Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108897129G>A | CA428204151 | EDAR,RANBP2 | c.1125C>T (p.Arg375=) c.1221C>T (p.Arg407=) c.1272C>T (p.Arg424=) c.1176C>T (p.Arg392=) c.552C>T (p.Arg184=) c.1365C>T (p.Arg455=) c.1269C>T (p.Arg423=) c.8370+124083G>A (n.8370+124083G>A) | |
2 | g.108897129G>C | CA428204152 | EDAR,RANBP2 | c.1125C>G (p.Arg375=) c.1221C>G (p.Arg407=) c.1272C>G (p.Arg424=) c.1176C>G (p.Arg392=) c.552C>G (p.Arg184=) c.1365C>G (p.Arg455=) c.1269C>G (p.Arg423=) c.8370+124083G>C (n.8370+124083G>C) | |
2 | g.108897129G>T | CA428204153 | EDAR,RANBP2 | c.1125C>A (p.Arg375=) c.1221C>A (p.Arg407=) c.1272C>A (p.Arg424=) c.1176C>A (p.Arg392=) c.552C>A (p.Arg184=) c.1365C>A (p.Arg455=) c.1269C>A (p.Arg423=) c.8370+124083G>T (n.8370+124083G>T) | |
2 | g.108897130C>A | CA348048172 | EDAR,RANBP2 | c.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) | |
2 | g.108897130C= | CA1278354290 | EDAR,RANBP2 | c.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=) | |
2 | g.108897130C>G | CA348048171 | EDAR,RANBP2 | c.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 |
2 | g.108897130C>T | CA253631 | EDAR,RANBP2 | c.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 |
2 | g.108897131G>A | CA1824814 | EDAR,RANBP2 | c.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 |
2 | g.108897131G>C | CA348048173 | EDAR,RANBP2 | c.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) | |
2 | g.108897131G= | CA1278354291 | EDAR,RANBP2 | c.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=) | |
2 | g.108897131G>T | CA348048174 | EDAR,RANBP2 | c.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) | |
2 | g.108897132C>A | CA348048175 | EDAR,RANBP2 | c.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) | |
2 | g.108897132C>G | CA348048176 | EDAR,RANBP2 | c.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) | |
2 | g.108897132C>T | CA348048177 | EDAR,RANBP2 | c.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) | |
2 | g.108897133C>A | CA53464866 | EDAR,RANBP2 | c.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 |
2 | g.108897133C= | CA1278354292 | EDAR,RANBP2 | c.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=) | |
2 | g.108897133C>G | CA348048178 | EDAR,RANBP2 | c.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) | |
2 | g.108897133C>T | CA10588306 | EDAR,RANBP2 | c.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 |
2 | g.108897134A>C | CA348048179 | EDAR,RANBP2 | c.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) | |
2 | g.108897134A>G | CA348048180 | EDAR,RANBP2 | c.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) | |
2 | g.108897134A>T | CA348048181 | EDAR,RANBP2 | c.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) | |
2 | g.108897135C>A | CA428204164 | EDAR,RANBP2 | c.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) | |
2 | g.108897135C= | CA1278354293 | EDAR,RANBP2 | c.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=) | |
2 | g.108897135C>G | CA428204165 | EDAR,RANBP2 | c.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 |
2 | g.108897135C>T | CA1824815 | EDAR,RANBP2 | c.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 |
2 | g.108897136G>A | CA348048182 | EDAR,RANBP2 | c.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 |
2 | g.108897136G>C | CA348048183 | EDAR,RANBP2 | c.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) | |
2 | g.108897136G= | CA1278354294 | EDAR,RANBP2 | c.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=) | |
2 | g.108897136G>T | CA348048184 | EDAR,RANBP2 | c.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) | |
2 | g.108897137T>A | CA348048185 | EDAR,RANBP2 | c.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) | |
2 | g.108897137T>C | CA348048186 | EDAR,RANBP2 | c.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) | |
2 | g.108897137T>G | CA348048187 | EDAR,RANBP2 | c.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) | |
2 | g.108897138T>A | CA348048188 | EDAR,RANBP2 | c.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) | |
2 | g.108897138T>C | CA428204170 | EDAR,RANBP2 | c.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) | |
2 | g.108897138T>G | CA348048189 | EDAR,RANBP2 | c.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) | |
2 | g.108897139T>A | CA348048190 | EDAR,RANBP2 | c.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) | |
2 | g.108897139T>C | CA348048192 | EDAR,RANBP2 | c.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) | |
2 | g.108897139T>G | CA348048191 | EDAR,RANBP2 | c.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) | |
2 | g.108897140T>A | CA348048193 | EDAR,RANBP2 | c.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) | |
2 | g.108897140T>C | CA348048194 | EDAR,RANBP2 | c.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) | |
2 | g.108897140T>G | CA348048195 | EDAR,RANBP2 | c.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 |
2 | g.108897141C>A | CA428204174 | EDAR,RANBP2 | c.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) | |
2 | g.108897141C>G | CA428204175 | EDAR,RANBP2 | c.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) | |
2 | g.108897141C>T | CA428204176 | EDAR,RANBP2 | c.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 |
2 | g.108897142A= | CA1278354295 | EDAR,RANBP2 | c.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=) | |
2 | g.108897142A>C | CA348048196 | EDAR,RANBP2 | c.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 |
2 | g.108897142A>G | CA348048197 | EDAR,RANBP2 | c.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 |
2 | g.108897142A>T | CA348048198 | EDAR,RANBP2 | c.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) | |
2 | g.108897143C>A | CA348048199 | EDAR,RANBP2 | c.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) | |
2 | g.108897143C>G | CA348048200 | EDAR,RANBP2 | c.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) | |
2 | g.108897143C>T | CA348048201 | EDAR,RANBP2 | c.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) | |
2 | g.108897144A>C | CA428204182 | EDAR,RANBP2 | c.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) | |
2 | g.108897144A>G | CA428204178 | EDAR,RANBP2 | c.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) | |
2 | g.108897144A>T | CA428204180 | EDAR,RANBP2 | c.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) | |
2 | g.108897145A= | CA1278354296 | EDAR,RANBP2 | c.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=) | |
2 | g.108897145A>C | CA348048202 | EDAR,RANBP2 | c.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 |
2 | g.108897145A>G | CA117813 | EDAR,RANBP2 | c.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 |
2 | g.108897145A>T | CA348048203 | EDAR,RANBP2 | c.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) | |
2 | g.108897146C>A | CA348048206 | EDAR,RANBP2 | c.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) | |
2 | g.108897146C= | CA1278354297 | EDAR,RANBP2 | c.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=) | |
2 | g.108897146C>G | CA348048205 | EDAR,RANBP2 | c.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 |
2 | g.108897146C>T | CA348048204 | EDAR,RANBP2 | c.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) | |
2 | g.108897147A= | CA1278354298 | EDAR,RANBP2 | c.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=) | |
2 | g.108897147A>C | CA428204187 | EDAR,RANBP2 | c.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) | |
2 | g.108897147A>G | CA428204188 | EDAR,RANBP2 | c.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 |
2 | g.108897147A>T | CA428204189 | EDAR,RANBP2 | c.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) | |
2 | g.108897148G>A | CA348048207 | EDAR,RANBP2 | c.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) | |
2 | g.108897148G>C | CA348048208 | EDAR,RANBP2 | c.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) | |
2 | g.108897148G>T | CA348048209 | EDAR,RANBP2 | c.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) | |
2 | g.108897149C>A | CA348048210 | EDAR,RANBP2 | c.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 |
2 | g.108897149C= | CA1278354299 | EDAR,RANBP2 | c.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=) | |
2 | g.108897149C>G | CA1824816 | EDAR,RANBP2 | c.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 |
2 | g.108897149C>T | CA348048212 | EDAR,RANBP2 | c.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 |
2 | g.108897150C>A | CA348048214 | EDAR,RANBP2 | c.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) | |
2 | g.108897150C= | CA1278354300 | EDAR,RANBP2 | c.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=) | |
2 | g.108897150C>G | CA348048216 | EDAR,RANBP2 | c.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) | |
2 | g.108897150C>T | CA1824817 | EDAR,RANBP2 | c.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 |
2 | g.108897151T>A | CA348048219 | EDAR,RANBP2 | c.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) | |
2 | g.108897151T>C | CA348048221 | EDAR,RANBP2 | c.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) | |
2 | g.108897151T>G | CA348048222 | EDAR,RANBP2 | c.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) | |
2 | g.108897152T>A | CA348048224 | EDAR,RANBP2 | c.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) | |
2 | g.108897152T>C | CA348048229 | EDAR,RANBP2 | c.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) | |
2 | g.108897152T>G | CA348048226 | EDAR,RANBP2 | c.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) | |
2 | g.108897153C>A | CA348048230 | EDAR,RANBP2 | c.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) | |
2 | g.108897153C>G | CA348048232 | EDAR,RANBP2 | c.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) | |
2 | g.108897153C>T | CA428204191 | EDAR,RANBP2 | c.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) | |
