Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897050T>A | CA348047995 | EDAR,RANBP2 | c.1204A>T (p.Ser402Cys) c.1300A>T (p.Ser434Cys) c.1351A>T (p.Ser451Cys) c.1255A>T (p.Ser419Cys) c.631A>T (p.Ser211Cys) c.1444A>T (p.Ser482Cys) c.1348A>T (p.Ser450Cys) c.8370+124004T>A (n.8370+124004T>A) | |
2 | g.108897050T>C | CA348047996 | EDAR,RANBP2 | c.1204A>G (p.Ser402Gly) c.1300A>G (p.Ser434Gly) c.1351A>G (p.Ser451Gly) c.1255A>G (p.Ser419Gly) c.631A>G (p.Ser211Gly) c.1444A>G (p.Ser482Gly) c.1348A>G (p.Ser450Gly) c.8370+124004T>C (n.8370+124004T>C) | |
2 | g.108897050T>G | CA348047997 | EDAR,RANBP2 | c.1204A>C (p.Ser402Arg) c.1300A>C (p.Ser434Arg) c.1351A>C (p.Ser451Arg) c.1255A>C (p.Ser419Arg) c.631A>C (p.Ser211Arg) c.1444A>C (p.Ser482Arg) c.1348A>C (p.Ser450Arg) c.8370+124004T>G (n.8370+124004T>G) | |
2 | g.108897051G>A | CA428204054 | EDAR,RANBP2 | c.1203C>T (p.Ile401=) c.1299C>T (p.Ile433=) c.1350C>T (p.Ile450=) c.1254C>T (p.Ile418=) c.630C>T (p.Ile210=) c.1443C>T (p.Ile481=) c.1347C>T (p.Ile449=) c.8370+124005G>A (n.8370+124005G>A) | gnomAD v4 |
2 | g.108897051G>C | CA348047998 | EDAR,RANBP2 | c.1203C>G (p.Ile401Met) c.1299C>G (p.Ile433Met) c.1350C>G (p.Ile450Met) c.1254C>G (p.Ile418Met) c.630C>G (p.Ile210Met) c.1443C>G (p.Ile481Met) c.1347C>G (p.Ile449Met) c.8370+124005G>C (n.8370+124005G>C) | |
2 | g.108897051G>T | CA428204055 | EDAR,RANBP2 | c.1203C>A (p.Ile401=) c.1299C>A (p.Ile433=) c.1350C>A (p.Ile450=) c.1254C>A (p.Ile418=) c.630C>A (p.Ile210=) c.1443C>A (p.Ile481=) c.1347C>A (p.Ile449=) c.8370+124005G>T (n.8370+124005G>T) | |
2 | g.108897052A>C | CA348048001 | EDAR,RANBP2 | c.1202T>G (p.Ile401Ser) c.1298T>G (p.Ile433Ser) c.1349T>G (p.Ile450Ser) c.1253T>G (p.Ile418Ser) c.629T>G (p.Ile210Ser) c.1442T>G (p.Ile481Ser) c.1346T>G (p.Ile449Ser) c.8370+124006A>C (n.8370+124006A>C) | |
2 | g.108897052A>G | CA348047999 | EDAR,RANBP2 | c.1202T>C (p.Ile401Thr) c.1298T>C (p.Ile433Thr) c.1349T>C (p.Ile450Thr) c.1253T>C (p.Ile418Thr) c.629T>C (p.Ile210Thr) c.1442T>C (p.Ile481Thr) c.1346T>C (p.Ile449Thr) c.8370+124006A>G (n.8370+124006A>G) | ClinVar gnomAD v4 |
2 | g.108897052A>T | CA348048000 | EDAR,RANBP2 | c.1202T>A (p.Ile401Asn) c.1298T>A (p.Ile433Asn) c.1349T>A (p.Ile450Asn) c.1253T>A (p.Ile418Asn) c.629T>A (p.Ile210Asn) c.1442T>A (p.Ile481Asn) c.1346T>A (p.Ile449Asn) c.8370+124006A>T (n.8370+124006A>T) | |
2 | g.108897053T>A | CA348048002 | EDAR,RANBP2 | c.1201A>T (p.Ile401Phe) c.1297A>T (p.Ile433Phe) c.1348A>T (p.Ile450Phe) c.1252A>T (p.Ile418Phe) c.628A>T (p.Ile210Phe) c.1441A>T (p.Ile481Phe) c.1345A>T (p.Ile449Phe) c.8370+124007T>A (n.8370+124007T>A) | |
2 | g.108897053T>C | CA348048003 | EDAR,RANBP2 | c.1201A>G (p.Ile401Val) c.1297A>G (p.Ile433Val) c.1348A>G (p.Ile450Val) c.1252A>G (p.Ile418Val) c.628A>G (p.Ile210Val) c.1441A>G (p.Ile481Val) c.1345A>G (p.Ile449Val) c.8370+124007T>C (n.8370+124007T>C) | dbSNP |
2 | g.108897053T>G | CA348048004 | EDAR,RANBP2 | c.1201A>C (p.Ile401Leu) c.1297A>C (p.Ile433Leu) c.1348A>C (p.Ile450Leu) c.1252A>C (p.Ile418Leu) c.628A>C (p.Ile210Leu) c.1441A>C (p.Ile481Leu) c.1345A>C (p.Ile449Leu) c.8370+124007T>G (n.8370+124007T>G) | |
2 | g.108897053T= | CA1278354250 | EDAR,RANBP2 | c.1201A= (p.Ile401=) c.1297A= (p.Ile433=) c.1348A= (p.Ile450=) c.1252A= (p.Ile418=) c.628A= (p.Ile210=) c.1441A= (p.Ile481=) c.1345A= (p.Ile449=) c.8370+124007T= (n.8370+124007T=) | |
2 | g.108897054G>A | CA428204060 | EDAR,RANBP2 | c.1200C>T (p.Arg400=) c.1296C>T (p.Arg432=) c.1347C>T (p.Arg449=) c.1251C>T (p.Arg417=) c.627C>T (p.Arg209=) c.1440C>T (p.Arg480=) c.1344C>T (p.Arg448=) c.8370+124008G>A (n.8370+124008G>A) | |
2 | g.108897054G>C | CA428204062 | EDAR,RANBP2 | c.1200C>G (p.Arg400=) c.1296C>G (p.Arg432=) c.1347C>G (p.Arg449=) c.1251C>G (p.Arg417=) c.627C>G (p.Arg209=) c.1440C>G (p.Arg480=) c.1344C>G (p.Arg448=) c.8370+124008G>C (n.8370+124008G>C) | |
2 | g.108897054G>T | CA428204061 | EDAR,RANBP2 | c.1200C>A (p.Arg400=) c.1296C>A (p.Arg432=) c.1347C>A (p.Arg449=) c.1251C>A (p.Arg417=) c.627C>A (p.Arg209=) c.1440C>A (p.Arg480=) c.1344C>A (p.Arg448=) c.8370+124008G>T (n.8370+124008G>T) | |
2 | g.108897055C>A | CA348048005 | EDAR,RANBP2 | c.1199G>T (p.Arg400Leu) c.1295G>T (p.Arg432Leu) c.1346G>T (p.Arg449Leu) c.1250G>T (p.Arg417Leu) c.626G>T (p.Arg209Leu) c.1439G>T (p.Arg480Leu) c.1343G>T (p.Arg448Leu) c.8370+124009C>A (n.8370+124009C>A) | dbSNP gnomAD v4 |
2 | g.108897055C= | CA1278354251 | EDAR,RANBP2 | c.1199G= (p.Arg400=) c.1295G= (p.Arg432=) c.1346G= (p.Arg449=) c.1250G= (p.Arg417=) c.626G= (p.Arg209=) c.1439G= (p.Arg480=) c.1343G= (p.Arg448=) c.8370+124009C= (n.8370+124009C=) | |
2 | g.108897055C>G | CA348048006 | EDAR,RANBP2 | c.1199G>C (p.Arg400Pro) c.1295G>C (p.Arg432Pro) c.1346G>C (p.Arg449Pro) c.1250G>C (p.Arg417Pro) c.626G>C (p.Arg209Pro) c.1439G>C (p.Arg480Pro) c.1343G>C (p.Arg448Pro) c.8370+124009C>G (n.8370+124009C>G) | ClinVar |
2 | g.108897055C>T | CA1824800 | EDAR,RANBP2 | c.1199G>A (p.Arg400His) c.1295G>A (p.Arg432His) c.1346G>A (p.Arg449His) c.1250G>A (p.Arg417His) c.626G>A (p.Arg209His) c.1439G>A (p.Arg480His) c.1343G>A (p.Arg448His) c.8370+124009C>T (n.8370+124009C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897056G>A | CA1824801 | EDAR,RANBP2 | c.1198C>T (p.Arg400Cys) c.1294C>T (p.Arg432Cys) c.1345C>T (p.Arg449Cys) c.1249C>T (p.Arg417Cys) c.625C>T (p.Arg209Cys) c.1438C>T (p.Arg480Cys) c.1342C>T (p.Arg448Cys) c.8370+124010G>A (n.8370+124010G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897056G>C | CA348048007 | EDAR,RANBP2 | c.1198C>G (p.Arg400Gly) c.1294C>G (p.Arg432Gly) c.1345C>G (p.Arg449Gly) c.1249C>G (p.Arg417Gly) c.625C>G (p.Arg209Gly) c.1438C>G (p.Arg480Gly) c.1342C>G (p.Arg448Gly) c.8370+124010G>C (n.8370+124010G>C) | |
2 | g.108897056G= | CA1278354252 | EDAR,RANBP2 | c.1198C= (p.Arg400=) c.1294C= (p.Arg432=) c.1345C= (p.Arg449=) c.1249C= (p.Arg417=) c.625C= (p.Arg209=) c.1438C= (p.Arg480=) c.1342C= (p.Arg448=) c.8370+124010G= (n.8370+124010G=) | |
2 | g.108897056G>T | CA348048008 | EDAR,RANBP2 | c.1198C>A (p.Arg400Ser) c.1294C>A (p.Arg432Ser) c.1345C>A (p.Arg449Ser) c.1249C>A (p.Arg417Ser) c.625C>A (p.Arg209Ser) c.1438C>A (p.Arg480Ser) c.1342C>A (p.Arg448Ser) c.8370+124010G>T (n.8370+124010G>T) | |
2 | g.108897057G>A | CA428204067 | EDAR,RANBP2 | c.1197C>T (p.Asp399=) c.1293C>T (p.Asp431=) c.1344C>T (p.Asp448=) c.1248C>T (p.Asp416=) c.624C>T (p.Asp208=) c.1437C>T (p.Asp479=) c.1341C>T (p.Asp447=) c.8370+124011G>A (n.8370+124011G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.108897057G>C | CA348048009 | EDAR,RANBP2 | c.1197C>G (p.Asp399Glu) c.1293C>G (p.Asp431Glu) c.1344C>G (p.Asp448Glu) c.1248C>G (p.Asp416Glu) c.624C>G (p.Asp208Glu) c.1437C>G (p.Asp479Glu) c.1341C>G (p.Asp447Glu) c.8370+124011G>C (n.8370+124011G>C) | |
2 | g.108897057G= | CA1278354253 | EDAR,RANBP2 | c.1197C= (p.Asp399=) c.1293C= (p.Asp431=) c.1344C= (p.Asp448=) c.1248C= (p.Asp416=) c.624C= (p.Asp208=) c.1437C= (p.Asp479=) c.1341C= (p.Asp447=) c.8370+124011G= (n.8370+124011G=) | |
2 | g.108897057G>T | CA348048010 | EDAR,RANBP2 | c.1197C>A (p.Asp399Glu) c.1293C>A (p.Asp431Glu) c.1344C>A (p.Asp448Glu) c.1248C>A (p.Asp416Glu) c.624C>A (p.Asp208Glu) c.1437C>A (p.Asp479Glu) c.1341C>A (p.Asp447Glu) c.8370+124011G>T (n.8370+124011G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897058T>A | CA348048013 | EDAR,RANBP2 | c.1196A>T (p.Asp399Val) c.1292A>T (p.Asp431Val) c.1343A>T (p.Asp448Val) c.1247A>T (p.Asp416Val) c.623A>T (p.Asp208Val) c.1436A>T (p.Asp479Val) c.1340A>T (p.Asp447Val) c.8370+124012T>A (n.8370+124012T>A) | |
2 | g.108897058T>C | CA348048012 | EDAR,RANBP2 | c.1196A>G (p.Asp399Gly) c.1292A>G (p.Asp431Gly) c.1343A>G (p.Asp448Gly) c.1247A>G (p.Asp416Gly) c.623A>G (p.Asp208Gly) c.1436A>G (p.Asp479Gly) c.1340A>G (p.Asp447Gly) c.8370+124012T>C (n.8370+124012T>C) | gnomAD v4 |
2 | g.108897058T>G | CA348048011 | EDAR,RANBP2 | c.1196A>C (p.Asp399Ala) c.1292A>C (p.Asp431Ala) c.1343A>C (p.Asp448Ala) c.1247A>C (p.Asp416Ala) c.623A>C (p.Asp208Ala) c.1436A>C (p.Asp479Ala) c.1340A>C (p.Asp447Ala) c.8370+124012T>G (n.8370+124012T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897058T= | CA1278354254 | EDAR,RANBP2 | c.1196A= (p.Asp399=) c.1292A= (p.Asp431=) c.1343A= (p.Asp448=) c.1247A= (p.Asp416=) c.623A= (p.Asp208=) c.1436A= (p.Asp479=) c.1340A= (p.Asp447=) c.8370+124012T= (n.8370+124012T=) | |
2 | g.108897059C>A | CA348048014 | EDAR,RANBP2 | c.1195G>T (p.Asp399Tyr) c.1291G>T (p.Asp431Tyr) c.1342G>T (p.Asp448Tyr) c.1246G>T (p.Asp416Tyr) c.622G>T (p.Asp208Tyr) c.1435G>T (p.Asp479Tyr) c.1339G>T (p.Asp447Tyr) c.8370+124013C>A (n.8370+124013C>A) | |
2 | g.108897059C= | CA1278354255 | EDAR,RANBP2 | c.1195G= (p.Asp399=) c.1291G= (p.Asp431=) c.1342G= (p.Asp448=) c.1246G= (p.Asp416=) c.622G= (p.Asp208=) c.1435G= (p.Asp479=) c.1339G= (p.Asp447=) c.8370+124013C= (n.8370+124013C=) | |
2 | g.108897059C>G | CA348048015 | EDAR,RANBP2 | c.1195G>C (p.Asp399His) c.1291G>C (p.Asp431His) c.1342G>C (p.Asp448His) c.1246G>C (p.Asp416His) c.622G>C (p.Asp208His) c.1435G>C (p.Asp479His) c.1339G>C (p.Asp447His) c.8370+124013C>G (n.8370+124013C>G) | dbSNP gnomAD v2 |
2 | g.108897059C>T | CA348048016 | EDAR,RANBP2 | c.1195G>A (p.Asp399Asn) c.1291G>A (p.Asp431Asn) c.1342G>A (p.Asp448Asn) c.1246G>A (p.Asp416Asn) c.622G>A (p.Asp208Asn) c.1435G>A (p.Asp479Asn) c.1339G>A (p.Asp447Asn) c.8370+124013C>T (n.8370+124013C>T) | |
2 | g.108897059_108897061delinsCAA | CA1278354256 | EDAR,RANBP2 | c.1193_1195delinsTTG (p.Phe398=) c.1289_1291delinsTTG (p.Phe430=) c.1340_1342delinsTTG (p.Phe447=) c.1244_1246delinsTTG (p.Phe415=) c.620_622delinsTTG (p.Phe207=) c.1433_1435delinsTTG (p.Phe478=) c.1337_1339delinsTTG (p.Phe446=) c.8370+124013_8370+124015delinsCAA (n.8370+124013_8370+124015delinsCAA) | |
2 | g.108897060A= | CA1278354257 | EDAR,RANBP2 | c.1194T= (p.Phe398=) c.1290T= (p.Phe430=) c.1341T= (p.Phe447=) c.1245T= (p.Phe415=) c.621T= (p.Phe207=) c.1434T= (p.Phe478=) c.1338T= (p.Phe446=) c.8370+124014A= (n.8370+124014A=) | |
2 | g.108897060A>C | CA348048017 | EDAR,RANBP2 | c.1194T>G (p.Phe398Leu) c.1290T>G (p.Phe430Leu) c.1341T>G (p.Phe447Leu) c.1245T>G (p.Phe415Leu) c.621T>G (p.Phe207Leu) c.1434T>G (p.Phe478Leu) c.1338T>G (p.Phe446Leu) c.8370+124014A>C (n.8370+124014A>C) | |
2 | g.108897060A>G | CA1824802 | EDAR,RANBP2 | c.1194T>C (p.Phe398=) c.1290T>C (p.Phe430=) c.1341T>C (p.Phe447=) c.1245T>C (p.Phe415=) c.621T>C (p.Phe207=) c.1434T>C (p.Phe478=) c.1338T>C (p.Phe446=) c.8370+124014A>G (n.8370+124014A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897060A>T | CA348048018 | EDAR,RANBP2 | c.1194T>A (p.Phe398Leu) c.1290T>A (p.Phe430Leu) c.1341T>A (p.Phe447Leu) c.1245T>A (p.Phe415Leu) c.621T>A (p.Phe207Leu) c.1434T>A (p.Phe478Leu) c.1338T>A (p.Phe446Leu) c.8370+124014A>T (n.8370+124014A>T) | gnomAD v4 |
2 | g.108897061_108897062del | CA658795840 | EDAR,RANBP2 | c.1193_1194del (p.Phe398Ter) c.1289_1290del (p.Phe430Ter) c.1340_1341del (p.Phe447Ter) c.1244_1245del (p.Phe415Ter) c.620_621del (p.Phe207Ter) c.1433_1434del (p.Phe478Ter) c.1337_1338del (p.Phe446Ter) c.8370+124015_8370+124016del (n.8370+124015_8370+124016del) | ClinVar dbSNP gnomAD v4 |
2 | g.108897061A>C | CA348048019 | EDAR,RANBP2 | c.1193T>G (p.Phe398Cys) c.1289T>G (p.Phe430Cys) c.1340T>G (p.Phe447Cys) c.1244T>G (p.Phe415Cys) c.620T>G (p.Phe207Cys) c.1433T>G (p.Phe478Cys) c.1337T>G (p.Phe446Cys) c.8370+124015A>C (n.8370+124015A>C) | |
2 | g.108897061A>G | CA348048020 | EDAR,RANBP2 | c.1193T>C (p.Phe398Ser) c.1289T>C (p.Phe430Ser) c.1340T>C (p.Phe447Ser) c.1244T>C (p.Phe415Ser) c.620T>C (p.Phe207Ser) c.1433T>C (p.Phe478Ser) c.1337T>C (p.Phe446Ser) c.8370+124015A>G (n.8370+124015A>G) | |
2 | g.108897061A>T | CA348048021 | EDAR,RANBP2 | c.1193T>A (p.Phe398Tyr) c.1289T>A (p.Phe430Tyr) c.1340T>A (p.Phe447Tyr) c.1244T>A (p.Phe415Tyr) c.620T>A (p.Phe207Tyr) c.1433T>A (p.Phe478Tyr) c.1337T>A (p.Phe446Tyr) c.8370+124015A>T (n.8370+124015A>T) | |
