| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897010A>C | CA348047813 | EDAR,RANBP2 | c.1244T>G (p.Leu415Arg) c.1340T>G (p.Leu447Arg) c.1391T>G (p.Leu464Arg) c.1295T>G (p.Leu432Arg) c.671T>G (p.Leu224Arg) c.1484T>G (p.Leu495Arg) c.1388T>G (p.Leu463Arg) c.8370+123964A>C (n.8370+123964A>C) | |
| 2 | g.108897010A>G | CA348047817 | EDAR,RANBP2 | c.1244T>C (p.Leu415Pro) c.1340T>C (p.Leu447Pro) c.1391T>C (p.Leu464Pro) c.1295T>C (p.Leu432Pro) c.671T>C (p.Leu224Pro) c.1484T>C (p.Leu495Pro) c.1388T>C (p.Leu463Pro) c.8370+123964A>G (n.8370+123964A>G) | |
| 2 | g.108897010A>T | CA348047815 | EDAR,RANBP2 | c.1244T>A (p.Leu415Gln) c.1340T>A (p.Leu447Gln) c.1391T>A (p.Leu464Gln) c.1295T>A (p.Leu432Gln) c.671T>A (p.Leu224Gln) c.1484T>A (p.Leu495Gln) c.1388T>A (p.Leu463Gln) c.8370+123964A>T (n.8370+123964A>T) | |
| 2 | g.108897011G>A | CA428203956 | EDAR,RANBP2 | c.1243C>T (p.Leu415=) c.1339C>T (p.Leu447=) c.1390C>T (p.Leu464=) c.1294C>T (p.Leu432=) c.670C>T (p.Leu224=) c.1483C>T (p.Leu495=) c.1387C>T (p.Leu463=) c.8370+123965G>A (n.8370+123965G>A) | |
| 2 | g.108897011G>C | CA348047819 | EDAR,RANBP2 | c.1243C>G (p.Leu415Val) c.1339C>G (p.Leu447Val) c.1390C>G (p.Leu464Val) c.1294C>G (p.Leu432Val) c.670C>G (p.Leu224Val) c.1483C>G (p.Leu495Val) c.1387C>G (p.Leu463Val) c.8370+123965G>C (n.8370+123965G>C) | |
| 2 | g.108897011G>T | CA348047821 | EDAR,RANBP2 | c.1243C>A (p.Leu415Met) c.1339C>A (p.Leu447Met) c.1390C>A (p.Leu464Met) c.1294C>A (p.Leu432Met) c.670C>A (p.Leu224Met) c.1483C>A (p.Leu495Met) c.1387C>A (p.Leu463Met) c.8370+123965G>T (n.8370+123965G>T) | |
| 2 | g.108897012T>A | CA348047822 | EDAR,RANBP2 | c.1242A>T (p.Lys414Asn) c.1338A>T (p.Lys446Asn) c.1389A>T (p.Lys463Asn) c.1293A>T (p.Lys431Asn) c.669A>T (p.Lys223Asn) c.1482A>T (p.Lys494Asn) c.1386A>T (p.Lys462Asn) c.8370+123966T>A (n.8370+123966T>A) | |
| 2 | g.108897012T>C | CA428203957 | EDAR,RANBP2 | c.1242A>G (p.Lys414=) c.1338A>G (p.Lys446=) c.1389A>G (p.Lys463=) c.1293A>G (p.Lys431=) c.669A>G (p.Lys223=) c.1482A>G (p.Lys494=) c.1386A>G (p.Lys462=) c.8370+123966T>C (n.8370+123966T>C) | |
| 2 | g.108897012T>G | CA348047823 | EDAR,RANBP2 | c.1242A>C (p.Lys414Asn) c.1338A>C (p.Lys446Asn) c.1389A>C (p.Lys463Asn) c.1293A>C (p.Lys431Asn) c.669A>C (p.Lys223Asn) c.1482A>C (p.Lys494Asn) c.1386A>C (p.Lys462Asn) c.8370+123966T>G (n.8370+123966T>G) | |
| 2 | g.108897013T>A | CA348047826 | EDAR,RANBP2 | c.1241A>T (p.Lys414Ile) c.1337A>T (p.Lys446Ile) c.1388A>T (p.Lys463Ile) c.1292A>T (p.Lys431Ile) c.668A>T (p.Lys223Ile) c.1481A>T (p.Lys494Ile) c.1385A>T (p.Lys462Ile) c.8370+123967T>A (n.8370+123967T>A) | |