2 | g.108897154T>A | CA348048234 | EDAR,RANBP2 | c.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) | |
2 | g.108897154T>C | CA348048236 | EDAR,RANBP2 | c.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) | |
2 | g.108897154T>G | CA348048238 | EDAR,RANBP2 | c.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) | |
2 | g.108897155C>A | CA348048240 | EDAR,RANBP2 | c.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) | |
2 | g.108897155C= | CA1278354301 | EDAR,RANBP2 | c.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=) | |
2 | g.108897155C>G | CA348048242 | EDAR,RANBP2 | c.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) | |
2 | g.108897155C>T | CA1824818 | EDAR,RANBP2 | c.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 |
2 | g.108897156A>C | CA427910818 | EDAR,RANBP2 | c.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) | |
2 | g.108897156A>G | CA427910819 | EDAR,RANBP2 | c.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) | |
2 | g.108897156A>T | CA427910820 | EDAR,RANBP2 | c.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) | |
2 | g.108897158_108897159del | CA2580611686 | EDAR,RANBP2 | c.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 |
2 | g.108897157G>A | CA348048245 | EDAR,RANBP2 | c.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 |
2 | g.108897157G>C | CA348048248 | EDAR,RANBP2 | c.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) | |
2 | g.108897157G= | CA1278354302 | EDAR,RANBP2 | c.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=) | |
2 | g.108897157G>T | CA348048250 | EDAR,RANBP2 | c.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) | |
2 | g.108897158A>C | CA348048252 | EDAR,RANBP2 | c.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) | |
2 | g.108897158A>G | CA348048253 | EDAR,RANBP2 | c.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 |
2 | g.108897158A>T | CA348048255 | EDAR,RANBP2 | c.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) | |
2 | g.108897159G>A | CA427910823 | EDAR,RANBP2 | c.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) | |
2 | g.108897159G>C | CA348048257 | EDAR,RANBP2 | c.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 |
2 | g.108897159G= | CA1278354303 | EDAR,RANBP2 | c.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=) | |
2 | g.108897159G>T | CA348048259 | EDAR,RANBP2 | c.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) | |
2 | g.108897160T>A | CA348048260 | EDAR,RANBP2 | c.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) | |
2 | g.108897160T>C | CA348048262 | EDAR,RANBP2 | c.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 |
2 | g.108897160T>G | CA348048263 | EDAR,RANBP2 | c.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) | |
2 | g.108897160T= | CA1278354304 | EDAR,RANBP2 | c.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=) | |
2 | g.108897161T>A | CA348048265 | EDAR,RANBP2 | c.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) | |
2 | g.108897161T>C | CA348048267 | EDAR,RANBP2 | c.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) | |
2 | g.108897161T>G | CA348048269 | EDAR,RANBP2 | c.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) | |
2 | g.108897161_108897177dup | CA2832528871 | EDAR,RANBP2 | c.1077_1093dup (p.Asn365SerfsTer13) c.1173_1189dup (p.Asn397SerfsTer13) c.1224_1240dup (p.Asn414SerfsTer13) c.1128_1144dup (p.Asn382SerfsTer13) c.504_520dup (p.Asn174SerfsTer13) c.1317_1333dup (p.Asn445SerfsTer13) c.1221_1237dup (p.Asn413SerfsTer13) c.8370+124115_8370+124131dup (n.8370+124115_8370+124131dup) | |
2 | g.108897162G>A | CA427910826 | EDAR,RANBP2 | c.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) | |
2 | g.108897162G>C | CA348048273 | EDAR,RANBP2 | c.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) | |
2 | g.108897162G>T | CA348048275 | EDAR,RANBP2 | c.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) | |
2 | g.108897163T>A | CA348048278 | EDAR,RANBP2 | c.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 |
2 | g.108897163T>C | CA348048279 | EDAR,RANBP2 | c.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) | |
2 | g.108897163T>G | CA348048281 | EDAR,RANBP2 | c.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) | |
2 | g.108897163T= | CA1278354305 | EDAR,RANBP2 | c.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=) | |
2 | g.108897164A>C | CA348048285 | EDAR,RANBP2 | c.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) | |
2 | g.108897164A>G | CA348048286 | EDAR,RANBP2 | c.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 |
2 | g.108897164A>T | CA348048283 | EDAR,RANBP2 | c.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) | |
2 | g.108897164_108897165delinsAC | CA1278354306 | EDAR,RANBP2 | c.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) | |
2 | g.108897165del | CA891842936 | EDAR,RANBP2 | c.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 |
2 | g.108897165C>A | CA427910828 | EDAR,RANBP2 | c.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) | |
2 | g.108897165C= | CA1278354307 | EDAR,RANBP2 | c.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=) | |
2 | g.108897165C>G | CA427910829 | EDAR,RANBP2 | c.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) | |
2 | g.108897165C>T | CA1824819 | EDAR,RANBP2 | c.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 |
2 | g.108897165_108897166delinsCG | CA1278354308 | EDAR,RANBP2 | c.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) | |
2 | g.108897166del | CA915944092 | EDAR,RANBP2 | c.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 |
2 | g.108897166G>A | CA1824820 | EDAR,RANBP2 | c.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 |
2 | g.108897166G>C | CA348048290 | EDAR,RANBP2 | c.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) | |
2 | g.108897166G= | CA1278354309 | EDAR,RANBP2 | c.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=) | |
2 | g.108897166G>T | CA1824821 | EDAR,RANBP2 | c.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 |
2 | g.108897167T>A | CA348048293 | EDAR,RANBP2 | c.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) | |
2 | g.108897167T>C | CA348048294 | EDAR,RANBP2 | c.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) | |
2 | g.108897167T>G | CA348048296 | EDAR,RANBP2 | c.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) | |
2 | g.108897168G>A | CA427910835 | EDAR,RANBP2 | c.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 |
2 | g.108897168G>C | CA1824822 | EDAR,RANBP2 | c.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 |
2 | g.108897168G= | CA1278354310 | EDAR,RANBP2 | c.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=) | |
2 | g.108897168G>T | CA427910837 | EDAR,RANBP2 | c.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) | |
2 | g.108897169G>A | CA348048299 | EDAR,RANBP2 | c.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 |
2 | g.108897169G>C | CA348048301 | EDAR,RANBP2 | c.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) | |
2 | g.108897169G= | CA1278354311 | EDAR,RANBP2 | c.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=) | |
2 | g.108897169G>T | CA348048303 | EDAR,RANBP2 | c.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) | |
2 | g.108897170A>C | CA348048306 | EDAR,RANBP2 | c.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) | |
2 | g.108897170A>G | CA348048307 | EDAR,RANBP2 | c.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) | |
2 | g.108897170A>T | CA348048305 | EDAR,RANBP2 | c.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) | |
2 | g.108897171G>A | CA427910838 | EDAR,RANBP2 | c.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 |
2 | g.108897171G>C | CA348048308 | EDAR,RANBP2 | c.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) | |
2 | g.108897171G>T | CA348048309 | EDAR,RANBP2 | c.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) | |
2 | g.108897172del | CA2586969742 | EDAR,RANBP2 | c.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) | |
2 | g.108897172C>A | CA348048311 | EDAR,RANBP2 | c.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) | |
2 | g.108897172C>G | CA348048314 | EDAR,RANBP2 | c.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) | |
2 | g.108897172C>T | CA348048315 | EDAR,RANBP2 | c.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) | |
2 | g.108897173T>A | CA348048323 | EDAR,RANBP2 | c.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) | |
2 | g.108897173T>C | CA348048318 | EDAR,RANBP2 | c.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) | |
2 | g.108897173T>G | CA348048321 | EDAR,RANBP2 | c.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) | |
2 | g.108897174G>A | CA427910842 | EDAR,RANBP2 | c.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 |
2 | g.108897174G>C | CA427910843 | EDAR,RANBP2 | c.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) | |
2 | g.108897174G= | CA1278354312 | EDAR,RANBP2 | c.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=) | |
2 | g.108897174G>T | CA427910844 | EDAR,RANBP2 | c.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) | |
2 | g.108897175A>C | CA348048325 | EDAR,RANBP2 | c.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) | |
2 | g.108897175A>G | CA348048327 | EDAR,RANBP2 | c.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) | |
2 | g.108897175A>T | CA348048330 | EDAR,RANBP2 | c.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) | |
2 | g.108897176G>A | CA348048332 | EDAR,RANBP2 | c.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) | |
2 | g.108897176G>C | CA348048335 | EDAR,RANBP2 | c.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 |
2 | g.108897176G>T | CA348048338 | EDAR,RANBP2 | c.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 |
2 | g.108897177C>A | CA348048344 | EDAR,RANBP2 | c.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 |
2 | g.108897177C>G | CA348048346 | EDAR,RANBP2 | c.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) | |
