| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897110C>A | CA348048128 | EDAR,RANBP2 | c.1144G>T (p.Gly382Cys) c.1240G>T (p.Gly414Cys) c.1291G>T (p.Gly431Cys) c.1195G>T (p.Gly399Cys) c.571G>T (p.Gly191Cys) c.1384G>T (p.Gly462Cys) c.1288G>T (p.Gly430Cys) c.8370+124064C>A (n.8370+124064C>A) | |
| 2 | g.108897110C= | CA1278354277 | EDAR,RANBP2 | c.1144G= (p.Gly382=) c.1240G= (p.Gly414=) c.1291G= (p.Gly431=) c.1195G= (p.Gly399=) c.571G= (p.Gly191=) c.1384G= (p.Gly462=) c.1288G= (p.Gly430=) c.8370+124064C= (n.8370+124064C=) | |
| 2 | g.108897110C>G | CA348048127 | EDAR,RANBP2 | c.1144G>C (p.Gly382Arg) c.1240G>C (p.Gly414Arg) c.1291G>C (p.Gly431Arg) c.1195G>C (p.Gly399Arg) c.571G>C (p.Gly191Arg) c.1384G>C (p.Gly462Arg) c.1288G>C (p.Gly430Arg) c.8370+124064C>G (n.8370+124064C>G) | |
| 2 | g.108897110C>T | CA274979 | EDAR,RANBP2 | c.1144G>A (p.Gly382Ser) c.1240G>A (p.Gly414Ser) c.1291G>A (p.Gly431Ser) c.1195G>A (p.Gly399Ser) c.571G>A (p.Gly191Ser) c.1384G>A (p.Gly462Ser) c.1288G>A (p.Gly430Ser) c.8370+124064C>T (n.8370+124064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897111G>A | CA1824809 | EDAR,RANBP2 | c.1143C>T (p.Phe381=) c.1239C>T (p.Phe413=) c.1290C>T (p.Phe430=) c.1194C>T (p.Phe398=) c.570C>T (p.Phe190=) c.1383C>T (p.Phe461=) c.1287C>T (p.Phe429=) c.8370+124065G>A (n.8370+124065G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897111G>C | CA348048129 | EDAR,RANBP2 | c.1143C>G (p.Phe381Leu) c.1239C>G (p.Phe413Leu) c.1290C>G (p.Phe430Leu) c.1194C>G (p.Phe398Leu) c.570C>G (p.Phe190Leu) c.1383C>G (p.Phe461Leu) c.1287C>G (p.Phe429Leu) c.8370+124065G>C (n.8370+124065G>C) | |
| 2 | g.108897111G= | CA1278354278 | EDAR,RANBP2 | c.1143C= (p.Phe381=) c.1239C= (p.Phe413=) c.1290C= (p.Phe430=) c.1194C= (p.Phe398=) c.570C= (p.Phe190=) c.1383C= (p.Phe461=) c.1287C= (p.Phe429=) c.8370+124065G= (n.8370+124065G=) | |
| 2 | g.108897111G>T | CA348048130 | EDAR,RANBP2 | c.1143C>A (p.Phe381Leu) c.1239C>A (p.Phe413Leu) c.1290C>A (p.Phe430Leu) c.1194C>A (p.Phe398Leu) c.570C>A (p.Phe190Leu) c.1383C>A (p.Phe461Leu) c.1287C>A (p.Phe429Leu) c.8370+124065G>T (n.8370+124065G>T) | |
| 2 | g.108897112A= | CA1278354279 | EDAR,RANBP2 | c.1142T= (p.Phe381=) c.1238T= (p.Phe413=) c.1289T= (p.Phe430=) c.1193T= (p.Phe398=) c.569T= (p.Phe190=) c.1382T= (p.Phe461=) c.1286T= (p.Phe429=) c.8370+124066A= (n.8370+124066A=) | |
| 2 | g.108897112A>C | CA348048131 | EDAR,RANBP2 | c.1142T>G (p.Phe381Cys) c.1238T>G (p.Phe413Cys) c.1289T>G (p.Phe430Cys) c.1193T>G (p.Phe398Cys) c.569T>G (p.Phe190Cys) c.1382T>G (p.Phe461Cys) c.1286T>G (p.Phe429Cys) c.8370+124066A>C (n.8370+124066A>C) | |
| 2 | g.108897112A>G | CA348048132 | EDAR,RANBP2 | c.1142T>C (p.Phe381Ser) c.1238T>C (p.Phe413Ser) c.1289T>C (p.Phe430Ser) c.1193T>C (p.Phe398Ser) c.569T>C (p.Phe190Ser) c.1382T>C (p.Phe461Ser) c.1286T>C (p.Phe429Ser) c.8370+124066A>G (n.8370+124066A>G) | ClinVar dbSNP |
| 2 | g.108897112A>T | CA348048133 | EDAR,RANBP2 | c.1142T>A (p.Phe381Tyr) c.1238T>A (p.Phe413Tyr) c.1289T>A (p.Phe430Tyr) c.1193T>A (p.Phe398Tyr) c.569T>A (p.Phe190Tyr) c.1382T>A (p.Phe461Tyr) c.1286T>A (p.Phe429Tyr) c.8370+124066A>T (n.8370+124066A>T) | |
| 2 | g.108897113A>C | CA348048134 | EDAR,RANBP2 | c.1141T>G (p.Phe381Val) c.1237T>G (p.Phe413Val) c.1288T>G (p.Phe430Val) c.1192T>G (p.Phe398Val) c.568T>G (p.Phe190Val) c.1381T>G (p.Phe461Val) c.1285T>G (p.Phe429Val) c.8370+124067A>C (n.8370+124067A>C) | |
| 2 | g.108897113A>G | CA348048135 | EDAR,RANBP2 | c.1141T>C (p.Phe381Leu) c.1237T>C (p.Phe413Leu) c.1288T>C (p.Phe430Leu) c.1192T>C (p.Phe398Leu) c.568T>C (p.Phe190Leu) c.1381T>C (p.Phe461Leu) c.1285T>C (p.Phe429Leu) c.8370+124067A>G (n.8370+124067A>G) | |
| 2 | g.108897113A>T | CA348048136 | EDAR,RANBP2 | c.1141T>A (p.Phe381Ile) c.1237T>A (p.Phe413Ile) c.1288T>A (p.Phe430Ile) c.1192T>A (p.Phe398Ile) c.568T>A (p.Phe190Ile) c.1381T>A (p.Phe461Ile) c.1285T>A (p.Phe429Ile) c.8370+124067A>T (n.8370+124067A>T) | |
| 2 | g.108897114G>A | CA1824810 | EDAR,RANBP2 | c.1140C>T (p.Ser380=) c.1236C>T (p.Ser412=) c.1287C>T (p.Ser429=) c.1191C>T (p.Ser397=) c.567C>T (p.Ser189=) c.1380C>T (p.Ser460=) c.1284C>T (p.Ser428=) c.8370+124068G>A (n.8370+124068G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897114G>C | CA348048137 | EDAR,RANBP2 | c.1140C>G (p.Ser380Arg) c.1236C>G (p.Ser412Arg) c.1287C>G (p.Ser429Arg) c.1191C>G (p.Ser397Arg) c.567C>G (p.Ser189Arg) c.1380C>G (p.Ser460Arg) c.1284C>G (p.Ser428Arg) c.8370+124068G>C (n.8370+124068G>C) | |
| 2 | g.108897114G= | CA1278354280 | EDAR,RANBP2 | c.1140C= (p.Ser380=) c.1236C= (p.Ser412=) c.1287C= (p.Ser429=) c.1191C= (p.Ser397=) c.567C= (p.Ser189=) c.1380C= (p.Ser460=) c.1284C= (p.Ser428=) c.8370+124068G= (n.8370+124068G=) | |
| 2 | g.108897114G>T | CA348048138 | EDAR,RANBP2 | c.1140C>A (p.Ser380Arg) c.1236C>A (p.Ser412Arg) c.1287C>A (p.Ser429Arg) c.1191C>A (p.Ser397Arg) c.567C>A (p.Ser189Arg) c.1380C>A (p.Ser460Arg) c.1284C>A (p.Ser428Arg) c.8370+124068G>T (n.8370+124068G>T) | gnomAD v4 |
| 2 | g.108897115C>A | CA348048140 | EDAR,RANBP2 | c.1139G>T (p.Ser380Ile) c.1235G>T (p.Ser412Ile) c.1286G>T (p.Ser429Ile) c.1190G>T (p.Ser397Ile) c.566G>T (p.Ser189Ile) c.1379G>T (p.Ser460Ile) c.1283G>T (p.Ser428Ile) c.8370+124069C>A (n.8370+124069C>A) | |
| 2 | g.108897115C= | CA1278354281 | EDAR,RANBP2 | c.1139G= (p.Ser380=) c.1235G= (p.Ser412=) c.1286G= (p.Ser429=) c.1190G= (p.Ser397=) c.566G= (p.Ser189=) c.1379G= (p.Ser460=) c.1283G= (p.Ser428=) c.8370+124069C= (n.8370+124069C=) | |
| 2 | g.108897115C>G | CA348048141 | EDAR,RANBP2 | c.1139G>C (p.Ser380Thr) c.1235G>C (p.Ser412Thr) c.1286G>C (p.Ser429Thr) c.1190G>C (p.Ser397Thr) c.566G>C (p.Ser189Thr) c.1379G>C (p.Ser460Thr) c.1283G>C (p.Ser428Thr) c.8370+124069C>G (n.8370+124069C>G) | |
| 2 | g.108897115C>T | CA348048139 | EDAR,RANBP2 | c.1139G>A (p.Ser380Asn) c.1235G>A (p.Ser412Asn) c.1286G>A (p.Ser429Asn) c.1190G>A (p.Ser397Asn) c.566G>A (p.Ser189Asn) c.1379G>A (p.Ser460Asn) c.1283G>A (p.Ser428Asn) c.8370+124069C>T (n.8370+124069C>T) | dbSNP gnomAD v4 |
| 2 | g.108897118_108897119del | CA2660593629 | EDAR,RANBP2 | c.1138_1139del (p.Ser380LeufsTer7) c.1234_1235del (p.Ser412LeufsTer7) c.1285_1286del (p.Ser429LeufsTer7) c.1189_1190del (p.Ser397LeufsTer7) c.565_566del (p.Ser189LeufsTer7) c.1378_1379del (p.Ser460LeufsTer7) c.1282_1283del (p.Ser428LeufsTer7) c.8370+124072_8370+124073del (n.8370+124072_8370+124073del) | gnomAD v4 |
| 2 | g.108897116T>A | CA348048142 | EDAR,RANBP2 | c.1138A>T (p.Ser380Cys) c.1234A>T (p.Ser412Cys) c.1285A>T (p.Ser429Cys) c.1189A>T (p.Ser397Cys) c.565A>T (p.Ser189Cys) c.1378A>T (p.Ser460Cys) c.1282A>T (p.Ser428Cys) c.8370+124070T>A (n.8370+124070T>A) | |
| 2 | g.108897116T>C | CA348048143 | EDAR,RANBP2 | c.1138A>G (p.Ser380Gly) c.1234A>G (p.Ser412Gly) c.1285A>G (p.Ser429Gly) c.1189A>G (p.Ser397Gly) c.565A>G (p.Ser189Gly) c.1378A>G (p.Ser460Gly) c.1282A>G (p.Ser428Gly) c.8370+124070T>C (n.8370+124070T>C) | |
| 2 | g.108897116T>G | CA1824811 | EDAR,RANBP2 | c.1138A>C (p.Ser380Arg) c.1234A>C (p.Ser412Arg) c.1285A>C (p.Ser429Arg) c.1189A>C (p.Ser397Arg) c.565A>C (p.Ser189Arg) c.1378A>C (p.Ser460Arg) c.1282A>C (p.Ser428Arg) c.8370+124070T>G (n.8370+124070T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897116T= | CA1278354282 | EDAR,RANBP2 | c.1138A= (p.Ser380=) c.1234A= (p.Ser412=) c.1285A= (p.Ser429=) c.1189A= (p.Ser397=) c.565A= (p.Ser189=) c.1378A= (p.Ser460=) c.1282A= (p.Ser428=) c.8370+124070T= (n.8370+124070T=) | |
| 2 | g.108897117C>A | CA348048144 | EDAR,RANBP2 | c.1137G>T (p.Glu379Asp) c.1233G>T (p.Glu411Asp) c.1284G>T (p.Glu428Asp) c.1188G>T (p.Glu396Asp) c.564G>T (p.Glu188Asp) c.1377G>T (p.Glu459Asp) c.1281G>T (p.Glu427Asp) c.8370+124071C>A (n.8370+124071C>A) | dbSNP gnomAD v4 |
| 2 | g.108897117C= | CA1278354283 | EDAR,RANBP2 | c.1137G= (p.Glu379=) c.1233G= (p.Glu411=) c.1284G= (p.Glu428=) c.1188G= (p.Glu396=) c.564G= (p.Glu188=) c.1377G= (p.Glu459=) c.1281G= (p.Glu427=) c.8370+124071C= (n.8370+124071C=) | |
| 2 | g.108897117C>G | CA348048145 | EDAR,RANBP2 | c.1137G>C (p.Glu379Asp) c.1233G>C (p.Glu411Asp) c.1284G>C (p.Glu428Asp) c.1188G>C (p.Glu396Asp) c.564G>C (p.Glu188Asp) c.1377G>C (p.Glu459Asp) c.1281G>C (p.Glu427Asp) c.8370+124071C>G (n.8370+124071C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108897117C>T | CA428204143 | EDAR,RANBP2 | c.1137G>A (p.Glu379=) c.1233G>A (p.Glu411=) c.1284G>A (p.Glu428=) c.1188G>A (p.Glu396=) c.564G>A (p.Glu188=) c.1377G>A (p.Glu459=) c.1281G>A (p.Glu427=) c.8370+124071C>T (n.8370+124071C>T) | |
| 2 | g.108897118T>A | CA348048148 | EDAR,RANBP2 | c.1136A>T (p.Glu379Val) c.1232A>T (p.Glu411Val) c.1283A>T (p.Glu428Val) c.1187A>T (p.Glu396Val) c.563A>T (p.Glu188Val) c.1376A>T (p.Glu459Val) c.1280A>T (p.Glu427Val) c.8370+124072T>A (n.8370+124072T>A) | |
| 2 | g.108897118T>C | CA348048146 | EDAR,RANBP2 | c.1136A>G (p.Glu379Gly) c.1232A>G (p.Glu411Gly) c.1283A>G (p.Glu428Gly) c.1187A>G (p.Glu396Gly) c.563A>G (p.Glu188Gly) c.1376A>G (p.Glu459Gly) c.1280A>G (p.Glu427Gly) c.8370+124072T>C (n.8370+124072T>C) | |
| 2 | g.108897118T>G | CA348048147 | EDAR,RANBP2 | c.1136A>C (p.Glu379Ala) c.1232A>C (p.Glu411Ala) c.1283A>C (p.Glu428Ala) c.1187A>C (p.Glu396Ala) c.563A>C (p.Glu188Ala) c.1376A>C (p.Glu459Ala) c.1280A>C (p.Glu427Ala) c.8370+124072T>G (n.8370+124072T>G) | |
| 2 | g.108897119C>A | CA348048149 | EDAR,RANBP2 | c.1135G>T (p.Glu379Ter) c.1231G>T (p.Glu411Ter) c.1282G>T (p.Glu428Ter) c.1186G>T (p.Glu396Ter) c.562G>T (p.Glu188Ter) c.1375G>T (p.Glu459Ter) c.1279G>T (p.Glu427Ter) c.8370+124073C>A (n.8370+124073C>A) | |
| 2 | g.108897119C= | CA1278354284 | EDAR,RANBP2 | c.1135G= (p.Glu379=) c.1231G= (p.Glu411=) c.1282G= (p.Glu428=) c.1186G= (p.Glu396=) c.562G= (p.Glu188=) c.1375G= (p.Glu459=) c.1279G= (p.Glu427=) c.8370+124073C= (n.8370+124073C=) | |
| 2 | g.108897119C>G | CA348048150 | EDAR,RANBP2 | c.1135G>C (p.Glu379Gln) c.1231G>C (p.Glu411Gln) c.1282G>C (p.Glu428Gln) c.1186G>C (p.Glu396Gln) c.562G>C (p.Glu188Gln) c.1375G>C (p.Glu459Gln) c.1279G>C (p.Glu427Gln) c.8370+124073C>G (n.8370+124073C>G) | |
| 2 | g.108897119C>T | CA1824812 | EDAR,RANBP2 | c.1135G>A (p.Glu379Lys) c.1231G>A (p.Glu411Lys) c.1282G>A (p.Glu428Lys) c.1186G>A (p.Glu396Lys) c.562G>A (p.Glu188Lys) c.1375G>A (p.Glu459Lys) c.1279G>A (p.Glu427Lys) c.8370+124073C>T (n.8370+124073C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897120G>A | CA428204147 | EDAR,RANBP2 | c.1134C>T (p.Ala378=) c.1230C>T (p.Ala410=) c.1281C>T (p.Ala427=) c.1185C>T (p.Ala395=) c.561C>T (p.Ala187=) c.1374C>T (p.Ala458=) c.1278C>T (p.Ala426=) c.8370+124074G>A (n.8370+124074G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.108897120G>C | CA428204146 | EDAR,RANBP2 | c.1134C>G (p.Ala378=) c.1230C>G (p.Ala410=) c.1281C>G (p.Ala427=) c.1185C>G (p.Ala395=) c.561C>G (p.Ala187=) c.1374C>G (p.Ala458=) c.1278C>G (p.Ala426=) c.8370+124074G>C (n.8370+124074G>C) | |
| 2 | g.108897120G= | CA1278354285 | EDAR,RANBP2 | c.1134C= (p.Ala378=) c.1230C= (p.Ala410=) c.1281C= (p.Ala427=) c.1185C= (p.Ala395=) c.561C= (p.Ala187=) c.1374C= (p.Ala458=) c.1278C= (p.Ala426=) c.8370+124074G= (n.8370+124074G=) | |
| 2 | g.108897120G>T | CA428204145 | EDAR,RANBP2 | c.1134C>A (p.Ala378=) c.1230C>A (p.Ala410=) c.1281C>A (p.Ala427=) c.1185C>A (p.Ala395=) c.561C>A (p.Ala187=) c.1374C>A (p.Ala458=) c.1278C>A (p.Ala426=) c.8370+124074G>T (n.8370+124074G>T) | |
| 2 | g.108897121G>A | CA348048151 | EDAR,RANBP2 | c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) c.1280C>T (p.Ala427Val) c.1184C>T (p.Ala395Val) c.560C>T (p.Ala187Val) c.1373C>T (p.Ala458Val) c.1277C>T (p.Ala426Val) c.8370+124075G>A (n.8370+124075G>A) | ClinVar dbSNP |
| 2 | g.108897121G>C | CA348048152 | EDAR,RANBP2 | c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) c.1280C>G (p.Ala427Gly) c.1184C>G (p.Ala395Gly) c.560C>G (p.Ala187Gly) c.1373C>G (p.Ala458Gly) c.1277C>G (p.Ala426Gly) c.8370+124075G>C (n.8370+124075G>C) | |
| 2 | g.108897121G>T | CA348048153 | EDAR,RANBP2 | c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) c.1280C>A (p.Ala427Asp) c.1184C>A (p.Ala395Asp) c.560C>A (p.Ala187Asp) c.1373C>A (p.Ala458Asp) c.1277C>A (p.Ala426Asp) c.8370+124075G>T (n.8370+124075G>T) | |
| 2 | g.108897122C>A | CA348048156 | EDAR,RANBP2 | c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) c.1279G>T (p.Ala427Ser) c.1183G>T (p.Ala395Ser) c.559G>T (p.Ala187Ser) c.1372G>T (p.Ala458Ser) c.1276G>T (p.Ala426Ser) c.8370+124076C>A (n.8370+124076C>A) | |
| 2 | g.108897122C= | CA1278354286 | EDAR,RANBP2 | c.1132G= (p.Ala378=) c.1228G= (p.Ala410=) c.1279G= (p.Ala427=) c.1183G= (p.Ala395=) c.559G= (p.Ala187=) c.1372G= (p.Ala458=) c.1276G= (p.Ala426=) c.8370+124076C= (n.8370+124076C=) | |
| 2 | g.108897122C>G | CA348048155 | EDAR,RANBP2 | c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) c.1279G>C (p.Ala427Pro) c.1183G>C (p.Ala395Pro) c.559G>C (p.Ala187Pro) c.1372G>C (p.Ala458Pro) c.1276G>C (p.Ala426Pro) c.8370+124076C>G (n.8370+124076C>G) | |
| 2 | g.108897122C>T | CA348048154 | EDAR,RANBP2 | c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) c.1279G>A (p.Ala427Thr) c.1183G>A (p.Ala395Thr) c.559G>A (p.Ala187Thr) c.1372G>A (p.Ala458Thr) c.1276G>A (p.Ala426Thr) c.8370+124076C>T (n.8370+124076C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |