Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108907863G>A | CA1824885 | EDAR,RANBP2 | c.960C>T (p.Ala320=) c.1056C>T (p.Ala352=) c.1107C>T (p.Ala369=) c.1011C>T (p.Ala337=) c.387C>T (p.Ala129=) c.1200C>T (p.Ala400=) c.1104C>T (p.Ala368=) c.8370+134817G>A (n.8370+134817G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907863G>C | CA427911776 | EDAR,RANBP2 | c.960C>G (p.Ala320=) c.1056C>G (p.Ala352=) c.1107C>G (p.Ala369=) c.1011C>G (p.Ala337=) c.387C>G (p.Ala129=) c.1200C>G (p.Ala400=) c.1104C>G (p.Ala368=) c.8370+134817G>C (n.8370+134817G>C) | |
2 | g.108907863G= | CA1278358935 | EDAR,RANBP2 | c.960C= (p.Ala320=) c.1056C= (p.Ala352=) c.1107C= (p.Ala369=) c.1011C= (p.Ala337=) c.387C= (p.Ala129=) c.1200C= (p.Ala400=) c.1104C= (p.Ala368=) c.8370+134817G= (n.8370+134817G=) | |
2 | g.108907863G>T | CA427911777 | EDAR,RANBP2 | c.960C>A (p.Ala320=) c.1056C>A (p.Ala352=) c.1107C>A (p.Ala369=) c.1011C>A (p.Ala337=) c.387C>A (p.Ala129=) c.1200C>A (p.Ala400=) c.1104C>A (p.Ala368=) c.8370+134817G>T (n.8370+134817G>T) | |
2 | g.108907864G>A | CA348050701 | EDAR,RANBP2 | c.959C>T (p.Ala320Val) c.1055C>T (p.Ala352Val) c.1106C>T (p.Ala369Val) c.1010C>T (p.Ala337Val) c.386C>T (p.Ala129Val) c.1199C>T (p.Ala400Val) c.1103C>T (p.Ala368Val) c.8370+134818G>A (n.8370+134818G>A) | |
2 | g.108907864G>C | CA348050703 | EDAR,RANBP2 | c.959C>G (p.Ala320Gly) c.1055C>G (p.Ala352Gly) c.1106C>G (p.Ala369Gly) c.1010C>G (p.Ala337Gly) c.386C>G (p.Ala129Gly) c.1199C>G (p.Ala400Gly) c.1103C>G (p.Ala368Gly) c.8370+134818G>C (n.8370+134818G>C) | |
2 | g.108907864G>T | CA348050704 | EDAR,RANBP2 | c.959C>A (p.Ala320Asp) c.1055C>A (p.Ala352Asp) c.1106C>A (p.Ala369Asp) c.1010C>A (p.Ala337Asp) c.386C>A (p.Ala129Asp) c.1199C>A (p.Ala400Asp) c.1103C>A (p.Ala368Asp) c.8370+134818G>T (n.8370+134818G>T) | |
2 | g.108907865C>A | CA348050705 | EDAR,RANBP2 | c.958G>T (p.Ala320Ser) c.1054G>T (p.Ala352Ser) c.1105G>T (p.Ala369Ser) c.1009G>T (p.Ala337Ser) c.385G>T (p.Ala129Ser) c.1198G>T (p.Ala400Ser) c.1102G>T (p.Ala368Ser) c.8370+134819C>A (n.8370+134819C>A) | gnomAD v4 |
2 | g.108907865C>G | CA348050706 | EDAR,RANBP2 | c.958G>C (p.Ala320Pro) c.1054G>C (p.Ala352Pro) c.1105G>C (p.Ala369Pro) c.1009G>C (p.Ala337Pro) c.385G>C (p.Ala129Pro) c.1198G>C (p.Ala400Pro) c.1102G>C (p.Ala368Pro) c.8370+134819C>G (n.8370+134819C>G) | |
2 | g.108907865C>T | CA348050708 | EDAR,RANBP2 | c.958G>A (p.Ala320Thr) c.1054G>A (p.Ala352Thr) c.1105G>A (p.Ala369Thr) c.1009G>A (p.Ala337Thr) c.385G>A (p.Ala129Thr) c.1198G>A (p.Ala400Thr) c.1102G>A (p.Ala368Thr) c.8370+134819C>T (n.8370+134819C>T) | gnomAD v4 |
2 | g.108907866T>A | CA427911778 | EDAR,RANBP2 | c.957A>T (p.Ser319=) c.1053A>T (p.Ser351=) c.1104A>T (p.Ser368=) c.1008A>T (p.Ser336=) c.384A>T (p.Ser128=) c.1197A>T (p.Ser399=) c.1101A>T (p.Ser367=) c.8370+134820T>A (n.8370+134820T>A) | |
2 | g.108907866T>C | CA427911779 | EDAR,RANBP2 | c.957A>G (p.Ser319=) c.1053A>G (p.Ser351=) c.1104A>G (p.Ser368=) c.1008A>G (p.Ser336=) c.384A>G (p.Ser128=) c.1197A>G (p.Ser399=) c.1101A>G (p.Ser367=) c.8370+134820T>C (n.8370+134820T>C) | |
2 | g.108907866T>G | CA427911780 | EDAR,RANBP2 | c.957A>C (p.Ser319=) c.1053A>C (p.Ser351=) c.1104A>C (p.Ser368=) c.1008A>C (p.Ser336=) c.384A>C (p.Ser128=) c.1197A>C (p.Ser399=) c.1101A>C (p.Ser367=) c.8370+134820T>G (n.8370+134820T>G) | |
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) | |
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) | |
2 | g.108907888T>C | CA348050790 | EDAR,RANBP2 | c.935A>G (p.Lys312Arg) c.1031A>G (p.Lys344Arg) c.1082A>G (p.Lys361Arg) c.986A>G (p.Lys329Arg) c.362A>G (p.Lys121Arg) c.1175A>G (p.Lys392Arg) c.1079A>G (p.Lys360Arg) c.8370+134842T>C (n.8370+134842T>C) | |
2 | g.108907888T>G | CA348050787 | EDAR,RANBP2 | c.935A>C (p.Lys312Thr) c.1031A>C (p.Lys344Thr) c.1082A>C (p.Lys361Thr) c.986A>C (p.Lys329Thr) c.362A>C (p.Lys121Thr) c.1175A>C (p.Lys392Thr) c.1079A>C (p.Lys360Thr) c.8370+134842T>G (n.8370+134842T>G) | |
2 | g.108907889T>A | CA348050792 | EDAR,RANBP2 | c.934A>T (p.Lys312Ter) c.1030A>T (p.Lys344Ter) c.1081A>T (p.Lys361Ter) c.985A>T (p.Lys329Ter) c.361A>T (p.Lys121Ter) c.1174A>T (p.Lys392Ter) c.1078A>T (p.Lys360Ter) c.8370+134843T>A (n.8370+134843T>A) | gnomAD v4 |
2 | g.108907889T>C | CA348050794 | EDAR,RANBP2 | c.934A>G (p.Lys312Glu) c.1030A>G (p.Lys344Glu) c.1081A>G (p.Lys361Glu) c.985A>G (p.Lys329Glu) c.361A>G (p.Lys121Glu) c.1174A>G (p.Lys392Glu) c.1078A>G (p.Lys360Glu) c.8370+134843T>C (n.8370+134843T>C) | dbSNP gnomAD v4 |
2 | g.108907889T>G | CA348050793 | EDAR,RANBP2 | c.934A>C (p.Lys312Gln) c.1030A>C (p.Lys344Gln) c.1081A>C (p.Lys361Gln) c.985A>C (p.Lys329Gln) c.361A>C (p.Lys121Gln) c.1174A>C (p.Lys392Gln) c.1078A>C (p.Lys360Gln) c.8370+134843T>G (n.8370+134843T>G) | |
2 | g.108907889T= | CA1278358941 | EDAR,RANBP2 | c.934A= (p.Lys312=) c.1030A= (p.Lys344=) c.1081A= (p.Lys361=) c.985A= (p.Lys329=) c.361A= (p.Lys121=) c.1174A= (p.Lys392=) c.1078A= (p.Lys360=) c.8370+134843T= (n.8370+134843T=) | |
2 | g.108907890C>A | CA348050796 | EDAR,RANBP2 | c.933G>T (p.Glu311Asp) c.1029G>T (p.Glu343Asp) c.1080G>T (p.Glu360Asp) c.984G>T (p.Glu328Asp) c.360G>T (p.Glu120Asp) c.1173G>T (p.Glu391Asp) c.1077G>T (p.Glu359Asp) c.8370+134844C>A (n.8370+134844C>A) | |
2 | g.108907890C= | CA1278358942 | EDAR,RANBP2 | c.933G= (p.Glu311=) c.1029G= (p.Glu343=) c.1080G= (p.Glu360=) c.984G= (p.Glu328=) c.360G= (p.Glu120=) c.1173G= (p.Glu391=) c.1077G= (p.Glu359=) c.8370+134844C= (n.8370+134844C=) | |
2 | g.108907890C>G | CA1824887 | EDAR,RANBP2 | c.933G>C (p.Glu311Asp) c.1029G>C (p.Glu343Asp) c.1080G>C (p.Glu360Asp) c.984G>C (p.Glu328Asp) c.360G>C (p.Glu120Asp) c.1173G>C (p.Glu391Asp) c.1077G>C (p.Glu359Asp) c.8370+134844C>G (n.8370+134844C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907890C>T | CA427911794 | EDAR,RANBP2 | c.933G>A (p.Glu311=) c.1029G>A (p.Glu343=) c.1080G>A (p.Glu360=) c.984G>A (p.Glu328=) c.360G>A (p.Glu120=) c.1173G>A (p.Glu391=) c.1077G>A (p.Glu359=) c.8370+134844C>T (n.8370+134844C>T) | |
2 | g.108907891T>A | CA348050799 | EDAR,RANBP2 | c.932A>T (p.Glu311Val) c.1028A>T (p.Glu343Val) c.1079A>T (p.Glu360Val) c.983A>T (p.Glu328Val) c.359A>T (p.Glu120Val) c.1172A>T (p.Glu391Val) c.1076A>T (p.Glu359Val) c.8370+134845T>A (n.8370+134845T>A) | |
2 | g.108907891T>C | CA348050802 | EDAR,RANBP2 | c.932A>G (p.Glu311Gly) c.1028A>G (p.Glu343Gly) c.1079A>G (p.Glu360Gly) c.983A>G (p.Glu328Gly) c.359A>G (p.Glu120Gly) c.1172A>G (p.Glu391Gly) c.1076A>G (p.Glu359Gly) c.8370+134845T>C (n.8370+134845T>C) | |
2 | g.108907891T>G | CA348050800 | EDAR,RANBP2 | c.932A>C (p.Glu311Ala) c.1028A>C (p.Glu343Ala) c.1079A>C (p.Glu360Ala) c.983A>C (p.Glu328Ala) c.359A>C (p.Glu120Ala) c.1172A>C (p.Glu391Ala) c.1076A>C (p.Glu359Ala) c.8370+134845T>G (n.8370+134845T>G) | |
2 | g.108907892C>A | CA348050804 | EDAR,RANBP2 | c.931G>T (p.Glu311Ter) c.1027G>T (p.Glu343Ter) c.1078G>T (p.Glu360Ter) c.982G>T (p.Glu328Ter) c.358G>T (p.Glu120Ter) c.1171G>T (p.Glu391Ter) c.1075G>T (p.Glu359Ter) c.8370+134846C>A (n.8370+134846C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907892C= | CA1278358943 | EDAR,RANBP2 | c.931G= (p.Glu311=) c.1027G= (p.Glu343=) c.1078G= (p.Glu360=) c.982G= (p.Glu328=) c.358G= (p.Glu120=) c.1171G= (p.Glu391=) c.1075G= (p.Glu359=) c.8370+134846C= (n.8370+134846C=) | |
2 | g.108907892C>G | CA348050806 | EDAR,RANBP2 | c.931G>C (p.Glu311Gln) c.1027G>C (p.Glu343Gln) c.1078G>C (p.Glu360Gln) c.982G>C (p.Glu328Gln) c.358G>C (p.Glu120Gln) c.1171G>C (p.Glu391Gln) c.1075G>C (p.Glu359Gln) c.8370+134846C>G (n.8370+134846C>G) | |
2 | g.108907892C>T | CA348050805 | EDAR,RANBP2 | c.931G>A (p.Glu311Lys) c.1027G>A (p.Glu343Lys) c.1078G>A (p.Glu360Lys) c.982G>A (p.Glu328Lys) c.358G>A (p.Glu120Lys) c.1171G>A (p.Glu391Lys) c.1075G>A (p.Glu359Lys) c.8370+134846C>T (n.8370+134846C>T) | |
2 | g.108907894del | CA2740095683 | EDAR,RANBP2 | c.931del (p.Glu311ArgfsTer?) c.1027del (p.Glu343ArgfsTer?) c.1078del (p.Glu360ArgfsTer?) c.982del (p.Glu328ArgfsTer?) c.358del (p.Glu120ArgfsTer?) c.1171del (p.Glu391ArgfsTer?) c.1075del (p.Glu359ArgfsTer?) c.8370+134848del (n.8370+134848del) | ClinVar |
2 | g.108907893C>A | CA348050808 | EDAR,RANBP2 | c.930G>T (p.Arg310Ser) c.1026G>T (p.Arg342Ser) c.1077G>T (p.Arg359Ser) c.981G>T (p.Arg327Ser) c.357G>T (p.Arg119Ser) c.1170G>T (p.Arg390Ser) c.1074G>T (p.Arg358Ser) c.8370+134847C>A (n.8370+134847C>A) | |
2 | g.108907893C>G | CA348050810 | EDAR,RANBP2 | c.930G>C (p.Arg310Ser) c.1026G>C (p.Arg342Ser) c.1077G>C (p.Arg359Ser) c.981G>C (p.Arg327Ser) c.357G>C (p.Arg119Ser) c.1170G>C (p.Arg390Ser) c.1074G>C (p.Arg358Ser) c.8370+134847C>G (n.8370+134847C>G) | |
2 | g.108907893C>T | CA427911795 | EDAR,RANBP2 | c.930G>A (p.Arg310=) c.1026G>A (p.Arg342=) c.1077G>A (p.Arg359=) c.981G>A (p.Arg327=) c.357G>A (p.Arg119=) c.1170G>A (p.Arg390=) c.1074G>A (p.Arg358=) c.8370+134847C>T (n.8370+134847C>T) | |
2 | g.108907894C>A | CA348050811 | EDAR,RANBP2 | c.929G>T (p.Arg310Met) c.1025G>T (p.Arg342Met) c.1076G>T (p.Arg359Met) c.980G>T (p.Arg327Met) c.356G>T (p.Arg119Met) c.1169G>T (p.Arg390Met) c.1073G>T (p.Arg358Met) c.8370+134848C>A (n.8370+134848C>A) | dbSNP |
2 | g.108907894C= | CA1278358944 | EDAR,RANBP2 | c.929G= (p.Arg310=) c.1025G= (p.Arg342=) c.1076G= (p.Arg359=) c.980G= (p.Arg327=) c.356G= (p.Arg119=) c.1169G= (p.Arg390=) c.1073G= (p.Arg358=) c.8370+134848C= (n.8370+134848C=) | |
2 | g.108907894C>G | CA348050814 | EDAR,RANBP2 | c.929G>C (p.Arg310Thr) c.1025G>C (p.Arg342Thr) c.1076G>C (p.Arg359Thr) c.980G>C (p.Arg327Thr) c.356G>C (p.Arg119Thr) c.1169G>C (p.Arg390Thr) c.1073G>C (p.Arg358Thr) c.8370+134848C>G (n.8370+134848C>G) | |
2 | g.108907894C>T | CA348050812 | EDAR,RANBP2 | c.929G>A (p.Arg310Lys) c.1025G>A (p.Arg342Lys) c.1076G>A (p.Arg359Lys) c.980G>A (p.Arg327Lys) c.356G>A (p.Arg119Lys) c.1169G>A (p.Arg390Lys) c.1073G>A (p.Arg358Lys) c.8370+134848C>T (n.8370+134848C>T) | |
2 | g.108907895T>A | CA348050815 | EDAR,RANBP2 | c.928A>T (p.Arg310Trp) c.1024A>T (p.Arg342Trp) c.1075A>T (p.Arg359Trp) c.979A>T (p.Arg327Trp) c.355A>T (p.Arg119Trp) c.1168A>T (p.Arg390Trp) c.1072A>T (p.Arg358Trp) c.8370+134849T>A (n.8370+134849T>A) | |
2 | g.108907895T>C | CA348050817 | EDAR,RANBP2 | c.928A>G (p.Arg310Gly) c.1024A>G (p.Arg342Gly) c.1075A>G (p.Arg359Gly) c.979A>G (p.Arg327Gly) c.355A>G (p.Arg119Gly) c.1168A>G (p.Arg390Gly) c.1072A>G (p.Arg358Gly) c.8370+134849T>C (n.8370+134849T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108907895T>G | CA427911796 | EDAR,RANBP2 | c.928A>C (p.Arg310=) c.1024A>C (p.Arg342=) c.1075A>C (p.Arg359=) c.979A>C (p.Arg327=) c.355A>C (p.Arg119=) c.1168A>C (p.Arg390=) c.1072A>C (p.Arg358=) c.8370+134849T>G (n.8370+134849T>G) | |
2 | g.108907895T= | CA1278358945 | EDAR,RANBP2 | c.928A= (p.Arg310=) c.1024A= (p.Arg342=) c.1075A= (p.Arg359=) c.979A= (p.Arg327=) c.355A= (p.Arg119=) c.1168A= (p.Arg390=) c.1072A= (p.Arg358=) c.8370+134849T= (n.8370+134849T=) | |
2 | g.108907896G>A | CA427911797 | EDAR,RANBP2 | c.927C>T (p.Ala309=) c.1023C>T (p.Ala341=) c.1074C>T (p.Ala358=) c.978C>T (p.Ala326=) c.354C>T (p.Ala118=) c.1167C>T (p.Ala389=) c.1071C>T (p.Ala357=) c.8370+134850G>A (n.8370+134850G>A) | |
2 | g.108907896G>C | CA427911798 | EDAR,RANBP2 | c.927C>G (p.Ala309=) c.1023C>G (p.Ala341=) c.1074C>G (p.Ala358=) c.978C>G (p.Ala326=) c.354C>G (p.Ala118=) c.1167C>G (p.Ala389=) c.1071C>G (p.Ala357=) c.8370+134850G>C (n.8370+134850G>C) | |
2 | g.108907896G>T | CA427911799 | EDAR,RANBP2 | c.927C>A (p.Ala309=) c.1023C>A (p.Ala341=) c.1074C>A (p.Ala358=) c.978C>A (p.Ala326=) c.354C>A (p.Ala118=) c.1167C>A (p.Ala389=) c.1071C>A (p.Ala357=) c.8370+134850G>T (n.8370+134850G>T) | COSMIC COSMIC |
2 | g.108907897G>A | CA348050819 | EDAR,RANBP2 | c.926C>T (p.Ala309Val) c.1022C>T (p.Ala341Val) c.1073C>T (p.Ala358Val) c.977C>T (p.Ala326Val) c.353C>T (p.Ala118Val) c.1166C>T (p.Ala389Val) c.1070C>T (p.Ala357Val) c.8370+134851G>A (n.8370+134851G>A) | |
2 | g.108907897G>C | CA348050820 | EDAR,RANBP2 | c.926C>G (p.Ala309Gly) c.1022C>G (p.Ala341Gly) c.1073C>G (p.Ala358Gly) c.977C>G (p.Ala326Gly) c.353C>G (p.Ala118Gly) c.1166C>G (p.Ala389Gly) c.1070C>G (p.Ala357Gly) c.8370+134851G>C (n.8370+134851G>C) | |
2 | g.108907897G>T | CA348050821 | EDAR,RANBP2 | c.926C>A (p.Ala309Asp) c.1022C>A (p.Ala341Asp) c.1073C>A (p.Ala358Asp) c.977C>A (p.Ala326Asp) c.353C>A (p.Ala118Asp) c.1166C>A (p.Ala389Asp) c.1070C>A (p.Ala357Asp) c.8370+134851G>T (n.8370+134851G>T) | |
2 | g.108907897_108907899del | CA2577065588 | EDAR,RANBP2 | c.924_926del (p.Ala309del) c.1020_1022del (p.Ala341del) c.1071_1073del (p.Ala358del) c.975_977del (p.Ala326del) c.351_353del (p.Ala118del) c.1164_1166del (p.Ala389del) c.1068_1070del (p.Ala357del) c.8370+134851_8370+134853del (n.8370+134851_8370+134853del) | |
2 | g.108907898C>A | CA348050822 | EDAR,RANBP2 | c.925G>T (p.Ala309Ser) c.1021G>T (p.Ala341Ser) c.1072G>T (p.Ala358Ser) c.976G>T (p.Ala326Ser) c.352G>T (p.Ala118Ser) c.1165G>T (p.Ala389Ser) c.1069G>T (p.Ala357Ser) c.8370+134852C>A (n.8370+134852C>A) | |
2 | g.108907898C= | CA1278358946 | EDAR,RANBP2 | c.925G= (p.Ala309=) c.1021G= (p.Ala341=) c.1072G= (p.Ala358=) c.976G= (p.Ala326=) c.352G= (p.Ala118=) c.1165G= (p.Ala389=) c.1069G= (p.Ala357=) c.8370+134852C= (n.8370+134852C=) | |
2 | g.108907898C>G | CA348050824 | EDAR,RANBP2 | c.925G>C (p.Ala309Pro) c.1021G>C (p.Ala341Pro) c.1072G>C (p.Ala358Pro) c.976G>C (p.Ala326Pro) c.352G>C (p.Ala118Pro) c.1165G>C (p.Ala389Pro) c.1069G>C (p.Ala357Pro) c.8370+134852C>G (n.8370+134852C>G) | |
2 | g.108907898C>T | CA348050825 | EDAR,RANBP2 | c.925G>A (p.Ala309Thr) c.1021G>A (p.Ala341Thr) c.1072G>A (p.Ala358Thr) c.976G>A (p.Ala326Thr) c.352G>A (p.Ala118Thr) c.1165G>A (p.Ala389Thr) c.1069G>A (p.Ala357Thr) c.8370+134852C>T (n.8370+134852C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108907899C>A | CA427911802 | EDAR,RANBP2 | c.924G>T (p.Leu308=) c.1020G>T (p.Leu340=) c.1071G>T (p.Leu357=) c.975G>T (p.Leu325=) c.351G>T (p.Leu117=) c.1164G>T (p.Leu388=) c.1068G>T (p.Leu356=) c.8370+134853C>A (n.8370+134853C>A) | |
2 | g.108907899C= | CA1278358947 | EDAR,RANBP2 | c.924G= (p.Leu308=) c.1020G= (p.Leu340=) c.1071G= (p.Leu357=) c.975G= (p.Leu325=) c.351G= (p.Leu117=) c.1164G= (p.Leu388=) c.1068G= (p.Leu356=) c.8370+134853C= (n.8370+134853C=) | |
2 | g.108907899C>G | CA427911801 | EDAR,RANBP2 | c.924G>C (p.Leu308=) c.1020G>C (p.Leu340=) c.1071G>C (p.Leu357=) c.975G>C (p.Leu325=) c.351G>C (p.Leu117=) c.1164G>C (p.Leu388=) c.1068G>C (p.Leu356=) c.8370+134853C>G (n.8370+134853C>G) | |
2 | g.108907899C>T | CA427911800 | EDAR,RANBP2 | c.924G>A (p.Leu308=) c.1020G>A (p.Leu340=) c.1071G>A (p.Leu357=) c.975G>A (p.Leu325=) c.351G>A (p.Leu117=) c.1164G>A (p.Leu388=) c.1068G>A (p.Leu356=) c.8370+134853C>T (n.8370+134853C>T) | dbSNP |
2 | g.108907900A>C | CA348050826 | EDAR,RANBP2 | c.923T>G (p.Leu308Arg) c.1019T>G (p.Leu340Arg) c.1070T>G (p.Leu357Arg) c.974T>G (p.Leu325Arg) c.350T>G (p.Leu117Arg) c.1163T>G (p.Leu388Arg) c.1067T>G (p.Leu356Arg) c.8370+134854A>C (n.8370+134854A>C) | gnomAD v4 |
2 | g.108907900A>G | CA348050827 | EDAR,RANBP2 | c.923T>C (p.Leu308Pro) c.1019T>C (p.Leu340Pro) c.1070T>C (p.Leu357Pro) c.974T>C (p.Leu325Pro) c.350T>C (p.Leu117Pro) c.1163T>C (p.Leu388Pro) c.1067T>C (p.Leu356Pro) c.8370+134854A>G (n.8370+134854A>G) | |
2 | g.108907900A>T | CA348050829 | EDAR,RANBP2 | c.923T>A (p.Leu308Gln) c.1019T>A (p.Leu340Gln) c.1070T>A (p.Leu357Gln) c.974T>A (p.Leu325Gln) c.350T>A (p.Leu117Gln) c.1163T>A (p.Leu388Gln) c.1067T>A (p.Leu356Gln) c.8370+134854A>T (n.8370+134854A>T) | |