| 2 | g.108897013T>C | CA348047828 | EDAR,RANBP2 | c.1241A>G (p.Lys414Arg) c.1337A>G (p.Lys446Arg) c.1388A>G (p.Lys463Arg) c.1292A>G (p.Lys431Arg) c.668A>G (p.Lys223Arg) c.1481A>G (p.Lys494Arg) c.1385A>G (p.Lys462Arg) c.8370+123967T>C (n.8370+123967T>C) | |
| 2 | g.108897013T>G | CA348047830 | EDAR,RANBP2 | c.1241A>C (p.Lys414Thr) c.1337A>C (p.Lys446Thr) c.1388A>C (p.Lys463Thr) c.1292A>C (p.Lys431Thr) c.668A>C (p.Lys223Thr) c.1481A>C (p.Lys494Thr) c.1385A>C (p.Lys462Thr) c.8370+123967T>G (n.8370+123967T>G) | |
| 2 | g.108897014T>A | CA348047832 | EDAR,RANBP2 | c.1240A>T (p.Lys414Ter) c.1336A>T (p.Lys446Ter) c.1387A>T (p.Lys463Ter) c.1291A>T (p.Lys431Ter) c.667A>T (p.Lys223Ter) c.1480A>T (p.Lys494Ter) c.1384A>T (p.Lys462Ter) c.8370+123968T>A (n.8370+123968T>A) | |
| 2 | g.108897014T>C | CA348047834 | EDAR,RANBP2 | c.1240A>G (p.Lys414Glu) c.1336A>G (p.Lys446Glu) c.1387A>G (p.Lys463Glu) c.1291A>G (p.Lys431Glu) c.667A>G (p.Lys223Glu) c.1480A>G (p.Lys494Glu) c.1384A>G (p.Lys462Glu) c.8370+123968T>C (n.8370+123968T>C) | |
| 2 | g.108897014T>G | CA348047836 | EDAR,RANBP2 | c.1240A>C (p.Lys414Gln) c.1336A>C (p.Lys446Gln) c.1387A>C (p.Lys463Gln) c.1291A>C (p.Lys431Gln) c.667A>C (p.Lys223Gln) c.1480A>C (p.Lys494Gln) c.1384A>C (p.Lys462Gln) c.8370+123968T>G (n.8370+123968T>G) | |
| 2 | g.108897015T>A | CA428203958 | EDAR,RANBP2 | c.1239A>T (p.Thr413=) c.1335A>T (p.Thr445=) c.1386A>T (p.Thr462=) c.1290A>T (p.Thr430=) c.666A>T (p.Thr222=) c.1479A>T (p.Thr493=) c.1383A>T (p.Thr461=) c.8370+123969T>A (n.8370+123969T>A) | |
| 2 | g.108897015T>C | CA428203959 | EDAR,RANBP2 | c.1239A>G (p.Thr413=) c.1335A>G (p.Thr445=) c.1386A>G (p.Thr462=) c.1290A>G (p.Thr430=) c.666A>G (p.Thr222=) c.1479A>G (p.Thr493=) c.1383A>G (p.Thr461=) c.8370+123969T>C (n.8370+123969T>C) | |
| 2 | g.108897015T>G | CA428203960 | EDAR,RANBP2 | c.1239A>C (p.Thr413=) c.1335A>C (p.Thr445=) c.1386A>C (p.Thr462=) c.1290A>C (p.Thr430=) c.666A>C (p.Thr222=) c.1479A>C (p.Thr493=) c.1383A>C (p.Thr461=) c.8370+123969T>G (n.8370+123969T>G) | |
| 2 | g.108897016G>A | CA348047842 | EDAR,RANBP2 | c.1238C>T (p.Thr413Ile) c.1334C>T (p.Thr445Ile) c.1385C>T (p.Thr462Ile) c.1289C>T (p.Thr430Ile) c.665C>T (p.Thr222Ile) c.1478C>T (p.Thr493Ile) c.1382C>T (p.Thr461Ile) c.8370+123970G>A (n.8370+123970G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108897016G>C | CA348047841 | EDAR,RANBP2 | c.1238C>G (p.Thr413Arg) c.1334C>G (p.Thr445Arg) c.1385C>G (p.Thr462Arg) c.1289C>G (p.Thr430Arg) c.665C>G (p.Thr222Arg) c.1478C>G (p.Thr493Arg) c.1382C>G (p.Thr461Arg) c.8370+123970G>C (n.8370+123970G>C) | |