2 | g.108897062A>C | CA348048022 | EDAR,RANBP2 | c.1192T>G (p.Phe398Val) c.1288T>G (p.Phe430Val) c.1339T>G (p.Phe447Val) c.1243T>G (p.Phe415Val) c.619T>G (p.Phe207Val) c.1432T>G (p.Phe478Val) c.1336T>G (p.Phe446Val) c.8370+124016A>C (n.8370+124016A>C) | |
2 | g.108897062A>G | CA348048023 | EDAR,RANBP2 | c.1192T>C (p.Phe398Leu) c.1288T>C (p.Phe430Leu) c.1339T>C (p.Phe447Leu) c.1243T>C (p.Phe415Leu) c.619T>C (p.Phe207Leu) c.1432T>C (p.Phe478Leu) c.1336T>C (p.Phe446Leu) c.8370+124016A>G (n.8370+124016A>G) | |
2 | g.108897062A>T | CA348048024 | EDAR,RANBP2 | c.1192T>A (p.Phe398Ile) c.1288T>A (p.Phe430Ile) c.1339T>A (p.Phe447Ile) c.1243T>A (p.Phe415Ile) c.619T>A (p.Phe207Ile) c.1432T>A (p.Phe478Ile) c.1336T>A (p.Phe446Ile) c.8370+124016A>T (n.8370+124016A>T) | |
2 | g.108897063G>A | CA428204073 | EDAR,RANBP2 | c.1191C>T (p.Leu397=) c.1287C>T (p.Leu429=) c.1338C>T (p.Leu446=) c.1242C>T (p.Leu414=) c.618C>T (p.Leu206=) c.1431C>T (p.Leu477=) c.1335C>T (p.Leu445=) c.8370+124017G>A (n.8370+124017G>A) | |
2 | g.108897063G>C | CA428204074 | EDAR,RANBP2 | c.1191C>G (p.Leu397=) c.1287C>G (p.Leu429=) c.1338C>G (p.Leu446=) c.1242C>G (p.Leu414=) c.618C>G (p.Leu206=) c.1431C>G (p.Leu477=) c.1335C>G (p.Leu445=) c.8370+124017G>C (n.8370+124017G>C) | |
2 | g.108897063G>T | CA428204075 | EDAR,RANBP2 | c.1191C>A (p.Leu397=) c.1287C>A (p.Leu429=) c.1338C>A (p.Leu446=) c.1242C>A (p.Leu414=) c.618C>A (p.Leu206=) c.1431C>A (p.Leu477=) c.1335C>A (p.Leu445=) c.8370+124017G>T (n.8370+124017G>T) | |
2 | g.108897064A>C | CA348048026 | EDAR,RANBP2 | c.1190T>G (p.Leu397Arg) c.1286T>G (p.Leu429Arg) c.1337T>G (p.Leu446Arg) c.1241T>G (p.Leu414Arg) c.617T>G (p.Leu206Arg) c.1430T>G (p.Leu477Arg) c.1334T>G (p.Leu445Arg) c.8370+124018A>C (n.8370+124018A>C) | |
2 | g.108897064A>G | CA348048027 | EDAR,RANBP2 | c.1190T>C (p.Leu397Pro) c.1286T>C (p.Leu429Pro) c.1337T>C (p.Leu446Pro) c.1241T>C (p.Leu414Pro) c.617T>C (p.Leu206Pro) c.1430T>C (p.Leu477Pro) c.1334T>C (p.Leu445Pro) c.8370+124018A>G (n.8370+124018A>G) | |
2 | g.108897064A>T | CA348048025 | EDAR,RANBP2 | c.1190T>A (p.Leu397His) c.1286T>A (p.Leu429His) c.1337T>A (p.Leu446His) c.1241T>A (p.Leu414His) c.617T>A (p.Leu206His) c.1430T>A (p.Leu477His) c.1334T>A (p.Leu445His) c.8370+124018A>T (n.8370+124018A>T) | |
2 | g.108897065G>A | CA348048028 | EDAR,RANBP2 | c.1189C>T (p.Leu397Phe) c.1285C>T (p.Leu429Phe) c.1336C>T (p.Leu446Phe) c.1240C>T (p.Leu414Phe) c.616C>T (p.Leu206Phe) c.1429C>T (p.Leu477Phe) c.1333C>T (p.Leu445Phe) c.8370+124019G>A (n.8370+124019G>A) | |
2 | g.108897065G>C | CA348048029 | EDAR,RANBP2 | c.1189C>G (p.Leu397Val) c.1285C>G (p.Leu429Val) c.1336C>G (p.Leu446Val) c.1240C>G (p.Leu414Val) c.616C>G (p.Leu206Val) c.1429C>G (p.Leu477Val) c.1333C>G (p.Leu445Val) c.8370+124019G>C (n.8370+124019G>C) | |
2 | g.108897065G>T | CA348048030 | EDAR,RANBP2 | c.1189C>A (p.Leu397Ile) c.1285C>A (p.Leu429Ile) c.1336C>A (p.Leu446Ile) c.1240C>A (p.Leu414Ile) c.616C>A (p.Leu206Ile) c.1429C>A (p.Leu477Ile) c.1333C>A (p.Leu445Ile) c.8370+124019G>T (n.8370+124019G>T) | |
2 | g.108897066_108897068dup | CA2586969740 | EDAR,RANBP2 | c.1187_1189dup (p.Gln396_Leu397insGln) c.1283_1285dup (p.Gln428_Leu429insGln) c.1334_1336dup (p.Gln445_Leu446insGln) c.1238_1240dup (p.Gln413_Leu414insGln) c.614_616dup (p.Gln205_Leu206insGln) c.1427_1429dup (p.Gln476_Leu477insGln) c.1331_1333dup (p.Gln444_Leu445insGln) c.8370+124020_8370+124022dup (n.8370+124020_8370+124022dup) | |
2 | g.108897066T>A | CA348048031 | EDAR,RANBP2 | c.1188A>T (p.Gln396His) c.1284A>T (p.Gln428His) c.1335A>T (p.Gln445His) c.1239A>T (p.Gln413His) c.615A>T (p.Gln205His) c.1428A>T (p.Gln476His) c.1332A>T (p.Gln444His) c.8370+124020T>A (n.8370+124020T>A) | |
2 | g.108897066T>C | CA428204080 | EDAR,RANBP2 | c.1188A>G (p.Gln396=) c.1284A>G (p.Gln428=) c.1335A>G (p.Gln445=) c.1239A>G (p.Gln413=) c.615A>G (p.Gln205=) c.1428A>G (p.Gln476=) c.1332A>G (p.Gln444=) c.8370+124020T>C (n.8370+124020T>C) | gnomAD v4 |
2 | g.108897066T>G | CA348048032 | EDAR,RANBP2 | c.1188A>C (p.Gln396His) c.1284A>C (p.Gln428His) c.1335A>C (p.Gln445His) c.1239A>C (p.Gln413His) c.615A>C (p.Gln205His) c.1428A>C (p.Gln476His) c.1332A>C (p.Gln444His) c.8370+124020T>G (n.8370+124020T>G) | |
2 | g.108897067T>A | CA348048035 | EDAR,RANBP2 | c.1187A>T (p.Gln396Leu) c.1283A>T (p.Gln428Leu) c.1334A>T (p.Gln445Leu) c.1238A>T (p.Gln413Leu) c.614A>T (p.Gln205Leu) c.1427A>T (p.Gln476Leu) c.1331A>T (p.Gln444Leu) c.8370+124021T>A (n.8370+124021T>A) | |
2 | g.108897067T>C | CA348048033 | EDAR,RANBP2 | c.1187A>G (p.Gln396Arg) c.1283A>G (p.Gln428Arg) c.1334A>G (p.Gln445Arg) c.1238A>G (p.Gln413Arg) c.614A>G (p.Gln205Arg) c.1427A>G (p.Gln476Arg) c.1331A>G (p.Gln444Arg) c.8370+124021T>C (n.8370+124021T>C) | |
2 | g.108897067T>G | CA348048034 | EDAR,RANBP2 | c.1187A>C (p.Gln396Pro) c.1283A>C (p.Gln428Pro) c.1334A>C (p.Gln445Pro) c.1238A>C (p.Gln413Pro) c.614A>C (p.Gln205Pro) c.1427A>C (p.Gln476Pro) c.1331A>C (p.Gln444Pro) c.8370+124021T>G (n.8370+124021T>G) | |
2 | g.108897068G>A | CA348048036 | EDAR,RANBP2 | c.1186C>T (p.Gln396Ter) c.1282C>T (p.Gln428Ter) c.1333C>T (p.Gln445Ter) c.1237C>T (p.Gln413Ter) c.613C>T (p.Gln205Ter) c.1426C>T (p.Gln476Ter) c.1330C>T (p.Gln444Ter) c.8370+124022G>A (n.8370+124022G>A) | |
2 | g.108897068G>C | CA348048037 | EDAR,RANBP2 | c.1186C>G (p.Gln396Glu) c.1282C>G (p.Gln428Glu) c.1333C>G (p.Gln445Glu) c.1237C>G (p.Gln413Glu) c.613C>G (p.Gln205Glu) c.1426C>G (p.Gln476Glu) c.1330C>G (p.Gln444Glu) c.8370+124022G>C (n.8370+124022G>C) | gnomAD v4 |
2 | g.108897068G>T | CA348048038 | EDAR,RANBP2 | c.1186C>A (p.Gln396Lys) c.1282C>A (p.Gln428Lys) c.1333C>A (p.Gln445Lys) c.1237C>A (p.Gln413Lys) c.613C>A (p.Gln205Lys) c.1426C>A (p.Gln476Lys) c.1330C>A (p.Gln444Lys) c.8370+124022G>T (n.8370+124022G>T) | dbSNP |
2 | g.108897069C>A | CA348048039 | EDAR,RANBP2 | c.1185G>T (p.Met395Ile) c.1281G>T (p.Met427Ile) c.1332G>T (p.Met444Ile) c.1236G>T (p.Met412Ile) c.612G>T (p.Met204Ile) c.1425G>T (p.Met475Ile) c.1329G>T (p.Met443Ile) c.8370+124023C>A (n.8370+124023C>A) | |
2 | g.108897069C>G | CA348048040 | EDAR,RANBP2 | c.1185G>C (p.Met395Ile) c.1281G>C (p.Met427Ile) c.1332G>C (p.Met444Ile) c.1236G>C (p.Met412Ile) c.612G>C (p.Met204Ile) c.1425G>C (p.Met475Ile) c.1329G>C (p.Met443Ile) c.8370+124023C>G (n.8370+124023C>G) | |
2 | g.108897069C>T | CA348048041 | EDAR,RANBP2 | c.1185G>A (p.Met395Ile) c.1281G>A (p.Met427Ile) c.1332G>A (p.Met444Ile) c.1236G>A (p.Met412Ile) c.612G>A (p.Met204Ile) c.1425G>A (p.Met475Ile) c.1329G>A (p.Met443Ile) c.8370+124023C>T (n.8370+124023C>T) | |
2 | g.108897075_108897086del | CA2740095682 | EDAR,RANBP2 | c.1174_1185del (p.Thr392_Met395del) c.1270_1281del (p.Thr424_Met427del) c.1321_1332del (p.Thr441_Met444del) c.1225_1236del (p.Thr409_Met412del) c.601_612del (p.Thr201_Met204del) c.1414_1425del (p.Thr472_Met475del) c.1318_1329del (p.Thr440_Met443del) c.8370+124029_8370+124040del (n.8370+124029_8370+124040del) | ClinVar |
2 | g.108897070A>C | CA348048043 | EDAR,RANBP2 | c.1184T>G (p.Met395Arg) c.1280T>G (p.Met427Arg) c.1331T>G (p.Met444Arg) c.1235T>G (p.Met412Arg) c.611T>G (p.Met204Arg) c.1424T>G (p.Met475Arg) c.1328T>G (p.Met443Arg) c.8370+124024A>C (n.8370+124024A>C) | |
2 | g.108897070A>G | CA348048044 | EDAR,RANBP2 | c.1184T>C (p.Met395Thr) c.1280T>C (p.Met427Thr) c.1331T>C (p.Met444Thr) c.1235T>C (p.Met412Thr) c.611T>C (p.Met204Thr) c.1424T>C (p.Met475Thr) c.1328T>C (p.Met443Thr) c.8370+124024A>G (n.8370+124024A>G) | gnomAD v4 |
2 | g.108897070A>T | CA348048042 | EDAR,RANBP2 | c.1184T>A (p.Met395Lys) c.1280T>A (p.Met427Lys) c.1331T>A (p.Met444Lys) c.1235T>A (p.Met412Lys) c.611T>A (p.Met204Lys) c.1424T>A (p.Met475Lys) c.1328T>A (p.Met443Lys) c.8370+124024A>T (n.8370+124024A>T) | |
2 | g.108897071T>A | CA348048045 | EDAR,RANBP2 | c.1183A>T (p.Met395Leu) c.1279A>T (p.Met427Leu) c.1330A>T (p.Met444Leu) c.1234A>T (p.Met412Leu) c.610A>T (p.Met204Leu) c.1423A>T (p.Met475Leu) c.1327A>T (p.Met443Leu) c.8370+124025T>A (n.8370+124025T>A) | |
2 | g.108897071T>C | CA10610572 | EDAR,RANBP2 | c.1183A>G (p.Met395Val) c.1279A>G (p.Met427Val) c.1330A>G (p.Met444Val) c.1234A>G (p.Met412Val) c.610A>G (p.Met204Val) c.1423A>G (p.Met475Val) c.1327A>G (p.Met443Val) c.8370+124025T>C (n.8370+124025T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.108897071T>G | CA348048046 | EDAR,RANBP2 | c.1183A>C (p.Met395Leu) c.1279A>C (p.Met427Leu) c.1330A>C (p.Met444Leu) c.1234A>C (p.Met412Leu) c.610A>C (p.Met204Leu) c.1423A>C (p.Met475Leu) c.1327A>C (p.Met443Leu) c.8370+124025T>G (n.8370+124025T>G) | |
2 | g.108897071T= | CA1278354258 | EDAR,RANBP2 | c.1183A= (p.Met395=) c.1279A= (p.Met427=) c.1330A= (p.Met444=) c.1234A= (p.Met412=) c.610A= (p.Met204=) c.1423A= (p.Met475=) c.1327A= (p.Met443=) c.8370+124025T= (n.8370+124025T=) | |
2 | g.108897072G>A | CA428204089 | EDAR,RANBP2 | c.1182C>T (p.Gly394=) c.1278C>T (p.Gly426=) c.1329C>T (p.Gly443=) c.1233C>T (p.Gly411=) c.609C>T (p.Gly203=) c.1422C>T (p.Gly474=) c.1326C>T (p.Gly442=) c.8370+124026G>A (n.8370+124026G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897072G>C | CA428204090 | EDAR,RANBP2 | c.1182C>G (p.Gly394=) c.1278C>G (p.Gly426=) c.1329C>G (p.Gly443=) c.1233C>G (p.Gly411=) c.609C>G (p.Gly203=) c.1422C>G (p.Gly474=) c.1326C>G (p.Gly442=) c.8370+124026G>C (n.8370+124026G>C) | |
2 | g.108897072G= | CA1278354259 | EDAR,RANBP2 | c.1182C= (p.Gly394=) c.1278C= (p.Gly426=) c.1329C= (p.Gly443=) c.1233C= (p.Gly411=) c.609C= (p.Gly203=) c.1422C= (p.Gly474=) c.1326C= (p.Gly442=) c.8370+124026G= (n.8370+124026G=) | |
2 | g.108897072G>T | CA428204095 | EDAR,RANBP2 | c.1182C>A (p.Gly394=) c.1278C>A (p.Gly426=) c.1329C>A (p.Gly443=) c.1233C>A (p.Gly411=) c.609C>A (p.Gly203=) c.1422C>A (p.Gly474=) c.1326C>A (p.Gly442=) c.8370+124026G>T (n.8370+124026G>T) | |
2 | g.108897073C>A | CA348048047 | EDAR,RANBP2 | c.1181G>T (p.Gly394Val) c.1277G>T (p.Gly426Val) c.1328G>T (p.Gly443Val) c.1232G>T (p.Gly411Val) c.608G>T (p.Gly203Val) c.1421G>T (p.Gly474Val) c.1325G>T (p.Gly442Val) c.8370+124027C>A (n.8370+124027C>A) | |
2 | g.108897073C>G | CA348048049 | EDAR,RANBP2 | c.1181G>C (p.Gly394Ala) c.1277G>C (p.Gly426Ala) c.1328G>C (p.Gly443Ala) c.1232G>C (p.Gly411Ala) c.608G>C (p.Gly203Ala) c.1421G>C (p.Gly474Ala) c.1325G>C (p.Gly442Ala) c.8370+124027C>G (n.8370+124027C>G) | |
2 | g.108897073C>T | CA348048048 | EDAR,RANBP2 | c.1181G>A (p.Gly394Asp) c.1277G>A (p.Gly426Asp) c.1328G>A (p.Gly443Asp) c.1232G>A (p.Gly411Asp) c.608G>A (p.Gly203Asp) c.1421G>A (p.Gly474Asp) c.1325G>A (p.Gly442Asp) c.8370+124027C>T (n.8370+124027C>T) | gnomAD v4 |
2 | g.108897074C>A | CA348048050 | EDAR,RANBP2 | c.1180G>T (p.Gly394Cys) c.1276G>T (p.Gly426Cys) c.1327G>T (p.Gly443Cys) c.1231G>T (p.Gly411Cys) c.607G>T (p.Gly203Cys) c.1420G>T (p.Gly474Cys) c.1324G>T (p.Gly442Cys) c.8370+124028C>A (n.8370+124028C>A) | |
2 | g.108897074C= | CA1278354260 | EDAR,RANBP2 | c.1180G= (p.Gly394=) c.1276G= (p.Gly426=) c.1327G= (p.Gly443=) c.1231G= (p.Gly411=) c.607G= (p.Gly203=) c.1420G= (p.Gly474=) c.1324G= (p.Gly442=) c.8370+124028C= (n.8370+124028C=) | |
2 | g.108897074C>G | CA348048051 | EDAR,RANBP2 | c.1180G>C (p.Gly394Arg) c.1276G>C (p.Gly426Arg) c.1327G>C (p.Gly443Arg) c.1231G>C (p.Gly411Arg) c.607G>C (p.Gly203Arg) c.1420G>C (p.Gly474Arg) c.1324G>C (p.Gly442Arg) c.8370+124028C>G (n.8370+124028C>G) | |
2 | g.108897074C>T | CA1824803 | EDAR,RANBP2 | c.1180G>A (p.Gly394Ser) c.1276G>A (p.Gly426Ser) c.1327G>A (p.Gly443Ser) c.1231G>A (p.Gly411Ser) c.607G>A (p.Gly203Ser) c.1420G>A (p.Gly474Ser) c.1324G>A (p.Gly442Ser) c.8370+124028C>T (n.8370+124028C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>A | CA1824804 | EDAR,RANBP2 | c.1179C>T (p.Asp393=) c.1275C>T (p.Asp425=) c.1326C>T (p.Asp442=) c.1230C>T (p.Asp410=) c.606C>T (p.Asp202=) c.1419C>T (p.Asp473=) c.1323C>T (p.Asp441=) c.8370+124029G>A (n.8370+124029G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>C | CA348048052 | EDAR,RANBP2 | c.1179C>G (p.Asp393Glu) c.1275C>G (p.Asp425Glu) c.1326C>G (p.Asp442Glu) c.1230C>G (p.Asp410Glu) c.606C>G (p.Asp202Glu) c.1419C>G (p.Asp473Glu) c.1323C>G (p.Asp441Glu) c.8370+124029G>C (n.8370+124029G>C) | |
