Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897130C>ACA348048172EDAR,RANBP2c.1124G>T (p.Arg375Leu)
c.1220G>T (p.Arg407Leu)
c.1271G>T (p.Arg424Leu)
c.1175G>T (p.Arg392Leu)
c.551G>T (p.Arg184Leu)
c.1364G>T (p.Arg455Leu)
c.1268G>T (p.Arg423Leu)
c.8370+124084C>A (n.8370+124084C>A)
2g.108897130C=CA1278354290EDAR,RANBP2c.1124G= (p.Arg375=)
c.1220G= (p.Arg407=)
c.1271G= (p.Arg424=)
c.1175G= (p.Arg392=)
c.551G= (p.Arg184=)
c.1364G= (p.Arg455=)
c.1268G= (p.Arg423=)
c.8370+124084C= (n.8370+124084C=)
2g.108897130C>GCA348048171EDAR,RANBP2c.1124G>C (p.Arg375Pro)
c.1220G>C (p.Arg407Pro)
c.1271G>C (p.Arg424Pro)
c.1175G>C (p.Arg392Pro)
c.551G>C (p.Arg184Pro)
c.1364G>C (p.Arg455Pro)
c.1268G>C (p.Arg423Pro)
c.8370+124084C>G (n.8370+124084C>G)
 gnomAD v4
2g.108897130C>TCA253631EDAR,RANBP2c.1124G>A (p.Arg375His)
c.1220G>A (p.Arg407His)
c.1271G>A (p.Arg424His)
c.1175G>A (p.Arg392His)
c.551G>A (p.Arg184His)
c.1364G>A (p.Arg455His)
c.1268G>A (p.Arg423His)
c.8370+124084C>T (n.8370+124084C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108897131G>ACA1824814EDAR,RANBP2c.1123C>T (p.Arg375Cys)
c.1219C>T (p.Arg407Cys)
c.1270C>T (p.Arg424Cys)
c.1174C>T (p.Arg392Cys)
c.550C>T (p.Arg184Cys)
c.1363C>T (p.Arg455Cys)
c.1267C>T (p.Arg423Cys)
c.8370+124085G>A (n.8370+124085G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108897131G>CCA348048173EDAR,RANBP2c.1123C>G (p.Arg375Gly)
c.1219C>G (p.Arg407Gly)
c.1270C>G (p.Arg424Gly)
c.1174C>G (p.Arg392Gly)
c.550C>G (p.Arg184Gly)
c.1363C>G (p.Arg455Gly)
c.1267C>G (p.Arg423Gly)
c.8370+124085G>C (n.8370+124085G>C)
2g.108897131G=CA1278354291EDAR,RANBP2c.1123C= (p.Arg375=)
c.1219C= (p.Arg407=)
c.1270C= (p.Arg424=)
c.1174C= (p.Arg392=)
c.550C= (p.Arg184=)
c.1363C= (p.Arg455=)
c.1267C= (p.Arg423=)
c.8370+124085G= (n.8370+124085G=)
2g.108897131G>TCA348048174EDAR,RANBP2c.1123C>A (p.Arg375Ser)
c.1219C>A (p.Arg407Ser)
c.1270C>A (p.Arg424Ser)
c.1174C>A (p.Arg392Ser)
c.550C>A (p.Arg184Ser)
c.1363C>A (p.Arg455Ser)
c.1267C>A (p.Arg423Ser)
c.8370+124085G>T (n.8370+124085G>T)
2g.108897132C>ACA348048175EDAR,RANBP2c.1122G>T (p.Trp374Cys)
c.1218G>T (p.Trp406Cys)
c.1269G>T (p.Trp423Cys)
c.1173G>T (p.Trp391Cys)
c.549G>T (p.Trp183Cys)
c.1362G>T (p.Trp454Cys)
c.1266G>T (p.Trp422Cys)
c.8370+124086C>A (n.8370+124086C>A)
2g.108897132C>GCA348048176EDAR,RANBP2c.1122G>C (p.Trp374Cys)
c.1218G>C (p.Trp406Cys)
c.1269G>C (p.Trp423Cys)
c.1173G>C (p.Trp391Cys)
c.549G>C (p.Trp183Cys)
c.1362G>C (p.Trp454Cys)
c.1266G>C (p.Trp422Cys)
c.8370+124086C>G (n.8370+124086C>G)
2g.108897132C>TCA348048177EDAR,RANBP2c.1122G>A (p.Trp374Ter)
c.1218G>A (p.Trp406Ter)
c.1269G>A (p.Trp423Ter)
c.1173G>A (p.Trp391Ter)
c.549G>A (p.Trp183Ter)
c.1362G>A (p.Trp454Ter)
c.1266G>A (p.Trp422Ter)
c.8370+124086C>T (n.8370+124086C>T)
2g.108897133C>ACA53464866EDAR,RANBP2c.1121G>T (p.Trp374Leu)
c.1217G>T (p.Trp406Leu)
c.1268G>T (p.Trp423Leu)
c.1172G>T (p.Trp391Leu)
c.548G>T (p.Trp183Leu)
c.1361G>T (p.Trp454Leu)
c.1265G>T (p.Trp422Leu)
c.8370+124087C>A (n.8370+124087C>A)
 dbSNP
2g.108897133C=CA1278354292EDAR,RANBP2c.1121G= (p.Trp374=)
c.1217G= (p.Trp406=)
c.1268G= (p.Trp423=)
c.1172G= (p.Trp391=)
c.548G= (p.Trp183=)
c.1361G= (p.Trp454=)
c.1265G= (p.Trp422=)
c.8370+124087C= (n.8370+124087C=)
2g.108897133C>GCA348048178EDAR,RANBP2c.1121G>C (p.Trp374Ser)
c.1217G>C (p.Trp406Ser)
c.1268G>C (p.Trp423Ser)
c.1172G>C (p.Trp391Ser)
c.548G>C (p.Trp183Ser)
c.1361G>C (p.Trp454Ser)
c.1265G>C (p.Trp422Ser)
c.8370+124087C>G (n.8370+124087C>G)
2g.108897133C>TCA10588306EDAR,RANBP2c.1121G>A (p.Trp374Ter)
c.1217G>A (p.Trp406Ter)
c.1268G>A (p.Trp423Ter)
c.1172G>A (p.Trp391Ter)
c.548G>A (p.Trp183Ter)
c.1361G>A (p.Trp454Ter)
c.1265G>A (p.Trp422Ter)
c.8370+124087C>T (n.8370+124087C>T)
 ClinVar dbSNP gnomAD v4
2g.108897134A>CCA348048179EDAR,RANBP2c.1120T>G (p.Trp374Gly)
c.1216T>G (p.Trp406Gly)
c.1267T>G (p.Trp423Gly)
c.1171T>G (p.Trp391Gly)
c.547T>G (p.Trp183Gly)
c.1360T>G (p.Trp454Gly)
c.1264T>G (p.Trp422Gly)
c.8370+124088A>C (n.8370+124088A>C)
2g.108897134A>GCA348048180EDAR,RANBP2c.1120T>C (p.Trp374Arg)
c.1216T>C (p.Trp406Arg)
c.1267T>C (p.Trp423Arg)
c.1171T>C (p.Trp391Arg)
c.547T>C (p.Trp183Arg)
c.1360T>C (p.Trp454Arg)
c.1264T>C (p.Trp422Arg)
c.8370+124088A>G (n.8370+124088A>G)
2g.108897134A>TCA348048181EDAR,RANBP2c.1120T>A (p.Trp374Arg)
c.1216T>A (p.Trp406Arg)
c.1267T>A (p.Trp423Arg)
c.1171T>A (p.Trp391Arg)
c.547T>A (p.Trp183Arg)
c.1360T>A (p.Trp454Arg)
c.1264T>A (p.Trp422Arg)
c.8370+124088A>T (n.8370+124088A>T)
2g.108897135C>ACA428204164EDAR,RANBP2c.1119G>T (p.Thr373=)
c.1215G>T (p.Thr405=)
c.1266G>T (p.Thr422=)
c.1170G>T (p.Thr390=)
c.546G>T (p.Thr182=)
c.1359G>T (p.Thr453=)
c.1263G>T (p.Thr421=)
c.8370+124089C>A (n.8370+124089C>A)
2g.108897135C=CA1278354293EDAR,RANBP2c.1119G= (p.Thr373=)
c.1215G= (p.Thr405=)
c.1266G= (p.Thr422=)
c.1170G= (p.Thr390=)
c.546G= (p.Thr182=)
c.1359G= (p.Thr453=)
c.1263G= (p.Thr421=)
c.8370+124089C= (n.8370+124089C=)
2g.108897135C>GCA428204165EDAR,RANBP2c.1119G>C (p.Thr373=)
c.1215G>C (p.Thr405=)
c.1266G>C (p.Thr422=)
c.1170G>C (p.Thr390=)
c.546G>C (p.Thr182=)
c.1359G>C (p.Thr453=)
c.1263G>C (p.Thr421=)
c.8370+124089C>G (n.8370+124089C>G)
 dbSNP gnomAD v2
2g.108897135C>TCA1824815EDAR,RANBP2c.1119G>A (p.Thr373=)
c.1215G>A (p.Thr405=)
c.1266G>A (p.Thr422=)
c.1170G>A (p.Thr390=)
c.546G>A (p.Thr182=)
c.1359G>A (p.Thr453=)
c.1263G>A (p.Thr421=)
c.8370+124089C>T (n.8370+124089C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897136G>ACA348048182EDAR,RANBP2c.1118C>T (p.Thr373Met)
c.1214C>T (p.Thr405Met)
c.1265C>T (p.Thr422Met)
c.1169C>T (p.Thr390Met)
c.545C>T (p.Thr182Met)
c.1358C>T (p.Thr453Met)
c.1262C>T (p.Thr421Met)
c.8370+124090G>A (n.8370+124090G>A)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.108897136G>CCA348048183EDAR,RANBP2c.1118C>G (p.Thr373Arg)
c.1214C>G (p.Thr405Arg)
c.1265C>G (p.Thr422Arg)
c.1169C>G (p.Thr390Arg)
c.545C>G (p.Thr182Arg)
c.1358C>G (p.Thr453Arg)
c.1262C>G (p.Thr421Arg)
c.8370+124090G>C (n.8370+124090G>C)
2g.108897136G=CA1278354294EDAR,RANBP2c.1118C= (p.Thr373=)
c.1214C= (p.Thr405=)
c.1265C= (p.Thr422=)
c.1169C= (p.Thr390=)
c.545C= (p.Thr182=)
c.1358C= (p.Thr453=)
c.1262C= (p.Thr421=)
c.8370+124090G= (n.8370+124090G=)
2g.108897136G>TCA348048184EDAR,RANBP2c.1118C>A (p.Thr373Lys)
c.1214C>A (p.Thr405Lys)
c.1265C>A (p.Thr422Lys)
c.1169C>A (p.Thr390Lys)
c.545C>A (p.Thr182Lys)
c.1358C>A (p.Thr453Lys)
c.1262C>A (p.Thr421Lys)
c.8370+124090G>T (n.8370+124090G>T)
2g.108897137T>ACA348048185EDAR,RANBP2c.1117A>T (p.Thr373Ser)
c.1213A>T (p.Thr405Ser)
c.1264A>T (p.Thr422Ser)
c.1168A>T (p.Thr390Ser)
c.544A>T (p.Thr182Ser)
c.1357A>T (p.Thr453Ser)
c.1261A>T (p.Thr421Ser)
c.8370+124091T>A (n.8370+124091T>A)
2g.108897137T>CCA348048186EDAR,RANBP2c.1117A>G (p.Thr373Ala)
c.1213A>G (p.Thr405Ala)
c.1264A>G (p.Thr422Ala)
c.1168A>G (p.Thr390Ala)
c.544A>G (p.Thr182Ala)
c.1357A>G (p.Thr453Ala)
c.1261A>G (p.Thr421Ala)
c.8370+124091T>C (n.8370+124091T>C)
2g.108897137T>GCA348048187EDAR,RANBP2c.1117A>C (p.Thr373Pro)
c.1213A>C (p.Thr405Pro)
c.1264A>C (p.Thr422Pro)
c.1168A>C (p.Thr390Pro)
c.544A>C (p.Thr182Pro)
c.1357A>C (p.Thr453Pro)
c.1261A>C (p.Thr421Pro)
c.8370+124091T>G (n.8370+124091T>G)
2g.108897138T>ACA348048188EDAR,RANBP2c.1116A>T (p.Lys372Asn)
c.1212A>T (p.Lys404Asn)
c.1263A>T (p.Lys421Asn)
c.1167A>T (p.Lys389Asn)
c.543A>T (p.Lys181Asn)
c.1356A>T (p.Lys452Asn)
c.1260A>T (p.Lys420Asn)
c.8370+124092T>A (n.8370+124092T>A)
2g.108897138T>CCA428204170EDAR,RANBP2c.1116A>G (p.Lys372=)
c.1212A>G (p.Lys404=)
c.1263A>G (p.Lys421=)
c.1167A>G (p.Lys389=)
c.543A>G (p.Lys181=)
c.1356A>G (p.Lys452=)
c.1260A>G (p.Lys420=)
c.8370+124092T>C (n.8370+124092T>C)
2g.108897138T>GCA348048189EDAR,RANBP2c.1116A>C (p.Lys372Asn)
c.1212A>C (p.Lys404Asn)
c.1263A>C (p.Lys421Asn)
c.1167A>C (p.Lys389Asn)
c.543A>C (p.Lys181Asn)
c.1356A>C (p.Lys452Asn)
c.1260A>C (p.Lys420Asn)
c.8370+124092T>G (n.8370+124092T>G)
2g.108897139T>ACA348048190EDAR,RANBP2c.1115A>T (p.Lys372Ile)
c.1211A>T (p.Lys404Ile)
c.1262A>T (p.Lys421Ile)
c.1166A>T (p.Lys389Ile)
c.542A>T (p.Lys181Ile)
c.1355A>T (p.Lys452Ile)
c.1259A>T (p.Lys420Ile)
c.8370+124093T>A (n.8370+124093T>A)
2g.108897139T>CCA348048192EDAR,RANBP2c.1115A>G (p.Lys372Arg)
c.1211A>G (p.Lys404Arg)
c.1262A>G (p.Lys421Arg)
c.1166A>G (p.Lys389Arg)
c.542A>G (p.Lys181Arg)
c.1355A>G (p.Lys452Arg)
c.1259A>G (p.Lys420Arg)
c.8370+124093T>C (n.8370+124093T>C)
2g.108897139T>GCA348048191EDAR,RANBP2c.1115A>C (p.Lys372Thr)
c.1211A>C (p.Lys404Thr)
c.1262A>C (p.Lys421Thr)
c.1166A>C (p.Lys389Thr)
c.542A>C (p.Lys181Thr)
c.1355A>C (p.Lys452Thr)
c.1259A>C (p.Lys420Thr)
c.8370+124093T>G (n.8370+124093T>G)
2g.108897140T>ACA348048193EDAR,RANBP2c.1114A>T (p.Lys372Ter)
c.1210A>T (p.Lys404Ter)
c.1261A>T (p.Lys421Ter)
c.1165A>T (p.Lys389Ter)
c.541A>T (p.Lys181Ter)
c.1354A>T (p.Lys452Ter)
c.1258A>T (p.Lys420Ter)
c.8370+124094T>A (n.8370+124094T>A)
2g.108897140T>CCA348048194EDAR,RANBP2c.1114A>G (p.Lys372Glu)
c.1210A>G (p.Lys404Glu)
c.1261A>G (p.Lys421Glu)
c.1165A>G (p.Lys389Glu)
c.541A>G (p.Lys181Glu)
c.1354A>G (p.Lys452Glu)
c.1258A>G (p.Lys420Glu)
c.8370+124094T>C (n.8370+124094T>C)
2g.108897140T>GCA348048195EDAR,RANBP2c.1114A>C (p.Lys372Gln)
c.1210A>C (p.Lys404Gln)
c.1261A>C (p.Lys421Gln)
c.1165A>C (p.Lys389Gln)
c.541A>C (p.Lys181Gln)
c.1354A>C (p.Lys452Gln)
c.1258A>C (p.Lys420Gln)
c.8370+124094T>G (n.8370+124094T>G)
 COSMIC COSMIC
2g.108897141C>ACA428204174EDAR,RANBP2c.1113G>T (p.Val371=)
c.1209G>T (p.Val403=)
c.1260G>T (p.Val420=)
c.1164G>T (p.Val388=)
c.540G>T (p.Val180=)
c.1353G>T (p.Val451=)
c.1257G>T (p.Val419=)
c.8370+124095C>A (n.8370+124095C>A)
2g.108897141C>GCA428204175EDAR,RANBP2c.1113G>C (p.Val371=)
c.1209G>C (p.Val403=)
c.1260G>C (p.Val420=)
c.1164G>C (p.Val388=)
c.540G>C (p.Val180=)
c.1353G>C (p.Val451=)
c.1257G>C (p.Val419=)
c.8370+124095C>G (n.8370+124095C>G)
2g.108897141C>TCA428204176EDAR,RANBP2c.1113G>A (p.Val371=)
c.1209G>A (p.Val403=)
c.1260G>A (p.Val420=)
c.1164G>A (p.Val388=)
c.540G>A (p.Val180=)
c.1353G>A (p.Val451=)
c.1257G>A (p.Val419=)
c.8370+124095C>T (n.8370+124095C>T)
 COSMIC COSMIC
2g.108897142A=CA1278354295EDAR,RANBP2c.1112T= (p.Val371=)
c.1208T= (p.Val403=)
c.1259T= (p.Val420=)
c.1163T= (p.Val388=)
c.539T= (p.Val180=)
c.1352T= (p.Val451=)
c.1256T= (p.Val419=)
c.8370+124096A= (n.8370+124096A=)
2g.108897142A>CCA348048196EDAR,RANBP2c.1112T>G (p.Val371Gly)
c.1208T>G (p.Val403Gly)
c.1259T>G (p.Val420Gly)
c.1163T>G (p.Val388Gly)
c.539T>G (p.Val180Gly)
c.1352T>G (p.Val451Gly)
c.1256T>G (p.Val419Gly)
c.8370+124096A>C (n.8370+124096A>C)
 gnomAD v4
2g.108897142A>GCA348048197EDAR,RANBP2c.1112T>C (p.Val371Ala)
c.1208T>C (p.Val403Ala)
c.1259T>C (p.Val420Ala)
c.1163T>C (p.Val388Ala)
c.539T>C (p.Val180Ala)
c.1352T>C (p.Val451Ala)
c.1256T>C (p.Val419Ala)
c.8370+124096A>G (n.8370+124096A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897142A>TCA348048198EDAR,RANBP2c.1112T>A (p.Val371Glu)
