Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108896986G>A | CA348047711 | EDAR,RANBP2 | c.1268C>T (p.Ala423Val) c.1364C>T (p.Ala455Val) c.1415C>T (p.Ala472Val) c.1319C>T (p.Ala440Val) c.695C>T (p.Ala232Val) c.1508C>T (p.Ala503Val) c.1412C>T (p.Ala471Val) c.8370+123940G>A (n.8370+123940G>A) | |
2 | g.108896986G>C | CA348047712 | EDAR,RANBP2 | c.1268C>G (p.Ala423Gly) c.1364C>G (p.Ala455Gly) c.1415C>G (p.Ala472Gly) c.1319C>G (p.Ala440Gly) c.695C>G (p.Ala232Gly) c.1508C>G (p.Ala503Gly) c.1412C>G (p.Ala471Gly) c.8370+123940G>C (n.8370+123940G>C) | |
2 | g.108896986G>T | CA348047715 | EDAR,RANBP2 | c.1268C>A (p.Ala423Asp) c.1364C>A (p.Ala455Asp) c.1415C>A (p.Ala472Asp) c.1319C>A (p.Ala440Asp) c.695C>A (p.Ala232Asp) c.1508C>A (p.Ala503Asp) c.1412C>A (p.Ala471Asp) c.8370+123940G>T (n.8370+123940G>T) | |
2 | g.108896987C>A | CA348047721 | EDAR,RANBP2 | c.1267G>T (p.Ala423Ser) c.1363G>T (p.Ala455Ser) c.1414G>T (p.Ala472Ser) c.1318G>T (p.Ala440Ser) c.694G>T (p.Ala232Ser) c.1507G>T (p.Ala503Ser) c.1411G>T (p.Ala471Ser) c.8370+123941C>A (n.8370+123941C>A) | |
2 | g.108896987C>G | CA348047719 | EDAR,RANBP2 | c.1267G>C (p.Ala423Pro) c.1363G>C (p.Ala455Pro) c.1414G>C (p.Ala472Pro) c.1318G>C (p.Ala440Pro) c.694G>C (p.Ala232Pro) c.1507G>C (p.Ala503Pro) c.1411G>C (p.Ala471Pro) c.8370+123941C>G (n.8370+123941C>G) | |
2 | g.108896987C>T | CA348047717 | EDAR,RANBP2 | c.1267G>A (p.Ala423Thr) c.1363G>A (p.Ala455Thr) c.1414G>A (p.Ala472Thr) c.1318G>A (p.Ala440Thr) c.694G>A (p.Ala232Thr) c.1507G>A (p.Ala503Thr) c.1411G>A (p.Ala471Thr) c.8370+123941C>T (n.8370+123941C>T) | ClinVar COSMIC |
2 | g.108896988A>C | CA348047723 | EDAR,RANBP2 | c.1266T>G (p.Asp422Glu) c.1362T>G (p.Asp454Glu) c.1413T>G (p.Asp471Glu) c.1317T>G (p.Asp439Glu) c.693T>G (p.Asp231Glu) c.1506T>G (p.Asp502Glu) c.1410T>G (p.Asp470Glu) c.8370+123942A>C (n.8370+123942A>C) | |
2 | g.108896988A>G | CA428203924 | EDAR,RANBP2 | c.1266T>C (p.Asp422=) c.1362T>C (p.Asp454=) c.1413T>C (p.Asp471=) c.1317T>C (p.Asp439=) c.693T>C (p.Asp231=) c.1506T>C (p.Asp502=) c.1410T>C (p.Asp470=) c.8370+123942A>G (n.8370+123942A>G) | |
2 | g.108896988A>T | CA348047725 | EDAR,RANBP2 | c.1266T>A (p.Asp422Glu) c.1362T>A (p.Asp454Glu) c.1413T>A (p.Asp471Glu) c.1317T>A (p.Asp439Glu) c.693T>A (p.Asp231Glu) c.1506T>A (p.Asp502Glu) c.1410T>A (p.Asp470Glu) c.8370+123942A>T (n.8370+123942A>T) | |
2 | g.108896989T>A | CA348047727 | EDAR,RANBP2 | c.1265A>T (p.Asp422Val) c.1361A>T (p.Asp454Val) c.1412A>T (p.Asp471Val) c.1316A>T (p.Asp439Val) c.692A>T (p.Asp231Val) c.1505A>T (p.Asp502Val) c.1409A>T (p.Asp470Val) c.8370+123943T>A (n.8370+123943T>A) | |
2 | g.108896989T>C | CA348047729 | EDAR,RANBP2 | c.1265A>G (p.Asp422Gly) c.1361A>G (p.Asp454Gly) c.1412A>G (p.Asp471Gly) c.1316A>G (p.Asp439Gly) c.692A>G (p.Asp231Gly) c.1505A>G (p.Asp502Gly) c.1409A>G (p.Asp470Gly) c.8370+123943T>C (n.8370+123943T>C) | |
2 | g.108896989T>G | CA348047731 | EDAR,RANBP2 | c.1265A>C (p.Asp422Ala) c.1361A>C (p.Asp454Ala) c.1412A>C (p.Asp471Ala) c.1316A>C (p.Asp439Ala) c.692A>C (p.Asp231Ala) c.1505A>C (p.Asp502Ala) c.1409A>C (p.Asp470Ala) c.8370+123943T>G (n.8370+123943T>G) | |
2 | g.108896990C>A | CA348047733 | EDAR,RANBP2 | c.1264G>T (p.Asp422Tyr) c.1360G>T (p.Asp454Tyr) c.1411G>T (p.Asp471Tyr) c.1315G>T (p.Asp439Tyr) c.691G>T (p.Asp231Tyr) c.1504G>T (p.Asp502Tyr) c.1408G>T (p.Asp470Tyr) c.8370+123944C>A (n.8370+123944C>A) | ClinVar |
2 | g.108896990C= | CA1278354228 | EDAR,RANBP2 | c.1264G= (p.Asp422=) c.1360G= (p.Asp454=) c.1411G= (p.Asp471=) c.1315G= (p.Asp439=) c.691G= (p.Asp231=) c.1504G= (p.Asp502=) c.1408G= (p.Asp470=) c.8370+123944C= (n.8370+123944C=) | |
2 | g.108896990C>G | CA348047735 | EDAR,RANBP2 | c.1264G>C (p.Asp422His) c.1360G>C (p.Asp454His) c.1411G>C (p.Asp471His) c.1315G>C (p.Asp439His) c.691G>C (p.Asp231His) c.1504G>C (p.Asp502His) c.1408G>C (p.Asp470His) c.8370+123944C>G (n.8370+123944C>G) | |
2 | g.108896990C>T | CA348047737 | EDAR,RANBP2 | c.1264G>A (p.Asp422Asn) c.1360G>A (p.Asp454Asn) c.1411G>A (p.Asp471Asn) c.1315G>A (p.Asp439Asn) c.691G>A (p.Asp231Asn) c.1504G>A (p.Asp502Asn) c.1408G>A (p.Asp470Asn) c.8370+123944C>T (n.8370+123944C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.108896991C>A | CA428203926 | EDAR,RANBP2 | c.1263G>T (p.Leu421=) c.1359G>T (p.Leu453=) c.1410G>T (p.Leu470=) c.1314G>T (p.Leu438=) c.690G>T (p.Leu230=) c.1503G>T (p.Leu501=) c.1407G>T (p.Leu469=) c.8370+123945C>A (n.8370+123945C>A) | |
2 | g.108896991C= | CA1278354229 | EDAR,RANBP2 | c.1263G= (p.Leu421=) c.1359G= (p.Leu453=) c.1410G= (p.Leu470=) c.1314G= (p.Leu438=) c.690G= (p.Leu230=) c.1503G= (p.Leu501=) c.1407G= (p.Leu469=) c.8370+123945C= (n.8370+123945C=) | |
2 | g.108896991C>G | CA428203927 | EDAR,RANBP2 | c.1263G>C (p.Leu421=) c.1359G>C (p.Leu453=) c.1410G>C (p.Leu470=) c.1314G>C (p.Leu438=) c.690G>C (p.Leu230=) c.1503G>C (p.Leu501=) c.1407G>C (p.Leu469=) c.8370+123945C>G (n.8370+123945C>G) | |
2 | g.108896991C>T | CA53464687 | EDAR,RANBP2 | c.1263G>A (p.Leu421=) c.1359G>A (p.Leu453=) c.1410G>A (p.Leu470=) c.1314G>A (p.Leu438=) c.690G>A (p.Leu230=) c.1503G>A (p.Leu501=) c.1407G>A (p.Leu469=) c.8370+123945C>T (n.8370+123945C>T) | dbSNP gnomAD v2 |
2 | g.108896992A>C | CA348047739 | EDAR,RANBP2 | c.1262T>G (p.Leu421Arg) c.1358T>G (p.Leu453Arg) c.1409T>G (p.Leu470Arg) c.1313T>G (p.Leu438Arg) c.689T>G (p.Leu230Arg) c.1502T>G (p.Leu501Arg) c.1406T>G (p.Leu469Arg) c.8370+123946A>C (n.8370+123946A>C) | |
2 | g.108896992A>G | CA348047741 | EDAR,RANBP2 | c.1262T>C (p.Leu421Pro) c.1358T>C (p.Leu453Pro) c.1409T>C (p.Leu470Pro) c.1313T>C (p.Leu438Pro) c.689T>C (p.Leu230Pro) c.1502T>C (p.Leu501Pro) c.1406T>C (p.Leu469Pro) c.8370+123946A>G (n.8370+123946A>G) | |
2 | g.108896992A>T | CA348047743 | EDAR,RANBP2 | c.1262T>A (p.Leu421Gln) c.1358T>A (p.Leu453Gln) c.1409T>A (p.Leu470Gln) c.1313T>A (p.Leu438Gln) c.689T>A (p.Leu230Gln) c.1502T>A (p.Leu501Gln) c.1406T>A (p.Leu469Gln) c.8370+123946A>T (n.8370+123946A>T) | |
2 | g.108896993G>A | CA428203931 | EDAR,RANBP2 | c.1261C>T (p.Leu421=) c.1357C>T (p.Leu453=) c.1408C>T (p.Leu470=) c.1312C>T (p.Leu438=) c.688C>T (p.Leu230=) c.1501C>T (p.Leu501=) c.1405C>T (p.Leu469=) c.8370+123947G>A (n.8370+123947G>A) | |
2 | g.108896993G>C | CA348047745 | EDAR,RANBP2 | c.1261C>G (p.Leu421Val) c.1357C>G (p.Leu453Val) c.1408C>G (p.Leu470Val) c.1312C>G (p.Leu438Val) c.688C>G (p.Leu230Val) c.1501C>G (p.Leu501Val) c.1405C>G (p.Leu469Val) c.8370+123947G>C (n.8370+123947G>C) | |
2 | g.108896993G>T | CA348047747 | EDAR,RANBP2 | c.1261C>A (p.Leu421Met) c.1357C>A (p.Leu453Met) c.1408C>A (p.Leu470Met) c.1312C>A (p.Leu438Met) c.688C>A (p.Leu230Met) c.1501C>A (p.Leu501Met) c.1405C>A (p.Leu469Met) c.8370+123947G>T (n.8370+123947G>T) | gnomAD v4 |
2 | g.108896994C>A | CA428203932 | EDAR,RANBP2 | c.1260G>T (p.Arg420=) c.1356G>T (p.Arg452=) c.1407G>T (p.Arg469=) c.1311G>T (p.Arg437=) c.687G>T (p.Arg229=) c.1500G>T (p.Arg500=) c.1404G>T (p.Arg468=) c.8370+123948C>A (n.8370+123948C>A) | |
2 | g.108896994C>G | CA428203933 | EDAR,RANBP2 | c.1260G>C (p.Arg420=) c.1356G>C (p.Arg452=) c.1407G>C (p.Arg469=) c.1311G>C (p.Arg437=) c.687G>C (p.Arg229=) c.1500G>C (p.Arg500=) c.1404G>C (p.Arg468=) c.8370+123948C>G (n.8370+123948C>G) | |
2 | g.108896994C>T | CA428203934 | EDAR,RANBP2 | c.1260G>A (p.Arg420=) c.1356G>A (p.Arg452=) c.1407G>A (p.Arg469=) c.1311G>A (p.Arg437=) c.687G>A (p.Arg229=) c.1500G>A (p.Arg500=) c.1404G>A (p.Arg468=) c.8370+123948C>T (n.8370+123948C>T) | |
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=) | |
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) | |
2 | g.108897014T>C | CA348047834 | EDAR,RANBP2 | c.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) | |
2 | g.108897014T>G | CA348047836 | EDAR,RANBP2 | c.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) | |
2 | g.108897015T>A | CA428203958 | EDAR,RANBP2 | c.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) | |
2 | g.108897015T>C | CA428203959 | EDAR,RANBP2 | c.1239A>G (p.Thr413=) c.1335A>G (p.Thr445=) c.1386A>G (p.Thr462=) c.1290A>G (p.Thr430=) c.666A>G (p.Thr222=) c.1479A>G (p.Thr493=) c.1383A>G (p.Thr461=) c.8370+123969T>C (n.8370+123969T>C) | |
2 | g.108897015T>G | CA428203960 | EDAR,RANBP2 | c.1239A>C (p.Thr413=) c.1335A>C (p.Thr445=) c.1386A>C (p.Thr462=) c.1290A>C (p.Thr430=) c.666A>C (p.Thr222=) c.1479A>C (p.Thr493=) c.1383A>C (p.Thr461=) c.8370+123969T>G (n.8370+123969T>G) | |
2 | g.108897016G>A | CA348047842 | EDAR,RANBP2 | c.1238C>T (p.Thr413Ile) c.1334C>T (p.Thr445Ile) c.1385C>T (p.Thr462Ile) c.1289C>T (p.Thr430Ile) c.665C>T (p.Thr222Ile) c.1478C>T (p.Thr493Ile) c.1382C>T (p.Thr461Ile) c.8370+123970G>A (n.8370+123970G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108897016G>C | CA348047841 | EDAR,RANBP2 | c.1238C>G (p.Thr413Arg) c.1334C>G (p.Thr445Arg) c.1385C>G (p.Thr462Arg) c.1289C>G (p.Thr430Arg) c.665C>G (p.Thr222Arg) c.1478C>G (p.Thr493Arg) c.1382C>G (p.Thr461Arg) c.8370+123970G>C (n.8370+123970G>C) | |
2 | g.108897016G= | CA1278354238 | EDAR,RANBP2 | c.1238C= (p.Thr413=) c.1334C= (p.Thr445=) c.1385C= (p.Thr462=) c.1289C= (p.Thr430=) c.665C= (p.Thr222=) c.1478C= (p.Thr493=) c.1382C= (p.Thr461=) c.8370+123970G= (n.8370+123970G=) | |