2 | g.108907901G>A | CA427911803 | EDAR,RANBP2 | c.922C>T (p.Leu308=) c.1018C>T (p.Leu340=) c.1069C>T (p.Leu357=) c.973C>T (p.Leu325=) c.349C>T (p.Leu117=) c.1162C>T (p.Leu388=) c.1066C>T (p.Leu356=) c.8370+134855G>A (n.8370+134855G>A) | ClinVar |
2 | g.108907901G>C | CA348050832 | EDAR,RANBP2 | c.922C>G (p.Leu308Val) c.1018C>G (p.Leu340Val) c.1069C>G (p.Leu357Val) c.973C>G (p.Leu325Val) c.349C>G (p.Leu117Val) c.1162C>G (p.Leu388Val) c.1066C>G (p.Leu356Val) c.8370+134855G>C (n.8370+134855G>C) | |
2 | g.108907901G>T | CA348050830 | EDAR,RANBP2 | c.922C>A (p.Leu308Met) c.1018C>A (p.Leu340Met) c.1069C>A (p.Leu357Met) c.973C>A (p.Leu325Met) c.349C>A (p.Leu117Met) c.1162C>A (p.Leu388Met) c.1066C>A (p.Leu356Met) c.8370+134855G>T (n.8370+134855G>T) | |
2 | g.108907902G>A | CA427911804 | EDAR,RANBP2 | c.921C>T (p.His307=) c.1017C>T (p.His339=) c.1068C>T (p.His356=) c.972C>T (p.His324=) c.348C>T (p.His116=) c.1161C>T (p.His387=) c.1065C>T (p.His355=) c.8370+134856G>A (n.8370+134856G>A) | |
2 | g.108907902G>C | CA348050833 | EDAR,RANBP2 | c.921C>G (p.His307Gln) c.1017C>G (p.His339Gln) c.1068C>G (p.His356Gln) c.972C>G (p.His324Gln) c.348C>G (p.His116Gln) c.1161C>G (p.His387Gln) c.1065C>G (p.His355Gln) c.8370+134856G>C (n.8370+134856G>C) | |
2 | g.108907902G>T | CA348050834 | EDAR,RANBP2 | c.921C>A (p.His307Gln) c.1017C>A (p.His339Gln) c.1068C>A (p.His356Gln) c.972C>A (p.His324Gln) c.348C>A (p.His116Gln) c.1161C>A (p.His387Gln) c.1065C>A (p.His355Gln) c.8370+134856G>T (n.8370+134856G>T) | gnomAD v4 |
2 | g.108907903T>A | CA348050835 | EDAR,RANBP2 | c.920A>T (p.His307Leu) c.1016A>T (p.His339Leu) c.1067A>T (p.His356Leu) c.971A>T (p.His324Leu) c.347A>T (p.His116Leu) c.1160A>T (p.His387Leu) c.1064A>T (p.His355Leu) c.8370+134857T>A (n.8370+134857T>A) | |
2 | g.108907903T>C | CA348050837 | EDAR,RANBP2 | c.920A>G (p.His307Arg) c.1016A>G (p.His339Arg) c.1067A>G (p.His356Arg) c.971A>G (p.His324Arg) c.347A>G (p.His116Arg) c.1160A>G (p.His387Arg) c.1064A>G (p.His355Arg) c.8370+134857T>C (n.8370+134857T>C) | |
2 | g.108907903T>G | CA348050839 | EDAR,RANBP2 | c.920A>C (p.His307Pro) c.1016A>C (p.His339Pro) c.1067A>C (p.His356Pro) c.971A>C (p.His324Pro) c.347A>C (p.His116Pro) c.1160A>C (p.His387Pro) c.1064A>C (p.His355Pro) c.8370+134857T>G (n.8370+134857T>G) | dbSNP |
2 | g.108907903T= | CA1278358948 | EDAR,RANBP2 | c.920A= (p.His307=) c.1016A= (p.His339=) c.1067A= (p.His356=) c.971A= (p.His324=) c.347A= (p.His116=) c.1160A= (p.His387=) c.1064A= (p.His355=) c.8370+134857T= (n.8370+134857T=) | |
2 | g.108907904G>A | CA53473273 | EDAR,RANBP2 | c.919C>T (p.His307Tyr) c.1015C>T (p.His339Tyr) c.1066C>T (p.His356Tyr) c.970C>T (p.His324Tyr) c.346C>T (p.His116Tyr) c.1159C>T (p.His387Tyr) c.1063C>T (p.His355Tyr) c.8370+134858G>A (n.8370+134858G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108907904G>C | CA348050841 | EDAR,RANBP2 | c.919C>G (p.His307Asp) c.1015C>G (p.His339Asp) c.1066C>G (p.His356Asp) c.970C>G (p.His324Asp) c.346C>G (p.His116Asp) c.1159C>G (p.His387Asp) c.1063C>G (p.His355Asp) c.8370+134858G>C (n.8370+134858G>C) | |
2 | g.108907904G= | CA1278358949 | EDAR,RANBP2 | c.919C= (p.His307=) c.1015C= (p.His339=) c.1066C= (p.His356=) c.970C= (p.His324=) c.346C= (p.His116=) c.1159C= (p.His387=) c.1063C= (p.His355=) c.8370+134858G= (n.8370+134858G=) | |
2 | g.108907904G>T | CA1824888 | EDAR,RANBP2 | c.919C>A (p.His307Asn) c.1015C>A (p.His339Asn) c.1066C>A (p.His356Asn) c.970C>A (p.His324Asn) c.346C>A (p.His116Asn) c.1159C>A (p.His387Asn) c.1063C>A (p.His355Asn) c.8370+134858G>T (n.8370+134858G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108907905A>C | CA427911806 | EDAR,RANBP2 | c.918T>G (p.Val306=) c.1014T>G (p.Val338=) c.1065T>G (p.Val355=) c.969T>G (p.Val323=) c.345T>G (p.Val115=) c.1158T>G (p.Val386=) c.1062T>G (p.Val354=) c.8370+134859A>C (n.8370+134859A>C) | |
2 | g.108907905A>G | CA427911808 | EDAR,RANBP2 | c.918T>C (p.Val306=) c.1014T>C (p.Val338=) c.1065T>C (p.Val355=) c.969T>C (p.Val323=) c.345T>C (p.Val115=) c.1158T>C (p.Val386=) c.1062T>C (p.Val354=) c.8370+134859A>G (n.8370+134859A>G) | |
2 | g.108907905A>T | CA427911807 | EDAR,RANBP2 | c.918T>A (p.Val306=) c.1014T>A (p.Val338=) c.1065T>A (p.Val355=) c.969T>A (p.Val323=) c.345T>A (p.Val115=) c.1158T>A (p.Val386=) c.1062T>A (p.Val354=) c.8370+134859A>T (n.8370+134859A>T) | |
2 | g.108907906A>C | CA348050844 | EDAR,RANBP2 | c.917T>G (p.Val306Gly) c.1013T>G (p.Val338Gly) c.1064T>G (p.Val355Gly) c.968T>G (p.Val323Gly) c.344T>G (p.Val115Gly) c.1157T>G (p.Val386Gly) c.1061T>G (p.Val354Gly) c.8370+134860A>C (n.8370+134860A>C) | |
2 | g.108907906A>G | CA348050846 | EDAR,RANBP2 | c.917T>C (p.Val306Ala) c.1013T>C (p.Val338Ala) c.1064T>C (p.Val355Ala) c.968T>C (p.Val323Ala) c.344T>C (p.Val115Ala) c.1157T>C (p.Val386Ala) c.1061T>C (p.Val354Ala) c.8370+134860A>G (n.8370+134860A>G) | |
2 | g.108907906A>T | CA348050847 | EDAR,RANBP2 | c.917T>A (p.Val306Asp) c.1013T>A (p.Val338Asp) c.1064T>A (p.Val355Asp) c.968T>A (p.Val323Asp) c.344T>A (p.Val115Asp) c.1157T>A (p.Val386Asp) c.1061T>A (p.Val354Asp) c.8370+134860A>T (n.8370+134860A>T) | |
2 | g.108907907C>A | CA348050936 | EDAR,RANBP2 | c.916G>T (p.Val306Phe) c.1012G>T (p.Val338Phe) c.1063G>T (p.Val355Phe) c.967G>T (p.Val323Phe) c.343G>T (p.Val115Phe) c.1156G>T (p.Val386Phe) c.1060G>T (p.Val354Phe) c.8370+134861C>A (n.8370+134861C>A) | |
2 | g.108907907C>G | CA348050935 | EDAR,RANBP2 | c.916G>C (p.Val306Leu) c.1012G>C (p.Val338Leu) c.1063G>C (p.Val355Leu) c.967G>C (p.Val323Leu) c.343G>C (p.Val115Leu) c.1156G>C (p.Val386Leu) c.1060G>C (p.Val354Leu) c.8370+134861C>G (n.8370+134861C>G) | |
2 | g.108907907C>T | CA348050934 | EDAR,RANBP2 | c.916G>A (p.Val306Ile) c.1012G>A (p.Val338Ile) c.1063G>A (p.Val355Ile) c.967G>A (p.Val323Ile) c.343G>A (p.Val115Ile) c.1156G>A (p.Val386Ile) c.1060G>A (p.Val354Ile) c.8370+134861C>T (n.8370+134861C>T) | gnomAD v4 |
2 | g.108907908C>A | CA427911910 | EDAR,RANBP2 | c.915G>T (p.Leu305=) c.1011G>T (p.Leu337=) c.1062G>T (p.Leu354=) c.966G>T (p.Leu322=) c.342G>T (p.Leu114=) c.1155G>T (p.Leu385=) c.1059G>T (p.Leu353=) c.8370+134862C>A (n.8370+134862C>A) | |
2 | g.108907908C>G | CA427911911 | EDAR,RANBP2 | c.915G>C (p.Leu305=) c.1011G>C (p.Leu337=) c.1062G>C (p.Leu354=) c.966G>C (p.Leu322=) c.342G>C (p.Leu114=) c.1155G>C (p.Leu385=) c.1059G>C (p.Leu353=) c.8370+134862C>G (n.8370+134862C>G) | |
2 | g.108907908C>T | CA427911912 | EDAR,RANBP2 | c.915G>A (p.Leu305=) c.1011G>A (p.Leu337=) c.1062G>A (p.Leu354=) c.966G>A (p.Leu322=) c.342G>A (p.Leu114=) c.1155G>A (p.Leu385=) c.1059G>A (p.Leu353=) c.8370+134862C>T (n.8370+134862C>T) | |
2 | g.108907909A>C | CA348050937 | EDAR,RANBP2 | c.914T>G (p.Leu305Arg) c.1010T>G (p.Leu337Arg) c.1061T>G (p.Leu354Arg) c.965T>G (p.Leu322Arg) c.341T>G (p.Leu114Arg) c.1154T>G (p.Leu385Arg) c.1058T>G (p.Leu353Arg) c.8370+134863A>C (n.8370+134863A>C) | |
2 | g.108907909A>G | CA348050938 | EDAR,RANBP2 | c.914T>C (p.Leu305Pro) c.1010T>C (p.Leu337Pro) c.1061T>C (p.Leu354Pro) c.965T>C (p.Leu322Pro) c.341T>C (p.Leu114Pro) c.1154T>C (p.Leu385Pro) c.1058T>C (p.Leu353Pro) c.8370+134863A>G (n.8370+134863A>G) | |
2 | g.108907909A>T | CA348050939 | EDAR,RANBP2 | c.914T>A (p.Leu305Gln) c.1010T>A (p.Leu337Gln) c.1061T>A (p.Leu354Gln) c.965T>A (p.Leu322Gln) c.341T>A (p.Leu114Gln) c.1154T>A (p.Leu385Gln) c.1058T>A (p.Leu353Gln) c.8370+134863A>T (n.8370+134863A>T) | |
2 | g.108907910G>A | CA427911913 | EDAR,RANBP2 | c.913C>T (p.Leu305=) c.1009C>T (p.Leu337=) c.1060C>T (p.Leu354=) c.964C>T (p.Leu322=) c.340C>T (p.Leu114=) c.1153C>T (p.Leu385=) c.1057C>T (p.Leu353=) c.8370+134864G>A (n.8370+134864G>A) | ClinVar gnomAD v4 |
2 | g.108907910G>C | CA348050940 | EDAR,RANBP2 | c.913C>G (p.Leu305Val) c.1009C>G (p.Leu337Val) c.1060C>G (p.Leu354Val) c.964C>G (p.Leu322Val) c.340C>G (p.Leu114Val) c.1153C>G (p.Leu385Val) c.1057C>G (p.Leu353Val) c.8370+134864G>C (n.8370+134864G>C) | gnomAD v4 |
2 | g.108907910G>T | CA348050941 | EDAR,RANBP2 | c.913C>A (p.Leu305Met) c.1009C>A (p.Leu337Met) c.1060C>A (p.Leu354Met) c.964C>A (p.Leu322Met) c.340C>A (p.Leu114Met) c.1153C>A (p.Leu385Met) c.1057C>A (p.Leu353Met) c.8370+134864G>T (n.8370+134864G>T) | gnomAD v4 |
2 | g.108907911C>A | CA427911914 | EDAR,RANBP2 | c.912G>T (p.Ser304=) c.1008G>T (p.Ser336=) c.1059G>T (p.Ser353=) c.963G>T (p.Ser321=) c.339G>T (p.Ser113=) c.1152G>T (p.Ser384=) c.1056G>T (p.Ser352=) c.8370+134865C>A (n.8370+134865C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108907911C= | CA1278358950 | EDAR,RANBP2 | c.912G= (p.Ser304=) c.1008G= (p.Ser336=) c.1059G= (p.Ser353=) c.963G= (p.Ser321=) c.339G= (p.Ser113=) c.1152G= (p.Ser384=) c.1056G= (p.Ser352=) c.8370+134865C= (n.8370+134865C=) | |
2 | g.108907911C>G | CA427911916 | EDAR,RANBP2 | c.912G>C (p.Ser304=) c.1008G>C (p.Ser336=) c.1059G>C (p.Ser353=) c.963G>C (p.Ser321=) c.339G>C (p.Ser113=) c.1152G>C (p.Ser384=) c.1056G>C (p.Ser352=) c.8370+134865C>G (n.8370+134865C>G) | |
2 | g.108907911C>T | CA427911915 | EDAR,RANBP2 | c.912G>A (p.Ser304=) c.1008G>A (p.Ser336=) c.1059G>A (p.Ser353=) c.963G>A (p.Ser321=) c.339G>A (p.Ser113=) c.1152G>A (p.Ser384=) c.1056G>A (p.Ser352=) c.8370+134865C>T (n.8370+134865C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108907912G>A | CA348050942 | EDAR,RANBP2 | c.911C>T (p.Ser304Leu) c.1007C>T (p.Ser336Leu) c.1058C>T (p.Ser353Leu) c.962C>T (p.Ser321Leu) c.338C>T (p.Ser113Leu) c.1151C>T (p.Ser384Leu) c.1055C>T (p.Ser352Leu) c.8370+134866G>A (n.8370+134866G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.108907912G>C | CA348050943 | EDAR,RANBP2 | c.911C>G (p.Ser304Trp) c.1007C>G (p.Ser336Trp) c.1058C>G (p.Ser353Trp) c.962C>G (p.Ser321Trp) c.338C>G (p.Ser113Trp) c.1151C>G (p.Ser384Trp) c.1055C>G (p.Ser352Trp) c.8370+134866G>C (n.8370+134866G>C) | dbSNP gnomAD v2 |
2 | g.108907912G= | CA1278358951 | EDAR,RANBP2 | c.911C= (p.Ser304=) c.1007C= (p.Ser336=) c.1058C= (p.Ser353=) c.962C= (p.Ser321=) c.338C= (p.Ser113=) c.1151C= (p.Ser384=) c.1055C= (p.Ser352=) c.8370+134866G= (n.8370+134866G=) | |
2 | g.108907912G>T | CA348050944 | EDAR,RANBP2 | c.911C>A (p.Ser304Ter) c.1007C>A (p.Ser336Ter) c.1058C>A (p.Ser353Ter) c.962C>A (p.Ser321Ter) c.338C>A (p.Ser113Ter) c.1151C>A (p.Ser384Ter) c.1055C>A (p.Ser352Ter) c.8370+134866G>T (n.8370+134866G>T) | gnomAD v4 |
2 | g.108907913A>C | CA348050945 | EDAR,RANBP2 | c.910T>G (p.Ser304Ala) c.1006T>G (p.Ser336Ala) c.1057T>G (p.Ser353Ala) c.961T>G (p.Ser321Ala) c.337T>G (p.Ser113Ala) c.1150T>G (p.Ser384Ala) c.1054T>G (p.Ser352Ala) c.8370+134867A>C (n.8370+134867A>C) | |
2 | g.108907913A>G | CA348050946 | EDAR,RANBP2 | c.910T>C (p.Ser304Pro) c.1006T>C (p.Ser336Pro) c.1057T>C (p.Ser353Pro) c.961T>C (p.Ser321Pro) c.337T>C (p.Ser113Pro) c.1150T>C (p.Ser384Pro) c.1054T>C (p.Ser352Pro) c.8370+134867A>G (n.8370+134867A>G) | |
2 | g.108907913A>T | CA348050947 | EDAR,RANBP2 | c.910T>A (p.Ser304Thr) c.1006T>A (p.Ser336Thr) c.1057T>A (p.Ser353Thr) c.961T>A (p.Ser321Thr) c.337T>A (p.Ser113Thr) c.1150T>A (p.Ser384Thr) c.1054T>A (p.Ser352Thr) c.8370+134867A>T (n.8370+134867A>T) | |
2 | g.108907914C>A | CA427911917 | EDAR,RANBP2 | c.909G>T (p.Leu303=) c.1005G>T (p.Leu335=) c.1056G>T (p.Leu352=) c.960G>T (p.Leu320=) c.336G>T (p.Leu112=) c.1149G>T (p.Leu383=) c.1053G>T (p.Leu351=) c.8370+134868C>A (n.8370+134868C>A) | |
2 | g.108907914C>G | CA427911918 | EDAR,RANBP2 | c.909G>C (p.Leu303=) c.1005G>C (p.Leu335=) c.1056G>C (p.Leu352=) c.960G>C (p.Leu320=) c.336G>C (p.Leu112=) c.1149G>C (p.Leu383=) c.1053G>C (p.Leu351=) c.8370+134868C>G (n.8370+134868C>G) | |
2 | g.108907914C>T | CA427911919 | EDAR,RANBP2 | c.909G>A (p.Leu303=) c.1005G>A (p.Leu335=) c.1056G>A (p.Leu352=) c.960G>A (p.Leu320=) c.336G>A (p.Leu112=) c.1149G>A (p.Leu383=) c.1053G>A (p.Leu351=) c.8370+134868C>T (n.8370+134868C>T) | |
2 | g.108907915A= | CA1278358952 | EDAR,RANBP2 | c.908T= (p.Leu303=) c.1004T= (p.Leu335=) c.1055T= (p.Leu352=) c.959T= (p.Leu320=) c.335T= (p.Leu112=) c.1148T= (p.Leu383=) c.1052T= (p.Leu351=) c.8370+134869A= (n.8370+134869A=) | |
2 | g.108907915A>C | CA348050950 | EDAR,RANBP2 | c.908T>G (p.Leu303Arg) c.1004T>G (p.Leu335Arg) c.1055T>G (p.Leu352Arg) c.959T>G (p.Leu320Arg) c.335T>G (p.Leu112Arg) c.1148T>G (p.Leu383Arg) c.1052T>G (p.Leu351Arg) c.8370+134869A>C (n.8370+134869A>C) | |
2 | g.108907915A>G | CA348050949 | EDAR,RANBP2 | c.908T>C (p.Leu303Pro) c.1004T>C (p.Leu335Pro) c.1055T>C (p.Leu352Pro) c.959T>C (p.Leu320Pro) c.335T>C (p.Leu112Pro) c.1148T>C (p.Leu383Pro) c.1052T>C (p.Leu351Pro) c.8370+134869A>G (n.8370+134869A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108907915A>T | CA348050948 | EDAR,RANBP2 | c.908T>A (p.Leu303Gln) c.1004T>A (p.Leu335Gln) c.1055T>A (p.Leu352Gln) c.959T>A (p.Leu320Gln) c.335T>A (p.Leu112Gln) c.1148T>A (p.Leu383Gln) c.1052T>A (p.Leu351Gln) c.8370+134869A>T (n.8370+134869A>T) | |
2 | g.108907916G>A | CA427911920 | EDAR,RANBP2 | c.907C>T (p.Leu303=) c.1003C>T (p.Leu335=) c.1054C>T (p.Leu352=) c.958C>T (p.Leu320=) c.334C>T (p.Leu112=) c.1147C>T (p.Leu383=) c.1051C>T (p.Leu351=) c.8370+134870G>A (n.8370+134870G>A) | |
2 | g.108907916G>C | CA348050951 | EDAR,RANBP2 | c.907C>G (p.Leu303Val) c.1003C>G (p.Leu335Val) c.1054C>G (p.Leu352Val) c.958C>G (p.Leu320Val) c.334C>G (p.Leu112Val) c.1147C>G (p.Leu383Val) c.1051C>G (p.Leu351Val) c.8370+134870G>C (n.8370+134870G>C) | |
2 | g.108907916G>T | CA348050952 | EDAR,RANBP2 | c.907C>A (p.Leu303Met) c.1003C>A (p.Leu335Met) c.1054C>A (p.Leu352Met) c.958C>A (p.Leu320Met) c.334C>A (p.Leu112Met) c.1147C>A (p.Leu383Met) c.1051C>A (p.Leu351Met) c.8370+134870G>T (n.8370+134870G>T) | |
2 | g.108907917C>A | CA427911921 | EDAR,RANBP2 | c.906G>T (p.Leu302=) c.1002G>T (p.Leu334=) c.1053G>T (p.Leu351=) c.957G>T (p.Leu319=) c.333G>T (p.Leu111=) c.1146G>T (p.Leu382=) c.1050G>T (p.Leu350=) c.8370+134871C>A (n.8370+134871C>A) | |
2 | g.108907917C>G | CA427911922 | EDAR,RANBP2 | c.906G>C (p.Leu302=) c.1002G>C (p.Leu334=) c.1053G>C (p.Leu351=) c.957G>C (p.Leu319=) c.333G>C (p.Leu111=) c.1146G>C (p.Leu382=) c.1050G>C (p.Leu350=) c.8370+134871C>G (n.8370+134871C>G) | |
2 | g.108907917C>T | CA427911923 | EDAR,RANBP2 | c.906G>A (p.Leu302=) c.1002G>A (p.Leu334=) c.1053G>A (p.Leu351=) c.957G>A (p.Leu319=) c.333G>A (p.Leu111=) c.1146G>A (p.Leu382=) c.1050G>A (p.Leu350=) c.8370+134871C>T (n.8370+134871C>T) | |
2 | g.108907918A>C | CA348050953 | EDAR,RANBP2 | c.905T>G (p.Leu302Arg) c.1001T>G (p.Leu334Arg) c.1052T>G (p.Leu351Arg) c.956T>G (p.Leu319Arg) c.332T>G (p.Leu111Arg) c.1145T>G (p.Leu382Arg) c.1049T>G (p.Leu350Arg) c.8370+134872A>C (n.8370+134872A>C) | |
2 | g.108907918A>G | CA348050954 | EDAR,RANBP2 | c.905T>C (p.Leu302Pro) c.1001T>C (p.Leu334Pro) c.1052T>C (p.Leu351Pro) c.956T>C (p.Leu319Pro) c.332T>C (p.Leu111Pro) c.1145T>C (p.Leu382Pro) c.1049T>C (p.Leu350Pro) c.8370+134872A>G (n.8370+134872A>G) | |
2 | g.108907918A>T | CA348050955 | EDAR,RANBP2 | c.905T>A (p.Leu302Gln) c.1001T>A (p.Leu334Gln) c.1052T>A (p.Leu351Gln) c.956T>A (p.Leu319Gln) c.332T>A (p.Leu111Gln) c.1145T>A (p.Leu382Gln) c.1049T>A (p.Leu350Gln) c.8370+134872A>T (n.8370+134872A>T) | |
2 | g.108907919G>A | CA427911924 | EDAR,RANBP2 | c.904C>T (p.Leu302=) c.1000C>T (p.Leu334=) c.1051C>T (p.Leu351=) c.955C>T (p.Leu319=) c.331C>T (p.Leu111=) c.1144C>T (p.Leu382=) c.1048C>T (p.Leu350=) c.8370+134873G>A (n.8370+134873G>A) | |
2 | g.108907919G>C | CA348050956 | EDAR,RANBP2 | c.904C>G (p.Leu302Val) c.1000C>G (p.Leu334Val) c.1051C>G (p.Leu351Val) c.955C>G (p.Leu319Val) c.331C>G (p.Leu111Val) c.1144C>G (p.Leu382Val) c.1048C>G (p.Leu350Val) c.8370+134873G>C (n.8370+134873G>C) | |
2 | g.108907919G>T | CA348050957 | EDAR,RANBP2 | c.904C>A (p.Leu302Met) c.1000C>A (p.Leu334Met) c.1051C>A (p.Leu351Met) c.955C>A (p.Leu319Met) c.331C>A (p.Leu111Met) c.1144C>A (p.Leu382Met) c.1048C>A (p.Leu350Met) c.8370+134873G>T (n.8370+134873G>T) | |