| 2 | g.108897016G= | CA1278354238 | EDAR,RANBP2 | c.1238C= (p.Thr413=) c.1334C= (p.Thr445=) c.1385C= (p.Thr462=) c.1289C= (p.Thr430=) c.665C= (p.Thr222=) c.1478C= (p.Thr493=) c.1382C= (p.Thr461=) c.8370+123970G= (n.8370+123970G=) | |
| 2 | g.108897016G>T | CA348047839 | EDAR,RANBP2 | c.1238C>A (p.Thr413Lys) c.1334C>A (p.Thr445Lys) c.1385C>A (p.Thr462Lys) c.1289C>A (p.Thr430Lys) c.665C>A (p.Thr222Lys) c.1478C>A (p.Thr493Lys) c.1382C>A (p.Thr461Lys) c.8370+123970G>T (n.8370+123970G>T) | gnomAD v4 |
| 2 | g.108897017T>A | CA348047844 | EDAR,RANBP2 | c.1237A>T (p.Thr413Ser) c.1333A>T (p.Thr445Ser) c.1384A>T (p.Thr462Ser) c.1288A>T (p.Thr430Ser) c.664A>T (p.Thr222Ser) c.1477A>T (p.Thr493Ser) c.1381A>T (p.Thr461Ser) c.8370+123971T>A (n.8370+123971T>A) | |
| 2 | g.108897017T>C | CA348047848 | EDAR,RANBP2 | c.1237A>G (p.Thr413Ala) c.1333A>G (p.Thr445Ala) c.1384A>G (p.Thr462Ala) c.1288A>G (p.Thr430Ala) c.664A>G (p.Thr222Ala) c.1477A>G (p.Thr493Ala) c.1381A>G (p.Thr461Ala) c.8370+123971T>C (n.8370+123971T>C) | |
| 2 | g.108897017T>G | CA348047846 | EDAR,RANBP2 | c.1237A>C (p.Thr413Pro) c.1333A>C (p.Thr445Pro) c.1384A>C (p.Thr462Pro) c.1288A>C (p.Thr430Pro) c.664A>C (p.Thr222Pro) c.1477A>C (p.Thr493Pro) c.1381A>C (p.Thr461Pro) c.8370+123971T>G (n.8370+123971T>G) | |
| 2 | g.108897018G>A | CA428203962 | EDAR,RANBP2 | c.1236C>T (p.Leu412=) c.1332C>T (p.Leu444=) c.1383C>T (p.Leu461=) c.1287C>T (p.Leu429=) c.663C>T (p.Leu221=) c.1476C>T (p.Leu492=) c.1380C>T (p.Leu460=) c.8370+123972G>A (n.8370+123972G>A) | gnomAD v4 COSMIC COSMIC |
| 2 | g.108897018G>C | CA428203964 | EDAR,RANBP2 | c.1236C>G (p.Leu412=) c.1332C>G (p.Leu444=) c.1383C>G (p.Leu461=) c.1287C>G (p.Leu429=) c.663C>G (p.Leu221=) c.1476C>G (p.Leu492=) c.1380C>G (p.Leu460=) c.8370+123972G>C (n.8370+123972G>C) | |
| 2 | g.108897018G>T | CA428203963 | EDAR,RANBP2 | c.1236C>A (p.Leu412=) c.1332C>A (p.Leu444=) c.1383C>A (p.Leu461=) c.1287C>A (p.Leu429=) c.663C>A (p.Leu221=) c.1476C>A (p.Leu492=) c.1380C>A (p.Leu460=) c.8370+123972G>T (n.8370+123972G>T) | gnomAD v4 |
| 2 | g.108897019A>C | CA348047851 | EDAR,RANBP2 | c.1235T>G (p.Leu412Arg) c.1331T>G (p.Leu444Arg) c.1382T>G (p.Leu461Arg) c.1286T>G (p.Leu429Arg) c.662T>G (p.Leu221Arg) c.1475T>G (p.Leu492Arg) c.1379T>G (p.Leu460Arg) c.8370+123973A>C (n.8370+123973A>C) | |
| 2 | g.108897019A>G | CA348047854 | EDAR,RANBP2 | c.1235T>C (p.Leu412Pro) c.1331T>C (p.Leu444Pro) c.1382T>C (p.Leu461Pro) c.1286T>C (p.Leu429Pro) c.662T>C (p.Leu221Pro) c.1475T>C (p.Leu492Pro) c.1379T>C (p.Leu460Pro) c.8370+123973A>G (n.8370+123973A>G) | |
| 2 | g.108897019A>T | CA348047852 | EDAR,RANBP2 | c.1235T>A (p.Leu412His) c.1331T>A (p.Leu444His) c.1382T>A (p.Leu461His) c.1286T>A (p.Leu429His) c.662T>A (p.Leu221His) c.1475T>A (p.Leu492His) c.1379T>A (p.Leu460His) c.8370+123973A>T (n.8370+123973A>T) | |
| 2 | g.108897020G>A | CA348047857 | EDAR,RANBP2 | c.1234C>T (p.Leu412Phe) c.1330C>T (p.Leu444Phe) c.1381C>T (p.Leu461Phe) c.1285C>T (p.Leu429Phe) c.661C>T (p.Leu221Phe) c.1474C>T (p.Leu492Phe) c.1378C>T (p.Leu460Phe) c.8370+123974G>A (n.8370+123974G>A) | |
| 2 | g.108897020G>C | CA348047859 | EDAR,RANBP2 | c.1234C>G (p.Leu412Val) c.1330C>G (p.Leu444Val) c.1381C>G (p.Leu461Val) c.1285C>G (p.Leu429Val) c.661C>G (p.Leu221Val) c.1474C>G (p.Leu492Val) c.1378C>G (p.Leu460Val) c.8370+123974G>C (n.8370+123974G>C) | gnomAD v4 |
| 2 | g.108897020G>T | CA348047861 | EDAR,RANBP2 | c.1234C>A (p.Leu412Ile) c.1330C>A (p.Leu444Ile) c.1381C>A (p.Leu461Ile) c.1285C>A (p.Leu429Ile) c.661C>A (p.Leu221Ile) c.1474C>A (p.Leu492Ile) c.1378C>A (p.Leu460Ile) c.8370+123974G>T (n.8370+123974G>T) | |
| 2 | g.108897021T>A | CA428203966 | EDAR,RANBP2 | c.1233A>T (p.Leu411=) c.1329A>T (p.Leu443=) c.1380A>T (p.Leu460=) c.1284A>T (p.Leu428=) c.660A>T (p.Leu220=) c.1473A>T (p.Leu491=) c.1377A>T (p.Leu459=) c.8370+123975T>A (n.8370+123975T>A) | |
| 2 | g.108897021T>C | CA428203967 | EDAR,RANBP2 | c.1233A>G (p.Leu411=) c.1329A>G (p.Leu443=) c.1380A>G (p.Leu460=) c.1284A>G (p.Leu428=) c.660A>G (p.Leu220=) c.1473A>G (p.Leu491=) c.1377A>G (p.Leu459=) c.8370+123975T>C (n.8370+123975T>C) | |
| 2 | g.108897021T>G | CA428203969 | EDAR,RANBP2 | c.1233A>C (p.Leu411=) c.1329A>C (p.Leu443=) c.1380A>C (p.Leu460=) c.1284A>C (p.Leu428=) c.660A>C (p.Leu220=) c.1473A>C (p.Leu491=) c.1377A>C (p.Leu459=) c.8370+123975T>G (n.8370+123975T>G) | |
| 2 | g.108897022A>C | CA348047864 | EDAR,RANBP2 | c.1232T>G (p.Leu411Arg) c.1328T>G (p.Leu443Arg) c.1379T>G (p.Leu460Arg) c.1283T>G (p.Leu428Arg) c.659T>G (p.Leu220Arg) c.1472T>G (p.Leu491Arg) c.1376T>G (p.Leu459Arg) c.8370+123976A>C (n.8370+123976A>C) | |
| 2 | g.108897022A>G | CA348047866 | EDAR,RANBP2 | c.1232T>C (p.Leu411Pro) c.1328T>C (p.Leu443Pro) c.1379T>C (p.Leu460Pro) c.1283T>C (p.Leu428Pro) c.659T>C (p.Leu220Pro) c.1472T>C (p.Leu491Pro) c.1376T>C (p.Leu459Pro) c.8370+123976A>G (n.8370+123976A>G) | |
| 2 | g.108897022A>T | CA348047867 | EDAR,RANBP2 | c.1232T>A (p.Leu411Gln) c.1328T>A (p.Leu443Gln) c.1379T>A (p.Leu460Gln) c.1283T>A (p.Leu428Gln) c.659T>A (p.Leu220Gln) c.1472T>A (p.Leu491Gln) c.1376T>A (p.Leu459Gln) c.8370+123976A>T (n.8370+123976A>T) | |
| 2 | g.108897023G>A | CA428203974 | EDAR,RANBP2 | c.1231C>T (p.Leu411=) c.1327C>T (p.Leu443=) c.1378C>T (p.Leu460=) c.1282C>T (p.Leu428=) c.658C>T (p.Leu220=) c.1471C>T (p.Leu491=) c.1375C>T (p.Leu459=) c.8370+123977G>A (n.8370+123977G>A) | |
| 2 | g.108897023G>C | CA348047870 | EDAR,RANBP2 | c.1231C>G (p.Leu411Val) c.1327C>G (p.Leu443Val) c.1378C>G (p.Leu460Val) c.1282C>G (p.Leu428Val) c.658C>G (p.Leu220Val) c.1471C>G (p.Leu491Val) c.1375C>G (p.Leu459Val) c.8370+123977G>C (n.8370+123977G>C) | |
| 2 | g.108897023G>T | CA348047872 | EDAR,RANBP2 | c.1231C>A (p.Leu411Ile) c.1327C>A (p.Leu443Ile) c.1378C>A (p.Leu460Ile) c.1282C>A (p.Leu428Ile) c.658C>A (p.Leu220Ile) c.1471C>A (p.Leu491Ile) c.1375C>A (p.Leu459Ile) c.8370+123977G>T (n.8370+123977G>T) | |
| 2 | g.108897024C>A | CA348047874 | EDAR,RANBP2 | c.1230G>T (p.Glu410Asp) c.1326G>T (p.Glu442Asp) c.1377G>T (p.Glu459Asp) c.1281G>T (p.Glu427Asp) c.657G>T (p.Glu219Asp) c.1470G>T (p.Glu490Asp) c.1374G>T (p.Glu458Asp) c.8370+123978C>A (n.8370+123978C>A) | |
| 2 | g.108897024C= | CA1278354239 | EDAR,RANBP2 | c.1230G= (p.Glu410=) c.1326G= (p.Glu442=) c.1377G= (p.Glu459=) c.1281G= (p.Glu427=) c.657G= (p.Glu219=) c.1470G= (p.Glu490=) c.1374G= (p.Glu458=) c.8370+123978C= (n.8370+123978C=) | |
| 2 | g.108897024C>G | CA348047876 | EDAR,RANBP2 | c.1230G>C (p.Glu410Asp) c.1326G>C (p.Glu442Asp) c.1377G>C (p.Glu459Asp) c.1281G>C (p.Glu427Asp) c.657G>C (p.Glu219Asp) c.1470G>C (p.Glu490Asp) c.1374G>C (p.Glu458Asp) c.8370+123978C>G (n.8370+123978C>G) | dbSNP gnomAD v4 |
| 2 | g.108897024C>T | CA1824798 | EDAR,RANBP2 | c.1230G>A (p.Glu410=) c.1326G>A (p.Glu442=) c.1377G>A (p.Glu459=) c.1281G>A (p.Glu427=) c.657G>A (p.Glu219=) c.1470G>A (p.Glu490=) c.1374G>A (p.Glu458=) c.8370+123978C>T (n.8370+123978C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897025T>A | CA348047882 | EDAR,RANBP2 | c.1229A>T (p.Glu410Val) c.1325A>T (p.Glu442Val) c.1376A>T (p.Glu459Val) c.1280A>T (p.Glu427Val) c.656A>T (p.Glu219Val) c.1469A>T (p.Glu490Val) c.1373A>T (p.Glu458Val) c.8370+123979T>A (n.8370+123979T>A) | |
| 2 | g.108897025T>C | CA16617224 | EDAR,RANBP2 | c.1229A>G (p.Glu410Gly) c.1325A>G (p.Glu442Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.656A>G (p.Glu219Gly) c.1469A>G (p.Glu490Gly) c.1373A>G (p.Glu458Gly) c.8370+123979T>C (n.8370+123979T>C) | ClinVar dbSNP |
| 2 | g.108897025T>G | CA348047880 | EDAR,RANBP2 | c.1229A>C (p.Glu410Ala) c.1325A>C (p.Glu442Ala) c.1376A>C (p.Glu459Ala) c.1280A>C (p.Glu427Ala) c.656A>C (p.Glu219Ala) c.1469A>C (p.Glu490Ala) c.1373A>C (p.Glu458Ala) c.8370+123979T>G (n.8370+123979T>G) |