2 | g.108897016G>T | CA348047839 | EDAR,RANBP2 | c.1238C>A (p.Thr413Lys) c.1334C>A (p.Thr445Lys) c.1385C>A (p.Thr462Lys) c.1289C>A (p.Thr430Lys) c.665C>A (p.Thr222Lys) c.1478C>A (p.Thr493Lys) c.1382C>A (p.Thr461Lys) c.8370+123970G>T (n.8370+123970G>T) | gnomAD v4 |
2 | g.108897017T>A | CA348047844 | EDAR,RANBP2 | c.1237A>T (p.Thr413Ser) c.1333A>T (p.Thr445Ser) c.1384A>T (p.Thr462Ser) c.1288A>T (p.Thr430Ser) c.664A>T (p.Thr222Ser) c.1477A>T (p.Thr493Ser) c.1381A>T (p.Thr461Ser) c.8370+123971T>A (n.8370+123971T>A) | |
2 | g.108897017T>C | CA348047848 | EDAR,RANBP2 | c.1237A>G (p.Thr413Ala) c.1333A>G (p.Thr445Ala) c.1384A>G (p.Thr462Ala) c.1288A>G (p.Thr430Ala) c.664A>G (p.Thr222Ala) c.1477A>G (p.Thr493Ala) c.1381A>G (p.Thr461Ala) c.8370+123971T>C (n.8370+123971T>C) | |
2 | g.108897017T>G | CA348047846 | EDAR,RANBP2 | c.1237A>C (p.Thr413Pro) c.1333A>C (p.Thr445Pro) c.1384A>C (p.Thr462Pro) c.1288A>C (p.Thr430Pro) c.664A>C (p.Thr222Pro) c.1477A>C (p.Thr493Pro) c.1381A>C (p.Thr461Pro) c.8370+123971T>G (n.8370+123971T>G) | |
2 | g.108897018G>A | CA428203962 | EDAR,RANBP2 | c.1236C>T (p.Leu412=) c.1332C>T (p.Leu444=) c.1383C>T (p.Leu461=) c.1287C>T (p.Leu429=) c.663C>T (p.Leu221=) c.1476C>T (p.Leu492=) c.1380C>T (p.Leu460=) c.8370+123972G>A (n.8370+123972G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.108897018G>C | CA428203964 | EDAR,RANBP2 | c.1236C>G (p.Leu412=) c.1332C>G (p.Leu444=) c.1383C>G (p.Leu461=) c.1287C>G (p.Leu429=) c.663C>G (p.Leu221=) c.1476C>G (p.Leu492=) c.1380C>G (p.Leu460=) c.8370+123972G>C (n.8370+123972G>C) | |
2 | g.108897018G>T | CA428203963 | EDAR,RANBP2 | c.1236C>A (p.Leu412=) c.1332C>A (p.Leu444=) c.1383C>A (p.Leu461=) c.1287C>A (p.Leu429=) c.663C>A (p.Leu221=) c.1476C>A (p.Leu492=) c.1380C>A (p.Leu460=) c.8370+123972G>T (n.8370+123972G>T) | gnomAD v4 |
2 | g.108897019A>C | CA348047851 | EDAR,RANBP2 | c.1235T>G (p.Leu412Arg) c.1331T>G (p.Leu444Arg) c.1382T>G (p.Leu461Arg) c.1286T>G (p.Leu429Arg) c.662T>G (p.Leu221Arg) c.1475T>G (p.Leu492Arg) c.1379T>G (p.Leu460Arg) c.8370+123973A>C (n.8370+123973A>C) | |
2 | g.108897019A>G | CA348047854 | EDAR,RANBP2 | c.1235T>C (p.Leu412Pro) c.1331T>C (p.Leu444Pro) c.1382T>C (p.Leu461Pro) c.1286T>C (p.Leu429Pro) c.662T>C (p.Leu221Pro) c.1475T>C (p.Leu492Pro) c.1379T>C (p.Leu460Pro) c.8370+123973A>G (n.8370+123973A>G) | |
2 | g.108897019A>T | CA348047852 | EDAR,RANBP2 | c.1235T>A (p.Leu412His) c.1331T>A (p.Leu444His) c.1382T>A (p.Leu461His) c.1286T>A (p.Leu429His) c.662T>A (p.Leu221His) c.1475T>A (p.Leu492His) c.1379T>A (p.Leu460His) c.8370+123973A>T (n.8370+123973A>T) | |
2 | g.108897020G>A | CA348047857 | EDAR,RANBP2 | c.1234C>T (p.Leu412Phe) c.1330C>T (p.Leu444Phe) c.1381C>T (p.Leu461Phe) c.1285C>T (p.Leu429Phe) c.661C>T (p.Leu221Phe) c.1474C>T (p.Leu492Phe) c.1378C>T (p.Leu460Phe) c.8370+123974G>A (n.8370+123974G>A) | |
2 | g.108897020G>C | CA348047859 | EDAR,RANBP2 | c.1234C>G (p.Leu412Val) c.1330C>G (p.Leu444Val) c.1381C>G (p.Leu461Val) c.1285C>G (p.Leu429Val) c.661C>G (p.Leu221Val) c.1474C>G (p.Leu492Val) c.1378C>G (p.Leu460Val) c.8370+123974G>C (n.8370+123974G>C) | gnomAD v4 |
2 | g.108897020G>T | CA348047861 | EDAR,RANBP2 | c.1234C>A (p.Leu412Ile) c.1330C>A (p.Leu444Ile) c.1381C>A (p.Leu461Ile) c.1285C>A (p.Leu429Ile) c.661C>A (p.Leu221Ile) c.1474C>A (p.Leu492Ile) c.1378C>A (p.Leu460Ile) c.8370+123974G>T (n.8370+123974G>T) | |
2 | g.108897021T>A | CA428203966 | EDAR,RANBP2 | c.1233A>T (p.Leu411=) c.1329A>T (p.Leu443=) c.1380A>T (p.Leu460=) c.1284A>T (p.Leu428=) c.660A>T (p.Leu220=) c.1473A>T (p.Leu491=) c.1377A>T (p.Leu459=) c.8370+123975T>A (n.8370+123975T>A) | |
2 | g.108897021T>C | CA428203967 | EDAR,RANBP2 | c.1233A>G (p.Leu411=) c.1329A>G (p.Leu443=) c.1380A>G (p.Leu460=) c.1284A>G (p.Leu428=) c.660A>G (p.Leu220=) c.1473A>G (p.Leu491=) c.1377A>G (p.Leu459=) c.8370+123975T>C (n.8370+123975T>C) | |
2 | g.108897021T>G | CA428203969 | EDAR,RANBP2 | c.1233A>C (p.Leu411=) c.1329A>C (p.Leu443=) c.1380A>C (p.Leu460=) c.1284A>C (p.Leu428=) c.660A>C (p.Leu220=) c.1473A>C (p.Leu491=) c.1377A>C (p.Leu459=) c.8370+123975T>G (n.8370+123975T>G) | |
2 | g.108897022A>C | CA348047864 | EDAR,RANBP2 | c.1232T>G (p.Leu411Arg) c.1328T>G (p.Leu443Arg) c.1379T>G (p.Leu460Arg) c.1283T>G (p.Leu428Arg) c.659T>G (p.Leu220Arg) c.1472T>G (p.Leu491Arg) c.1376T>G (p.Leu459Arg) c.8370+123976A>C (n.8370+123976A>C) | |
2 | g.108897022A>G | CA348047866 | EDAR,RANBP2 | c.1232T>C (p.Leu411Pro) c.1328T>C (p.Leu443Pro) c.1379T>C (p.Leu460Pro) c.1283T>C (p.Leu428Pro) c.659T>C (p.Leu220Pro) c.1472T>C (p.Leu491Pro) c.1376T>C (p.Leu459Pro) c.8370+123976A>G (n.8370+123976A>G) | |
2 | g.108897022A>T | CA348047867 | EDAR,RANBP2 | c.1232T>A (p.Leu411Gln) c.1328T>A (p.Leu443Gln) c.1379T>A (p.Leu460Gln) c.1283T>A (p.Leu428Gln) c.659T>A (p.Leu220Gln) c.1472T>A (p.Leu491Gln) c.1376T>A (p.Leu459Gln) c.8370+123976A>T (n.8370+123976A>T) | |
2 | g.108897023G>A | CA428203974 | EDAR,RANBP2 | c.1231C>T (p.Leu411=) c.1327C>T (p.Leu443=) c.1378C>T (p.Leu460=) c.1282C>T (p.Leu428=) c.658C>T (p.Leu220=) c.1471C>T (p.Leu491=) c.1375C>T (p.Leu459=) c.8370+123977G>A (n.8370+123977G>A) | |
2 | g.108897023G>C | CA348047870 | EDAR,RANBP2 | c.1231C>G (p.Leu411Val) c.1327C>G (p.Leu443Val) c.1378C>G (p.Leu460Val) c.1282C>G (p.Leu428Val) c.658C>G (p.Leu220Val) c.1471C>G (p.Leu491Val) c.1375C>G (p.Leu459Val) c.8370+123977G>C (n.8370+123977G>C) | |
2 | g.108897023G>T | CA348047872 | EDAR,RANBP2 | c.1231C>A (p.Leu411Ile) c.1327C>A (p.Leu443Ile) c.1378C>A (p.Leu460Ile) c.1282C>A (p.Leu428Ile) c.658C>A (p.Leu220Ile) c.1471C>A (p.Leu491Ile) c.1375C>A (p.Leu459Ile) c.8370+123977G>T (n.8370+123977G>T) | |
2 | g.108897024C>A | CA348047874 | EDAR,RANBP2 | c.1230G>T (p.Glu410Asp) c.1326G>T (p.Glu442Asp) c.1377G>T (p.Glu459Asp) c.1281G>T (p.Glu427Asp) c.657G>T (p.Glu219Asp) c.1470G>T (p.Glu490Asp) c.1374G>T (p.Glu458Asp) c.8370+123978C>A (n.8370+123978C>A) | |
2 | g.108897024C= | CA1278354239 | EDAR,RANBP2 | c.1230G= (p.Glu410=) c.1326G= (p.Glu442=) c.1377G= (p.Glu459=) c.1281G= (p.Glu427=) c.657G= (p.Glu219=) c.1470G= (p.Glu490=) c.1374G= (p.Glu458=) c.8370+123978C= (n.8370+123978C=) | |
2 | g.108897024C>G | CA348047876 | EDAR,RANBP2 | c.1230G>C (p.Glu410Asp) c.1326G>C (p.Glu442Asp) c.1377G>C (p.Glu459Asp) c.1281G>C (p.Glu427Asp) c.657G>C (p.Glu219Asp) c.1470G>C (p.Glu490Asp) c.1374G>C (p.Glu458Asp) c.8370+123978C>G (n.8370+123978C>G) | dbSNP gnomAD v4 |
2 | g.108897024C>T | CA1824798 | EDAR,RANBP2 | c.1230G>A (p.Glu410=) c.1326G>A (p.Glu442=) c.1377G>A (p.Glu459=) c.1281G>A (p.Glu427=) c.657G>A (p.Glu219=) c.1470G>A (p.Glu490=) c.1374G>A (p.Glu458=) c.8370+123978C>T (n.8370+123978C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897025T>A | CA348047882 | EDAR,RANBP2 | c.1229A>T (p.Glu410Val) c.1325A>T (p.Glu442Val) c.1376A>T (p.Glu459Val) c.1280A>T (p.Glu427Val) c.656A>T (p.Glu219Val) c.1469A>T (p.Glu490Val) c.1373A>T (p.Glu458Val) c.8370+123979T>A (n.8370+123979T>A) | |
2 | g.108897025T>C | CA16617224 | EDAR,RANBP2 | c.1229A>G (p.Glu410Gly) c.1325A>G (p.Glu442Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.656A>G (p.Glu219Gly) c.1469A>G (p.Glu490Gly) c.1373A>G (p.Glu458Gly) c.8370+123979T>C (n.8370+123979T>C) | ClinVar dbSNP |
2 | g.108897025T>G | CA348047880 | EDAR,RANBP2 | c.1229A>C (p.Glu410Ala) c.1325A>C (p.Glu442Ala) c.1376A>C (p.Glu459Ala) c.1280A>C (p.Glu427Ala) c.656A>C (p.Glu219Ala) c.1469A>C (p.Glu490Ala) c.1373A>C (p.Glu458Ala) c.8370+123979T>G (n.8370+123979T>G) | |
2 | g.108897025T= | CA1278354240 | EDAR,RANBP2 | c.1229A= (p.Glu410=) c.1325A= (p.Glu442=) c.1376A= (p.Glu459=) c.1280A= (p.Glu427=) c.656A= (p.Glu219=) c.1469A= (p.Glu490=) c.1373A= (p.Glu458=) c.8370+123979T= (n.8370+123979T=) | |
2 | g.108897026C>A | CA348047884 | EDAR,RANBP2 | c.1228G>T (p.Glu410Ter) c.1324G>T (p.Glu442Ter) c.1375G>T (p.Glu459Ter) c.1279G>T (p.Glu427Ter) c.655G>T (p.Glu219Ter) c.1468G>T (p.Glu490Ter) c.1372G>T (p.Glu458Ter) c.8370+123980C>A (n.8370+123980C>A) | |
2 | g.108897026C>G | CA348047886 | EDAR,RANBP2 | c.1228G>C (p.Glu410Gln) c.1324G>C (p.Glu442Gln) c.1375G>C (p.Glu459Gln) c.1279G>C (p.Glu427Gln) c.655G>C (p.Glu219Gln) c.1468G>C (p.Glu490Gln) c.1372G>C (p.Glu458Gln) c.8370+123980C>G (n.8370+123980C>G) | |
2 | g.108897026C>T | CA348047888 | EDAR,RANBP2 | c.1228G>A (p.Glu410Lys) c.1324G>A (p.Glu442Lys) c.1375G>A (p.Glu459Lys) c.1279G>A (p.Glu427Lys) c.655G>A (p.Glu219Lys) c.1468G>A (p.Glu490Lys) c.1372G>A (p.Glu458Lys) c.8370+123980C>T (n.8370+123980C>T) | |
2 | g.108897027A= | CA1278354241 | EDAR,RANBP2 | c.1227T= (p.Pro409=) c.1323T= (p.Pro441=) c.1374T= (p.Pro458=) c.1278T= (p.Pro426=) c.654T= (p.Pro218=) c.1467T= (p.Pro489=) c.1371T= (p.Pro457=) c.8370+123981A= (n.8370+123981A=) | |
2 | g.108897027A>C | CA428203988 | EDAR,RANBP2 | c.1227T>G (p.Pro409=) c.1323T>G (p.Pro441=) c.1374T>G (p.Pro458=) c.1278T>G (p.Pro426=) c.654T>G (p.Pro218=) c.1467T>G (p.Pro489=) c.1371T>G (p.Pro457=) c.8370+123981A>C (n.8370+123981A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897027A>G | CA428203983 | EDAR,RANBP2 | c.1227T>C (p.Pro409=) c.1323T>C (p.Pro441=) c.1374T>C (p.Pro458=) c.1278T>C (p.Pro426=) c.654T>C (p.Pro218=) c.1467T>C (p.Pro489=) c.1371T>C (p.Pro457=) c.8370+123981A>G (n.8370+123981A>G) | |
