Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108896909A= | CA1278354188 | EDAR,RANBP2 | c.1345T= (p.Ter449=) c.1441T= (p.Ter481=) c.1492T= (p.Ter498=) c.1396T= (p.Ter466=) c.772T= (p.Ter258=) c.1585T= (p.Ter529=) c.1489T= (p.Ter497=) c.8370+123863A= (n.8370+123863A=) | |
2 | g.108896909A>C | CA348047404 | EDAR,RANBP2 | c.1345T>G (p.Ter449Gly) c.1441T>G (p.Ter481Gly) c.1492T>G (p.Ter498Gly) c.1396T>G (p.Ter466Gly) c.772T>G (p.Ter258Gly) c.1585T>G (p.Ter529Gly) c.1489T>G (p.Ter497Gly) c.8370+123863A>C (n.8370+123863A>C) | |
2 | g.108896909A>G | CA348047406 | EDAR,RANBP2 | c.1345T>C (p.Ter449Arg) c.1441T>C (p.Ter481Arg) c.1492T>C (p.Ter498Arg) c.1396T>C (p.Ter466Arg) c.772T>C (p.Ter258Arg) c.1585T>C (p.Ter529Arg) c.1489T>C (p.Ter497Arg) c.8370+123863A>G (n.8370+123863A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896909A>T | CA348047407 | EDAR,RANBP2 | c.1345T>A (p.Ter449Arg) c.1441T>A (p.Ter481Arg) c.1492T>A (p.Ter498Arg) c.1396T>A (p.Ter466Arg) c.772T>A (p.Ter258Arg) c.1585T>A (p.Ter529Arg) c.1489T>A (p.Ter497Arg) c.8370+123863A>T (n.8370+123863A>T) | |
2 | g.108896910G>A | CA428203860 | EDAR,RANBP2 | c.1344C>T (p.Ser448=) c.1440C>T (p.Ser480=) c.1491C>T (p.Ser497=) c.1395C>T (p.Ser465=) c.771C>T (p.Ser257=) c.1584C>T (p.Ser528=) c.1488C>T (p.Ser496=) c.8370+123864G>A (n.8370+123864G>A) | |
2 | g.108896910G>C | CA428203859 | EDAR,RANBP2 | c.1344C>G (p.Ser448=) c.1440C>G (p.Ser480=) c.1491C>G (p.Ser497=) c.1395C>G (p.Ser465=) c.771C>G (p.Ser257=) c.1584C>G (p.Ser528=) c.1488C>G (p.Ser496=) c.8370+123864G>C (n.8370+123864G>C) | |
2 | g.108896910G>T | CA428203858 | EDAR,RANBP2 | c.1344C>A (p.Ser448=) c.1440C>A (p.Ser480=) c.1491C>A (p.Ser497=) c.1395C>A (p.Ser465=) c.771C>A (p.Ser257=) c.1584C>A (p.Ser528=) c.1488C>A (p.Ser496=) c.8370+123864G>T (n.8370+123864G>T) | |
2 | g.108896911G>A | CA348047409 | EDAR,RANBP2 | c.1343C>T (p.Ser448Phe) c.1439C>T (p.Ser480Phe) c.1490C>T (p.Ser497Phe) c.1394C>T (p.Ser465Phe) c.770C>T (p.Ser257Phe) c.1583C>T (p.Ser528Phe) c.1487C>T (p.Ser496Phe) c.8370+123865G>A (n.8370+123865G>A) | |
2 | g.108896911G>C | CA348047410 | EDAR,RANBP2 | c.1343C>G (p.Ser448Cys) c.1439C>G (p.Ser480Cys) c.1490C>G (p.Ser497Cys) c.1394C>G (p.Ser465Cys) c.770C>G (p.Ser257Cys) c.1583C>G (p.Ser528Cys) c.1487C>G (p.Ser496Cys) c.8370+123865G>C (n.8370+123865G>C) | |
2 | g.108896911G>T | CA348047412 | EDAR,RANBP2 | c.1343C>A (p.Ser448Tyr) c.1439C>A (p.Ser480Tyr) c.1490C>A (p.Ser497Tyr) c.1394C>A (p.Ser465Tyr) c.770C>A (p.Ser257Tyr) c.1583C>A (p.Ser528Tyr) c.1487C>A (p.Ser496Tyr) c.8370+123865G>T (n.8370+123865G>T) | |
2 | g.108896912A>C | CA348047415 | EDAR,RANBP2 | c.1342T>G (p.Ser448Ala) c.1438T>G (p.Ser480Ala) c.1489T>G (p.Ser497Ala) c.1393T>G (p.Ser465Ala) c.769T>G (p.Ser257Ala) c.1582T>G (p.Ser528Ala) c.1486T>G (p.Ser496Ala) c.8370+123866A>C (n.8370+123866A>C) | |
2 | g.108896912A>G | CA348047416 | EDAR,RANBP2 | c.1342T>C (p.Ser448Pro) c.1438T>C (p.Ser480Pro) c.1489T>C (p.Ser497Pro) c.1393T>C (p.Ser465Pro) c.769T>C (p.Ser257Pro) c.1582T>C (p.Ser528Pro) c.1486T>C (p.Ser496Pro) c.8370+123866A>G (n.8370+123866A>G) | |
2 | g.108896912A>T | CA348047418 | EDAR,RANBP2 | c.1342T>A (p.Ser448Thr) c.1438T>A (p.Ser480Thr) c.1489T>A (p.Ser497Thr) c.1393T>A (p.Ser465Thr) c.769T>A (p.Ser257Thr) c.1582T>A (p.Ser528Thr) c.1486T>A (p.Ser496Thr) c.8370+123866A>T (n.8370+123866A>T) | |
2 | g.108896913T>A | CA428203861 | EDAR,RANBP2 | c.1341A>T (p.Ala447=) c.1437A>T (p.Ala479=) c.1488A>T (p.Ala496=) c.1392A>T (p.Ala464=) c.768A>T (p.Ala256=) c.1581A>T (p.Ala527=) c.1485A>T (p.Ala495=) c.8370+123867T>A (n.8370+123867T>A) | |
2 | g.108896913T>C | CA428203862 | EDAR,RANBP2 | c.1341A>G (p.Ala447=) c.1437A>G (p.Ala479=) c.1488A>G (p.Ala496=) c.1392A>G (p.Ala464=) c.768A>G (p.Ala256=) c.1581A>G (p.Ala527=) c.1485A>G (p.Ala495=) c.8370+123867T>C (n.8370+123867T>C) | gnomAD v4 |
2 | g.108896913T>G | CA428203863 | EDAR,RANBP2 | c.1341A>C (p.Ala447=) c.1437A>C (p.Ala479=) c.1488A>C (p.Ala496=) c.1392A>C (p.Ala464=) c.768A>C (p.Ala256=) c.1581A>C (p.Ala527=) c.1485A>C (p.Ala495=) c.8370+123867T>G (n.8370+123867T>G) | |
2 | g.108896914G>A | CA348047423 | EDAR,RANBP2 | c.1340C>T (p.Ala447Val) c.1436C>T (p.Ala479Val) c.1487C>T (p.Ala496Val) c.1391C>T (p.Ala464Val) c.767C>T (p.Ala256Val) c.1580C>T (p.Ala527Val) c.1484C>T (p.Ala495Val) c.8370+123868G>A (n.8370+123868G>A) | gnomAD v4 |
2 | g.108896914G>C | CA348047421 | EDAR,RANBP2 | c.1340C>G (p.Ala447Gly) c.1436C>G (p.Ala479Gly) c.1487C>G (p.Ala496Gly) c.1391C>G (p.Ala464Gly) c.767C>G (p.Ala256Gly) c.1580C>G (p.Ala527Gly) c.1484C>G (p.Ala495Gly) c.8370+123868G>C (n.8370+123868G>C) | |
2 | g.108896914G>T | CA348047420 | EDAR,RANBP2 | c.1340C>A (p.Ala447Glu) c.1436C>A (p.Ala479Glu) c.1487C>A (p.Ala496Glu) c.1391C>A (p.Ala464Glu) c.767C>A (p.Ala256Glu) c.1580C>A (p.Ala527Glu) c.1484C>A (p.Ala495Glu) c.8370+123868G>T (n.8370+123868G>T) | |
2 | g.108896915C>A | CA348047426 | EDAR,RANBP2 | c.1339G>T (p.Ala447Ser) c.1435G>T (p.Ala479Ser) c.1486G>T (p.Ala496Ser) c.1390G>T (p.Ala464Ser) c.766G>T (p.Ala256Ser) c.1579G>T (p.Ala527Ser) c.1483G>T (p.Ala495Ser) c.8370+123869C>A (n.8370+123869C>A) | |