2 | g.108897075G= | CA1278354261 | EDAR,RANBP2 | c.1179C= (p.Asp393=) c.1275C= (p.Asp425=) c.1326C= (p.Asp442=) c.1230C= (p.Asp410=) c.606C= (p.Asp202=) c.1419C= (p.Asp473=) c.1323C= (p.Asp441=) c.8370+124029G= (n.8370+124029G=) | |
2 | g.108897075G>T | CA348048053 | EDAR,RANBP2 | c.1179C>A (p.Asp393Glu) c.1275C>A (p.Asp425Glu) c.1326C>A (p.Asp442Glu) c.1230C>A (p.Asp410Glu) c.606C>A (p.Asp202Glu) c.1419C>A (p.Asp473Glu) c.1323C>A (p.Asp441Glu) c.8370+124029G>T (n.8370+124029G>T) | gnomAD v4 |
2 | g.108897076T>A | CA348048054 | EDAR,RANBP2 | c.1178A>T (p.Asp393Val) c.1274A>T (p.Asp425Val) c.1325A>T (p.Asp442Val) c.1229A>T (p.Asp410Val) c.605A>T (p.Asp202Val) c.1418A>T (p.Asp473Val) c.1322A>T (p.Asp441Val) c.8370+124030T>A (n.8370+124030T>A) | |
2 | g.108897076T>C | CA348048055 | EDAR,RANBP2 | c.1178A>G (p.Asp393Gly) c.1274A>G (p.Asp425Gly) c.1325A>G (p.Asp442Gly) c.1229A>G (p.Asp410Gly) c.605A>G (p.Asp202Gly) c.1418A>G (p.Asp473Gly) c.1322A>G (p.Asp441Gly) c.8370+124030T>C (n.8370+124030T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897076T>G | CA348048056 | EDAR,RANBP2 | c.1178A>C (p.Asp393Ala) c.1274A>C (p.Asp425Ala) c.1325A>C (p.Asp442Ala) c.1229A>C (p.Asp410Ala) c.605A>C (p.Asp202Ala) c.1418A>C (p.Asp473Ala) c.1322A>C (p.Asp441Ala) c.8370+124030T>G (n.8370+124030T>G) | |
2 | g.108897076T= | CA1278354262 | EDAR,RANBP2 | c.1178A= (p.Asp393=) c.1274A= (p.Asp425=) c.1325A= (p.Asp442=) c.1229A= (p.Asp410=) c.605A= (p.Asp202=) c.1418A= (p.Asp473=) c.1322A= (p.Asp441=) c.8370+124030T= (n.8370+124030T=) | |
2 | g.108897077_108897078dup | CA2577065494 | EDAR,RANBP2 | c.1177_1178dup (p.Asp393GlufsTer?) c.1273_1274dup (p.Asp425GlufsTer?) c.1324_1325dup (p.Asp442GlufsTer?) c.1228_1229dup (p.Asp410GlufsTer?) c.604_605dup (p.Asp202GlufsTer?) c.1417_1418dup (p.Asp473GlufsTer?) c.1321_1322dup (p.Asp441GlufsTer?) c.8370+124031_8370+124032dup (n.8370+124031_8370+124032dup) | |
2 | g.108897077C>A | CA348048057 | EDAR,RANBP2 | c.1177G>T (p.Asp393Tyr) c.1273G>T (p.Asp425Tyr) c.1324G>T (p.Asp442Tyr) c.1228G>T (p.Asp410Tyr) c.604G>T (p.Asp202Tyr) c.1417G>T (p.Asp473Tyr) c.1321G>T (p.Asp441Tyr) c.8370+124031C>A (n.8370+124031C>A) | |
2 | g.108897077C>G | CA348048058 | EDAR,RANBP2 | c.1177G>C (p.Asp393His) c.1273G>C (p.Asp425His) c.1324G>C (p.Asp442His) c.1228G>C (p.Asp410His) c.604G>C (p.Asp202His) c.1417G>C (p.Asp473His) c.1321G>C (p.Asp441His) c.8370+124031C>G (n.8370+124031C>G) | |
2 | g.108897077C>T | CA348048059 | EDAR,RANBP2 | c.1177G>A (p.Asp393Asn) c.1273G>A (p.Asp425Asn) c.1324G>A (p.Asp442Asn) c.1228G>A (p.Asp410Asn) c.604G>A (p.Asp202Asn) c.1417G>A (p.Asp473Asn) c.1321G>A (p.Asp441Asn) c.8370+124031C>T (n.8370+124031C>T) | |
2 | g.108897078T>A | CA428204109 | EDAR,RANBP2 | c.1176A>T (p.Thr392=) c.1272A>T (p.Thr424=) c.1323A>T (p.Thr441=) c.1227A>T (p.Thr409=) c.603A>T (p.Thr201=) c.1416A>T (p.Thr472=) c.1320A>T (p.Thr440=) c.8370+124032T>A (n.8370+124032T>A) | |
2 | g.108897078T>C | CA428204110 | EDAR,RANBP2 | c.1176A>G (p.Thr392=) c.1272A>G (p.Thr424=) c.1323A>G (p.Thr441=) c.1227A>G (p.Thr409=) c.603A>G (p.Thr201=) c.1416A>G (p.Thr472=) c.1320A>G (p.Thr440=) c.8370+124032T>C (n.8370+124032T>C) | |
2 | g.108897078T>G | CA428204111 | EDAR,RANBP2 | c.1176A>C (p.Thr392=) c.1272A>C (p.Thr424=) c.1323A>C (p.Thr441=) c.1227A>C (p.Thr409=) c.603A>C (p.Thr201=) c.1416A>C (p.Thr472=) c.1320A>C (p.Thr440=) c.8370+124032T>G (n.8370+124032T>G) | |
2 | g.108897079G>A | CA53464748 | EDAR,RANBP2 | c.1175C>T (p.Thr392Ile) c.1271C>T (p.Thr424Ile) c.1322C>T (p.Thr441Ile) c.1226C>T (p.Thr409Ile) c.602C>T (p.Thr201Ile) c.1415C>T (p.Thr472Ile) c.1319C>T (p.Thr440Ile) c.8370+124033G>A (n.8370+124033G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897079G>C | CA348048061 | EDAR,RANBP2 | c.1175C>G (p.Thr392Arg) c.1271C>G (p.Thr424Arg) c.1322C>G (p.Thr441Arg) c.1226C>G (p.Thr409Arg) c.602C>G (p.Thr201Arg) c.1415C>G (p.Thr472Arg) c.1319C>G (p.Thr440Arg) c.8370+124033G>C (n.8370+124033G>C) | gnomAD v4 |
2 | g.108897079G= | CA1278354263 | EDAR,RANBP2 | c.1175C= (p.Thr392=) c.1271C= (p.Thr424=) c.1322C= (p.Thr441=) c.1226C= (p.Thr409=) c.602C= (p.Thr201=) c.1415C= (p.Thr472=) c.1319C= (p.Thr440=) c.8370+124033G= (n.8370+124033G=) | |
2 | g.108897079G>T | CA348048060 | EDAR,RANBP2 | c.1175C>A (p.Thr392Lys) c.1271C>A (p.Thr424Lys) c.1322C>A (p.Thr441Lys) c.1226C>A (p.Thr409Lys) c.602C>A (p.Thr201Lys) c.1415C>A (p.Thr472Lys) c.1319C>A (p.Thr440Lys) c.8370+124033G>T (n.8370+124033G>T) | |
2 | g.108897080T>A | CA348048062 | EDAR,RANBP2 | c.1174A>T (p.Thr392Ser) c.1270A>T (p.Thr424Ser) c.1321A>T (p.Thr441Ser) c.1225A>T (p.Thr409Ser) c.601A>T (p.Thr201Ser) c.1414A>T (p.Thr472Ser) c.1318A>T (p.Thr440Ser) c.8370+124034T>A (n.8370+124034T>A) | |
2 | g.108897080T>C | CA348048063 | EDAR,RANBP2 | c.1174A>G (p.Thr392Ala) c.1270A>G (p.Thr424Ala) c.1321A>G (p.Thr441Ala) c.1225A>G (p.Thr409Ala) c.601A>G (p.Thr201Ala) c.1414A>G (p.Thr472Ala) c.1318A>G (p.Thr440Ala) c.8370+124034T>C (n.8370+124034T>C) | |
2 | g.108897080T>G | CA348048064 | EDAR,RANBP2 | c.1174A>C (p.Thr392Pro) c.1270A>C (p.Thr424Pro) c.1321A>C (p.Thr441Pro) c.1225A>C (p.Thr409Pro) c.601A>C (p.Thr201Pro) c.1414A>C (p.Thr472Pro) c.1318A>C (p.Thr440Pro) c.8370+124034T>G (n.8370+124034T>G) | |
2 | g.108897081C>A | CA348048065 | EDAR,RANBP2 | c.1173G>T (p.Met391Ile) c.1269G>T (p.Met423Ile) c.1320G>T (p.Met440Ile) c.1224G>T (p.Met408Ile) c.600G>T (p.Met200Ile) c.1413G>T (p.Met471Ile) c.1317G>T (p.Met439Ile) c.8370+124035C>A (n.8370+124035C>A) | |
2 | g.108897081C>G | CA348048066 | EDAR,RANBP2 | c.1173G>C (p.Met391Ile) c.1269G>C (p.Met423Ile) c.1320G>C (p.Met440Ile) c.1224G>C (p.Met408Ile) c.600G>C (p.Met200Ile) c.1413G>C (p.Met471Ile) c.1317G>C (p.Met439Ile) c.8370+124035C>G (n.8370+124035C>G) | |
2 | g.108897081C>T | CA348048067 | EDAR,RANBP2 | c.1173G>A (p.Met391Ile) c.1269G>A (p.Met423Ile) c.1320G>A (p.Met440Ile) c.1224G>A (p.Met408Ile) c.600G>A (p.Met200Ile) c.1413G>A (p.Met471Ile) c.1317G>A (p.Met439Ile) c.8370+124035C>T (n.8370+124035C>T) | gnomAD v4 |
2 | g.108897082A>C | CA348048068 | EDAR,RANBP2 | c.1172T>G (p.Met391Arg) c.1268T>G (p.Met423Arg) c.1319T>G (p.Met440Arg) c.1223T>G (p.Met408Arg) c.599T>G (p.Met200Arg) c.1412T>G (p.Met471Arg) c.1316T>G (p.Met439Arg) c.8370+124036A>C (n.8370+124036A>C) | |
2 | g.108897082A>G | CA348048069 | EDAR,RANBP2 | c.1172T>C (p.Met391Thr) c.1268T>C (p.Met423Thr) c.1319T>C (p.Met440Thr) c.1223T>C (p.Met408Thr) c.599T>C (p.Met200Thr) c.1412T>C (p.Met471Thr) c.1316T>C (p.Met439Thr) c.8370+124036A>G (n.8370+124036A>G) | gnomAD v4 COSMIC COSMIC |
2 | g.108897082A>T | CA348048070 | EDAR,RANBP2 | c.1172T>A (p.Met391Lys) c.1268T>A (p.Met423Lys) c.1319T>A (p.Met440Lys) c.1223T>A (p.Met408Lys) c.599T>A (p.Met200Lys) c.1412T>A (p.Met471Lys) c.1316T>A (p.Met439Lys) c.8370+124036A>T (n.8370+124036A>T) | gnomAD v4 |
2 | g.108897083T>A | CA348048073 | EDAR,RANBP2 | c.1171A>T (p.Met391Leu) c.1267A>T (p.Met423Leu) c.1318A>T (p.Met440Leu) c.1222A>T (p.Met408Leu) c.598A>T (p.Met200Leu) c.1411A>T (p.Met471Leu) c.1315A>T (p.Met439Leu) c.8370+124037T>A (n.8370+124037T>A) | |
2 | g.108897083T>C | CA348048072 | EDAR,RANBP2 | c.1171A>G (p.Met391Val) c.1267A>G (p.Met423Val) c.1318A>G (p.Met440Val) c.1222A>G (p.Met408Val) c.598A>G (p.Met200Val) c.1411A>G (p.Met471Val) c.1315A>G (p.Met439Val) c.8370+124037T>C (n.8370+124037T>C) | |
2 | g.108897083T>G | CA348048071 | EDAR,RANBP2 | c.1171A>C (p.Met391Leu) c.1267A>C (p.Met423Leu) c.1318A>C (p.Met440Leu) c.1222A>C (p.Met408Leu) c.598A>C (p.Met200Leu) c.1411A>C (p.Met471Leu) c.1315A>C (p.Met439Leu) c.8370+124037T>G (n.8370+124037T>G) | |
2 | g.108897084G>A | CA428204117 | EDAR,RANBP2 | c.1170C>T (p.Gly390=) c.1266C>T (p.Gly422=) c.1317C>T (p.Gly439=) c.1221C>T (p.Gly407=) c.597C>T (p.Gly199=) c.1410C>T (p.Gly470=) c.1314C>T (p.Gly438=) c.8370+124038G>A (n.8370+124038G>A) | gnomAD v4 |
2 | g.108897084G>C | CA428204118 | EDAR,RANBP2 | c.1170C>G (p.Gly390=) c.1266C>G (p.Gly422=) c.1317C>G (p.Gly439=) c.1221C>G (p.Gly407=) c.597C>G (p.Gly199=) c.1410C>G (p.Gly470=) c.1314C>G (p.Gly438=) c.8370+124038G>C (n.8370+124038G>C) | |
2 | g.108897084G>T | CA428204119 | EDAR,RANBP2 | c.1170C>A (p.Gly390=) c.1266C>A (p.Gly422=) c.1317C>A (p.Gly439=) c.1221C>A (p.Gly407=) c.597C>A (p.Gly199=) c.1410C>A (p.Gly470=) c.1314C>A (p.Gly438=) c.8370+124038G>T (n.8370+124038G>T) | dbSNP gnomAD v4 |
2 | g.108897084_108897085delinsGC | CA1278354264 | EDAR,RANBP2 | c.1169_1170delinsGC (p.Gly390=) c.1265_1266delinsGC (p.Gly422=) c.1316_1317delinsGC (p.Gly439=) c.1220_1221delinsGC (p.Gly407=) c.596_597delinsGC (p.Gly199=) c.1409_1410delinsGC (p.Gly470=) c.1313_1314delinsGC (p.Gly438=) c.8370+124038_8370+124039delinsGC (n.8370+124038_8370+124039delinsGC) | |
2 | g.108897085C>A | CA348048074 | EDAR,RANBP2 | c.1169G>T (p.Gly390Val) c.1265G>T (p.Gly422Val) c.1316G>T (p.Gly439Val) c.1220G>T (p.Gly407Val) c.596G>T (p.Gly199Val) c.1409G>T (p.Gly470Val) c.1313G>T (p.Gly438Val) c.8370+124039C>A (n.8370+124039C>A) | |
2 | g.108897085C= | CA1278354265 | EDAR,RANBP2 | c.1169G= (p.Gly390=) c.1265G= (p.Gly422=) c.1316G= (p.Gly439=) c.1220G= (p.Gly407=) c.596G= (p.Gly199=) c.1409G= (p.Gly470=) c.1313G= (p.Gly438=) c.8370+124039C= (n.8370+124039C=) | |
2 | g.108897085C>G | CA348048075 | EDAR,RANBP2 | c.1169G>C (p.Gly390Ala) c.1265G>C (p.Gly422Ala) c.1316G>C (p.Gly439Ala) c.1220G>C (p.Gly407Ala) c.596G>C (p.Gly199Ala) c.1409G>C (p.Gly470Ala) c.1313G>C (p.Gly438Ala) c.8370+124039C>G (n.8370+124039C>G) | |
2 | g.108897085C>T | CA348048076 | EDAR,RANBP2 | c.1169G>A (p.Gly390Asp) c.1265G>A (p.Gly422Asp) c.1316G>A (p.Gly439Asp) c.1220G>A (p.Gly407Asp) c.596G>A (p.Gly199Asp) c.1409G>A (p.Gly470Asp) c.1313G>A (p.Gly438Asp) c.8370+124039C>T (n.8370+124039C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897089dup | CA891842934 | EDAR,RANBP2 | c.1169dup (p.Met391HisfsTer9) c.1265dup (p.Met423HisfsTer9) c.1316dup (p.Met440HisfsTer9) c.1220dup (p.Met408HisfsTer9) c.596dup (p.Met200HisfsTer9) c.1409dup (p.Met471HisfsTer9) c.1313dup (p.Met439HisfsTer9) c.8370+124043dup (n.8370+124043dup) | ClinVar dbSNP |
2 | g.108897089del | CA916082193 | EDAR,RANBP2 | c.1169del (p.Gly390AlafsTer2) c.1265del (p.Gly422AlafsTer2) c.1316del (p.Gly439AlafsTer2) c.1220del (p.Gly407AlafsTer2) c.596del (p.Gly199AlafsTer2) c.1409del (p.Gly470AlafsTer2) c.1313del (p.Gly438AlafsTer2) c.8370+124043del (n.8370+124043del) | ClinVar dbSNP |
2 | g.108897086C>A | CA348048077 | EDAR,RANBP2 | c.1168G>T (p.Gly390Cys) c.1264G>T (p.Gly422Cys) c.1315G>T (p.Gly439Cys) c.1219G>T (p.Gly407Cys) c.595G>T (p.Gly199Cys) c.1408G>T (p.Gly470Cys) c.1312G>T (p.Gly438Cys) c.8370+124040C>A (n.8370+124040C>A) | |
2 | g.108897086C= | CA1278354266 | EDAR,RANBP2 | c.1168G= (p.Gly390=) c.1264G= (p.Gly422=) c.1315G= (p.Gly439=) c.1219G= (p.Gly407=) c.595G= (p.Gly199=) c.1408G= (p.Gly470=) c.1312G= (p.Gly438=) c.8370+124040C= (n.8370+124040C=) | |
2 | g.108897086C>G | CA348048078 | EDAR,RANBP2 | c.1168G>C (p.Gly390Arg) c.1264G>C (p.Gly422Arg) c.1315G>C (p.Gly439Arg) c.1219G>C (p.Gly407Arg) c.595G>C (p.Gly199Arg) c.1408G>C (p.Gly470Arg) c.1312G>C (p.Gly438Arg) c.8370+124040C>G (n.8370+124040C>G) | |
2 | g.108897086C>T | CA348048079 | EDAR,RANBP2 | c.1168G>A (p.Gly390Ser) c.1264G>A (p.Gly422Ser) c.1315G>A (p.Gly439Ser) c.1219G>A (p.Gly407Ser) c.595G>A (p.Gly199Ser) c.1408G>A (p.Gly470Ser) c.1312G>A (p.Gly438Ser) c.8370+124040C>T (n.8370+124040C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897087C>A | CA428204120 | EDAR,RANBP2 | c.1167G>T (p.Gly389=) c.1263G>T (p.Gly421=) c.1314G>T (p.Gly438=) c.1218G>T (p.Gly406=) c.594G>T (p.Gly198=) c.1407G>T (p.Gly469=) c.1311G>T (p.Gly437=) c.8370+124041C>A (n.8370+124041C>A) | |