2 | g.108897027A>T | CA428203987 | EDAR,RANBP2 | c.1227T>A (p.Pro409=) c.1323T>A (p.Pro441=) c.1374T>A (p.Pro458=) c.1278T>A (p.Pro426=) c.654T>A (p.Pro218=) c.1467T>A (p.Pro489=) c.1371T>A (p.Pro457=) c.8370+123981A>T (n.8370+123981A>T) | |
2 | g.108897028G>A | CA348047890 | EDAR,RANBP2 | c.1226C>T (p.Pro409Leu) c.1322C>T (p.Pro441Leu) c.1373C>T (p.Pro458Leu) c.1277C>T (p.Pro426Leu) c.653C>T (p.Pro218Leu) c.1466C>T (p.Pro489Leu) c.1370C>T (p.Pro457Leu) c.8370+123982G>A (n.8370+123982G>A) | COSMIC |
2 | g.108897028G>C | CA348047892 | EDAR,RANBP2 | c.1226C>G (p.Pro409Arg) c.1322C>G (p.Pro441Arg) c.1373C>G (p.Pro458Arg) c.1277C>G (p.Pro426Arg) c.653C>G (p.Pro218Arg) c.1466C>G (p.Pro489Arg) c.1370C>G (p.Pro457Arg) c.8370+123982G>C (n.8370+123982G>C) | |
2 | g.108897028G>T | CA348047894 | EDAR,RANBP2 | c.1226C>A (p.Pro409His) c.1322C>A (p.Pro441His) c.1373C>A (p.Pro458His) c.1277C>A (p.Pro426His) c.653C>A (p.Pro218His) c.1466C>A (p.Pro489His) c.1370C>A (p.Pro457His) c.8370+123982G>T (n.8370+123982G>T) | |
2 | g.108897029G>A | CA348047896 | EDAR,RANBP2 | c.1225C>T (p.Pro409Ser) c.1321C>T (p.Pro441Ser) c.1372C>T (p.Pro458Ser) c.1276C>T (p.Pro426Ser) c.652C>T (p.Pro218Ser) c.1465C>T (p.Pro489Ser) c.1369C>T (p.Pro457Ser) c.8370+123983G>A (n.8370+123983G>A) | |
2 | g.108897029G>C | CA348047897 | EDAR,RANBP2 | c.1225C>G (p.Pro409Ala) c.1321C>G (p.Pro441Ala) c.1372C>G (p.Pro458Ala) c.1276C>G (p.Pro426Ala) c.652C>G (p.Pro218Ala) c.1465C>G (p.Pro489Ala) c.1369C>G (p.Pro457Ala) c.8370+123983G>C (n.8370+123983G>C) | |
2 | g.108897029G>T | CA348047900 | EDAR,RANBP2 | c.1225C>A (p.Pro409Thr) c.1321C>A (p.Pro441Thr) c.1372C>A (p.Pro458Thr) c.1276C>A (p.Pro426Thr) c.652C>A (p.Pro218Thr) c.1465C>A (p.Pro489Thr) c.1369C>A (p.Pro457Thr) c.8370+123983G>T (n.8370+123983G>T) | gnomAD v4 |
2 | g.108897030G>A | CA428203996 | EDAR,RANBP2 | c.1224C>T (p.Ile408=) c.1320C>T (p.Ile440=) c.1371C>T (p.Ile457=) c.1275C>T (p.Ile425=) c.651C>T (p.Ile217=) c.1464C>T (p.Ile488=) c.1368C>T (p.Ile456=) c.8370+123984G>A (n.8370+123984G>A) | |
2 | g.108897030G>C | CA348047902 | EDAR,RANBP2 | c.1224C>G (p.Ile408Met) c.1320C>G (p.Ile440Met) c.1371C>G (p.Ile457Met) c.1275C>G (p.Ile425Met) c.651C>G (p.Ile217Met) c.1464C>G (p.Ile488Met) c.1368C>G (p.Ile456Met) c.8370+123984G>C (n.8370+123984G>C) | |
2 | g.108897030G>T | CA428203998 | EDAR,RANBP2 | c.1224C>A (p.Ile408=) c.1320C>A (p.Ile440=) c.1371C>A (p.Ile457=) c.1275C>A (p.Ile425=) c.651C>A (p.Ile217=) c.1464C>A (p.Ile488=) c.1368C>A (p.Ile456=) c.8370+123984G>T (n.8370+123984G>T) | |
2 | g.108897031A>C | CA348047906 | EDAR,RANBP2 | c.1223T>G (p.Ile408Ser) c.1319T>G (p.Ile440Ser) c.1370T>G (p.Ile457Ser) c.1274T>G (p.Ile425Ser) c.650T>G (p.Ile217Ser) c.1463T>G (p.Ile488Ser) c.1367T>G (p.Ile456Ser) c.8370+123985A>C (n.8370+123985A>C) | |
2 | g.108897031A>G | CA348047908 | EDAR,RANBP2 | c.1223T>C (p.Ile408Thr) c.1319T>C (p.Ile440Thr) c.1370T>C (p.Ile457Thr) c.1274T>C (p.Ile425Thr) c.650T>C (p.Ile217Thr) c.1463T>C (p.Ile488Thr) c.1367T>C (p.Ile456Thr) c.8370+123985A>G (n.8370+123985A>G) | |
2 | g.108897031A>T | CA348047905 | EDAR,RANBP2 | c.1223T>A (p.Ile408Asn) c.1319T>A (p.Ile440Asn) c.1370T>A (p.Ile457Asn) c.1274T>A (p.Ile425Asn) c.650T>A (p.Ile217Asn) c.1463T>A (p.Ile488Asn) c.1367T>A (p.Ile456Asn) c.8370+123985A>T (n.8370+123985A>T) | |
2 | g.108897032T>A | CA348047911 | EDAR,RANBP2 | c.1222A>T (p.Ile408Phe) c.1318A>T (p.Ile440Phe) c.1369A>T (p.Ile457Phe) c.1273A>T (p.Ile425Phe) c.649A>T (p.Ile217Phe) c.1462A>T (p.Ile488Phe) c.1366A>T (p.Ile456Phe) c.8370+123986T>A (n.8370+123986T>A) | |
2 | g.108897032T>C | CA348047912 | EDAR,RANBP2 | c.1222A>G (p.Ile408Val) c.1318A>G (p.Ile440Val) c.1369A>G (p.Ile457Val) c.1273A>G (p.Ile425Val) c.649A>G (p.Ile217Val) c.1462A>G (p.Ile488Val) c.1366A>G (p.Ile456Val) c.8370+123986T>C (n.8370+123986T>C) | |
2 | g.108897032T>G | CA348047913 | EDAR,RANBP2 | c.1222A>C (p.Ile408Leu) c.1318A>C (p.Ile440Leu) c.1369A>C (p.Ile457Leu) c.1273A>C (p.Ile425Leu) c.649A>C (p.Ile217Leu) c.1462A>C (p.Ile488Leu) c.1366A>C (p.Ile456Leu) c.8370+123986T>G (n.8370+123986T>G) | |
2 | g.108897033del | CA2740095681 | EDAR,RANBP2 | c.1221del (p.Ser407ArgfsTer?) c.1317del (p.Ser439ArgfsTer?) c.1368del (p.Ser456ArgfsTer?) c.1272del (p.Ser424ArgfsTer?) c.648del (p.Ser216ArgfsTer?) c.1461del (p.Ser487ArgfsTer?) c.1365del (p.Ser455ArgfsTer?) c.8370+123987del (n.8370+123987del) | ClinVar |
2 | g.108897033G>A | CA428204006 | EDAR,RANBP2 | c.1221C>T (p.Ser407=) c.1317C>T (p.Ser439=) c.1368C>T (p.Ser456=) c.1272C>T (p.Ser424=) c.648C>T (p.Ser216=) c.1461C>T (p.Ser487=) c.1365C>T (p.Ser455=) c.8370+123987G>A (n.8370+123987G>A) | |
2 | g.108897033G>C | CA348047915 | EDAR,RANBP2 | c.1221C>G (p.Ser407Arg) c.1317C>G (p.Ser439Arg) c.1368C>G (p.Ser456Arg) c.1272C>G (p.Ser424Arg) c.648C>G (p.Ser216Arg) c.1461C>G (p.Ser487Arg) c.1365C>G (p.Ser455Arg) c.8370+123987G>C (n.8370+123987G>C) | |
2 | g.108897033G>T | CA348047917 | EDAR,RANBP2 | c.1221C>A (p.Ser407Arg) c.1317C>A (p.Ser439Arg) c.1368C>A (p.Ser456Arg) c.1272C>A (p.Ser424Arg) c.648C>A (p.Ser216Arg) c.1461C>A (p.Ser487Arg) c.1365C>A (p.Ser455Arg) c.8370+123987G>T (n.8370+123987G>T) | |
2 | g.108897034C>A | CA348047924 | EDAR,RANBP2 | c.1220G>T (p.Ser407Ile) c.1316G>T (p.Ser439Ile) c.1367G>T (p.Ser456Ile) c.1271G>T (p.Ser424Ile) c.647G>T (p.Ser216Ile) c.1460G>T (p.Ser487Ile) c.1364G>T (p.Ser455Ile) c.8370+123988C>A (n.8370+123988C>A) | COSMIC COSMIC |
2 | g.108897034C>G | CA348047920 | EDAR,RANBP2 | c.1220G>C (p.Ser407Thr) c.1316G>C (p.Ser439Thr) c.1367G>C (p.Ser456Thr) c.1271G>C (p.Ser424Thr) c.647G>C (p.Ser216Thr) c.1460G>C (p.Ser487Thr) c.1364G>C (p.Ser455Thr) c.8370+123988C>G (n.8370+123988C>G) | |
2 | g.108897034C>T | CA348047921 | EDAR,RANBP2 | c.1220G>A (p.Ser407Asn) c.1316G>A (p.Ser439Asn) c.1367G>A (p.Ser456Asn) c.1271G>A (p.Ser424Asn) c.647G>A (p.Ser216Asn) c.1460G>A (p.Ser487Asn) c.1364G>A (p.Ser455Asn) c.8370+123988C>T (n.8370+123988C>T) | |
2 | g.108897035T>A | CA348047927 | EDAR,RANBP2 | c.1219A>T (p.Ser407Cys) c.1315A>T (p.Ser439Cys) c.1366A>T (p.Ser456Cys) c.1270A>T (p.Ser424Cys) c.646A>T (p.Ser216Cys) c.1459A>T (p.Ser487Cys) c.1363A>T (p.Ser455Cys) c.8370+123989T>A (n.8370+123989T>A) | |
2 | g.108897035T>C | CA348047929 | EDAR,RANBP2 | c.1219A>G (p.Ser407Gly) c.1315A>G (p.Ser439Gly) c.1366A>G (p.Ser456Gly) c.1270A>G (p.Ser424Gly) c.646A>G (p.Ser216Gly) c.1459A>G (p.Ser487Gly) c.1363A>G (p.Ser455Gly) c.8370+123989T>C (n.8370+123989T>C) | |
2 | g.108897035T>G | CA348047931 | EDAR,RANBP2 | c.1219A>C (p.Ser407Arg) c.1315A>C (p.Ser439Arg) c.1366A>C (p.Ser456Arg) c.1270A>C (p.Ser424Arg) c.646A>C (p.Ser216Arg) c.1459A>C (p.Ser487Arg) c.1363A>C (p.Ser455Arg) c.8370+123989T>G (n.8370+123989T>G) | |
2 | g.108897036G>A | CA428204012 | EDAR,RANBP2 | c.1218C>T (p.Tyr406=) c.1314C>T (p.Tyr438=) c.1365C>T (p.Tyr455=) c.1269C>T (p.Tyr423=) c.645C>T (p.Tyr215=) c.1458C>T (p.Tyr486=) c.1362C>T (p.Tyr454=) c.8370+123990G>A (n.8370+123990G>A) | gnomAD v4 |
2 | g.108897036G>C | CA348047933 | EDAR,RANBP2 | c.1218C>G (p.Tyr406Ter) c.1314C>G (p.Tyr438Ter) c.1365C>G (p.Tyr455Ter) c.1269C>G (p.Tyr423Ter) c.645C>G (p.Tyr215Ter) c.1458C>G (p.Tyr486Ter) c.1362C>G (p.Tyr454Ter) c.8370+123990G>C (n.8370+123990G>C) | ClinVar |
2 | g.108897036G>T | CA348047935 | EDAR,RANBP2 | c.1218C>A (p.Tyr406Ter) c.1314C>A (p.Tyr438Ter) c.1365C>A (p.Tyr455Ter) c.1269C>A (p.Tyr423Ter) c.645C>A (p.Tyr215Ter) c.1458C>A (p.Tyr486Ter) c.1362C>A (p.Tyr454Ter) c.8370+123990G>T (n.8370+123990G>T) | |
2 | g.108897037T>A | CA348047938 | EDAR,RANBP2 | c.1217A>T (p.Tyr406Phe) c.1313A>T (p.Tyr438Phe) c.1364A>T (p.Tyr455Phe) c.1268A>T (p.Tyr423Phe) c.644A>T (p.Tyr215Phe) c.1457A>T (p.Tyr486Phe) c.1361A>T (p.Tyr454Phe) c.8370+123991T>A (n.8370+123991T>A) | |
2 | g.108897037T>C | CA348047941 | EDAR,RANBP2 | c.1217A>G (p.Tyr406Cys) c.1313A>G (p.Tyr438Cys) c.1364A>G (p.Tyr455Cys) c.1268A>G (p.Tyr423Cys) c.644A>G (p.Tyr215Cys) c.1457A>G (p.Tyr486Cys) c.1361A>G (p.Tyr454Cys) c.8370+123991T>C (n.8370+123991T>C) | |
2 | g.108897037T>G | CA348047940 | EDAR,RANBP2 | c.1217A>C (p.Tyr406Ser) c.1313A>C (p.Tyr438Ser) c.1364A>C (p.Tyr455Ser) c.1268A>C (p.Tyr423Ser) c.644A>C (p.Tyr215Ser) c.1457A>C (p.Tyr486Ser) c.1361A>C (p.Tyr454Ser) c.8370+123991T>G (n.8370+123991T>G) | |
2 | g.108897038A>C | CA348047943 | EDAR,RANBP2 | c.1216T>G (p.Tyr406Asp) c.1312T>G (p.Tyr438Asp) c.1363T>G (p.Tyr455Asp) c.1267T>G (p.Tyr423Asp) c.643T>G (p.Tyr215Asp) c.1456T>G (p.Tyr486Asp) c.1360T>G (p.Tyr454Asp) c.8370+123992A>C (n.8370+123992A>C) | |
2 | g.108897038A>G | CA348047945 | EDAR,RANBP2 | c.1216T>C (p.Tyr406His) c.1312T>C (p.Tyr438His) c.1363T>C (p.Tyr455His) c.1267T>C (p.Tyr423His) c.643T>C (p.Tyr215His) c.1456T>C (p.Tyr486His) c.1360T>C (p.Tyr454His) c.8370+123992A>G (n.8370+123992A>G) | |
2 | g.108897038A>T | CA348047947 | EDAR,RANBP2 | c.1216T>A (p.Tyr406Asn) c.1312T>A (p.Tyr438Asn) c.1363T>A (p.Tyr455Asn) c.1267T>A (p.Tyr423Asn) c.643T>A (p.Tyr215Asn) c.1456T>A (p.Tyr486Asn) c.1360T>A (p.Tyr454Asn) c.8370+123992A>T (n.8370+123992A>T) | |
2 | g.108897039G>A | CA428204018 | EDAR,RANBP2 | c.1215C>T (p.Gly405=) c.1311C>T (p.Gly437=) c.1362C>T (p.Gly454=) c.1266C>T (p.Gly422=) c.642C>T (p.Gly214=) c.1455C>T (p.Gly485=) c.1359C>T (p.Gly453=) c.8370+123993G>A (n.8370+123993G>A) | |
