| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108896954A= | CA1278354212 | EDAR,RANBP2 | c.1300T= (p.Trp434=) c.1396T= (p.Trp466=) c.1447T= (p.Trp483=) c.1351T= (p.Trp451=) c.727T= (p.Trp243=) c.1540T= (p.Trp514=) c.1444T= (p.Trp482=) c.8370+123908A= (n.8370+123908A=) | |
| 2 | g.108896954A>C | CA348047578 | EDAR,RANBP2 | c.1300T>G (p.Trp434Gly) c.1396T>G (p.Trp466Gly) c.1447T>G (p.Trp483Gly) c.1351T>G (p.Trp451Gly) c.727T>G (p.Trp243Gly) c.1540T>G (p.Trp514Gly) c.1444T>G (p.Trp482Gly) c.8370+123908A>C (n.8370+123908A>C) | ClinVar dbSNP |
| 2 | g.108896954A>G | CA1824791 | EDAR,RANBP2 | c.1300T>C (p.Trp434Arg) c.1396T>C (p.Trp466Arg) c.1447T>C (p.Trp483Arg) c.1351T>C (p.Trp451Arg) c.727T>C (p.Trp243Arg) c.1540T>C (p.Trp514Arg) c.1444T>C (p.Trp482Arg) c.8370+123908A>G (n.8370+123908A>G) | dbSNP ExAC gnomAD v4 |
| 2 | g.108896954A>T | CA348047576 | EDAR,RANBP2 | c.1300T>A (p.Trp434Arg) c.1396T>A (p.Trp466Arg) c.1447T>A (p.Trp483Arg) c.1351T>A (p.Trp451Arg) c.727T>A (p.Trp243Arg) c.1540T>A (p.Trp514Arg) c.1444T>A (p.Trp482Arg) c.8370+123908A>T (n.8370+123908A>T) | |
| 2 | g.108896955C>A | CA348047580 | EDAR,RANBP2 | c.1299G>T (p.Glu433Asp) c.1395G>T (p.Glu465Asp) c.1446G>T (p.Glu482Asp) c.1350G>T (p.Glu450Asp) c.726G>T (p.Glu242Asp) c.1539G>T (p.Glu513Asp) c.1443G>T (p.Glu481Asp) c.8370+123909C>A (n.8370+123909C>A) | |
| 2 | g.108896955C= | CA1278354213 | EDAR,RANBP2 | c.1299G= (p.Glu433=) c.1395G= (p.Glu465=) c.1446G= (p.Glu482=) c.1350G= (p.Glu450=) c.726G= (p.Glu242=) c.1539G= (p.Glu513=) c.1443G= (p.Glu481=) c.8370+123909C= (n.8370+123909C=) | |
| 2 | g.108896955C>G | CA348047582 | EDAR,RANBP2 | c.1299G>C (p.Glu433Asp) c.1395G>C (p.Glu465Asp) c.1446G>C (p.Glu482Asp) c.1350G>C (p.Glu450Asp) c.726G>C (p.Glu242Asp) c.1539G>C (p.Glu513Asp) c.1443G>C (p.Glu481Asp) c.8370+123909C>G (n.8370+123909C>G) | |
| 2 | g.108896955C>T | CA53464678 | EDAR,RANBP2 | c.1299G>A (p.Glu433=) c.1395G>A (p.Glu465=) c.1446G>A (p.Glu482=) c.1350G>A (p.Glu450=) c.726G>A (p.Glu242=) c.1539G>A (p.Glu513=) c.1443G>A (p.Glu481=) c.8370+123909C>T (n.8370+123909C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108896956T>A | CA348047586 | EDAR,RANBP2 | c.1298A>T (p.Glu433Val) c.1394A>T (p.Glu465Val) c.1445A>T (p.Glu482Val) c.1349A>T (p.Glu450Val) c.725A>T (p.Glu242Val) c.1538A>T (p.Glu513Val) c.1442A>T (p.Glu481Val) c.8370+123910T>A (n.8370+123910T>A) | |
| 2 | g.108896956T>C | CA348047588 | EDAR,RANBP2 | c.1298A>G (p.Glu433Gly) c.1394A>G (p.Glu465Gly) c.1445A>G (p.Glu482Gly) c.1349A>G (p.Glu450Gly) c.725A>G (p.Glu242Gly) c.1538A>G (p.Glu513Gly) c.1442A>G (p.Glu481Gly) c.8370+123910T>C (n.8370+123910T>C) | gnomAD v4 |
