| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108896995del | CA2660593403 | EDAR,RANBP2 | c.1260del (p.Leu421TrpfsTer?) c.1356del (p.Leu453TrpfsTer?) c.1407del (p.Leu470TrpfsTer?) c.1311del (p.Leu438TrpfsTer?) c.687del (p.Leu230TrpfsTer?) c.1500del (p.Leu501TrpfsTer?) c.1404del (p.Leu469TrpfsTer?) c.8370+123949del (n.8370+123949del) | gnomAD v4 |
| 2 | g.108896995C>A | CA348047752 | EDAR,RANBP2 | c.1259G>T (p.Arg420Leu) c.1355G>T (p.Arg452Leu) c.1406G>T (p.Arg469Leu) c.1310G>T (p.Arg437Leu) c.686G>T (p.Arg229Leu) c.1499G>T (p.Arg500Leu) c.1403G>T (p.Arg468Leu) c.8370+123949C>A (n.8370+123949C>A) | |
| 2 | g.108896995C= | CA1278354230 | EDAR,RANBP2 | c.1259G= (p.Arg420=) c.1355G= (p.Arg452=) c.1406G= (p.Arg469=) c.1310G= (p.Arg437=) c.686G= (p.Arg229=) c.1499G= (p.Arg500=) c.1403G= (p.Arg468=) c.8370+123949C= (n.8370+123949C=) | |
| 2 | g.108896995C>G | CA348047750 | EDAR,RANBP2 | c.1259G>C (p.Arg420Pro) c.1355G>C (p.Arg452Pro) c.1406G>C (p.Arg469Pro) c.1310G>C (p.Arg437Pro) c.686G>C (p.Arg229Pro) c.1499G>C (p.Arg500Pro) c.1403G>C (p.Arg468Pro) c.8370+123949C>G (n.8370+123949C>G) | |
| 2 | g.108896995C>T | CA117810 | EDAR,RANBP2 | c.1259G>A (p.Arg420Gln) c.1355G>A (p.Arg452Gln) c.1406G>A (p.Arg469Gln) c.1310G>A (p.Arg437Gln) c.686G>A (p.Arg229Gln) c.1499G>A (p.Arg500Gln) c.1403G>A (p.Arg468Gln) c.8370+123949C>T (n.8370+123949C>T) | ClinVar dbSNP |
| 2 | g.108896996G>A | CA348047754 | EDAR,RANBP2 | c.1258C>T (p.Arg420Trp) c.1354C>T (p.Arg452Trp) c.1405C>T (p.Arg469Trp) c.1309C>T (p.Arg437Trp) c.685C>T (p.Arg229Trp) c.1498C>T (p.Arg500Trp) c.1402C>T (p.Arg468Trp) c.8370+123950G>A (n.8370+123950G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.108896996G>C | CA348047755 | EDAR,RANBP2 | c.1258C>G (p.Arg420Gly) c.1354C>G (p.Arg452Gly) c.1405C>G (p.Arg469Gly) c.1309C>G (p.Arg437Gly) c.685C>G (p.Arg229Gly) c.1498C>G (p.Arg500Gly) c.1402C>G (p.Arg468Gly) c.8370+123950G>C (n.8370+123950G>C) | |
| 2 | g.108896996G= | CA1278354231 | EDAR,RANBP2 | c.1258C= (p.Arg420=) c.1354C= (p.Arg452=) c.1405C= (p.Arg469=) c.1309C= (p.Arg437=) c.685C= (p.Arg229=) c.1498C= (p.Arg500=) c.1402C= (p.Arg468=) c.8370+123950G= (n.8370+123950G=) | |
| 2 | g.108896996G>T | CA428203936 | EDAR,RANBP2 | c.1258C>A (p.Arg420=) c.1354C>A (p.Arg452=) c.1405C>A (p.Arg469=) c.1309C>A (p.Arg437=) c.685C>A (p.Arg229=) c.1498C>A (p.Arg500=) c.1402C>A (p.Arg468=) c.8370+123950G>T (n.8370+123950G>T) | |
