Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897000A>C | CA348047773 | EDAR,RANBP2 | c.1254T>G (p.Ile418Met) c.1350T>G (p.Ile450Met) c.1401T>G (p.Ile467Met) c.1305T>G (p.Ile435Met) c.681T>G (p.Ile227Met) c.1494T>G (p.Ile498Met) c.1398T>G (p.Ile466Met) c.8370+123954A>C (n.8370+123954A>C) | |
2 | g.108897000A>G | CA428203939 | EDAR,RANBP2 | c.1254T>C (p.Ile418=) c.1350T>C (p.Ile450=) c.1401T>C (p.Ile467=) c.1305T>C (p.Ile435=) c.681T>C (p.Ile227=) c.1494T>C (p.Ile498=) c.1398T>C (p.Ile466=) c.8370+123954A>G (n.8370+123954A>G) | |
2 | g.108897000A>T | CA428203940 | EDAR,RANBP2 | c.1254T>A (p.Ile418=) c.1350T>A (p.Ile450=) c.1401T>A (p.Ile467=) c.1305T>A (p.Ile435=) c.681T>A (p.Ile227=) c.1494T>A (p.Ile498=) c.1398T>A (p.Ile466=) c.8370+123954A>T (n.8370+123954A>T) | |
2 | g.108897001A= | CA1278354232 | EDAR,RANBP2 | c.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=) | |
2 | g.108897001A>C | CA348047775 | EDAR,RANBP2 | c.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) | |
2 | g.108897001A>G | CA348047777 | EDAR,RANBP2 | c.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 |
2 | g.108897001A>T | CA348047779 | EDAR,RANBP2 | c.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) | |
2 | g.108897002T>A | CA348047782 | EDAR,RANBP2 | c.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) | |
2 | g.108897002T>C | CA348047784 | EDAR,RANBP2 | c.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) | |
2 | g.108897002T>G | CA348047781 | EDAR,RANBP2 | c.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) | |
2 | g.108897002_108897005delinsTCTG | CA1278354233 | EDAR,RANBP2 | c.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) | |
2 | g.108897002_108897003insATTTTCCCTGCGACTATGGGCTGCTTGACTCGATTGCAACTTAGCTACTTCGATTTGCTTTTCCAAATCACTGATCAAACGAGTGACCTCAAGCAAGCTCGCCTGGTCCTCAGCTAAGCTCTCATCCAA | CA2522173515 | EDAR,RANBP2 | c.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) | |
2 | g.108897003C>A | CA348047786 | EDAR,RANBP2 | c.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 |
2 | g.108897003C= | CA1278354234 | EDAR,RANBP2 | c.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=) | |
2 | g.108897003C>G | CA348047788 | EDAR,RANBP2 | c.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 |
2 | g.108897003C>T | CA428203942 | EDAR,RANBP2 | c.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) | |
2 | g.108897004_108897006del | CA1278354235 | EDAR,RANBP2 | c.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 |
2 | g.108897004T>A | CA348047790 | EDAR,RANBP2 | c.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) | |
2 | g.108897004T>C | CA348047792 | EDAR,RANBP2 | c.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) | |
2 | g.108897004T>G | CA348047794 | EDAR,RANBP2 | c.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) | |
2 | g.108897005G>A | CA1824796 | EDAR,RANBP2 | c.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 |
2 | g.108897005G>C | CA348047798 | EDAR,RANBP2 | c.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) | |
2 | g.108897005G= | CA1278354236 | EDAR,RANBP2 | c.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=) | |
2 | g.108897005G>T | CA348047796 | EDAR,RANBP2 | c.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) | |
2 | g.108897006C>A | CA428203946 | EDAR,RANBP2 | c.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) | |
2 | g.108897006C>G | CA428203945 | EDAR,RANBP2 | c.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) | |
2 | g.108897006C>T | CA428203944 | EDAR,RANBP2 | c.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) | |
2 | g.108897007A>C | CA348047801 | EDAR,RANBP2 | c.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) | |
2 | g.108897007A>G | CA348047804 | EDAR,RANBP2 | c.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) | |
2 | g.108897007A>T | CA348047805 | EDAR,RANBP2 | c.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) | |
2 | g.108897008C>A | CA348047808 | EDAR,RANBP2 | c.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) | |
2 | g.108897008C= | CA1278354237 | EDAR,RANBP2 | c.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=) | |
2 | g.108897008C>G | CA348047809 | EDAR,RANBP2 | c.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) | |
2 | g.108897008C>T | CA1824797 | EDAR,RANBP2 | c.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 |
2 | g.108897009C>A | CA428203950 | EDAR,RANBP2 | c.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) | |
2 | g.108897009C>G | CA428203951 | EDAR,RANBP2 | c.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) | |
2 | g.108897009C>T | CA428203952 | EDAR,RANBP2 | c.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) | |
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) |