2 | g.108897087C= | CA1278354267 | EDAR,RANBP2 | c.1167G= (p.Gly389=) c.1263G= (p.Gly421=) c.1314G= (p.Gly438=) c.1218G= (p.Gly406=) c.594G= (p.Gly198=) c.1407G= (p.Gly469=) c.1311G= (p.Gly437=) c.8370+124041C= (n.8370+124041C=) | |
2 | g.108897087C>G | CA428204121 | EDAR,RANBP2 | c.1167G>C (p.Gly389=) c.1263G>C (p.Gly421=) c.1314G>C (p.Gly438=) c.1218G>C (p.Gly406=) c.594G>C (p.Gly198=) c.1407G>C (p.Gly469=) c.1311G>C (p.Gly437=) c.8370+124041C>G (n.8370+124041C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897087C>T | CA428204122 | EDAR,RANBP2 | c.1167G>A (p.Gly389=) c.1263G>A (p.Gly421=) c.1314G>A (p.Gly438=) c.1218G>A (p.Gly406=) c.594G>A (p.Gly198=) c.1407G>A (p.Gly469=) c.1311G>A (p.Gly437=) c.8370+124041C>T (n.8370+124041C>T) | |
2 | g.108897088C>A | CA348048080 | EDAR,RANBP2 | c.1166G>T (p.Gly389Val) c.1262G>T (p.Gly421Val) c.1313G>T (p.Gly438Val) c.1217G>T (p.Gly406Val) c.593G>T (p.Gly198Val) c.1406G>T (p.Gly469Val) c.1310G>T (p.Gly437Val) c.8370+124042C>A (n.8370+124042C>A) | |
2 | g.108897088C= | CA1278354268 | EDAR,RANBP2 | c.1166G= (p.Gly389=) c.1262G= (p.Gly421=) c.1313G= (p.Gly438=) c.1217G= (p.Gly406=) c.593G= (p.Gly198=) c.1406G= (p.Gly469=) c.1310G= (p.Gly437=) c.8370+124042C= (n.8370+124042C=) | |
2 | g.108897088C>G | CA1824805 | EDAR,RANBP2 | c.1166G>C (p.Gly389Ala) c.1262G>C (p.Gly421Ala) c.1313G>C (p.Gly438Ala) c.1217G>C (p.Gly406Ala) c.593G>C (p.Gly198Ala) c.1406G>C (p.Gly469Ala) c.1310G>C (p.Gly437Ala) c.8370+124042C>G (n.8370+124042C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897088C>T | CA348048081 | EDAR,RANBP2 | c.1166G>A (p.Gly389Glu) c.1262G>A (p.Gly421Glu) c.1313G>A (p.Gly438Glu) c.1217G>A (p.Gly406Glu) c.593G>A (p.Gly198Glu) c.1406G>A (p.Gly469Glu) c.1310G>A (p.Gly437Glu) c.8370+124042C>T (n.8370+124042C>T) | |
2 | g.108897089C>A | CA348048082 | EDAR,RANBP2 | c.1165G>T (p.Gly389Trp) c.1261G>T (p.Gly421Trp) c.1312G>T (p.Gly438Trp) c.1216G>T (p.Gly406Trp) c.592G>T (p.Gly198Trp) c.1405G>T (p.Gly469Trp) c.1309G>T (p.Gly437Trp) c.8370+124043C>A (n.8370+124043C>A) | |
2 | g.108897089C= | CA1278354269 | EDAR,RANBP2 | c.1165G= (p.Gly389=) c.1261G= (p.Gly421=) c.1312G= (p.Gly438=) c.1216G= (p.Gly406=) c.592G= (p.Gly198=) c.1405G= (p.Gly469=) c.1309G= (p.Gly437=) c.8370+124043C= (n.8370+124043C=) | |
2 | g.108897089C>G | CA348048083 | EDAR,RANBP2 | c.1165G>C (p.Gly389Arg) c.1261G>C (p.Gly421Arg) c.1312G>C (p.Gly438Arg) c.1216G>C (p.Gly406Arg) c.592G>C (p.Gly198Arg) c.1405G>C (p.Gly469Arg) c.1309G>C (p.Gly437Arg) c.8370+124043C>G (n.8370+124043C>G) | |
2 | g.108897089C>T | CA1824806 | EDAR,RANBP2 | c.1165G>A (p.Gly389Arg) c.1261G>A (p.Gly421Arg) c.1312G>A (p.Gly438Arg) c.1216G>A (p.Gly406Arg) c.592G>A (p.Gly198Arg) c.1405G>A (p.Gly469Arg) c.1309G>A (p.Gly437Arg) c.8370+124043C>T (n.8370+124043C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897090A>C | CA348048084 | EDAR,RANBP2 | c.1164T>G (p.Ile388Met) c.1260T>G (p.Ile420Met) c.1311T>G (p.Ile437Met) c.1215T>G (p.Ile405Met) c.591T>G (p.Ile197Met) c.1404T>G (p.Ile468Met) c.1308T>G (p.Ile436Met) c.8370+124044A>C (n.8370+124044A>C) | |
2 | g.108897090A>G | CA428204127 | EDAR,RANBP2 | c.1164T>C (p.Ile388=) c.1260T>C (p.Ile420=) c.1311T>C (p.Ile437=) c.1215T>C (p.Ile405=) c.591T>C (p.Ile197=) c.1404T>C (p.Ile468=) c.1308T>C (p.Ile436=) c.8370+124044A>G (n.8370+124044A>G) | |
2 | g.108897090A>T | CA428204128 | EDAR,RANBP2 | c.1164T>A (p.Ile388=) c.1260T>A (p.Ile420=) c.1311T>A (p.Ile437=) c.1215T>A (p.Ile405=) c.591T>A (p.Ile197=) c.1404T>A (p.Ile468=) c.1308T>A (p.Ile436=) c.8370+124044A>T (n.8370+124044A>T) | |
2 | g.108897091A= | CA1278354270 | EDAR,RANBP2 | c.1163T= (p.Ile388=) c.1259T= (p.Ile420=) c.1310T= (p.Ile437=) c.1214T= (p.Ile405=) c.590T= (p.Ile197=) c.1403T= (p.Ile468=) c.1307T= (p.Ile436=) c.8370+124045A= (n.8370+124045A=) | |
2 | g.108897091A>C | CA348048085 | EDAR,RANBP2 | c.1163T>G (p.Ile388Ser) c.1259T>G (p.Ile420Ser) c.1310T>G (p.Ile437Ser) c.1214T>G (p.Ile405Ser) c.590T>G (p.Ile197Ser) c.1403T>G (p.Ile468Ser) c.1307T>G (p.Ile436Ser) c.8370+124045A>C (n.8370+124045A>C) | |
2 | g.108897091A>G | CA53464780 | EDAR,RANBP2 | c.1163T>C (p.Ile388Thr) c.1259T>C (p.Ile420Thr) c.1310T>C (p.Ile437Thr) c.1214T>C (p.Ile405Thr) c.590T>C (p.Ile197Thr) c.1403T>C (p.Ile468Thr) c.1307T>C (p.Ile436Thr) c.8370+124045A>G (n.8370+124045A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897091A>T | CA348048086 | EDAR,RANBP2 | c.1163T>A (p.Ile388Asn) c.1259T>A (p.Ile420Asn) c.1310T>A (p.Ile437Asn) c.1214T>A (p.Ile405Asn) c.590T>A (p.Ile197Asn) c.1403T>A (p.Ile468Asn) c.1307T>A (p.Ile436Asn) c.8370+124045A>T (n.8370+124045A>T) | |
2 | g.108897092T>A | CA348048087 | EDAR,RANBP2 | c.1162A>T (p.Ile388Phe) c.1258A>T (p.Ile420Phe) c.1309A>T (p.Ile437Phe) c.1213A>T (p.Ile405Phe) c.589A>T (p.Ile197Phe) c.1402A>T (p.Ile468Phe) c.1306A>T (p.Ile436Phe) c.8370+124046T>A (n.8370+124046T>A) | |
2 | g.108897092T>C | CA348048088 | EDAR,RANBP2 | c.1162A>G (p.Ile388Val) c.1258A>G (p.Ile420Val) c.1309A>G (p.Ile437Val) c.1213A>G (p.Ile405Val) c.589A>G (p.Ile197Val) c.1402A>G (p.Ile468Val) c.1306A>G (p.Ile436Val) c.8370+124046T>C (n.8370+124046T>C) | dbSNP gnomAD v4 |
2 | g.108897092T>G | CA348048089 | EDAR,RANBP2 | c.1162A>C (p.Ile388Leu) c.1258A>C (p.Ile420Leu) c.1309A>C (p.Ile437Leu) c.1213A>C (p.Ile405Leu) c.589A>C (p.Ile197Leu) c.1402A>C (p.Ile468Leu) c.1306A>C (p.Ile436Leu) c.8370+124046T>G (n.8370+124046T>G) | gnomAD v4 |
2 | g.108897093C>A | CA348048090 | EDAR,RANBP2 | c.1161G>T (p.Glu387Asp) c.1257G>T (p.Glu419Asp) c.1308G>T (p.Glu436Asp) c.1212G>T (p.Glu404Asp) c.588G>T (p.Glu196Asp) c.1401G>T (p.Glu467Asp) c.1305G>T (p.Glu435Asp) c.8370+124047C>A (n.8370+124047C>A) | COSMIC COSMIC |
2 | g.108897093C>G | CA348048091 | EDAR,RANBP2 | c.1161G>C (p.Glu387Asp) c.1257G>C (p.Glu419Asp) c.1308G>C (p.Glu436Asp) c.1212G>C (p.Glu404Asp) c.588G>C (p.Glu196Asp) c.1401G>C (p.Glu467Asp) c.1305G>C (p.Glu435Asp) c.8370+124047C>G (n.8370+124047C>G) | |
2 | g.108897093C>T | CA428204129 | EDAR,RANBP2 | c.1161G>A (p.Glu387=) c.1257G>A (p.Glu419=) c.1308G>A (p.Glu436=) c.1212G>A (p.Glu404=) c.588G>A (p.Glu196=) c.1401G>A (p.Glu467=) c.1305G>A (p.Glu435=) c.8370+124047C>T (n.8370+124047C>T) | COSMIC COSMIC |
2 | g.108897094T>A | CA348048092 | EDAR,RANBP2 | c.1160A>T (p.Glu387Val) c.1256A>T (p.Glu419Val) c.1307A>T (p.Glu436Val) c.1211A>T (p.Glu404Val) c.587A>T (p.Glu196Val) c.1400A>T (p.Glu467Val) c.1304A>T (p.Glu435Val) c.8370+124048T>A (n.8370+124048T>A) | |
2 | g.108897094T>C | CA348048093 | EDAR,RANBP2 | c.1160A>G (p.Glu387Gly) c.1256A>G (p.Glu419Gly) c.1307A>G (p.Glu436Gly) c.1211A>G (p.Glu404Gly) c.587A>G (p.Glu196Gly) c.1400A>G (p.Glu467Gly) c.1304A>G (p.Glu435Gly) c.8370+124048T>C (n.8370+124048T>C) | |
2 | g.108897094T>G | CA348048094 | EDAR,RANBP2 | c.1160A>C (p.Glu387Ala) c.1256A>C (p.Glu419Ala) c.1307A>C (p.Glu436Ala) c.1211A>C (p.Glu404Ala) c.587A>C (p.Glu196Ala) c.1400A>C (p.Glu467Ala) c.1304A>C (p.Glu435Ala) c.8370+124048T>G (n.8370+124048T>G) | |
2 | g.108897095C>A | CA348048095 | EDAR,RANBP2 | c.1159G>T (p.Glu387Ter) c.1255G>T (p.Glu419Ter) c.1306G>T (p.Glu436Ter) c.1210G>T (p.Glu404Ter) c.586G>T (p.Glu196Ter) c.1399G>T (p.Glu467Ter) c.1303G>T (p.Glu435Ter) c.8370+124049C>A (n.8370+124049C>A) | |
2 | g.108897095C>G | CA348048096 | EDAR,RANBP2 | c.1159G>C (p.Glu387Gln) c.1255G>C (p.Glu419Gln) c.1306G>C (p.Glu436Gln) c.1210G>C (p.Glu404Gln) c.586G>C (p.Glu196Gln) c.1399G>C (p.Glu467Gln) c.1303G>C (p.Glu435Gln) c.8370+124049C>G (n.8370+124049C>G) | |
2 | g.108897095C>T | CA348048097 | EDAR,RANBP2 | c.1159G>A (p.Glu387Lys) c.1255G>A (p.Glu419Lys) c.1306G>A (p.Glu436Lys) c.1210G>A (p.Glu404Lys) c.586G>A (p.Glu196Lys) c.1399G>A (p.Glu467Lys) c.1303G>A (p.Glu435Lys) c.8370+124049C>T (n.8370+124049C>T) | |
2 | g.108897096A>C | CA348048099 | EDAR,RANBP2 | c.1158T>G (p.Asp386Glu) c.1254T>G (p.Asp418Glu) c.1305T>G (p.Asp435Glu) c.1209T>G (p.Asp403Glu) c.585T>G (p.Asp195Glu) c.1398T>G (p.Asp466Glu) c.1302T>G (p.Asp434Glu) c.8370+124050A>C (n.8370+124050A>C) | |
2 | g.108897096A>G | CA428204130 | EDAR,RANBP2 | c.1158T>C (p.Asp386=) c.1254T>C (p.Asp418=) c.1305T>C (p.Asp435=) c.1209T>C (p.Asp403=) c.585T>C (p.Asp195=) c.1398T>C (p.Asp466=) c.1302T>C (p.Asp434=) c.8370+124050A>G (n.8370+124050A>G) | |
2 | g.108897096A>T | CA348048098 | EDAR,RANBP2 | c.1158T>A (p.Asp386Glu) c.1254T>A (p.Asp418Glu) c.1305T>A (p.Asp435Glu) c.1209T>A (p.Asp403Glu) c.585T>A (p.Asp195Glu) c.1398T>A (p.Asp466Glu) c.1302T>A (p.Asp434Glu) c.8370+124050A>T (n.8370+124050A>T) | |
2 | g.108897097T>A | CA348048100 | EDAR,RANBP2 | c.1157A>T (p.Asp386Val) c.1253A>T (p.Asp418Val) c.1304A>T (p.Asp435Val) c.1208A>T (p.Asp403Val) c.584A>T (p.Asp195Val) c.1397A>T (p.Asp466Val) c.1301A>T (p.Asp434Val) c.8370+124051T>A (n.8370+124051T>A) | |
2 | g.108897097T>C | CA1824807 | EDAR,RANBP2 | c.1157A>G (p.Asp386Gly) c.1253A>G (p.Asp418Gly) c.1304A>G (p.Asp435Gly) c.1208A>G (p.Asp403Gly) c.584A>G (p.Asp195Gly) c.1397A>G (p.Asp466Gly) c.1301A>G (p.Asp434Gly) c.8370+124051T>C (n.8370+124051T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897097T>G | CA348048101 | EDAR,RANBP2 | c.1157A>C (p.Asp386Ala) c.1253A>C (p.Asp418Ala) c.1304A>C (p.Asp435Ala) c.1208A>C (p.Asp403Ala) c.584A>C (p.Asp195Ala) c.1397A>C (p.Asp466Ala) c.1301A>C (p.Asp434Ala) c.8370+124051T>G (n.8370+124051T>G) | gnomAD v4 |
2 | g.108897097T= | CA1278354271 | EDAR,RANBP2 | c.1157A= (p.Asp386=) c.1253A= (p.Asp418=) c.1304A= (p.Asp435=) c.1208A= (p.Asp403=) c.584A= (p.Asp195=) c.1397A= (p.Asp466=) c.1301A= (p.Asp434=) c.8370+124051T= (n.8370+124051T=) | |
2 | g.108897098C>A | CA348048102 | EDAR,RANBP2 | c.1156G>T (p.Asp386Tyr) c.1252G>T (p.Asp418Tyr) c.1303G>T (p.Asp435Tyr) c.1207G>T (p.Asp403Tyr) c.583G>T (p.Asp195Tyr) c.1396G>T (p.Asp466Tyr) c.1300G>T (p.Asp434Tyr) c.8370+124052C>A (n.8370+124052C>A) | gnomAD v4 |
2 | g.108897098C= | CA1278354272 | EDAR,RANBP2 | c.1156G= (p.Asp386=) c.1252G= (p.Asp418=) c.1303G= (p.Asp435=) c.1207G= (p.Asp403=) c.583G= (p.Asp195=) c.1396G= (p.Asp466=) c.1300G= (p.Asp434=) c.8370+124052C= (n.8370+124052C=) | |
2 | g.108897098C>G | CA348048103 | EDAR,RANBP2 | c.1156G>C (p.Asp386His) c.1252G>C (p.Asp418His) c.1303G>C (p.Asp435His) c.1207G>C (p.Asp403His) c.583G>C (p.Asp195His) c.1396G>C (p.Asp466His) c.1300G>C (p.Asp434His) c.8370+124052C>G (n.8370+124052C>G) | COSMIC COSMIC |
2 | g.108897098C>T | CA1824808 | EDAR,RANBP2 | c.1156G>A (p.Asp386Asn) c.1252G>A (p.Asp418Asn) c.1303G>A (p.Asp435Asn) c.1207G>A (p.Asp403Asn) c.583G>A (p.Asp195Asn) c.1396G>A (p.Asp466Asn) c.1300G>A (p.Asp434Asn) c.8370+124052C>T (n.8370+124052C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897099C>A | CA348048104 | EDAR,RANBP2 | c.1155G>T (p.Arg385Ser) c.1251G>T (p.Arg417Ser) c.1302G>T (p.Arg434Ser) c.1206G>T (p.Arg402Ser) c.582G>T (p.Arg194Ser) c.1395G>T (p.Arg465Ser) c.1299G>T (p.Arg433Ser) c.8370+124053C>A (n.8370+124053C>A) | gnomAD v4 |
2 | g.108897099C>G | CA348048105 | EDAR,RANBP2 | c.1155G>C (p.Arg385Ser) c.1251G>C (p.Arg417Ser) c.1302G>C (p.Arg434Ser) c.1206G>C (p.Arg402Ser) c.582G>C (p.Arg194Ser) c.1395G>C (p.Arg465Ser) c.1299G>C (p.Arg433Ser) c.8370+124053C>G (n.8370+124053C>G) | |
2 | g.108897099C>T | CA428204132 | EDAR,RANBP2 | c.1155G>A (p.Arg385=) c.1251G>A (p.Arg417=) c.1302G>A (p.Arg434=) c.1206G>A (p.Arg402=) c.582G>A (p.Arg194=) c.1395G>A (p.Arg465=) c.1299G>A (p.Arg433=) c.8370+124053C>T (n.8370+124053C>T) | gnomAD v4 COSMIC COSMIC |
2 | g.108897100C>A | CA348048106 | EDAR,RANBP2 | c.1154G>T (p.Arg385Met) c.1250G>T (p.Arg417Met) c.1301G>T (p.Arg434Met) c.1205G>T (p.Arg402Met) c.581G>T (p.Arg194Met) c.1394G>T (p.Arg465Met) c.1298G>T (p.Arg433Met) c.8370+124054C>A (n.8370+124054C>A) | |