| 2 | g.108896956T>G | CA348047590 | EDAR,RANBP2 | c.1298A>C (p.Glu433Ala) c.1394A>C (p.Glu465Ala) c.1445A>C (p.Glu482Ala) c.1349A>C (p.Glu450Ala) c.725A>C (p.Glu242Ala) c.1538A>C (p.Glu513Ala) c.1442A>C (p.Glu481Ala) c.8370+123910T>G (n.8370+123910T>G) | gnomAD v4 |
| 2 | g.108896957C>A | CA348047592 | EDAR,RANBP2 | c.1297G>T (p.Glu433Ter) c.1393G>T (p.Glu465Ter) c.1444G>T (p.Glu482Ter) c.1348G>T (p.Glu450Ter) c.724G>T (p.Glu242Ter) c.1537G>T (p.Glu513Ter) c.1441G>T (p.Glu481Ter) c.8370+123911C>A (n.8370+123911C>A) | ClinVar |
| 2 | g.108896957C>G | CA348047594 | EDAR,RANBP2 | c.1297G>C (p.Glu433Gln) c.1393G>C (p.Glu465Gln) c.1444G>C (p.Glu482Gln) c.1348G>C (p.Glu450Gln) c.724G>C (p.Glu242Gln) c.1537G>C (p.Glu513Gln) c.1441G>C (p.Glu481Gln) c.8370+123911C>G (n.8370+123911C>G) | |
| 2 | g.108896957C>T | CA348047595 | EDAR,RANBP2 | c.1297G>A (p.Glu433Lys) c.1393G>A (p.Glu465Lys) c.1444G>A (p.Glu482Lys) c.1348G>A (p.Glu450Lys) c.724G>A (p.Glu242Lys) c.1537G>A (p.Glu513Lys) c.1441G>A (p.Glu481Lys) c.8370+123911C>T (n.8370+123911C>T) | gnomAD v4 |
| 2 | g.108896958C>A | CA428203890 | EDAR,RANBP2 | c.1296G>T (p.Leu432=) c.1392G>T (p.Leu464=) c.1443G>T (p.Leu481=) c.1347G>T (p.Leu449=) c.723G>T (p.Leu241=) c.1536G>T (p.Leu512=) c.1440G>T (p.Leu480=) c.8370+123912C>A (n.8370+123912C>A) | |
| 2 | g.108896958C= | CA1278354214 | EDAR,RANBP2 | c.1296G= (p.Leu432=) c.1392G= (p.Leu464=) c.1443G= (p.Leu481=) c.1347G= (p.Leu449=) c.723G= (p.Leu241=) c.1536G= (p.Leu512=) c.1440G= (p.Leu480=) c.8370+123912C= (n.8370+123912C=) | |
| 2 | g.108896958C>G | CA428203892 | EDAR,RANBP2 | c.1296G>C (p.Leu432=) c.1392G>C (p.Leu464=) c.1443G>C (p.Leu481=) c.1347G>C (p.Leu449=) c.723G>C (p.Leu241=) c.1536G>C (p.Leu512=) c.1440G>C (p.Leu480=) c.8370+123912C>G (n.8370+123912C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896958C>T | CA428203891 | EDAR,RANBP2 | c.1296G>A (p.Leu432=) c.1392G>A (p.Leu464=) c.1443G>A (p.Leu481=) c.1347G>A (p.Leu449=) c.723G>A (p.Leu241=) c.1536G>A (p.Leu512=) c.1440G>A (p.Leu480=) c.8370+123912C>T (n.8370+123912C>T) | |
| 2 | g.108896959A>C | CA348047596 | EDAR,RANBP2 | c.1295T>G (p.Leu432Arg) c.1391T>G (p.Leu464Arg) c.1442T>G (p.Leu481Arg) c.1346T>G (p.Leu449Arg) c.722T>G (p.Leu241Arg) c.1535T>G (p.Leu512Arg) c.1439T>G (p.Leu480Arg) c.8370+123913A>C (n.8370+123913A>C) | |
| 2 | g.108896959A>G | CA348047598 | EDAR,RANBP2 | c.1295T>C (p.Leu432Pro) c.1391T>C (p.Leu464Pro) c.1442T>C (p.Leu481Pro) c.1346T>C (p.Leu449Pro) c.722T>C (p.Leu241Pro) c.1535T>C (p.Leu512Pro) c.1439T>C (p.Leu480Pro) c.8370+123913A>G (n.8370+123913A>G) | |
