (p.Ile226Leu) c.213-57A>C c.1264A>C (p.Ile422Leu) | |
| 16 | g.31462715A>G | CA8029614 | ARMC5 | c.1168A>G (p.Ile390Val) c.1453A>G (p.Ile485Val) c.676A>G (p.Ile226Val) c.213-57A>G c.1264A>G (p.Ile422Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462715A>T | CA395733664 | ARMC5 | c.1168A>T (p.Ile390Phe) c.1453A>T (p.Ile485Phe) c.676A>T (p.Ile226Phe) c.213-57A>T c.1264A>T (p.Ile422Phe) | |
| 16 | g.31462716T>A | CA395733666 | ARMC5 | c.1169T>A (p.Ile390Asn) c.1454T>A (p.Ile485Asn) c.677T>A (p.Ile226Asn) c.213-56T>A c.1265T>A (p.Ile422Asn) | |
| 16 | g.31462716T>C | CA395733668 | ARMC5 | c.1169T>C (p.Ile390Thr) c.1454T>C (p.Ile485Thr) c.677T>C (p.Ile226Thr) c.213-56T>C c.1265T>C (p.Ile422Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462716T>G | CA395733670 | ARMC5 | c.1169T>G (p.Ile390Ser) c.1454T>G (p.Ile485Ser) c.677T>G (p.Ile226Ser) c.213-56T>G c.1265T>G (p.Ile422Ser) | |
| 16 | g.31462716T= | CA2217060742 | ARMC5 | c.1169T= (p.Ile390=) c.1454T= (p.Ile485=) c.677T= (p.Ile226=) c.213-56T= c.1265T= (p.Ile422=) | |
| 16 | g.31462717T>A | CA494933686 | ARMC5 | c.1170T>A (p.Ile390=) c.1455T>A (p.Ile485=) c.678T>A (p.Ile226=) c.213-55T>A c.1266T>A (p.Ile422=) | |
| 16 | g.31462717T>C | CA494933688 | ARMC5 | c.1170T>C (p.Ile390=) c.1455T>C (p.Ile485=) c.678T>C (p.Ile226=) c.213-55T>C c.1266T>C (p.Ile422=) | dbSNP gnomAD v4 |
| 16 | g.31462717T>G | CA395733672 | ARMC5 | c.1170T>G (p.Ile390Met) c.1455T>G (p.Ile485Met) c.678T>G (p.Ile226Met) c.213-55T>G c.1266T>G (p.Ile422Met) | |
| 16 | g.31462717T= | CA2217060743 | ARMC5 | c.1170T= (p.Ile390=) c.1455T= (p.Ile485=) c.678T= (p.Ile226=) c.213-55T= c.1266T= (p.Ile422=) | |
| 16 | g.31462718G>A | CA395733675 | ARMC5 | c.1171G>A (p.Val391Met) c.1456G>A (p.Val486Met) c.679G>A (p.Val227Met) c.213-54G>A c.1267G>A (p.Val423Met) | dbSNP gnomAD v4 |
| 16 | g.31462718G>C | CA395733677 | ARMC5 | c.1171G>C (p.Val391Leu) c.1456G>C (p.Val486Leu) c.679G>C (p.Val227Leu) c.213-54G>C c.1267G>C (p.Val423Leu) | |
| 16 | g.31462718G= | CA2217060744 | ARMC5 | c.1171G= (p.Val391=) c.1456G= (p.Val486=) c.679G= (p.Val227=) c.213-54G= c.1267G= (p.Val423=) | |
| 16 | g.31462718G>T | CA395733679 | ARMC5 | c.1171G>T (p.Val391Leu) c.1456G>T (p.Val486Leu) c.679G>T (p.Val227Leu) c.213-54G>T c.1267G>T (p.Val423Leu) | |
| 16 | g.31462719T>A | CA395733682 | ARMC5 | c.1172T>A (p.Val391Glu) c.1457T>A (p.Val486Glu) c.680T>A (p.Val227Glu) c.213-53T>A c.1268T>A (p.Val423Glu) | |
| 16 | g.31462719T>C | CA395733683 | ARMC5 | c.1172T>C (p.Val391Ala) c.1457T>C (p.Val486Ala) c.680T>C (p.Val227Ala) c.213-53T>C c.1268T>C (p.Val423Ala) | |
| 16 | g.31462719T>G | CA395733685 | ARMC5 | c.1172T>G (p.Val391Gly) c.1457T>G (p.Val486Gly) c.680T>G (p.Val227Gly) c.213-53T>G c.1268T>G (p.Val423Gly) | |