2 | g.108897100C= | CA1278354273 | EDAR,RANBP2 | c.1154G= (p.Arg385=) c.1250G= (p.Arg417=) c.1301G= (p.Arg434=) c.1205G= (p.Arg402=) c.581G= (p.Arg194=) c.1394G= (p.Arg465=) c.1298G= (p.Arg433=) c.8370+124054C= (n.8370+124054C=) | |
2 | g.108897100C>G | CA348048107 | EDAR,RANBP2 | c.1154G>C (p.Arg385Thr) c.1250G>C (p.Arg417Thr) c.1301G>C (p.Arg434Thr) c.1205G>C (p.Arg402Thr) c.581G>C (p.Arg194Thr) c.1394G>C (p.Arg465Thr) c.1298G>C (p.Arg433Thr) c.8370+124054C>G (n.8370+124054C>G) | |
2 | g.108897100C>T | CA348048108 | EDAR,RANBP2 | c.1154G>A (p.Arg385Lys) c.1250G>A (p.Arg417Lys) c.1301G>A (p.Arg434Lys) c.1205G>A (p.Arg402Lys) c.581G>A (p.Arg194Lys) c.1394G>A (p.Arg465Lys) c.1298G>A (p.Arg433Lys) c.8370+124054C>T (n.8370+124054C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897100_108897103dup | CA2580611685 | EDAR,RANBP2 | c.1151_1154dup (p.Asp386GlufsTer3) c.1247_1250dup (p.Asp418GlufsTer3) c.1298_1301dup (p.Asp435GlufsTer3) c.1202_1205dup (p.Asp403GlufsTer3) c.578_581dup (p.Asp195GlufsTer3) c.1391_1394dup (p.Asp466GlufsTer3) c.1295_1298dup (p.Asp434GlufsTer3) c.8370+124054_8370+124057dup (n.8370+124054_8370+124057dup) | ClinVar dbSNP |
2 | g.108897101T>A | CA348048109 | EDAR,RANBP2 | c.1153A>T (p.Arg385Trp) c.1249A>T (p.Arg417Trp) c.1300A>T (p.Arg434Trp) c.1204A>T (p.Arg402Trp) c.580A>T (p.Arg194Trp) c.1393A>T (p.Arg465Trp) c.1297A>T (p.Arg433Trp) c.8370+124055T>A (n.8370+124055T>A) | |
2 | g.108897101T>C | CA348048110 | EDAR,RANBP2 | c.1153A>G (p.Arg385Gly) c.1249A>G (p.Arg417Gly) c.1300A>G (p.Arg434Gly) c.1204A>G (p.Arg402Gly) c.580A>G (p.Arg194Gly) c.1393A>G (p.Arg465Gly) c.1297A>G (p.Arg433Gly) c.8370+124055T>C (n.8370+124055T>C) | gnomAD v4 |
2 | g.108897101T>G | CA428204133 | EDAR,RANBP2 | c.1153A>C (p.Arg385=) c.1249A>C (p.Arg417=) c.1300A>C (p.Arg434=) c.1204A>C (p.Arg402=) c.580A>C (p.Arg194=) c.1393A>C (p.Arg465=) c.1297A>C (p.Arg433=) c.8370+124055T>G (n.8370+124055T>G) | |
2 | g.108897102C>A | CA348048111 | EDAR,RANBP2 | c.1152G>T (p.Lys384Asn) c.1248G>T (p.Lys416Asn) c.1299G>T (p.Lys433Asn) c.1203G>T (p.Lys401Asn) c.579G>T (p.Lys193Asn) c.1392G>T (p.Lys464Asn) c.1296G>T (p.Lys432Asn) c.8370+124056C>A (n.8370+124056C>A) | |
2 | g.108897102C= | CA1278354274 | EDAR,RANBP2 | c.1152G= (p.Lys384=) c.1248G= (p.Lys416=) c.1299G= (p.Lys433=) c.1203G= (p.Lys401=) c.579G= (p.Lys193=) c.1392G= (p.Lys464=) c.1296G= (p.Lys432=) c.8370+124056C= (n.8370+124056C=) | |
2 | g.108897102C>G | CA348048112 | EDAR,RANBP2 | c.1152G>C (p.Lys384Asn) c.1248G>C (p.Lys416Asn) c.1299G>C (p.Lys433Asn) c.1203G>C (p.Lys401Asn) c.579G>C (p.Lys193Asn) c.1392G>C (p.Lys464Asn) c.1296G>C (p.Lys432Asn) c.8370+124056C>G (n.8370+124056C>G) | |
2 | g.108897102C>T | CA428204134 | EDAR,RANBP2 | c.1152G>A (p.Lys384=) c.1248G>A (p.Lys416=) c.1299G>A (p.Lys433=) c.1203G>A (p.Lys401=) c.579G>A (p.Lys193=) c.1392G>A (p.Lys464=) c.1296G>A (p.Lys432=) c.8370+124056C>T (n.8370+124056C>T) | dbSNP |
2 | g.108897103T>A | CA348048115 | EDAR,RANBP2 | c.1151A>T (p.Lys384Met) c.1247A>T (p.Lys416Met) c.1298A>T (p.Lys433Met) c.1202A>T (p.Lys401Met) c.578A>T (p.Lys193Met) c.1391A>T (p.Lys464Met) c.1295A>T (p.Lys432Met) c.8370+124057T>A (n.8370+124057T>A) | |
2 | g.108897103T>C | CA348048113 | EDAR,RANBP2 | c.1151A>G (p.Lys384Arg) c.1247A>G (p.Lys416Arg) c.1298A>G (p.Lys433Arg) c.1202A>G (p.Lys401Arg) c.578A>G (p.Lys193Arg) c.1391A>G (p.Lys464Arg) c.1295A>G (p.Lys432Arg) c.8370+124057T>C (n.8370+124057T>C) | |
2 | g.108897103T>G | CA348048114 | EDAR,RANBP2 | c.1151A>C (p.Lys384Thr) c.1247A>C (p.Lys416Thr) c.1298A>C (p.Lys433Thr) c.1202A>C (p.Lys401Thr) c.578A>C (p.Lys193Thr) c.1391A>C (p.Lys464Thr) c.1295A>C (p.Lys432Thr) c.8370+124057T>G (n.8370+124057T>G) | |
2 | g.108897104T>A | CA348048116 | EDAR,RANBP2 | c.1150A>T (p.Lys384Ter) c.1246A>T (p.Lys416Ter) c.1297A>T (p.Lys433Ter) c.1201A>T (p.Lys401Ter) c.577A>T (p.Lys193Ter) c.1390A>T (p.Lys464Ter) c.1294A>T (p.Lys432Ter) c.8370+124058T>A (n.8370+124058T>A) | |
2 | g.108897104T>C | CA348048117 | EDAR,RANBP2 | c.1150A>G (p.Lys384Glu) c.1246A>G (p.Lys416Glu) c.1297A>G (p.Lys433Glu) c.1201A>G (p.Lys401Glu) c.577A>G (p.Lys193Glu) c.1390A>G (p.Lys464Glu) c.1294A>G (p.Lys432Glu) c.8370+124058T>C (n.8370+124058T>C) | |
2 | g.108897104T>G | CA348048118 | EDAR,RANBP2 | c.1150A>C (p.Lys384Gln) c.1246A>C (p.Lys416Gln) c.1297A>C (p.Lys433Gln) c.1201A>C (p.Lys401Gln) c.577A>C (p.Lys193Gln) c.1390A>C (p.Lys464Gln) c.1294A>C (p.Lys432Gln) c.8370+124058T>G (n.8370+124058T>G) | |
2 | g.108897105C>A | CA428204135 | EDAR,RANBP2 | c.1149G>T (p.Leu383=) c.1245G>T (p.Leu415=) c.1296G>T (p.Leu432=) c.1200G>T (p.Leu400=) c.576G>T (p.Leu192=) c.1389G>T (p.Leu463=) c.1293G>T (p.Leu431=) c.8370+124059C>A (n.8370+124059C>A) | |
2 | g.108897105C= | CA1278354275 | EDAR,RANBP2 | c.1149G= (p.Leu383=) c.1245G= (p.Leu415=) c.1296G= (p.Leu432=) c.1200G= (p.Leu400=) c.576G= (p.Leu192=) c.1389G= (p.Leu463=) c.1293G= (p.Leu431=) c.8370+124059C= (n.8370+124059C=) | |
2 | g.108897105C>G | CA428204136 | EDAR,RANBP2 | c.1149G>C (p.Leu383=) c.1245G>C (p.Leu415=) c.1296G>C (p.Leu432=) c.1200G>C (p.Leu400=) c.576G>C (p.Leu192=) c.1389G>C (p.Leu463=) c.1293G>C (p.Leu431=) c.8370+124059C>G (n.8370+124059C>G) | |
2 | g.108897105C>T | CA53464798 | EDAR,RANBP2 | c.1149G>A (p.Leu383=) c.1245G>A (p.Leu415=) c.1296G>A (p.Leu432=) c.1200G>A (p.Leu400=) c.576G>A (p.Leu192=) c.1389G>A (p.Leu463=) c.1293G>A (p.Leu431=) c.8370+124059C>T (n.8370+124059C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897106_108897109del | CA2586969741 | EDAR,RANBP2 | c.1146_1149del (p.Leu383ArgfsTer8) c.1242_1245del (p.Leu415ArgfsTer8) c.1293_1296del (p.Leu432ArgfsTer8) c.1197_1200del (p.Leu400ArgfsTer8) c.573_576del (p.Leu192ArgfsTer8) c.1386_1389del (p.Leu463ArgfsTer8) c.1290_1293del (p.Leu431ArgfsTer8) c.8370+124060_8370+124063del (n.8370+124060_8370+124063del) | |
2 | g.108897106A>C | CA348048119 | EDAR,RANBP2 | c.1148T>G (p.Leu383Arg) c.1244T>G (p.Leu415Arg) c.1295T>G (p.Leu432Arg) c.1199T>G (p.Leu400Arg) c.575T>G (p.Leu192Arg) c.1388T>G (p.Leu463Arg) c.1292T>G (p.Leu431Arg) c.8370+124060A>C (n.8370+124060A>C) | |
2 | g.108897106A>G | CA348048120 | EDAR,RANBP2 | c.1148T>C (p.Leu383Pro) c.1244T>C (p.Leu415Pro) c.1295T>C (p.Leu432Pro) c.1199T>C (p.Leu400Pro) c.575T>C (p.Leu192Pro) c.1388T>C (p.Leu463Pro) c.1292T>C (p.Leu431Pro) c.8370+124060A>G (n.8370+124060A>G) | ClinVar |
2 | g.108897106A>T | CA348048121 | EDAR,RANBP2 | c.1148T>A (p.Leu383Gln) c.1244T>A (p.Leu415Gln) c.1295T>A (p.Leu432Gln) c.1199T>A (p.Leu400Gln) c.575T>A (p.Leu192Gln) c.1388T>A (p.Leu463Gln) c.1292T>A (p.Leu431Gln) c.8370+124060A>T (n.8370+124060A>T) | |
2 | g.108897107G>A | CA428204138 | EDAR,RANBP2 | c.1147C>T (p.Leu383=) c.1243C>T (p.Leu415=) c.1294C>T (p.Leu432=) c.1198C>T (p.Leu400=) c.574C>T (p.Leu192=) c.1387C>T (p.Leu463=) c.1291C>T (p.Leu431=) c.8370+124061G>A (n.8370+124061G>A) | |
2 | g.108897107G>C | CA348048122 | EDAR,RANBP2 | c.1147C>G (p.Leu383Val) c.1243C>G (p.Leu415Val) c.1294C>G (p.Leu432Val) c.1198C>G (p.Leu400Val) c.574C>G (p.Leu192Val) c.1387C>G (p.Leu463Val) c.1291C>G (p.Leu431Val) c.8370+124061G>C (n.8370+124061G>C) | |
2 | g.108897107G>T | CA348048123 | EDAR,RANBP2 | c.1147C>A (p.Leu383Met) c.1243C>A (p.Leu415Met) c.1294C>A (p.Leu432Met) c.1198C>A (p.Leu400Met) c.574C>A (p.Leu192Met) c.1387C>A (p.Leu463Met) c.1291C>A (p.Leu431Met) c.8370+124061G>T (n.8370+124061G>T) | |
2 | g.108897108G>A | CA428204139 | EDAR,RANBP2 | c.1146C>T (p.Gly382=) c.1242C>T (p.Gly414=) c.1293C>T (p.Gly431=) c.1197C>T (p.Gly399=) c.573C>T (p.Gly191=) c.1386C>T (p.Gly462=) c.1290C>T (p.Gly430=) c.8370+124062G>A (n.8370+124062G>A) | |
2 | g.108897108G>C | CA428204140 | EDAR,RANBP2 | c.1146C>G (p.Gly382=) c.1242C>G (p.Gly414=) c.1293C>G (p.Gly431=) c.1197C>G (p.Gly399=) c.573C>G (p.Gly191=) c.1386C>G (p.Gly462=) c.1290C>G (p.Gly430=) c.8370+124062G>C (n.8370+124062G>C) | |
2 | g.108897108G>T | CA428204141 | EDAR,RANBP2 | c.1146C>A (p.Gly382=) c.1242C>A (p.Gly414=) c.1293C>A (p.Gly431=) c.1197C>A (p.Gly399=) c.573C>A (p.Gly191=) c.1386C>A (p.Gly462=) c.1290C>A (p.Gly430=) c.8370+124062G>T (n.8370+124062G>T) | |
2 | g.108897109C>A | CA348048124 | EDAR,RANBP2 | c.1145G>T (p.Gly382Val) c.1241G>T (p.Gly414Val) c.1292G>T (p.Gly431Val) c.1196G>T (p.Gly399Val) c.572G>T (p.Gly191Val) c.1385G>T (p.Gly462Val) c.1289G>T (p.Gly430Val) c.8370+124063C>A (n.8370+124063C>A) | |
2 | g.108897109C= | CA1278354276 | EDAR,RANBP2 | c.1145G= (p.Gly382=) c.1241G= (p.Gly414=) c.1292G= (p.Gly431=) c.1196G= (p.Gly399=) c.572G= (p.Gly191=) c.1385G= (p.Gly462=) c.1289G= (p.Gly430=) c.8370+124063C= (n.8370+124063C=) | |
2 | g.108897109C>G | CA348048125 | EDAR,RANBP2 | c.1145G>C (p.Gly382Ala) c.1241G>C (p.Gly414Ala) c.1292G>C (p.Gly431Ala) c.1196G>C (p.Gly399Ala) c.572G>C (p.Gly191Ala) c.1385G>C (p.Gly462Ala) c.1289G>C (p.Gly430Ala) c.8370+124063C>G (n.8370+124063C>G) | |
2 | g.108897109C>T | CA348048126 | EDAR,RANBP2 | c.1145G>A (p.Gly382Asp) c.1241G>A (p.Gly414Asp) c.1292G>A (p.Gly431Asp) c.1196G>A (p.Gly399Asp) c.572G>A (p.Gly191Asp) c.1385G>A (p.Gly462Asp) c.1289G>A (p.Gly430Asp) c.8370+124063C>T (n.8370+124063C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897110C>A | CA348048128 | EDAR,RANBP2 | c.1144G>T (p.Gly382Cys) c.1240G>T (p.Gly414Cys) c.1291G>T (p.Gly431Cys) c.1195G>T (p.Gly399Cys) c.571G>T (p.Gly191Cys) c.1384G>T (p.Gly462Cys) c.1288G>T (p.Gly430Cys) c.8370+124064C>A (n.8370+124064C>A) | |
2 | g.108897110C= | CA1278354277 | EDAR,RANBP2 | c.1144G= (p.Gly382=) c.1240G= (p.Gly414=) c.1291G= (p.Gly431=) c.1195G= (p.Gly399=) c.571G= (p.Gly191=) c.1384G= (p.Gly462=) c.1288G= (p.Gly430=) c.8370+124064C= (n.8370+124064C=) | |
2 | g.108897110C>G | CA348048127 | EDAR,RANBP2 | c.1144G>C (p.Gly382Arg) c.1240G>C (p.Gly414Arg) c.1291G>C (p.Gly431Arg) c.1195G>C (p.Gly399Arg) c.571G>C (p.Gly191Arg) c.1384G>C (p.Gly462Arg) c.1288G>C (p.Gly430Arg) c.8370+124064C>G (n.8370+124064C>G) | |
2 | g.108897110C>T | CA274979 | EDAR,RANBP2 | c.1144G>A (p.Gly382Ser) c.1240G>A (p.Gly414Ser) c.1291G>A (p.Gly431Ser) c.1195G>A (p.Gly399Ser) c.571G>A (p.Gly191Ser) c.1384G>A (p.Gly462Ser) c.1288G>A (p.Gly430Ser) c.8370+124064C>T (n.8370+124064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897111G>A | CA1824809 | EDAR,RANBP2 | c.1143C>T (p.Phe381=) c.1239C>T (p.Phe413=) c.1290C>T (p.Phe430=) c.1194C>T (p.Phe398=) c.570C>T (p.Phe190=) c.1383C>T (p.Phe461=) c.1287C>T (p.Phe429=) c.8370+124065G>A (n.8370+124065G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897111G>C | CA348048129 | EDAR,RANBP2 | c.1143C>G (p.Phe381Leu) c.1239C>G (p.Phe413Leu) c.1290C>G (p.Phe430Leu) c.1194C>G (p.Phe398Leu) c.570C>G (p.Phe190Leu) c.1383C>G (p.Phe461Leu) c.1287C>G (p.Phe429Leu) c.8370+124065G>C (n.8370+124065G>C) | |
2 | g.108897111G= | CA1278354278 | EDAR,RANBP2 | c.1143C= (p.Phe381=) c.1239C= (p.Phe413=) c.1290C= (p.Phe430=) c.1194C= (p.Phe398=) c.570C= (p.Phe190=) c.1383C= (p.Phe461=) c.1287C= (p.Phe429=) c.8370+124065G= (n.8370+124065G=) | |
2 | g.108897111G>T | CA348048130 | EDAR,RANBP2 | c.1143C>A (p.Phe381Leu) c.1239C>A (p.Phe413Leu) c.1290C>A (p.Phe430Leu) c.1194C>A (p.Phe398Leu) c.570C>A (p.Phe190Leu) c.1383C>A (p.Phe461Leu) c.1287C>A (p.Phe429Leu) c.8370+124065G>T (n.8370+124065G>T) | |
2 | g.108897112A= | CA1278354279 | EDAR,RANBP2 | c.1142T= (p.Phe381=) c.1238T= (p.Phe413=) c.1289T= (p.Phe430=) c.1193T= (p.Phe398=) c.569T= (p.Phe190=) c.1382T= (p.Phe461=) c.1286T= (p.Phe429=) c.8370+124066A= (n.8370+124066A=) | |
2 | g.108897112A>C | CA348048131 | EDAR,RANBP2 | c.1142T>G (p.Phe381Cys) c.1238T>G (p.Phe413Cys) c.1289T>G (p.Phe430Cys) c.1193T>G (p.Phe398Cys) c.569T>G (p.Phe190Cys) c.1382T>G (p.Phe461Cys) c.1286T>G (p.Phe429Cys) c.8370+124066A>C (n.8370+124066A>C) | |
2 | g.108897112A>G | CA348048132 | EDAR,RANBP2 | c.1142T>C (p.Phe381Ser) c.1238T>C (p.Phe413Ser) c.1289T>C (p.Phe430Ser) c.1193T>C (p.Phe398Ser) c.569T>C (p.Phe190Ser) c.1382T>C (p.Phe461Ser) c.1286T>C (p.Phe429Ser) c.8370+124066A>G (n.8370+124066A>G) | ClinVar dbSNP |
