Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897035T>ACA348047927EDAR,RANBP2c.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)
2g.108897035T>CCA348047929EDAR,RANBP2c.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)
2g.108897035T>GCA348047931EDAR,RANBP2c.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)
2g.108897036G>ACA428204012EDAR,RANBP2c.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
2g.108897036G>CCA348047933EDAR,RANBP2c.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
2g.108897036G>TCA348047935EDAR,RANBP2c.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)
2g.108897037T>ACA348047938EDAR,RANBP2c.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)
2g.108897037T>CCA348047941EDAR,RANBP2c.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)
2g.108897037T>GCA348047940EDAR,RANBP2c.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)
2g.108897038A>CCA348047943EDAR,RANBP2c.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)
2g.108897038A>GCA348047945EDAR,RANBP2c.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)
2g.108897038A>TCA348047947EDAR,RANBP2c.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)
2g.108897039G>ACA428204018EDAR,RANBP2c.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)
2g.108897039G>CCA428204019EDAR,RANBP2c.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
2g.108897039G=CA1278354242EDAR,RANBP2c.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=)
2g.108897039G>TCA428204020EDAR,RANBP2c.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)
2g.108897040C>ACA348047949EDAR,RANBP2c.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)
2g.108897040C=CA1278354243EDAR,RANBP2c.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=)
2g.108897040C>GCA348047951EDAR,RANBP2c.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
2g.108897040C>TCA348047953EDAR,RANBP2c.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
2g.108897041C>ACA348047955EDAR,RANBP2c.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)
2g.108897041C=CA1278354244EDAR,RANBP2c.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=)
2g.108897041C>GCA348047957EDAR,RANBP2c.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
2g.108897041C>TCA348047959EDAR,RANBP2c.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)
2g.108897042T>ACA428204024EDAR,RANBP2c.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)
2g.108897042T>CCA428204025EDAR,RANBP2c.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
2g.108897042T>GCA428204027EDAR,RANBP2c.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)
2g.108897042T=CA1278354245EDAR,RANBP2c.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=)
2g.108897043G>ACA348047962EDAR,RANBP2c.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)
2g.108897043G>CCA348047963EDAR,RANBP2c.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)
2g.108897043G>TCA348047965EDAR,RANBP2c.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)
2g.108897044C>ACA348047971EDAR,RANBP2c.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)
2g.108897044C>GCA348047969EDAR,RANBP2c.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)
2g.108897044C>TCA348047967EDAR,RANBP2c.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
2g.108897045C>ACA428204033EDAR,RANBP2c.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)
2g.108897045C=CA1278354246EDAR,RANBP2c.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=)
2g.108897045C>GCA428204034EDAR,RANBP2c.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
2g.108897045C>TCA1824799EDAR,RANBP2c.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
2g.108897046G>ACA348047975EDAR,RANBP2c.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
2g.108897046G>CCA348047979EDAR,RANBP2c.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
2g.108897046G=CA1278354247EDAR,RANBP2c.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=)
2g.108897046G>TCA348047977EDAR,RANBP2c.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)
2g.108897047T>ACA348047982EDAR,RANBP2c.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)
2g.108897047T>CCA348047984EDAR,RANBP2c.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)
2g.108897047T>GCA348047986EDAR,RANBP2c.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)
2g.108897048G>ACA428204043EDAR,RANBP2c.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
2g.108897048G>CCA348047987EDAR,RANBP2c.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)
2g.108897048G=CA1278354248EDAR,RANBP2c.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=)
2g.108897048G>TCA348047989EDAR,RANBP2c.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)
2g.108897049C>ACA348047991EDAR,RANBP2c.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)

Number of alleles fetched