| 2 | g.108896959A>T | CA348047599 | EDAR,RANBP2 | c.1295T>A (p.Leu432Gln) c.1391T>A (p.Leu464Gln) c.1442T>A (p.Leu481Gln) c.1346T>A (p.Leu449Gln) c.722T>A (p.Leu241Gln) c.1535T>A (p.Leu512Gln) c.1439T>A (p.Leu480Gln) c.8370+123913A>T (n.8370+123913A>T) | |
| 2 | g.108896960G>A | CA428203893 | EDAR,RANBP2 | c.1294C>T (p.Leu432=) c.1390C>T (p.Leu464=) c.1441C>T (p.Leu481=) c.1345C>T (p.Leu449=) c.721C>T (p.Leu241=) c.1534C>T (p.Leu512=) c.1438C>T (p.Leu480=) c.8370+123914G>A (n.8370+123914G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896960G>C | CA348047603 | EDAR,RANBP2 | c.1294C>G (p.Leu432Val) c.1390C>G (p.Leu464Val) c.1441C>G (p.Leu481Val) c.1345C>G (p.Leu449Val) c.721C>G (p.Leu241Val) c.1534C>G (p.Leu512Val) c.1438C>G (p.Leu480Val) c.8370+123914G>C (n.8370+123914G>C) | |
| 2 | g.108896960G= | CA1278354215 | EDAR,RANBP2 | c.1294C= (p.Leu432=) c.1390C= (p.Leu464=) c.1441C= (p.Leu481=) c.1345C= (p.Leu449=) c.721C= (p.Leu241=) c.1534C= (p.Leu512=) c.1438C= (p.Leu480=) c.8370+123914G= (n.8370+123914G=) | |
| 2 | g.108896960G>T | CA348047601 | EDAR,RANBP2 | c.1294C>A (p.Leu432Met) c.1390C>A (p.Leu464Met) c.1441C>A (p.Leu481Met) c.1345C>A (p.Leu449Met) c.721C>A (p.Leu241Met) c.1534C>A (p.Leu512Met) c.1438C>A (p.Leu480Met) c.8370+123914G>T (n.8370+123914G>T) | |
| 2 | g.108896961T>A | CA428203894 | EDAR,RANBP2 | c.1293A>T (p.Ile431=) c.1389A>T (p.Ile463=) c.1440A>T (p.Ile480=) c.1344A>T (p.Ile448=) c.720A>T (p.Ile240=) c.1533A>T (p.Ile511=) c.1437A>T (p.Ile479=) c.8370+123915T>A (n.8370+123915T>A) | |
| 2 | g.108896961T>C | CA348047605 | EDAR,RANBP2 | c.1293A>G (p.Ile431Met) c.1389A>G (p.Ile463Met) c.1440A>G (p.Ile480Met) c.1344A>G (p.Ile448Met) c.720A>G (p.Ile240Met) c.1533A>G (p.Ile511Met) c.1437A>G (p.Ile479Met) c.8370+123915T>C (n.8370+123915T>C) | ClinVar dbSNP |
| 2 | g.108896961T>G | CA428203895 | EDAR,RANBP2 | c.1293A>C (p.Ile431=) c.1389A>C (p.Ile463=) c.1440A>C (p.Ile480=) c.1344A>C (p.Ile448=) c.720A>C (p.Ile240=) c.1533A>C (p.Ile511=) c.1437A>C (p.Ile479=) c.8370+123915T>G (n.8370+123915T>G) | dbSNP |
| 2 | g.108896961T= | CA1278354216 | EDAR,RANBP2 | c.1293A= (p.Ile431=) c.1389A= (p.Ile463=) c.1440A= (p.Ile480=) c.1344A= (p.Ile448=) c.720A= (p.Ile240=) c.1533A= (p.Ile511=) c.1437A= (p.Ile479=) c.8370+123915T= (n.8370+123915T=) | |
| 2 | g.108896962A= | CA1278354217 | EDAR,RANBP2 | c.1292T= (p.Ile431=) c.1388T= (p.Ile463=) c.1439T= (p.Ile480=) c.1343T= (p.Ile448=) c.719T= (p.Ile240=) c.1532T= (p.Ile511=) c.1436T= (p.Ile479=) c.8370+123916A= (n.8370+123916A=) | |
| 2 | g.108896962A>C | CA348047608 | EDAR,RANBP2 | c.1292T>G (p.Ile431Arg) c.1388T>G (p.Ile463Arg) c.1439T>G (p.Ile480Arg) c.1343T>G (p.Ile448Arg) c.719T>G (p.Ile240Arg) c.1532T>G (p.Ile511Arg) c.1436T>G (p.Ile479Arg) c.8370+123916A>C (n.8370+123916A>C) | |
| 2 | g.108896962A>G | CA348047607 | EDAR,RANBP2 | c.1292T>C (p.Ile431Thr) c.1388T>C (p.Ile463Thr) c.1439T>C (p.Ile480Thr) c.1343T>C (p.Ile448Thr) c.719T>C (p.Ile240Thr) c.1532T>C (p.Ile511Thr) c.1436T>C (p.Ile479Thr) c.8370+123916A>G (n.8370+123916A>G) | ClinVar dbSNP |
| 2 | g.108896962A>T | CA348047611 | EDAR,RANBP2 | c.1292T>A (p.Ile431Lys) c.1388T>A (p.Ile463Lys) c.1439T>A (p.Ile480Lys) c.1343T>A (p.Ile448Lys) c.719T>A (p.Ile240Lys) c.1532T>A (p.Ile511Lys) c.1436T>A (p.Ile479Lys) c.8370+123916A>T (n.8370+123916A>T) | |
| 2 | g.108896963T>A | CA348047612 | EDAR,RANBP2 | c.1291A>T (p.Ile431Leu) c.1387A>T (p.Ile463Leu) c.1438A>T (p.Ile480Leu) c.1342A>T (p.Ile448Leu) c.718A>T (p.Ile240Leu) c.1531A>T (p.Ile511Leu) c.1435A>T (p.Ile479Leu) c.8370+123917T>A (n.8370+123917T>A) | |
| 2 | g.108896963T>C | CA1824792 | EDAR,RANBP2 | c.1291A>G (p.Ile431Val) c.1387A>G (p.Ile463Val) c.1438A>G (p.Ile480Val) c.1342A>G (p.Ile448Val) c.718A>G (p.Ile240Val) c.1531A>G (p.Ile511Val) c.1435A>G (p.Ile479Val) c.8370+123917T>C (n.8370+123917T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.108896963T>G | CA348047615 | EDAR,RANBP2 | c.1291A>C (p.Ile431Leu) c.1387A>C (p.Ile463Leu) c.1438A>C (p.Ile480Leu) c.1342A>C (p.Ile448Leu) c.718A>C (p.Ile240Leu) c.1531A>C (p.Ile511Leu) c.1435A>C (p.Ile479Leu) c.8370+123917T>G (n.8370+123917T>G) | |
| 2 | g.108896963T= | CA1278354218 | EDAR,RANBP2 | c.1291A= (p.Ile431=) c.1387A= (p.Ile463=) c.1438A= (p.Ile480=) c.1342A= (p.Ile448=) c.718A= (p.Ile240=) c.1531A= (p.Ile511=) c.1435A= (p.Ile479=) c.8370+123917T= (n.8370+123917T=) | |
| 2 | g.108896964G>A | CA428203896 | EDAR,RANBP2 | c.1290C>T (p.Asp430=) c.1386C>T (p.Asp462=) c.1437C>T (p.Asp479=) c.1341C>T (p.Asp447=) c.717C>T (p.Asp239=) c.1530C>T (p.Asp510=) c.1434C>T (p.Asp478=) c.8370+123918G>A (n.8370+123918G>A) | |
| 2 | g.108896964G>C | CA348047617 | EDAR,RANBP2 | c.1290C>G (p.Asp430Glu) c.1386C>G (p.Asp462Glu) c.1437C>G (p.Asp479Glu) c.1341C>G (p.Asp447Glu) c.717C>G (p.Asp239Glu) c.1530C>G (p.Asp510Glu) c.1434C>G (p.Asp478Glu) c.8370+123918G>C (n.8370+123918G>C) | |
| 2 | g.108896964G= | CA1278354219 | EDAR,RANBP2 | c.1290C= (p.Asp430=) c.1386C= (p.Asp462=) c.1437C= (p.Asp479=) c.1341C= (p.Asp447=) c.717C= (p.Asp239=) c.1530C= (p.Asp510=) c.1434C= (p.Asp478=) c.8370+123918G= (n.8370+123918G=) | |
| 2 | g.108896964G>T | CA348047619 | EDAR,RANBP2 | c.1290C>A (p.Asp430Glu) c.1386C>A (p.Asp462Glu) c.1437C>A (p.Asp479Glu) c.1341C>A (p.Asp447Glu) c.717C>A (p.Asp239Glu) c.1530C>A (p.Asp510Glu) c.1434C>A (p.Asp478Glu) c.8370+123918G>T (n.8370+123918G>T) | dbSNP |
| 2 | g.108896965T>A | CA348047624 | EDAR,RANBP2 | c.1289A>T (p.Asp430Val) c.1385A>T (p.Asp462Val) c.1436A>T (p.Asp479Val) c.1340A>T (p.Asp447Val) c.716A>T (p.Asp239Val) c.1529A>T (p.Asp510Val) c.1433A>T (p.Asp478Val) c.8370+123919T>A (n.8370+123919T>A) | |
| 2 | g.108896965T>C | CA348047622 | EDAR,RANBP2 | c.1289A>G (p.Asp430Gly) c.1385A>G (p.Asp462Gly) c.1436A>G (p.Asp479Gly) c.1340A>G (p.Asp447Gly) c.716A>G (p.Asp239Gly) c.1529A>G (p.Asp510Gly) c.1433A>G (p.Asp478Gly) c.8370+123919T>C (n.8370+123919T>C) | |
| 2 | g.108896965T>G | CA348047621 | EDAR,RANBP2 | c.1289A>C (p.Asp430Ala) c.1385A>C (p.Asp462Ala) c.1436A>C (p.Asp479Ala) c.1340A>C (p.Asp447Ala) c.716A>C (p.Asp239Ala) c.1529A>C (p.Asp510Ala) c.1433A>C (p.Asp478Ala) c.8370+123919T>G (n.8370+123919T>G) | |
| 2 | g.108896966C>A | CA348047626 | EDAR,RANBP2 | c.1288G>T (p.Asp430Tyr) c.1384G>T (p.Asp462Tyr) c.1435G>T (p.Asp479Tyr) c.1339G>T (p.Asp447Tyr) c.715G>T (p.Asp239Tyr) c.1528G>T (p.Asp510Tyr) c.1432G>T (p.Asp478Tyr) c.8370+123920C>A (n.8370+123920C>A) | |
| 2 | g.108896966C= | CA1278354220 | EDAR,RANBP2 | c.1288G= (p.Asp430=) c.1384G= (p.Asp462=) c.1435G= (p.Asp479=) c.1339G= (p.Asp447=) c.715G= (p.Asp239=) c.1528G= (p.Asp510=) c.1432G= (p.Asp478=) c.8370+123920C= (n.8370+123920C=) | |
| 2 | g.108896966C>G | CA348047627 | EDAR,RANBP2 | c.1288G>C (p.Asp430His) c.1384G>C (p.Asp462His) c.1435G>C (p.Asp479His) c.1339G>C (p.Asp447His) c.715G>C (p.Asp239His) c.1528G>C (p.Asp510His) c.1432G>C (p.Asp478His) c.8370+123920C>G (n.8370+123920C>G) | |
| 2 | g.108896966C>T | CA10611771 | EDAR,RANBP2 | c.1288G>A (p.Asp430Asn) c.1384G>A (p.Asp462Asn) c.1435G>A (p.Asp479Asn) c.1339G>A (p.Asp447Asn) c.715G>A (p.Asp239Asn) c.1528G>A (p.Asp510Asn) c.1432G>A (p.Asp478Asn) c.8370+123920C>T (n.8370+123920C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108896967T>A | CA428203900 | EDAR,RANBP2 | c.1287A>T (p.Ala429=) c.1383A>T (p.Ala461=) c.1434A>T (p.Ala478=) c.1338A>T (p.Ala446=) c.714A>T (p.Ala238=) c.1527A>T (p.Ala509=) c.1431A>T (p.Ala477=) c.8370+123921T>A (n.8370+123921T>A) | |
| 2 | g.108896967T>C | CA428203901 | EDAR,RANBP2 | c.1287A>G (p.Ala429=) c.1383A>G (p.Ala461=) c.1434A>G (p.Ala478=) c.1338A>G (p.Ala446=) c.714A>G (p.Ala238=) c.1527A>G (p.Ala509=) c.1431A>G (p.Ala477=) c.8370+123921T>C (n.8370+123921T>C) | gnomAD v4 |