Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897001A=CA1278354232EDAR,RANBP2c.1253T= (p.Ile418=)
c.1349T= (p.Ile450=)
c.1400T= (p.Ile467=)
c.1304T= (p.Ile435=)
c.680T= (p.Ile227=)
c.1493T= (p.Ile498=)
c.1397T= (p.Ile466=)
c.8370+123955A= (n.8370+123955A=)
2g.108897001A>CCA348047775EDAR,RANBP2c.1253T>G (p.Ile418Ser)
c.1349T>G (p.Ile450Ser)
c.1400T>G (p.Ile467Ser)
c.1304T>G (p.Ile435Ser)
c.680T>G (p.Ile227Ser)
c.1493T>G (p.Ile498Ser)
c.1397T>G (p.Ile466Ser)
c.8370+123955A>C (n.8370+123955A>C)
2g.108897001A>GCA348047777EDAR,RANBP2c.1253T>C (p.Ile418Thr)
c.1349T>C (p.Ile450Thr)
c.1400T>C (p.Ile467Thr)
c.1304T>C (p.Ile435Thr)
c.680T>C (p.Ile227Thr)
c.1493T>C (p.Ile498Thr)
c.1397T>C (p.Ile466Thr)
c.8370+123955A>G (n.8370+123955A>G)
 dbSNP
2g.108897001A>TCA348047779EDAR,RANBP2c.1253T>A (p.Ile418Asn)
c.1349T>A (p.Ile450Asn)
c.1400T>A (p.Ile467Asn)
c.1304T>A (p.Ile435Asn)
c.680T>A (p.Ile227Asn)
c.1493T>A (p.Ile498Asn)
c.1397T>A (p.Ile466Asn)
c.8370+123955A>T (n.8370+123955A>T)
2g.108897002T>ACA348047782EDAR,RANBP2c.1252A>T (p.Ile418Phe)
c.1348A>T (p.Ile450Phe)
c.1399A>T (p.Ile467Phe)
c.1303A>T (p.Ile435Phe)
c.679A>T (p.Ile227Phe)
c.1492A>T (p.Ile498Phe)
c.1396A>T (p.Ile466Phe)
c.8370+123956T>A (n.8370+123956T>A)
2g.108897002T>CCA348047784EDAR,RANBP2c.1252A>G (p.Ile418Val)
c.1348A>G (p.Ile450Val)
c.1399A>G (p.Ile467Val)
c.1303A>G (p.Ile435Val)
c.679A>G (p.Ile227Val)
c.1492A>G (p.Ile498Val)
c.1396A>G (p.Ile466Val)
c.8370+123956T>C (n.8370+123956T>C)
2g.108897002T>GCA348047781EDAR,RANBP2c.1252A>C (p.Ile418Leu)
c.1348A>C (p.Ile450Leu)
c.1399A>C (p.Ile467Leu)
c.1303A>C (p.Ile435Leu)
c.679A>C (p.Ile227Leu)
c.1492A>C (p.Ile498Leu)
c.1396A>C (p.Ile466Leu)
c.8370+123956T>G (n.8370+123956T>G)
2g.108897002_108897005delinsTCTGCA1278354233EDAR,RANBP2c.1249_1252delinsCAGA (p.Gln417=)
c.1345_1348delinsCAGA (p.Gln449=)
c.1396_1399delinsCAGA (p.Gln466=)
c.1300_1303delinsCAGA (p.Gln434=)
c.676_679delinsCAGA (p.Gln226=)
c.1489_1492delinsCAGA (p.Gln497=)
c.1393_1396delinsCAGA (p.Gln465=)
c.8370+123956_8370+123959delinsTCTG (n.8370+123956_8370+123959delinsTCTG)
2g.108897002_108897003insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAACA2522173515EDAR,RANBP2c.1251_1252insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln417_Ile418insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1347_1348insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln449_Ile450insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1398_1399insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln466_Ile467insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1302_1303insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln434_Ile435insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.678_679insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln226_Ile227insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1491_1492insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln497_Ile498insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.1395_1396insTTGGATGAGAGCTTAGCTGAGGACCAGGCGAGCTTGCTTGAGGTCACTCGTTTGATCAGTGATTTGGAAAAGCAAATCGAAGTAGCTAAGTTGCAATCGAGTCAAGCAGCCCATAGTCGCAGGGAAAAT (p.Gln465_Ile466insLeuAspGluSerLeuAlaGluAspGlnAlaSerLeuLeuGluValThrArgLeuIleSerAspLeuGluLysGlnIleGluValAlaLysLeuGlnSerSerGlnAlaAlaHisSerArgArgGluAsn)
c.8370+123956_8370+123957insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAA (n.8370+123956_8370+123957insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAA)
2g.108897003C>ACA348047786EDAR,RANBP2c.1251G>T (p.Gln417His)
c.1347G>T (p.Gln449His)
c.1398G>T (p.Gln466His)
c.1302G>T (p.Gln434His)
c.678G>T (p.Gln226His)
c.1491G>T (p.Gln497His)
c.1395G>T (p.Gln465His)
c.8370+123957C>A (n.8370+123957C>A)
 dbSNP
2g.108897003C=CA1278354234EDAR,RANBP2c.1251G= (p.Gln417=)
c.1347G= (p.Gln449=)
c.1398G= (p.Gln466=)
c.1302G= (p.Gln434=)
c.678G= (p.Gln226=)
c.1491G= (p.Gln497=)
c.1395G= (p.Gln465=)
c.8370+123957C= (n.8370+123957C=)
2g.108897003C>GCA348047788EDAR,RANBP2c.1251G>C (p.Gln417His)
c.1347G>C (p.Gln449His)
c.1398G>C (p.Gln466His)
c.1302G>C (p.Gln434His)
c.678G>C (p.Gln226His)
c.1491G>C (p.Gln497His)
c.1395G>C (p.Gln465His)
c.8370+123957C>G (n.8370+123957C>G)
 COSMIC COSMIC
2g.108897003C>TCA428203942EDAR,RANBP2c.1251G>A (p.Gln417=)
c.1347G>A (p.Gln449=)
c.1398G>A (p.Gln466=)
c.1302G>A (p.Gln434=)
c.678G>A (p.Gln226=)
c.1491G>A (p.Gln497=)
c.1395G>A (p.Gln465=)
c.8370+123957C>T (n.8370+123957C>T)
2g.108897004_108897006delCA1278354235EDAR,RANBP2c.1249_1251del (p.Gln417del)
c.1345_1347del (p.Gln449del)
c.1396_1398del (p.Gln466del)
c.1300_1302del (p.Gln434del)
c.676_678del (p.Gln226del)
c.1489_1491del (p.Gln497del)
c.1393_1395del (p.Gln465del)
c.8370+123958_8370+123960del (n.8370+123958_8370+123960del)
 dbSNP
2g.108897004T>ACA348047790EDAR,RANBP2c.1250A>T (p.Gln417Leu)
c.1346A>T (p.Gln449Leu)
c.1397A>T (p.Gln466Leu)
c.1301A>T (p.Gln434Leu)
c.677A>T (p.Gln226Leu)
c.1490A>T (p.Gln497Leu)
c.1394A>T (p.Gln465Leu)
c.8370+123958T>A (n.8370+123958T>A)
2g.108897004T>CCA348047792EDAR,RANBP2c.1250A>G (p.Gln417Arg)
c.1346A>G (p.Gln449Arg)
c.1397A>G (p.Gln466Arg)
c.1301A>G (p.Gln434Arg)
c.677A>G (p.Gln226Arg)
c.1490A>G (p.Gln497Arg)
c.1394A>G (p.Gln465Arg)
c.8370+123958T>C (n.8370+123958T>C)
2g.108897004T>GCA348047794EDAR,RANBP2c.1250A>C (p.Gln417Pro)
c.1346A>C (p.Gln449Pro)
c.1397A>C (p.Gln466Pro)
c.1301A>C (p.Gln434Pro)
c.677A>C (p.Gln226Pro)
c.1490A>C (p.Gln497Pro)
c.1394A>C (p.Gln465Pro)
c.8370+123958T>G (n.8370+123958T>G)
2g.108897005G>ACA1824796EDAR,RANBP2c.1249C>T (p.Gln417Ter)
c.1345C>T (p.Gln449Ter)
c.1396C>T (p.Gln466Ter)
c.1300C>T (p.Gln434Ter)
c.676C>T (p.Gln226Ter)
c.1489C>T (p.Gln497Ter)
c.1393C>T (p.Gln465Ter)
c.8370+123959G>A (n.8370+123959G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897005G>CCA348047798EDAR,RANBP2c.1249C>G (p.Gln417Glu)
c.1345C>G (p.Gln449Glu)
c.1396C>G (p.Gln466Glu)
c.1300C>G (p.Gln434Glu)
c.676C>G (p.Gln226Glu)
c.1489C>G (p.Gln497Glu)
c.1393C>G (p.Gln465Glu)
c.8370+123959G>C (n.8370+123959G>C)
2g.108897005G=CA1278354236EDAR,RANBP2c.1249C= (p.Gln417=)
c.1345C= (p.Gln449=)
c.1396C= (p.Gln466=)
c.1300C= (p.Gln434=)
c.676C= (p.Gln226=)
c.1489C= (p.Gln497=)
c.1393C= (p.Gln465=)
c.8370+123959G= (n.8370+123959G=)
2g.108897005G>TCA348047796EDAR,RANBP2c.1249C>A (p.Gln417Lys)
c.1345C>A (p.Gln449Lys)
c.1396C>A (p.Gln466Lys)
c.1300C>A (p.Gln434Lys)
c.676C>A (p.Gln226Lys)
c.1489C>A (p.Gln497Lys)
c.1393C>A (p.Gln465Lys)
c.8370+123959G>T (n.8370+123959G>T)
2g.108897006C>ACA428203946EDAR,RANBP2c.1248G>T (p.Val416=)
c.1344G>T (p.Val448=)
c.1395G>T (p.Val465=)
c.1299G>T (p.Val433=)
c.675G>T (p.Val225=)
c.1488G>T (p.Val496=)
c.1392G>T (p.Val464=)
c.8370+123960C>A (n.8370+123960C>A)
2g.108897006C>GCA428203945EDAR,RANBP2c.1248G>C (p.Val416=)
c.1344G>C (p.Val448=)
c.1395G>C (p.Val465=)
c.1299G>C (p.Val433=)
c.675G>C (p.Val225=)
c.1488G>C (p.Val496=)
c.1392G>C (p.Val464=)
c.8370+123960C>G (n.8370+123960C>G)
2g.108897006C>TCA428203944EDAR,RANBP2c.1248G>A (p.Val416=)
c.1344G>A (p.Val448=)
c.1395G>A (p.Val465=)
c.1299G>A (p.Val433=)
c.675G>A (p.Val225=)
c.1488G>A (p.Val496=)
c.1392G>A (p.Val464=)
c.8370+123960C>T (n.8370+123960C>T)
2g.108897007A>CCA348047801EDAR,RANBP2c.1247T>G (p.Val416Gly)
c.1343T>G (p.Val448Gly)
c.1394T>G (p.Val465Gly)
c.1298T>G (p.Val433Gly)
c.674T>G (p.Val225Gly)
c.1487T>G (p.Val496Gly)
c.1391T>G (p.Val464Gly)
c.8370+123961A>C (n.8370+123961A>C)
2g.108897007A>GCA348047804EDAR,RANBP2c.1247T>C (p.Val416Ala)
c.1343T>C (p.Val448Ala)
c.1394T>C (p.Val465Ala)
c.1298T>C (p.Val433Ala)
c.674T>C (p.Val225Ala)
c.1487T>C (p.Val496Ala)
c.1391T>C (p.Val464Ala)
c.8370+123961A>G (n.8370+123961A>G)
2g.108897007A>TCA348047805EDAR,RANBP2c.1247T>A (p.Val416Glu)
c.1343T>A (p.Val448Glu)
c.1394T>A (p.Val465Glu)
c.1298T>A (p.Val433Glu)
c.674T>A (p.Val225Glu)
c.1487T>A (p.Val496Glu)
c.1391T>A (p.Val464Glu)
c.8370+123961A>T (n.8370+123961A>T)
2g.108897008C>ACA348047808EDAR,RANBP2c.1246G>T (p.Val416Leu)
c.1342G>T (p.Val448Leu)
c.1393G>T (p.Val465Leu)
c.1297G>T (p.Val433Leu)
c.673G>T (p.Val225Leu)
c.1486G>T (p.Val496Leu)
c.1390G>T (p.Val464Leu)
c.8370+123962C>A (n.8370+123962C>A)
2g.108897008C=CA1278354237EDAR,RANBP2c.1246G= (p.Val416=)
c.1342G= (p.Val448=)
c.1393G= (p.Val465=)
c.1297G= (p.Val433=)
c.673G= (p.Val225=)
c.1486G= (p.Val496=)
c.1390G= (p.Val464=)
c.8370+123962C= (n.8370+123962C=)