2 | g.108896915C>G | CA348047428 | EDAR,RANBP2 | c.1339G>C (p.Ala447Pro) c.1435G>C (p.Ala479Pro) c.1486G>C (p.Ala496Pro) c.1390G>C (p.Ala464Pro) c.766G>C (p.Ala256Pro) c.1579G>C (p.Ala527Pro) c.1483G>C (p.Ala495Pro) c.8370+123869C>G (n.8370+123869C>G) | |
2 | g.108896915C>T | CA348047429 | EDAR,RANBP2 | c.1339G>A (p.Ala447Thr) c.1435G>A (p.Ala479Thr) c.1486G>A (p.Ala496Thr) c.1390G>A (p.Ala464Thr) c.766G>A (p.Ala256Thr) c.1579G>A (p.Ala527Thr) c.1483G>A (p.Ala495Thr) c.8370+123869C>T (n.8370+123869C>T) | gnomAD v4 |
2 | g.108896916A= | CA1278354189 | EDAR,RANBP2 | c.1338T= (p.Ala446=) c.1434T= (p.Ala478=) c.1485T= (p.Ala495=) c.1389T= (p.Ala463=) c.765T= (p.Ala255=) c.1578T= (p.Ala526=) c.1482T= (p.Ala494=) c.8370+123870A= (n.8370+123870A=) | |
2 | g.108896916A>C | CA428203864 | EDAR,RANBP2 | c.1338T>G (p.Ala446=) c.1434T>G (p.Ala478=) c.1485T>G (p.Ala495=) c.1389T>G (p.Ala463=) c.765T>G (p.Ala255=) c.1578T>G (p.Ala526=) c.1482T>G (p.Ala494=) c.8370+123870A>C (n.8370+123870A>C) | |
2 | g.108896916A>G | CA1824780 | EDAR,RANBP2 | c.1338T>C (p.Ala446=) c.1434T>C (p.Ala478=) c.1485T>C (p.Ala495=) c.1389T>C (p.Ala463=) c.765T>C (p.Ala255=) c.1578T>C (p.Ala526=) c.1482T>C (p.Ala494=) c.8370+123870A>G (n.8370+123870A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896916A>T | CA428203865 | EDAR,RANBP2 | c.1338T>A (p.Ala446=) c.1434T>A (p.Ala478=) c.1485T>A (p.Ala495=) c.1389T>A (p.Ala463=) c.765T>A (p.Ala255=) c.1578T>A (p.Ala526=) c.1482T>A (p.Ala494=) c.8370+123870A>T (n.8370+123870A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.108896917G>A | CA348047430 | EDAR,RANBP2 | c.1337C>T (p.Ala446Val) c.1433C>T (p.Ala478Val) c.1484C>T (p.Ala495Val) c.1388C>T (p.Ala463Val) c.764C>T (p.Ala255Val) c.1577C>T (p.Ala526Val) c.1481C>T (p.Ala494Val) c.8370+123871G>A (n.8370+123871G>A) | |
2 | g.108896917G>C | CA348047431 | EDAR,RANBP2 | c.1337C>G (p.Ala446Gly) c.1433C>G (p.Ala478Gly) c.1484C>G (p.Ala495Gly) c.1388C>G (p.Ala463Gly) c.764C>G (p.Ala255Gly) c.1577C>G (p.Ala526Gly) c.1481C>G (p.Ala494Gly) c.8370+123871G>C (n.8370+123871G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896917G= | CA1278354190 | EDAR,RANBP2 | c.1337C= (p.Ala446=) c.1433C= (p.Ala478=) c.1484C= (p.Ala495=) c.1388C= (p.Ala463=) c.764C= (p.Ala255=) c.1577C= (p.Ala526=) c.1481C= (p.Ala494=) c.8370+123871G= (n.8370+123871G=) | |
2 | g.108896917G>T | CA348047432 | EDAR,RANBP2 | c.1337C>A (p.Ala446Asp) c.1433C>A (p.Ala478Asp) c.1484C>A (p.Ala495Asp) c.1388C>A (p.Ala463Asp) c.764C>A (p.Ala255Asp) c.1577C>A (p.Ala526Asp) c.1481C>A (p.Ala494Asp) c.8370+123871G>T (n.8370+123871G>T) | |
2 | g.108896918C>A | CA348047433 | EDAR,RANBP2 | c.1336G>T (p.Ala446Ser) c.1432G>T (p.Ala478Ser) c.1483G>T (p.Ala495Ser) c.1387G>T (p.Ala463Ser) c.763G>T (p.Ala255Ser) c.1576G>T (p.Ala526Ser) c.1480G>T (p.Ala494Ser) c.8370+123872C>A (n.8370+123872C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896918C= | CA1278354192 | EDAR,RANBP2 | c.1336G= (p.Ala446=) c.1432G= (p.Ala478=) c.1483G= (p.Ala495=) c.1387G= (p.Ala463=) c.763G= (p.Ala255=) c.1576G= (p.Ala526=) c.1480G= (p.Ala494=) c.8370+123872C= (n.8370+123872C=) | |
2 | g.108896918C>G | CA348047434 | EDAR,RANBP2 | c.1336G>C (p.Ala446Pro) c.1432G>C (p.Ala478Pro) c.1483G>C (p.Ala495Pro) c.1387G>C (p.Ala463Pro) c.763G>C (p.Ala255Pro) c.1576G>C (p.Ala526Pro) c.1480G>C (p.Ala494Pro) c.8370+123872C>G (n.8370+123872C>G) | |
2 | g.108896918C>T | CA348047435 | EDAR,RANBP2 | c.1336G>A (p.Ala446Thr) c.1432G>A (p.Ala478Thr) c.1483G>A (p.Ala495Thr) c.1387G>A (p.Ala463Thr) c.763G>A (p.Ala255Thr) c.1576G>A (p.Ala526Thr) c.1480G>A (p.Ala494Thr) c.8370+123872C>T (n.8370+123872C>T) | |
2 | g.108896918_108896919delinsCA | CA1278354191 | EDAR,RANBP2 | c.1335_1336delinsTG (p.His445=) c.1431_1432delinsTG (p.His477=) c.1482_1483delinsTG (p.His494=) c.1386_1387delinsTG (p.His462=) c.762_763delinsTG (p.His254=) c.1575_1576delinsTG (p.His525=) c.1479_1480delinsTG (p.His493=) c.8370+123872_8370+123873delinsCA (n.8370+123872_8370+123873delinsCA) | |
2 | g.108896919del | CA53464610 | EDAR,RANBP2 | c.1335del (p.His445GlnfsTer?) c.1431del (p.His477GlnfsTer?) c.1482del (p.His494GlnfsTer?) c.1386del (p.His462GlnfsTer?) c.762del (p.His254GlnfsTer?) c.1575del (p.His525GlnfsTer?) c.1479del (p.His493GlnfsTer?) c.8370+123873del (n.8370+123873del) | dbSNP gnomAD v4 |
2 | g.108896919A= | CA1278354193 | EDAR,RANBP2 | c.1335T= (p.His445=) c.1431T= (p.His477=) c.1482T= (p.His494=) c.1386T= (p.His462=) c.762T= (p.His254=) c.1575T= (p.His525=) c.1479T= (p.His493=) c.8370+123873A= (n.8370+123873A=) | |
2 | g.108896919A>C | CA348047436 | EDAR,RANBP2 | c.1335T>G (p.His445Gln) c.1431T>G (p.His477Gln) c.1482T>G (p.His494Gln) c.1386T>G (p.His462Gln) c.762T>G (p.His254Gln) c.1575T>G (p.His525Gln) c.1479T>G (p.His493Gln) c.8370+123873A>C (n.8370+123873A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108896919A>G | CA428203866 | EDAR,RANBP2 | c.1335T>C (p.His445=) c.1431T>C (p.His477=) c.1482T>C (p.His494=) c.1386T>C (p.His462=) c.762T>C (p.His254=) c.1575T>C (p.His525=) c.1479T>C (p.His493=) c.8370+123873A>G (n.8370+123873A>G) | |
2 | g.108896919A>T | CA348047437 | EDAR,RANBP2 | c.1335T>A (p.His445Gln) c.1431T>A (p.His477Gln) c.1482T>A (p.His494Gln) c.1386T>A (p.His462Gln) c.762T>A (p.His254Gln) c.1575T>A (p.His525Gln) c.1479T>A (p.His493Gln) c.8370+123873A>T (n.8370+123873A>T) | |