2 | g.108907920G>A | CA427911925 | EDAR,RANBP2 | c.903C>T (p.Cys301=) c.999C>T (p.Cys333=) c.1050C>T (p.Cys350=) c.954C>T (p.Cys318=) c.330C>T (p.Cys110=) c.1143C>T (p.Cys381=) c.1047C>T (p.Cys349=) c.8370+134874G>A (n.8370+134874G>A) | dbSNP gnomAD v4 |
2 | g.108907920G>C | CA348050958 | EDAR,RANBP2 | c.903C>G (p.Cys301Trp) c.999C>G (p.Cys333Trp) c.1050C>G (p.Cys350Trp) c.954C>G (p.Cys318Trp) c.330C>G (p.Cys110Trp) c.1143C>G (p.Cys381Trp) c.1047C>G (p.Cys349Trp) c.8370+134874G>C (n.8370+134874G>C) | |
2 | g.108907920G= | CA1278358953 | EDAR,RANBP2 | c.903C= (p.Cys301=) c.999C= (p.Cys333=) c.1050C= (p.Cys350=) c.954C= (p.Cys318=) c.330C= (p.Cys110=) c.1143C= (p.Cys381=) c.1047C= (p.Cys349=) c.8370+134874G= (n.8370+134874G=) | |
2 | g.108907920G>T | CA1824889 | EDAR,RANBP2 | c.903C>A (p.Cys301Ter) c.999C>A (p.Cys333Ter) c.1050C>A (p.Cys350Ter) c.954C>A (p.Cys318Ter) c.330C>A (p.Cys110Ter) c.1143C>A (p.Cys381Ter) c.1047C>A (p.Cys349Ter) c.8370+134874G>T (n.8370+134874G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907921C>A | CA348050959 | EDAR,RANBP2 | c.902G>T (p.Cys301Phe) c.998G>T (p.Cys333Phe) c.1049G>T (p.Cys350Phe) c.953G>T (p.Cys318Phe) c.329G>T (p.Cys110Phe) c.1142G>T (p.Cys381Phe) c.1046G>T (p.Cys349Phe) c.8370+134875C>A (n.8370+134875C>A) | |
2 | g.108907921C>G | CA348050960 | EDAR,RANBP2 | c.902G>C (p.Cys301Ser) c.998G>C (p.Cys333Ser) c.1049G>C (p.Cys350Ser) c.953G>C (p.Cys318Ser) c.329G>C (p.Cys110Ser) c.1142G>C (p.Cys381Ser) c.1046G>C (p.Cys349Ser) c.8370+134875C>G (n.8370+134875C>G) | |
2 | g.108907921C>T | CA348050961 | EDAR,RANBP2 | c.902G>A (p.Cys301Tyr) c.998G>A (p.Cys333Tyr) c.1049G>A (p.Cys350Tyr) c.953G>A (p.Cys318Tyr) c.329G>A (p.Cys110Tyr) c.1142G>A (p.Cys381Tyr) c.1046G>A (p.Cys349Tyr) c.8370+134875C>T (n.8370+134875C>T) | COSMIC COSMIC |
2 | g.108907922A>C | CA348050964 | EDAR,RANBP2 | c.901T>G (p.Cys301Gly) c.997T>G (p.Cys333Gly) c.1048T>G (p.Cys350Gly) c.952T>G (p.Cys318Gly) c.328T>G (p.Cys110Gly) c.1141T>G (p.Cys381Gly) c.1045T>G (p.Cys349Gly) c.8370+134876A>C (n.8370+134876A>C) | |
2 | g.108907922A>G | CA348050963 | EDAR,RANBP2 | c.901T>C (p.Cys301Arg) c.997T>C (p.Cys333Arg) c.1048T>C (p.Cys350Arg) c.952T>C (p.Cys318Arg) c.328T>C (p.Cys110Arg) c.1141T>C (p.Cys381Arg) c.1045T>C (p.Cys349Arg) c.8370+134876A>G (n.8370+134876A>G) | |
2 | g.108907922A>T | CA348050962 | EDAR,RANBP2 | c.901T>A (p.Cys301Ser) c.997T>A (p.Cys333Ser) c.1048T>A (p.Cys350Ser) c.952T>A (p.Cys318Ser) c.328T>A (p.Cys110Ser) c.1141T>A (p.Cys381Ser) c.1045T>A (p.Cys349Ser) c.8370+134876A>T (n.8370+134876A>T) | |
2 | g.108907923C>A | CA427911926 | EDAR,RANBP2 | c.900G>T (p.Leu300=) c.996G>T (p.Leu332=) c.1047G>T (p.Leu349=) c.951G>T (p.Leu317=) c.327G>T (p.Leu109=) c.1140G>T (p.Leu380=) c.1044G>T (p.Leu348=) c.8370+134877C>A (n.8370+134877C>A) | |
2 | g.108907923C= | CA1278358954 | EDAR,RANBP2 | c.900G= (p.Leu300=) c.996G= (p.Leu332=) c.1047G= (p.Leu349=) c.951G= (p.Leu317=) c.327G= (p.Leu109=) c.1140G= (p.Leu380=) c.1044G= (p.Leu348=) c.8370+134877C= (n.8370+134877C=) | |
2 | g.108907923C>G | CA427911927 | EDAR,RANBP2 | c.900G>C (p.Leu300=) c.996G>C (p.Leu332=) c.1047G>C (p.Leu349=) c.951G>C (p.Leu317=) c.327G>C (p.Leu109=) c.1140G>C (p.Leu380=) c.1044G>C (p.Leu348=) c.8370+134877C>G (n.8370+134877C>G) | |
2 | g.108907923C>T | CA53473282 | EDAR,RANBP2 | c.900G>A (p.Leu300=) c.996G>A (p.Leu332=) c.1047G>A (p.Leu349=) c.951G>A (p.Leu317=) c.327G>A (p.Leu109=) c.1140G>A (p.Leu380=) c.1044G>A (p.Leu348=) c.8370+134877C>T (n.8370+134877C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907924A>C | CA348050967 | EDAR,RANBP2 | c.899T>G (p.Leu300Arg) c.995T>G (p.Leu332Arg) c.1046T>G (p.Leu349Arg) c.950T>G (p.Leu317Arg) c.326T>G (p.Leu109Arg) c.1139T>G (p.Leu380Arg) c.1043T>G (p.Leu348Arg) c.8370+134878A>C (n.8370+134878A>C) | |
2 | g.108907924A>G | CA348050965 | EDAR,RANBP2 | c.899T>C (p.Leu300Pro) c.995T>C (p.Leu332Pro) c.1046T>C (p.Leu349Pro) c.950T>C (p.Leu317Pro) c.326T>C (p.Leu109Pro) c.1139T>C (p.Leu380Pro) c.1043T>C (p.Leu348Pro) c.8370+134878A>G (n.8370+134878A>G) | gnomAD v4 |
2 | g.108907924A>T | CA348050966 | EDAR,RANBP2 | c.899T>A (p.Leu300Gln) c.995T>A (p.Leu332Gln) c.1046T>A (p.Leu349Gln) c.950T>A (p.Leu317Gln) c.326T>A (p.Leu109Gln) c.1139T>A (p.Leu380Gln) c.1043T>A (p.Leu348Gln) c.8370+134878A>T (n.8370+134878A>T) | |
2 | g.108907925G>A | CA427911928 | EDAR,RANBP2 | c.898C>T (p.Leu300=) c.994C>T (p.Leu332=) c.1045C>T (p.Leu349=) c.949C>T (p.Leu317=) c.325C>T (p.Leu109=) c.1138C>T (p.Leu380=) c.1042C>T (p.Leu348=) c.8370+134879G>A (n.8370+134879G>A) | |
2 | g.108907925G>C | CA348050968 | EDAR,RANBP2 | c.898C>G (p.Leu300Val) c.994C>G (p.Leu332Val) c.1045C>G (p.Leu349Val) c.949C>G (p.Leu317Val) c.325C>G (p.Leu109Val) c.1138C>G (p.Leu380Val) c.1042C>G (p.Leu348Val) c.8370+134879G>C (n.8370+134879G>C) | |
2 | g.108907925G>T | CA348050969 | EDAR,RANBP2 | c.898C>A (p.Leu300Met) c.994C>A (p.Leu332Met) c.1045C>A (p.Leu349Met) c.949C>A (p.Leu317Met) c.325C>A (p.Leu109Met) c.1138C>A (p.Leu380Met) c.1042C>A (p.Leu348Met) c.8370+134879G>T (n.8370+134879G>T) | |
2 | g.108907926C>A | CA348050970 | EDAR,RANBP2 | c.897G>T (p.Glu299Asp) c.993G>T (p.Glu331Asp) c.1044G>T (p.Glu348Asp) c.948G>T (p.Glu316Asp) c.324G>T (p.Glu108Asp) c.1137G>T (p.Glu379Asp) c.1041G>T (p.Glu347Asp) c.8370+134880C>A (n.8370+134880C>A) | |
2 | g.108907926C= | CA1278358955 | EDAR,RANBP2 | c.897G= (p.Glu299=) c.993G= (p.Glu331=) c.1044G= (p.Glu348=) c.948G= (p.Glu316=) c.324G= (p.Glu108=) c.1137G= (p.Glu379=) c.1041G= (p.Glu347=) c.8370+134880C= (n.8370+134880C=) | |
2 | g.108907926C>G | CA348050971 | EDAR,RANBP2 | c.897G>C (p.Glu299Asp) c.993G>C (p.Glu331Asp) c.1044G>C (p.Glu348Asp) c.948G>C (p.Glu316Asp) c.324G>C (p.Glu108Asp) c.1137G>C (p.Glu379Asp) c.1041G>C (p.Glu347Asp) c.8370+134880C>G (n.8370+134880C>G) | |
2 | g.108907926C>T | CA1824890 | EDAR,RANBP2 | c.897G>A (p.Glu299=) c.993G>A (p.Glu331=) c.1044G>A (p.Glu348=) c.948G>A (p.Glu316=) c.324G>A (p.Glu108=) c.1137G>A (p.Glu379=) c.1041G>A (p.Glu347=) c.8370+134880C>T (n.8370+134880C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907927T>A | CA348050972 | EDAR,RANBP2 | c.896A>T (p.Glu299Val) c.992A>T (p.Glu331Val) c.1043A>T (p.Glu348Val) c.947A>T (p.Glu316Val) c.323A>T (p.Glu108Val) c.1136A>T (p.Glu379Val) c.1040A>T (p.Glu347Val) c.8370+134881T>A (n.8370+134881T>A) | gnomAD v4 |
2 | g.108907927T>C | CA348050973 | EDAR,RANBP2 | c.896A>G (p.Glu299Gly) c.992A>G (p.Glu331Gly) c.1043A>G (p.Glu348Gly) c.947A>G (p.Glu316Gly) c.323A>G (p.Glu108Gly) c.1136A>G (p.Glu379Gly) c.1040A>G (p.Glu347Gly) c.8370+134881T>C (n.8370+134881T>C) | |
2 | g.108907927T>G | CA348050974 | EDAR,RANBP2 | c.896A>C (p.Glu299Ala) c.992A>C (p.Glu331Ala) c.1043A>C (p.Glu348Ala) c.947A>C (p.Glu316Ala) c.323A>C (p.Glu108Ala) c.1136A>C (p.Glu379Ala) c.1040A>C (p.Glu347Ala) c.8370+134881T>G (n.8370+134881T>G) | |
2 | g.108907928C>A | CA348050975 | EDAR,RANBP2 | c.895G>T (p.Glu299Ter) c.991G>T (p.Glu331Ter) c.1042G>T (p.Glu348Ter) c.946G>T (p.Glu316Ter) c.322G>T (p.Glu108Ter) c.1135G>T (p.Glu379Ter) c.1039G>T (p.Glu347Ter) c.8370+134882C>A (n.8370+134882C>A) | |
2 | g.108907928C= | CA1278358956 | EDAR,RANBP2 | c.895G= (p.Glu299=) c.991G= (p.Glu331=) c.1042G= (p.Glu348=) c.946G= (p.Glu316=) c.322G= (p.Glu108=) c.1135G= (p.Glu379=) c.1039G= (p.Glu347=) c.8370+134882C= (n.8370+134882C=) | |
2 | g.108907928C>G | CA1824891 | EDAR,RANBP2 | c.895G>C (p.Glu299Gln) c.991G>C (p.Glu331Gln) c.1042G>C (p.Glu348Gln) c.946G>C (p.Glu316Gln) c.322G>C (p.Glu108Gln) c.1135G>C (p.Glu379Gln) c.1039G>C (p.Glu347Gln) c.8370+134882C>G (n.8370+134882C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108907928C>T | CA348050976 | EDAR,RANBP2 | c.895G>A (p.Glu299Lys) c.991G>A (p.Glu331Lys) c.1042G>A (p.Glu348Lys) c.946G>A (p.Glu316Lys) c.322G>A (p.Glu108Lys) c.1135G>A (p.Glu379Lys) c.1039G>A (p.Glu347Lys) c.8370+134882C>T (n.8370+134882C>T) | COSMIC COSMIC |
