| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108907873T>A | CA348050735 | EDAR,RANBP2 | c.950A>T (p.Asn317Ile) c.1046A>T (p.Asn349Ile) c.1097A>T (p.Asn366Ile) c.1001A>T (p.Asn334Ile) c.377A>T (p.Asn126Ile) c.1190A>T (p.Asn397Ile) c.1094A>T (p.Asn365Ile) c.8370+134827T>A (n.8370+134827T>A) | |
| 2 | g.108907873T>C | CA348050736 | EDAR,RANBP2 | c.950A>G (p.Asn317Ser) c.1046A>G (p.Asn349Ser) c.1097A>G (p.Asn366Ser) c.1001A>G (p.Asn334Ser) c.377A>G (p.Asn126Ser) c.1190A>G (p.Asn397Ser) c.1094A>G (p.Asn365Ser) c.8370+134827T>C (n.8370+134827T>C) | |
| 2 | g.108907873T>G | CA348050737 | EDAR,RANBP2 | c.950A>C (p.Asn317Thr) c.1046A>C (p.Asn349Thr) c.1097A>C (p.Asn366Thr) c.1001A>C (p.Asn334Thr) c.377A>C (p.Asn126Thr) c.1190A>C (p.Asn397Thr) c.1094A>C (p.Asn365Thr) c.8370+134827T>G (n.8370+134827T>G) | |
| 2 | g.108907874T>A | CA348050742 | EDAR,RANBP2 | c.949A>T (p.Asn317Tyr) c.1045A>T (p.Asn349Tyr) c.1096A>T (p.Asn366Tyr) c.1000A>T (p.Asn334Tyr) c.376A>T (p.Asn126Tyr) c.1189A>T (p.Asn397Tyr) c.1093A>T (p.Asn365Tyr) c.8370+134828T>A (n.8370+134828T>A) | |
| 2 | g.108907874T>C | CA348050740 | EDAR,RANBP2 | c.949A>G (p.Asn317Asp) c.1045A>G (p.Asn349Asp) c.1096A>G (p.Asn366Asp) c.1000A>G (p.Asn334Asp) c.376A>G (p.Asn126Asp) c.1189A>G (p.Asn397Asp) c.1093A>G (p.Asn365Asp) c.8370+134828T>C (n.8370+134828T>C) | dbSNP gnomAD v4 |
| 2 | g.108907874T>G | CA348050739 | EDAR,RANBP2 | c.949A>C (p.Asn317His) c.1045A>C (p.Asn349His) c.1096A>C (p.Asn366His) c.1000A>C (p.Asn334His) c.376A>C (p.Asn126His) c.1189A>C (p.Asn397His) c.1093A>C (p.Asn365His) c.8370+134828T>G (n.8370+134828T>G) | |
| 2 | g.108907874T= | CA1278358937 | EDAR,RANBP2 | c.949A= (p.Asn317=) c.1045A= (p.Asn349=) c.1096A= (p.Asn366=) c.1000A= (p.Asn334=) c.376A= (p.Asn126=) c.1189A= (p.Asn397=) c.1093A= (p.Asn365=) c.8370+134828T= (n.8370+134828T=) | |
| 2 | g.108907875G>A | CA427911783 | EDAR,RANBP2 | c.948C>T (p.Ser316=) c.1044C>T (p.Ser348=) c.1095C>T (p.Ser365=) c.999C>T (p.Ser333=) c.375C>T (p.Ser125=) c.1188C>T (p.Ser396=) c.1092C>T (p.Ser364=) c.8370+134829G>A (n.8370+134829G>A) | |
| 2 | g.108907875G>C | CA348050744 | EDAR,RANBP2 | c.948C>G (p.Ser316Arg) c.1044C>G (p.Ser348Arg) c.1095C>G (p.Ser365Arg) c.999C>G (p.Ser333Arg) c.375C>G (p.Ser125Arg) c.1188C>G (p.Ser396Arg) c.1092C>G (p.Ser364Arg) c.8370+134829G>C (n.8370+134829G>C) | |
| 2 | g.108907875G>T | CA348050745 | EDAR,RANBP2 | c.948C>A (p.Ser316Arg) c.1044C>A (p.Ser348Arg) c.1095C>A (p.Ser365Arg) c.999C>A (p.Ser333Arg) c.375C>A (p.Ser125Arg) c.1188C>A (p.Ser396Arg) c.1092C>A (p.Ser364Arg) c.8370+134829G>T (n.8370+134829G>T) | |