2 | g.108897177C>T | CA348048342 | EDAR,RANBP2 | c.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) | |
2 | g.108897178A>C | CA348048356 | EDAR,RANBP2 | c.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) | |
2 | g.108897178A>G | CA348048352 | EDAR,RANBP2 | c.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) | |
2 | g.108897178A>T | CA348048353 | EDAR,RANBP2 | c.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) | |
2 | g.108897179T>A | CA348048359 | EDAR,RANBP2 | c.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) | |
2 | g.108897179T>C | CA348048361 | EDAR,RANBP2 | c.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) | |
2 | g.108897179T>G | CA348048362 | EDAR,RANBP2 | c.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) | |
2 | g.108897180T>A | CA427910850 | EDAR,RANBP2 | c.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 |
2 | g.108897180T>C | CA427910851 | EDAR,RANBP2 | c.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) | |
2 | g.108897180T>G | CA427910853 | EDAR,RANBP2 | c.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) | |
2 | g.108897180T= | CA1278354313 | EDAR,RANBP2 | c.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=) | |
2 | g.108897181C>A | CA348048365 | EDAR,RANBP2 | c.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) | |
2 | g.108897181C= | CA1278354314 | EDAR,RANBP2 | c.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=) | |
2 | g.108897181C>G | CA348048366 | EDAR,RANBP2 | c.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) | |
2 | g.108897181C>T | CA10588307 | EDAR,RANBP2 | c.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 |
2 | g.108897182G>A | CA117808 | EDAR,RANBP2 | c.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 |
2 | g.108897182G>C | CA348048372 | EDAR,RANBP2 | c.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) | |
2 | g.108897182G= | CA1278354315 | EDAR,RANBP2 | c.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=) | |
2 | g.108897182G>T | CA427910856 | EDAR,RANBP2 | c.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) | |
2 | g.108897183G>A | CA427910857 | EDAR,RANBP2 | c.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 |
2 | g.108897183G>C | CA348048374 | EDAR,RANBP2 | c.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) | |
2 | g.108897183G= | CA1278354316 | EDAR,RANBP2 | c.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=) | |
2 | g.108897183G>T | CA348048376 | EDAR,RANBP2 | c.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 |
2 | g.108897184C>A | CA348048380 | EDAR,RANBP2 | c.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) | |
2 | g.108897184C>G | CA348048383 | EDAR,RANBP2 | c.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) | |
2 | g.108897184C>T | CA348048385 | EDAR,RANBP2 | c.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) | |
2 | g.108897185T>A | CA348048389 | EDAR,RANBP2 | c.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) | |
2 | g.108897185T>C | CA348048393 | EDAR,RANBP2 | c.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 |
2 | g.108897185T>G | CA348048391 | EDAR,RANBP2 | c.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) | |
2 | g.108897185T= | CA1278354317 | EDAR,RANBP2 | c.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=) | |
2 | g.108897186A= | CA1278354318 | EDAR,RANBP2 | c.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=) | |
2 | g.108897186A>C | CA427910861 | EDAR,RANBP2 | c.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) | |
2 | g.108897186A>G | CA53464911 | EDAR,RANBP2 | c.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 |
2 | g.108897186A>T | CA427910862 | EDAR,RANBP2 | c.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 |
2 | g.108897187G>A | CA348048395 | EDAR,RANBP2 | c.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) | |
2 | g.108897187G>C | CA348048397 | EDAR,RANBP2 | c.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) | |
2 | g.108897187G>T | CA348048399 | EDAR,RANBP2 | c.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) | |
2 | g.108897187_108897190delinsGTCT | CA1278354319 | EDAR,RANBP2 | c.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) | |
2 | g.108897188T>A | CA348048400 | EDAR,RANBP2 | c.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) | |
2 | g.108897188T>C | CA348048402 | EDAR,RANBP2 | c.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) | |
2 | g.108897188T>G | CA348048403 | EDAR,RANBP2 | c.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) | |
2 | g.108897191_108897193del | CA915944093 | EDAR,RANBP2 | c.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 |
2 | g.108897189C>A | CA348048406 | EDAR,RANBP2 | c.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) | |
2 | g.108897189C>G | CA348048409 | EDAR,RANBP2 | c.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) | |
2 | g.108897189C>T | CA427910865 | EDAR,RANBP2 | c.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 |