| 2 | g.108896997C>A | CA348047757 | EDAR,RANBP2 | c.1257G>T (p.Glu419Asp) c.1353G>T (p.Glu451Asp) c.1404G>T (p.Glu468Asp) c.1308G>T (p.Glu436Asp) c.684G>T (p.Glu228Asp) c.1497G>T (p.Glu499Asp) c.1401G>T (p.Glu467Asp) c.8370+123951C>A (n.8370+123951C>A) | |
| 2 | g.108896997C>G | CA348047758 | EDAR,RANBP2 | c.1257G>C (p.Glu419Asp) c.1353G>C (p.Glu451Asp) c.1404G>C (p.Glu468Asp) c.1308G>C (p.Glu436Asp) c.684G>C (p.Glu228Asp) c.1497G>C (p.Glu499Asp) c.1401G>C (p.Glu467Asp) c.8370+123951C>G (n.8370+123951C>G) | |
| 2 | g.108896997C>T | CA428203937 | EDAR,RANBP2 | c.1257G>A (p.Glu419=) c.1353G>A (p.Glu451=) c.1404G>A (p.Glu468=) c.1308G>A (p.Glu436=) c.684G>A (p.Glu228=) c.1497G>A (p.Glu499=) c.1401G>A (p.Glu467=) c.8370+123951C>T (n.8370+123951C>T) | gnomAD v4 |
| 2 | g.108896998T>A | CA348047760 | EDAR,RANBP2 | c.1256A>T (p.Glu419Val) c.1352A>T (p.Glu451Val) c.1403A>T (p.Glu468Val) c.1307A>T (p.Glu436Val) c.683A>T (p.Glu228Val) c.1496A>T (p.Glu499Val) c.1400A>T (p.Glu467Val) c.8370+123952T>A (n.8370+123952T>A) | |
| 2 | g.108896998T>C | CA348047762 | EDAR,RANBP2 | c.1256A>G (p.Glu419Gly) c.1352A>G (p.Glu451Gly) c.1403A>G (p.Glu468Gly) c.1307A>G (p.Glu436Gly) c.683A>G (p.Glu228Gly) c.1496A>G (p.Glu499Gly) c.1400A>G (p.Glu467Gly) c.8370+123952T>C (n.8370+123952T>C) | |
| 2 | g.108896998T>G | CA348047764 | EDAR,RANBP2 | c.1256A>C (p.Glu419Ala) c.1352A>C (p.Glu451Ala) c.1403A>C (p.Glu468Ala) c.1307A>C (p.Glu436Ala) c.683A>C (p.Glu228Ala) c.1496A>C (p.Glu499Ala) c.1400A>C (p.Glu467Ala) c.8370+123952T>G (n.8370+123952T>G) | |
| 2 | g.108896999C>A | CA348047767 | EDAR,RANBP2 | c.1255G>T (p.Glu419Ter) c.1351G>T (p.Glu451Ter) c.1402G>T (p.Glu468Ter) c.1306G>T (p.Glu436Ter) c.682G>T (p.Glu228Ter) c.1495G>T (p.Glu499Ter) c.1399G>T (p.Glu467Ter) c.8370+123953C>A (n.8370+123953C>A) | gnomAD v4 |
| 2 | g.108896999C>G | CA348047769 | EDAR,RANBP2 | c.1255G>C (p.Glu419Gln) c.1351G>C (p.Glu451Gln) c.1402G>C (p.Glu468Gln) c.1306G>C (p.Glu436Gln) c.682G>C (p.Glu228Gln) c.1495G>C (p.Glu499Gln) c.1399G>C (p.Glu467Gln) c.8370+123953C>G (n.8370+123953C>G) | |
| 2 | g.108896999C>T | CA348047771 | EDAR,RANBP2 | c.1255G>A (p.Glu419Lys) c.1351G>A (p.Glu451Lys) c.1402G>A (p.Glu468Lys) c.1306G>A (p.Glu436Lys) c.682G>A (p.Glu228Lys) c.1495G>A (p.Glu499Lys) c.1399G>A (p.Glu467Lys) c.8370+123953C>T (n.8370+123953C>T) | |
| 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=) |