2g.108897008C>GCA348047809EDAR,RANBP2c.1246G>C (p.Val416Leu)
c.1342G>C (p.Val448Leu)
c.1393G>C (p.Val465Leu)
c.1297G>C (p.Val433Leu)
c.673G>C (p.Val225Leu)
c.1486G>C (p.Val496Leu)
c.1390G>C (p.Val464Leu)
c.8370+123962C>G (n.8370+123962C>G)
2g.108897008C>TCA1824797EDAR,RANBP2c.1246G>A (p.Val416Met)
c.1342G>A (p.Val448Met)
c.1393G>A (p.Val465Met)
c.1297G>A (p.Val433Met)
c.673G>A (p.Val225Met)
c.1486G>A (p.Val496Met)
c.1390G>A (p.Val464Met)
c.8370+123962C>T (n.8370+123962C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.108897009C>ACA428203950EDAR,RANBP2c.1245G>T (p.Leu415=)
c.1341G>T (p.Leu447=)
c.1392G>T (p.Leu464=)
c.1296G>T (p.Leu432=)
c.672G>T (p.Leu224=)
c.1485G>T (p.Leu495=)
c.1389G>T (p.Leu463=)
c.8370+123963C>A (n.8370+123963C>A)
2g.108897009C>GCA428203951EDAR,RANBP2c.1245G>C (p.Leu415=)
c.1341G>C (p.Leu447=)
c.1392G>C (p.Leu464=)
c.1296G>C (p.Leu432=)
c.672G>C (p.Leu224=)
c.1485G>C (p.Leu495=)
c.1389G>C (p.Leu463=)
c.8370+123963C>G (n.8370+123963C>G)
2g.108897009C>TCA428203952EDAR,RANBP2c.1245G>A (p.Leu415=)
c.1341G>A (p.Leu447=)
c.1392G>A (p.Leu464=)
c.1296G>A (p.Leu432=)
c.672G>A (p.Leu224=)
c.1485G>A (p.Leu495=)
c.1389G>A (p.Leu463=)
c.8370+123963C>T (n.8370+123963C>T)
2g.108897010A>CCA348047813EDAR,RANBP2c.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)
2g.108897010A>GCA348047817EDAR,RANBP2c.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)
2g.108897010A>TCA348047815EDAR,RANBP2c.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)
2g.108897011G>ACA428203956EDAR,RANBP2c.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)
2g.108897011G>CCA348047819EDAR,RANBP2c.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)
2g.108897011G>TCA348047821EDAR,RANBP2c.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)
2g.108897012T>ACA348047822EDAR,RANBP2c.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)
2g.108897012T>CCA428203957EDAR,RANBP2c.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)
2g.108897012T>GCA348047823EDAR,RANBP2c.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)
2g.108897013T>ACA348047826EDAR,RANBP2c.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)
2g.108897013T>CCA348047828EDAR,RANBP2c.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)
2g.108897013T>GCA348047830EDAR,RANBP2c.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)
2g.108897014T>ACA348047832EDAR,RANBP2c.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)
2g.108897014T>CCA348047834EDAR,RANBP2c.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)
2g.108897014T>GCA348047836EDAR,RANBP2c.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)
2g.108897015T>ACA428203958EDAR,RANBP2c.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)

Number of alleles fetched