c.1208T>A (p.Val403Glu)
c.1259T>A (p.Val420Glu)
c.1163T>A (p.Val388Glu)
c.539T>A (p.Val180Glu)
c.1352T>A (p.Val451Glu)
c.1256T>A (p.Val419Glu)
c.8370+124096A>T (n.8370+124096A>T)
2g.108897143C>ACA348048199EDAR,RANBP2c.1111G>T (p.Val371Leu)
c.1207G>T (p.Val403Leu)
c.1258G>T (p.Val420Leu)
c.1162G>T (p.Val388Leu)
c.538G>T (p.Val180Leu)
c.1351G>T (p.Val451Leu)
c.1255G>T (p.Val419Leu)
c.8370+124097C>A (n.8370+124097C>A)
2g.108897143C>GCA348048200EDAR,RANBP2c.1111G>C (p.Val371Leu)
c.1207G>C (p.Val403Leu)
c.1258G>C (p.Val420Leu)
c.1162G>C (p.Val388Leu)
c.538G>C (p.Val180Leu)
c.1351G>C (p.Val451Leu)
c.1255G>C (p.Val419Leu)
c.8370+124097C>G (n.8370+124097C>G)
2g.108897143C>TCA348048201EDAR,RANBP2c.1111G>A (p.Val371Met)
c.1207G>A (p.Val403Met)
c.1258G>A (p.Val420Met)
c.1162G>A (p.Val388Met)
c.538G>A (p.Val180Met)
c.1351G>A (p.Val451Met)
c.1255G>A (p.Val419Met)
c.8370+124097C>T (n.8370+124097C>T)
2g.108897144A>CCA428204182EDAR,RANBP2c.1110T>G (p.Val370=)
c.1206T>G (p.Val402=)
c.1257T>G (p.Val419=)
c.1161T>G (p.Val387=)
c.537T>G (p.Val179=)
c.1350T>G (p.Val450=)
c.1254T>G (p.Val418=)
c.8370+124098A>C (n.8370+124098A>C)
2g.108897144A>GCA428204178EDAR,RANBP2c.1110T>C (p.Val370=)
c.1206T>C (p.Val402=)
c.1257T>C (p.Val419=)
c.1161T>C (p.Val387=)
c.537T>C (p.Val179=)
c.1350T>C (p.Val450=)
c.1254T>C (p.Val418=)
c.8370+124098A>G (n.8370+124098A>G)
2g.108897144A>TCA428204180EDAR,RANBP2c.1110T>A (p.Val370=)
c.1206T>A (p.Val402=)
c.1257T>A (p.Val419=)
c.1161T>A (p.Val387=)
c.537T>A (p.Val179=)
c.1350T>A (p.Val450=)
c.1254T>A (p.Val418=)
c.8370+124098A>T (n.8370+124098A>T)
2g.108897145A=CA1278354296EDAR,RANBP2c.1109T= (p.Val370=)
c.1205T= (p.Val402=)
c.1256T= (p.Val419=)
c.1160T= (p.Val387=)
c.536T= (p.Val179=)
c.1349T= (p.Val450=)
c.1253T= (p.Val418=)
c.8370+124099A= (n.8370+124099A=)
2g.108897145A>CCA348048202EDAR,RANBP2c.1109T>G (p.Val370Gly)
c.1205T>G (p.Val402Gly)
c.1256T>G (p.Val419Gly)
c.1160T>G (p.Val387Gly)
c.536T>G (p.Val179Gly)
c.1349T>G (p.Val450Gly)
c.1253T>G (p.Val418Gly)
c.8370+124099A>C (n.8370+124099A>C)
 dbSNP
2g.108897145A>GCA117813EDAR,RANBP2c.1109T>C (p.Val370Ala)
c.1205T>C (p.Val402Ala)
c.1256T>C (p.Val419Ala)
c.1160T>C (p.Val387Ala)
c.536T>C (p.Val179Ala)
c.1349T>C (p.Val450Ala)
c.1253T>C (p.Val418Ala)
c.8370+124099A>G (n.8370+124099A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897145A>TCA348048203EDAR,RANBP2c.1109T>A (p.Val370Asp)
c.1205T>A (p.Val402Asp)
c.1256T>A (p.Val419Asp)
c.1160T>A (p.Val387Asp)
c.536T>A (p.Val179Asp)
c.1349T>A (p.Val450Asp)
c.1253T>A (p.Val418Asp)
c.8370+124099A>T (n.8370+124099A>T)
2g.108897146C>ACA348048206EDAR,RANBP2c.1108G>T (p.Val370Phe)
c.1204G>T (p.Val402Phe)
c.1255G>T (p.Val419Phe)
c.1159G>T (p.Val387Phe)
c.535G>T (p.Val179Phe)
c.1348G>T (p.Val450Phe)
c.1252G>T (p.Val418Phe)
c.8370+124100C>A (n.8370+124100C>A)
2g.108897146C=CA1278354297EDAR,RANBP2c.1108G= (p.Val370=)
c.1204G= (p.Val402=)
c.1255G= (p.Val419=)
c.1159G= (p.Val387=)
c.535G= (p.Val179=)
c.1348G= (p.Val450=)
c.1252G= (p.Val418=)
c.8370+124100C= (n.8370+124100C=)
2g.108897146C>GCA348048205EDAR,RANBP2c.1108G>C (p.Val370Leu)
c.1204G>C (p.Val402Leu)
c.1255G>C (p.Val419Leu)
c.1159G>C (p.Val387Leu)
c.535G>C (p.Val179Leu)
c.1348G>C (p.Val450Leu)
c.1252G>C (p.Val418Leu)
c.8370+124100C>G (n.8370+124100C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.108897146C>TCA348048204EDAR,RANBP2c.1108G>A (p.Val370Ile)
c.1204G>A (p.Val402Ile)
c.1255G>A (p.Val419Ile)
c.1159G>A (p.Val387Ile)
c.535G>A (p.Val179Ile)
c.1348G>A (p.Val450Ile)
c.1252G>A (p.Val418Ile)
c.8370+124100C>T (n.8370+124100C>T)
2g.108897147A=CA1278354298EDAR,RANBP2c.1107T= (p.Ala369=)
c.1203T= (p.Ala401=)
c.1254T= (p.Ala418=)
c.1158T= (p.Ala386=)
c.534T= (p.Ala178=)
c.1347T= (p.Ala449=)
c.1251T= (p.Ala417=)
c.8370+124101A= (n.8370+124101A=)
2g.108897147A>CCA428204187EDAR,RANBP2c.1107T>G (p.Ala369=)
c.1203T>G (p.Ala401=)
c.1254T>G (p.Ala418=)
c.1158T>G (p.Ala386=)
c.534T>G (p.Ala178=)
c.1347T>G (p.Ala449=)
c.1251T>G (p.Ala417=)
c.8370+124101A>C (n.8370+124101A>C)
2g.108897147A>GCA428204188EDAR,RANBP2c.1107T>C (p.Ala369=)
c.1203T>C (p.Ala401=)
c.1254T>C (p.Ala418=)
c.1158T>C (p.Ala386=)
c.534T>C (p.Ala178=)
c.1347T>C (p.Ala449=)
c.1251T>C (p.Ala417=)
c.8370+124101A>G (n.8370+124101A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.108897147A>TCA428204189EDAR,RANBP2c.1107T>A (p.Ala369=)
c.1203T>A (p.Ala401=)
c.1254T>A (p.Ala418=)
c.1158T>A (p.Ala386=)
c.534T>A (p.Ala178=)
c.1347T>A (p.Ala449=)
c.1251T>A (p.Ala417=)
c.8370+124101A>T (n.8370+124101A>T)
2g.108897148G>ACA348048207EDAR,RANBP2c.1106C>T (p.Ala369Val)
c.1202C>T (p.Ala401Val)
c.1253C>T (p.Ala418Val)
c.1157C>T (p.Ala386Val)
c.533C>T (p.Ala178Val)
c.1346C>T (p.Ala449Val)
c.1250C>T (p.Ala417Val)
c.8370+124102G>A (n.8370+124102G>A)
2g.108897148G>CCA348048208EDAR,RANBP2c.1106C>G (p.Ala369Gly)
c.1202C>G (p.Ala401Gly)
c.1253C>G (p.Ala418Gly)
c.1157C>G (p.Ala386Gly)
c.533C>G (p.Ala178Gly)
c.1346C>G (p.Ala449Gly)
c.1250C>G (p.Ala417Gly)
c.8370+124102G>C (n.8370+124102G>C)
2g.108897148G>TCA348048209EDAR,RANBP2c.1106C>A (p.Ala369Asp)
c.1202C>A (p.Ala401Asp)
c.1253C>A (p.Ala418Asp)
c.1157C>A (p.Ala386Asp)
c.533C>A (p.Ala178Asp)
c.1346C>A (p.Ala449Asp)
c.1250C>A (p.Ala417Asp)
c.8370+124102G>T (n.8370+124102G>T)
2g.108897149C>ACA348048210EDAR,RANBP2c.1105G>T (p.Ala369Ser)
c.1201G>T (p.Ala401Ser)
c.1252G>T (p.Ala418Ser)
c.1156G>T (p.Ala386Ser)
c.532G>T (p.Ala178Ser)
c.1345G>T (p.Ala449Ser)
c.1249G>T (p.Ala417Ser)
c.8370+124103C>A (n.8370+124103C>A)
 gnomAD v4
2g.108897149C=CA1278354299EDAR,RANBP2c.1105G= (p.Ala369=)
c.1201G= (p.Ala401=)
c.1252G= (p.Ala418=)
c.1156G= (p.Ala386=)
c.532G= (p.Ala178=)
c.1345G= (p.Ala449=)
c.1249G= (p.Ala417=)
c.8370+124103C= (n.8370+124103C=)
2g.108897149C>GCA1824816EDAR,RANBP2c.1105G>C (p.Ala369Pro)
c.1201G>C (p.Ala401Pro)
c.1252G>C (p.Ala418Pro)
c.1156G>C (p.Ala386Pro)
c.532G>C (p.Ala178Pro)
c.1345G>C (p.Ala449Pro)
c.1249G>C (p.Ala417Pro)
c.8370+124103C>G (n.8370+124103C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897149C>TCA348048212EDAR,RANBP2c.1105G>A (p.Ala369Thr)
c.1201G>A (p.Ala401Thr)
c.1252G>A (p.Ala418Thr)
c.1156G>A (p.Ala386Thr)
c.532G>A (p.Ala178Thr)
c.1345G>A (p.Ala449Thr)
c.1249G>A (p.Ala417Thr)
c.8370+124103C>T (n.8370+124103C>T)
 gnomAD v4
2g.108897150C>ACA348048214EDAR,RANBP2c.1104G>T (p.Lys368Asn)
c.1200G>T (p.Lys400Asn)
c.1251G>T (p.Lys417Asn)
c.1155G>T (p.Lys385Asn)
c.531G>T (p.Lys177Asn)
c.1344G>T (p.Lys448Asn)
c.1248G>T (p.Lys416Asn)
c.8370+124104C>A (n.8370+124104C>A)
2g.108897150C=CA1278354300EDAR,RANBP2c.1104G= (p.Lys368=)
c.1200G= (p.Lys400=)
c.1251G= (p.Lys417=)
c.1155G= (p.Lys385=)
c.531G= (p.Lys177=)
c.1344G= (p.Lys448=)
c.1248G= (p.Lys416=)
c.8370+124104C= (n.8370+124104C=)
2g.108897150C>GCA348048216EDAR,RANBP2c.1104G>C (p.Lys368Asn)
c.1200G>C (p.Lys400Asn)
c.1251G>C (p.Lys417Asn)
c.1155G>C (p.Lys385Asn)
c.531G>C (p.Lys177Asn)
c.1344G>C (p.Lys448Asn)
c.1248G>C (p.Lys416Asn)
c.8370+124104C>G (n.8370+124104C>G)
2g.108897150C>TCA1824817EDAR,RANBP2c.1104G>A (p.Lys368=)
c.1200G>A (p.Lys400=)
c.1251G>A (p.Lys417=)
c.1155G>A (p.Lys385=)
c.531G>A (p.Lys177=)
c.1344G>A (p.Lys448=)
c.1248G>A (p.Lys416=)
c.8370+124104C>T (n.8370+124104C>T)
 dbSNP ExAC
2g.108897151T>ACA348048219EDAR,RANBP2c.1103A>T (p.Lys368Met)
c.1199A>T (p.Lys400Met)
c.1250A>T (p.Lys417Met)
c.1154A>T (p.Lys385Met)
c.530A>T (p.Lys177Met)
c.1343A>T (p.Lys448Met)
c.1247A>T (p.Lys416Met)
c.8370+124105T>A (n.8370+124105T>A)
2g.108897151T>CCA348048221EDAR,RANBP2c.1103A>G (p.Lys368Arg)
c.1199A>G (p.Lys400Arg)
c.1250A>G (p.Lys417Arg)
c.1154A>G (p.Lys385Arg)
c.530A>G (p.Lys177Arg)
c.1343A>G (p.Lys448Arg)
c.1247A>G (p.Lys416Arg)
c.8370+124105T>C (n.8370+124105T>C)
2g.108897151T>GCA348048222EDAR,RANBP2c.1103A>C (p.Lys368Thr)
c.1199A>C (p.Lys400Thr)
c.1250A>C (p.Lys417Thr)
c.1154A>C (p.Lys385Thr)
c.530A>C (p.Lys177Thr)
c.1343A>C (p.Lys448Thr)
c.1247A>C (p.Lys416Thr)
c.8370+124105T>G (n.8370+124105T>G)
2g.108897152T>ACA348048224EDAR,RANBP2c.1102A>T (p.Lys368Ter)
c.1198A>T (p.Lys400Ter)
c.1249A>T (p.Lys417Ter)
c.1153A>T (p.Lys385Ter)
c.529A>T (p.Lys177Ter)
c.1342A>T (p.Lys448Ter)
c.1246A>T (p.Lys416Ter)
c.8370+124106T>A (n.8370+124106T>A)
2g.108897152T>CCA348048229EDAR,RANBP2c.1102A>G (p.Lys368Glu)
c.1198A>G (p.Lys400Glu)
c.1249A>G (p.Lys417Glu)
c.1153A>G (p.Lys385Glu)
c.529A>G (p.Lys177Glu)
c.1342A>G (p.Lys448Glu)
c.1246A>G (p.Lys416Glu)
c.8370+124106T>C (n.8370+124106T>C)
2g.108897152T>GCA348048226EDAR,RANBP2c.1102A>C (p.Lys368Gln)
c.1198A>C (p.Lys400Gln)
c.1249A>C (p.Lys417Gln)
c.1153A>C (p.Lys385Gln)
c.529A>C (p.Lys177Gln)
c.1342A>C (p.Lys448Gln)
c.1246A>C (p.Lys416Gln)
c.8370+124106T>G (n.8370+124106T>G)
2g.108897153C>ACA348048230EDAR,RANBP2c.1101G>T (p.Glu367Asp)
c.1197G>T (p.Glu399Asp)
c.1248G>T (p.Glu416Asp)
c.1152G>T (p.Glu384Asp)
c.528G>T (p.Glu176Asp)
c.1341G>T (p.Glu447Asp)
c.1245G>T (p.Glu415Asp)
c.8370+124107C>A (n.8370+124107C>A)
2g.108897153C>GCA348048232EDAR,RANBP2c.1101G>C (p.Glu367Asp)
c.1197G>C (p.Glu399Asp)
c.1248G>C (p.Glu416Asp)
c.1152G>C (p.Glu384Asp)
c.528G>C (p.Glu176Asp)
c.1341G>C (p.Glu447Asp)
c.1245G>C (p.Glu415Asp)
c.8370+124107C>G (n.8370+124107C>G)
2g.108897153C>TCA428204191EDAR,RANBP2c.1101G>A (p.Glu367=)
c.1197G>A (p.Glu399=)
c.1248G>A (p.Glu416=)
c.1152G>A (p.Glu384=)
c.528G>A (p.Glu176=)
c.1341G>A (p.Glu447=)
c.1245G>A (p.Glu415=)
c.8370+124107C>T (n.8370+124107C>T)
2g.108897154T>ACA348048234EDAR,RANBP2c.1100A>T (p.Glu367Val)
c.1196A>T (p.Glu399Val)
c.1247A>T (p.Glu416Val)
c.1151A>T (p.Glu384Val)
c.527A>T (p.Glu176Val)
c.1340A>T (p.Glu447Val)
c.1244A>T (p.Glu415Val)
c.8370+124108T>A (n.8370+124108T>A)
2g.108897154T>CCA348048236EDAR,RANBP2c.1100A>G (p.Glu367Gly)
c.1196A>G (p.Glu399Gly)
c.1247A>G (p.Glu416Gly)
c.1151A>G (p.Glu384Gly)
c.527A>G (p.Glu176Gly)
c.1340A>G (p.Glu447Gly)
c.1244A>G (p.Glu415Gly)
c.8370+124108T>C (n.8370+124108T>C)
2g.108897154T>GCA348048238EDAR,RANBP2c.1100A>C (p.Glu367Ala)
c.1196A>C (p.Glu399Ala)
c.1247A>C (p.Glu416Ala)
c.1151A>C (p.Glu384Ala)
c.527A>C (p.Glu176Ala)
c.1340A>C (p.Glu447Ala)
c.1244A>C (p.Glu415Ala)
c.8370+124108T>G (n.8370+124108T>G)
2g.108897155C>ACA348048240EDAR,RANBP2c.1099G>T (p.Glu367Ter)
c.1195G>T (p.Glu399Ter)
c.1246G>T (p.Glu416Ter)
c.1150G>T (p.Glu384Ter)
c.526G>T (p.Glu176Ter)
c.1339G>T (p.Glu447Ter)
c.1243G>T (p.Glu415Ter)
c.8370+124109C>A (n.8370+124109C>A)
2g.108897155C=CA1278354301EDAR,RANBP2c.1099G= (p.Glu367=)
c.1195G= (p.Glu399=)
c.1246G= (p.Glu416=)
c.1150G= (p.Glu384=)
c.526G= (p.Glu176=)
c.1339G= (p.Glu447=)
c.1243G= (p.Glu415=)
c.8370+124109C= (n.8370+124109C=)
2g.108897155C>GCA348048242EDAR,RANBP2c.1099G>C (p.Glu367Gln)
c.1195G>C (p.Glu399Gln)
c.1246G>C (p.Glu416Gln)
c.1150G>C (p.Glu384Gln)
c.526G>C (p.Glu176Gln)
c.1339G>C (p.Glu447Gln)
c.1243G>C (p.Glu415Gln)
c.8370+124109C>G (n.8370+124109C>G)
2g.108897155C>TCA1824818EDAR,RANBP2c.1099G>A (p.Glu367Lys)
c.1195G>A (p.Glu399Lys)
c.1246G>A (p.Glu416Lys)
c.1150G>A (p.Glu384Lys)
c.526G>A (p.Glu176Lys)
c.1339G>A (p.Glu447Lys)
c.1243G>A (p.Glu415Lys)
c.8370+124109C>T (n.8370+124109C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897156A>CCA427910818EDAR,RANBP2c.1098T>G (p.Ser366=)
c.1194T>G (p.Ser398=)
c.1245T>G (p.Ser415=)
c.1149T>G (p.Ser383=)
c.525T>G (p.Ser175=)
c.1338T>G (p.Ser446=)
c.1242T>G (p.Ser414=)
c.8370+124110A>C (n.8370+124110A>C)
2g.108897156A>GCA427910819EDAR,RANBP2c.1098T>C (p.Ser366=)
c.1194T>C (p.Ser398=)
c.1245T>C (p.Ser415=)
c.1149T>C (p.Ser383=)
c.525T>C (p.Ser175=)
c.1338T>C (p.Ser446=)
c.1242T>C (p.Ser414=)
c.8370+124110A>G (n.8370+124110A>G)
2g.108897156A>TCA427910820EDAR,RANBP2c.1098T>A (p.Ser366=)
c.1194T>A (p.Ser398=)
c.1245T>A (p.Ser415=)
c.1149T>A (p.Ser383=)
c.525T>A (p.Ser175=)
c.1338T>A (p.Ser446=)
c.1242T>A (p.Ser414=)
c.8370+124110A>T (n.8370+124110A>T)
2g.108897158_108897159delCA2580611686EDAR,RANBP2c.1097_1098del (p.Ser366Ter)
c.1193_1194del (p.Ser398Ter)
c.1244_1245del (p.Ser415Ter)
c.1148_1149del (p.Ser383Ter)
c.524_525del (p.Ser175Ter)
c.1337_1338del (p.Ser446Ter)
c.1241_1242del (p.Ser414Ter)
c.8370+124112_8370+124113del (n.8370+124112_8370+124113del)
 ClinVar dbSNP
2g.108897157G>ACA348048245EDAR,RANBP2c.1097C>T (p.Ser366Phe)
c.1193C>T (p.Ser398Phe)
c.1244C>T (p.Ser415Phe)
c.1148C>T (p.Ser383Phe)
c.524C>T (p.Ser175Phe)
c.1337C>T (p.Ser446Phe)
c.1241C>T (p.Ser414Phe)
c.8370+124111G>A (n.8370+124111G>A)
 dbSNP COSMIC COSMIC
2g.108897157G>CCA348048248EDAR,RANBP2c.1097C>G (p.Ser366Cys)
c.1193C>G (p.Ser398Cys)
c.1244C>G (p.Ser415Cys)
c.1148C>G (p.Ser383Cys)
c.524C>G (p.Ser175Cys)
c.1337C>G (p.Ser446Cys)
c.1241C>G (p.Ser414Cys)
c.8370+124111G>C (n.8370+124111G>C)
2g.108897157G=CA1278354302EDAR,RANBP2c.1097C= (p.Ser366=)
c.1193C= (p.Ser398=)
c.1244C= (p.Ser415=)
c.1148C= (p.Ser383=)
c.524C= (p.Ser175=)
c.1337C= (p.Ser446=)
c.1241C= (p.Ser414=)
c.8370+124111G= (n.8370+124111G=)
2g.108897157G>TCA348048250EDAR,RANBP2c.1097C>A (p.Ser366Tyr)
c.1193C>A (p.Ser398Tyr)
c.1244C>A (p.Ser415Tyr)
c.1148C>A (p.Ser383Tyr)
c.524C>A (p.Ser175Tyr)
c.1337C>A (p.Ser446Tyr)
c.1241C>A (p.Ser414Tyr)
c.8370+124111G>T (n.8370+124111G>T)
2g.108897158A>CCA348048252EDAR,RANBP2c.1096T>G (p.Ser366Ala)
c.1192T>G (p.Ser398Ala)
c.1243T>G (p.Ser415Ala)
c.1147T>G (p.Ser383Ala)
c.523T>G (p.Ser175Ala)
c.1336T>G (p.Ser446Ala)
c.1240T>G (p.Ser414Ala)
c.8370+124112A>C (n.8370+124112A>C)
2g.108897158A>GCA348048253EDAR,RANBP2c.1096T>C (p.Ser366Pro)
c.1192T>C (p.Ser398Pro)
c.1243T>C (p.Ser415Pro)
c.1147T>C (p.Ser383Pro)
c.523T>C (p.Ser175Pro)
c.1336T>C (p.Ser446Pro)
c.1240T>C (p.Ser414Pro)
c.8370+124112A>G (n.8370+124112A>G)
 gnomAD v4
2g.108897158A>TCA348048255EDAR,RANBP2c.1096T>A (p.Ser366Thr)
c.1192T>A (p.Ser398Thr)
c.1243T>A (p.Ser415Thr)
c.1147T>A (p.Ser383Thr)
c.523T>A (p.Ser175Thr)
c.1336T>A (p.Ser446Thr)
c.1240T>A (p.Ser414Thr)
c.8370+124112A>T (n.8370+124112A>T)
2g.108897159G>ACA427910823EDAR,RANBP2c.1095C>T (p.Asn365=)
c.1191C>T (p.Asn397=)
c.1242C>T (p.Asn414=)
c.1146C>T (p.Asn382=)
c.522C>T (p.Asn174=)
c.1335C>T (p.Asn445=)
c.1239C>T (p.Asn413=)
c.8370+124113G>A (n.8370+124113G>A)
2g.108897159G>CCA348048257EDAR,RANBP2c.1095C>G (p.Asn365Lys)
c.1191C>G (p.Asn397Lys)
c.1242C>G (p.Asn414Lys)
c.1146C>G (p.Asn382Lys)
c.522C>G (p.Asn174Lys)
c.1335C>G (p.Asn445Lys)
c.1239C>G (p.Asn413Lys)
c.8370+124113G>C (n.8370+124113G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.108897159G=CA1278354303EDAR,RANBP2c.1095C= (p.Asn365=)
c.1191C= (p.Asn397=)
c.1242C= (p.Asn414=)
c.1146C= (p.Asn382=)
c.522C= (p.Asn174=)
c.1335C= (p.Asn445=)
c.1239C= (p.Asn413=)
c.8370+124113G= (n.8370+124113G=)
2g.108897159G>TCA348048259EDAR,RANBP2c.1095C>A (p.Asn365Lys)
c.1191C>A (p.Asn397Lys)
c.1242C>A (p.Asn414Lys)
c.1146C>A (p.Asn382Lys)
c.522C>A (p.Asn174Lys)
c.1335C>A (p.Asn445Lys)
c.1239C>A (p.Asn413Lys)
c.8370+124113G>T (n.8370+124113G>T)
2g.108897160T>ACA348048260EDAR,RANBP2c.1094A>T (p.Asn365Ile)
c.1190A>T (p.Asn397Ile)
c.1241A>T (p.Asn414Ile)
c.1145A>T (p.Asn382Ile)
c.521A>T (p.Asn174Ile)
c.1334A>T (p.Asn445Ile)
c.1238A>T (p.Asn413Ile)
c.8370+124114T>A (n.8370+124114T>A)
2g.108897160T>CCA348048262EDAR,RANBP2c.1094A>G (p.Asn365Ser)
c.1190A>G (p.Asn397Ser)
c.1241A>G (p.Asn414Ser)
c.1145A>G (p.Asn382Ser)
c.521A>G (p.Asn174Ser)
c.1334A>G (p.Asn445Ser)
c.1238A>G (p.Asn413Ser)
c.8370+124114T>C (n.8370+124114T>C)
 ClinVar dbSNP COSMIC COSMIC
2g.108897160T>GCA348048263EDAR,RANBP2c.1094A>C (p.Asn365Thr)
c.1190A>C (p.Asn397Thr)
c.1241A>C (p.Asn414Thr)
c.1145A>C (p.Asn382Thr)
c.521A>C (p.Asn174Thr)
c.1334A>C (p.Asn445Thr)
c.1238A>C (p.Asn413Thr)
c.8370+124114T>G (n.8370+124114T>G)
2g.108897160T=CA1278354304EDAR,RANBP2c.1094A= (p.Asn365=)
c.1190A= (p.Asn397=)
c.1241A= (p.Asn414=)
c.1145A= (p.Asn382=)
c.521A= (p.Asn174=)
c.1334A= (p.Asn445=)
c.1238A= (p.Asn413=)
c.8370+124114T= (n.8370+124114T=)
2g.108897161T>ACA348048265EDAR,RANBP2c.1093A>T (p.Asn365Tyr)
c.1189A>T (p.Asn397Tyr)
c.1240A>T (p.Asn414Tyr)
c.1144A>T (p.Asn382Tyr)
c.520A>T (p.Asn174Tyr)
c.1333A>T (p.Asn445Tyr)
c.1237A>T (p.Asn413Tyr)
c.8370+124115T>A (n.8370+124115T>A)
2g.108897161T>CCA348048267EDAR,RANBP2c.1093A>G (p.Asn365Asp)
c.1189A>G (p.Asn397Asp)
c.1240A>G (p.Asn414Asp)
c.1144A>G (p.Asn382Asp)
c.520A>G (p.Asn174Asp)
c.1333A>G (p.Asn445Asp)
c.1237A>G (p.Asn413Asp)
c.8370+124115T>C (n.8370+124115T>C)
2g.108897161T>GCA348048269EDAR,RANBP2c.1093A>C (p.Asn365His)
c.1189A>C (p.Asn397His)
c.1240A>C (p.Asn414His)
c.1144A>C (p.Asn382His)
c.520A>C (p.Asn174His)
c.1333A>C (p.Asn445His)
c.1237A>C (p.Asn413His)
c.8370+124115T>G (n.8370+124115T>G)
2g.108897162G>ACA427910826EDAR,RANBP2c.1092C>T (p.Tyr364=)
c.1188C>T (p.Tyr396=)
c.1239C>T (p.Tyr413=)
c.1143C>T (p.Tyr381=)
c.519C>T (p.Tyr173=)
c.1332C>T (p.Tyr444=)
c.1236C>T (p.Tyr412=)
c.8370+124116G>A (n.8370+124116G>A)
2g.108897162G>CCA348048273EDAR,RANBP2c.1092C>G (p.Tyr364Ter)
c.1188C>G (p.Tyr396Ter)
c.1239C>G (p.Tyr413Ter)
c.1143C>G (p.Tyr381Ter)
c.519C>G (p.Tyr173Ter)
c.1332C>G (p.Tyr444Ter)
c.1236C>G (p.Tyr412Ter)
c.8370+124116G>C (n.8370+124116G>C)
2g.108897162G>TCA348048275EDAR,RANBP2c.1092C>A (p.Tyr364Ter)
c.1188C>A (p.Tyr396Ter)
c.1239C>A (p.Tyr413Ter)
c.1143C>A (p.Tyr381Ter)
c.519C>A (p.Tyr173Ter)
c.1332C>A (p.Tyr444Ter)
c.1236C>A (p.Tyr412Ter)
c.8370+124116G>T (n.8370+124116G>T)
2g.108897163T>ACA348048278EDAR,RANBP2c.1091A>T (p.Tyr364Phe)
c.1187A>T (p.Tyr396Phe)
c.1238A>T (p.Tyr413Phe)
c.1142A>T (p.Tyr381Phe)
c.518A>T (p.Tyr173Phe)
c.1331A>T (p.Tyr444Phe)
c.1235A>T (p.Tyr412Phe)
c.8370+124117T>A (n.8370+124117T>A)
 dbSNP gnomAD v2
2g.108897163T>CCA348048279EDAR,RANBP2c.1091A>G (p.Tyr364Cys)
c.1187A>G (p.Tyr396Cys)
c.1238A>G (p.Tyr413Cys)
c.1142A>G (p.Tyr381Cys)
c.518A>G (p.Tyr173Cys)
c.1331A>G (p.Tyr444Cys)
c.1235A>G (p.Tyr412Cys)
c.8370+124117T>C (n.8370+124117T>C)
2g.108897163T>GCA348048281EDAR,RANBP2c.1091A>C (p.Tyr364Ser)
c.1187A>C (p.Tyr396Ser)
c.1238A>C (p.Tyr413Ser)
c.1142A>C (p.Tyr381Ser)
c.518A>C (p.Tyr173Ser)
c.1331A>C (p.Tyr444Ser)
c.1235A>C (p.Tyr412Ser)
c.8370+124117T>G (n.8370+124117T>G)
2g.108897163T=CA1278354305EDAR,RANBP2c.1091A= (p.Tyr364=)
c.1187A= (p.Tyr396=)
c.1238A= (p.Tyr413=)
c.1142A= (p.Tyr381=)
c.518A= (p.Tyr173=)
c.1331A= (p.Tyr444=)
c.1235A= (p.Tyr412=)
c.8370+124117T= (n.8370+124117T=)
2g.108897164A>CCA348048285EDAR,RANBP2c.1090T>G (p.Tyr364Asp)
c.1186T>G (p.Tyr396Asp)
c.1237T>G (p.Tyr413Asp)
c.1141T>G (p.Tyr381Asp)
c.517T>G (p.Tyr173Asp)
c.1330T>G (p.Tyr444Asp)
c.1234T>G (p.Tyr412Asp)
c.8370+124118A>C (n.8370+124118A>C)
2g.108897164A>GCA348048286EDAR,RANBP2c.1090T>C (p.Tyr364His)
c.1186T>C (p.Tyr396His)
c.1237T>C (p.Tyr413His)
c.1141T>C (p.Tyr381His)
c.517T>C (p.Tyr173His)
c.1330T>C (p.Tyr444His)
c.1234T>C (p.Tyr412His)
c.8370+124118A>G (n.8370+124118A>G)
 COSMIC COSMIC
2g.108897164A>TCA348048283EDAR,RANBP2c.1090T>A (p.Tyr364Asn)
c.1186T>A (p.Tyr396Asn)
c.1237T>A (p.Tyr413Asn)
c.1141T>A (p.Tyr381Asn)
c.517T>A (p.Tyr173Asn)
c.1330T>A (p.Tyr444Asn)
c.1234T>A (p.Tyr412Asn)
c.8370+124118A>T (n.8370+124118A>T)
2g.108897164_108897165delinsACCA1278354306EDAR,RANBP2c.1089_1090delinsGT (p.Thr363=)
c.1185_1186delinsGT (p.Thr395=)
c.1236_1237delinsGT (p.Thr412=)
c.1140_1141delinsGT (p.Thr380=)
c.516_517delinsGT (p.Thr172=)
c.1329_1330delinsGT (p.Thr443=)
c.1233_1234delinsGT (p.Thr411=)
c.8370+124118_8370+124119delinsAC (n.8370+124118_8370+124119delinsAC)
2g.108897165delCA891842936EDAR,RANBP2c.1089del (p.Tyr364ThrfsTer8)
c.1185del (p.Tyr396ThrfsTer8)
c.1236del (p.Tyr413ThrfsTer8)
c.1140del (p.Tyr381ThrfsTer8)
c.516del (p.Tyr173ThrfsTer8)
c.1329del (p.Tyr444ThrfsTer8)
c.1233del (p.Tyr412ThrfsTer8)
c.8370+124119del (n.8370+124119del)
 ClinVar dbSNP
2g.108897165C>ACA427910828EDAR,RANBP2c.1089G>T (p.Thr363=)
c.1185G>T (p.Thr395=)
c.1236G>T (p.Thr412=)
c.1140G>T (p.Thr380=)
c.516G>T (p.Thr172=)
c.1329G>T (p.Thr443=)
c.1233G>T (p.Thr411=)
c.8370+124119C>A (n.8370+124119C>A)
2g.108897165C=CA1278354307EDAR,RANBP2c.1089G= (p.Thr363=)
c.1185G= (p.Thr395=)
c.1236G= (p.Thr412=)
c.1140G= (p.Thr380=)
c.516G= (p.Thr172=)
c.1329G= (p.Thr443=)
c.1233G= (p.Thr411=)
c.8370+124119C= (n.8370+124119C=)
2g.108897165C>GCA427910829EDAR,RANBP2c.1089G>C (p.Thr363=)
c.1185G>C (p.Thr395=)
c.1236G>C (p.Thr412=)
c.1140G>C (p.Thr380=)
c.516G>C (p.Thr172=)
c.1329G>C (p.Thr443=)
c.1233G>C (p.Thr411=)
c.8370+124119C>G (n.8370+124119C>G)
2g.108897165C>TCA1824819EDAR,RANBP2c.1089G>A (p.Thr363=)
c.1185G>A (p.Thr395=)
c.1236G>A (p.Thr412=)
c.1140G>A (p.Thr380=)
c.516G>A (p.Thr172=)
c.1329G>A (p.Thr443=)
c.1233G>A (p.Thr411=)
c.8370+124119C>T (n.8370+124119C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897165_108897166delinsCGCA1278354308EDAR,RANBP2c.1088_1089delinsCG (p.Thr363=)
c.1184_1185delinsCG (p.Thr395=)
c.1235_1236delinsCG (p.Thr412=)
c.1139_1140delinsCG (p.Thr380=)
c.515_516delinsCG (p.Thr172=)
c.1328_1329delinsCG (p.Thr443=)
c.1232_1233delinsCG (p.Thr411=)
c.8370+124119_8370+124120delinsCG (n.8370+124119_8370+124120delinsCG)
2g.108897166delCA915944092EDAR,RANBP2c.1088del (p.Thr363SerfsTer9)
c.1184del (p.Thr395SerfsTer9)
c.1235del (p.Thr412SerfsTer9)
c.1139del (p.Thr380SerfsTer9)
c.515del (p.Thr172SerfsTer9)
c.1328del (p.Thr443SerfsTer9)
c.1232del (p.Thr411SerfsTer9)
c.8370+124120del (n.8370+124120del)
 ClinVar dbSNP
2g.108897166G>ACA1824820EDAR,RANBP2c.1088C>T (p.Thr363Met)
c.1184C>T (p.Thr395Met)
c.1235C>T (p.Thr412Met)
c.1139C>T (p.Thr380Met)
c.515C>T (p.Thr172Met)
c.1328C>T (p.Thr443Met)
c.1232C>T (p.Thr411Met)
c.8370+124120G>A (n.8370+124120G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897166G>CCA348048290EDAR,RANBP2c.1088C>G (p.Thr363Arg)
c.1184C>G (p.Thr395Arg)
c.1235C>G (p.Thr412Arg)