2 | g.108896920T>A | CA348047442 | EDAR,RANBP2 | c.1334A>T (p.His445Leu) c.1430A>T (p.His477Leu) c.1481A>T (p.His494Leu) c.1385A>T (p.His462Leu) c.761A>T (p.His254Leu) c.1574A>T (p.His525Leu) c.1478A>T (p.His493Leu) c.8370+123874T>A (n.8370+123874T>A) | gnomAD v4 |
2 | g.108896920T>C | CA348047444 | EDAR,RANBP2 | c.1334A>G (p.His445Arg) c.1430A>G (p.His477Arg) c.1481A>G (p.His494Arg) c.1385A>G (p.His462Arg) c.761A>G (p.His254Arg) c.1574A>G (p.His525Arg) c.1478A>G (p.His493Arg) c.8370+123874T>C (n.8370+123874T>C) | |
2 | g.108896920T>G | CA348047440 | EDAR,RANBP2 | c.1334A>C (p.His445Pro) c.1430A>C (p.His477Pro) c.1481A>C (p.His494Pro) c.1385A>C (p.His462Pro) c.761A>C (p.His254Pro) c.1574A>C (p.His525Pro) c.1478A>C (p.His493Pro) c.8370+123874T>G (n.8370+123874T>G) | |
2 | g.108896921G>A | CA1824781 | EDAR,RANBP2 | c.1333C>T (p.His445Tyr) c.1429C>T (p.His477Tyr) c.1480C>T (p.His494Tyr) c.1384C>T (p.His462Tyr) c.760C>T (p.His254Tyr) c.1573C>T (p.His525Tyr) c.1477C>T (p.His493Tyr) c.8370+123875G>A (n.8370+123875G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108896921G>C | CA348047447 | EDAR,RANBP2 | c.1333C>G (p.His445Asp) c.1429C>G (p.His477Asp) c.1480C>G (p.His494Asp) c.1384C>G (p.His462Asp) c.760C>G (p.His254Asp) c.1573C>G (p.His525Asp) c.1477C>G (p.His493Asp) c.8370+123875G>C (n.8370+123875G>C) | |
2 | g.108896921G= | CA1278354194 | EDAR,RANBP2 | c.1333C= (p.His445=) c.1429C= (p.His477=) c.1480C= (p.His494=) c.1384C= (p.His462=) c.760C= (p.His254=) c.1573C= (p.His525=) c.1477C= (p.His493=) c.8370+123875G= (n.8370+123875G=) | |
2 | g.108896921G>T | CA348047449 | EDAR,RANBP2 | c.1333C>A (p.His445Asn) c.1429C>A (p.His477Asn) c.1480C>A (p.His494Asn) c.1384C>A (p.His462Asn) c.760C>A (p.His254Asn) c.1573C>A (p.His525Asn) c.1477C>A (p.His493Asn) c.8370+123875G>T (n.8370+123875G>T) | |
2 | g.108896922T>A | CA428203867 | EDAR,RANBP2 | c.1332A>T (p.Pro444=) c.1428A>T (p.Pro476=) c.1479A>T (p.Pro493=) c.1383A>T (p.Pro461=) c.759A>T (p.Pro253=) c.1572A>T (p.Pro524=) c.1476A>T (p.Pro492=) c.8370+123876T>A (n.8370+123876T>A) | |
2 | g.108896922T>C | CA428203868 | EDAR,RANBP2 | c.1332A>G (p.Pro444=) c.1428A>G (p.Pro476=) c.1479A>G (p.Pro493=) c.1383A>G (p.Pro461=) c.759A>G (p.Pro253=) c.1572A>G (p.Pro524=) c.1476A>G (p.Pro492=) c.8370+123876T>C (n.8370+123876T>C) | |
2 | g.108896922T>G | CA428203869 | EDAR,RANBP2 | c.1332A>C (p.Pro444=) c.1428A>C (p.Pro476=) c.1479A>C (p.Pro493=) c.1383A>C (p.Pro461=) c.759A>C (p.Pro253=) c.1572A>C (p.Pro524=) c.1476A>C (p.Pro492=) c.8370+123876T>G (n.8370+123876T>G) |