| 16 | g.31462720G>A | CA494933690 | ARMC5 | c.1173G>A (p.Val391=) c.1458G>A (p.Val486=) c.681G>A (p.Val227=) c.213-52G>A c.1269G>A (p.Val423=) | |
| 16 | g.31462720G>C | CA494933691 | ARMC5 | c.1173G>C (p.Val391=) c.1458G>C (p.Val486=) c.681G>C (p.Val227=) c.213-52G>C c.1269G>C (p.Val423=) | |
| 16 | g.31462720G>T | CA494933692 | ARMC5 | c.1173G>T (p.Val391=) c.1458G>T (p.Val486=) c.681G>T (p.Val227=) c.213-52G>T c.1269G>T (p.Val423=) | |
| 16 | g.31462721G>A | CA395733689 | ARMC5 | c.1174G>A (p.Ala392Thr) c.1459G>A (p.Ala487Thr) c.682G>A (p.Ala228Thr) c.213-51G>A c.1270G>A (p.Ala424Thr) | |
| 16 | g.31462721G>C | CA395733692 | ARMC5 | c.1174G>C (p.Ala392Pro) c.1459G>C (p.Ala487Pro) c.682G>C (p.Ala228Pro) c.213-51G>C c.1270G>C (p.Ala424Pro) | |
| 16 | g.31462721G>T | CA395733687 | ARMC5 | c.1174G>T (p.Ala392Ser) c.1459G>T (p.Ala487Ser) c.682G>T (p.Ala228Ser) c.213-51G>T c.1270G>T (p.Ala424Ser) | gnomAD v4 |
| 16 | g.31462722C>A | CA395733698 | ARMC5 | c.1175C>A (p.Ala392Asp) c.1460C>A (p.Ala487Asp) c.683C>A (p.Ala228Asp) c.213-50C>A c.1271C>A (p.Ala424Asp) | gnomAD v4 |
| 16 | g.31462722C>G | CA395733694 | ARMC5 | c.1175C>G (p.Ala392Gly) c.1460C>G (p.Ala487Gly) c.683C>G (p.Ala228Gly) c.213-50C>G c.1271C>G (p.Ala424Gly) | |
| 16 | g.31462722C>T | CA395733696 | ARMC5 | c.1175C>T (p.Ala392Val) c.1460C>T (p.Ala487Val) c.683C>T (p.Ala228Val) c.213-50C>T c.1271C>T (p.Ala424Val) | |
| 16 | g.31462723T>A | CA494933695 | ARMC5 | c.1176T>A (p.Ala392=) c.1461T>A (p.Ala487=) c.684T>A (p.Ala228=) c.213-49T>A c.1272T>A (p.Ala424=) | |
| 16 | g.31462723T>C | CA494933698 | ARMC5 | c.1176T>C (p.Ala392=) c.1461T>C (p.Ala487=) c.684T>C (p.Ala228=) c.213-49T>C c.1272T>C (p.Ala424=) | |
| 16 | g.31462723T>G | CA494933697 | ARMC5 | c.1176T>G (p.Ala392=) c.1461T>G (p.Ala487=) c.684T>G (p.Ala228=) c.213-49T>G c.1272T>G (p.Ala424=) | |
| 16 | g.31462724G>A | CA395733701 | ARMC5 | c.1177G>A (p.Ala393Thr) c.1462G>A (p.Ala488Thr) c.685G>A (p.Ala229Thr) c.213-48G>A c.1273G>A (p.Ala425Thr) | |
| 16 | g.31462724G>C | CA395733702 | ARMC5 | c.1177G>C (p.Ala393Pro) c.1462G>C (p.Ala488Pro) c.685G>C (p.Ala229Pro) c.213-48G>C c.1273G>C (p.Ala425Pro) | |
| 16 | g.31462724G>T | CA395733704 | ARMC5 | c.1177G>T (p.Ala393Ser) c.1462G>T (p.Ala488Ser) c.685G>T (p.Ala229Ser) c.213-48G>T c.1273G>T (p.Ala425Ser) | |
| 16 | g.31462725C>A | CA395733705 | ARMC5 | c.1178C>A (p.Ala393Asp) c.1463C>A (p.Ala488Asp) c.686C>A (p.Ala229Asp) c.213-47C>A c.1274C>A (p.Ala425Asp) | |
| 16 | g.31462725C= | CA2217060745 | ARMC5 | c.1178C= (p.Ala393=) c.1463C= (p.Ala488=) c.686C= (p.Ala229=) c.213-47C= c.1274C= (p.Ala425=) | |