2 | g.108897190T>A | CA348048411 | EDAR,RANBP2 | c.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) | |
2 | g.108897190T>C | CA1824823 | EDAR,RANBP2 | c.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 |
2 | g.108897190T>G | CA348048414 | EDAR,RANBP2 | c.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) | |
2 | g.108897190T= | CA1278354320 | EDAR,RANBP2 | c.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=) | |
2 | g.108897191T>A | CA348048418 | EDAR,RANBP2 | c.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) | |
2 | g.108897191T>C | CA348048421 | EDAR,RANBP2 | c.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) | |
2 | g.108897191T>G | CA348048419 | EDAR,RANBP2 | c.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) | |
2 | g.108897192C>A | CA1824824 | EDAR,RANBP2 | c.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 |
2 | g.108897192C= | CA1278354321 | EDAR,RANBP2 | c.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=) | |
2 | g.108897192C>G | CA348048434 | EDAR,RANBP2 | c.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) | |
2 | g.108897192C>T | CA427910870 | EDAR,RANBP2 | c.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) | |
2 | g.108897193T>A | CA348048436 | EDAR,RANBP2 | c.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) | |
2 | g.108897193T>C | CA348048439 | EDAR,RANBP2 | c.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) | |
2 | g.108897193T>G | CA348048442 | EDAR,RANBP2 | c.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) | |
2 | g.108897194C>A | CA117811 | EDAR,RANBP2 | c.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 |
2 | g.108897194C= | CA1278354322 | EDAR,RANBP2 | c.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=) | |
2 | g.108897194C>G | CA348048446 | EDAR,RANBP2 | c.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) | |
2 | g.108897194C>T | CA348048449 | EDAR,RANBP2 | c.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 |
2 | g.108897195G>A | CA1824825 | EDAR,RANBP2 | c.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 |
2 | g.108897195G>C | CA427910877 | EDAR,RANBP2 | c.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 |
2 | g.108897195G= | CA1278354323 | EDAR,RANBP2 | c.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=) | |
2 | g.108897195G>T | CA427910878 | EDAR,RANBP2 | c.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 |
2 | g.108897195dup | CA2842779008 | EDAR,RANBP2 | c.1059dup (p.Glu354ArgfsTer4) c.1155dup (p.Glu386ArgfsTer4) c.1206dup (p.Glu403ArgfsTer4) c.1110dup (p.Glu371ArgfsTer4) c.486dup (p.Glu163ArgfsTer4) c.1299dup (p.Glu434ArgfsTer4) c.1203dup (p.Glu402ArgfsTer4) c.8370+124149dup (n.8370+124149dup) | |
2 | g.108897196A>C | CA348048454 | EDAR,RANBP2 | c.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) | |
2 | g.108897196A>G | CA348048457 | EDAR,RANBP2 | c.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) | |
2 | g.108897196A>T | CA348048459 | EDAR,RANBP2 | c.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) | |
2 | g.108897197G>A | CA348048469 | EDAR,RANBP2 | c.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 |
2 | g.108897197G>C | CA348048463 | EDAR,RANBP2 | c.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) | |
2 | g.108897197G>T | CA348048466 | EDAR,RANBP2 | c.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) | |
2 | g.108897198G>A | CA210913 | EDAR,RANBP2 | c.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 |
2 | g.108897198G>C | CA348048474 | EDAR,RANBP2 | c.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 |
2 | g.108897198G= | CA1278354324 | EDAR,RANBP2 | c.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=) | |
2 | g.108897198G>T | CA348048477 | EDAR,RANBP2 | c.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 |
2 | g.108897199C>A | CA348048479 | EDAR,RANBP2 | c.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) | |
2 | g.108897199C>G | CA348048480 | EDAR,RANBP2 | c.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) | |
2 | g.108897199C>T | CA348048481 | EDAR,RANBP2 | c.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) | |
2 | g.108897202_108897205del | CA2586969743 | EDAR,RANBP2 | c.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) | |
2 | g.108897200A>C | CA348048482 | EDAR,RANBP2 | c.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) | |
2 | g.108897200A>G | CA348048483 | EDAR,RANBP2 | c.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) | |
2 | g.108897200A>T | CA348048484 | EDAR,RANBP2 | c.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) | |
2 | g.108897201A>C | CA348048485 | EDAR,RANBP2 | c.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) | |
2 | g.108897201A>G | CA427910890 | EDAR,RANBP2 | c.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) | |
2 | g.108897201A>T | CA348048486 | EDAR,RANBP2 | c.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) | |
2 | g.108897202T>A | CA348048492 | EDAR,RANBP2 | c.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) | |
2 | g.108897202T>C | CA348048494 | EDAR,RANBP2 | c.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) | |
2 | g.108897202T>G | CA348048488 | EDAR,RANBP2 | c.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) | |
2 | g.108897203C>A | CA348048501 | EDAR,RANBP2 | c.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 |
2 | g.108897203C= | CA1278354325 | EDAR,RANBP2 | c.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=) | |
2 | g.108897203C>G | CA348048496 | EDAR,RANBP2 | c.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) | |
2 | g.108897203C>T | CA348048499 | EDAR,RANBP2 | c.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) | |
2 | g.108897204A>C | CA348048503 | EDAR,RANBP2 | c.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) | |
2 | g.108897204A>G | CA427910895 | EDAR,RANBP2 | c.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) | |
2 | g.108897204A>T | CA348048505 | EDAR,RANBP2 | c.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) | |
2 | g.108897205A>C | CA348048507 | EDAR,RANBP2 | c.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) | |
2 | g.108897205A>G | CA348048510 | EDAR,RANBP2 | c.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) | |
2 | g.108897205A>T | CA348048512 | EDAR,RANBP2 | c.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) | |
2 | g.108897206A>C | CA348048514 | EDAR,RANBP2 | c.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 |
2 | g.108897206A>G | CA348048516 | EDAR,RANBP2 | c.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) | |
2 | g.108897206A>T | CA348048518 | EDAR,RANBP2 | c.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) | |
2 | g.108897207T>A | CA427910904 | EDAR,RANBP2 | c.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) | |
2 | g.108897207T>C | CA1824826 | EDAR,RANBP2 | c.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 |
2 | g.108897207T>G | CA427910906 | EDAR,RANBP2 | c.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) | |
2 | g.108897207T= | CA1278354326 | EDAR,RANBP2 | c.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=) | |
2 | g.108897208G>A | CA348048528 | EDAR,RANBP2 | c.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 |
2 | g.108897208G>C | CA348048526 | EDAR,RANBP2 | c.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) | |
2 | g.108897208G>T | CA348048523 | EDAR,RANBP2 | c.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 |
2 | g.108897209G>A | CA348048532 | EDAR,RANBP2 | c.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) | |
2 | g.108897209G>C | CA348048533 | EDAR,RANBP2 | c.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) | |
2 | g.108897209G>T | CA348048536 | EDAR,RANBP2 | c.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) | |
2 | g.108897210C>A | CA427910912 | EDAR,RANBP2 | c.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) | |
2 | g.108897210C>G | CA427910913 | EDAR,RANBP2 | c.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) | |
2 | g.108897210C>T | CA427910915 | EDAR,RANBP2 | c.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 |
2 | g.108897211A>C | CA348048539 | EDAR,RANBP2 | c.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) | |
2 | g.108897211A>G | CA348048542 | EDAR,RANBP2 | c.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) | |
2 | g.108897211A>T | CA348048545 | EDAR,RANBP2 | c.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) | |
2 | g.108897212G>A | CA427910920 | EDAR,RANBP2 | c.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) | |
2 | g.108897212G>C | CA348048548 | EDAR,RANBP2 | c.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) | |
2 | g.108897212G>T | CA348048549 | EDAR,RANBP2 | c.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) | |
2 | g.108897213del | CA2586969744 | EDAR,RANBP2 | c.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) | |
2 | g.108897213C>A | CA348048552 | EDAR,RANBP2 | c.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 |
2 | g.108897213C>G | CA348048555 | EDAR,RANBP2 | c.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) | |
2 | g.108897213C>T | CA427910925 | EDAR,RANBP2 | c.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) | |
2 | g.108897214T>A | CA348048557 | EDAR,RANBP2 | c.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) | |
2 | g.108897214T>C | CA348048559 | EDAR,RANBP2 | c.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) | |
2 | g.108897214T>G | CA348048562 | EDAR,RANBP2 | c.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) | |
2 | g.108897215C>A | CA348048568 | EDAR,RANBP2 | c.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 |
2 | g.108897215C>G | CA348048570 | EDAR,RANBP2 | c.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) | |
2 | g.108897215C>T | CA348048565 | EDAR,RANBP2 | c.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) | |
2 | g.108897216C>A | CA427910936 | EDAR,RANBP2 | c.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) | |