2 | g.108897039G>C | CA428204019 | EDAR,RANBP2 | c.1215C>G (p.Gly405=) c.1311C>G (p.Gly437=) c.1362C>G (p.Gly454=) c.1266C>G (p.Gly422=) c.642C>G (p.Gly214=) c.1455C>G (p.Gly485=) c.1359C>G (p.Gly453=) c.8370+123993G>C (n.8370+123993G>C) | dbSNP |
2 | g.108897039G= | CA1278354242 | EDAR,RANBP2 | c.1215C= (p.Gly405=) c.1311C= (p.Gly437=) c.1362C= (p.Gly454=) c.1266C= (p.Gly422=) c.642C= (p.Gly214=) c.1455C= (p.Gly485=) c.1359C= (p.Gly453=) c.8370+123993G= (n.8370+123993G=) | |
2 | g.108897039G>T | CA428204020 | EDAR,RANBP2 | c.1215C>A (p.Gly405=) c.1311C>A (p.Gly437=) c.1362C>A (p.Gly454=) c.1266C>A (p.Gly422=) c.642C>A (p.Gly214=) c.1455C>A (p.Gly485=) c.1359C>A (p.Gly453=) c.8370+123993G>T (n.8370+123993G>T) | |
2 | g.108897040C>A | CA348047949 | EDAR,RANBP2 | c.1214G>T (p.Gly405Val) c.1310G>T (p.Gly437Val) c.1361G>T (p.Gly454Val) c.1265G>T (p.Gly422Val) c.641G>T (p.Gly214Val) c.1454G>T (p.Gly485Val) c.1358G>T (p.Gly453Val) c.8370+123994C>A (n.8370+123994C>A) | |
2 | g.108897040C= | CA1278354243 | EDAR,RANBP2 | c.1214G= (p.Gly405=) c.1310G= (p.Gly437=) c.1361G= (p.Gly454=) c.1265G= (p.Gly422=) c.641G= (p.Gly214=) c.1454G= (p.Gly485=) c.1358G= (p.Gly453=) c.8370+123994C= (n.8370+123994C=) | |
2 | g.108897040C>G | CA348047951 | EDAR,RANBP2 | c.1214G>C (p.Gly405Ala) c.1310G>C (p.Gly437Ala) c.1361G>C (p.Gly454Ala) c.1265G>C (p.Gly422Ala) c.641G>C (p.Gly214Ala) c.1454G>C (p.Gly485Ala) c.1358G>C (p.Gly453Ala) c.8370+123994C>G (n.8370+123994C>G) | ClinVar dbSNP |
2 | g.108897040C>T | CA348047953 | EDAR,RANBP2 | c.1214G>A (p.Gly405Asp) c.1310G>A (p.Gly437Asp) c.1361G>A (p.Gly454Asp) c.1265G>A (p.Gly422Asp) c.641G>A (p.Gly214Asp) c.1454G>A (p.Gly485Asp) c.1358G>A (p.Gly453Asp) c.8370+123994C>T (n.8370+123994C>T) | ClinVar dbSNP |
2 | g.108897041C>A | CA348047955 | EDAR,RANBP2 | c.1213G>T (p.Gly405Cys) c.1309G>T (p.Gly437Cys) c.1360G>T (p.Gly454Cys) c.1264G>T (p.Gly422Cys) c.640G>T (p.Gly214Cys) c.1453G>T (p.Gly485Cys) c.1357G>T (p.Gly453Cys) c.8370+123995C>A (n.8370+123995C>A) | |
2 | g.108897041C= | CA1278354244 | EDAR,RANBP2 | c.1213G= (p.Gly405=) c.1309G= (p.Gly437=) c.1360G= (p.Gly454=) c.1264G= (p.Gly422=) c.640G= (p.Gly214=) c.1453G= (p.Gly485=) c.1357G= (p.Gly453=) c.8370+123995C= (n.8370+123995C=) | |
2 | g.108897041C>G | CA348047957 | EDAR,RANBP2 | c.1213G>C (p.Gly405Arg) c.1309G>C (p.Gly437Arg) c.1360G>C (p.Gly454Arg) c.1264G>C (p.Gly422Arg) c.640G>C (p.Gly214Arg) c.1453G>C (p.Gly485Arg) c.1357G>C (p.Gly453Arg) c.8370+123995C>G (n.8370+123995C>G) | ClinVar dbSNP |
2 | g.108897041C>T | CA348047959 | EDAR,RANBP2 | c.1213G>A (p.Gly405Ser) c.1309G>A (p.Gly437Ser) c.1360G>A (p.Gly454Ser) c.1264G>A (p.Gly422Ser) c.640G>A (p.Gly214Ser) c.1453G>A (p.Gly485Ser) c.1357G>A (p.Gly453Ser) c.8370+123995C>T (n.8370+123995C>T) | |
2 | g.108897042T>A | CA428204024 | EDAR,RANBP2 | c.1212A>T (p.Ala404=) c.1308A>T (p.Ala436=) c.1359A>T (p.Ala453=) c.1263A>T (p.Ala421=) c.639A>T (p.Ala213=) c.1452A>T (p.Ala484=) c.1356A>T (p.Ala452=) c.8370+123996T>A (n.8370+123996T>A) | |
2 | g.108897042T>C | CA428204025 | EDAR,RANBP2 | c.1212A>G (p.Ala404=) c.1308A>G (p.Ala436=) c.1359A>G (p.Ala453=) c.1263A>G (p.Ala421=) c.639A>G (p.Ala213=) c.1452A>G (p.Ala484=) c.1356A>G (p.Ala452=) c.8370+123996T>C (n.8370+123996T>C) | dbSNP gnomAD v4 |
2 | g.108897042T>G | CA428204027 | EDAR,RANBP2 | c.1212A>C (p.Ala404=) c.1308A>C (p.Ala436=) c.1359A>C (p.Ala453=) c.1263A>C (p.Ala421=) c.639A>C (p.Ala213=) c.1452A>C (p.Ala484=) c.1356A>C (p.Ala452=) c.8370+123996T>G (n.8370+123996T>G) | |
2 | g.108897042T= | CA1278354245 | EDAR,RANBP2 | c.1212A= (p.Ala404=) c.1308A= (p.Ala436=) c.1359A= (p.Ala453=) c.1263A= (p.Ala421=) c.639A= (p.Ala213=) c.1452A= (p.Ala484=) c.1356A= (p.Ala452=) c.8370+123996T= (n.8370+123996T=) | |
2 | g.108897043G>A | CA348047962 | EDAR,RANBP2 | c.1211C>T (p.Ala404Val) c.1307C>T (p.Ala436Val) c.1358C>T (p.Ala453Val) c.1262C>T (p.Ala421Val) c.638C>T (p.Ala213Val) c.1451C>T (p.Ala484Val) c.1355C>T (p.Ala452Val) c.8370+123997G>A (n.8370+123997G>A) | |
2 | g.108897043G>C | CA348047963 | EDAR,RANBP2 | c.1211C>G (p.Ala404Gly) c.1307C>G (p.Ala436Gly) c.1358C>G (p.Ala453Gly) c.1262C>G (p.Ala421Gly) c.638C>G (p.Ala213Gly) c.1451C>G (p.Ala484Gly) c.1355C>G (p.Ala452Gly) c.8370+123997G>C (n.8370+123997G>C) | |
2 | g.108897043G>T | CA348047965 | EDAR,RANBP2 | c.1211C>A (p.Ala404Glu) c.1307C>A (p.Ala436Glu) c.1358C>A (p.Ala453Glu) c.1262C>A (p.Ala421Glu) c.638C>A (p.Ala213Glu) c.1451C>A (p.Ala484Glu) c.1355C>A (p.Ala452Glu) c.8370+123997G>T (n.8370+123997G>T) | |
2 | g.108897044C>A | CA348047971 | EDAR,RANBP2 | c.1210G>T (p.Ala404Ser) c.1306G>T (p.Ala436Ser) c.1357G>T (p.Ala453Ser) c.1261G>T (p.Ala421Ser) c.637G>T (p.Ala213Ser) c.1450G>T (p.Ala484Ser) c.1354G>T (p.Ala452Ser) c.8370+123998C>A (n.8370+123998C>A) | |
2 | g.108897044C>G | CA348047969 | EDAR,RANBP2 | c.1210G>C (p.Ala404Pro) c.1306G>C (p.Ala436Pro) c.1357G>C (p.Ala453Pro) c.1261G>C (p.Ala421Pro) c.637G>C (p.Ala213Pro) c.1450G>C (p.Ala484Pro) c.1354G>C (p.Ala452Pro) c.8370+123998C>G (n.8370+123998C>G) | |
2 | g.108897044C>T | CA348047967 | EDAR,RANBP2 | c.1210G>A (p.Ala404Thr) c.1306G>A (p.Ala436Thr) c.1357G>A (p.Ala453Thr) c.1261G>A (p.Ala421Thr) c.637G>A (p.Ala213Thr) c.1450G>A (p.Ala484Thr) c.1354G>A (p.Ala452Thr) c.8370+123998C>T (n.8370+123998C>T) | gnomAD v4 COSMIC COSMIC |
2 | g.108897045dup | CA2839650000 | EDAR,RANBP2 | c.1210dup (p.Ala404GlyfsTer7) c.1306dup (p.Ala436GlyfsTer7) c.1357dup (p.Ala453GlyfsTer7) c.1261dup (p.Ala421GlyfsTer7) c.637dup (p.Ala213GlyfsTer7) c.1450dup (p.Ala484GlyfsTer7) c.1354dup (p.Ala452GlyfsTer7) c.8370+123999dup (n.8370+123999dup) | |
2 | g.108897045C>A | CA428204033 | EDAR,RANBP2 | c.1209G>T (p.Thr403=) c.1305G>T (p.Thr435=) c.1356G>T (p.Thr452=) c.1260G>T (p.Thr420=) c.636G>T (p.Thr212=) c.1449G>T (p.Thr483=) c.1353G>T (p.Thr451=) c.8370+123999C>A (n.8370+123999C>A) | |
2 | g.108897045C= | CA1278354246 | EDAR,RANBP2 | c.1209G= (p.Thr403=) c.1305G= (p.Thr435=) c.1356G= (p.Thr452=) c.1260G= (p.Thr420=) c.636G= (p.Thr212=) c.1449G= (p.Thr483=) c.1353G= (p.Thr451=) c.8370+123999C= (n.8370+123999C=) | |
2 | g.108897045C>G | CA428204034 | EDAR,RANBP2 | c.1209G>C (p.Thr403=) c.1305G>C (p.Thr435=) c.1356G>C (p.Thr452=) c.1260G>C (p.Thr420=) c.636G>C (p.Thr212=) c.1449G>C (p.Thr483=) c.1353G>C (p.Thr451=) c.8370+123999C>G (n.8370+123999C>G) | gnomAD v4 |
2 | g.108897045C>T | CA1824799 | EDAR,RANBP2 | c.1209G>A (p.Thr403=) c.1305G>A (p.Thr435=) c.1356G>A (p.Thr452=) c.1260G>A (p.Thr420=) c.636G>A (p.Thr212=) c.1449G>A (p.Thr483=) c.1353G>A (p.Thr451=) c.8370+123999C>T (n.8370+123999C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897046G>A | CA348047975 | EDAR,RANBP2 | c.1208C>T (p.Thr403Met) c.1304C>T (p.Thr435Met) c.1355C>T (p.Thr452Met) c.1259C>T (p.Thr420Met) c.635C>T (p.Thr212Met) c.1448C>T (p.Thr483Met) c.1352C>T (p.Thr451Met) c.8370+124000G>A (n.8370+124000G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.108897046G>C | CA348047979 | EDAR,RANBP2 | c.1208C>G (p.Thr403Arg) c.1304C>G (p.Thr435Arg) c.1355C>G (p.Thr452Arg) c.1259C>G (p.Thr420Arg) c.635C>G (p.Thr212Arg) c.1448C>G (p.Thr483Arg) c.1352C>G (p.Thr451Arg) c.8370+124000G>C (n.8370+124000G>C) | ClinVar |
2 | g.108897046G= | CA1278354247 | EDAR,RANBP2 | c.1208C= (p.Thr403=) c.1304C= (p.Thr435=) c.1355C= (p.Thr452=) c.1259C= (p.Thr420=) c.635C= (p.Thr212=) c.1448C= (p.Thr483=) c.1352C= (p.Thr451=) c.8370+124000G= (n.8370+124000G=) | |
2 | g.108897046G>T | CA348047977 | EDAR,RANBP2 | c.1208C>A (p.Thr403Lys) c.1304C>A (p.Thr435Lys) c.1355C>A (p.Thr452Lys) c.1259C>A (p.Thr420Lys) c.635C>A (p.Thr212Lys) c.1448C>A (p.Thr483Lys) c.1352C>A (p.Thr451Lys) c.8370+124000G>T (n.8370+124000G>T) | |
2 | g.108897047T>A | CA348047982 | EDAR,RANBP2 | c.1207A>T (p.Thr403Ser) c.1303A>T (p.Thr435Ser) c.1354A>T (p.Thr452Ser) c.1258A>T (p.Thr420Ser) c.634A>T (p.Thr212Ser) c.1447A>T (p.Thr483Ser) c.1351A>T (p.Thr451Ser) c.8370+124001T>A (n.8370+124001T>A) | |
2 | g.108897047T>C | CA348047984 | EDAR,RANBP2 | c.1207A>G (p.Thr403Ala) c.1303A>G (p.Thr435Ala) c.1354A>G (p.Thr452Ala) c.1258A>G (p.Thr420Ala) c.634A>G (p.Thr212Ala) c.1447A>G (p.Thr483Ala) c.1351A>G (p.Thr451Ala) c.8370+124001T>C (n.8370+124001T>C) | |
2 | g.108897047T>G | CA348047986 | EDAR,RANBP2 | c.1207A>C (p.Thr403Pro) c.1303A>C (p.Thr435Pro) c.1354A>C (p.Thr452Pro) c.1258A>C (p.Thr420Pro) c.634A>C (p.Thr212Pro) c.1447A>C (p.Thr483Pro) c.1351A>C (p.Thr451Pro) c.8370+124001T>G (n.8370+124001T>G) | |
2 | g.108897048G>A | CA428204043 | EDAR,RANBP2 | c.1206C>T (p.Ser402=) c.1302C>T (p.Ser434=) c.1353C>T (p.Ser451=) c.1257C>T (p.Ser419=) c.633C>T (p.Ser211=) c.1446C>T (p.Ser482=) c.1350C>T (p.Ser450=) c.8370+124002G>A (n.8370+124002G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897048G>C | CA348047987 | EDAR,RANBP2 | c.1206C>G (p.Ser402Arg) c.1302C>G (p.Ser434Arg) c.1353C>G (p.Ser451Arg) c.1257C>G (p.Ser419Arg) c.633C>G (p.Ser211Arg) c.1446C>G (p.Ser482Arg) c.1350C>G (p.Ser450Arg) c.8370+124002G>C (n.8370+124002G>C) | |
2 | g.108897048G= | CA1278354248 | EDAR,RANBP2 | c.1206C= (p.Ser402=) c.1302C= (p.Ser434=) c.1353C= (p.Ser451=) c.1257C= (p.Ser419=) c.633C= (p.Ser211=) c.1446C= (p.Ser482=) c.1350C= (p.Ser450=) c.8370+124002G= (n.8370+124002G=) | |