2 | g.108897112A>T | CA348048133 | EDAR,RANBP2 | c.1142T>A (p.Phe381Tyr) c.1238T>A (p.Phe413Tyr) c.1289T>A (p.Phe430Tyr) c.1193T>A (p.Phe398Tyr) c.569T>A (p.Phe190Tyr) c.1382T>A (p.Phe461Tyr) c.1286T>A (p.Phe429Tyr) c.8370+124066A>T (n.8370+124066A>T) | |
2 | g.108897113A>C | CA348048134 | EDAR,RANBP2 | c.1141T>G (p.Phe381Val) c.1237T>G (p.Phe413Val) c.1288T>G (p.Phe430Val) c.1192T>G (p.Phe398Val) c.568T>G (p.Phe190Val) c.1381T>G (p.Phe461Val) c.1285T>G (p.Phe429Val) c.8370+124067A>C (n.8370+124067A>C) | |
2 | g.108897113A>G | CA348048135 | EDAR,RANBP2 | c.1141T>C (p.Phe381Leu) c.1237T>C (p.Phe413Leu) c.1288T>C (p.Phe430Leu) c.1192T>C (p.Phe398Leu) c.568T>C (p.Phe190Leu) c.1381T>C (p.Phe461Leu) c.1285T>C (p.Phe429Leu) c.8370+124067A>G (n.8370+124067A>G) | |
2 | g.108897113A>T | CA348048136 | EDAR,RANBP2 | c.1141T>A (p.Phe381Ile) c.1237T>A (p.Phe413Ile) c.1288T>A (p.Phe430Ile) c.1192T>A (p.Phe398Ile) c.568T>A (p.Phe190Ile) c.1381T>A (p.Phe461Ile) c.1285T>A (p.Phe429Ile) c.8370+124067A>T (n.8370+124067A>T) | |
2 | g.108897114G>A | CA1824810 | EDAR,RANBP2 | c.1140C>T (p.Ser380=) c.1236C>T (p.Ser412=) c.1287C>T (p.Ser429=) c.1191C>T (p.Ser397=) c.567C>T (p.Ser189=) c.1380C>T (p.Ser460=) c.1284C>T (p.Ser428=) c.8370+124068G>A (n.8370+124068G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897114G>C | CA348048137 | EDAR,RANBP2 | c.1140C>G (p.Ser380Arg) c.1236C>G (p.Ser412Arg) c.1287C>G (p.Ser429Arg) c.1191C>G (p.Ser397Arg) c.567C>G (p.Ser189Arg) c.1380C>G (p.Ser460Arg) c.1284C>G (p.Ser428Arg) c.8370+124068G>C (n.8370+124068G>C) | |
2 | g.108897114G= | CA1278354280 | EDAR,RANBP2 | c.1140C= (p.Ser380=) c.1236C= (p.Ser412=) c.1287C= (p.Ser429=) c.1191C= (p.Ser397=) c.567C= (p.Ser189=) c.1380C= (p.Ser460=) c.1284C= (p.Ser428=) c.8370+124068G= (n.8370+124068G=) | |
2 | g.108897114G>T | CA348048138 | EDAR,RANBP2 | c.1140C>A (p.Ser380Arg) c.1236C>A (p.Ser412Arg) c.1287C>A (p.Ser429Arg) c.1191C>A (p.Ser397Arg) c.567C>A (p.Ser189Arg) c.1380C>A (p.Ser460Arg) c.1284C>A (p.Ser428Arg) c.8370+124068G>T (n.8370+124068G>T) | gnomAD v4 |
2 | g.108897115C>A | CA348048140 | EDAR,RANBP2 | c.1139G>T (p.Ser380Ile) c.1235G>T (p.Ser412Ile) c.1286G>T (p.Ser429Ile) c.1190G>T (p.Ser397Ile) c.566G>T (p.Ser189Ile) c.1379G>T (p.Ser460Ile) c.1283G>T (p.Ser428Ile) c.8370+124069C>A (n.8370+124069C>A) | |
2 | g.108897115C= | CA1278354281 | EDAR,RANBP2 | c.1139G= (p.Ser380=) c.1235G= (p.Ser412=) c.1286G= (p.Ser429=) c.1190G= (p.Ser397=) c.566G= (p.Ser189=) c.1379G= (p.Ser460=) c.1283G= (p.Ser428=) c.8370+124069C= (n.8370+124069C=) | |
2 | g.108897115C>G | CA348048141 | EDAR,RANBP2 | c.1139G>C (p.Ser380Thr) c.1235G>C (p.Ser412Thr) c.1286G>C (p.Ser429Thr) c.1190G>C (p.Ser397Thr) c.566G>C (p.Ser189Thr) c.1379G>C (p.Ser460Thr) c.1283G>C (p.Ser428Thr) c.8370+124069C>G (n.8370+124069C>G) | |
2 | g.108897115C>T | CA348048139 | EDAR,RANBP2 | c.1139G>A (p.Ser380Asn) c.1235G>A (p.Ser412Asn) c.1286G>A (p.Ser429Asn) c.1190G>A (p.Ser397Asn) c.566G>A (p.Ser189Asn) c.1379G>A (p.Ser460Asn) c.1283G>A (p.Ser428Asn) c.8370+124069C>T (n.8370+124069C>T) | dbSNP gnomAD v4 |
2 | g.108897118_108897119del | CA2660593629 | EDAR,RANBP2 | c.1138_1139del (p.Ser380LeufsTer7) c.1234_1235del (p.Ser412LeufsTer7) c.1285_1286del (p.Ser429LeufsTer7) c.1189_1190del (p.Ser397LeufsTer7) c.565_566del (p.Ser189LeufsTer7) c.1378_1379del (p.Ser460LeufsTer7) c.1282_1283del (p.Ser428LeufsTer7) c.8370+124072_8370+124073del (n.8370+124072_8370+124073del) | gnomAD v4 |
2 | g.108897116T>A | CA348048142 | EDAR,RANBP2 | c.1138A>T (p.Ser380Cys) c.1234A>T (p.Ser412Cys) c.1285A>T (p.Ser429Cys) c.1189A>T (p.Ser397Cys) c.565A>T (p.Ser189Cys) c.1378A>T (p.Ser460Cys) c.1282A>T (p.Ser428Cys) c.8370+124070T>A (n.8370+124070T>A) | |
2 | g.108897116T>C | CA348048143 | EDAR,RANBP2 | c.1138A>G (p.Ser380Gly) c.1234A>G (p.Ser412Gly) c.1285A>G (p.Ser429Gly) c.1189A>G (p.Ser397Gly) c.565A>G (p.Ser189Gly) c.1378A>G (p.Ser460Gly) c.1282A>G (p.Ser428Gly) c.8370+124070T>C (n.8370+124070T>C) | |
2 | g.108897116T>G | CA1824811 | EDAR,RANBP2 | c.1138A>C (p.Ser380Arg) c.1234A>C (p.Ser412Arg) c.1285A>C (p.Ser429Arg) c.1189A>C (p.Ser397Arg) c.565A>C (p.Ser189Arg) c.1378A>C (p.Ser460Arg) c.1282A>C (p.Ser428Arg) c.8370+124070T>G (n.8370+124070T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897116T= | CA1278354282 | EDAR,RANBP2 | c.1138A= (p.Ser380=) c.1234A= (p.Ser412=) c.1285A= (p.Ser429=) c.1189A= (p.Ser397=) c.565A= (p.Ser189=) c.1378A= (p.Ser460=) c.1282A= (p.Ser428=) c.8370+124070T= (n.8370+124070T=) | |
2 | g.108897117C>A | CA348048144 | EDAR,RANBP2 | c.1137G>T (p.Glu379Asp) c.1233G>T (p.Glu411Asp) c.1284G>T (p.Glu428Asp) c.1188G>T (p.Glu396Asp) c.564G>T (p.Glu188Asp) c.1377G>T (p.Glu459Asp) c.1281G>T (p.Glu427Asp) c.8370+124071C>A (n.8370+124071C>A) | dbSNP gnomAD v4 |
2 | g.108897117C= | CA1278354283 | EDAR,RANBP2 | c.1137G= (p.Glu379=) c.1233G= (p.Glu411=) c.1284G= (p.Glu428=) c.1188G= (p.Glu396=) c.564G= (p.Glu188=) c.1377G= (p.Glu459=) c.1281G= (p.Glu427=) c.8370+124071C= (n.8370+124071C=) | |
2 | g.108897117C>G | CA348048145 | EDAR,RANBP2 | c.1137G>C (p.Glu379Asp) c.1233G>C (p.Glu411Asp) c.1284G>C (p.Glu428Asp) c.1188G>C (p.Glu396Asp) c.564G>C (p.Glu188Asp) c.1377G>C (p.Glu459Asp) c.1281G>C (p.Glu427Asp) c.8370+124071C>G (n.8370+124071C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897117C>T | CA428204143 | EDAR,RANBP2 | c.1137G>A (p.Glu379=) c.1233G>A (p.Glu411=) c.1284G>A (p.Glu428=) c.1188G>A (p.Glu396=) c.564G>A (p.Glu188=) c.1377G>A (p.Glu459=) c.1281G>A (p.Glu427=) c.8370+124071C>T (n.8370+124071C>T) | |
2 | g.108897118T>A | CA348048148 | EDAR,RANBP2 | c.1136A>T (p.Glu379Val) c.1232A>T (p.Glu411Val) c.1283A>T (p.Glu428Val) c.1187A>T (p.Glu396Val) c.563A>T (p.Glu188Val) c.1376A>T (p.Glu459Val) c.1280A>T (p.Glu427Val) c.8370+124072T>A (n.8370+124072T>A) | |
2 | g.108897118T>C | CA348048146 | EDAR,RANBP2 | c.1136A>G (p.Glu379Gly) c.1232A>G (p.Glu411Gly) c.1283A>G (p.Glu428Gly) c.1187A>G (p.Glu396Gly) c.563A>G (p.Glu188Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.8370+124072T>C (n.8370+124072T>C) | |
2 | g.108897118T>G | CA348048147 | EDAR,RANBP2 | c.1136A>C (p.Glu379Ala) c.1232A>C (p.Glu411Ala) c.1283A>C (p.Glu428Ala) c.1187A>C (p.Glu396Ala) c.563A>C (p.Glu188Ala) c.1376A>C (p.Glu459Ala) c.1280A>C (p.Glu427Ala) c.8370+124072T>G (n.8370+124072T>G) | |
2 | g.108897119C>A | CA348048149 | EDAR,RANBP2 | c.1135G>T (p.Glu379Ter) c.1231G>T (p.Glu411Ter) c.1282G>T (p.Glu428Ter) c.1186G>T (p.Glu396Ter) c.562G>T (p.Glu188Ter) c.1375G>T (p.Glu459Ter) c.1279G>T (p.Glu427Ter) c.8370+124073C>A (n.8370+124073C>A) | |
2 | g.108897119C= | CA1278354284 | EDAR,RANBP2 | c.1135G= (p.Glu379=) c.1231G= (p.Glu411=) c.1282G= (p.Glu428=) c.1186G= (p.Glu396=) c.562G= (p.Glu188=) c.1375G= (p.Glu459=) c.1279G= (p.Glu427=) c.8370+124073C= (n.8370+124073C=) | |
2 | g.108897119C>G | CA348048150 | EDAR,RANBP2 | c.1135G>C (p.Glu379Gln) c.1231G>C (p.Glu411Gln) c.1282G>C (p.Glu428Gln) c.1186G>C (p.Glu396Gln) c.562G>C (p.Glu188Gln) c.1375G>C (p.Glu459Gln) c.1279G>C (p.Glu427Gln) c.8370+124073C>G (n.8370+124073C>G) | |
2 | g.108897119C>T | CA1824812 | EDAR,RANBP2 | c.1135G>A (p.Glu379Lys) c.1231G>A (p.Glu411Lys) c.1282G>A (p.Glu428Lys) c.1186G>A (p.Glu396Lys) c.562G>A (p.Glu188Lys) c.1375G>A (p.Glu459Lys) c.1279G>A (p.Glu427Lys) c.8370+124073C>T (n.8370+124073C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897120G>A | CA428204147 | EDAR,RANBP2 | c.1134C>T (p.Ala378=) c.1230C>T (p.Ala410=) c.1281C>T (p.Ala427=) c.1185C>T (p.Ala395=) c.561C>T (p.Ala187=) c.1374C>T (p.Ala458=) c.1278C>T (p.Ala426=) c.8370+124074G>A (n.8370+124074G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897120G>C | CA428204146 | EDAR,RANBP2 | c.1134C>G (p.Ala378=) c.1230C>G (p.Ala410=) c.1281C>G (p.Ala427=) c.1185C>G (p.Ala395=) c.561C>G (p.Ala187=) c.1374C>G (p.Ala458=) c.1278C>G (p.Ala426=) c.8370+124074G>C (n.8370+124074G>C) | |
2 | g.108897120G= | CA1278354285 | EDAR,RANBP2 | c.1134C= (p.Ala378=) c.1230C= (p.Ala410=) c.1281C= (p.Ala427=) c.1185C= (p.Ala395=) c.561C= (p.Ala187=) c.1374C= (p.Ala458=) c.1278C= (p.Ala426=) c.8370+124074G= (n.8370+124074G=) | |
2 | g.108897120G>T | CA428204145 | EDAR,RANBP2 | c.1134C>A (p.Ala378=) c.1230C>A (p.Ala410=) c.1281C>A (p.Ala427=) c.1185C>A (p.Ala395=) c.561C>A (p.Ala187=) c.1374C>A (p.Ala458=) c.1278C>A (p.Ala426=) c.8370+124074G>T (n.8370+124074G>T) | |
2 | g.108897121G>A | CA348048151 | EDAR,RANBP2 | c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) c.1280C>T (p.Ala427Val) c.1184C>T (p.Ala395Val) c.560C>T (p.Ala187Val) c.1373C>T (p.Ala458Val) c.1277C>T (p.Ala426Val) c.8370+124075G>A (n.8370+124075G>A) | ClinVar dbSNP |
2 | g.108897121G>C | CA348048152 | EDAR,RANBP2 | c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) c.1280C>G (p.Ala427Gly) c.1184C>G (p.Ala395Gly) c.560C>G (p.Ala187Gly) c.1373C>G (p.Ala458Gly) c.1277C>G (p.Ala426Gly) c.8370+124075G>C (n.8370+124075G>C) | |
2 | g.108897121G>T | CA348048153 | EDAR,RANBP2 | c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) c.1280C>A (p.Ala427Asp) c.1184C>A (p.Ala395Asp) c.560C>A (p.Ala187Asp) c.1373C>A (p.Ala458Asp) c.1277C>A (p.Ala426Asp) c.8370+124075G>T (n.8370+124075G>T) | |
2 | g.108897122C>A | CA348048156 | EDAR,RANBP2 | c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) c.1279G>T (p.Ala427Ser) c.1183G>T (p.Ala395Ser) c.559G>T (p.Ala187Ser) c.1372G>T (p.Ala458Ser) c.1276G>T (p.Ala426Ser) c.8370+124076C>A (n.8370+124076C>A) | |
2 | g.108897122C= | CA1278354286 | EDAR,RANBP2 | c.1132G= (p.Ala378=) c.1228G= (p.Ala410=) c.1279G= (p.Ala427=) c.1183G= (p.Ala395=) c.559G= (p.Ala187=) c.1372G= (p.Ala458=) c.1276G= (p.Ala426=) c.8370+124076C= (n.8370+124076C=) | |
2 | g.108897122C>G | CA348048155 | EDAR,RANBP2 | c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) c.1279G>C (p.Ala427Pro) c.1183G>C (p.Ala395Pro) c.559G>C (p.Ala187Pro) c.1372G>C (p.Ala458Pro) c.1276G>C (p.Ala426Pro) c.8370+124076C>G (n.8370+124076C>G) | |
2 | g.108897122C>T | CA348048154 | EDAR,RANBP2 | c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) c.1279G>A (p.Ala427Thr) c.1183G>A (p.Ala395Thr) c.559G>A (p.Ala187Thr) c.1372G>A (p.Ala458Thr) c.1276G>A (p.Ala426Thr) c.8370+124076C>T (n.8370+124076C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897123G>A | CA1824813 | EDAR,RANBP2 | c.1131C>T (p.Leu377=) c.1227C>T (p.Leu409=) c.1278C>T (p.Leu426=) c.1182C>T (p.Leu394=) c.558C>T (p.Leu186=) c.1371C>T (p.Leu457=) c.1275C>T (p.Leu425=) c.8370+124077G>A (n.8370+124077G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897123G>C | CA428204149 | EDAR,RANBP2 | c.1131C>G (p.Leu377=) c.1227C>G (p.Leu409=) c.1278C>G (p.Leu426=) c.1182C>G (p.Leu394=) c.558C>G (p.Leu186=) c.1371C>G (p.Leu457=) c.1275C>G (p.Leu425=) c.8370+124077G>C (n.8370+124077G>C) | |
2 | g.108897123G= | CA1278354287 | EDAR,RANBP2 | c.1131C= (p.Leu377=) c.1227C= (p.Leu409=) c.1278C= (p.Leu426=) c.1182C= (p.Leu394=) c.558C= (p.Leu186=) c.1371C= (p.Leu457=) c.1275C= (p.Leu425=) c.8370+124077G= (n.8370+124077G=) | |
2 | g.108897123G>T | CA428204148 | EDAR,RANBP2 | c.1131C>A (p.Leu377=) c.1227C>A (p.Leu409=) c.1278C>A (p.Leu426=) c.1182C>A (p.Leu394=) c.558C>A (p.Leu186=) c.1371C>A (p.Leu457=) c.1275C>A (p.Leu425=) c.8370+124077G>T (n.8370+124077G>T) | dbSNP |
2 | g.108897124A= | CA1278354288 | EDAR,RANBP2 | c.1130T= (p.Leu377=) c.1226T= (p.Leu409=) c.1277T= (p.Leu426=) c.1181T= (p.Leu394=) c.557T= (p.Leu186=) c.1370T= (p.Leu457=) c.1274T= (p.Leu425=) c.8370+124078A= (n.8370+124078A=) | |
2 | g.108897124A>C | CA348048157 | EDAR,RANBP2 | c.1130T>G (p.Leu377Arg) c.1226T>G (p.Leu409Arg) c.1277T>G (p.Leu426Arg) c.1181T>G (p.Leu394Arg) c.557T>G (p.Leu186Arg) c.1370T>G (p.Leu457Arg) c.1274T>G (p.Leu425Arg) c.8370+124078A>C (n.8370+124078A>C) | |
2 | g.108897124A>G | CA348048159 | EDAR,RANBP2 | c.1130T>C (p.Leu377Pro) c.1226T>C (p.Leu409Pro) c.1277T>C (p.Leu426Pro) c.1181T>C (p.Leu394Pro) c.557T>C (p.Leu186Pro) c.1370T>C (p.Leu457Pro) c.1274T>C (p.Leu425Pro) c.8370+124078A>G (n.8370+124078A>G) | ClinVar dbSNP |
2 | g.108897124A>T | CA348048158 | EDAR,RANBP2 | c.1130T>A (p.Leu377His) c.1226T>A (p.Leu409His) c.1277T>A (p.Leu426His) c.1181T>A (p.Leu394His) c.557T>A (p.Leu186His) c.1370T>A (p.Leu457His) c.1274T>A (p.Leu425His) c.8370+124078A>T (n.8370+124078A>T) | |
2 | g.108897125G>A | CA348048160 | EDAR,RANBP2 | c.1129C>T (p.Leu377Phe) c.1225C>T (p.Leu409Phe) c.1276C>T (p.Leu426Phe) c.1180C>T (p.Leu394Phe) c.556C>T (p.Leu186Phe) c.1369C>T (p.Leu457Phe) c.1273C>T (p.Leu425Phe) c.8370+124079G>A (n.8370+124079G>A) | |
2 | g.108897125G>C | CA348048162 | EDAR,RANBP2 | c.1129C>G (p.Leu377Val) c.1225C>G (p.Leu409Val) c.1276C>G (p.Leu426Val) c.1180C>G (p.Leu394Val) c.556C>G (p.Leu186Val) c.1369C>G (p.Leu457Val) c.1273C>G (p.Leu425Val) c.8370+124079G>C (n.8370+124079G>C) | |
2 | g.108897125G>T | CA348048161 | EDAR,RANBP2 | c.1129C>A (p.Leu377Ile) c.1225C>A (p.Leu409Ile) c.1276C>A (p.Leu426Ile) c.1180C>A (p.Leu394Ile) c.556C>A (p.Leu186Ile) c.1369C>A (p.Leu457Ile) c.1273C>A (p.Leu425Ile) c.8370+124079G>T (n.8370+124079G>T) | |
2 | g.108897126G>A | CA428204150 | EDAR,RANBP2 | c.1128C>T (p.His376=) c.1224C>T (p.His408=) c.1275C>T (p.His425=) c.1179C>T (p.His393=) c.555C>T (p.His185=) c.1368C>T (p.His456=) c.1272C>T (p.His424=) c.8370+124080G>A (n.8370+124080G>A) | ClinVar |
2 | g.108897126G>C | CA348048163 | EDAR,RANBP2 | c.1128C>G (p.His376Gln) c.1224C>G (p.His408Gln) c.1275C>G (p.His425Gln) c.1179C>G (p.His393Gln) c.555C>G (p.His185Gln) c.1368C>G (p.His456Gln) c.1272C>G (p.His424Gln) c.8370+124080G>C (n.8370+124080G>C) | |
2 | g.108897126G>T | CA348048164 | EDAR,RANBP2 | c.1128C>A (p.His376Gln) c.1224C>A (p.His408Gln) c.1275C>A (p.His425Gln) c.1179C>A (p.His393Gln) c.555C>A (p.His185Gln) c.1368C>A (p.His456Gln) c.1272C>A (p.His424Gln) c.8370+124080G>T (n.8370+124080G>T) | |
2 | g.108897127T>A | CA348048165 | EDAR,RANBP2 | c.1127A>T (p.His376Leu) c.1223A>T (p.His408Leu) c.1274A>T (p.His425Leu) c.1178A>T (p.His393Leu) c.554A>T (p.His185Leu) c.1367A>T (p.His456Leu) c.1271A>T (p.His424Leu) c.8370+124081T>A (n.8370+124081T>A) | |
2 | g.108897127T>C | CA348048166 | EDAR,RANBP2 | c.1127A>G (p.His376Arg) c.1223A>G (p.His408Arg) c.1274A>G (p.His425Arg) c.1178A>G (p.His393Arg) c.554A>G (p.His185Arg) c.1367A>G (p.His456Arg) c.1271A>G (p.His424Arg) c.8370+124081T>C (n.8370+124081T>C) | |
2 | g.108897127T>G | CA348048167 | EDAR,RANBP2 | c.1127A>C (p.His376Pro) c.1223A>C (p.His408Pro) c.1274A>C (p.His425Pro) c.1178A>C (p.His393Pro) c.554A>C (p.His185Pro) c.1367A>C (p.His456Pro) c.1271A>C (p.His424Pro) c.8370+124081T>G (n.8370+124081T>G) | dbSNP |
2 | g.108897127T= | CA1278354289 | EDAR,RANBP2 | c.1127A= (p.His376=) c.1223A= (p.His408=) c.1274A= (p.His425=) c.1178A= (p.His393=) c.554A= (p.His185=) c.1367A= (p.His456=) c.1271A= (p.His424=) c.8370+124081T= (n.8370+124081T=) | |
2 | g.108897128G>A | CA348048168 | EDAR,RANBP2 | c.1126C>T (p.His376Tyr) c.1222C>T (p.His408Tyr) c.1273C>T (p.His425Tyr) c.1177C>T (p.His393Tyr) c.553C>T (p.His185Tyr) c.1366C>T (p.His456Tyr) c.1270C>T (p.His424Tyr) c.8370+124082G>A (n.8370+124082G>A) | |
2 | g.108897128G>C | CA348048169 | EDAR,RANBP2 | c.1126C>G (p.His376Asp) c.1222C>G (p.His408Asp) c.1273C>G (p.His425Asp) c.1177C>G (p.His393Asp) c.553C>G (p.His185Asp) c.1366C>G (p.His456Asp) c.1270C>G (p.His424Asp) c.8370+124082G>C (n.8370+124082G>C) | |
2 | g.108897128G>T | CA348048170 | EDAR,RANBP2 | c.1126C>A (p.His376Asn) c.1222C>A (p.His408Asn) c.1273C>A (p.His425Asn) c.1177C>A (p.His393Asn) c.553C>A (p.His185Asn) c.1366C>A (p.His456Asn) c.1270C>A (p.His424Asn) c.8370+124082G>T (n.8370+124082G>T) | |
2 | g.108897129G>A | CA428204151 | EDAR,RANBP2 | c.1125C>T (p.Arg375=) c.1221C>T (p.Arg407=) c.1272C>T (p.Arg424=) c.1176C>T (p.Arg392=) c.552C>T (p.Arg184=) c.1365C>T (p.Arg455=) c.1269C>T (p.Arg423=) c.8370+124083G>A (n.8370+124083G>A) | |
2 | g.108897129G>C | CA428204152 | EDAR,RANBP2 | c.1125C>G (p.Arg375=) c.1221C>G (p.Arg407=) c.1272C>G (p.Arg424=) c.1176C>G (p.Arg392=) c.552C>G (p.Arg184=) c.1365C>G (p.Arg455=) c.1269C>G (p.Arg423=) c.8370+124083G>C (n.8370+124083G>C) | |
2 | g.108897129G>T | CA428204153 | EDAR,RANBP2 | c.1125C>A (p.Arg375=) c.1221C>A (p.Arg407=) c.1272C>A (p.Arg424=) c.1176C>A (p.Arg392=) c.552C>A (p.Arg184=) c.1365C>A (p.Arg455=) c.1269C>A (p.Arg423=) c.8370+124083G>T (n.8370+124083G>T) | |
2 | g.108897130C>A | CA348048172 | EDAR,RANBP2 | c.1124G>T (p.Arg375Leu) c.1220G>T (p.Arg407Leu) c.1271G>T (p.Arg424Leu) c.1175G>T (p.Arg392Leu) c.551G>T (p.Arg184Leu) c.1364G>T (p.Arg455Leu) c.1268G>T (p.Arg423Leu) c.8370+124084C>A (n.8370+124084C>A) | |
2 | g.108897130C= | CA1278354290 | EDAR,RANBP2 | c.1124G= (p.Arg375=) c.1220G= (p.Arg407=) c.1271G= (p.Arg424=) c.1175G= (p.Arg392=) c.551G= (p.Arg184=) c.1364G= (p.Arg455=) c.1268G= (p.Arg423=) c.8370+124084C= (n.8370+124084C=) | |
2 | g.108897130C>G | CA348048171 | EDAR,RANBP2 | c.1124G>C (p.Arg375Pro) c.1220G>C (p.Arg407Pro) c.1271G>C (p.Arg424Pro) c.1175G>C (p.Arg392Pro) c.551G>C (p.Arg184Pro) c.1364G>C (p.Arg455Pro) c.1268G>C (p.Arg423Pro) c.8370+124084C>G (n.8370+124084C>G) | gnomAD v4 |
2 | g.108897130C>T | CA253631 | EDAR,RANBP2 | c.1124G>A (p.Arg375His) c.1220G>A (p.Arg407His) c.1271G>A (p.Arg424His) c.1175G>A (p.Arg392His) c.551G>A (p.Arg184His) c.1364G>A (p.Arg455His) c.1268G>A (p.Arg423His) c.8370+124084C>T (n.8370+124084C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897131G>A | CA1824814 | EDAR,RANBP2 | c.1123C>T (p.Arg375Cys) c.1219C>T (p.Arg407Cys) c.1270C>T (p.Arg424Cys) c.1174C>T (p.Arg392Cys) c.550C>T (p.Arg184Cys) c.1363C>T (p.Arg455Cys) c.1267C>T (p.Arg423Cys) c.8370+124085G>A (n.8370+124085G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108897131G>C | CA348048173 | EDAR,RANBP2 | c.1123C>G (p.Arg375Gly) c.1219C>G (p.Arg407Gly) c.1270C>G (p.Arg424Gly) c.1174C>G (p.Arg392Gly) c.550C>G (p.Arg184Gly) c.1363C>G (p.Arg455Gly) c.1267C>G (p.Arg423Gly) c.8370+124085G>C (n.8370+124085G>C) | |
2 | g.108897131G= | CA1278354291 | EDAR,RANBP2 | c.1123C= (p.Arg375=) c.1219C= (p.Arg407=) c.1270C= (p.Arg424=) c.1174C= (p.Arg392=) c.550C= (p.Arg184=) c.1363C= (p.Arg455=) c.1267C= (p.Arg423=) c.8370+124085G= (n.8370+124085G=) | |
2 | g.108897131G>T | CA348048174 | EDAR,RANBP2 | c.1123C>A (p.Arg375Ser) c.1219C>A (p.Arg407Ser) c.1270C>A (p.Arg424Ser) c.1174C>A (p.Arg392Ser) c.550C>A (p.Arg184Ser) c.1363C>A (p.Arg455Ser) c.1267C>A (p.Arg423Ser) c.8370+124085G>T (n.8370+124085G>T) | |
2 | g.108897132C>A | CA348048175 | EDAR,RANBP2 | c.1122G>T (p.Trp374Cys) c.1218G>T (p.Trp406Cys) c.1269G>T (p.Trp423Cys) c.1173G>T (p.Trp391Cys) c.549G>T (p.Trp183Cys) c.1362G>T (p.Trp454Cys) c.1266G>T (p.Trp422Cys) c.8370+124086C>A (n.8370+124086C>A) | |
2 | g.108897132C>G | CA348048176 | EDAR,RANBP2 | c.1122G>C (p.Trp374Cys) c.1218G>C (p.Trp406Cys) c.1269G>C (p.Trp423Cys) c.1173G>C (p.Trp391Cys) c.549G>C (p.Trp183Cys) c.1362G>C (p.Trp454Cys) c.1266G>C (p.Trp422Cys) c.8370+124086C>G (n.8370+124086C>G) | |
2 | g.108897132C>T | CA348048177 | EDAR,RANBP2 | c.1122G>A (p.Trp374Ter) c.1218G>A (p.Trp406Ter) c.1269G>A (p.Trp423Ter) c.1173G>A (p.Trp391Ter) c.549G>A (p.Trp183Ter) c.1362G>A (p.Trp454Ter) c.1266G>A (p.Trp422Ter) c.8370+124086C>T (n.8370+124086C>T) | |
2 | g.108897133C>A | CA53464866 | EDAR,RANBP2 | c.1121G>T (p.Trp374Leu) c.1217G>T (p.Trp406Leu) c.1268G>T (p.Trp423Leu) c.1172G>T (p.Trp391Leu) c.548G>T (p.Trp183Leu) c.1361G>T (p.Trp454Leu) c.1265G>T (p.Trp422Leu) c.8370+124087C>A (n.8370+124087C>A) | dbSNP |
2 | g.108897133C= | CA1278354292 | EDAR,RANBP2 | c.1121G= (p.Trp374=) c.1217G= (p.Trp406=) c.1268G= (p.Trp423=) c.1172G= (p.Trp391=) c.548G= (p.Trp183=) c.1361G= (p.Trp454=) c.1265G= (p.Trp422=) c.8370+124087C= (n.8370+124087C=) | |
2 | g.108897133C>G | CA348048178 | EDAR,RANBP2 | c.1121G>C (p.Trp374Ser) c.1217G>C (p.Trp406Ser) c.1268G>C (p.Trp423Ser) c.1172G>C (p.Trp391Ser) c.548G>C (p.Trp183Ser) c.1361G>C (p.Trp454Ser) c.1265G>C (p.Trp422Ser) c.8370+124087C>G (n.8370+124087C>G) | |
2 | g.108897133C>T | CA10588306 | EDAR,RANBP2 | c.1121G>A (p.Trp374Ter) c.1217G>A (p.Trp406Ter) c.1268G>A (p.Trp423Ter) c.1172G>A (p.Trp391Ter) c.548G>A (p.Trp183Ter) c.1361G>A (p.Trp454Ter) c.1265G>A (p.Trp422Ter) c.8370+124087C>T (n.8370+124087C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.108897134A>C | CA348048179 | EDAR,RANBP2 | c.1120T>G (p.Trp374Gly) c.1216T>G (p.Trp406Gly) c.1267T>G (p.Trp423Gly) c.1171T>G (p.Trp391Gly) c.547T>G (p.Trp183Gly) c.1360T>G (p.Trp454Gly) c.1264T>G (p.Trp422Gly) c.8370+124088A>C (n.8370+124088A>C) | |
2 | g.108897134A>G | CA348048180 | EDAR,RANBP2 | c.1120T>C (p.Trp374Arg) c.1216T>C (p.Trp406Arg) c.1267T>C (p.Trp423Arg) c.1171T>C (p.Trp391Arg) c.547T>C (p.Trp183Arg) c.1360T>C (p.Trp454Arg) c.1264T>C (p.Trp422Arg) c.8370+124088A>G (n.8370+124088A>G) | |
2 | g.108897134A>T | CA348048181 | EDAR,RANBP2 | c.1120T>A (p.Trp374Arg) c.1216T>A (p.Trp406Arg) c.1267T>A (p.Trp423Arg) c.1171T>A (p.Trp391Arg) c.547T>A (p.Trp183Arg) c.1360T>A (p.Trp454Arg) c.1264T>A (p.Trp422Arg) c.8370+124088A>T (n.8370+124088A>T) | |
2 | g.108897135C>A | CA428204164 | EDAR,RANBP2 | c.1119G>T (p.Thr373=) c.1215G>T (p.Thr405=) c.1266G>T (p.Thr422=) c.1170G>T (p.Thr390=) c.546G>T (p.Thr182=) c.1359G>T (p.Thr453=) c.1263G>T (p.Thr421=) c.8370+124089C>A (n.8370+124089C>A) | |
2 | g.108897135C= | CA1278354293 | EDAR,RANBP2 | c.1119G= (p.Thr373=) c.1215G= (p.Thr405=) c.1266G= (p.Thr422=) c.1170G= (p.Thr390=) c.546G= (p.Thr182=) c.1359G= (p.Thr453=) c.1263G= (p.Thr421=) c.8370+124089C= (n.8370+124089C=) | |
2 | g.108897135C>G | CA428204165 | EDAR,RANBP2 | c.1119G>C (p.Thr373=) c.1215G>C (p.Thr405=) c.1266G>C (p.Thr422=) c.1170G>C (p.Thr390=) c.546G>C (p.Thr182=) c.1359G>C (p.Thr453=) c.1263G>C (p.Thr421=) c.8370+124089C>G (n.8370+124089C>G) | dbSNP gnomAD v2 |
2 | g.108897135C>T | CA1824815 | EDAR,RANBP2 | c.1119G>A (p.Thr373=) c.1215G>A (p.Thr405=) c.1266G>A (p.Thr422=) c.1170G>A (p.Thr390=) c.546G>A (p.Thr182=) c.1359G>A (p.Thr453=) c.1263G>A (p.Thr421=) c.8370+124089C>T (n.8370+124089C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897136G>A | CA348048182 | EDAR,RANBP2 | c.1118C>T (p.Thr373Met) c.1214C>T (p.Thr405Met) c.1265C>T (p.Thr422Met) c.1169C>T (p.Thr390Met) c.545C>T (p.Thr182Met) c.1358C>T (p.Thr453Met) c.1262C>T (p.Thr421Met) c.8370+124090G>A (n.8370+124090G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108897136G>C | CA348048183 | EDAR,RANBP2 | c.1118C>G (p.Thr373Arg) c.1214C>G (p.Thr405Arg) c.1265C>G (p.Thr422Arg) c.1169C>G (p.Thr390Arg) c.545C>G (p.Thr182Arg) c.1358C>G (p.Thr453Arg) c.1262C>G (p.Thr421Arg) c.8370+124090G>C (n.8370+124090G>C) | |
2 | g.108897136G= | CA1278354294 | EDAR,RANBP2 | c.1118C= (p.Thr373=) c.1214C= (p.Thr405=) c.1265C= (p.Thr422=) c.1169C= (p.Thr390=) c.545C= (p.Thr182=) c.1358C= (p.Thr453=) c.1262C= (p.Thr421=) c.8370+124090G= (n.8370+124090G=) | |
2 | g.108897136G>T | CA348048184 | EDAR,RANBP2 | c.1118C>A (p.Thr373Lys) c.1214C>A (p.Thr405Lys) c.1265C>A (p.Thr422Lys) c.1169C>A (p.Thr390Lys) c.545C>A (p.Thr182Lys) c.1358C>A (p.Thr453Lys) c.1262C>A (p.Thr421Lys) c.8370+124090G>T (n.8370+124090G>T) | |
2 | g.108897137T>A | CA348048185 | EDAR,RANBP2 | c.1117A>T (p.Thr373Ser) c.1213A>T (p.Thr405Ser) c.1264A>T (p.Thr422Ser) c.1168A>T (p.Thr390Ser) c.544A>T (p.Thr182Ser) c.1357A>T (p.Thr453Ser) c.1261A>T (p.Thr421Ser) c.8370+124091T>A (n.8370+124091T>A) | |
2 | g.108897137T>C | CA348048186 | EDAR,RANBP2 | c.1117A>G (p.Thr373Ala) c.1213A>G (p.Thr405Ala) c.1264A>G (p.Thr422Ala) c.1168A>G (p.Thr390Ala) c.544A>G (p.Thr182Ala) c.1357A>G (p.Thr453Ala) c.1261A>G (p.Thr421Ala) c.8370+124091T>C (n.8370+124091T>C) | |