c.1139C>G (p.Thr380Arg)
c.515C>G (p.Thr172Arg)
c.1328C>G (p.Thr443Arg)
c.1232C>G (p.Thr411Arg)
c.8370+124120G>C (n.8370+124120G>C)
2g.108897166G=CA1278354309EDAR,RANBP2c.1088C= (p.Thr363=)
c.1184C= (p.Thr395=)
c.1235C= (p.Thr412=)
c.1139C= (p.Thr380=)
c.515C= (p.Thr172=)
c.1328C= (p.Thr443=)
c.1232C= (p.Thr411=)
c.8370+124120G= (n.8370+124120G=)
2g.108897166G>TCA1824821EDAR,RANBP2c.1088C>A (p.Thr363Lys)
c.1184C>A (p.Thr395Lys)
c.1235C>A (p.Thr412Lys)
c.1139C>A (p.Thr380Lys)
c.515C>A (p.Thr172Lys)
c.1328C>A (p.Thr443Lys)
c.1232C>A (p.Thr411Lys)
c.8370+124120G>T (n.8370+124120G>T)
 dbSNP ExAC gnomAD v2
2g.108897167T>ACA348048293EDAR,RANBP2c.1087A>T (p.Thr363Ser)
c.1183A>T (p.Thr395Ser)
c.1234A>T (p.Thr412Ser)
c.1138A>T (p.Thr380Ser)
c.514A>T (p.Thr172Ser)
c.1327A>T (p.Thr443Ser)
c.1231A>T (p.Thr411Ser)
c.8370+124121T>A (n.8370+124121T>A)
2g.108897167T>CCA348048294EDAR,RANBP2c.1087A>G (p.Thr363Ala)
c.1183A>G (p.Thr395Ala)
c.1234A>G (p.Thr412Ala)
c.1138A>G (p.Thr380Ala)
c.514A>G (p.Thr172Ala)
c.1327A>G (p.Thr443Ala)
c.1231A>G (p.Thr411Ala)
c.8370+124121T>C (n.8370+124121T>C)
2g.108897167T>GCA348048296EDAR,RANBP2c.1087A>C (p.Thr363Pro)
c.1183A>C (p.Thr395Pro)
c.1234A>C (p.Thr412Pro)
c.1138A>C (p.Thr380Pro)
c.514A>C (p.Thr172Pro)
c.1327A>C (p.Thr443Pro)
c.1231A>C (p.Thr411Pro)
c.8370+124121T>G (n.8370+124121T>G)
2g.108897168G>ACA427910835EDAR,RANBP2c.1086C>T (p.Ser362=)
c.1182C>T (p.Ser394=)
c.1233C>T (p.Ser411=)
c.1137C>T (p.Ser379=)
c.513C>T (p.Ser171=)
c.1326C>T (p.Ser442=)
c.1230C>T (p.Ser410=)
c.8370+124122G>A (n.8370+124122G>A)
 dbSNP
2g.108897168G>CCA1824822EDAR,RANBP2c.1086C>G (p.Ser362=)
c.1182C>G (p.Ser394=)
c.1233C>G (p.Ser411=)
c.1137C>G (p.Ser379=)
c.513C>G (p.Ser171=)
c.1326C>G (p.Ser442=)
c.1230C>G (p.Ser410=)
c.8370+124122G>C (n.8370+124122G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897168G=CA1278354310EDAR,RANBP2c.1086C= (p.Ser362=)
c.1182C= (p.Ser394=)
c.1233C= (p.Ser411=)
c.1137C= (p.Ser379=)
c.513C= (p.Ser171=)
c.1326C= (p.Ser442=)
c.1230C= (p.Ser410=)
c.8370+124122G= (n.8370+124122G=)
2g.108897168G>TCA427910837EDAR,RANBP2c.1086C>A (p.Ser362=)
c.1182C>A (p.Ser394=)
c.1233C>A (p.Ser411=)
c.1137C>A (p.Ser379=)
c.513C>A (p.Ser171=)
c.1326C>A (p.Ser442=)
c.1230C>A (p.Ser410=)
c.8370+124122G>T (n.8370+124122G>T)
2g.108897169G>ACA348048299EDAR,RANBP2c.1085C>T (p.Ser362Phe)
c.1181C>T (p.Ser394Phe)
c.1232C>T (p.Ser411Phe)
c.1136C>T (p.Ser379Phe)
c.512C>T (p.Ser171Phe)
c.1325C>T (p.Ser442Phe)
c.1229C>T (p.Ser410Phe)
c.8370+124123G>A (n.8370+124123G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108897169G>CCA348048301EDAR,RANBP2c.1085C>G (p.Ser362Cys)
c.1181C>G (p.Ser394Cys)
c.1232C>G (p.Ser411Cys)
c.1136C>G (p.Ser379Cys)
c.512C>G (p.Ser171Cys)
c.1325C>G (p.Ser442Cys)
c.1229C>G (p.Ser410Cys)
c.8370+124123G>C (n.8370+124123G>C)
2g.108897169G=CA1278354311EDAR,RANBP2c.1085C= (p.Ser362=)
c.1181C= (p.Ser394=)
c.1232C= (p.Ser411=)
c.1136C= (p.Ser379=)
c.512C= (p.Ser171=)
c.1325C= (p.Ser442=)
c.1229C= (p.Ser410=)
c.8370+124123G= (n.8370+124123G=)
2g.108897169G>TCA348048303EDAR,RANBP2c.1085C>A (p.Ser362Tyr)
c.1181C>A (p.Ser394Tyr)
c.1232C>A (p.Ser411Tyr)
c.1136C>A (p.Ser379Tyr)
c.512C>A (p.Ser171Tyr)
c.1325C>A (p.Ser442Tyr)
c.1229C>A (p.Ser410Tyr)
c.8370+124123G>T (n.8370+124123G>T)
2g.108897170A>CCA348048306EDAR,RANBP2c.1084T>G (p.Ser362Ala)
c.1180T>G (p.Ser394Ala)
c.1231T>G (p.Ser411Ala)
c.1135T>G (p.Ser379Ala)
c.511T>G (p.Ser171Ala)
c.1324T>G (p.Ser442Ala)
c.1228T>G (p.Ser410Ala)
c.8370+124124A>C (n.8370+124124A>C)
2g.108897170A>GCA348048307EDAR,RANBP2c.1084T>C (p.Ser362Pro)
c.1180T>C (p.Ser394Pro)
c.1231T>C (p.Ser411Pro)
c.1135T>C (p.Ser379Pro)
c.511T>C (p.Ser171Pro)
c.1324T>C (p.Ser442Pro)
c.1228T>C (p.Ser410Pro)
c.8370+124124A>G (n.8370+124124A>G)
2g.108897170A>TCA348048305EDAR,RANBP2c.1084T>A (p.Ser362Thr)
c.1180T>A (p.Ser394Thr)
c.1231T>A (p.Ser411Thr)
c.1135T>A (p.Ser379Thr)
c.511T>A (p.Ser171Thr)
c.1324T>A (p.Ser442Thr)
c.1228T>A (p.Ser410Thr)
c.8370+124124A>T (n.8370+124124A>T)
2g.108897171G>ACA427910838EDAR,RANBP2c.1083C>T (p.Ser361=)
c.1179C>T (p.Ser393=)
c.1230C>T (p.Ser410=)
c.1134C>T (p.Ser378=)
c.510C>T (p.Ser170=)
c.1323C>T (p.Ser441=)
c.1227C>T (p.Ser409=)
c.8370+124125G>A (n.8370+124125G>A)
 gnomAD v4
2g.108897171G>CCA348048308EDAR,RANBP2c.1083C>G (p.Ser361Arg)
c.1179C>G (p.Ser393Arg)
c.1230C>G (p.Ser410Arg)
c.1134C>G (p.Ser378Arg)
c.510C>G (p.Ser170Arg)
c.1323C>G (p.Ser441Arg)
c.1227C>G (p.Ser409Arg)
c.8370+124125G>C (n.8370+124125G>C)
2g.108897171G>TCA348048309EDAR,RANBP2c.1083C>A (p.Ser361Arg)
c.1179C>A (p.Ser393Arg)
c.1230C>A (p.Ser410Arg)
c.1134C>A (p.Ser378Arg)
c.510C>A (p.Ser170Arg)
c.1323C>A (p.Ser441Arg)
c.1227C>A (p.Ser409Arg)
c.8370+124125G>T (n.8370+124125G>T)
2g.108897172delCA2586969742EDAR,RANBP2c.1082del (p.Ser361ThrfsTer11)
c.1178del (p.Ser393ThrfsTer11)
c.1229del (p.Ser410ThrfsTer11)
c.1133del (p.Ser378ThrfsTer11)
c.509del (p.Ser170ThrfsTer11)
c.1322del (p.Ser441ThrfsTer11)
c.1226del (p.Ser409ThrfsTer11)
c.8370+124126del (n.8370+124126del)
2g.108897172C>ACA348048311EDAR,RANBP2c.1082G>T (p.Ser361Ile)
c.1178G>T (p.Ser393Ile)
c.1229G>T (p.Ser410Ile)
c.1133G>T (p.Ser378Ile)
c.509G>T (p.Ser170Ile)
c.1322G>T (p.Ser441Ile)
c.1226G>T (p.Ser409Ile)
c.8370+124126C>A (n.8370+124126C>A)
2g.108897172C>GCA348048314EDAR,RANBP2c.1082G>C (p.Ser361Thr)
c.1178G>C (p.Ser393Thr)
c.1229G>C (p.Ser410Thr)
c.1133G>C (p.Ser378Thr)
c.509G>C (p.Ser170Thr)
c.1322G>C (p.Ser441Thr)
c.1226G>C (p.Ser409Thr)
c.8370+124126C>G (n.8370+124126C>G)
2g.108897172C>TCA348048315EDAR,RANBP2c.1082G>A (p.Ser361Asn)
c.1178G>A (p.Ser393Asn)
c.1229G>A (p.Ser410Asn)
c.1133G>A (p.Ser378Asn)
c.509G>A (p.Ser170Asn)
c.1322G>A (p.Ser441Asn)
c.1226G>A (p.Ser409Asn)
c.8370+124126C>T (n.8370+124126C>T)
2g.108897173T>ACA348048323EDAR,RANBP2c.1081A>T (p.Ser361Cys)
c.1177A>T (p.Ser393Cys)
c.1228A>T (p.Ser410Cys)
c.1132A>T (p.Ser378Cys)
c.508A>T (p.Ser170Cys)
c.1321A>T (p.Ser441Cys)
c.1225A>T (p.Ser409Cys)
c.8370+124127T>A (n.8370+124127T>A)
2g.108897173T>CCA348048318EDAR,RANBP2c.1081A>G (p.Ser361Gly)
c.1177A>G (p.Ser393Gly)
c.1228A>G (p.Ser410Gly)
c.1132A>G (p.Ser378Gly)
c.508A>G (p.Ser170Gly)
c.1321A>G (p.Ser441Gly)
c.1225A>G (p.Ser409Gly)
c.8370+124127T>C (n.8370+124127T>C)
2g.108897173T>GCA348048321EDAR,RANBP2c.1081A>C (p.Ser361Arg)
c.1177A>C (p.Ser393Arg)
c.1228A>C (p.Ser410Arg)
c.1132A>C (p.Ser378Arg)
c.508A>C (p.Ser170Arg)
c.1321A>C (p.Ser441Arg)
c.1225A>C (p.Ser409Arg)
c.8370+124127T>G (n.8370+124127T>G)
2g.108897174G>ACA427910842EDAR,RANBP2c.1080C>T (p.Leu360=)
c.1176C>T (p.Leu392=)
c.1227C>T (p.Leu409=)
c.1131C>T (p.Leu377=)
c.507C>T (p.Leu169=)
c.1320C>T (p.Leu440=)
c.1224C>T (p.Leu408=)
c.8370+124128G>A (n.8370+124128G>A)
 dbSNP gnomAD v4
2g.108897174G>CCA427910843EDAR,RANBP2c.1080C>G (p.Leu360=)
c.1176C>G (p.Leu392=)
c.1227C>G (p.Leu409=)
c.1131C>G (p.Leu377=)
c.507C>G (p.Leu169=)
c.1320C>G (p.Leu440=)
c.1224C>G (p.Leu408=)
c.8370+124128G>C (n.8370+124128G>C)
2g.108897174G=CA1278354312EDAR,RANBP2c.1080C= (p.Leu360=)
c.1176C= (p.Leu392=)
c.1227C= (p.Leu409=)
c.1131C= (p.Leu377=)
c.507C= (p.Leu169=)
c.1320C= (p.Leu440=)
c.1224C= (p.Leu408=)
c.8370+124128G= (n.8370+124128G=)
2g.108897174G>TCA427910844EDAR,RANBP2c.1080C>A (p.Leu360=)
c.1176C>A (p.Leu392=)
c.1227C>A (p.Leu409=)
c.1131C>A (p.Leu377=)
c.507C>A (p.Leu169=)
c.1320C>A (p.Leu440=)
c.1224C>A (p.Leu408=)
c.8370+124128G>T (n.8370+124128G>T)
2g.108897175A>CCA348048325EDAR,RANBP2c.1079T>G (p.Leu360Arg)
c.1175T>G (p.Leu392Arg)
c.1226T>G (p.Leu409Arg)
c.1130T>G (p.Leu377Arg)
c.506T>G (p.Leu169Arg)
c.1319T>G (p.Leu440Arg)
c.1223T>G (p.Leu408Arg)
c.8370+124129A>C (n.8370+124129A>C)
2g.108897175A>GCA348048327EDAR,RANBP2c.1079T>C (p.Leu360Pro)
c.1175T>C (p.Leu392Pro)
c.1226T>C (p.Leu409Pro)
c.1130T>C (p.Leu377Pro)
c.506T>C (p.Leu169Pro)
c.1319T>C (p.Leu440Pro)
c.1223T>C (p.Leu408Pro)
c.8370+124129A>G (n.8370+124129A>G)
2g.108897175A>TCA348048330EDAR,RANBP2c.1079T>A (p.Leu360His)
c.1175T>A (p.Leu392His)
c.1226T>A (p.Leu409His)
c.1130T>A (p.Leu377His)
c.506T>A (p.Leu169His)
c.1319T>A (p.Leu440His)
c.1223T>A (p.Leu408His)
c.8370+124129A>T (n.8370+124129A>T)
2g.108897176G>ACA348048332EDAR,RANBP2c.1078C>T (p.Leu360Phe)
c.1174C>T (p.Leu392Phe)
c.1225C>T (p.Leu409Phe)
c.1129C>T (p.Leu377Phe)
c.505C>T (p.Leu169Phe)
c.1318C>T (p.Leu440Phe)
c.1222C>T (p.Leu408Phe)
c.8370+124130G>A (n.8370+124130G>A)
2g.108897176G>CCA348048335EDAR,RANBP2c.1078C>G (p.Leu360Val)
c.1174C>G (p.Leu392Val)
c.1225C>G (p.Leu409Val)
c.1129C>G (p.Leu377Val)
c.505C>G (p.Leu169Val)
c.1318C>G (p.Leu440Val)
c.1222C>G (p.Leu408Val)
c.8370+124130G>C (n.8370+124130G>C)
 gnomAD v4
2g.108897176G>TCA348048338EDAR,RANBP2c.1078C>A (p.Leu360Ile)
c.1174C>A (p.Leu392Ile)
c.1225C>A (p.Leu409Ile)
c.1129C>A (p.Leu377Ile)
c.505C>A (p.Leu169Ile)
c.1318C>A (p.Leu440Ile)
c.1222C>A (p.Leu408Ile)
c.8370+124130G>T (n.8370+124130G>T)
 COSMIC COSMIC
2g.108897177C>ACA348048344EDAR,RANBP2c.1077G>T (p.Met359Ile)
c.1173G>T (p.Met391Ile)
c.1224G>T (p.Met408Ile)
c.1128G>T (p.Met376Ile)
c.504G>T (p.Met168Ile)
c.1317G>T (p.Met439Ile)
c.1221G>T (p.Met407Ile)
c.8370+124131C>A (n.8370+124131C>A)
 gnomAD v4
2g.108897177C>GCA348048346EDAR,RANBP2c.1077G>C (p.Met359Ile)
c.1173G>C (p.Met391Ile)
c.1224G>C (p.Met408Ile)
c.1128G>C (p.Met376Ile)
c.504G>C (p.Met168Ile)
c.1317G>C (p.Met439Ile)
c.1221G>C (p.Met407Ile)
c.8370+124131C>G (n.8370+124131C>G)
2g.108897177C>TCA348048342EDAR,RANBP2c.1077G>A (p.Met359Ile)
c.1173G>A (p.Met391Ile)
c.1224G>A (p.Met408Ile)
c.1128G>A (p.Met376Ile)
c.504G>A (p.Met168Ile)
c.1317G>A (p.Met439Ile)
c.1221G>A (p.Met407Ile)
c.8370+124131C>T (n.8370+124131C>T)
2g.108897178A>CCA348048356EDAR,RANBP2c.1076T>G (p.Met359Arg)
c.1172T>G (p.Met391Arg)
c.1223T>G (p.Met408Arg)
c.1127T>G (p.Met376Arg)
c.503T>G (p.Met168Arg)
c.1316T>G (p.Met439Arg)
c.1220T>G (p.Met407Arg)
c.8370+124132A>C (n.8370+124132A>C)
2g.108897178A>GCA348048352EDAR,RANBP2c.1076T>C (p.Met359Thr)
c.1172T>C (p.Met391Thr)
c.1223T>C (p.Met408Thr)
c.1127T>C (p.Met376Thr)
c.503T>C (p.Met168Thr)
c.1316T>C (p.Met439Thr)
c.1220T>C (p.Met407Thr)
c.8370+124132A>G (n.8370+124132A>G)
2g.108897178A>TCA348048353EDAR,RANBP2c.1076T>A (p.Met359Lys)
c.1172T>A (p.Met391Lys)
c.1223T>A (p.Met408Lys)
c.1127T>A (p.Met376Lys)
c.503T>A (p.Met168Lys)
c.1316T>A (p.Met439Lys)
c.1220T>A (p.Met407Lys)
c.8370+124132A>T (n.8370+124132A>T)
2g.108897179T>ACA348048359EDAR,RANBP2c.1075A>T (p.Met359Leu)
c.1171A>T (p.Met391Leu)
c.1222A>T (p.Met408Leu)
c.1126A>T (p.Met376Leu)
c.502A>T (p.Met168Leu)
c.1315A>T (p.Met439Leu)
c.1219A>T (p.Met407Leu)
c.8370+124133T>A (n.8370+124133T>A)
2g.108897179T>CCA348048361EDAR,RANBP2c.1075A>G (p.Met359Val)
c.1171A>G (p.Met391Val)
c.1222A>G (p.Met408Val)
c.1126A>G (p.Met376Val)
c.502A>G (p.Met168Val)
c.1315A>G (p.Met439Val)
c.1219A>G (p.Met407Val)