2 | g.108897048G>T | CA348047989 | EDAR,RANBP2 | c.1206C>A (p.Ser402Arg) c.1302C>A (p.Ser434Arg) c.1353C>A (p.Ser451Arg) c.1257C>A (p.Ser419Arg) c.633C>A (p.Ser211Arg) c.1446C>A (p.Ser482Arg) c.1350C>A (p.Ser450Arg) c.8370+124002G>T (n.8370+124002G>T) | |
2 | g.108897049C>A | CA348047991 | EDAR,RANBP2 | c.1205G>T (p.Ser402Ile) c.1301G>T (p.Ser434Ile) c.1352G>T (p.Ser451Ile) c.1256G>T (p.Ser419Ile) c.632G>T (p.Ser211Ile) c.1445G>T (p.Ser482Ile) c.1349G>T (p.Ser450Ile) c.8370+124003C>A (n.8370+124003C>A) | |
2 | g.108897049C= | CA1278354249 | EDAR,RANBP2 | c.1205G= (p.Ser402=) c.1301G= (p.Ser434=) c.1352G= (p.Ser451=) c.1256G= (p.Ser419=) c.632G= (p.Ser211=) c.1445G= (p.Ser482=) c.1349G= (p.Ser450=) c.8370+124003C= (n.8370+124003C=) | |
2 | g.108897049C>G | CA348047993 | EDAR,RANBP2 | c.1205G>C (p.Ser402Thr) c.1301G>C (p.Ser434Thr) c.1352G>C (p.Ser451Thr) c.1256G>C (p.Ser419Thr) c.632G>C (p.Ser211Thr) c.1445G>C (p.Ser482Thr) c.1349G>C (p.Ser450Thr) c.8370+124003C>G (n.8370+124003C>G) | |
2 | g.108897049C>T | CA348047994 | EDAR,RANBP2 | c.1205G>A (p.Ser402Asn) c.1301G>A (p.Ser434Asn) c.1352G>A (p.Ser451Asn) c.1256G>A (p.Ser419Asn) c.632G>A (p.Ser211Asn) c.1445G>A (p.Ser482Asn) c.1349G>A (p.Ser450Asn) c.8370+124003C>T (n.8370+124003C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897050T>A | CA348047995 | EDAR,RANBP2 | c.1204A>T (p.Ser402Cys) c.1300A>T (p.Ser434Cys) c.1351A>T (p.Ser451Cys) c.1255A>T (p.Ser419Cys) c.631A>T (p.Ser211Cys) c.1444A>T (p.Ser482Cys) c.1348A>T (p.Ser450Cys) c.8370+124004T>A (n.8370+124004T>A) | |
2 | g.108897050T>C | CA348047996 | EDAR,RANBP2 | c.1204A>G (p.Ser402Gly) c.1300A>G (p.Ser434Gly) c.1351A>G (p.Ser451Gly) c.1255A>G (p.Ser419Gly) c.631A>G (p.Ser211Gly) c.1444A>G (p.Ser482Gly) c.1348A>G (p.Ser450Gly) c.8370+124004T>C (n.8370+124004T>C) | |
2 | g.108897050T>G | CA348047997 | EDAR,RANBP2 | c.1204A>C (p.Ser402Arg) c.1300A>C (p.Ser434Arg) c.1351A>C (p.Ser451Arg) c.1255A>C (p.Ser419Arg) c.631A>C (p.Ser211Arg) c.1444A>C (p.Ser482Arg) c.1348A>C (p.Ser450Arg) c.8370+124004T>G (n.8370+124004T>G) | |
2 | g.108897051G>A | CA428204054 | EDAR,RANBP2 | c.1203C>T (p.Ile401=) c.1299C>T (p.Ile433=) c.1350C>T (p.Ile450=) c.1254C>T (p.Ile418=) c.630C>T (p.Ile210=) c.1443C>T (p.Ile481=) c.1347C>T (p.Ile449=) c.8370+124005G>A (n.8370+124005G>A) | gnomAD v4 |
2 | g.108897051G>C | CA348047998 | EDAR,RANBP2 | c.1203C>G (p.Ile401Met) c.1299C>G (p.Ile433Met) c.1350C>G (p.Ile450Met) c.1254C>G (p.Ile418Met) c.630C>G (p.Ile210Met) c.1443C>G (p.Ile481Met) c.1347C>G (p.Ile449Met) c.8370+124005G>C (n.8370+124005G>C) | |
2 | g.108897051G>T | CA428204055 | EDAR,RANBP2 | c.1203C>A (p.Ile401=) c.1299C>A (p.Ile433=) c.1350C>A (p.Ile450=) c.1254C>A (p.Ile418=) c.630C>A (p.Ile210=) c.1443C>A (p.Ile481=) c.1347C>A (p.Ile449=) c.8370+124005G>T (n.8370+124005G>T) | |
2 | g.108897052A>C | CA348048001 | EDAR,RANBP2 | c.1202T>G (p.Ile401Ser) c.1298T>G (p.Ile433Ser) c.1349T>G (p.Ile450Ser) c.1253T>G (p.Ile418Ser) c.629T>G (p.Ile210Ser) c.1442T>G (p.Ile481Ser) c.1346T>G (p.Ile449Ser) c.8370+124006A>C (n.8370+124006A>C) | |
2 | g.108897052A>G | CA348047999 | EDAR,RANBP2 | c.1202T>C (p.Ile401Thr) c.1298T>C (p.Ile433Thr) c.1349T>C (p.Ile450Thr) c.1253T>C (p.Ile418Thr) c.629T>C (p.Ile210Thr) c.1442T>C (p.Ile481Thr) c.1346T>C (p.Ile449Thr) c.8370+124006A>G (n.8370+124006A>G) | ClinVar gnomAD v4 |
2 | g.108897052A>T | CA348048000 | EDAR,RANBP2 | c.1202T>A (p.Ile401Asn) c.1298T>A (p.Ile433Asn) c.1349T>A (p.Ile450Asn) c.1253T>A (p.Ile418Asn) c.629T>A (p.Ile210Asn) c.1442T>A (p.Ile481Asn) c.1346T>A (p.Ile449Asn) c.8370+124006A>T (n.8370+124006A>T) | |
2 | g.108897053T>A | CA348048002 | EDAR,RANBP2 | c.1201A>T (p.Ile401Phe) c.1297A>T (p.Ile433Phe) c.1348A>T (p.Ile450Phe) c.1252A>T (p.Ile418Phe) c.628A>T (p.Ile210Phe) c.1441A>T (p.Ile481Phe) c.1345A>T (p.Ile449Phe) c.8370+124007T>A (n.8370+124007T>A) | |
2 | g.108897053T>C | CA348048003 | EDAR,RANBP2 | c.1201A>G (p.Ile401Val) c.1297A>G (p.Ile433Val) c.1348A>G (p.Ile450Val) c.1252A>G (p.Ile418Val) c.628A>G (p.Ile210Val) c.1441A>G (p.Ile481Val) c.1345A>G (p.Ile449Val) c.8370+124007T>C (n.8370+124007T>C) | dbSNP |
2 | g.108897053T>G | CA348048004 | EDAR,RANBP2 | c.1201A>C (p.Ile401Leu) c.1297A>C (p.Ile433Leu) c.1348A>C (p.Ile450Leu) c.1252A>C (p.Ile418Leu) c.628A>C (p.Ile210Leu) c.1441A>C (p.Ile481Leu) c.1345A>C (p.Ile449Leu) c.8370+124007T>G (n.8370+124007T>G) | |
2 | g.108897053T= | CA1278354250 | EDAR,RANBP2 | c.1201A= (p.Ile401=) c.1297A= (p.Ile433=) c.1348A= (p.Ile450=) c.1252A= (p.Ile418=) c.628A= (p.Ile210=) c.1441A= (p.Ile481=) c.1345A= (p.Ile449=) c.8370+124007T= (n.8370+124007T=) | |
2 | g.108897054G>A | CA428204060 | EDAR,RANBP2 | c.1200C>T (p.Arg400=) c.1296C>T (p.Arg432=) c.1347C>T (p.Arg449=) c.1251C>T (p.Arg417=) c.627C>T (p.Arg209=) c.1440C>T (p.Arg480=) c.1344C>T (p.Arg448=) c.8370+124008G>A (n.8370+124008G>A) | |
2 | g.108897054G>C | CA428204062 | EDAR,RANBP2 | c.1200C>G (p.Arg400=) c.1296C>G (p.Arg432=) c.1347C>G (p.Arg449=) c.1251C>G (p.Arg417=) c.627C>G (p.Arg209=) c.1440C>G (p.Arg480=) c.1344C>G (p.Arg448=) c.8370+124008G>C (n.8370+124008G>C) | |
2 | g.108897054G>T | CA428204061 | EDAR,RANBP2 | c.1200C>A (p.Arg400=) c.1296C>A (p.Arg432=) c.1347C>A (p.Arg449=) c.1251C>A (p.Arg417=) c.627C>A (p.Arg209=) c.1440C>A (p.Arg480=) c.1344C>A (p.Arg448=) c.8370+124008G>T (n.8370+124008G>T) | |
2 | g.108897055C>A | CA348048005 | EDAR,RANBP2 | c.1199G>T (p.Arg400Leu) c.1295G>T (p.Arg432Leu) c.1346G>T (p.Arg449Leu) c.1250G>T (p.Arg417Leu) c.626G>T (p.Arg209Leu) c.1439G>T (p.Arg480Leu) c.1343G>T (p.Arg448Leu) c.8370+124009C>A (n.8370+124009C>A) | dbSNP gnomAD v4 |
2 | g.108897055C= | CA1278354251 | EDAR,RANBP2 | c.1199G= (p.Arg400=) c.1295G= (p.Arg432=) c.1346G= (p.Arg449=) c.1250G= (p.Arg417=) c.626G= (p.Arg209=) c.1439G= (p.Arg480=) c.1343G= (p.Arg448=) c.8370+124009C= (n.8370+124009C=) | |
2 | g.108897055C>G | CA348048006 | EDAR,RANBP2 | c.1199G>C (p.Arg400Pro) c.1295G>C (p.Arg432Pro) c.1346G>C (p.Arg449Pro) c.1250G>C (p.Arg417Pro) c.626G>C (p.Arg209Pro) c.1439G>C (p.Arg480Pro) c.1343G>C (p.Arg448Pro) c.8370+124009C>G (n.8370+124009C>G) | ClinVar |
2 | g.108897055C>T | CA1824800 | EDAR,RANBP2 | c.1199G>A (p.Arg400His) c.1295G>A (p.Arg432His) c.1346G>A (p.Arg449His) c.1250G>A (p.Arg417His) c.626G>A (p.Arg209His) c.1439G>A (p.Arg480His) c.1343G>A (p.Arg448His) c.8370+124009C>T (n.8370+124009C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897056G>A | CA1824801 | EDAR,RANBP2 | c.1198C>T (p.Arg400Cys) c.1294C>T (p.Arg432Cys) c.1345C>T (p.Arg449Cys) c.1249C>T (p.Arg417Cys) c.625C>T (p.Arg209Cys) c.1438C>T (p.Arg480Cys) c.1342C>T (p.Arg448Cys) c.8370+124010G>A (n.8370+124010G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108897056G>C | CA348048007 | EDAR,RANBP2 | c.1198C>G (p.Arg400Gly) c.1294C>G (p.Arg432Gly) c.1345C>G (p.Arg449Gly) c.1249C>G (p.Arg417Gly) c.625C>G (p.Arg209Gly) c.1438C>G (p.Arg480Gly) c.1342C>G (p.Arg448Gly) c.8370+124010G>C (n.8370+124010G>C) | |
2 | g.108897056G= | CA1278354252 | EDAR,RANBP2 | c.1198C= (p.Arg400=) c.1294C= (p.Arg432=) c.1345C= (p.Arg449=) c.1249C= (p.Arg417=) c.625C= (p.Arg209=) c.1438C= (p.Arg480=) c.1342C= (p.Arg448=) c.8370+124010G= (n.8370+124010G=) | |
2 | g.108897056G>T | CA348048008 | EDAR,RANBP2 | c.1198C>A (p.Arg400Ser) c.1294C>A (p.Arg432Ser) c.1345C>A (p.Arg449Ser) c.1249C>A (p.Arg417Ser) c.625C>A (p.Arg209Ser) c.1438C>A (p.Arg480Ser) c.1342C>A (p.Arg448Ser) c.8370+124010G>T (n.8370+124010G>T) | |
2 | g.108897057G>A | CA428204067 | EDAR,RANBP2 | c.1197C>T (p.Asp399=) c.1293C>T (p.Asp431=) c.1344C>T (p.Asp448=) c.1248C>T (p.Asp416=) c.624C>T (p.Asp208=) c.1437C>T (p.Asp479=) c.1341C>T (p.Asp447=) c.8370+124011G>A (n.8370+124011G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.108897057G>C | CA348048009 | EDAR,RANBP2 | c.1197C>G (p.Asp399Glu) c.1293C>G (p.Asp431Glu) c.1344C>G (p.Asp448Glu) c.1248C>G (p.Asp416Glu) c.624C>G (p.Asp208Glu) c.1437C>G (p.Asp479Glu) c.1341C>G (p.Asp447Glu) c.8370+124011G>C (n.8370+124011G>C) | |
2 | g.108897057G= | CA1278354253 | EDAR,RANBP2 | c.1197C= (p.Asp399=) c.1293C= (p.Asp431=) c.1344C= (p.Asp448=) c.1248C= (p.Asp416=) c.624C= (p.Asp208=) c.1437C= (p.Asp479=) c.1341C= (p.Asp447=) c.8370+124011G= (n.8370+124011G=) | |
2 | g.108897057G>T | CA348048010 | EDAR,RANBP2 | c.1197C>A (p.Asp399Glu) c.1293C>A (p.Asp431Glu) c.1344C>A (p.Asp448Glu) c.1248C>A (p.Asp416Glu) c.624C>A (p.Asp208Glu) c.1437C>A (p.Asp479Glu) c.1341C>A (p.Asp447Glu) c.8370+124011G>T (n.8370+124011G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897058T>A | CA348048013 | EDAR,RANBP2 | c.1196A>T (p.Asp399Val) c.1292A>T (p.Asp431Val) c.1343A>T (p.Asp448Val) c.1247A>T (p.Asp416Val) c.623A>T (p.Asp208Val) c.1436A>T (p.Asp479Val) c.1340A>T (p.Asp447Val) c.8370+124012T>A (n.8370+124012T>A) | |
2 | g.108897058T>C | CA348048012 | EDAR,RANBP2 | c.1196A>G (p.Asp399Gly) c.1292A>G (p.Asp431Gly) c.1343A>G (p.Asp448Gly) c.1247A>G (p.Asp416Gly) c.623A>G (p.Asp208Gly) c.1436A>G (p.Asp479Gly) c.1340A>G (p.Asp447Gly) c.8370+124012T>C (n.8370+124012T>C) | gnomAD v4 |