2 | g.108897137T>G | CA348048187 | EDAR,RANBP2 | c.1117A>C (p.Thr373Pro) c.1213A>C (p.Thr405Pro) c.1264A>C (p.Thr422Pro) c.1168A>C (p.Thr390Pro) c.544A>C (p.Thr182Pro) c.1357A>C (p.Thr453Pro) c.1261A>C (p.Thr421Pro) c.8370+124091T>G (n.8370+124091T>G) | |
2 | g.108897138T>A | CA348048188 | EDAR,RANBP2 | c.1116A>T (p.Lys372Asn) c.1212A>T (p.Lys404Asn) c.1263A>T (p.Lys421Asn) c.1167A>T (p.Lys389Asn) c.543A>T (p.Lys181Asn) c.1356A>T (p.Lys452Asn) c.1260A>T (p.Lys420Asn) c.8370+124092T>A (n.8370+124092T>A) | |
2 | g.108897138T>C | CA428204170 | EDAR,RANBP2 | c.1116A>G (p.Lys372=) c.1212A>G (p.Lys404=) c.1263A>G (p.Lys421=) c.1167A>G (p.Lys389=) c.543A>G (p.Lys181=) c.1356A>G (p.Lys452=) c.1260A>G (p.Lys420=) c.8370+124092T>C (n.8370+124092T>C) | |
2 | g.108897138T>G | CA348048189 | EDAR,RANBP2 | c.1116A>C (p.Lys372Asn) c.1212A>C (p.Lys404Asn) c.1263A>C (p.Lys421Asn) c.1167A>C (p.Lys389Asn) c.543A>C (p.Lys181Asn) c.1356A>C (p.Lys452Asn) c.1260A>C (p.Lys420Asn) c.8370+124092T>G (n.8370+124092T>G) | |
2 | g.108897139T>A | CA348048190 | EDAR,RANBP2 | c.1115A>T (p.Lys372Ile) c.1211A>T (p.Lys404Ile) c.1262A>T (p.Lys421Ile) c.1166A>T (p.Lys389Ile) c.542A>T (p.Lys181Ile) c.1355A>T (p.Lys452Ile) c.1259A>T (p.Lys420Ile) c.8370+124093T>A (n.8370+124093T>A) | |
2 | g.108897139T>C | CA348048192 | EDAR,RANBP2 | c.1115A>G (p.Lys372Arg) c.1211A>G (p.Lys404Arg) c.1262A>G (p.Lys421Arg) c.1166A>G (p.Lys389Arg) c.542A>G (p.Lys181Arg) c.1355A>G (p.Lys452Arg) c.1259A>G (p.Lys420Arg) c.8370+124093T>C (n.8370+124093T>C) | |
2 | g.108897139T>G | CA348048191 | EDAR,RANBP2 | c.1115A>C (p.Lys372Thr) c.1211A>C (p.Lys404Thr) c.1262A>C (p.Lys421Thr) c.1166A>C (p.Lys389Thr) c.542A>C (p.Lys181Thr) c.1355A>C (p.Lys452Thr) c.1259A>C (p.Lys420Thr) c.8370+124093T>G (n.8370+124093T>G) | |
2 | g.108897140T>A | CA348048193 | EDAR,RANBP2 | c.1114A>T (p.Lys372Ter) c.1210A>T (p.Lys404Ter) c.1261A>T (p.Lys421Ter) c.1165A>T (p.Lys389Ter) c.541A>T (p.Lys181Ter) c.1354A>T (p.Lys452Ter) c.1258A>T (p.Lys420Ter) c.8370+124094T>A (n.8370+124094T>A) | |
2 | g.108897140T>C | CA348048194 | EDAR,RANBP2 | c.1114A>G (p.Lys372Glu) c.1210A>G (p.Lys404Glu) c.1261A>G (p.Lys421Glu) c.1165A>G (p.Lys389Glu) c.541A>G (p.Lys181Glu) c.1354A>G (p.Lys452Glu) c.1258A>G (p.Lys420Glu) c.8370+124094T>C (n.8370+124094T>C) | |
2 | g.108897140T>G | CA348048195 | EDAR,RANBP2 | c.1114A>C (p.Lys372Gln) c.1210A>C (p.Lys404Gln) c.1261A>C (p.Lys421Gln) c.1165A>C (p.Lys389Gln) c.541A>C (p.Lys181Gln) c.1354A>C (p.Lys452Gln) c.1258A>C (p.Lys420Gln) c.8370+124094T>G (n.8370+124094T>G) | COSMIC COSMIC |
2 | g.108897141C>A | CA428204174 | EDAR,RANBP2 | c.1113G>T (p.Val371=) c.1209G>T (p.Val403=) c.1260G>T (p.Val420=) c.1164G>T (p.Val388=) c.540G>T (p.Val180=) c.1353G>T (p.Val451=) c.1257G>T (p.Val419=) c.8370+124095C>A (n.8370+124095C>A) | |
2 | g.108897141C>G | CA428204175 | EDAR,RANBP2 | c.1113G>C (p.Val371=) c.1209G>C (p.Val403=) c.1260G>C (p.Val420=) c.1164G>C (p.Val388=) c.540G>C (p.Val180=) c.1353G>C (p.Val451=) c.1257G>C (p.Val419=) c.8370+124095C>G (n.8370+124095C>G) | |
2 | g.108897141C>T | CA428204176 | EDAR,RANBP2 | c.1113G>A (p.Val371=) c.1209G>A (p.Val403=) c.1260G>A (p.Val420=) c.1164G>A (p.Val388=) c.540G>A (p.Val180=) c.1353G>A (p.Val451=) c.1257G>A (p.Val419=) c.8370+124095C>T (n.8370+124095C>T) | COSMIC COSMIC |
2 | g.108897142A= | CA1278354295 | EDAR,RANBP2 | c.1112T= (p.Val371=) c.1208T= (p.Val403=) c.1259T= (p.Val420=) c.1163T= (p.Val388=) c.539T= (p.Val180=) c.1352T= (p.Val451=) c.1256T= (p.Val419=) c.8370+124096A= (n.8370+124096A=) | |
2 | g.108897142A>C | CA348048196 | EDAR,RANBP2 | c.1112T>G (p.Val371Gly) c.1208T>G (p.Val403Gly) c.1259T>G (p.Val420Gly) c.1163T>G (p.Val388Gly) c.539T>G (p.Val180Gly) c.1352T>G (p.Val451Gly) c.1256T>G (p.Val419Gly) c.8370+124096A>C (n.8370+124096A>C) | gnomAD v4 |
2 | g.108897142A>G | CA348048197 | EDAR,RANBP2 | c.1112T>C (p.Val371Ala) c.1208T>C (p.Val403Ala) c.1259T>C (p.Val420Ala) c.1163T>C (p.Val388Ala) c.539T>C (p.Val180Ala) c.1352T>C (p.Val451Ala) c.1256T>C (p.Val419Ala) c.8370+124096A>G (n.8370+124096A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897142A>T | CA348048198 | EDAR,RANBP2 | c.1112T>A (p.Val371Glu) c.1208T>A (p.Val403Glu) c.1259T>A (p.Val420Glu) c.1163T>A (p.Val388Glu) c.539T>A (p.Val180Glu) c.1352T>A (p.Val451Glu) c.1256T>A (p.Val419Glu) c.8370+124096A>T (n.8370+124096A>T) | |
2 | g.108897143C>A | CA348048199 | EDAR,RANBP2 | c.1111G>T (p.Val371Leu) c.1207G>T (p.Val403Leu) c.1258G>T (p.Val420Leu) c.1162G>T (p.Val388Leu) c.538G>T (p.Val180Leu) c.1351G>T (p.Val451Leu) c.1255G>T (p.Val419Leu) c.8370+124097C>A (n.8370+124097C>A) | |
2 | g.108897143C>G | CA348048200 | EDAR,RANBP2 | c.1111G>C (p.Val371Leu) c.1207G>C (p.Val403Leu) c.1258G>C (p.Val420Leu) c.1162G>C (p.Val388Leu) c.538G>C (p.Val180Leu) c.1351G>C (p.Val451Leu) c.1255G>C (p.Val419Leu) c.8370+124097C>G (n.8370+124097C>G) | |
2 | g.108897143C>T | CA348048201 | EDAR,RANBP2 | c.1111G>A (p.Val371Met) c.1207G>A (p.Val403Met) c.1258G>A (p.Val420Met) c.1162G>A (p.Val388Met) c.538G>A (p.Val180Met) c.1351G>A (p.Val451Met) c.1255G>A (p.Val419Met) c.8370+124097C>T (n.8370+124097C>T) | |
2 | g.108897144A>C | CA428204182 | EDAR,RANBP2 | c.1110T>G (p.Val370=) c.1206T>G (p.Val402=) c.1257T>G (p.Val419=) c.1161T>G (p.Val387=) c.537T>G (p.Val179=) c.1350T>G (p.Val450=) c.1254T>G (p.Val418=) c.8370+124098A>C (n.8370+124098A>C) | |
2 | g.108897144A>G | CA428204178 | EDAR,RANBP2 | c.1110T>C (p.Val370=) c.1206T>C (p.Val402=) c.1257T>C (p.Val419=) c.1161T>C (p.Val387=) c.537T>C (p.Val179=) c.1350T>C (p.Val450=) c.1254T>C (p.Val418=) c.8370+124098A>G (n.8370+124098A>G) | |
2 | g.108897144A>T | CA428204180 | EDAR,RANBP2 | c.1110T>A (p.Val370=) c.1206T>A (p.Val402=) c.1257T>A (p.Val419=) c.1161T>A (p.Val387=) c.537T>A (p.Val179=) c.1350T>A (p.Val450=) c.1254T>A (p.Val418=) c.8370+124098A>T (n.8370+124098A>T) | |
2 | g.108897145A= | CA1278354296 | EDAR,RANBP2 | c.1109T= (p.Val370=) c.1205T= (p.Val402=) c.1256T= (p.Val419=) c.1160T= (p.Val387=) c.536T= (p.Val179=) c.1349T= (p.Val450=) c.1253T= (p.Val418=) c.8370+124099A= (n.8370+124099A=) | |
2 | g.108897145A>C | CA348048202 | EDAR,RANBP2 | c.1109T>G (p.Val370Gly) c.1205T>G (p.Val402Gly) c.1256T>G (p.Val419Gly) c.1160T>G (p.Val387Gly) c.536T>G (p.Val179Gly) c.1349T>G (p.Val450Gly) c.1253T>G (p.Val418Gly) c.8370+124099A>C (n.8370+124099A>C) | dbSNP |
2 | g.108897145A>G | CA117813 | EDAR,RANBP2 | c.1109T>C (p.Val370Ala) c.1205T>C (p.Val402Ala) c.1256T>C (p.Val419Ala) c.1160T>C (p.Val387Ala) c.536T>C (p.Val179Ala) c.1349T>C (p.Val450Ala) c.1253T>C (p.Val418Ala) c.8370+124099A>G (n.8370+124099A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897145A>T | CA348048203 | EDAR,RANBP2 | c.1109T>A (p.Val370Asp) c.1205T>A (p.Val402Asp) c.1256T>A (p.Val419Asp) c.1160T>A (p.Val387Asp) c.536T>A (p.Val179Asp) c.1349T>A (p.Val450Asp) c.1253T>A (p.Val418Asp) c.8370+124099A>T (n.8370+124099A>T) | |
2 | g.108897146C>A | CA348048206 | EDAR,RANBP2 | c.1108G>T (p.Val370Phe) c.1204G>T (p.Val402Phe) c.1255G>T (p.Val419Phe) c.1159G>T (p.Val387Phe) c.535G>T (p.Val179Phe) c.1348G>T (p.Val450Phe) c.1252G>T (p.Val418Phe) c.8370+124100C>A (n.8370+124100C>A) | |
2 | g.108897146C= | CA1278354297 | EDAR,RANBP2 | c.1108G= (p.Val370=) c.1204G= (p.Val402=) c.1255G= (p.Val419=) c.1159G= (p.Val387=) c.535G= (p.Val179=) c.1348G= (p.Val450=) c.1252G= (p.Val418=) c.8370+124100C= (n.8370+124100C=) | |
2 | g.108897146C>G | CA348048205 | EDAR,RANBP2 | c.1108G>C (p.Val370Leu) c.1204G>C (p.Val402Leu) c.1255G>C (p.Val419Leu) c.1159G>C (p.Val387Leu) c.535G>C (p.Val179Leu) c.1348G>C (p.Val450Leu) c.1252G>C (p.Val418Leu) c.8370+124100C>G (n.8370+124100C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897146C>T | CA348048204 | EDAR,RANBP2 | c.1108G>A (p.Val370Ile) c.1204G>A (p.Val402Ile) c.1255G>A (p.Val419Ile) c.1159G>A (p.Val387Ile) c.535G>A (p.Val179Ile) c.1348G>A (p.Val450Ile) c.1252G>A (p.Val418Ile) c.8370+124100C>T (n.8370+124100C>T) | |
2 | g.108897147A= | CA1278354298 | EDAR,RANBP2 | c.1107T= (p.Ala369=) c.1203T= (p.Ala401=) c.1254T= (p.Ala418=) c.1158T= (p.Ala386=) c.534T= (p.Ala178=) c.1347T= (p.Ala449=) c.1251T= (p.Ala417=) c.8370+124101A= (n.8370+124101A=) | |
2 | g.108897147A>C | CA428204187 | EDAR,RANBP2 | c.1107T>G (p.Ala369=) c.1203T>G (p.Ala401=) c.1254T>G (p.Ala418=) c.1158T>G (p.Ala386=) c.534T>G (p.Ala178=) c.1347T>G (p.Ala449=) c.1251T>G (p.Ala417=) c.8370+124101A>C (n.8370+124101A>C) | |
2 | g.108897147A>G | CA428204188 | EDAR,RANBP2 | c.1107T>C (p.Ala369=) c.1203T>C (p.Ala401=) c.1254T>C (p.Ala418=) c.1158T>C (p.Ala386=) c.534T>C (p.Ala178=) c.1347T>C (p.Ala449=) c.1251T>C (p.Ala417=) c.8370+124101A>G (n.8370+124101A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897147A>T | CA428204189 | EDAR,RANBP2 | c.1107T>A (p.Ala369=) c.1203T>A (p.Ala401=) c.1254T>A (p.Ala418=) c.1158T>A (p.Ala386=) c.534T>A (p.Ala178=) c.1347T>A (p.Ala449=) c.1251T>A (p.Ala417=) c.8370+124101A>T (n.8370+124101A>T) | |
2 | g.108897148G>A | CA348048207 | EDAR,RANBP2 | c.1106C>T (p.Ala369Val) c.1202C>T (p.Ala401Val) c.1253C>T (p.Ala418Val) c.1157C>T (p.Ala386Val) c.533C>T (p.Ala178Val) c.1346C>T (p.Ala449Val) c.1250C>T (p.Ala417Val) c.8370+124102G>A (n.8370+124102G>A) | |
2 | g.108897148G>C | CA348048208 | EDAR,RANBP2 | c.1106C>G (p.Ala369Gly) c.1202C>G (p.Ala401Gly) c.1253C>G (p.Ala418Gly) c.1157C>G (p.Ala386Gly) c.533C>G (p.Ala178Gly) c.1346C>G (p.Ala449Gly) c.1250C>G (p.Ala417Gly) c.8370+124102G>C (n.8370+124102G>C) | |
2 | g.108897148G>T | CA348048209 | EDAR,RANBP2 | c.1106C>A (p.Ala369Asp) c.1202C>A (p.Ala401Asp) c.1253C>A (p.Ala418Asp) c.1157C>A (p.Ala386Asp) c.533C>A (p.Ala178Asp) c.1346C>A (p.Ala449Asp) c.1250C>A (p.Ala417Asp) c.8370+124102G>T (n.8370+124102G>T) | |
2 | g.108897149C>A | CA348048210 | EDAR,RANBP2 | c.1105G>T (p.Ala369Ser) c.1201G>T (p.Ala401Ser) c.1252G>T (p.Ala418Ser) c.1156G>T (p.Ala386Ser) c.532G>T (p.Ala178Ser) c.1345G>T (p.Ala449Ser) c.1249G>T (p.Ala417Ser) c.8370+124103C>A (n.8370+124103C>A) | gnomAD v4 |
2 | g.108897149C= | CA1278354299 | EDAR,RANBP2 | c.1105G= (p.Ala369=) c.1201G= (p.Ala401=) c.1252G= (p.Ala418=) c.1156G= (p.Ala386=) c.532G= (p.Ala178=) c.1345G= (p.Ala449=) c.1249G= (p.Ala417=) c.8370+124103C= (n.8370+124103C=) | |
2 | g.108897149C>G | CA1824816 | EDAR,RANBP2 | c.1105G>C (p.Ala369Pro) c.1201G>C (p.Ala401Pro) c.1252G>C (p.Ala418Pro) c.1156G>C (p.Ala386Pro) c.532G>C (p.Ala178Pro) c.1345G>C (p.Ala449Pro) c.1249G>C (p.Ala417Pro) c.8370+124103C>G (n.8370+124103C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897149C>T | CA348048212 | EDAR,RANBP2 | c.1105G>A (p.Ala369Thr) c.1201G>A (p.Ala401Thr) c.1252G>A (p.Ala418Thr) c.1156G>A (p.Ala386Thr) c.532G>A (p.Ala178Thr) c.1345G>A (p.Ala449Thr) c.1249G>A (p.Ala417Thr) c.8370+124103C>T (n.8370+124103C>T) | gnomAD v4 |
2 | g.108897150C>A | CA348048214 | EDAR,RANBP2 | c.1104G>T (p.Lys368Asn) c.1200G>T (p.Lys400Asn) c.1251G>T (p.Lys417Asn) c.1155G>T (p.Lys385Asn) c.531G>T (p.Lys177Asn) c.1344G>T (p.Lys448Asn) c.1248G>T (p.Lys416Asn) c.8370+124104C>A (n.8370+124104C>A) | |
2 | g.108897150C= | CA1278354300 | EDAR,RANBP2 | c.1104G= (p.Lys368=) c.1200G= (p.Lys400=) c.1251G= (p.Lys417=) c.1155G= (p.Lys385=) c.531G= (p.Lys177=) c.1344G= (p.Lys448=) c.1248G= (p.Lys416=) c.8370+124104C= (n.8370+124104C=) | |
2 | g.108897150C>G | CA348048216 | EDAR,RANBP2 | c.1104G>C (p.Lys368Asn) c.1200G>C (p.Lys400Asn) c.1251G>C (p.Lys417Asn) c.1155G>C (p.Lys385Asn) c.531G>C (p.Lys177Asn) c.1344G>C (p.Lys448Asn) c.1248G>C (p.Lys416Asn) c.8370+124104C>G (n.8370+124104C>G) | |
2 | g.108897150C>T | CA1824817 | EDAR,RANBP2 | c.1104G>A (p.Lys368=) c.1200G>A (p.Lys400=) c.1251G>A (p.Lys417=) c.1155G>A (p.Lys385=) c.531G>A (p.Lys177=) c.1344G>A (p.Lys448=) c.1248G>A (p.Lys416=) c.8370+124104C>T (n.8370+124104C>T) | dbSNP ExAC |