c.8370+124133T>C (n.8370+124133T>C)
2g.108897179T>GCA348048362EDAR,RANBP2c.1075A>C (p.Met359Leu)
c.1171A>C (p.Met391Leu)
c.1222A>C (p.Met408Leu)
c.1126A>C (p.Met376Leu)
c.502A>C (p.Met168Leu)
c.1315A>C (p.Met439Leu)
c.1219A>C (p.Met407Leu)
c.8370+124133T>G (n.8370+124133T>G)
2g.108897180T>ACA427910850EDAR,RANBP2c.1074A>T (p.Arg358=)
c.1170A>T (p.Arg390=)
c.1221A>T (p.Arg407=)
c.1125A>T (p.Arg375=)
c.501A>T (p.Arg167=)
c.1314A>T (p.Arg438=)
c.1218A>T (p.Arg406=)
c.8370+124134T>A (n.8370+124134T>A)
 dbSNP
2g.108897180T>CCA427910851EDAR,RANBP2c.1074A>G (p.Arg358=)
c.1170A>G (p.Arg390=)
c.1221A>G (p.Arg407=)
c.1125A>G (p.Arg375=)
c.501A>G (p.Arg167=)
c.1314A>G (p.Arg438=)
c.1218A>G (p.Arg406=)
c.8370+124134T>C (n.8370+124134T>C)
2g.108897180T>GCA427910853EDAR,RANBP2c.1074A>C (p.Arg358=)
c.1170A>C (p.Arg390=)
c.1221A>C (p.Arg407=)
c.1125A>C (p.Arg375=)
c.501A>C (p.Arg167=)
c.1314A>C (p.Arg438=)
c.1218A>C (p.Arg406=)
c.8370+124134T>G (n.8370+124134T>G)
2g.108897180T=CA1278354313EDAR,RANBP2c.1074A= (p.Arg358=)
c.1170A= (p.Arg390=)
c.1221A= (p.Arg407=)
c.1125A= (p.Arg375=)
c.501A= (p.Arg167=)
c.1314A= (p.Arg438=)
c.1218A= (p.Arg406=)
c.8370+124134T= (n.8370+124134T=)
2g.108897181C>ACA348048365EDAR,RANBP2c.1073G>T (p.Arg358Leu)
c.1169G>T (p.Arg390Leu)
c.1220G>T (p.Arg407Leu)
c.1124G>T (p.Arg375Leu)
c.500G>T (p.Arg167Leu)
c.1313G>T (p.Arg438Leu)
c.1217G>T (p.Arg406Leu)
c.8370+124135C>A (n.8370+124135C>A)
2g.108897181C=CA1278354314EDAR,RANBP2c.1073G= (p.Arg358=)
c.1169G= (p.Arg390=)
c.1220G= (p.Arg407=)
c.1124G= (p.Arg375=)
c.500G= (p.Arg167=)
c.1313G= (p.Arg438=)
c.1217G= (p.Arg406=)
c.8370+124135C= (n.8370+124135C=)
2g.108897181C>GCA348048366EDAR,RANBP2c.1073G>C (p.Arg358Pro)
c.1169G>C (p.Arg390Pro)
c.1220G>C (p.Arg407Pro)
c.1124G>C (p.Arg375Pro)
c.500G>C (p.Arg167Pro)
c.1313G>C (p.Arg438Pro)
c.1217G>C (p.Arg406Pro)
c.8370+124135C>G (n.8370+124135C>G)
2g.108897181C>TCA10588307EDAR,RANBP2c.1073G>A (p.Arg358Gln)
c.1169G>A (p.Arg390Gln)
c.1220G>A (p.Arg407Gln)
c.1124G>A (p.Arg375Gln)
c.500G>A (p.Arg167Gln)
c.1313G>A (p.Arg438Gln)
c.1217G>A (p.Arg406Gln)
c.8370+124135C>T (n.8370+124135C>T)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.108897182G>ACA117808EDAR,RANBP2c.1072C>T (p.Arg358Ter)
c.1168C>T (p.Arg390Ter)
c.1219C>T (p.Arg407Ter)
c.1123C>T (p.Arg375Ter)
c.499C>T (p.Arg167Ter)
c.1312C>T (p.Arg438Ter)
c.1216C>T (p.Arg406Ter)
c.8370+124136G>A (n.8370+124136G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.108897182G>CCA348048372EDAR,RANBP2c.1072C>G (p.Arg358Gly)
c.1168C>G (p.Arg390Gly)
c.1219C>G (p.Arg407Gly)
c.1123C>G (p.Arg375Gly)
c.499C>G (p.Arg167Gly)
c.1312C>G (p.Arg438Gly)
c.1216C>G (p.Arg406Gly)
c.8370+124136G>C (n.8370+124136G>C)
2g.108897182G=CA1278354315EDAR,RANBP2c.1072C= (p.Arg358=)
c.1168C= (p.Arg390=)
c.1219C= (p.Arg407=)
c.1123C= (p.Arg375=)
c.499C= (p.Arg167=)
c.1312C= (p.Arg438=)
c.1216C= (p.Arg406=)
c.8370+124136G= (n.8370+124136G=)
2g.108897182G>TCA427910856EDAR,RANBP2c.1072C>A (p.Arg358=)
c.1168C>A (p.Arg390=)
c.1219C>A (p.Arg407=)
c.1123C>A (p.Arg375=)
c.499C>A (p.Arg167=)
c.1312C>A (p.Arg438=)
c.1216C>A (p.Arg406=)
c.8370+124136G>T (n.8370+124136G>T)
2g.108897183G>ACA427910857EDAR,RANBP2c.1071C>T (p.Ser357=)
c.1167C>T (p.Ser389=)
c.1218C>T (p.Ser406=)
c.1122C>T (p.Ser374=)
c.498C>T (p.Ser166=)
c.1311C>T (p.Ser437=)
c.1215C>T (p.Ser405=)
c.8370+124137G>A (n.8370+124137G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.108897183G>CCA348048374EDAR,RANBP2c.1071C>G (p.Ser357Arg)
c.1167C>G (p.Ser389Arg)
c.1218C>G (p.Ser406Arg)
c.1122C>G (p.Ser374Arg)
c.498C>G (p.Ser166Arg)
c.1311C>G (p.Ser437Arg)
c.1215C>G (p.Ser405Arg)
c.8370+124137G>C (n.8370+124137G>C)
2g.108897183G=CA1278354316EDAR,RANBP2c.1071C= (p.Ser357=)
c.1167C= (p.Ser389=)
c.1218C= (p.Ser406=)
c.1122C= (p.Ser374=)
c.498C= (p.Ser166=)
c.1311C= (p.Ser437=)
c.1215C= (p.Ser405=)
c.8370+124137G= (n.8370+124137G=)
2g.108897183G>TCA348048376EDAR,RANBP2c.1071C>A (p.Ser357Arg)
c.1167C>A (p.Ser389Arg)
c.1218C>A (p.Ser406Arg)
c.1122C>A (p.Ser374Arg)
c.498C>A (p.Ser166Arg)
c.1311C>A (p.Ser437Arg)
c.1215C>A (p.Ser405Arg)
c.8370+124137G>T (n.8370+124137G>T)
 gnomAD v4
2g.108897184C>ACA348048380EDAR,RANBP2c.1070G>T (p.Ser357Ile)
c.1166G>T (p.Ser389Ile)
c.1217G>T (p.Ser406Ile)
c.1121G>T (p.Ser374Ile)
c.497G>T (p.Ser166Ile)
c.1310G>T (p.Ser437Ile)
c.1214G>T (p.Ser405Ile)
c.8370+124138C>A (n.8370+124138C>A)
2g.108897184C>GCA348048383EDAR,RANBP2c.1070G>C (p.Ser357Thr)
c.1166G>C (p.Ser389Thr)
c.1217G>C (p.Ser406Thr)
c.1121G>C (p.Ser374Thr)
c.497G>C (p.Ser166Thr)
c.1310G>C (p.Ser437Thr)
c.1214G>C (p.Ser405Thr)
c.8370+124138C>G (n.8370+124138C>G)
2g.108897184C>TCA348048385EDAR,RANBP2c.1070G>A (p.Ser357Asn)
c.1166G>A (p.Ser389Asn)
c.1217G>A (p.Ser406Asn)
c.1121G>A (p.Ser374Asn)
c.497G>A (p.Ser166Asn)
c.1310G>A (p.Ser437Asn)
c.1214G>A (p.Ser405Asn)
c.8370+124138C>T (n.8370+124138C>T)
2g.108897185T>ACA348048389EDAR,RANBP2c.1069A>T (p.Ser357Cys)
c.1165A>T (p.Ser389Cys)
c.1216A>T (p.Ser406Cys)
c.1120A>T (p.Ser374Cys)
c.496A>T (p.Ser166Cys)
c.1309A>T (p.Ser437Cys)
c.1213A>T (p.Ser405Cys)
c.8370+124139T>A (n.8370+124139T>A)
2g.108897185T>CCA348048393EDAR,RANBP2c.1069A>G (p.Ser357Gly)
c.1165A>G (p.Ser389Gly)
c.1216A>G (p.Ser406Gly)
c.1120A>G (p.Ser374Gly)
c.496A>G (p.Ser166Gly)
c.1309A>G (p.Ser437Gly)
c.1213A>G (p.Ser405Gly)
c.8370+124139T>C (n.8370+124139T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.108897185T>GCA348048391EDAR,RANBP2c.1069A>C (p.Ser357Arg)
c.1165A>C (p.Ser389Arg)
c.1216A>C (p.Ser406Arg)
c.1120A>C (p.Ser374Arg)
c.496A>C (p.Ser166Arg)
c.1309A>C (p.Ser437Arg)
c.1213A>C (p.Ser405Arg)
c.8370+124139T>G (n.8370+124139T>G)
2g.108897185T=CA1278354317EDAR,RANBP2c.1069A= (p.Ser357=)
c.1165A= (p.Ser389=)
c.1216A= (p.Ser406=)
c.1120A= (p.Ser374=)
c.496A= (p.Ser166=)
c.1309A= (p.Ser437=)
c.1213A= (p.Ser405=)
c.8370+124139T= (n.8370+124139T=)
2g.108897186A=CA1278354318EDAR,RANBP2c.1068T= (p.Thr356=)
c.1164T= (p.Thr388=)
c.1215T= (p.Thr405=)
c.1119T= (p.Thr373=)
c.495T= (p.Thr165=)
c.1308T= (p.Thr436=)
c.1212T= (p.Thr404=)
c.8370+124140A= (n.8370+124140A=)
2g.108897186A>CCA427910861EDAR,RANBP2c.1068T>G (p.Thr356=)
c.1164T>G (p.Thr388=)
c.1215T>G (p.Thr405=)
c.1119T>G (p.Thr373=)
c.495T>G (p.Thr165=)
c.1308T>G (p.Thr436=)
c.1212T>G (p.Thr404=)
c.8370+124140A>C (n.8370+124140A>C)
2g.108897186A>GCA53464911EDAR,RANBP2c.1068T>C (p.Thr356=)
c.1164T>C (p.Thr388=)
c.1215T>C (p.Thr405=)
c.1119T>C (p.Thr373=)
c.495T>C (p.Thr165=)
c.1308T>C (p.Thr436=)
c.1212T>C (p.Thr404=)
c.8370+124140A>G (n.8370+124140A>G)
 dbSNP gnomAD v4
2g.108897186A>TCA427910862EDAR,RANBP2c.1068T>A (p.Thr356=)
c.1164T>A (p.Thr388=)
c.1215T>A (p.Thr405=)
c.1119T>A (p.Thr373=)
c.495T>A (p.Thr165=)
c.1308T>A (p.Thr436=)
c.1212T>A (p.Thr404=)
c.8370+124140A>T (n.8370+124140A>T)
 gnomAD v4
2g.108897187G>ACA348048395EDAR,RANBP2c.1067C>T (p.Thr356Ile)
c.1163C>T (p.Thr388Ile)
c.1214C>T (p.Thr405Ile)
c.1118C>T (p.Thr373Ile)
c.494C>T (p.Thr165Ile)
c.1307C>T (p.Thr436Ile)
c.1211C>T (p.Thr404Ile)
c.8370+124141G>A (n.8370+124141G>A)
2g.108897187G>CCA348048397EDAR,RANBP2c.1067C>G (p.Thr356Ser)
c.1163C>G (p.Thr388Ser)
c.1214C>G (p.Thr405Ser)
c.1118C>G (p.Thr373Ser)
c.494C>G (p.Thr165Ser)
c.1307C>G (p.Thr436Ser)
c.1211C>G (p.Thr404Ser)
c.8370+124141G>C (n.8370+124141G>C)
2g.108897187G>TCA348048399EDAR,RANBP2c.1067C>A (p.Thr356Asn)
c.1163C>A (p.Thr388Asn)
c.1214C>A (p.Thr405Asn)
c.1118C>A (p.Thr373Asn)
c.494C>A (p.Thr165Asn)
c.1307C>A (p.Thr436Asn)
c.1211C>A (p.Thr404Asn)
c.8370+124141G>T (n.8370+124141G>T)
2g.108897187_108897190delinsGTCTCA1278354319EDAR,RANBP2c.1064_1067delinsAGAC (p.Lys355=)
c.1160_1163delinsAGAC (p.Lys387=)
c.1211_1214delinsAGAC (p.Lys404=)
c.1115_1118delinsAGAC (p.Lys372=)
c.491_494delinsAGAC (p.Lys164=)
c.1304_1307delinsAGAC (p.Lys435=)
c.1208_1211delinsAGAC (p.Lys403=)
c.8370+124141_8370+124144delinsGTCT (n.8370+124141_8370+124144delinsGTCT)
2g.108897188T>ACA348048400EDAR,RANBP2c.1066A>T (p.Thr356Ser)
c.1162A>T (p.Thr388Ser)
c.1213A>T (p.Thr405Ser)
c.1117A>T (p.Thr373Ser)
c.493A>T (p.Thr165Ser)
c.1306A>T (p.Thr436Ser)
c.1210A>T (p.Thr404Ser)
c.8370+124142T>A (n.8370+124142T>A)
2g.108897188T>CCA348048402EDAR,RANBP2c.1066A>G (p.Thr356Ala)
c.1162A>G (p.Thr388Ala)
c.1213A>G (p.Thr405Ala)
c.1117A>G (p.Thr373Ala)
c.493A>G (p.Thr165Ala)
c.1306A>G (p.Thr436Ala)
c.1210A>G (p.Thr404Ala)
c.8370+124142T>C (n.8370+124142T>C)
2g.108897188T>GCA348048403EDAR,RANBP2c.1066A>C (p.Thr356Pro)
c.1162A>C (p.Thr388Pro)
c.1213A>C (p.Thr405Pro)
c.1117A>C (p.Thr373Pro)
c.493A>C (p.Thr165Pro)
c.1306A>C (p.Thr436Pro)
c.1210A>C (p.Thr404Pro)
c.8370+124142T>G (n.8370+124142T>G)
2g.108897191_108897193delCA915944093EDAR,RANBP2c.1064_1066del (p.Lys355del)
c.1160_1162del (p.Lys387del)
c.1211_1213del (p.Lys404del)
c.1115_1117del (p.Lys372del)
c.491_493del (p.Lys164del)
c.1304_1306del (p.Lys435del)
c.1208_1210del (p.Lys403del)
c.8370+124145_8370+124147del (n.8370+124145_8370+124147del)
 ClinVar dbSNP
2g.108897189C>ACA348048406EDAR,RANBP2c.1065G>T (p.Lys355Asn)
c.1161G>T (p.Lys387Asn)
c.1212G>T (p.Lys404Asn)
c.1116G>T (p.Lys372Asn)
c.492G>T (p.Lys164Asn)
c.1305G>T (p.Lys435Asn)
c.1209G>T (p.Lys403Asn)
c.8370+124143C>A (n.8370+124143C>A)
2g.108897189C>GCA348048409EDAR,RANBP2c.1065G>C (p.Lys355Asn)
c.1161G>C (p.Lys387Asn)
c.1212G>C (p.Lys404Asn)
c.1116G>C (p.Lys372Asn)
c.492G>C (p.Lys164Asn)
c.1305G>C (p.Lys435Asn)
c.1209G>C (p.Lys403Asn)
c.8370+124143C>G (n.8370+124143C>G)
2g.108897189C>TCA427910865EDAR,RANBP2c.1065G>A (p.Lys355=)
c.1161G>A (p.Lys387=)
c.1212G>A (p.Lys404=)
c.1116G>A (p.Lys372=)
c.492G>A (p.Lys164=)
c.1305G>A (p.Lys435=)
c.1209G>A (p.Lys403=)
c.8370+124143C>T (n.8370+124143C>T)
 gnomAD v4
2g.108897190T>ACA348048411EDAR,RANBP2c.1064A>T (p.Lys355Met)
c.1160A>T (p.Lys387Met)
c.1211A>T (p.Lys404Met)
c.1115A>T (p.Lys372Met)
c.491A>T (p.Lys164Met)
c.1304A>T (p.Lys435Met)
c.1208A>T (p.Lys403Met)
c.8370+124144T>A (n.8370+124144T>A)
2g.108897190T>CCA1824823EDAR,RANBP2c.1064A>G (p.Lys355Arg)
c.1160A>G (p.Lys387Arg)
c.1211A>G (p.Lys404Arg)
c.1115A>G (p.Lys372Arg)
c.491A>G (p.Lys164Arg)
c.1304A>G (p.Lys435Arg)
c.1208A>G (p.Lys403Arg)
c.8370+124144T>C (n.8370+124144T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.108897190T>GCA348048414EDAR,RANBP2c.1064A>C (p.Lys355Thr)
c.1160A>C (p.Lys387Thr)
c.1211A>C (p.Lys404Thr)
c.1115A>C (p.Lys372Thr)
c.491A>C (p.Lys164Thr)
c.1304A>C (p.Lys435Thr)
c.1208A>C (p.Lys403Thr)
c.8370+124144T>G (n.8370+124144T>G)
2g.108897190T=CA1278354320EDAR,RANBP2c.1064A= (p.Lys355=)
c.1160A= (p.Lys387=)
c.1211A= (p.Lys404=)
c.1115A= (p.Lys372=)
c.491A= (p.Lys164=)
c.1304A= (p.Lys435=)
c.1208A= (p.Lys403=)
c.8370+124144T= (n.8370+124144T=)
2g.108897191T>ACA348048418EDAR,RANBP2c.1063A>T (p.Lys355Ter)
c.1159A>T (p.Lys387Ter)
c.1210A>T (p.Lys404Ter)
c.1114A>T (p.Lys372Ter)
c.490A>T (p.Lys164Ter)
c.1303A>T (p.Lys435Ter)
c.1207A>T (p.Lys403Ter)
c.8370+124145T>A (n.8370+124145T>A)
2g.108897191T>CCA348048421EDAR,RANBP2c.1063A>G (p.Lys355Glu)
c.1159A>G (p.Lys387Glu)
c.1210A>G (p.Lys404Glu)
c.1114A>G (p.Lys372Glu)
c.490A>G (p.Lys164Glu)
c.1303A>G (p.Lys435Glu)
c.1207A>G (p.Lys403Glu)
c.8370+124145T>C (n.8370+124145T>C)
2g.108897191T>GCA348048419EDAR,RANBP2c.1063A>C (p.Lys355Gln)
c.1159A>C (p.Lys387Gln)
c.1210A>C (p.Lys404Gln)
c.1114A>C (p.Lys372Gln)
c.490A>C (p.Lys164Gln)
c.1303A>C (p.Lys435Gln)
c.1207A>C (p.Lys403Gln)
c.8370+124145T>G (n.8370+124145T>G)
2g.108897192C>ACA1824824EDAR,RANBP2c.1062G>T (p.Glu354Asp)
c.1158G>T (p.Glu386Asp)
c.1209G>T (p.Glu403Asp)
c.1113G>T (p.Glu371Asp)
c.489G>T (p.Glu163Asp)
c.1302G>T (p.Glu434Asp)
c.1206G>T (p.Glu402Asp)
c.8370+124146C>A (n.8370+124146C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897192C=CA1278354321EDAR,RANBP2c.1062G= (p.Glu354=)
c.1158G= (p.Glu386=)
c.1209G= (p.Glu403=)
c.1113G= (p.Glu371=)
c.489G= (p.Glu163=)
c.1302G= (p.Glu434=)
c.1206G= (p.Glu402=)
c.8370+124146C= (n.8370+124146C=)
2g.108897192C>GCA348048434EDAR,RANBP2c.1062G>C (p.Glu354Asp)
c.1158G>C (p.Glu386Asp)
c.1209G>C (p.Glu403Asp)
c.1113G>C (p.Glu371Asp)
c.489G>C (p.Glu163Asp)
c.1302G>C (p.Glu434Asp)
c.1206G>C (p.Glu402Asp)
c.8370+124146C>G (n.8370+124146C>G)
2g.108897192C>TCA427910870EDAR,RANBP2c.1062G>A (p.Glu354=)
c.1158G>A (p.Glu386=)
c.1209G>A (p.Glu403=)
c.1113G>A (p.Glu371=)
c.489G>A (p.Glu163=)
c.1302G>A (p.Glu434=)
c.1206G>A (p.Glu402=)
c.8370+124146C>T (n.8370+124146C>T)
2g.108897193T>ACA348048436EDAR,RANBP2c.1061A>T (p.Glu354Val)
c.1157A>T (p.Glu386Val)
c.1208A>T (p.Glu403Val)
c.1112A>T (p.Glu371Val)
c.488A>T (p.Glu163Val)
c.1301A>T (p.Glu434Val)
c.1205A>T (p.Glu402Val)
c.8370+124147T>A (n.8370+124147T>A)
2g.108897193T>CCA348048439EDAR,RANBP2c.1061A>G (p.Glu354Gly)
c.1157A>G (p.Glu386Gly)
c.1208A>G (p.Glu403Gly)
c.1112A>G (p.Glu371Gly)
c.488A>G (p.Glu163Gly)
c.1301A>G (p.Glu434Gly)
c.1205A>G (p.Glu402Gly)
c.8370+124147T>C (n.8370+124147T>C)
2g.108897193T>GCA348048442EDAR,RANBP2c.1061A>C (p.Glu354Ala)
c.1157A>C (p.Glu386Ala)
c.1208A>C (p.Glu403Ala)
c.1112A>C (p.Glu371Ala)
c.488A>C (p.Glu163Ala)
c.1301A>C (p.Glu434Ala)
c.1205A>C (p.Glu402Ala)
c.8370+124147T>G (n.8370+124147T>G)
2g.108897194C>ACA117811EDAR,RANBP2c.1060G>T (p.Glu354Ter)
c.1156G>T (p.Glu386Ter)
c.1207G>T (p.Glu403Ter)
c.1111G>T (p.Glu371Ter)
c.487G>T (p.Glu163Ter)
c.1300G>T (p.Glu434Ter)
c.1204G>T (p.Glu402Ter)
c.8370+124148C>A (n.8370+124148C>A)
 ClinVar dbSNP gnomAD v4
2g.108897194C=CA1278354322EDAR,RANBP2c.1060G= (p.Glu354=)
c.1156G= (p.Glu386=)
c.1207G= (p.Glu403=)
c.1111G= (p.Glu371=)
c.487G= (p.Glu163=)
c.1300G= (p.Glu434=)
c.1204G= (p.Glu402=)
c.8370+124148C= (n.8370+124148C=)
2g.108897194C>GCA348048446EDAR,RANBP2c.1060G>C (p.Glu354Gln)
c.1156G>C (p.Glu386Gln)
c.1207G>C (p.Glu403Gln)
c.1111G>C (p.Glu371Gln)
c.487G>C (p.Glu163Gln)
c.1300G>C (p.Glu434Gln)
c.1204G>C (p.Glu402Gln)
c.8370+124148C>G (n.8370+124148C>G)
2g.108897194C>TCA348048449EDAR,RANBP2c.1060G>A (p.Glu354Lys)
c.1156G>A (p.Glu386Lys)
c.1207G>A (p.Glu403Lys)
c.1111G>A (p.Glu371Lys)
c.487G>A (p.Glu163Lys)
c.1300G>A (p.Glu434Lys)
c.1204G>A (p.Glu402Lys)
c.8370+124148C>T (n.8370+124148C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108897195G>ACA1824825EDAR,RANBP2c.1059C>T (p.Leu353=)
c.1155C>T (p.Leu385=)
c.1206C>T (p.Leu402=)
c.1110C>T (p.Leu370=)
c.486C>T (p.Leu162=)
c.1299C>T (p.Leu433=)
c.1203C>T (p.Leu401=)
c.8370+124149G>A (n.8370+124149G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897195G>CCA427910877EDAR,RANBP2c.1059C>G (p.Leu353=)
c.1155C>G (p.Leu385=)
c.1206C>G (p.Leu402=)
c.1110C>G (p.Leu370=)
c.486C>G (p.Leu162=)
c.1299C>G (p.Leu433=)
c.1203C>G (p.Leu401=)
c.8370+124149G>C (n.8370+124149G>C)
 gnomAD v4
2g.108897195G=CA1278354323EDAR,RANBP2c.1059C= (p.Leu353=)
c.1155C= (p.Leu385=)
c.1206C= (p.Leu402=)
c.1110C= (p.Leu370=)
c.486C= (p.Leu162=)
c.1299C= (p.Leu433=)
c.1203C= (p.Leu401=)
c.8370+124149G= (n.8370+124149G=)
2g.108897195G>TCA427910878EDAR,RANBP2c.1059C>A (p.Leu353=)
c.1155C>A (p.Leu385=)
c.1206C>A (p.Leu402=)
c.1110C>A (p.Leu370=)
c.486C>A (p.Leu162=)
c.1299C>A (p.Leu433=)
c.1203C>A (p.Leu401=)
c.8370+124149G>T (n.8370+124149G>T)
 gnomAD v4
2g.108897196A>CCA348048454EDAR,RANBP2c.1058T>G (p.Leu353Arg)
c.1154T>G (p.Leu385Arg)
c.1205T>G (p.Leu402Arg)
c.1109T>G (p.Leu370Arg)
c.485T>G (p.Leu162Arg)
c.1298T>G (p.Leu433Arg)
c.1202T>G (p.Leu401Arg)
c.8370+124150A>C (n.8370+124150A>C)
2g.108897196A>GCA348048457EDAR,RANBP2c.1058T>C (p.Leu353Pro)
c.1154T>C (p.Leu385Pro)
c.1205T>C (p.Leu402Pro)
c.1109T>C (p.Leu370Pro)
c.485T>C (p.Leu162Pro)
c.1298T>C (p.Leu433Pro)
c.1202T>C (p.Leu401Pro)
c.8370+124150A>G (n.8370+124150A>G)
2g.108897196A>TCA348048459EDAR,RANBP2c.1058T>A (p.Leu353His)
c.1154T>A (p.Leu385His)
c.1205T>A (p.Leu402His)
c.1109T>A (p.Leu370His)
c.485T>A (p.Leu162His)
c.1298T>A (p.Leu433His)
c.1202T>A (p.Leu401His)
c.8370+124150A>T (n.8370+124150A>T)
2g.108897197G>ACA348048469EDAR,RANBP2c.1057C>T (p.Leu353Phe)
c.1153C>T (p.Leu385Phe)
c.1204C>T (p.Leu402Phe)
c.1108C>T (p.Leu370Phe)
c.484C>T (p.Leu162Phe)
c.1297C>T (p.Leu433Phe)
c.1201C>T (p.Leu401Phe)
c.8370+124151G>A (n.8370+124151G>A)
 ClinVar
2g.108897197G>CCA348048463EDAR,RANBP2c.1057C>G (p.Leu353Val)
c.1153C>G (p.Leu385Val)
c.1204C>G (p.Leu402Val)
c.1108C>G (p.Leu370Val)
c.484C>G (p.Leu162Val)
c.1297C>G (p.Leu433Val)
c.1201C>G (p.Leu401Val)
c.8370+124151G>C (n.8370+124151G>C)
2g.108897197G>TCA348048466EDAR,RANBP2c.1057C>A (p.Leu353Ile)
c.1153C>A (p.Leu385Ile)
c.1204C>A (p.Leu402Ile)
c.1108C>A (p.Leu370Ile)
c.484C>A (p.Leu162Ile)
c.1297C>A (p.Leu433Ile)
c.1201C>A (p.Leu401Ile)
c.8370+124151G>T (n.8370+124151G>T)
2g.108897198G>ACA210913EDAR,RANBP2c.1056C>T (p.Cys352=)
c.1152C>T (p.Cys384=)
c.1203C>T (p.Cys401=)
c.1107C>T (p.Cys369=)
c.483C>T (p.Cys161=)
c.1296C>T (p.Cys432=)
c.1200C>T (p.Cys400=)
c.8370+124152G>A (n.8370+124152G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897198G>CCA348048474EDAR,RANBP2c.1056C>G (p.Cys352Trp)
c.1152C>G (p.Cys384Trp)
c.1203C>G (p.Cys401Trp)
c.1107C>G (p.Cys369Trp)
c.483C>G (p.Cys161Trp)
c.1296C>G (p.Cys432Trp)
c.1200C>G (p.Cys400Trp)
c.8370+124152G>C (n.8370+124152G>C)
 dbSNP
2g.108897198G=CA1278354324EDAR,RANBP2c.1056C= (p.Cys352=)
c.1152C= (p.Cys384=)
c.1203C= (p.Cys401=)
c.1107C= (p.Cys369=)
c.483C= (p.Cys161=)
c.1296C= (p.Cys432=)
c.1200C= (p.Cys400=)
c.8370+124152G= (n.8370+124152G=)
2g.108897198G>TCA348048477EDAR,RANBP2c.1056C>A (p.Cys352Ter)
c.1152C>A (p.Cys384Ter)
c.1203C>A (p.Cys401Ter)
c.1107C>A (p.Cys369Ter)
c.483C>A (p.Cys161Ter)
c.1296C>A (p.Cys432Ter)
c.1200C>A (p.Cys400Ter)
c.8370+124152G>T (n.8370+124152G>T)
 dbSNP gnomAD v4
2g.108897199C>ACA348048479EDAR,RANBP2c.1055G>T (p.Cys352Phe)
c.1151G>T (p.Cys384Phe)
c.1202G>T (p.Cys401Phe)
c.1106G>T (p.Cys369Phe)
c.482G>T (p.Cys161Phe)
c.1295G>T (p.Cys432Phe)
c.1199G>T (p.Cys400Phe)
c.8370+124153C>A (n.8370+124153C>A)
2g.108897199C>GCA348048480EDAR,RANBP2c.1055G>C (p.Cys352Ser)
c.1151G>C (p.Cys384Ser)
c.1202G>C (p.Cys401Ser)
c.1106G>C (p.Cys369Ser)
c.482G>C (p.Cys161Ser)
c.1295G>C (p.Cys432Ser)
c.1199G>C (p.Cys400Ser)
c.8370+124153C>G (n.8370+124153C>G)
2g.108897199C>TCA348048481EDAR,RANBP2c.1055G>A (p.Cys352Tyr)
c.1151G>A (p.Cys384Tyr)
c.1202G>A (p.Cys401Tyr)
c.1106G>A (p.Cys369Tyr)
c.482G>A (p.Cys161Tyr)
c.1295G>A (p.Cys432Tyr)
c.1199G>A (p.Cys400Tyr)
c.8370+124153C>T (n.8370+124153C>T)
2g.108897202_108897205delCA2586969743EDAR,RANBP2c.1052_1055del (p.Asp351AlafsTer20)
c.1148_1151del (p.Asp383AlafsTer20)
c.1199_1202del (p.Asp400AlafsTer20)
c.1103_1106del (p.Asp368AlafsTer20)
c.479_482del (p.Asp160AlafsTer20)
c.1292_1295del (p.Asp431AlafsTer20)
c.1196_1199del (p.Asp399AlafsTer20)
c.8370+124156_8370+124159del (n.8370+124156_8370+124159del)
2g.108897200A>CCA348048482EDAR,RANBP2c.1054T>G (p.Cys352Gly)
c.1150T>G (p.Cys384Gly)
c.1201T>G (p.Cys401Gly)
c.1105T>G (p.Cys369Gly)
c.481T>G (p.Cys161Gly)
c.1294T>G (p.Cys432Gly)
c.1198T>G (p.Cys400Gly)
c.8370+124154A>C (n.8370+124154A>C)
2g.108897200A>GCA348048483EDAR,RANBP2c.1054T>C (p.Cys352Arg)
c.1150T>C (p.Cys384Arg)
c.1201T>C (p.Cys401Arg)
c.1105T>C (p.Cys369Arg)
c.481T>C (p.Cys161Arg)
c.1294T>C (p.Cys432Arg)
c.1198T>C (p.Cys400Arg)
c.8370+124154A>G (n.8370+124154A>G)
2g.108897200A>TCA348048484EDAR,RANBP2c.1054T>A (p.Cys352Ser)
c.1150T>A (p.Cys384Ser)
c.1201T>A (p.Cys401Ser)
c.1105T>A (p.Cys369Ser)
c.481T>A (p.Cys161Ser)
c.1294T>A (p.Cys432Ser)
c.1198T>A (p.Cys400Ser)
c.8370+124154A>T (n.8370+124154A>T)
2g.108897201A>CCA348048485EDAR,RANBP2c.1053T>G (p.Asp351Glu)
c.1149T>G (p.Asp383Glu)
c.1200T>G (p.Asp400Glu)
c.1104T>G (p.Asp368Glu)
c.480T>G (p.Asp160Glu)
c.1293T>G (p.Asp431Glu)
c.1197T>G (p.Asp399Glu)
c.8370+124155A>C (n.8370+124155A>C)
2g.108897201A>GCA427910890EDAR,RANBP2c.1053T>C (p.Asp351=)
c.1149T>C (p.Asp383=)
c.1200T>C (p.Asp400=)
c.1104T>C (p.Asp368=)
c.480T>C (p.Asp160=)
c.1293T>C (p.Asp431=)
c.1197T>C (p.Asp399=)
c.8370+124155A>G (n.8370+124155A>G)
2g.108897201A>TCA348048486EDAR,RANBP2c.1053T>A (p.Asp351Glu)
c.1149T>A (p.Asp383Glu)
c.1200T>A (p.Asp400Glu)
c.1104T>A (p.Asp368Glu)
c.480T>A (p.Asp160Glu)
c.1293T>A (p.Asp431Glu)
c.1197T>A (p.Asp399Glu)
c.8370+124155A>T (n.8370+124155A>T)
2g.108897202T>ACA348048492EDAR,RANBP2c.1052A>T (p.Asp351Val)
c.1148A>T (p.Asp383Val)
c.1199A>T (p.Asp400Val)
c.1103A>T (p.Asp368Val)
c.479A>T (p.Asp160Val)
c.1292A>T (p.Asp431Val)
c.1196A>T (p.Asp399Val)
c.8370+124156T>A (n.8370+124156T>A)
2g.108897202T>CCA348048494EDAR,RANBP2c.1052A>G (p.Asp351Gly)
c.1148A>G (p.Asp383Gly)
c.1199A>G (p.Asp400Gly)
c.1103A>G (p.Asp368Gly)
c.479A>G (p.Asp160Gly)
c.1292A>G (p.Asp431Gly)
c.1196A>G (p.Asp399Gly)
c.8370+124156T>C (n.8370+124156T>C)
2g.108897202T>GCA348048488EDAR,RANBP2c.1052A>C (p.Asp351Ala)
c.1148A>C (p.Asp383Ala)
c.1199A>C (p.Asp400Ala)
c.1103A>C (p.Asp368Ala)
c.479A>C (p.Asp160Ala)
c.1292A>C (p.Asp431Ala)
c.1196A>C (p.Asp399Ala)
c.8370+124156T>G (n.8370+124156T>G)
2g.108897203C>ACA348048501EDAR,RANBP2c.1051G>T (p.Asp351Tyr)
c.1147G>T (p.Asp383Tyr)
c.1198G>T (p.Asp400Tyr)
c.1102G>T (p.Asp368Tyr)
c.478G>T (p.Asp160Tyr)
c.1291G>T (p.Asp431Tyr)
c.1195G>T (p.Asp399Tyr)
c.8370+124157C>A (n.8370+124157C>A)
 dbSNP gnomAD v4
2g.108897203C=CA1278354325EDAR,RANBP2c.1051G= (p.Asp351=)
c.1147G= (p.Asp383=)
c.1198G= (p.Asp400=)
c.1102G= (p.Asp368=)
c.478G= (p.Asp160=)
c.1291G= (p.Asp431=)
c.1195G= (p.Asp399=)
c.8370+124157C= (n.8370+124157C=)
2g.108897203C>GCA348048496EDAR,RANBP2c.1051G>C (p.Asp351His)
c.1147G>C (p.Asp383His)
c.1198G>C (p.Asp400His)
c.1102G>C (p.Asp368His)
c.478G>C (p.Asp160His)
c.1291G>C (p.Asp431His)
c.1195G>C (p.Asp399His)
c.8370+124157C>G (n.8370+124157C>G)
2g.108897203C>TCA348048499EDAR,RANBP2c.1051G>A (p.Asp351Asn)
c.1147G>A (p.Asp383Asn)