2 | g.108897058T>G | CA348048011 | EDAR,RANBP2 | c.1196A>C (p.Asp399Ala) c.1292A>C (p.Asp431Ala) c.1343A>C (p.Asp448Ala) c.1247A>C (p.Asp416Ala) c.623A>C (p.Asp208Ala) c.1436A>C (p.Asp479Ala) c.1340A>C (p.Asp447Ala) c.8370+124012T>G (n.8370+124012T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897058T= | CA1278354254 | EDAR,RANBP2 | c.1196A= (p.Asp399=) c.1292A= (p.Asp431=) c.1343A= (p.Asp448=) c.1247A= (p.Asp416=) c.623A= (p.Asp208=) c.1436A= (p.Asp479=) c.1340A= (p.Asp447=) c.8370+124012T= (n.8370+124012T=) | |
2 | g.108897059C>A | CA348048014 | EDAR,RANBP2 | c.1195G>T (p.Asp399Tyr) c.1291G>T (p.Asp431Tyr) c.1342G>T (p.Asp448Tyr) c.1246G>T (p.Asp416Tyr) c.622G>T (p.Asp208Tyr) c.1435G>T (p.Asp479Tyr) c.1339G>T (p.Asp447Tyr) c.8370+124013C>A (n.8370+124013C>A) | |
2 | g.108897059C= | CA1278354255 | EDAR,RANBP2 | c.1195G= (p.Asp399=) c.1291G= (p.Asp431=) c.1342G= (p.Asp448=) c.1246G= (p.Asp416=) c.622G= (p.Asp208=) c.1435G= (p.Asp479=) c.1339G= (p.Asp447=) c.8370+124013C= (n.8370+124013C=) | |
2 | g.108897059C>G | CA348048015 | EDAR,RANBP2 | c.1195G>C (p.Asp399His) c.1291G>C (p.Asp431His) c.1342G>C (p.Asp448His) c.1246G>C (p.Asp416His) c.622G>C (p.Asp208His) c.1435G>C (p.Asp479His) c.1339G>C (p.Asp447His) c.8370+124013C>G (n.8370+124013C>G) | dbSNP gnomAD v2 |
2 | g.108897059C>T | CA348048016 | EDAR,RANBP2 | c.1195G>A (p.Asp399Asn) c.1291G>A (p.Asp431Asn) c.1342G>A (p.Asp448Asn) c.1246G>A (p.Asp416Asn) c.622G>A (p.Asp208Asn) c.1435G>A (p.Asp479Asn) c.1339G>A (p.Asp447Asn) c.8370+124013C>T (n.8370+124013C>T) | |
2 | g.108897059_108897061delinsCAA | CA1278354256 | EDAR,RANBP2 | c.1193_1195delinsTTG (p.Phe398=) c.1289_1291delinsTTG (p.Phe430=) c.1340_1342delinsTTG (p.Phe447=) c.1244_1246delinsTTG (p.Phe415=) c.620_622delinsTTG (p.Phe207=) c.1433_1435delinsTTG (p.Phe478=) c.1337_1339delinsTTG (p.Phe446=) c.8370+124013_8370+124015delinsCAA (n.8370+124013_8370+124015delinsCAA) | |
2 | g.108897060A= | CA1278354257 | EDAR,RANBP2 | c.1194T= (p.Phe398=) c.1290T= (p.Phe430=) c.1341T= (p.Phe447=) c.1245T= (p.Phe415=) c.621T= (p.Phe207=) c.1434T= (p.Phe478=) c.1338T= (p.Phe446=) c.8370+124014A= (n.8370+124014A=) | |
2 | g.108897060A>C | CA348048017 | EDAR,RANBP2 | c.1194T>G (p.Phe398Leu) c.1290T>G (p.Phe430Leu) c.1341T>G (p.Phe447Leu) c.1245T>G (p.Phe415Leu) c.621T>G (p.Phe207Leu) c.1434T>G (p.Phe478Leu) c.1338T>G (p.Phe446Leu) c.8370+124014A>C (n.8370+124014A>C) | |
2 | g.108897060A>G | CA1824802 | EDAR,RANBP2 | c.1194T>C (p.Phe398=) c.1290T>C (p.Phe430=) c.1341T>C (p.Phe447=) c.1245T>C (p.Phe415=) c.621T>C (p.Phe207=) c.1434T>C (p.Phe478=) c.1338T>C (p.Phe446=) c.8370+124014A>G (n.8370+124014A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108897060A>T | CA348048018 | EDAR,RANBP2 | c.1194T>A (p.Phe398Leu) c.1290T>A (p.Phe430Leu) c.1341T>A (p.Phe447Leu) c.1245T>A (p.Phe415Leu) c.621T>A (p.Phe207Leu) c.1434T>A (p.Phe478Leu) c.1338T>A (p.Phe446Leu) c.8370+124014A>T (n.8370+124014A>T) | gnomAD v4 |
2 | g.108897061_108897062del | CA658795840 | EDAR,RANBP2 | c.1193_1194del (p.Phe398Ter) c.1289_1290del (p.Phe430Ter) c.1340_1341del (p.Phe447Ter) c.1244_1245del (p.Phe415Ter) c.620_621del (p.Phe207Ter) c.1433_1434del (p.Phe478Ter) c.1337_1338del (p.Phe446Ter) c.8370+124015_8370+124016del (n.8370+124015_8370+124016del) | ClinVar dbSNP gnomAD v4 |
2 | g.108897061A>C | CA348048019 | EDAR,RANBP2 | c.1193T>G (p.Phe398Cys) c.1289T>G (p.Phe430Cys) c.1340T>G (p.Phe447Cys) c.1244T>G (p.Phe415Cys) c.620T>G (p.Phe207Cys) c.1433T>G (p.Phe478Cys) c.1337T>G (p.Phe446Cys) c.8370+124015A>C (n.8370+124015A>C) | |
2 | g.108897061A>G | CA348048020 | EDAR,RANBP2 | c.1193T>C (p.Phe398Ser) c.1289T>C (p.Phe430Ser) c.1340T>C (p.Phe447Ser) c.1244T>C (p.Phe415Ser) c.620T>C (p.Phe207Ser) c.1433T>C (p.Phe478Ser) c.1337T>C (p.Phe446Ser) c.8370+124015A>G (n.8370+124015A>G) | |
2 | g.108897061A>T | CA348048021 | EDAR,RANBP2 | c.1193T>A (p.Phe398Tyr) c.1289T>A (p.Phe430Tyr) c.1340T>A (p.Phe447Tyr) c.1244T>A (p.Phe415Tyr) c.620T>A (p.Phe207Tyr) c.1433T>A (p.Phe478Tyr) c.1337T>A (p.Phe446Tyr) c.8370+124015A>T (n.8370+124015A>T) | |
2 | g.108897062A>C | CA348048022 | EDAR,RANBP2 | c.1192T>G (p.Phe398Val) c.1288T>G (p.Phe430Val) c.1339T>G (p.Phe447Val) c.1243T>G (p.Phe415Val) c.619T>G (p.Phe207Val) c.1432T>G (p.Phe478Val) c.1336T>G (p.Phe446Val) c.8370+124016A>C (n.8370+124016A>C) | |
2 | g.108897062A>G | CA348048023 | EDAR,RANBP2 | c.1192T>C (p.Phe398Leu) c.1288T>C (p.Phe430Leu) c.1339T>C (p.Phe447Leu) c.1243T>C (p.Phe415Leu) c.619T>C (p.Phe207Leu) c.1432T>C (p.Phe478Leu) c.1336T>C (p.Phe446Leu) c.8370+124016A>G (n.8370+124016A>G) | |
2 | g.108897062A>T | CA348048024 | EDAR,RANBP2 | c.1192T>A (p.Phe398Ile) c.1288T>A (p.Phe430Ile) c.1339T>A (p.Phe447Ile) c.1243T>A (p.Phe415Ile) c.619T>A (p.Phe207Ile) c.1432T>A (p.Phe478Ile) c.1336T>A (p.Phe446Ile) c.8370+124016A>T (n.8370+124016A>T) | |
2 | g.108897063G>A | CA428204073 | EDAR,RANBP2 | c.1191C>T (p.Leu397=) c.1287C>T (p.Leu429=) c.1338C>T (p.Leu446=) c.1242C>T (p.Leu414=) c.618C>T (p.Leu206=) c.1431C>T (p.Leu477=) c.1335C>T (p.Leu445=) c.8370+124017G>A (n.8370+124017G>A) | |
2 | g.108897063G>C | CA428204074 | EDAR,RANBP2 | c.1191C>G (p.Leu397=) c.1287C>G (p.Leu429=) c.1338C>G (p.Leu446=) c.1242C>G (p.Leu414=) c.618C>G (p.Leu206=) c.1431C>G (p.Leu477=) c.1335C>G (p.Leu445=) c.8370+124017G>C (n.8370+124017G>C) | |
2 | g.108897063G>T | CA428204075 | EDAR,RANBP2 | c.1191C>A (p.Leu397=) c.1287C>A (p.Leu429=) c.1338C>A (p.Leu446=) c.1242C>A (p.Leu414=) c.618C>A (p.Leu206=) c.1431C>A (p.Leu477=) c.1335C>A (p.Leu445=) c.8370+124017G>T (n.8370+124017G>T) | |
2 | g.108897064A>C | CA348048026 | EDAR,RANBP2 | c.1190T>G (p.Leu397Arg) c.1286T>G (p.Leu429Arg) c.1337T>G (p.Leu446Arg) c.1241T>G (p.Leu414Arg) c.617T>G (p.Leu206Arg) c.1430T>G (p.Leu477Arg) c.1334T>G (p.Leu445Arg) c.8370+124018A>C (n.8370+124018A>C) | |
2 | g.108897064A>G | CA348048027 | EDAR,RANBP2 | c.1190T>C (p.Leu397Pro) c.1286T>C (p.Leu429Pro) c.1337T>C (p.Leu446Pro) c.1241T>C (p.Leu414Pro) c.617T>C (p.Leu206Pro) c.1430T>C (p.Leu477Pro) c.1334T>C (p.Leu445Pro) c.8370+124018A>G (n.8370+124018A>G) | |
2 | g.108897064A>T | CA348048025 | EDAR,RANBP2 | c.1190T>A (p.Leu397His) c.1286T>A (p.Leu429His) c.1337T>A (p.Leu446His) c.1241T>A (p.Leu414His) c.617T>A (p.Leu206His) c.1430T>A (p.Leu477His) c.1334T>A (p.Leu445His) c.8370+124018A>T (n.8370+124018A>T) | |
2 | g.108897065G>A | CA348048028 | EDAR,RANBP2 | c.1189C>T (p.Leu397Phe) c.1285C>T (p.Leu429Phe) c.1336C>T (p.Leu446Phe) c.1240C>T (p.Leu414Phe) c.616C>T (p.Leu206Phe) c.1429C>T (p.Leu477Phe) c.1333C>T (p.Leu445Phe) c.8370+124019G>A (n.8370+124019G>A) | |
2 | g.108897065G>C | CA348048029 | EDAR,RANBP2 | c.1189C>G (p.Leu397Val) c.1285C>G (p.Leu429Val) c.1336C>G (p.Leu446Val) c.1240C>G (p.Leu414Val) c.616C>G (p.Leu206Val) c.1429C>G (p.Leu477Val) c.1333C>G (p.Leu445Val) c.8370+124019G>C (n.8370+124019G>C) | |
2 | g.108897065G>T | CA348048030 | EDAR,RANBP2 | c.1189C>A (p.Leu397Ile) c.1285C>A (p.Leu429Ile) c.1336C>A (p.Leu446Ile) c.1240C>A (p.Leu414Ile) c.616C>A (p.Leu206Ile) c.1429C>A (p.Leu477Ile) c.1333C>A (p.Leu445Ile) c.8370+124019G>T (n.8370+124019G>T) | |
2 | g.108897066_108897068dup | CA2586969740 | EDAR,RANBP2 | c.1187_1189dup (p.Gln396_Leu397insGln) c.1283_1285dup (p.Gln428_Leu429insGln) c.1334_1336dup (p.Gln445_Leu446insGln) c.1238_1240dup (p.Gln413_Leu414insGln) c.614_616dup (p.Gln205_Leu206insGln) c.1427_1429dup (p.Gln476_Leu477insGln) c.1331_1333dup (p.Gln444_Leu445insGln) c.8370+124020_8370+124022dup (n.8370+124020_8370+124022dup) | |
2 | g.108897066T>A | CA348048031 | EDAR,RANBP2 | c.1188A>T (p.Gln396His) c.1284A>T (p.Gln428His) c.1335A>T (p.Gln445His) c.1239A>T (p.Gln413His) c.615A>T (p.Gln205His) c.1428A>T (p.Gln476His) c.1332A>T (p.Gln444His) c.8370+124020T>A (n.8370+124020T>A) | |
2 | g.108897066T>C | CA428204080 | EDAR,RANBP2 | c.1188A>G (p.Gln396=) c.1284A>G (p.Gln428=) c.1335A>G (p.Gln445=) c.1239A>G (p.Gln413=) c.615A>G (p.Gln205=) c.1428A>G (p.Gln476=) c.1332A>G (p.Gln444=) c.8370+124020T>C (n.8370+124020T>C) | gnomAD v4 |
2 | g.108897066T>G | CA348048032 | EDAR,RANBP2 | c.1188A>C (p.Gln396His) c.1284A>C (p.Gln428His) c.1335A>C (p.Gln445His) c.1239A>C (p.Gln413His) c.615A>C (p.Gln205His) c.1428A>C (p.Gln476His) c.1332A>C (p.Gln444His) c.8370+124020T>G (n.8370+124020T>G) | |
2 | g.108897067T>A | CA348048035 | EDAR,RANBP2 | c.1187A>T (p.Gln396Leu) c.1283A>T (p.Gln428Leu) c.1334A>T (p.Gln445Leu) c.1238A>T (p.Gln413Leu) c.614A>T (p.Gln205Leu) c.1427A>T (p.Gln476Leu) c.1331A>T (p.Gln444Leu) c.8370+124021T>A (n.8370+124021T>A) | |
2 | g.108897067T>C | CA348048033 | EDAR,RANBP2 | c.1187A>G (p.Gln396Arg) c.1283A>G (p.Gln428Arg) c.1334A>G (p.Gln445Arg) c.1238A>G (p.Gln413Arg) c.614A>G (p.Gln205Arg) c.1427A>G (p.Gln476Arg) c.1331A>G (p.Gln444Arg) c.8370+124021T>C (n.8370+124021T>C) | |
2 | g.108897067T>G | CA348048034 | EDAR,RANBP2 | c.1187A>C (p.Gln396Pro) c.1283A>C (p.Gln428Pro) c.1334A>C (p.Gln445Pro) c.1238A>C (p.Gln413Pro) c.614A>C (p.Gln205Pro) c.1427A>C (p.Gln476Pro) c.1331A>C (p.Gln444Pro) c.8370+124021T>G (n.8370+124021T>G) | |
2 | g.108897068G>A | CA348048036 | EDAR,RANBP2 | c.1186C>T (p.Gln396Ter) c.1282C>T (p.Gln428Ter) c.1333C>T (p.Gln445Ter) c.1237C>T (p.Gln413Ter) c.613C>T (p.Gln205Ter) c.1426C>T (p.Gln476Ter) c.1330C>T (p.Gln444Ter) c.8370+124022G>A (n.8370+124022G>A) | |