2 | g.108897216C= | CA1278354327 | EDAR,RANBP2 | c.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=) | |
2 | g.108897216C>G | CA427910938 | EDAR,RANBP2 | c.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) | |
2 | g.108897216C>T | CA1824827 | EDAR,RANBP2 | c.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 |
2 | g.108897217G>A | CA1824828 | EDAR,RANBP2 | c.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 |
2 | g.108897217G>C | CA348048576 | EDAR,RANBP2 | c.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) | |
2 | g.108897217G= | CA1278354328 | EDAR,RANBP2 | c.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=) | |
2 | g.108897217G>T | CA348048578 | EDAR,RANBP2 | c.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 |
2 | g.108897218T>A | CA348048581 | EDAR,RANBP2 | c.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) | |
2 | g.108897218T>C | CA348048584 | EDAR,RANBP2 | c.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) | |
2 | g.108897218T>G | CA348048586 | EDAR,RANBP2 | c.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) | |
2 | g.108897219G>A | CA427910943 | EDAR,RANBP2 | c.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) | |
2 | g.108897219G>C | CA427910944 | EDAR,RANBP2 | c.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) | |
2 | g.108897219G>T | CA427910946 | EDAR,RANBP2 | c.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) | |
2 | g.108897222dup | CA645528582 | EDAR,RANBP2 | c.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 |
2 | g.108897220G>A | CA348048590 | EDAR,RANBP2 | c.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) | |
2 | g.108897220G>C | CA348048595 | EDAR,RANBP2 | c.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) | |
2 | g.108897220G>T | CA348048593 | EDAR,RANBP2 | c.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) | |
2 | g.108897221G>A | CA348048598 | EDAR,RANBP2 | c.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) | |
2 | g.108897221G>C | CA348048600 | EDAR,RANBP2 | c.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) | |
2 | g.108897221G>T | CA348048603 | EDAR,RANBP2 | c.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 |
2 | g.108897222G>A | CA427910950 | EDAR,RANBP2 | c.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 |
2 | g.108897222G>C | CA348048605 | EDAR,RANBP2 | c.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) | |
2 | g.108897222G>T | CA348048607 | EDAR,RANBP2 | c.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 |
2 | g.108897223C>A | CA348048610 | EDAR,RANBP2 | c.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 |
2 | g.108897223C>G | CA348048614 | EDAR,RANBP2 | c.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) | |
2 | g.108897223C>T | CA348048612 | EDAR,RANBP2 | c.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) | |
2 | g.108897224T>A | CA348048617 | EDAR,RANBP2 | c.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) | |
2 | g.108897224T>C | CA348048618 | EDAR,RANBP2 | c.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) | |
2 | g.108897224T>G | CA348048621 | EDAR,RANBP2 | c.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) | |
2 | g.108897225A= | CA1278354329 | EDAR,RANBP2 | c.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=) | |
2 | g.108897225A>C | CA427910957 | EDAR,RANBP2 | c.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) | |
2 | g.108897225A>G | CA53464979 | EDAR,RANBP2 | c.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 |
2 | g.108897225A>T | CA427910958 | EDAR,RANBP2 | c.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) | |
2 | g.108897226A>C | CA348048624 | EDAR,RANBP2 | c.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 |
2 | g.108897226A>G | CA348048626 | EDAR,RANBP2 | c.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) | |
2 | g.108897226A>T | CA348048629 | EDAR,RANBP2 | c.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) | |
2 | g.108897227G>A | CA348048630 | EDAR,RANBP2 | c.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) | |
2 | g.108897227G>C | CA348048632 | EDAR,RANBP2 | c.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) | |
2 | g.108897227G>T | CA348048634 | EDAR,RANBP2 | c.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 |
2 | g.108897228A>C | CA427910962 | EDAR,RANBP2 | c.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) | |
2 | g.108897228A>G | CA427910965 | EDAR,RANBP2 | c.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) | |
2 | g.108897228A>T | CA427910964 | EDAR,RANBP2 | c.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) | |
2 | g.108897229C>A | CA348048636 | EDAR,RANBP2 | c.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) | |
2 | g.108897229C>G | CA348048639 | EDAR,RANBP2 | c.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) | |
2 | g.108897229C>T | CA348048642 | EDAR,RANBP2 | c.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) |