c.1198G>A (p.Asp400Asn)
c.1102G>A (p.Asp368Asn)
c.478G>A (p.Asp160Asn)
c.1291G>A (p.Asp431Asn)
c.1195G>A (p.Asp399Asn)
c.8370+124157C>T (n.8370+124157C>T)
2g.108897204A>CCA348048503EDAR,RANBP2c.1050T>G (p.Phe350Leu)
c.1146T>G (p.Phe382Leu)
c.1197T>G (p.Phe399Leu)
c.1101T>G (p.Phe367Leu)
c.477T>G (p.Phe159Leu)
c.1290T>G (p.Phe430Leu)
c.1194T>G (p.Phe398Leu)
c.8370+124158A>C (n.8370+124158A>C)
2g.108897204A>GCA427910895EDAR,RANBP2c.1050T>C (p.Phe350=)
c.1146T>C (p.Phe382=)
c.1197T>C (p.Phe399=)
c.1101T>C (p.Phe367=)
c.477T>C (p.Phe159=)
c.1290T>C (p.Phe430=)
c.1194T>C (p.Phe398=)
c.8370+124158A>G (n.8370+124158A>G)
2g.108897204A>TCA348048505EDAR,RANBP2c.1050T>A (p.Phe350Leu)
c.1146T>A (p.Phe382Leu)
c.1197T>A (p.Phe399Leu)
c.1101T>A (p.Phe367Leu)
c.477T>A (p.Phe159Leu)
c.1290T>A (p.Phe430Leu)
c.1194T>A (p.Phe398Leu)
c.8370+124158A>T (n.8370+124158A>T)
2g.108897205A>CCA348048507EDAR,RANBP2c.1049T>G (p.Phe350Cys)
c.1145T>G (p.Phe382Cys)
c.1196T>G (p.Phe399Cys)
c.1100T>G (p.Phe367Cys)
c.476T>G (p.Phe159Cys)
c.1289T>G (p.Phe430Cys)
c.1193T>G (p.Phe398Cys)
c.8370+124159A>C (n.8370+124159A>C)
2g.108897205A>GCA348048510EDAR,RANBP2c.1049T>C (p.Phe350Ser)
c.1145T>C (p.Phe382Ser)
c.1196T>C (p.Phe399Ser)
c.1100T>C (p.Phe367Ser)
c.476T>C (p.Phe159Ser)
c.1289T>C (p.Phe430Ser)
c.1193T>C (p.Phe398Ser)
c.8370+124159A>G (n.8370+124159A>G)
2g.108897205A>TCA348048512EDAR,RANBP2c.1049T>A (p.Phe350Tyr)
c.1145T>A (p.Phe382Tyr)
c.1196T>A (p.Phe399Tyr)
c.1100T>A (p.Phe367Tyr)
c.476T>A (p.Phe159Tyr)
c.1289T>A (p.Phe430Tyr)
c.1193T>A (p.Phe398Tyr)
c.8370+124159A>T (n.8370+124159A>T)
2g.108897206A>CCA348048514EDAR,RANBP2c.1048T>G (p.Phe350Val)
c.1144T>G (p.Phe382Val)
c.1195T>G (p.Phe399Val)
c.1099T>G (p.Phe367Val)
c.475T>G (p.Phe159Val)
c.1288T>G (p.Phe430Val)
c.1192T>G (p.Phe398Val)
c.8370+124160A>C (n.8370+124160A>C)
 gnomAD v4
2g.108897206A>GCA348048516EDAR,RANBP2c.1048T>C (p.Phe350Leu)
c.1144T>C (p.Phe382Leu)
c.1195T>C (p.Phe399Leu)
c.1099T>C (p.Phe367Leu)
c.475T>C (p.Phe159Leu)
c.1288T>C (p.Phe430Leu)
c.1192T>C (p.Phe398Leu)
c.8370+124160A>G (n.8370+124160A>G)
2g.108897206A>TCA348048518EDAR,RANBP2c.1048T>A (p.Phe350Ile)
c.1144T>A (p.Phe382Ile)
c.1195T>A (p.Phe399Ile)
c.1099T>A (p.Phe367Ile)
c.475T>A (p.Phe159Ile)
c.1288T>A (p.Phe430Ile)
c.1192T>A (p.Phe398Ile)
c.8370+124160A>T (n.8370+124160A>T)
2g.108897207T>ACA427910904EDAR,RANBP2c.1047A>T (p.Pro349=)
c.1143A>T (p.Pro381=)
c.1194A>T (p.Pro398=)
c.1098A>T (p.Pro366=)
c.474A>T (p.Pro158=)
c.1287A>T (p.Pro429=)
c.1191A>T (p.Pro397=)
c.8370+124161T>A (n.8370+124161T>A)
2g.108897207T>CCA1824826EDAR,RANBP2c.1047A>G (p.Pro349=)
c.1143A>G (p.Pro381=)
c.1194A>G (p.Pro398=)
c.1098A>G (p.Pro366=)
c.474A>G (p.Pro158=)
c.1287A>G (p.Pro429=)
c.1191A>G (p.Pro397=)
c.8370+124161T>C (n.8370+124161T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897207T>GCA427910906EDAR,RANBP2c.1047A>C (p.Pro349=)
c.1143A>C (p.Pro381=)
c.1194A>C (p.Pro398=)
c.1098A>C (p.Pro366=)
c.474A>C (p.Pro158=)
c.1287A>C (p.Pro429=)
c.1191A>C (p.Pro397=)
c.8370+124161T>G (n.8370+124161T>G)
2g.108897207T=CA1278354326EDAR,RANBP2c.1047A= (p.Pro349=)
c.1143A= (p.Pro381=)
c.1194A= (p.Pro398=)
c.1098A= (p.Pro366=)
c.474A= (p.Pro158=)
c.1287A= (p.Pro429=)
c.1191A= (p.Pro397=)
c.8370+124161T= (n.8370+124161T=)
2g.108897208G>ACA348048528EDAR,RANBP2c.1046C>T (p.Pro349Leu)
c.1142C>T (p.Pro381Leu)
c.1193C>T (p.Pro398Leu)
c.1097C>T (p.Pro366Leu)
c.473C>T (p.Pro158Leu)
c.1286C>T (p.Pro429Leu)
c.1190C>T (p.Pro397Leu)
c.8370+124162G>A (n.8370+124162G>A)
 COSMIC COSMIC
2g.108897208G>CCA348048526EDAR,RANBP2c.1046C>G (p.Pro349Arg)
c.1142C>G (p.Pro381Arg)
c.1193C>G (p.Pro398Arg)
c.1097C>G (p.Pro366Arg)
c.473C>G (p.Pro158Arg)
c.1286C>G (p.Pro429Arg)
c.1190C>G (p.Pro397Arg)
c.8370+124162G>C (n.8370+124162G>C)
2g.108897208G>TCA348048523EDAR,RANBP2c.1046C>A (p.Pro349Gln)
c.1142C>A (p.Pro381Gln)
c.1193C>A (p.Pro398Gln)
c.1097C>A (p.Pro366Gln)
c.473C>A (p.Pro158Gln)
c.1286C>A (p.Pro429Gln)
c.1190C>A (p.Pro397Gln)
c.8370+124162G>T (n.8370+124162G>T)
 gnomAD v4
2g.108897209G>ACA348048532EDAR,RANBP2c.1045C>T (p.Pro349Ser)
c.1141C>T (p.Pro381Ser)
c.1192C>T (p.Pro398Ser)
c.1096C>T (p.Pro366Ser)
c.472C>T (p.Pro158Ser)
c.1285C>T (p.Pro429Ser)
c.1189C>T (p.Pro397Ser)
c.8370+124163G>A (n.8370+124163G>A)
2g.108897209G>CCA348048533EDAR,RANBP2c.1045C>G (p.Pro349Ala)
c.1141C>G (p.Pro381Ala)
c.1192C>G (p.Pro398Ala)
c.1096C>G (p.Pro366Ala)
c.472C>G (p.Pro158Ala)
c.1285C>G (p.Pro429Ala)
c.1189C>G (p.Pro397Ala)
c.8370+124163G>C (n.8370+124163G>C)
2g.108897209G>TCA348048536EDAR,RANBP2c.1045C>A (p.Pro349Thr)
c.1141C>A (p.Pro381Thr)
c.1192C>A (p.Pro398Thr)
c.1096C>A (p.Pro366Thr)
c.472C>A (p.Pro158Thr)
c.1285C>A (p.Pro429Thr)
c.1189C>A (p.Pro397Thr)
c.8370+124163G>T (n.8370+124163G>T)
2g.108897210C>ACA427910912EDAR,RANBP2c.1044G>T (p.Leu348=)
c.1140G>T (p.Leu380=)
c.1191G>T (p.Leu397=)
c.1095G>T (p.Leu365=)
c.471G>T (p.Leu157=)
c.1284G>T (p.Leu428=)
c.1188G>T (p.Leu396=)
c.8370+124164C>A (n.8370+124164C>A)
2g.108897210C>GCA427910913EDAR,RANBP2c.1044G>C (p.Leu348=)
c.1140G>C (p.Leu380=)
c.1191G>C (p.Leu397=)
c.1095G>C (p.Leu365=)
c.471G>C (p.Leu157=)
c.1284G>C (p.Leu428=)
c.1188G>C (p.Leu396=)
c.8370+124164C>G (n.8370+124164C>G)
2g.108897210C>TCA427910915EDAR,RANBP2c.1044G>A (p.Leu348=)
c.1140G>A (p.Leu380=)
c.1191G>A (p.Leu397=)
c.1095G>A (p.Leu365=)
c.471G>A (p.Leu157=)
c.1284G>A (p.Leu428=)
c.1188G>A (p.Leu396=)
c.8370+124164C>T (n.8370+124164C>T)
 gnomAD v4
2g.108897211A>CCA348048539EDAR,RANBP2c.1043T>G (p.Leu348Arg)
c.1139T>G (p.Leu380Arg)
c.1190T>G (p.Leu397Arg)
c.1094T>G (p.Leu365Arg)
c.470T>G (p.Leu157Arg)
c.1283T>G (p.Leu428Arg)
c.1187T>G (p.Leu396Arg)
c.8370+124165A>C (n.8370+124165A>C)
2g.108897211A>GCA348048542EDAR,RANBP2c.1043T>C (p.Leu348Pro)
c.1139T>C (p.Leu380Pro)
c.1190T>C (p.Leu397Pro)
c.1094T>C (p.Leu365Pro)
c.470T>C (p.Leu157Pro)
c.1283T>C (p.Leu428Pro)
c.1187T>C (p.Leu396Pro)
c.8370+124165A>G (n.8370+124165A>G)
2g.108897211A>TCA348048545EDAR,RANBP2c.1043T>A (p.Leu348Gln)
c.1139T>A (p.Leu380Gln)
c.1190T>A (p.Leu397Gln)
c.1094T>A (p.Leu365Gln)
c.470T>A (p.Leu157Gln)
c.1283T>A (p.Leu428Gln)
c.1187T>A (p.Leu396Gln)
c.8370+124165A>T (n.8370+124165A>T)
2g.108897212G>ACA427910920EDAR,RANBP2c.1042C>T (p.Leu348=)
c.1138C>T (p.Leu380=)
c.1189C>T (p.Leu397=)
c.1093C>T (p.Leu365=)
c.469C>T (p.Leu157=)
c.1282C>T (p.Leu428=)
c.1186C>T (p.Leu396=)
c.8370+124166G>A (n.8370+124166G>A)
2g.108897212G>CCA348048548EDAR,RANBP2c.1042C>G (p.Leu348Val)
c.1138C>G (p.Leu380Val)
c.1189C>G (p.Leu397Val)
c.1093C>G (p.Leu365Val)
c.469C>G (p.Leu157Val)
c.1282C>G (p.Leu428Val)
c.1186C>G (p.Leu396Val)
c.8370+124166G>C (n.8370+124166G>C)
2g.108897212G>TCA348048549EDAR,RANBP2c.1042C>A (p.Leu348Met)
c.1138C>A (p.Leu380Met)
c.1189C>A (p.Leu397Met)
c.1093C>A (p.Leu365Met)
c.469C>A (p.Leu157Met)
c.1282C>A (p.Leu428Met)
c.1186C>A (p.Leu396Met)
c.8370+124166G>T (n.8370+124166G>T)
2g.108897213delCA2586969744EDAR,RANBP2c.1041del (p.Glu347AspfsTer25)
c.1137del (p.Glu379AspfsTer25)
c.1188del (p.Glu396AspfsTer25)
c.1092del (p.Glu364AspfsTer25)
c.468del (p.Glu156AspfsTer25)
c.1281del (p.Glu427AspfsTer25)
c.1185del (p.Glu395AspfsTer25)
c.8370+124167del (n.8370+124167del)
2g.108897213C>ACA348048552EDAR,RANBP2c.1041G>T (p.Glu347Asp)
c.1137G>T (p.Glu379Asp)
c.1188G>T (p.Glu396Asp)
c.1092G>T (p.Glu364Asp)
c.468G>T (p.Glu156Asp)
c.1281G>T (p.Glu427Asp)
c.1185G>T (p.Glu395Asp)
c.8370+124167C>A (n.8370+124167C>A)
 dbSNP
2g.108897213C>GCA348048555EDAR,RANBP2c.1041G>C (p.Glu347Asp)
c.1137G>C (p.Glu379Asp)
c.1188G>C (p.Glu396Asp)
c.1092G>C (p.Glu364Asp)
c.468G>C (p.Glu156Asp)
c.1281G>C (p.Glu427Asp)
c.1185G>C (p.Glu395Asp)
c.8370+124167C>G (n.8370+124167C>G)
2g.108897213C>TCA427910925EDAR,RANBP2c.1041G>A (p.Glu347=)
c.1137G>A (p.Glu379=)
c.1188G>A (p.Glu396=)
c.1092G>A (p.Glu364=)
c.468G>A (p.Glu156=)
c.1281G>A (p.Glu427=)
c.1185G>A (p.Glu395=)
c.8370+124167C>T (n.8370+124167C>T)
2g.108897214T>ACA348048557EDAR,RANBP2c.1040A>T (p.Glu347Val)
c.1136A>T (p.Glu379Val)
c.1187A>T (p.Glu396Val)
c.1091A>T (p.Glu364Val)
c.467A>T (p.Glu156Val)
c.1280A>T (p.Glu427Val)
c.1184A>T (p.Glu395Val)
c.8370+124168T>A (n.8370+124168T>A)
2g.108897214T>CCA348048559EDAR,RANBP2c.1040A>G (p.Glu347Gly)
c.1136A>G (p.Glu379Gly)
c.1187A>G (p.Glu396Gly)
c.1091A>G (p.Glu364Gly)
c.467A>G (p.Glu156Gly)
c.1280A>G (p.Glu427Gly)
c.1184A>G (p.Glu395Gly)
c.8370+124168T>C (n.8370+124168T>C)
2g.108897214T>GCA348048562EDAR,RANBP2c.1040A>C (p.Glu347Ala)
c.1136A>C (p.Glu379Ala)
c.1187A>C (p.Glu396Ala)
c.1091A>C (p.Glu364Ala)
c.467A>C (p.Glu156Ala)
c.1280A>C (p.Glu427Ala)
c.1184A>C (p.Glu395Ala)
c.8370+124168T>G (n.8370+124168T>G)
2g.108897215C>ACA348048568EDAR,RANBP2c.1039G>T (p.Glu347Ter)
c.1135G>T (p.Glu379Ter)
c.1186G>T (p.Glu396Ter)
c.1090G>T (p.Glu364Ter)
c.466G>T (p.Glu156Ter)
c.1279G>T (p.Glu427Ter)
c.1183G>T (p.Glu395Ter)
c.8370+124169C>A (n.8370+124169C>A)
 gnomAD v4
2g.108897215C>GCA348048570EDAR,RANBP2c.1039G>C (p.Glu347Gln)
c.1135G>C (p.Glu379Gln)
c.1186G>C (p.Glu396Gln)
c.1090G>C (p.Glu364Gln)
c.466G>C (p.Glu156Gln)
c.1279G>C (p.Glu427Gln)
c.1183G>C (p.Glu395Gln)
c.8370+124169C>G (n.8370+124169C>G)
2g.108897215C>TCA348048565EDAR,RANBP2c.1039G>A (p.Glu347Lys)
c.1135G>A (p.Glu379Lys)
c.1186G>A (p.Glu396Lys)
c.1090G>A (p.Glu364Lys)
c.466G>A (p.Glu156Lys)
c.1279G>A (p.Glu427Lys)
c.1183G>A (p.Glu395Lys)
c.8370+124169C>T (n.8370+124169C>T)
2g.108897216C>ACA427910936EDAR,RANBP2c.1038G>T (p.Thr346=)
c.1134G>T (p.Thr378=)
c.1185G>T (p.Thr395=)
c.1089G>T (p.Thr363=)
c.465G>T (p.Thr155=)
c.1278G>T (p.Thr426=)
c.1182G>T (p.Thr394=)
c.8370+124170C>A (n.8370+124170C>A)
2g.108897216C=CA1278354327EDAR,RANBP2c.1038G= (p.Thr346=)
c.1134G= (p.Thr378=)
c.1185G= (p.Thr395=)
c.1089G= (p.Thr363=)
c.465G= (p.Thr155=)
c.1278G= (p.Thr426=)
c.1182G= (p.Thr394=)
c.8370+124170C= (n.8370+124170C=)
2g.108897216C>GCA427910938EDAR,RANBP2c.1038G>C (p.Thr346=)
c.1134G>C (p.Thr378=)
c.1185G>C (p.Thr395=)
c.1089G>C (p.Thr363=)
c.465G>C (p.Thr155=)
c.1278G>C (p.Thr426=)
c.1182G>C (p.Thr394=)
c.8370+124170C>G (n.8370+124170C>G)
2g.108897216C>TCA1824827EDAR,RANBP2c.1038G>A (p.Thr346=)
c.1134G>A (p.Thr378=)
c.1185G>A (p.Thr395=)
c.1089G>A (p.Thr363=)
c.465G>A (p.Thr155=)
c.1278G>A (p.Thr426=)
c.1182G>A (p.Thr394=)
c.8370+124170C>T (n.8370+124170C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897217G>ACA1824828EDAR,RANBP2c.1037C>T (p.Thr346Met)
c.1133C>T (p.Thr378Met)
c.1184C>T (p.Thr395Met)
c.1088C>T (p.Thr363Met)
c.464C>T (p.Thr155Met)
c.1277C>T (p.Thr426Met)
c.1181C>T (p.Thr394Met)
c.8370+124171G>A (n.8370+124171G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108897217G>CCA348048576EDAR,RANBP2c.1037C>G (p.Thr346Arg)
c.1133C>G (p.Thr378Arg)
c.1184C>G (p.Thr395Arg)
c.1088C>G (p.Thr363Arg)
c.464C>G (p.Thr155Arg)
c.1277C>G (p.Thr426Arg)
c.1181C>G (p.Thr394Arg)
c.8370+124171G>C (n.8370+124171G>C)
2g.108897217G=CA1278354328EDAR,RANBP2c.1037C= (p.Thr346=)
c.1133C= (p.Thr378=)
c.1184C= (p.Thr395=)
c.1088C= (p.Thr363=)
c.464C= (p.Thr155=)
c.1277C= (p.Thr426=)
c.1181C= (p.Thr394=)
c.8370+124171G= (n.8370+124171G=)
2g.108897217G>TCA348048578EDAR,RANBP2c.1037C>A (p.Thr346Lys)
c.1133C>A (p.Thr378Lys)
c.1184C>A (p.Thr395Lys)
c.1088C>A (p.Thr363Lys)
c.464C>A (p.Thr155Lys)
c.1277C>A (p.Thr426Lys)
c.1181C>A (p.Thr394Lys)
c.8370+124171G>T (n.8370+124171G>T)
 COSMIC COSMIC
2g.108897218T>ACA348048581EDAR,RANBP2c.1036A>T (p.Thr346Ser)
c.1132A>T (p.Thr378Ser)
c.1183A>T (p.Thr395Ser)
c.1087A>T (p.Thr363Ser)
c.463A>T (p.Thr155Ser)
c.1276A>T (p.Thr426Ser)
c.1180A>T (p.Thr394Ser)
c.8370+124172T>A (n.8370+124172T>A)
2g.108897218T>CCA348048584EDAR,RANBP2c.1036A>G (p.Thr346Ala)
c.1132A>G (p.Thr378Ala)
c.1183A>G (p.Thr395Ala)
c.1087A>G (p.Thr363Ala)
c.463A>G (p.Thr155Ala)
c.1276A>G (p.Thr426Ala)
c.1180A>G (p.Thr394Ala)
c.8370+124172T>C (n.8370+124172T>C)
2g.108897218T>GCA348048586EDAR,RANBP2c.1036A>C (p.Thr346Pro)
c.1132A>C (p.Thr378Pro)
c.1183A>C (p.Thr395Pro)
c.1087A>C (p.Thr363Pro)
c.463A>C (p.Thr155Pro)
c.1276A>C (p.Thr426Pro)
c.1180A>C (p.Thr394Pro)
c.8370+124172T>G (n.8370+124172T>G)
2g.108897219G>ACA427910943EDAR,RANBP2c.1035C>T (p.Pro345=)
c.1131C>T (p.Pro377=)
c.1182C>T (p.Pro394=)
c.1086C>T (p.Pro362=)
c.462C>T (p.Pro154=)
c.1275C>T (p.Pro425=)
c.1179C>T (p.Pro393=)
c.8370+124173G>A (n.8370+124173G>A)
2g.108897219G>CCA427910944EDAR,RANBP2c.1035C>G (p.Pro345=)
c.1131C>G (p.Pro377=)
c.1182C>G (p.Pro394=)
c.1086C>G (p.Pro362=)
c.462C>G (p.Pro154=)
c.1275C>G (p.Pro425=)
c.1179C>G (p.Pro393=)
c.8370+124173G>C (n.8370+124173G>C)
2g.108897219G>TCA427910946EDAR,RANBP2c.1035C>A (p.Pro345=)
c.1131C>A (p.Pro377=)
c.1182C>A (p.Pro394=)
c.1086C>A (p.Pro362=)
c.462C>A (p.Pro154=)
c.1275C>A (p.Pro425=)
c.1179C>A (p.Pro393=)
c.8370+124173G>T (n.8370+124173G>T)
2g.108897222dupCA645528582EDAR,RANBP2c.1035dup (p.Thr346HisfsTer6)
c.1131dup (p.Thr378HisfsTer6)
c.1182dup (p.Thr395HisfsTer6)
c.1086dup (p.Thr363HisfsTer6)
c.462dup (p.Thr155HisfsTer6)
c.1275dup (p.Thr426HisfsTer6)
c.1179dup (p.Thr394HisfsTer6)
c.8370+124176dup (n.8370+124176dup)
 COSMIC COSMIC
2g.108897220G>ACA348048590EDAR,RANBP2c.1034C>T (p.Pro345Leu)
c.1130C>T (p.Pro377Leu)
c.1181C>T (p.Pro394Leu)
c.1085C>T (p.Pro362Leu)
c.461C>T (p.Pro154Leu)
c.1274C>T (p.Pro425Leu)
c.1178C>T (p.Pro393Leu)
c.8370+124174G>A (n.8370+124174G>A)
2g.108897220G>CCA348048595EDAR,RANBP2c.1034C>G (p.Pro345Arg)
c.1130C>G (p.Pro377Arg)
c.1181C>G (p.Pro394Arg)
c.1085C>G (p.Pro362Arg)
c.461C>G (p.Pro154Arg)
c.1274C>G (p.Pro425Arg)
c.1178C>G (p.Pro393Arg)
c.8370+124174G>C (n.8370+124174G>C)
2g.108897220G>TCA348048593EDAR,RANBP2c.1034C>A (p.Pro345His)
c.1130C>A (p.Pro377His)
c.1181C>A (p.Pro394His)
c.1085C>A (p.Pro362His)
c.461C>A (p.Pro154His)
c.1274C>A (p.Pro425His)
c.1178C>A (p.Pro393His)
c.8370+124174G>T (n.8370+124174G>T)
2g.108897221G>ACA348048598EDAR,RANBP2c.1033C>T (p.Pro345Ser)
c.1129C>T (p.Pro377Ser)
c.1180C>T (p.Pro394Ser)
c.1084C>T (p.Pro362Ser)
c.460C>T (p.Pro154Ser)
c.1273C>T (p.Pro425Ser)
c.1177C>T (p.Pro393Ser)
c.8370+124175G>A (n.8370+124175G>A)
2g.108897221G>CCA348048600EDAR,RANBP2c.1033C>G (p.Pro345Ala)
c.1129C>G (p.Pro377Ala)
c.1180C>G (p.Pro394Ala)
c.1084C>G (p.Pro362Ala)
c.460C>G (p.Pro154Ala)
c.1273C>G (p.Pro425Ala)
c.1177C>G (p.Pro393Ala)
c.8370+124175G>C (n.8370+124175G>C)
2g.108897221G>TCA348048603EDAR,RANBP2c.1033C>A (p.Pro345Thr)
c.1129C>A (p.Pro377Thr)
c.1180C>A (p.Pro394Thr)
c.1084C>A (p.Pro362Thr)
c.460C>A (p.Pro154Thr)
c.1273C>A (p.Pro425Thr)
c.1177C>A (p.Pro393Thr)
c.8370+124175G>T (n.8370+124175G>T)
 gnomAD v4
2g.108897222G>ACA427910950EDAR,RANBP2c.1032C>T (p.Ser344=)
c.1128C>T (p.Ser376=)
c.1179C>T (p.Ser393=)
c.1083C>T (p.Ser361=)
c.459C>T (p.Ser153=)
c.1272C>T (p.Ser424=)
c.1176C>T (p.Ser392=)
c.8370+124176G>A (n.8370+124176G>A)
 gnomAD v4
2g.108897222G>CCA348048605EDAR,RANBP2c.1032C>G (p.Ser344Arg)
c.1128C>G (p.Ser376Arg)
c.1179C>G (p.Ser393Arg)
c.1083C>G (p.Ser361Arg)
c.459C>G (p.Ser153Arg)
c.1272C>G (p.Ser424Arg)
c.1176C>G (p.Ser392Arg)
c.8370+124176G>C (n.8370+124176G>C)
2g.108897222G>TCA348048607EDAR,RANBP2c.1032C>A (p.Ser344Arg)
c.1128C>A (p.Ser376Arg)
c.1179C>A (p.Ser393Arg)
c.1083C>A (p.Ser361Arg)
c.459C>A (p.Ser153Arg)
c.1272C>A (p.Ser424Arg)
c.1176C>A (p.Ser392Arg)
c.8370+124176G>T (n.8370+124176G>T)
 gnomAD v4
2g.108897223C>ACA348048610EDAR,RANBP2c.1031G>T (p.Ser344Ile)
c.1127G>T (p.Ser376Ile)
c.1178G>T (p.Ser393Ile)
c.1082G>T (p.Ser361Ile)
c.458G>T (p.Ser153Ile)
c.1271G>T (p.Ser424Ile)
c.1175G>T (p.Ser392Ile)
c.8370+124177C>A (n.8370+124177C>A)
 dbSNP
2g.108897223C>GCA348048614EDAR,RANBP2c.1031G>C (p.Ser344Thr)
c.1127G>C (p.Ser376Thr)
c.1178G>C (p.Ser393Thr)
c.1082G>C (p.Ser361Thr)
c.458G>C (p.Ser153Thr)
c.1271G>C (p.Ser424Thr)
c.1175G>C (p.Ser392Thr)
c.8370+124177C>G (n.8370+124177C>G)
2g.108897223C>TCA348048612EDAR,RANBP2c.1031G>A (p.Ser344Asn)
c.1127G>A (p.Ser376Asn)
c.1178G>A (p.Ser393Asn)
c.1082G>A (p.Ser361Asn)
c.458G>A (p.Ser153Asn)
c.1271G>A (p.Ser424Asn)
c.1175G>A (p.Ser392Asn)
c.8370+124177C>T (n.8370+124177C>T)
2g.108897224T>ACA348048617EDAR,RANBP2c.1030A>T (p.Ser344Cys)
c.1126A>T (p.Ser376Cys)
c.1177A>T (p.Ser393Cys)
c.1081A>T (p.Ser361Cys)
c.457A>T (p.Ser153Cys)
c.1270A>T (p.Ser424Cys)
c.1174A>T (p.Ser392Cys)
c.8370+124178T>A (n.8370+124178T>A)
2g.108897224T>CCA348048618EDAR,RANBP2c.1030A>G (p.Ser344Gly)
c.1126A>G (p.Ser376Gly)
c.1177A>G (p.Ser393Gly)
c.1081A>G (p.Ser361Gly)
c.457A>G (p.Ser153Gly)
c.1270A>G (p.Ser424Gly)
c.1174A>G (p.Ser392Gly)
c.8370+124178T>C (n.8370+124178T>C)
2g.108897224T>GCA348048621EDAR,RANBP2c.1030A>C (p.Ser344Arg)
c.1126A>C (p.Ser376Arg)
c.1177A>C (p.Ser393Arg)
c.1081A>C (p.Ser361Arg)
c.457A>C (p.Ser153Arg)
c.1270A>C (p.Ser424Arg)
c.1174A>C (p.Ser392Arg)
c.8370+124178T>G (n.8370+124178T>G)
2g.108897225A=CA1278354329EDAR,RANBP2c.1029T= (p.Leu343=)
c.1125T= (p.Leu375=)
c.1176T= (p.Leu392=)
c.1080T= (p.Leu360=)
c.456T= (p.Leu152=)
c.1269T= (p.Leu423=)
c.1173T= (p.Leu391=)
c.8370+124179A= (n.8370+124179A=)
2g.108897225A>CCA427910957EDAR,RANBP2c.1029T>G (p.Leu343=)
c.1125T>G (p.Leu375=)
c.1176T>G (p.Leu392=)
c.1080T>G (p.Leu360=)
c.456T>G (p.Leu152=)
c.1269T>G (p.Leu423=)
c.1173T>G (p.Leu391=)
c.8370+124179A>C (n.8370+124179A>C)
2g.108897225A>GCA53464979EDAR,RANBP2c.1029T>C (p.Leu343=)
c.1125T>C (p.Leu375=)
c.1176T>C (p.Leu392=)
c.1080T>C (p.Leu360=)
c.456T>C (p.Leu152=)
c.1269T>C (p.Leu423=)
c.1173T>C (p.Leu391=)
c.8370+124179A>G (n.8370+124179A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.108897225A>TCA427910958EDAR,RANBP2c.1029T>A (p.Leu343=)
c.1125T>A (p.Leu375=)
c.1176T>A (p.Leu392=)
c.1080T>A (p.Leu360=)
c.456T>A (p.Leu152=)
c.1269T>A (p.Leu423=)
c.1173T>A (p.Leu391=)
c.8370+124179A>T (n.8370+124179A>T)
2g.108897226A>CCA348048624EDAR,RANBP2c.1028T>G (p.Leu343Arg)
c.1124T>G (p.Leu375Arg)
c.1175T>G (p.Leu392Arg)
c.1079T>G (p.Leu360Arg)
c.455T>G (p.Leu152Arg)
c.1268T>G (p.Leu423Arg)
c.1172T>G (p.Leu391Arg)
c.8370+124180A>C (n.8370+124180A>C)
 gnomAD v4
2g.108897226A>GCA348048626EDAR,RANBP2c.1028T>C (p.Leu343Pro)
c.1124T>C (p.Leu375Pro)
c.1175T>C (p.Leu392Pro)
c.1079T>C (p.Leu360Pro)
c.455T>C (p.Leu152Pro)
c.1268T>C (p.Leu423Pro)
c.1172T>C (p.Leu391Pro)
c.8370+124180A>G (n.8370+124180A>G)
2g.108897226A>TCA348048629EDAR,RANBP2c.1028T>A (p.Leu343His)
c.1124T>A (p.Leu375His)
c.1175T>A (p.Leu392His)
c.1079T>A (p.Leu360His)
c.455T>A (p.Leu152His)
c.1268T>A (p.Leu423His)
c.1172T>A (p.Leu391His)
c.8370+124180A>T (n.8370+124180A>T)
2g.108897227G>ACA348048630EDAR,RANBP2c.1027C>T (p.Leu343Phe)
c.1123C>T (p.Leu375Phe)
c.1174C>T (p.Leu392Phe)
c.1078C>T (p.Leu360Phe)
c.454C>T (p.Leu152Phe)
c.1267C>T (p.Leu423Phe)
c.1171C>T (p.Leu391Phe)
c.8370+124181G>A (n.8370+124181G>A)
2g.108897227G>CCA348048632EDAR,RANBP2c.1027C>G (p.Leu343Val)
c.1123C>G (p.Leu375Val)
c.1174C>G (p.Leu392Val)
c.1078C>G (p.Leu360Val)
c.454C>G (p.Leu152Val)
c.1267C>G (p.Leu423Val)
c.1171C>G (p.Leu391Val)
c.8370+124181G>C (n.8370+124181G>C)
2g.108897227G>TCA348048634EDAR,RANBP2c.1027C>A (p.Leu343Ile)
c.1123C>A (p.Leu375Ile)
c.1174C>A (p.Leu392Ile)
c.1078C>A (p.Leu360Ile)
c.454C>A (p.Leu152Ile)
c.1267C>A (p.Leu423Ile)
c.1171C>A (p.Leu391Ile)
c.8370+124181G>T (n.8370+124181G>T)
 gnomAD v4
2g.108897228A>CCA427910962EDAR,RANBP2c.1026T>G (p.Gly342=)
c.1122T>G (p.Gly374=)
c.1173T>G (p.Gly391=)
c.1077T>G (p.Gly359=)
c.453T>G (p.Gly151=)
c.1266T>G (p.Gly422=)
c.1170T>G (p.Gly390=)
c.8370+124182A>C (n.8370+124182A>C)
2g.108897228A>GCA427910965EDAR,RANBP2c.1026T>C (p.Gly342=)
c.1122T>C (p.Gly374=)
c.1173T>C (p.Gly391=)
c.1077T>C (p.Gly359=)
c.453T>C (p.Gly151=)
c.1266T>C (p.Gly422=)
c.1170T>C (p.Gly390=)
c.8370+124182A>G (n.8370+124182A>G)
2g.108897228A>TCA427910964EDAR,RANBP2c.1026T>A (p.Gly342=)
c.1122T>A (p.Gly374=)
c.1173T>A (p.Gly391=)
c.1077T>A (p.Gly359=)
c.453T>A (p.Gly151=)
c.1266T>A (p.Gly422=)
c.1170T>A (p.Gly390=)
c.8370+124182A>T (n.8370+124182A>T)
2g.108897229C>ACA348048636EDAR,RANBP2c.1025G>T (p.Gly342Val)
c.1121G>T (p.Gly374Val)
c.1172G>T (p.Gly391Val)
c.1076G>T (p.Gly359Val)
c.452G>T (p.Gly151Val)
c.1265G>T (p.Gly422Val)
c.1169G>T (p.Gly390Val)
c.8370+124183C>A (n.8370+124183C>A)
2g.108897229C>GCA348048639EDAR,RANBP2c.1025G>C (p.Gly342Ala)
c.1121G>C (p.Gly374Ala)
c.1172G>C (p.Gly391Ala)
c.1076G>C (p.Gly359Ala)
c.452G>C (p.Gly151Ala)
c.1265G>C (p.Gly422Ala)
c.1169G>C (p.Gly390Ala)
c.8370+124183C>G (n.8370+124183C>G)
2g.108897229C>TCA348048642EDAR,RANBP2c.1025G>A (p.Gly342Asp)
c.1121G>A (p.Gly374Asp)
c.1172G>A (p.Gly391Asp)
c.1076G>A (p.Gly359Asp)
c.452G>A (p.Gly151Asp)
c.1265G>A (p.Gly422Asp)
c.1169G>A (p.Gly390Asp)
c.8370+124183C>T (n.8370+124183C>T)
2g.108897230C>ACA348048649EDAR,RANBP2c.1025-1G>T (n.1025-1G>T)
c.1121-1G>T (n.1121-1G>T)
c.1172-1G>T (n.1172-1G>T)
c.1076-1G>T (n.1076-1G>T)
c.452-1G>T (n.452-1G>T)
c.1265-1G>T (n.1265-1G>T)
c.1169-1G>T (n.1169-1G>T)
c.8370+124184C>A (n.8370+124184C>A)
2g.108897230C=CA1278354330EDAR,RANBP2c.1025-1G= (n.1025-1G=)
c.1121-1G= (n.1121-1G=)
c.1172-1G= (n.1172-1G=)
c.1076-1G= (n.1076-1G=)
c.452-1G= (n.452-1G=)
c.1265-1G= (n.1265-1G=)
c.1169-1G= (n.1169-1G=)
c.8370+124184C= (n.8370+124184C=)
2g.108897230C>GCA348048646EDAR,RANBP2c.1025-1G>C (n.1025-1G>C)
c.1121-1G>C (n.1121-1G>C)
c.1172-1G>C (n.1172-1G>C)
c.1076-1G>C (n.1076-1G>C)
c.452-1G>C (n.452-1G>C)
c.1265-1G>C (n.1265-1G>C)
c.1169-1G>C (n.1169-1G>C)
c.8370+124184C>G (n.8370+124184C>G)
 dbSNP gnomAD v4
2g.108897230C>TCA348048644EDAR,RANBP2c.1025-1G>A (n.1025-1G>A)
c.1121-1G>A (n.1121-1G>A)
c.1172-1G>A (n.1172-1G>A)
c.1076-1G>A (n.1076-1G>A)
c.452-1G>A (n.452-1G>A)
c.1265-1G>A (n.1265-1G>A)
c.1169-1G>A (n.1169-1G>A)
c.8370+124184C>T (n.8370+124184C>T)

Number of alleles fetched