2 | g.108897068G>C | CA348048037 | EDAR,RANBP2 | c.1186C>G (p.Gln396Glu) c.1282C>G (p.Gln428Glu) c.1333C>G (p.Gln445Glu) c.1237C>G (p.Gln413Glu) c.613C>G (p.Gln205Glu) c.1426C>G (p.Gln476Glu) c.1330C>G (p.Gln444Glu) c.8370+124022G>C (n.8370+124022G>C) | gnomAD v4 |
2 | g.108897068G>T | CA348048038 | EDAR,RANBP2 | c.1186C>A (p.Gln396Lys) c.1282C>A (p.Gln428Lys) c.1333C>A (p.Gln445Lys) c.1237C>A (p.Gln413Lys) c.613C>A (p.Gln205Lys) c.1426C>A (p.Gln476Lys) c.1330C>A (p.Gln444Lys) c.8370+124022G>T (n.8370+124022G>T) | dbSNP |
2 | g.108897069C>A | CA348048039 | EDAR,RANBP2 | c.1185G>T (p.Met395Ile) c.1281G>T (p.Met427Ile) c.1332G>T (p.Met444Ile) c.1236G>T (p.Met412Ile) c.612G>T (p.Met204Ile) c.1425G>T (p.Met475Ile) c.1329G>T (p.Met443Ile) c.8370+124023C>A (n.8370+124023C>A) | |
2 | g.108897069C>G | CA348048040 | EDAR,RANBP2 | c.1185G>C (p.Met395Ile) c.1281G>C (p.Met427Ile) c.1332G>C (p.Met444Ile) c.1236G>C (p.Met412Ile) c.612G>C (p.Met204Ile) c.1425G>C (p.Met475Ile) c.1329G>C (p.Met443Ile) c.8370+124023C>G (n.8370+124023C>G) | |
2 | g.108897069C>T | CA348048041 | EDAR,RANBP2 | c.1185G>A (p.Met395Ile) c.1281G>A (p.Met427Ile) c.1332G>A (p.Met444Ile) c.1236G>A (p.Met412Ile) c.612G>A (p.Met204Ile) c.1425G>A (p.Met475Ile) c.1329G>A (p.Met443Ile) c.8370+124023C>T (n.8370+124023C>T) | |
2 | g.108897075_108897086del | CA2740095682 | EDAR,RANBP2 | c.1174_1185del (p.Thr392_Met395del) c.1270_1281del (p.Thr424_Met427del) c.1321_1332del (p.Thr441_Met444del) c.1225_1236del (p.Thr409_Met412del) c.601_612del (p.Thr201_Met204del) c.1414_1425del (p.Thr472_Met475del) c.1318_1329del (p.Thr440_Met443del) c.8370+124029_8370+124040del (n.8370+124029_8370+124040del) | ClinVar |
2 | g.108897070A>C | CA348048043 | EDAR,RANBP2 | c.1184T>G (p.Met395Arg) c.1280T>G (p.Met427Arg) c.1331T>G (p.Met444Arg) c.1235T>G (p.Met412Arg) c.611T>G (p.Met204Arg) c.1424T>G (p.Met475Arg) c.1328T>G (p.Met443Arg) c.8370+124024A>C (n.8370+124024A>C) | |
2 | g.108897070A>G | CA348048044 | EDAR,RANBP2 | c.1184T>C (p.Met395Thr) c.1280T>C (p.Met427Thr) c.1331T>C (p.Met444Thr) c.1235T>C (p.Met412Thr) c.611T>C (p.Met204Thr) c.1424T>C (p.Met475Thr) c.1328T>C (p.Met443Thr) c.8370+124024A>G (n.8370+124024A>G) | gnomAD v4 |
2 | g.108897070A>T | CA348048042 | EDAR,RANBP2 | c.1184T>A (p.Met395Lys) c.1280T>A (p.Met427Lys) c.1331T>A (p.Met444Lys) c.1235T>A (p.Met412Lys) c.611T>A (p.Met204Lys) c.1424T>A (p.Met475Lys) c.1328T>A (p.Met443Lys) c.8370+124024A>T (n.8370+124024A>T) | |
2 | g.108897071T>A | CA348048045 | EDAR,RANBP2 | c.1183A>T (p.Met395Leu) c.1279A>T (p.Met427Leu) c.1330A>T (p.Met444Leu) c.1234A>T (p.Met412Leu) c.610A>T (p.Met204Leu) c.1423A>T (p.Met475Leu) c.1327A>T (p.Met443Leu) c.8370+124025T>A (n.8370+124025T>A) | |
2 | g.108897071T>C | CA10610572 | EDAR,RANBP2 | c.1183A>G (p.Met395Val) c.1279A>G (p.Met427Val) c.1330A>G (p.Met444Val) c.1234A>G (p.Met412Val) c.610A>G (p.Met204Val) c.1423A>G (p.Met475Val) c.1327A>G (p.Met443Val) c.8370+124025T>C (n.8370+124025T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.108897071T>G | CA348048046 | EDAR,RANBP2 | c.1183A>C (p.Met395Leu) c.1279A>C (p.Met427Leu) c.1330A>C (p.Met444Leu) c.1234A>C (p.Met412Leu) c.610A>C (p.Met204Leu) c.1423A>C (p.Met475Leu) c.1327A>C (p.Met443Leu) c.8370+124025T>G (n.8370+124025T>G) | |
2 | g.108897071T= | CA1278354258 | EDAR,RANBP2 | c.1183A= (p.Met395=) c.1279A= (p.Met427=) c.1330A= (p.Met444=) c.1234A= (p.Met412=) c.610A= (p.Met204=) c.1423A= (p.Met475=) c.1327A= (p.Met443=) c.8370+124025T= (n.8370+124025T=) | |
2 | g.108897072G>A | CA428204089 | EDAR,RANBP2 | c.1182C>T (p.Gly394=) c.1278C>T (p.Gly426=) c.1329C>T (p.Gly443=) c.1233C>T (p.Gly411=) c.609C>T (p.Gly203=) c.1422C>T (p.Gly474=) c.1326C>T (p.Gly442=) c.8370+124026G>A (n.8370+124026G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897072G>C | CA428204090 | EDAR,RANBP2 | c.1182C>G (p.Gly394=) c.1278C>G (p.Gly426=) c.1329C>G (p.Gly443=) c.1233C>G (p.Gly411=) c.609C>G (p.Gly203=) c.1422C>G (p.Gly474=) c.1326C>G (p.Gly442=) c.8370+124026G>C (n.8370+124026G>C) | |
2 | g.108897072G= | CA1278354259 | EDAR,RANBP2 | c.1182C= (p.Gly394=) c.1278C= (p.Gly426=) c.1329C= (p.Gly443=) c.1233C= (p.Gly411=) c.609C= (p.Gly203=) c.1422C= (p.Gly474=) c.1326C= (p.Gly442=) c.8370+124026G= (n.8370+124026G=) | |
2 | g.108897072G>T | CA428204095 | EDAR,RANBP2 | c.1182C>A (p.Gly394=) c.1278C>A (p.Gly426=) c.1329C>A (p.Gly443=) c.1233C>A (p.Gly411=) c.609C>A (p.Gly203=) c.1422C>A (p.Gly474=) c.1326C>A (p.Gly442=) c.8370+124026G>T (n.8370+124026G>T) | |
2 | g.108897073C>A | CA348048047 | EDAR,RANBP2 | c.1181G>T (p.Gly394Val) c.1277G>T (p.Gly426Val) c.1328G>T (p.Gly443Val) c.1232G>T (p.Gly411Val) c.608G>T (p.Gly203Val) c.1421G>T (p.Gly474Val) c.1325G>T (p.Gly442Val) c.8370+124027C>A (n.8370+124027C>A) | |
2 | g.108897073C>G | CA348048049 | EDAR,RANBP2 | c.1181G>C (p.Gly394Ala) c.1277G>C (p.Gly426Ala) c.1328G>C (p.Gly443Ala) c.1232G>C (p.Gly411Ala) c.608G>C (p.Gly203Ala) c.1421G>C (p.Gly474Ala) c.1325G>C (p.Gly442Ala) c.8370+124027C>G (n.8370+124027C>G) | |
2 | g.108897073C>T | CA348048048 | EDAR,RANBP2 | c.1181G>A (p.Gly394Asp) c.1277G>A (p.Gly426Asp) c.1328G>A (p.Gly443Asp) c.1232G>A (p.Gly411Asp) c.608G>A (p.Gly203Asp) c.1421G>A (p.Gly474Asp) c.1325G>A (p.Gly442Asp) c.8370+124027C>T (n.8370+124027C>T) | gnomAD v4 |
2 | g.108897074C>A | CA348048050 | EDAR,RANBP2 | c.1180G>T (p.Gly394Cys) c.1276G>T (p.Gly426Cys) c.1327G>T (p.Gly443Cys) c.1231G>T (p.Gly411Cys) c.607G>T (p.Gly203Cys) c.1420G>T (p.Gly474Cys) c.1324G>T (p.Gly442Cys) c.8370+124028C>A (n.8370+124028C>A) | |
2 | g.108897074C= | CA1278354260 | EDAR,RANBP2 | c.1180G= (p.Gly394=) c.1276G= (p.Gly426=) c.1327G= (p.Gly443=) c.1231G= (p.Gly411=) c.607G= (p.Gly203=) c.1420G= (p.Gly474=) c.1324G= (p.Gly442=) c.8370+124028C= (n.8370+124028C=) | |
2 | g.108897074C>G | CA348048051 | EDAR,RANBP2 | c.1180G>C (p.Gly394Arg) c.1276G>C (p.Gly426Arg) c.1327G>C (p.Gly443Arg) c.1231G>C (p.Gly411Arg) c.607G>C (p.Gly203Arg) c.1420G>C (p.Gly474Arg) c.1324G>C (p.Gly442Arg) c.8370+124028C>G (n.8370+124028C>G) | |
2 | g.108897074C>T | CA1824803 | EDAR,RANBP2 | c.1180G>A (p.Gly394Ser) c.1276G>A (p.Gly426Ser) c.1327G>A (p.Gly443Ser) c.1231G>A (p.Gly411Ser) c.607G>A (p.Gly203Ser) c.1420G>A (p.Gly474Ser) c.1324G>A (p.Gly442Ser) c.8370+124028C>T (n.8370+124028C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>A | CA1824804 | EDAR,RANBP2 | c.1179C>T (p.Asp393=) c.1275C>T (p.Asp425=) c.1326C>T (p.Asp442=) c.1230C>T (p.Asp410=) c.606C>T (p.Asp202=) c.1419C>T (p.Asp473=) c.1323C>T (p.Asp441=) c.8370+124029G>A (n.8370+124029G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897075G>C | CA348048052 | EDAR,RANBP2 | c.1179C>G (p.Asp393Glu) c.1275C>G (p.Asp425Glu) c.1326C>G (p.Asp442Glu) c.1230C>G (p.Asp410Glu) c.606C>G (p.Asp202Glu) c.1419C>G (p.Asp473Glu) c.1323C>G (p.Asp441Glu) c.8370+124029G>C (n.8370+124029G>C) | |
2 | g.108897075G= | CA1278354261 | EDAR,RANBP2 | c.1179C= (p.Asp393=) c.1275C= (p.Asp425=) c.1326C= (p.Asp442=) c.1230C= (p.Asp410=) c.606C= (p.Asp202=) c.1419C= (p.Asp473=) c.1323C= (p.Asp441=) c.8370+124029G= (n.8370+124029G=) | |
2 | g.108897075G>T | CA348048053 | EDAR,RANBP2 | c.1179C>A (p.Asp393Glu) c.1275C>A (p.Asp425Glu) c.1326C>A (p.Asp442Glu) c.1230C>A (p.Asp410Glu) c.606C>A (p.Asp202Glu) c.1419C>A (p.Asp473Glu) c.1323C>A (p.Asp441Glu) c.8370+124029G>T (n.8370+124029G>T) | gnomAD v4 |
2 | g.108897076T>A | CA348048054 | EDAR,RANBP2 | c.1178A>T (p.Asp393Val) c.1274A>T (p.Asp425Val) c.1325A>T (p.Asp442Val) c.1229A>T (p.Asp410Val) c.605A>T (p.Asp202Val) c.1418A>T (p.Asp473Val) c.1322A>T (p.Asp441Val) c.8370+124030T>A (n.8370+124030T>A) | |
2 | g.108897076T>C | CA348048055 | EDAR,RANBP2 | c.1178A>G (p.Asp393Gly) c.1274A>G (p.Asp425Gly) c.1325A>G (p.Asp442Gly) c.1229A>G (p.Asp410Gly) c.605A>G (p.Asp202Gly) c.1418A>G (p.Asp473Gly) c.1322A>G (p.Asp441Gly) c.8370+124030T>C (n.8370+124030T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897076T>G | CA348048056 | EDAR,RANBP2 | c.1178A>C (p.Asp393Ala) c.1274A>C (p.Asp425Ala) c.1325A>C (p.Asp442Ala) c.1229A>C (p.Asp410Ala) c.605A>C (p.Asp202Ala) c.1418A>C (p.Asp473Ala) c.1322A>C (p.Asp441Ala) c.8370+124030T>G (n.8370+124030T>G) | |
2 | g.108897076T= | CA1278354262 | EDAR,RANBP2 | c.1178A= (p.Asp393=) c.1274A= (p.Asp425=) c.1325A= (p.Asp442=) c.1229A= (p.Asp410=) c.605A= (p.Asp202=) c.1418A= (p.Asp473=) c.1322A= (p.Asp441=) c.8370+124030T= (n.8370+124030T=) | |
2 | g.108897077_108897078dup | CA2577065494 | EDAR,RANBP2 | c.1177_1178dup (p.Asp393GlufsTer?) c.1273_1274dup (p.Asp425GlufsTer?) c.1324_1325dup (p.Asp442GlufsTer?) c.1228_1229dup (p.Asp410GlufsTer?) c.604_605dup (p.Asp202GlufsTer?) c.1417_1418dup (p.Asp473GlufsTer?) c.1321_1322dup (p.Asp441GlufsTer?) c.8370+124031_8370+124032dup (n.8370+124031_8370+124032dup) | |
2 | g.108897077C>A | CA348048057 | EDAR,RANBP2 | c.1177G>T (p.Asp393Tyr) c.1273G>T (p.Asp425Tyr) c.1324G>T (p.Asp442Tyr) c.1228G>T (p.Asp410Tyr) c.604G>T (p.Asp202Tyr) c.1417G>T (p.Asp473Tyr) c.1321G>T (p.Asp441Tyr) c.8370+124031C>A (n.8370+124031C>A) | |
2 | g.108897077C>G | CA348048058 | EDAR,RANBP2 | c.1177G>C (p.Asp393His) c.1273G>C (p.Asp425His) c.1324G>C (p.Asp442His) c.1228G>C (p.Asp410His) c.604G>C (p.Asp202His) c.1417G>C (p.Asp473His) c.1321G>C (p.Asp441His) c.8370+124031C>G (n.8370+124031C>G) | |
2 | g.108897077C>T | CA348048059 | EDAR,RANBP2 | c.1177G>A (p.Asp393Asn) c.1273G>A (p.Asp425Asn) c.1324G>A (p.Asp442Asn) c.1228G>A (p.Asp410Asn) c.604G>A (p.Asp202Asn) c.1417G>A (p.Asp473Asn) c.1321G>A (p.Asp441Asn) c.8370+124031C>T (n.8370+124031C>T) | |
2 | g.108897078T>A | CA428204109 | EDAR,RANBP2 | c.1176A>T (p.Thr392=) c.1272A>T (p.Thr424=) c.1323A>T (p.Thr441=) c.1227A>T (p.Thr409=) c.603A>T (p.Thr201=) c.1416A>T (p.Thr472=) c.1320A>T (p.Thr440=) c.8370+124032T>A (n.8370+124032T>A) | |
2 | g.108897078T>C | CA428204110 | EDAR,RANBP2 | c.1176A>G (p.Thr392=) c.1272A>G (p.Thr424=) c.1323A>G (p.Thr441=) c.1227A>G (p.Thr409=) c.603A>G (p.Thr201=) c.1416A>G (p.Thr472=) c.1320A>G (p.Thr440=) c.8370+124032T>C (n.8370+124032T>C) | |
2 | g.108897078T>G | CA428204111 | EDAR,RANBP2 | c.1176A>C (p.Thr392=) c.1272A>C (p.Thr424=) c.1323A>C (p.Thr441=) c.1227A>C (p.Thr409=) c.603A>C (p.Thr201=) c.1416A>C (p.Thr472=) c.1320A>C (p.Thr440=) c.8370+124032T>G (n.8370+124032T>G) | |
2 | g.108897079G>A | CA53464748 | EDAR,RANBP2 | c.1175C>T (p.Thr392Ile) c.1271C>T (p.Thr424Ile) c.1322C>T (p.Thr441Ile) c.1226C>T (p.Thr409Ile) c.602C>T (p.Thr201Ile) c.1415C>T (p.Thr472Ile) c.1319C>T (p.Thr440Ile) c.8370+124033G>A (n.8370+124033G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108897079G>C | CA348048061 | EDAR,RANBP2 | c.1175C>G (p.Thr392Arg) c.1271C>G (p.Thr424Arg) c.1322C>G (p.Thr441Arg) c.1226C>G (p.Thr409Arg) c.602C>G (p.Thr201Arg) c.1415C>G (p.Thr472Arg) c.1319C>G (p.Thr440Arg) c.8370+124033G>C (n.8370+124033G>C) | gnomAD v4 |
2 | g.108897079G= | CA1278354263 | EDAR,RANBP2 | c.1175C= (p.Thr392=) c.1271C= (p.Thr424=) c.1322C= (p.Thr441=) c.1226C= (p.Thr409=) c.602C= (p.Thr201=) c.1415C= (p.Thr472=) c.1319C= (p.Thr440=) c.8370+124033G= (n.8370+124033G=) | |
2 | g.108897079G>T | CA348048060 | EDAR,RANBP2 | c.1175C>A (p.Thr392Lys) c.1271C>A (p.Thr424Lys) c.1322C>A (p.Thr441Lys) c.1226C>A (p.Thr409Lys) c.602C>A (p.Thr201Lys) c.1415C>A (p.Thr472Lys) c.1319C>A (p.Thr440Lys) c.8370+124033G>T (n.8370+124033G>T) | |
2 | g.108897080T>A | CA348048062 | EDAR,RANBP2 | c.1174A>T (p.Thr392Ser) c.1270A>T (p.Thr424Ser) c.1321A>T (p.Thr441Ser) c.1225A>T (p.Thr409Ser) c.601A>T (p.Thr201Ser) c.1414A>T (p.Thr472Ser) c.1318A>T (p.Thr440Ser) c.8370+124034T>A (n.8370+124034T>A) | |
2 | g.108897080T>C | CA348048063 | EDAR,RANBP2 | c.1174A>G (p.Thr392Ala) c.1270A>G (p.Thr424Ala) c.1321A>G (p.Thr441Ala) c.1225A>G (p.Thr409Ala) c.601A>G (p.Thr201Ala) c.1414A>G (p.Thr472Ala) c.1318A>G (p.Thr440Ala) c.8370+124034T>C (n.8370+124034T>C) | |
2 | g.108897080T>G | CA348048064 | EDAR,RANBP2 | c.1174A>C (p.Thr392Pro) c.1270A>C (p.Thr424Pro) c.1321A>C (p.Thr441Pro) c.1225A>C (p.Thr409Pro) c.601A>C (p.Thr201Pro) c.1414A>C (p.Thr472Pro) c.1318A>C (p.Thr440Pro) c.8370+124034T>G (n.8370+124034T>G) | |
2 | g.108897081C>A | CA348048065 | EDAR,RANBP2 | c.1173G>T (p.Met391Ile) c.1269G>T (p.Met423Ile) c.1320G>T (p.Met440Ile) c.1224G>T (p.Met408Ile) c.600G>T (p.Met200Ile) c.1413G>T (p.Met471Ile) c.1317G>T (p.Met439Ile) c.8370+124035C>A (n.8370+124035C>A) | |
2 | g.108897081C>G | CA348048066 | EDAR,RANBP2 | c.1173G>C (p.Met391Ile) c.1269G>C (p.Met423Ile) c.1320G>C (p.Met440Ile) c.1224G>C (p.Met408Ile) c.600G>C (p.Met200Ile) c.1413G>C (p.Met471Ile) c.1317G>C (p.Met439Ile) c.8370+124035C>G (n.8370+124035C>G) | |
2 | g.108897081C>T | CA348048067 | EDAR,RANBP2 | c.1173G>A (p.Met391Ile) c.1269G>A (p.Met423Ile) c.1320G>A (p.Met440Ile) c.1224G>A (p.Met408Ile) c.600G>A (p.Met200Ile) c.1413G>A (p.Met471Ile) c.1317G>A (p.Met439Ile) c.8370+124035C>T (n.8370+124035C>T) | gnomAD v4 |
2 | g.108897082A>C | CA348048068 | EDAR,RANBP2 | c.1172T>G (p.Met391Arg) c.1268T>G (p.Met423Arg) c.1319T>G (p.Met440Arg) c.1223T>G (p.Met408Arg) c.599T>G (p.Met200Arg) c.1412T>G (p.Met471Arg) c.1316T>G (p.Met439Arg) c.8370+124036A>C (n.8370+124036A>C) | |
2 | g.108897082A>G | CA348048069 | EDAR,RANBP2 | c.1172T>C (p.Met391Thr) c.1268T>C (p.Met423Thr) c.1319T>C (p.Met440Thr) c.1223T>C (p.Met408Thr) c.599T>C (p.Met200Thr) c.1412T>C (p.Met471Thr) c.1316T>C (p.Met439Thr) c.8370+124036A>G (n.8370+124036A>G) | gnomAD v4 COSMIC COSMIC |
2 | g.108897082A>T | CA348048070 | EDAR,RANBP2 | c.1172T>A (p.Met391Lys) c.1268T>A (p.Met423Lys) c.1319T>A (p.Met440Lys) c.1223T>A (p.Met408Lys) c.599T>A (p.Met200Lys) c.1412T>A (p.Met471Lys) c.1316T>A (p.Met439Lys) c.8370+124036A>T (n.8370+124036A>T) | gnomAD v4 |
2 | g.108897083T>A | CA348048073 | EDAR,RANBP2 | c.1171A>T (p.Met391Leu) c.1267A>T (p.Met423Leu) c.1318A>T (p.Met440Leu) c.1222A>T (p.Met408Leu) c.598A>T (p.Met200Leu) c.1411A>T (p.Met471Leu) c.1315A>T (p.Met439Leu) c.8370+124037T>A (n.8370+124037T>A) | |
2 | g.108897083T>C | CA348048072 | EDAR,RANBP2 | c.1171A>G (p.Met391Val) c.1267A>G (p.Met423Val) c.1318A>G (p.Met440Val) c.1222A>G (p.Met408Val) c.598A>G (p.Met200Val) c.1411A>G (p.Met471Val) c.1315A>G (p.Met439Val) c.8370+124037T>C (n.8370+124037T>C) | |
2 | g.108897083T>G | CA348048071 | EDAR,RANBP2 | c.1171A>C (p.Met391Leu) c.1267A>C (p.Met423Leu) c.1318A>C (p.Met440Leu) c.1222A>C (p.Met408Leu) c.598A>C (p.Met200Leu) c.1411A>C (p.Met471Leu) c.1315A>C (p.Met439Leu) c.8370+124037T>G (n.8370+124037T>G) | |
2 | g.108897084G>A | CA428204117 | EDAR,RANBP2 | c.1170C>T (p.Gly390=) c.1266C>T (p.Gly422=) c.1317C>T (p.Gly439=) c.1221C>T (p.Gly407=) c.597C>T (p.Gly199=) c.1410C>T (p.Gly470=) c.1314C>T (p.Gly438=) c.8370+124038G>A (n.8370+124038G>A) | gnomAD v4 |
2 | g.108897084G>C | CA428204118 | EDAR,RANBP2 | c.1170C>G (p.Gly390=) c.1266C>G (p.Gly422=) c.1317C>G (p.Gly439=) c.1221C>G (p.Gly407=) c.597C>G (p.Gly199=) c.1410C>G (p.Gly470=) c.1314C>G (p.Gly438=) c.8370+124038G>C (n.8370+124038G>C) | |
2 | g.108897084G>T | CA428204119 | EDAR,RANBP2 | c.1170C>A (p.Gly390=) c.1266C>A (p.Gly422=) c.1317C>A (p.Gly439=) c.1221C>A (p.Gly407=) c.597C>A (p.Gly199=) c.1410C>A (p.Gly470=) c.1314C>A (p.Gly438=) c.8370+124038G>T (n.8370+124038G>T) | dbSNP gnomAD v4 |
2 | g.108897084_108897085delinsGC | CA1278354264 | EDAR,RANBP2 | c.1169_1170delinsGC (p.Gly390=) c.1265_1266delinsGC (p.Gly422=) c.1316_1317delinsGC (p.Gly439=) c.1220_1221delinsGC (p.Gly407=) c.596_597delinsGC (p.Gly199=) c.1409_1410delinsGC (p.Gly470=) c.1313_1314delinsGC (p.Gly438=) c.8370+124038_8370+124039delinsGC (n.8370+124038_8370+124039delinsGC) | |
2 | g.108897085C>A | CA348048074 | EDAR,RANBP2 | c.1169G>T (p.Gly390Val) c.1265G>T (p.Gly422Val) c.1316G>T (p.Gly439Val) c.1220G>T (p.Gly407Val) c.596G>T (p.Gly199Val) c.1409G>T (p.Gly470Val) c.1313G>T (p.Gly438Val) c.8370+124039C>A (n.8370+124039C>A) | |
2 | g.108897085C= | CA1278354265 | EDAR,RANBP2 | c.1169G= (p.Gly390=) c.1265G= (p.Gly422=) c.1316G= (p.Gly439=) c.1220G= (p.Gly407=) c.596G= (p.Gly199=) c.1409G= (p.Gly470=) c.1313G= (p.Gly438=) c.8370+124039C= (n.8370+124039C=) | |
2 | g.108897085C>G | CA348048075 | EDAR,RANBP2 | c.1169G>C (p.Gly390Ala) c.1265G>C (p.Gly422Ala) c.1316G>C (p.Gly439Ala) c.1220G>C (p.Gly407Ala) c.596G>C (p.Gly199Ala) c.1409G>C (p.Gly470Ala) c.1313G>C (p.Gly438Ala) c.8370+124039C>G (n.8370+124039C>G) | |
2 | g.108897085C>T | CA348048076 | EDAR,RANBP2 | c.1169G>A (p.Gly390Asp) c.1265G>A (p.Gly422Asp) c.1316G>A (p.Gly439Asp) c.1220G>A (p.Gly407Asp) c.596G>A (p.Gly199Asp) c.1409G>A (p.Gly470Asp) c.1313G>A (p.Gly438Asp) c.8370+124039C>T (n.8370+124039C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108897089dup | CA891842934 | EDAR,RANBP2 | c.1169dup (p.Met391HisfsTer9) c.1265dup (p.Met423HisfsTer9) c.1316dup (p.Met440HisfsTer9) c.1220dup (p.Met408HisfsTer9) c.596dup (p.Met200HisfsTer9) c.1409dup (p.Met471HisfsTer9) c.1313dup (p.Met439HisfsTer9) c.8370+124043dup (n.8370+124043dup) | ClinVar dbSNP |
2 | g.108897089del | CA916082193 | EDAR,RANBP2 | c.1169del (p.Gly390AlafsTer2) c.1265del (p.Gly422AlafsTer2) c.1316del (p.Gly439AlafsTer2) c.1220del (p.Gly407AlafsTer2) c.596del (p.Gly199AlafsTer2) c.1409del (p.Gly470AlafsTer2) c.1313del (p.Gly438AlafsTer2) c.8370+124043del (n.8370+124043del) | ClinVar dbSNP |
2 | g.108897086C>A | CA348048077 | EDAR,RANBP2 | c.1168G>T (p.Gly390Cys) c.1264G>T (p.Gly422Cys) c.1315G>T (p.Gly439Cys) c.1219G>T (p.Gly407Cys) c.595G>T (p.Gly199Cys) c.1408G>T (p.Gly470Cys) c.1312G>T (p.Gly438Cys) c.8370+124040C>A (n.8370+124040C>A) | |
2 | g.108897086C= | CA1278354266 | EDAR,RANBP2 | c.1168G= (p.Gly390=) c.1264G= (p.Gly422=) c.1315G= (p.Gly439=) c.1219G= (p.Gly407=) c.595G= (p.Gly199=) c.1408G= (p.Gly470=) c.1312G= (p.Gly438=) c.8370+124040C= (n.8370+124040C=) | |
2 | g.108897086C>G | CA348048078 | EDAR,RANBP2 | c.1168G>C (p.Gly390Arg) c.1264G>C (p.Gly422Arg) c.1315G>C (p.Gly439Arg) c.1219G>C (p.Gly407Arg) c.595G>C (p.Gly199Arg) c.1408G>C (p.Gly470Arg) c.1312G>C (p.Gly438Arg) c.8370+124040C>G (n.8370+124040C>G) | |
2 | g.108897086C>T | CA348048079 | EDAR,RANBP2 | c.1168G>A (p.Gly390Ser) c.1264G>A (p.Gly422Ser) c.1315G>A (p.Gly439Ser) c.1219G>A (p.Gly407Ser) c.595G>A (p.Gly199Ser) c.1408G>A (p.Gly470Ser) c.1312G>A (p.Gly438Ser) c.8370+124040C>T (n.8370+124040C>T) | dbSNP gnomAD v3 gnomAD v4 |