Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108907867G>A | CA348050709 | EDAR,RANBP2 | c.956C>T (p.Ser319Leu) c.1052C>T (p.Ser351Leu) c.1103C>T (p.Ser368Leu) c.1007C>T (p.Ser336Leu) c.383C>T (p.Ser128Leu) c.1196C>T (p.Ser399Leu) c.1100C>T (p.Ser367Leu) c.8370+134821G>A (n.8370+134821G>A) | COSMIC COSMIC |
2 | g.108907867G>C | CA348050711 | EDAR,RANBP2 | c.956C>G (p.Ser319Ter) c.1052C>G (p.Ser351Ter) c.1103C>G (p.Ser368Ter) c.1007C>G (p.Ser336Ter) c.383C>G (p.Ser128Ter) c.1196C>G (p.Ser399Ter) c.1100C>G (p.Ser367Ter) c.8370+134821G>C (n.8370+134821G>C) | |
2 | g.108907867G>T | CA348050713 | EDAR,RANBP2 | c.956C>A (p.Ser319Ter) c.1052C>A (p.Ser351Ter) c.1103C>A (p.Ser368Ter) c.1007C>A (p.Ser336Ter) c.383C>A (p.Ser128Ter) c.1196C>A (p.Ser399Ter) c.1100C>A (p.Ser367Ter) c.8370+134821G>T (n.8370+134821G>T) | |
2 | g.108907868A>C | CA348050714 | EDAR,RANBP2 | c.955T>G (p.Ser319Ala) c.1051T>G (p.Ser351Ala) c.1102T>G (p.Ser368Ala) c.1006T>G (p.Ser336Ala) c.382T>G (p.Ser128Ala) c.1195T>G (p.Ser399Ala) c.1099T>G (p.Ser367Ala) c.8370+134822A>C (n.8370+134822A>C) | |
2 | g.108907868A>G | CA348050716 | EDAR,RANBP2 | c.955T>C (p.Ser319Pro) c.1051T>C (p.Ser351Pro) c.1102T>C (p.Ser368Pro) c.1006T>C (p.Ser336Pro) c.382T>C (p.Ser128Pro) c.1195T>C (p.Ser399Pro) c.1099T>C (p.Ser367Pro) c.8370+134822A>G (n.8370+134822A>G) | |
2 | g.108907868A>T | CA348050717 | EDAR,RANBP2 | c.955T>A (p.Ser319Thr) c.1051T>A (p.Ser351Thr) c.1102T>A (p.Ser368Thr) c.1006T>A (p.Ser336Thr) c.382T>A (p.Ser128Thr) c.1195T>A (p.Ser399Thr) c.1099T>A (p.Ser367Thr) c.8370+134822A>T (n.8370+134822A>T) | |
2 | g.108907869C>A | CA348050719 | EDAR,RANBP2 | c.954G>T (p.Lys318Asn) c.1050G>T (p.Lys350Asn) c.1101G>T (p.Lys367Asn) c.1005G>T (p.Lys335Asn) c.381G>T (p.Lys127Asn) c.1194G>T (p.Lys398Asn) c.1098G>T (p.Lys366Asn) c.8370+134823C>A (n.8370+134823C>A) | |
2 | g.108907869C>G | CA348050721 | EDAR,RANBP2 | c.954G>C (p.Lys318Asn) c.1050G>C (p.Lys350Asn) c.1101G>C (p.Lys367Asn) c.1005G>C (p.Lys335Asn) c.381G>C (p.Lys127Asn) c.1194G>C (p.Lys398Asn) c.1098G>C (p.Lys366Asn) c.8370+134823C>G (n.8370+134823C>G) | |
2 | g.108907869C>T | CA427911781 | EDAR,RANBP2 | c.954G>A (p.Lys318=) c.1050G>A (p.Lys350=) c.1101G>A (p.Lys367=) c.1005G>A (p.Lys335=) c.381G>A (p.Lys127=) c.1194G>A (p.Lys398=) c.1098G>A (p.Lys366=) c.8370+134823C>T (n.8370+134823C>T) | |
2 | g.108907870T>A | CA348050722 | EDAR,RANBP2 | c.953A>T (p.Lys318Met) c.1049A>T (p.Lys350Met) c.1100A>T (p.Lys367Met) c.1004A>T (p.Lys335Met) c.380A>T (p.Lys127Met) c.1193A>T (p.Lys398Met) c.1097A>T (p.Lys366Met) c.8370+134824T>A (n.8370+134824T>A) | |
2 | g.108907870T>C | CA348050723 | EDAR,RANBP2 | c.953A>G (p.Lys318Arg) c.1049A>G (p.Lys350Arg) c.1100A>G (p.Lys367Arg) c.1004A>G (p.Lys335Arg) c.380A>G (p.Lys127Arg) c.1193A>G (p.Lys398Arg) c.1097A>G (p.Lys366Arg) c.8370+134824T>C (n.8370+134824T>C) | |
2 | g.108907870T>G | CA348050726 | EDAR,RANBP2 | c.953A>C (p.Lys318Thr) c.1049A>C (p.Lys350Thr) c.1100A>C (p.Lys367Thr) c.1004A>C (p.Lys335Thr) c.380A>C (p.Lys127Thr) c.1193A>C (p.Lys398Thr) c.1097A>C (p.Lys366Thr) c.8370+134824T>G (n.8370+134824T>G) | |
2 | g.108907871T>A | CA348050727 | EDAR,RANBP2 | c.952A>T (p.Lys318Ter) c.1048A>T (p.Lys350Ter) c.1099A>T (p.Lys367Ter) c.1003A>T (p.Lys335Ter) c.379A>T (p.Lys127Ter) c.1192A>T (p.Lys398Ter) c.1096A>T (p.Lys366Ter) c.8370+134825T>A (n.8370+134825T>A) | |
2 | g.108907871T>C | CA1824886 | EDAR,RANBP2 | c.952A>G (p.Lys318Glu) c.1048A>G (p.Lys350Glu) c.1099A>G (p.Lys367Glu) c.1003A>G (p.Lys335Glu) c.379A>G (p.Lys127Glu) c.1192A>G (p.Lys398Glu) c.1096A>G (p.Lys366Glu) c.8370+134825T>C (n.8370+134825T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108907871T>G | CA348050729 | EDAR,RANBP2 | c.952A>C (p.Lys318Gln) c.1048A>C (p.Lys350Gln) c.1099A>C (p.Lys367Gln) c.1003A>C (p.Lys335Gln) c.379A>C (p.Lys127Gln) c.1192A>C (p.Lys398Gln) c.1096A>C (p.Lys366Gln) c.8370+134825T>G (n.8370+134825T>G) | |
2 | g.108907871T= | CA1278358936 | EDAR,RANBP2 | c.952A= (p.Lys318=) c.1048A= (p.Lys350=) c.1099A= (p.Lys367=) c.1003A= (p.Lys335=) c.379A= (p.Lys127=) c.1192A= (p.Lys398=) c.1096A= (p.Lys366=) c.8370+134825T= (n.8370+134825T=) | |
2 | g.108907872G>A | CA427911782 | EDAR,RANBP2 | c.951C>T (p.Asn317=) c.1047C>T (p.Asn349=) c.1098C>T (p.Asn366=) c.1002C>T (p.Asn334=) c.378C>T (p.Asn126=) c.1191C>T (p.Asn397=) c.1095C>T (p.Asn365=) c.8370+134826G>A (n.8370+134826G>A) | |
2 | g.108907872G>C | CA348050731 | EDAR,RANBP2 | c.951C>G (p.Asn317Lys) c.1047C>G (p.Asn349Lys) c.1098C>G (p.Asn366Lys) c.1002C>G (p.Asn334Lys) c.378C>G (p.Asn126Lys) c.1191C>G (p.Asn397Lys) c.1095C>G (p.Asn365Lys) c.8370+134826G>C (n.8370+134826G>C) | |
2 | g.108907872G>T | CA348050733 | EDAR,RANBP2 | c.951C>A (p.Asn317Lys) c.1047C>A (p.Asn349Lys) c.1098C>A (p.Asn366Lys) c.1002C>A (p.Asn334Lys) c.378C>A (p.Asn126Lys) c.1191C>A (p.Asn397Lys) c.1095C>A (p.Asn365Lys) c.8370+134826G>T (n.8370+134826G>T) | |
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) |