| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |