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