| 16 | g.31462725C>G | CA8029615 | ARMC5 | c.1178C>G (p.Ala393Gly) c.1463C>G (p.Ala488Gly) c.686C>G (p.Ala229Gly) c.213-47C>G c.1274C>G (p.Ala425Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462725C>T | CA395733708 | ARMC5 | c.1178C>T (p.Ala393Val) c.1463C>T (p.Ala488Val) c.686C>T (p.Ala229Val) c.213-47C>T c.1274C>T (p.Ala425Val) | |
| 16 | g.31462726C>A | CA494933704 | ARMC5 | c.1179C>A (p.Ala393=) c.1464C>A (p.Ala488=) c.687C>A (p.Ala229=) c.213-46C>A c.1275C>A (p.Ala425=) | gnomAD v4 |
| 16 | g.31462726C>G | CA494933705 | ARMC5 | c.1179C>G (p.Ala393=) c.1464C>G (p.Ala488=) c.687C>G (p.Ala229=) c.213-46C>G c.1275C>G (p.Ala425=) | |
| 16 | g.31462726C>T | CA494933706 | ARMC5 | c.1179C>T (p.Ala393=) c.1464C>T (p.Ala488=) c.687C>T (p.Ala229=) c.213-46C>T c.1275C>T (p.Ala425=) | |
| 16 | g.31462727C>A | CA395733710 | ARMC5 | c.1180C>A (p.Leu394Ile) c.1465C>A (p.Leu489Ile) c.688C>A (p.Leu230Ile) c.213-45C>A c.1276C>A (p.Leu426Ile) | |
| 16 | g.31462727C= | CA2217060746 | ARMC5 | c.1180C= (p.Leu394=) c.1465C= (p.Leu489=) c.688C= (p.Leu230=) c.213-45C= c.1276C= (p.Leu426=) | |
| 16 | g.31462727C>G | CA395733712 | ARMC5 | c.1180C>G (p.Leu394Val) c.1465C>G (p.Leu489Val) c.688C>G (p.Leu230Val) c.213-45C>G c.1276C>G (p.Leu426Val) | |
| 16 | g.31462727C>T | CA395733714 | ARMC5 | c.1180C>T (p.Leu394Phe) c.1465C>T (p.Leu489Phe) c.688C>T (p.Leu230Phe) c.213-45C>T c.1276C>T (p.Leu426Phe) | dbSNP |
| 16 | g.31462728T>A | CA395733719 | ARMC5 | c.1181T>A (p.Leu394His) c.1466T>A (p.Leu489His) c.689T>A (p.Leu230His) c.213-44T>A c.1277T>A (p.Leu426His) | |
| 16 | g.31462728T>C | CA395733718 | ARMC5 | c.1181T>C (p.Leu394Pro) c.1466T>C (p.Leu489Pro) c.689T>C (p.Leu230Pro) c.213-44T>C c.1277T>C (p.Leu426Pro) | dbSNP |
| 16 | g.31462728T>G | CA395733716 | ARMC5 | c.1181T>G (p.Leu394Arg) c.1466T>G (p.Leu489Arg) c.689T>G (p.Leu230Arg) c.213-44T>G c.1277T>G (p.Leu426Arg) | |
| 16 | g.31462728T= | CA2217060747 | ARMC5 | c.1181T= (p.Leu394=) c.1466T= (p.Leu489=) c.689T= (p.Leu230=) c.213-44T= c.1277T= (p.Leu426=) | |
| 16 | g.31462729del | CA2632876641 | ARMC5 | c.1182del (p.Val395TrpfsTer?) c.1467del (p.Val490TrpfsTer?) c.690del (p.Val231TrpfsTer?) c.213-43del c.1278del (p.Val427TrpfsTer?) | gnomAD v4 |
| 16 | g.31462729T>A | CA494933712 | ARMC5 | c.1182T>A (p.Leu394=) c.1467T>A (p.Leu489=) c.690T>A (p.Leu230=) c.213-43T>A c.1278T>A (p.Leu426=) | |
| 16 | g.31462729T>C | CA494933713 | ARMC5 | c.1182T>C (p.Leu394=) c.1467T>C (p.Leu489=) c.690T>C (p.Leu230=) c.213-43T>C c.1278T>C (p.Leu426=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462729T>G | CA494933714 | ARMC5 | c.1182T>G (p.Leu394=) c.1467T>G (p.Leu489=) c.690T>G (p.Leu230=) c.213-43T>G c.1278T>G (p.Leu426=) | |
| 16 | g.31462729T= | CA2217060748 | ARMC5 | c.1182T= (p.Leu394=) c.1467T= (p.Leu489=) c.690T= (p.Leu230=) c.213-43T= c.1278T= (p.Leu426=) | |
