| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |