| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897045C>A | CA428204033 | EDAR,RANBP2 | c.1209G>T (p.Thr403=) c.1305G>T (p.Thr435=) c.1356G>T (p.Thr452=) c.1260G>T (p.Thr420=) c.636G>T (p.Thr212=) c.1449G>T (p.Thr483=) c.1353G>T (p.Thr451=) c.8370+123999C>A (n.8370+123999C>A) | |
| 2 | g.108897045C= | CA1278354246 | EDAR,RANBP2 | c.1209G= (p.Thr403=) c.1305G= (p.Thr435=) c.1356G= (p.Thr452=) c.1260G= (p.Thr420=) c.636G= (p.Thr212=) c.1449G= (p.Thr483=) c.1353G= (p.Thr451=) c.8370+123999C= (n.8370+123999C=) | |
| 2 | g.108897045C>G | CA428204034 | EDAR,RANBP2 | c.1209G>C (p.Thr403=) c.1305G>C (p.Thr435=) c.1356G>C (p.Thr452=) c.1260G>C (p.Thr420=) c.636G>C (p.Thr212=) c.1449G>C (p.Thr483=) c.1353G>C (p.Thr451=) c.8370+123999C>G (n.8370+123999C>G) | gnomAD v4 |
| 2 | g.108897045C>T | CA1824799 | EDAR,RANBP2 | c.1209G>A (p.Thr403=) c.1305G>A (p.Thr435=) c.1356G>A (p.Thr452=) c.1260G>A (p.Thr420=) c.636G>A (p.Thr212=) c.1449G>A (p.Thr483=) c.1353G>A (p.Thr451=) c.8370+123999C>T (n.8370+123999C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108897046G>A | CA348047975 | EDAR,RANBP2 | c.1208C>T (p.Thr403Met) c.1304C>T (p.Thr435Met) c.1355C>T (p.Thr452Met) c.1259C>T (p.Thr420Met) c.635C>T (p.Thr212Met) c.1448C>T (p.Thr483Met) c.1352C>T (p.Thr451Met) c.8370+124000G>A (n.8370+124000G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.108897046G>C | CA348047979 | EDAR,RANBP2 | c.1208C>G (p.Thr403Arg) c.1304C>G (p.Thr435Arg) c.1355C>G (p.Thr452Arg) c.1259C>G (p.Thr420Arg) c.635C>G (p.Thr212Arg) c.1448C>G (p.Thr483Arg) c.1352C>G (p.Thr451Arg) c.8370+124000G>C (n.8370+124000G>C) | ClinVar |
| 2 | g.108897046G= | CA1278354247 | EDAR,RANBP2 | c.1208C= (p.Thr403=) c.1304C= (p.Thr435=) c.1355C= (p.Thr452=) c.1259C= (p.Thr420=) c.635C= (p.Thr212=) c.1448C= (p.Thr483=) c.1352C= (p.Thr451=) c.8370+124000G= (n.8370+124000G=) | |
| 2 | g.108897046G>T | CA348047977 | EDAR,RANBP2 | c.1208C>A (p.Thr403Lys) c.1304C>A (p.Thr435Lys) c.1355C>A (p.Thr452Lys) c.1259C>A (p.Thr420Lys) c.635C>A (p.Thr212Lys) c.1448C>A (p.Thr483Lys) c.1352C>A (p.Thr451Lys) c.8370+124000G>T (n.8370+124000G>T) | |
| 2 | g.108897047T>A | CA348047982 | EDAR,RANBP2 | c.1207A>T (p.Thr403Ser) c.1303A>T (p.Thr435Ser) c.1354A>T (p.Thr452Ser) c.1258A>T (p.Thr420Ser) c.634A>T (p.Thr212Ser) c.1447A>T (p.Thr483Ser) c.1351A>T (p.Thr451Ser) c.8370+124001T>A (n.8370+124001T>A) | |
| 2 | g.108897047T>C | CA348047984 | EDAR,RANBP2 | c.1207A>G (p.Thr403Ala) c.1303A>G (p.Thr435Ala) c.1354A>G (p.Thr452Ala) c.1258A>G (p.Thr420Ala) c.634A>G (p.Thr212Ala) c.1447A>G (p.Thr483Ala) c.1351A>G (p.Thr451Ala) c.8370+124001T>C (n.8370+124001T>C) | |
| 2 | g.108897047T>G | CA348047986 | EDAR,RANBP2 | c.1207A>C (p.Thr403Pro) c.1303A>C (p.Thr435Pro) c.1354A>C (p.Thr452Pro) c.1258A>C (p.Thr420Pro) c.634A>C (p.Thr212Pro) c.1447A>C (p.Thr483Pro) c.1351A>C (p.Thr451Pro) c.8370+124001T>G (n.8370+124001T>G) | |
| 2 | g.108897048G>A | CA428204043 | EDAR,RANBP2 | c.1206C>T (p.Ser402=) c.1302C>T (p.Ser434=) c.1353C>T (p.Ser451=) c.1257C>T (p.Ser419=) c.633C>T (p.Ser211=) c.1446C>T (p.Ser482=) c.1350C>T (p.Ser450=) c.8370+124002G>A (n.8370+124002G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897048G>C | CA348047987 | EDAR,RANBP2 | c.1206C>G (p.Ser402Arg) c.1302C>G (p.Ser434Arg) c.1353C>G (p.Ser451Arg) c.1257C>G (p.Ser419Arg) c.633C>G (p.Ser211Arg) c.1446C>G (p.Ser482Arg) c.1350C>G (p.Ser450Arg) c.8370+124002G>C (n.8370+124002G>C) | |
| 2 | g.108897048G= | CA1278354248 | EDAR,RANBP2 | c.1206C= (p.Ser402=) c.1302C= (p.Ser434=) c.1353C= (p.Ser451=) c.1257C= (p.Ser419=) c.633C= (p.Ser211=) c.1446C= (p.Ser482=) c.1350C= (p.Ser450=) c.8370+124002G= (n.8370+124002G=) | |
| 2 | g.108897048G>T | CA348047989 | EDAR,RANBP2 | c.1206C>A (p.Ser402Arg) c.1302C>A (p.Ser434Arg) c.1353C>A (p.Ser451Arg) c.1257C>A (p.Ser419Arg) c.633C>A (p.Ser211Arg) c.1446C>A (p.Ser482Arg) c.1350C>A (p.Ser450Arg) c.8370+124002G>T (n.8370+124002G>T) | |
| 2 | g.108897049C>A | CA348047991 | EDAR,RANBP2 | c.1205G>T (p.Ser402Ile) c.1301G>T (p.Ser434Ile) c.1352G>T (p.Ser451Ile) c.1256G>T (p.Ser419Ile) c.632G>T (p.Ser211Ile) c.1445G>T (p.Ser482Ile) c.1349G>T (p.Ser450Ile) c.8370+124003C>A (n.8370+124003C>A) | |
| 2 | g.108897049C= | CA1278354249 | EDAR,RANBP2 | c.1205G= (p.Ser402=) c.1301G= (p.Ser434=) c.1352G= (p.Ser451=) c.1256G= (p.Ser419=) c.632G= (p.Ser211=) c.1445G= (p.Ser482=) c.1349G= (p.Ser450=) c.8370+124003C= (n.8370+124003C=) | |
| 2 | g.108897049C>G | CA348047993 | EDAR,RANBP2 | c.1205G>C (p.Ser402Thr) c.1301G>C (p.Ser434Thr) c.1352G>C (p.Ser451Thr) c.1256G>C (p.Ser419Thr) c.632G>C (p.Ser211Thr) c.1445G>C (p.Ser482Thr) c.1349G>C (p.Ser450Thr) c.8370+124003C>G (n.8370+124003C>G) | |
| 2 | g.108897049C>T | CA348047994 | EDAR,RANBP2 | c.1205G>A (p.Ser402Asn) c.1301G>A (p.Ser434Asn) c.1352G>A (p.Ser451Asn) c.1256G>A (p.Ser419Asn) c.632G>A (p.Ser211Asn) c.1445G>A (p.Ser482Asn) c.1349G>A (p.Ser450Asn) c.8370+124003C>T (n.8370+124003C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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) | dbSNP gnomAD v2 gnomAD v4 |