| 16 | g.31462730G>A | CA395733721 | ARMC5 | c.1183G>A (p.Val395Met) c.1468G>A (p.Val490Met) c.691G>A (p.Val231Met) c.213-42G>A c.1279G>A (p.Val427Met) | gnomAD v4 |
| 16 | g.31462730G>C | CA395733723 | ARMC5 | c.1183G>C (p.Val395Leu) c.1468G>C (p.Val490Leu) c.691G>C (p.Val231Leu) c.213-42G>C c.1279G>C (p.Val427Leu) | |
| 16 | g.31462730G>T | CA395733725 | ARMC5 | c.1183G>T (p.Val395Leu) c.1468G>T (p.Val490Leu) c.691G>T (p.Val231Leu) c.213-42G>T c.1279G>T (p.Val427Leu) | |
| 16 | g.31462731T>A | CA395733727 | ARMC5 | c.1184T>A (p.Val395Glu) c.1469T>A (p.Val490Glu) c.692T>A (p.Val231Glu) c.213-41T>A c.1280T>A (p.Val427Glu) | |
| 16 | g.31462731T>C | CA395733728 | ARMC5 | c.1184T>C (p.Val395Ala) c.1469T>C (p.Val490Ala) c.692T>C (p.Val231Ala) c.213-41T>C c.1280T>C (p.Val427Ala) | |
| 16 | g.31462731T>G | CA395733731 | ARMC5 | c.1184T>G (p.Val395Gly) c.1469T>G (p.Val490Gly) c.692T>G (p.Val231Gly) c.213-41T>G c.1280T>G (p.Val427Gly) | |
| 16 | g.31462732G>A | CA494933716 | ARMC5 | c.1185G>A (p.Val395=) c.1470G>A (p.Val490=) c.693G>A (p.Val231=) c.213-40G>A c.1281G>A (p.Val427=) | dbSNP gnomAD v4 |
| 16 | g.31462732G>C | CA494933719 | ARMC5 | c.1185G>C (p.Val395=) c.1470G>C (p.Val490=) c.693G>C (p.Val231=) c.213-40G>C c.1281G>C (p.Val427=) | |
| 16 | g.31462732G= | CA2217060749 | ARMC5 | c.1185G= (p.Val395=) c.1470G= (p.Val490=) c.693G= (p.Val231=) c.213-40G= c.1281G= (p.Val427=) | |
| 16 | g.31462732G>T | CA494933721 | ARMC5 | c.1185G>T (p.Val395=) c.1470G>T (p.Val490=) c.693G>T (p.Val231=) c.213-40G>T c.1281G>T (p.Val427=) | |
| 16 | g.31462733G>A | CA395733733 | ARMC5 | c.1186G>A (p.Gly396Arg) c.1471G>A (p.Gly491Arg) c.694G>A (p.Gly232Arg) c.213-39G>A c.1282G>A (p.Gly428Arg) | |
| 16 | g.31462733G>C | CA395733735 | ARMC5 | c.1186G>C (p.Gly396Arg) c.1471G>C (p.Gly491Arg) c.694G>C (p.Gly232Arg) c.213-39G>C c.1282G>C (p.Gly428Arg) | gnomAD v4 |
| 16 | g.31462733G>T | CA395733737 | ARMC5 | c.1186G>T (p.Gly396Trp) c.1471G>T (p.Gly491Trp) c.694G>T (p.Gly232Trp) c.213-39G>T c.1282G>T (p.Gly428Trp) | COSMIC COSMIC |
| 16 | g.31462734G>A | CA8029616 | ARMC5 | c.1187G>A (p.Gly396Glu) c.1472G>A (p.Gly491Glu) c.695G>A (p.Gly232Glu) c.213-38G>A c.1283G>A (p.Gly428Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462734G>C | CA395733740 | ARMC5 | c.1187G>C (p.Gly396Ala) c.1472G>C (p.Gly491Ala) c.695G>C (p.Gly232Ala) c.213-38G>C c.1283G>C (p.Gly428Ala) | |
| 16 | g.31462734G= | CA2217060750 | ARMC5 | c.1187G= (p.Gly396=) c.1472G= (p.Gly491=) c.695G= (p.Gly232=) c.213-38G= c.1283G= (p.Gly428=) | |
| 16 | g.31462734G>T | CA395733741 | ARMC5 | c.1187G>T (p.Gly396Val) c.1472G>T (p.Gly491Val) c.695G>T (p.Gly232Val) c.213-38G>T c.1283G>T (p.Gly428Val) |