| 2 | g.108907876C>A | CA348050746 | EDAR,RANBP2 | c.947G>T (p.Ser316Ile) c.1043G>T (p.Ser348Ile) c.1094G>T (p.Ser365Ile) c.998G>T (p.Ser333Ile) c.374G>T (p.Ser125Ile) c.1187G>T (p.Ser396Ile) c.1091G>T (p.Ser364Ile) c.8370+134830C>A (n.8370+134830C>A) | |
| 2 | g.108907876C>G | CA348050747 | EDAR,RANBP2 | c.947G>C (p.Ser316Thr) c.1043G>C (p.Ser348Thr) c.1094G>C (p.Ser365Thr) c.998G>C (p.Ser333Thr) c.374G>C (p.Ser125Thr) c.1187G>C (p.Ser396Thr) c.1091G>C (p.Ser364Thr) c.8370+134830C>G (n.8370+134830C>G) | |
| 2 | g.108907876C>T | CA348050749 | EDAR,RANBP2 | c.947G>A (p.Ser316Asn) c.1043G>A (p.Ser348Asn) c.1094G>A (p.Ser365Asn) c.998G>A (p.Ser333Asn) c.374G>A (p.Ser125Asn) c.1187G>A (p.Ser396Asn) c.1091G>A (p.Ser364Asn) c.8370+134830C>T (n.8370+134830C>T) | gnomAD v4 |
| 2 | g.108907877T>A | CA348050754 | EDAR,RANBP2 | c.946A>T (p.Ser316Cys) c.1042A>T (p.Ser348Cys) c.1093A>T (p.Ser365Cys) c.997A>T (p.Ser333Cys) c.373A>T (p.Ser125Cys) c.1186A>T (p.Ser396Cys) c.1090A>T (p.Ser364Cys) c.8370+134831T>A (n.8370+134831T>A) | |
| 2 | g.108907877T>C | CA348050752 | EDAR,RANBP2 | c.946A>G (p.Ser316Gly) c.1042A>G (p.Ser348Gly) c.1093A>G (p.Ser365Gly) c.997A>G (p.Ser333Gly) c.373A>G (p.Ser125Gly) c.1186A>G (p.Ser396Gly) c.1090A>G (p.Ser364Gly) c.8370+134831T>C (n.8370+134831T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108907877T>G | CA348050751 | EDAR,RANBP2 | c.946A>C (p.Ser316Arg) c.1042A>C (p.Ser348Arg) c.1093A>C (p.Ser365Arg) c.997A>C (p.Ser333Arg) c.373A>C (p.Ser125Arg) c.1186A>C (p.Ser396Arg) c.1090A>C (p.Ser364Arg) c.8370+134831T>G (n.8370+134831T>G) | |
| 2 | g.108907877T= | CA1278358938 | EDAR,RANBP2 | c.946A= (p.Ser316=) c.1042A= (p.Ser348=) c.1093A= (p.Ser365=) c.997A= (p.Ser333=) c.373A= (p.Ser125=) c.1186A= (p.Ser396=) c.1090A= (p.Ser364=) c.8370+134831T= (n.8370+134831T=) | |
| 2 | g.108907878G>A | CA427911784 | EDAR,RANBP2 | c.945C>T (p.Thr315=) c.1041C>T (p.Thr347=) c.1092C>T (p.Thr364=) c.996C>T (p.Thr332=) c.372C>T (p.Thr124=) c.1185C>T (p.Thr395=) c.1089C>T (p.Thr363=) c.8370+134832G>A (n.8370+134832G>A) | |
| 2 | g.108907878G>C | CA427911786 | EDAR,RANBP2 | c.945C>G (p.Thr315=) c.1041C>G (p.Thr347=) c.1092C>G (p.Thr364=) c.996C>G (p.Thr332=) c.372C>G (p.Thr124=) c.1185C>G (p.Thr395=) c.1089C>G (p.Thr363=) c.8370+134832G>C (n.8370+134832G>C) | |
| 2 | g.108907878G>T | CA427911785 | EDAR,RANBP2 | c.945C>A (p.Thr315=) c.1041C>A (p.Thr347=) c.1092C>A (p.Thr364=) c.996C>A (p.Thr332=) c.372C>A (p.Thr124=) c.1185C>A (p.Thr395=) c.1089C>A (p.Thr363=) c.8370+134832G>T (n.8370+134832G>T) | |
| 2 | g.108907879G>A | CA348050755 | EDAR,RANBP2 | c.944C>T (p.Thr315Ile) c.1040C>T (p.Thr347Ile) c.1091C>T (p.Thr364Ile) c.995C>T (p.Thr332Ile) c.371C>T (p.Thr124Ile) c.1184C>T (p.Thr395Ile) c.1088C>T (p.Thr363Ile) c.8370+134833G>A (n.8370+134833G>A) | |
| 2 | g.108907879G>C | CA348050757 | EDAR,RANBP2 | c.944C>G (p.Thr315Ser) c.1040C>G (p.Thr347Ser) c.1091C>G (p.Thr364Ser) c.995C>G (p.Thr332Ser) c.371C>G (p.Thr124Ser) c.1184C>G (p.Thr395Ser) c.1088C>G (p.Thr363Ser) c.8370+134833G>C (n.8370+134833G>C) | |
| 2 | g.108907879G>T | CA348050758 | EDAR,RANBP2 | c.944C>A (p.Thr315Asn) c.1040C>A (p.Thr347Asn) c.1091C>A (p.Thr364Asn) c.995C>A (p.Thr332Asn) c.371C>A (p.Thr124Asn) c.1184C>A (p.Thr395Asn) c.1088C>A (p.Thr363Asn) c.8370+134833G>T (n.8370+134833G>T) | |
| 2 | g.108907880T>A | CA348050760 | EDAR,RANBP2 | c.943A>T (p.Thr315Ser) c.1039A>T (p.Thr347Ser) c.1090A>T (p.Thr364Ser) c.994A>T (p.Thr332Ser) c.370A>T (p.Thr124Ser) c.1183A>T (p.Thr395Ser) c.1087A>T (p.Thr363Ser) c.8370+134834T>A (n.8370+134834T>A) | |
| 2 | g.108907880T>C | CA348050762 | EDAR,RANBP2 | c.943A>G (p.Thr315Ala) c.1039A>G (p.Thr347Ala) c.1090A>G (p.Thr364Ala) c.994A>G (p.Thr332Ala) c.370A>G (p.Thr124Ala) c.1183A>G (p.Thr395Ala) c.1087A>G (p.Thr363Ala) c.8370+134834T>C (n.8370+134834T>C) | |
| 2 | g.108907880T>G | CA348050763 | EDAR,RANBP2 | c.943A>C (p.Thr315Pro) c.1039A>C (p.Thr347Pro) c.1090A>C (p.Thr364Pro) c.994A>C (p.Thr332Pro) c.370A>C (p.Thr124Pro) c.1183A>C (p.Thr395Pro) c.1087A>C (p.Thr363Pro) c.8370+134834T>G (n.8370+134834T>G) | |
| 2 | g.108907881G>A | CA427911787 | EDAR,RANBP2 | c.942C>T (p.Ala314=) c.1038C>T (p.Ala346=) c.1089C>T (p.Ala363=) c.993C>T (p.Ala331=) c.369C>T (p.Ala123=) c.1182C>T (p.Ala394=) c.1086C>T (p.Ala362=) c.8370+134835G>A (n.8370+134835G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108907881G>C | CA427911788 | EDAR,RANBP2 | c.942C>G (p.Ala314=) c.1038C>G (p.Ala346=) c.1089C>G (p.Ala363=) c.993C>G (p.Ala331=) c.369C>G (p.Ala123=) c.1182C>G (p.Ala394=) c.1086C>G (p.Ala362=) c.8370+134835G>C (n.8370+134835G>C) | |
| 2 | g.108907881G= | CA1278358939 | EDAR,RANBP2 | c.942C= (p.Ala314=) c.1038C= (p.Ala346=) c.1089C= (p.Ala363=) c.993C= (p.Ala331=) c.369C= (p.Ala123=) c.1182C= (p.Ala394=) c.1086C= (p.Ala362=) c.8370+134835G= (n.8370+134835G=) | |
| 2 | g.108907881G>T | CA427911789 | EDAR,RANBP2 | c.942C>A (p.Ala314=) c.1038C>A (p.Ala346=) c.1089C>A (p.Ala363=) c.993C>A (p.Ala331=) c.369C>A (p.Ala123=) c.1182C>A (p.Ala394=) c.1086C>A (p.Ala362=) c.8370+134835G>T (n.8370+134835G>T) | |
| 2 | g.108907882G>A | CA348050764 | EDAR,RANBP2 | c.941C>T (p.Ala314Val) c.1037C>T (p.Ala346Val) c.1088C>T (p.Ala363Val) c.992C>T (p.Ala331Val) c.368C>T (p.Ala123Val) c.1181C>T (p.Ala394Val) c.1085C>T (p.Ala362Val) c.8370+134836G>A (n.8370+134836G>A) | |
| 2 | g.108907882G>C | CA348050768 | EDAR,RANBP2 | c.941C>G (p.Ala314Gly) c.1037C>G (p.Ala346Gly) c.1088C>G (p.Ala363Gly) c.992C>G (p.Ala331Gly) c.368C>G (p.Ala123Gly) c.1181C>G (p.Ala394Gly) c.1085C>G (p.Ala362Gly) c.8370+134836G>C (n.8370+134836G>C) | |
| 2 | g.108907882G>T | CA348050766 | EDAR,RANBP2 | c.941C>A (p.Ala314Asp) c.1037C>A (p.Ala346Asp) c.1088C>A (p.Ala363Asp) c.992C>A (p.Ala331Asp) c.368C>A (p.Ala123Asp) c.1181C>A (p.Ala394Asp) c.1085C>A (p.Ala362Asp) c.8370+134836G>T (n.8370+134836G>T) | |
| 2 | g.108907883C>A | CA348050769 | EDAR,RANBP2 | c.940G>T (p.Ala314Ser) c.1036G>T (p.Ala346Ser) c.1087G>T (p.Ala363Ser) c.991G>T (p.Ala331Ser) c.367G>T (p.Ala123Ser) c.1180G>T (p.Ala394Ser) c.1084G>T (p.Ala362Ser) c.8370+134837C>A (n.8370+134837C>A) | |
| 2 | g.108907883C>G | CA348050771 | EDAR,RANBP2 | c.940G>C (p.Ala314Pro) c.1036G>C (p.Ala346Pro) c.1087G>C (p.Ala363Pro) c.991G>C (p.Ala331Pro) c.367G>C (p.Ala123Pro) c.1180G>C (p.Ala394Pro) c.1084G>C (p.Ala362Pro) c.8370+134837C>G (n.8370+134837C>G) | |
| 2 | g.108907883C>T | CA348050772 | EDAR,RANBP2 | c.940G>A (p.Ala314Thr) c.1036G>A (p.Ala346Thr) c.1087G>A (p.Ala363Thr) c.991G>A (p.Ala331Thr) c.367G>A (p.Ala123Thr) c.1180G>A (p.Ala394Thr) c.1084G>A (p.Ala362Thr) c.8370+134837C>T (n.8370+134837C>T) | |
| 2 | g.108907884A>C | CA427911790 | EDAR,RANBP2 | c.939T>G (p.Ser313=) c.1035T>G (p.Ser345=) c.1086T>G (p.Ser362=) c.990T>G (p.Ser330=) c.366T>G (p.Ser122=) c.1179T>G (p.Ser393=) c.1083T>G (p.Ser361=) c.8370+134838A>C (n.8370+134838A>C) | |
| 2 | g.108907884A>G | CA427911791 | EDAR,RANBP2 | c.939T>C (p.Ser313=) c.1035T>C (p.Ser345=) c.1086T>C (p.Ser362=) c.990T>C (p.Ser330=) c.366T>C (p.Ser122=) c.1179T>C (p.Ser393=) c.1083T>C (p.Ser361=) c.8370+134838A>G (n.8370+134838A>G) | gnomAD v4 |
| 2 | g.108907884A>T | CA427911792 | EDAR,RANBP2 | c.939T>A (p.Ser313=) c.1035T>A (p.Ser345=) c.1086T>A (p.Ser362=) c.990T>A (p.Ser330=) c.366T>A (p.Ser122=) c.1179T>A (p.Ser393=) c.1083T>A (p.Ser361=) c.8370+134838A>T (n.8370+134838A>T) | |
| 2 | g.108907885G>A | CA348050774 | EDAR,RANBP2 | c.938C>T (p.Ser313Phe) c.1034C>T (p.Ser345Phe) c.1085C>T (p.Ser362Phe) c.989C>T (p.Ser330Phe) c.365C>T (p.Ser122Phe) c.1178C>T (p.Ser393Phe) c.1082C>T (p.Ser361Phe) c.8370+134839G>A (n.8370+134839G>A) | |
| 2 | g.108907885G>C | CA348050776 | EDAR,RANBP2 | c.938C>G (p.Ser313Cys) c.1034C>G (p.Ser345Cys) c.1085C>G (p.Ser362Cys) c.989C>G (p.Ser330Cys) c.365C>G (p.Ser122Cys) c.1178C>G (p.Ser393Cys) c.1082C>G (p.Ser361Cys) c.8370+134839G>C (n.8370+134839G>C) | |
| 2 | g.108907885G>T | CA348050777 | EDAR,RANBP2 | c.938C>A (p.Ser313Tyr) c.1034C>A (p.Ser345Tyr) c.1085C>A (p.Ser362Tyr) c.989C>A (p.Ser330Tyr) c.365C>A (p.Ser122Tyr) c.1178C>A (p.Ser393Tyr) c.1082C>A (p.Ser361Tyr) c.8370+134839G>T (n.8370+134839G>T) | |
| 2 | g.108907886A>C | CA348050779 | EDAR,RANBP2 | c.937T>G (p.Ser313Ala) c.1033T>G (p.Ser345Ala) c.1084T>G (p.Ser362Ala) c.988T>G (p.Ser330Ala) c.364T>G (p.Ser122Ala) c.1177T>G (p.Ser393Ala) c.1081T>G (p.Ser361Ala) c.8370+134840A>C (n.8370+134840A>C) | |
| 2 | g.108907886A>G | CA348050780 | EDAR,RANBP2 | c.937T>C (p.Ser313Pro) c.1033T>C (p.Ser345Pro) c.1084T>C (p.Ser362Pro) c.988T>C (p.Ser330Pro) c.364T>C (p.Ser122Pro) c.1177T>C (p.Ser393Pro) c.1081T>C (p.Ser361Pro) c.8370+134840A>G (n.8370+134840A>G) | |
| 2 | g.108907886A>T | CA348050781 | EDAR,RANBP2 | c.937T>A (p.Ser313Thr) c.1033T>A (p.Ser345Thr) c.1084T>A (p.Ser362Thr) c.988T>A (p.Ser330Thr) c.364T>A (p.Ser122Thr) c.1177T>A (p.Ser393Thr) c.1081T>A (p.Ser361Thr) c.8370+134840A>T (n.8370+134840A>T) | |
| 2 | g.108907887C>A | CA348050783 | EDAR,RANBP2 | c.936G>T (p.Lys312Asn) c.1032G>T (p.Lys344Asn) c.1083G>T (p.Lys361Asn) c.987G>T (p.Lys329Asn) c.363G>T (p.Lys121Asn) c.1176G>T (p.Lys392Asn) c.1080G>T (p.Lys360Asn) c.8370+134841C>A (n.8370+134841C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108907887C= | CA1278358940 | EDAR,RANBP2 | c.936G= (p.Lys312=) c.1032G= (p.Lys344=) c.1083G= (p.Lys361=) c.987G= (p.Lys329=) c.363G= (p.Lys121=) c.1176G= (p.Lys392=) c.1080G= (p.Lys360=) c.8370+134841C= (n.8370+134841C=) | |
| 2 | g.108907887C>G | CA348050785 | EDAR,RANBP2 | c.936G>C (p.Lys312Asn) c.1032G>C (p.Lys344Asn) c.1083G>C (p.Lys361Asn) c.987G>C (p.Lys329Asn) c.363G>C (p.Lys121Asn) c.1176G>C (p.Lys392Asn) c.1080G>C (p.Lys360Asn) c.8370+134841C>G (n.8370+134841C>G) | dbSNP COSMIC COSMIC |
| 2 | g.108907887C>T | CA427911793 | EDAR,RANBP2 | c.936G>A (p.Lys312=) c.1032G>A (p.Lys344=) c.1083G>A (p.Lys361=) c.987G>A (p.Lys329=) c.363G>A (p.Lys121=) c.1176G>A (p.Lys392=) c.1080G>A (p.Lys360=) c.8370+134841C>T (n.8370+134841C>T) | |
| 2 | g.108907888T>A | CA348050788 | EDAR,RANBP2 | c.935A>T (p.Lys312Met) c.1031A>T (p.Lys344Met) c.1082A>T (p.Lys361Met) c.986A>T (p.Lys329Met) c.362A>T (p.Lys121Met) c.1175A>T (p.Lys392Met) c.1079A>T (p.Lys360Met) c.8370+134842T>A (n.8370+134842T>A) |