2 | g.108907929C>A | CA427911930 | EDAR,RANBP2 | c.894G>T (p.Pro298=) c.990G>T (p.Pro330=) c.1041G>T (p.Pro347=) c.945G>T (p.Pro315=) c.321G>T (p.Pro107=) c.1134G>T (p.Pro378=) c.1038G>T (p.Pro346=) c.8370+134883C>A (n.8370+134883C>A) | |
2 | g.108907929C= | CA1278358957 | EDAR,RANBP2 | c.894G= (p.Pro298=) c.990G= (p.Pro330=) c.1041G= (p.Pro347=) c.945G= (p.Pro315=) c.321G= (p.Pro107=) c.1134G= (p.Pro378=) c.1038G= (p.Pro346=) c.8370+134883C= (n.8370+134883C=) | |
2 | g.108907929C>G | CA427911931 | EDAR,RANBP2 | c.894G>C (p.Pro298=) c.990G>C (p.Pro330=) c.1041G>C (p.Pro347=) c.945G>C (p.Pro315=) c.321G>C (p.Pro107=) c.1134G>C (p.Pro378=) c.1038G>C (p.Pro346=) c.8370+134883C>G (n.8370+134883C>G) | |
2 | g.108907929C>T | CA1824892 | EDAR,RANBP2 | c.894G>A (p.Pro298=) c.990G>A (p.Pro330=) c.1041G>A (p.Pro347=) c.945G>A (p.Pro315=) c.321G>A (p.Pro107=) c.1134G>A (p.Pro378=) c.1038G>A (p.Pro346=) c.8370+134883C>T (n.8370+134883C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907930G>A | CA1824894 | EDAR,RANBP2 | c.893C>T (p.Pro298Leu) c.989C>T (p.Pro330Leu) c.1040C>T (p.Pro347Leu) c.944C>T (p.Pro315Leu) c.320C>T (p.Pro107Leu) c.1133C>T (p.Pro378Leu) c.1037C>T (p.Pro346Leu) c.8370+134884G>A (n.8370+134884G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108907930G>C | CA1824893 | EDAR,RANBP2 | c.893C>G (p.Pro298Arg) c.989C>G (p.Pro330Arg) c.1040C>G (p.Pro347Arg) c.944C>G (p.Pro315Arg) c.320C>G (p.Pro107Arg) c.1133C>G (p.Pro378Arg) c.1037C>G (p.Pro346Arg) c.8370+134884G>C (n.8370+134884G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907930G= | CA1278358958 | EDAR,RANBP2 | c.893C= (p.Pro298=) c.989C= (p.Pro330=) c.1040C= (p.Pro347=) c.944C= (p.Pro315=) c.320C= (p.Pro107=) c.1133C= (p.Pro378=) c.1037C= (p.Pro346=) c.8370+134884G= (n.8370+134884G=) | |
2 | g.108907930G>T | CA348050977 | EDAR,RANBP2 | c.893C>A (p.Pro298Gln) c.989C>A (p.Pro330Gln) c.1040C>A (p.Pro347Gln) c.944C>A (p.Pro315Gln) c.320C>A (p.Pro107Gln) c.1133C>A (p.Pro378Gln) c.1037C>A (p.Pro346Gln) c.8370+134884G>T (n.8370+134884G>T) | gnomAD v4 |
2 | g.108907931G>A | CA348050978 | EDAR,RANBP2 | c.892C>T (p.Pro298Ser) c.988C>T (p.Pro330Ser) c.1039C>T (p.Pro347Ser) c.943C>T (p.Pro315Ser) c.319C>T (p.Pro107Ser) c.1132C>T (p.Pro378Ser) c.1036C>T (p.Pro346Ser) c.8370+134885G>A (n.8370+134885G>A) | |
2 | g.108907931G>C | CA348050979 | EDAR,RANBP2 | c.892C>G (p.Pro298Ala) c.988C>G (p.Pro330Ala) c.1039C>G (p.Pro347Ala) c.943C>G (p.Pro315Ala) c.319C>G (p.Pro107Ala) c.1132C>G (p.Pro378Ala) c.1036C>G (p.Pro346Ala) c.8370+134885G>C (n.8370+134885G>C) | |
2 | g.108907931G>T | CA348050980 | EDAR,RANBP2 | c.892C>A (p.Pro298Thr) c.988C>A (p.Pro330Thr) c.1039C>A (p.Pro347Thr) c.943C>A (p.Pro315Thr) c.319C>A (p.Pro107Thr) c.1132C>A (p.Pro378Thr) c.1036C>A (p.Pro346Thr) c.8370+134885G>T (n.8370+134885G>T) | |
2 | g.108907932G>A | CA427911932 | EDAR,RANBP2 | c.891C>T (p.Ser297=) c.987C>T (p.Ser329=) c.1038C>T (p.Ser346=) c.942C>T (p.Ser314=) c.318C>T (p.Ser106=) c.1131C>T (p.Ser377=) c.1035C>T (p.Ser345=) c.8370+134886G>A (n.8370+134886G>A) | gnomAD v4 |
2 | g.108907932G>C | CA427911933 | EDAR,RANBP2 | c.891C>G (p.Ser297=) c.987C>G (p.Ser329=) c.1038C>G (p.Ser346=) c.942C>G (p.Ser314=) c.318C>G (p.Ser106=) c.1131C>G (p.Ser377=) c.1035C>G (p.Ser345=) c.8370+134886G>C (n.8370+134886G>C) | |
2 | g.108907932G>T | CA427911934 | EDAR,RANBP2 | c.891C>A (p.Ser297=) c.987C>A (p.Ser329=) c.1038C>A (p.Ser346=) c.942C>A (p.Ser314=) c.318C>A (p.Ser106=) c.1131C>A (p.Ser377=) c.1035C>A (p.Ser345=) c.8370+134886G>T (n.8370+134886G>T) | |
2 | g.108907933G>A | CA1824895 | EDAR,RANBP2 | c.890C>T (p.Ser297Phe) c.986C>T (p.Ser329Phe) c.1037C>T (p.Ser346Phe) c.941C>T (p.Ser314Phe) c.317C>T (p.Ser106Phe) c.1130C>T (p.Ser377Phe) c.1034C>T (p.Ser345Phe) c.8370+134887G>A (n.8370+134887G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.108907933G>C | CA348050981 | EDAR,RANBP2 | c.890C>G (p.Ser297Cys) c.986C>G (p.Ser329Cys) c.1037C>G (p.Ser346Cys) c.941C>G (p.Ser314Cys) c.317C>G (p.Ser106Cys) c.1130C>G (p.Ser377Cys) c.1034C>G (p.Ser345Cys) c.8370+134887G>C (n.8370+134887G>C) | gnomAD v4 |
2 | g.108907933G= | CA1278358959 | EDAR,RANBP2 | c.890C= (p.Ser297=) c.986C= (p.Ser329=) c.1037C= (p.Ser346=) c.941C= (p.Ser314=) c.317C= (p.Ser106=) c.1130C= (p.Ser377=) c.1034C= (p.Ser345=) c.8370+134887G= (n.8370+134887G=) | |
2 | g.108907933G>T | CA348050982 | EDAR,RANBP2 | c.890C>A (p.Ser297Tyr) c.986C>A (p.Ser329Tyr) c.1037C>A (p.Ser346Tyr) c.941C>A (p.Ser314Tyr) c.317C>A (p.Ser106Tyr) c.1130C>A (p.Ser377Tyr) c.1034C>A (p.Ser345Tyr) c.8370+134887G>T (n.8370+134887G>T) | gnomAD v4 |
2 | g.108907933_108907940delinsGAGCCCTG | CA1278358960 | EDAR,RANBP2 | c.883_890delinsCAGGGCTC (p.Gln295=) c.979_986delinsCAGGGCTC (p.Gln327=) c.1030_1037delinsCAGGGCTC (p.Gln344=) c.934_941delinsCAGGGCTC (p.Gln312=) c.310_317delinsCAGGGCTC (p.Gln104=) c.1123_1130delinsCAGGGCTC (p.Gln375=) c.1027_1034delinsCAGGGCTC (p.Gln343=) c.8370+134887_8370+134894delinsGAGCCCTG (n.8370+134887_8370+134894delinsGAGCCCTG) | |
2 | g.108907934A>C | CA348050983 | EDAR,RANBP2 | c.889T>G (p.Ser297Ala) c.985T>G (p.Ser329Ala) c.1036T>G (p.Ser346Ala) c.940T>G (p.Ser314Ala) c.316T>G (p.Ser106Ala) c.1129T>G (p.Ser377Ala) c.1033T>G (p.Ser345Ala) c.8370+134888A>C (n.8370+134888A>C) | |
2 | g.108907934A>G | CA348050984 | EDAR,RANBP2 | c.889T>C (p.Ser297Pro) c.985T>C (p.Ser329Pro) c.1036T>C (p.Ser346Pro) c.940T>C (p.Ser314Pro) c.316T>C (p.Ser106Pro) c.1129T>C (p.Ser377Pro) c.1033T>C (p.Ser345Pro) c.8370+134888A>G (n.8370+134888A>G) | gnomAD v4 |
2 | g.108907934A>T | CA348050985 | EDAR,RANBP2 | c.889T>A (p.Ser297Thr) c.985T>A (p.Ser329Thr) c.1036T>A (p.Ser346Thr) c.940T>A (p.Ser314Thr) c.316T>A (p.Ser106Thr) c.1129T>A (p.Ser377Thr) c.1033T>A (p.Ser345Thr) c.8370+134888A>T (n.8370+134888A>T) | |
2 | g.108907934_108907940delinsCGGGCTCCTCATCA | CA16617225 | EDAR,RANBP2 | c.883_889delinsTGATGAGGAGCCCG (p.Gln295Ter) c.979_985delinsTGATGAGGAGCCCG (p.Gln327Ter) c.1030_1036delinsTGATGAGGAGCCCG (p.Gln344Ter) c.934_940delinsTGATGAGGAGCCCG (p.Gln312Ter) c.310_316delinsTGATGAGGAGCCCG (p.Gln104Ter) c.1123_1129delinsTGATGAGGAGCCCG (p.Gln375Ter) c.1027_1033delinsTGATGAGGAGCCCG (p.Gln343Ter) c.8370+134888_8370+134894delinsCGGGCTCCTCATCA (n.8370+134888_8370+134894delinsCGGGCTCCTCATCA) | ClinVar dbSNP |
2 | g.108907935G>A | CA427911935 | EDAR,RANBP2 | c.888C>T (p.Gly296=) c.984C>T (p.Gly328=) c.1035C>T (p.Gly345=) c.939C>T (p.Gly313=) c.315C>T (p.Gly105=) c.1128C>T (p.Gly376=) c.1032C>T (p.Gly344=) c.8370+134889G>A (n.8370+134889G>A) | gnomAD v4 |
2 | g.108907935G>C | CA427911936 | EDAR,RANBP2 | c.888C>G (p.Gly296=) c.984C>G (p.Gly328=) c.1035C>G (p.Gly345=) c.939C>G (p.Gly313=) c.315C>G (p.Gly105=) c.1128C>G (p.Gly376=) c.1032C>G (p.Gly344=) c.8370+134889G>C (n.8370+134889G>C) | |
2 | g.108907935G>T | CA427911937 | EDAR,RANBP2 | c.888C>A (p.Gly296=) c.984C>A (p.Gly328=) c.1035C>A (p.Gly345=) c.939C>A (p.Gly313=) c.315C>A (p.Gly105=) c.1128C>A (p.Gly376=) c.1032C>A (p.Gly344=) c.8370+134889G>T (n.8370+134889G>T) | gnomAD v4 |
2 | g.108907936C>A | CA53473309 | EDAR,RANBP2 | c.887G>T (p.Gly296Val) c.983G>T (p.Gly328Val) c.1034G>T (p.Gly345Val) c.938G>T (p.Gly313Val) c.314G>T (p.Gly105Val) c.1127G>T (p.Gly376Val) c.1031G>T (p.Gly344Val) c.8370+134890C>A (n.8370+134890C>A) | dbSNP |
2 | g.108907936C= | CA1278358961 | EDAR,RANBP2 | c.887G= (p.Gly296=) c.983G= (p.Gly328=) c.1034G= (p.Gly345=) c.938G= (p.Gly313=) c.314G= (p.Gly105=) c.1127G= (p.Gly376=) c.1031G= (p.Gly344=) c.8370+134890C= (n.8370+134890C=) | |
2 | g.108907936C>G | CA348050987 | EDAR,RANBP2 | c.887G>C (p.Gly296Ala) c.983G>C (p.Gly328Ala) c.1034G>C (p.Gly345Ala) c.938G>C (p.Gly313Ala) c.314G>C (p.Gly105Ala) c.1127G>C (p.Gly376Ala) c.1031G>C (p.Gly344Ala) c.8370+134890C>G (n.8370+134890C>G) | |
2 | g.108907936C>T | CA348050986 | EDAR,RANBP2 | c.887G>A (p.Gly296Asp) c.983G>A (p.Gly328Asp) c.1034G>A (p.Gly345Asp) c.938G>A (p.Gly313Asp) c.314G>A (p.Gly105Asp) c.1127G>A (p.Gly376Asp) c.1031G>A (p.Gly344Asp) c.8370+134890C>T (n.8370+134890C>T) | |
2 | g.108907937C>A | CA348050988 | EDAR,RANBP2 | c.886G>T (p.Gly296Cys) c.982G>T (p.Gly328Cys) c.1033G>T (p.Gly345Cys) c.937G>T (p.Gly313Cys) c.313G>T (p.Gly105Cys) c.1126G>T (p.Gly376Cys) c.1030G>T (p.Gly344Cys) c.8370+134891C>A (n.8370+134891C>A) | |
2 | g.108907937C= | CA1278358962 | EDAR,RANBP2 | c.886G= (p.Gly296=) c.982G= (p.Gly328=) c.1033G= (p.Gly345=) c.937G= (p.Gly313=) c.313G= (p.Gly105=) c.1126G= (p.Gly376=) c.1030G= (p.Gly344=) c.8370+134891C= (n.8370+134891C=) | |
2 | g.108907937C>G | CA1824896 | EDAR,RANBP2 | c.886G>C (p.Gly296Arg) c.982G>C (p.Gly328Arg) c.1033G>C (p.Gly345Arg) c.937G>C (p.Gly313Arg) c.313G>C (p.Gly105Arg) c.1126G>C (p.Gly376Arg) c.1030G>C (p.Gly344Arg) c.8370+134891C>G (n.8370+134891C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907937C>T | CA348050989 | EDAR,RANBP2 | c.886G>A (p.Gly296Ser) c.982G>A (p.Gly328Ser) c.1033G>A (p.Gly345Ser) c.937G>A (p.Gly313Ser) c.313G>A (p.Gly105Ser) c.1126G>A (p.Gly376Ser) c.1030G>A (p.Gly344Ser) c.8370+134891C>T (n.8370+134891C>T) | |
2 | g.108907938C>A | CA348050990 | EDAR,RANBP2 | c.885G>T (p.Gln295His) c.981G>T (p.Gln327His) c.1032G>T (p.Gln344His) c.936G>T (p.Gln312His) c.312G>T (p.Gln104His) c.1125G>T (p.Gln375His) c.1029G>T (p.Gln343His) c.8370+134892C>A (n.8370+134892C>A) | |
2 | g.108907938C>G | CA348050991 | EDAR,RANBP2 | c.885G>C (p.Gln295His) c.981G>C (p.Gln327His) c.1032G>C (p.Gln344His) c.936G>C (p.Gln312His) c.312G>C (p.Gln104His) c.1125G>C (p.Gln375His) c.1029G>C (p.Gln343His) c.8370+134892C>G (n.8370+134892C>G) | |
2 | g.108907938C>T | CA427911938 | EDAR,RANBP2 | c.885G>A (p.Gln295=) c.981G>A (p.Gln327=) c.1032G>A (p.Gln344=) c.936G>A (p.Gln312=) c.312G>A (p.Gln104=) c.1125G>A (p.Gln375=) c.1029G>A (p.Gln343=) c.8370+134892C>T (n.8370+134892C>T) | |
2 | g.108907939T>A | CA348050992 | EDAR,RANBP2 | c.884A>T (p.Gln295Leu) c.980A>T (p.Gln327Leu) c.1031A>T (p.Gln344Leu) c.935A>T (p.Gln312Leu) c.311A>T (p.Gln104Leu) c.1124A>T (p.Gln375Leu) c.1028A>T (p.Gln343Leu) c.8370+134893T>A (n.8370+134893T>A) | |
2 | g.108907939T>C | CA348050993 | EDAR,RANBP2 | c.884A>G (p.Gln295Arg) c.980A>G (p.Gln327Arg) c.1031A>G (p.Gln344Arg) c.935A>G (p.Gln312Arg) c.311A>G (p.Gln104Arg) c.1124A>G (p.Gln375Arg) c.1028A>G (p.Gln343Arg) c.8370+134893T>C (n.8370+134893T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108907939T>G | CA348050994 | EDAR,RANBP2 | c.884A>C (p.Gln295Pro) c.980A>C (p.Gln327Pro) c.1031A>C (p.Gln344Pro) c.935A>C (p.Gln312Pro) c.311A>C (p.Gln104Pro) c.1124A>C (p.Gln375Pro) c.1028A>C (p.Gln343Pro) c.8370+134893T>G (n.8370+134893T>G) | gnomAD v4 |
2 | g.108907939T= | CA1278358963 | EDAR,RANBP2 | c.884A= (p.Gln295=) c.980A= (p.Gln327=) c.1031A= (p.Gln344=) c.935A= (p.Gln312=) c.311A= (p.Gln104=) c.1124A= (p.Gln375=) c.1028A= (p.Gln343=) c.8370+134893T= (n.8370+134893T=) | |
2 | g.108907940G>A | CA348050995 | EDAR,RANBP2 | c.883C>T (p.Gln295Ter) c.979C>T (p.Gln327Ter) c.1030C>T (p.Gln344Ter) c.934C>T (p.Gln312Ter) c.310C>T (p.Gln104Ter) c.1123C>T (p.Gln375Ter) c.1027C>T (p.Gln343Ter) c.8370+134894G>A (n.8370+134894G>A) | |
2 | g.108907940G>C | CA348050996 | EDAR,RANBP2 | c.883C>G (p.Gln295Glu) c.979C>G (p.Gln327Glu) c.1030C>G (p.Gln344Glu) c.934C>G (p.Gln312Glu) c.310C>G (p.Gln104Glu) c.1123C>G (p.Gln375Glu) c.1027C>G (p.Gln343Glu) c.8370+134894G>C (n.8370+134894G>C) | |
2 | g.108907940G= | CA1278358964 | EDAR,RANBP2 | c.883C= (p.Gln295=) c.979C= (p.Gln327=) c.1030C= (p.Gln344=) c.934C= (p.Gln312=) c.310C= (p.Gln104=) c.1123C= (p.Gln375=) c.1027C= (p.Gln343=) c.8370+134894G= (n.8370+134894G=) | |
2 | g.108907940G>T | CA348050997 | EDAR,RANBP2 | c.883C>A (p.Gln295Lys) c.979C>A (p.Gln327Lys) c.1030C>A (p.Gln344Lys) c.934C>A (p.Gln312Lys) c.310C>A (p.Gln104Lys) c.1123C>A (p.Gln375Lys) c.1027C>A (p.Gln343Lys) c.8370+134894G>T (n.8370+134894G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108907941C>A | CA348050998 | EDAR,RANBP2 | c.882G>T (p.Lys294Asn) c.978G>T (p.Lys326Asn) c.1029G>T (p.Lys343Asn) c.933G>T (p.Lys311Asn) c.309G>T (p.Lys103Asn) c.1122G>T (p.Lys374Asn) c.1026G>T (p.Lys342Asn) c.8370+134895C>A (n.8370+134895C>A) | gnomAD v4 |
2 | g.108907941C>G | CA348050999 | EDAR,RANBP2 | c.882G>C (p.Lys294Asn) c.978G>C (p.Lys326Asn) c.1029G>C (p.Lys343Asn) c.933G>C (p.Lys311Asn) c.309G>C (p.Lys103Asn) c.1122G>C (p.Lys374Asn) c.1026G>C (p.Lys342Asn) c.8370+134895C>G (n.8370+134895C>G) | |
2 | g.108907941C>T | CA427911939 | EDAR,RANBP2 | c.882G>A (p.Lys294=) c.978G>A (p.Lys326=) c.1029G>A (p.Lys343=) c.933G>A (p.Lys311=) c.309G>A (p.Lys103=) c.1122G>A (p.Lys374=) c.1026G>A (p.Lys342=) c.8370+134895C>T (n.8370+134895C>T) | gnomAD v4 |
2 | g.108907942T>A | CA348051000 | EDAR,RANBP2 | c.881A>T (p.Lys294Met) c.977A>T (p.Lys326Met) c.1028A>T (p.Lys343Met) c.932A>T (p.Lys311Met) c.308A>T (p.Lys103Met) c.1121A>T (p.Lys374Met) c.1025A>T (p.Lys342Met) c.8370+134896T>A (n.8370+134896T>A) | |
2 | g.108907942T>C | CA1824897 | EDAR,RANBP2 | c.881A>G (p.Lys294Arg) c.977A>G (p.Lys326Arg) c.1028A>G (p.Lys343Arg) c.932A>G (p.Lys311Arg) c.308A>G (p.Lys103Arg) c.1121A>G (p.Lys374Arg) c.1025A>G (p.Lys342Arg) c.8370+134896T>C (n.8370+134896T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.108907942T>G | CA348051001 | EDAR,RANBP2 | c.881A>C (p.Lys294Thr) c.977A>C (p.Lys326Thr) c.1028A>C (p.Lys343Thr) c.932A>C (p.Lys311Thr) c.308A>C (p.Lys103Thr) c.1121A>C (p.Lys374Thr) c.1025A>C (p.Lys342Thr) c.8370+134896T>G (n.8370+134896T>G) | |
2 | g.108907942T= | CA1278358965 | EDAR,RANBP2 | c.881A= (p.Lys294=) c.977A= (p.Lys326=) c.1028A= (p.Lys343=) c.932A= (p.Lys311=) c.308A= (p.Lys103=) c.1121A= (p.Lys374=) c.1025A= (p.Lys342=) c.8370+134896T= (n.8370+134896T=) | |
2 | g.108907943T>A | CA348051002 | EDAR,RANBP2 | c.880A>T (p.Lys294Ter) c.976A>T (p.Lys326Ter) c.1027A>T (p.Lys343Ter) c.931A>T (p.Lys311Ter) c.307A>T (p.Lys103Ter) c.1120A>T (p.Lys374Ter) c.1024A>T (p.Lys342Ter) c.8370+134897T>A (n.8370+134897T>A) | |
2 | g.108907943T>C | CA348051003 | EDAR,RANBP2 | c.880A>G (p.Lys294Glu) c.976A>G (p.Lys326Glu) c.1027A>G (p.Lys343Glu) c.931A>G (p.Lys311Glu) c.307A>G (p.Lys103Glu) c.1120A>G (p.Lys374Glu) c.1024A>G (p.Lys342Glu) c.8370+134897T>C (n.8370+134897T>C) | gnomAD v4 |
2 | g.108907943T>G | CA348051004 | EDAR,RANBP2 | c.880A>C (p.Lys294Gln) c.976A>C (p.Lys326Gln) c.1027A>C (p.Lys343Gln) c.931A>C (p.Lys311Gln) c.307A>C (p.Lys103Gln) c.1120A>C (p.Lys374Gln) c.1024A>C (p.Lys342Gln) c.8370+134897T>G (n.8370+134897T>G) | gnomAD v4 |
2 | g.108907944G>A | CA427911940 | EDAR,RANBP2 | c.879C>T (p.Asp293=) c.975C>T (p.Asp325=) c.1026C>T (p.Asp342=) c.930C>T (p.Asp310=) c.306C>T (p.Asp102=) c.1119C>T (p.Asp373=) c.1023C>T (p.Asp341=) c.8370+134898G>A (n.8370+134898G>A) | |
2 | g.108907944G>C | CA348051005 | EDAR,RANBP2 | c.879C>G (p.Asp293Glu) c.975C>G (p.Asp325Glu) c.1026C>G (p.Asp342Glu) c.930C>G (p.Asp310Glu) c.306C>G (p.Asp102Glu) c.1119C>G (p.Asp373Glu) c.1023C>G (p.Asp341Glu) c.8370+134898G>C (n.8370+134898G>C) | gnomAD v4 |
2 | g.108907944G>T | CA348051006 | EDAR,RANBP2 | c.879C>A (p.Asp293Glu) c.975C>A (p.Asp325Glu) c.1026C>A (p.Asp342Glu) c.930C>A (p.Asp310Glu) c.306C>A (p.Asp102Glu) c.1119C>A (p.Asp373Glu) c.1023C>A (p.Asp341Glu) c.8370+134898G>T (n.8370+134898G>T) | |
2 | g.108907945T>A | CA348051007 | EDAR,RANBP2 | c.878A>T (p.Asp293Val) c.974A>T (p.Asp325Val) c.1025A>T (p.Asp342Val) c.929A>T (p.Asp310Val) c.305A>T (p.Asp102Val) c.1118A>T (p.Asp373Val) c.1022A>T (p.Asp341Val) c.8370+134899T>A (n.8370+134899T>A) | |
2 | g.108907945T>C | CA348051008 | EDAR,RANBP2 | c.878A>G (p.Asp293Gly) c.974A>G (p.Asp325Gly) c.1025A>G (p.Asp342Gly) c.929A>G (p.Asp310Gly) c.305A>G (p.Asp102Gly) c.1118A>G (p.Asp373Gly) c.1022A>G (p.Asp341Gly) c.8370+134899T>C (n.8370+134899T>C) | |
2 | g.108907945T>G | CA348051009 | EDAR,RANBP2 | c.878A>C (p.Asp293Ala) c.974A>C (p.Asp325Ala) c.1025A>C (p.Asp342Ala) c.929A>C (p.Asp310Ala) c.305A>C (p.Asp102Ala) c.1118A>C (p.Asp373Ala) c.1022A>C (p.Asp341Ala) c.8370+134899T>G (n.8370+134899T>G) | |
2 | g.108907946C>A | CA348051010 | EDAR,RANBP2 | c.877G>T (p.Asp293Tyr) c.973G>T (p.Asp325Tyr) c.1024G>T (p.Asp342Tyr) c.928G>T (p.Asp310Tyr) c.304G>T (p.Asp102Tyr) c.1117G>T (p.Asp373Tyr) c.1021G>T (p.Asp341Tyr) c.8370+134900C>A (n.8370+134900C>A) | |
2 | g.108907946C>G | CA348051011 | EDAR,RANBP2 | c.877G>C (p.Asp293His) c.973G>C (p.Asp325His) c.1024G>C (p.Asp342His) c.928G>C (p.Asp310His) c.304G>C (p.Asp102His) c.1117G>C (p.Asp373His) c.1021G>C (p.Asp341His) c.8370+134900C>G (n.8370+134900C>G) | |
2 | g.108907946C>T | CA348051012 | EDAR,RANBP2 | c.877G>A (p.Asp293Asn) c.973G>A (p.Asp325Asn) c.1024G>A (p.Asp342Asn) c.928G>A (p.Asp310Asn) c.304G>A (p.Asp102Asn) c.1117G>A (p.Asp373Asn) c.1021G>A (p.Asp341Asn) c.8370+134900C>T (n.8370+134900C>T) | |
2 | g.108907947A>C | CA427911941 | EDAR,RANBP2 | c.876T>G (p.Pro292=) c.972T>G (p.Pro324=) c.1023T>G (p.Pro341=) c.927T>G (p.Pro309=) c.303T>G (p.Pro101=) c.1116T>G (p.Pro372=) c.1020T>G (p.Pro340=) c.8370+134901A>C (n.8370+134901A>C) | |
2 | g.108907947A>G | CA427911943 | EDAR,RANBP2 | c.876T>C (p.Pro292=) c.972T>C (p.Pro324=) c.1023T>C (p.Pro341=) c.927T>C (p.Pro309=) c.303T>C (p.Pro101=) c.1116T>C (p.Pro372=) c.1020T>C (p.Pro340=) c.8370+134901A>G (n.8370+134901A>G) | |
2 | g.108907947A>T | CA427911942 | EDAR,RANBP2 | c.876T>A (p.Pro292=) c.972T>A (p.Pro324=) c.1023T>A (p.Pro341=) c.927T>A (p.Pro309=) c.303T>A (p.Pro101=) c.1116T>A (p.Pro372=) c.1020T>A (p.Pro340=) c.8370+134901A>T (n.8370+134901A>T) | |
2 | g.108907948G>A | CA348051014 | EDAR,RANBP2 | c.875C>T (p.Pro292Leu) c.971C>T (p.Pro324Leu) c.1022C>T (p.Pro341Leu) c.926C>T (p.Pro309Leu) c.302C>T (p.Pro101Leu) c.1115C>T (p.Pro372Leu) c.1019C>T (p.Pro340Leu) c.8370+134902G>A (n.8370+134902G>A) | |
2 | g.108907948G>C | CA348051015 | EDAR,RANBP2 | c.875C>G (p.Pro292Arg) c.971C>G (p.Pro324Arg) c.1022C>G (p.Pro341Arg) c.926C>G (p.Pro309Arg) c.302C>G (p.Pro101Arg) c.1115C>G (p.Pro372Arg) c.1019C>G (p.Pro340Arg) c.8370+134902G>C (n.8370+134902G>C) | |
2 | g.108907948G>T | CA348051013 | EDAR,RANBP2 | c.875C>A (p.Pro292His) c.971C>A (p.Pro324His) c.1022C>A (p.Pro341His) c.926C>A (p.Pro309His) c.302C>A (p.Pro101His) c.1115C>A (p.Pro372His) c.1019C>A (p.Pro340His) c.8370+134902G>T (n.8370+134902G>T) | |
2 | g.108907950_108907951del | CA2586969746 | EDAR,RANBP2 | c.874_875del (p.Pro292Ter) c.970_971del (p.Pro324Ter) c.1021_1022del (p.Pro341Ter) c.925_926del (p.Pro309Ter) c.301_302del (p.Pro101Ter) c.1114_1115del (p.Pro372Ter) c.1018_1019del (p.Pro340Ter) c.8370+134904_8370+134905del (n.8370+134904_8370+134905del) | |
2 | g.108907949G>A | CA348051017 | EDAR,RANBP2 | c.874C>T (p.Pro292Ser) c.970C>T (p.Pro324Ser) c.1021C>T (p.Pro341Ser) c.925C>T (p.Pro309Ser) c.301C>T (p.Pro101Ser) c.1114C>T (p.Pro372Ser) c.1018C>T (p.Pro340Ser) c.8370+134903G>A (n.8370+134903G>A) | gnomAD v4 |
2 | g.108907949G>C | CA348051016 | EDAR,RANBP2 | c.874C>G (p.Pro292Ala) c.970C>G (p.Pro324Ala) c.1021C>G (p.Pro341Ala) c.925C>G (p.Pro309Ala) c.301C>G (p.Pro101Ala) c.1114C>G (p.Pro372Ala) c.1018C>G (p.Pro340Ala) c.8370+134903G>C (n.8370+134903G>C) | |
2 | g.108907949G>T | CA348051018 | EDAR,RANBP2 | c.874C>A (p.Pro292Thr) c.970C>A (p.Pro324Thr) c.1021C>A (p.Pro341Thr) c.925C>A (p.Pro309Thr) c.301C>A (p.Pro101Thr) c.1114C>A (p.Pro372Thr) c.1018C>A (p.Pro340Thr) c.8370+134903G>T (n.8370+134903G>T) | COSMIC COSMIC |
2 | g.108907950G>A | CA427911944 | EDAR,RANBP2 | c.873C>T (p.Ala291=) c.969C>T (p.Ala323=) c.1020C>T (p.Ala340=) c.924C>T (p.Ala308=) c.300C>T (p.Ala100=) c.1113C>T (p.Ala371=) c.1017C>T (p.Ala339=) c.8370+134904G>A (n.8370+134904G>A) | COSMIC COSMIC |
2 | g.108907950G>C | CA427911945 | EDAR,RANBP2 | c.873C>G (p.Ala291=) c.969C>G (p.Ala323=) c.1020C>G (p.Ala340=) c.924C>G (p.Ala308=) c.300C>G (p.Ala100=) c.1113C>G (p.Ala371=) c.1017C>G (p.Ala339=) c.8370+134904G>C (n.8370+134904G>C) | |
2 | g.108907950G>T | CA427911946 | EDAR,RANBP2 | c.873C>A (p.Ala291=) c.969C>A (p.Ala323=) c.1020C>A (p.Ala340=) c.924C>A (p.Ala308=) c.300C>A (p.Ala100=) c.1113C>A (p.Ala371=) c.1017C>A (p.Ala339=) c.8370+134904G>T (n.8370+134904G>T) | |
2 | g.108907951G>A | CA348051019 | EDAR,RANBP2 | c.872C>T (p.Ala291Val) c.968C>T (p.Ala323Val) c.1019C>T (p.Ala340Val) c.923C>T (p.Ala308Val) c.299C>T (p.Ala100Val) c.1112C>T (p.Ala371Val) c.1016C>T (p.Ala339Val) c.8370+134905G>A (n.8370+134905G>A) | |
2 | g.108907951G>C | CA348051020 | EDAR,RANBP2 | c.872C>G (p.Ala291Gly) c.968C>G (p.Ala323Gly) c.1019C>G (p.Ala340Gly) c.923C>G (p.Ala308Gly) c.299C>G (p.Ala100Gly) c.1112C>G (p.Ala371Gly) c.1016C>G (p.Ala339Gly) c.8370+134905G>C (n.8370+134905G>C) | |
2 | g.108907951G>T | CA348051021 | EDAR,RANBP2 | c.872C>A (p.Ala291Asp) c.968C>A (p.Ala323Asp) c.1019C>A (p.Ala340Asp) c.923C>A (p.Ala308Asp) c.299C>A (p.Ala100Asp) c.1112C>A (p.Ala371Asp) c.1016C>A (p.Ala339Asp) c.8370+134905G>T (n.8370+134905G>T) | dbSNP |
2 | g.108907952C>A | CA1824898 | EDAR,RANBP2 | c.871G>T (p.Ala291Ser) c.967G>T (p.Ala323Ser) c.1018G>T (p.Ala340Ser) c.922G>T (p.Ala308Ser) c.298G>T (p.Ala100Ser) c.1111G>T (p.Ala371Ser) c.1015G>T (p.Ala339Ser) c.8370+134906C>A (n.8370+134906C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108907952C= | CA1278358966 | EDAR,RANBP2 | c.871G= (p.Ala291=) c.967G= (p.Ala323=) c.1018G= (p.Ala340=) c.922G= (p.Ala308=) c.298G= (p.Ala100=) c.1111G= (p.Ala371=) c.1015G= (p.Ala339=) c.8370+134906C= (n.8370+134906C=) | |
2 | g.108907952C>G | CA348051022 | EDAR,RANBP2 | c.871G>C (p.Ala291Pro) c.967G>C (p.Ala323Pro) c.1018G>C (p.Ala340Pro) c.922G>C (p.Ala308Pro) c.298G>C (p.Ala100Pro) c.1111G>C (p.Ala371Pro) c.1015G>C (p.Ala339Pro) c.8370+134906C>G (n.8370+134906C>G) | |
2 | g.108907952C>T | CA1824899 | EDAR,RANBP2 | c.871G>A (p.Ala291Thr) c.967G>A (p.Ala323Thr) c.1018G>A (p.Ala340Thr) c.922G>A (p.Ala308Thr) c.298G>A (p.Ala100Thr) c.1111G>A (p.Ala371Thr) c.1015G>A (p.Ala339Thr) c.8370+134906C>T (n.8370+134906C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907953G>A | CA1824900 | EDAR,RANBP2 | c.870C>T (p.Pro290=) c.966C>T (p.Pro322=) c.1017C>T (p.Pro339=) c.921C>T (p.Pro307=) c.297C>T (p.Pro99=) c.1110C>T (p.Pro370=) c.1014C>T (p.Pro338=) c.8370+134907G>A (n.8370+134907G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108907953G>C | CA427911947 | EDAR,RANBP2 | c.870C>G (p.Pro290=) c.966C>G (p.Pro322=) c.1017C>G (p.Pro339=) c.921C>G (p.Pro307=) c.297C>G (p.Pro99=) c.1110C>G (p.Pro370=) c.1014C>G (p.Pro338=) c.8370+134907G>C (n.8370+134907G>C) | |
2 | g.108907953G= | CA1278358967 | EDAR,RANBP2 | c.870C= (p.Pro290=) c.966C= (p.Pro322=) c.1017C= (p.Pro339=) c.921C= (p.Pro307=) c.297C= (p.Pro99=) c.1110C= (p.Pro370=) c.1014C= (p.Pro338=) c.8370+134907G= (n.8370+134907G=) | |
2 | g.108907953G>T | CA427911948 | EDAR,RANBP2 | c.870C>A (p.Pro290=) c.966C>A (p.Pro322=) c.1017C>A (p.Pro339=) c.921C>A (p.Pro307=) c.297C>A (p.Pro99=) c.1110C>A (p.Pro370=) c.1014C>A (p.Pro338=) c.8370+134907G>T (n.8370+134907G>T) | |
2 | g.108907954G>A | CA348051023 | EDAR,RANBP2 | c.869C>T (p.Pro290Leu) c.965C>T (p.Pro322Leu) c.1016C>T (p.Pro339Leu) c.920C>T (p.Pro307Leu) c.296C>T (p.Pro99Leu) c.1109C>T (p.Pro370Leu) c.1013C>T (p.Pro338Leu) c.8370+134908G>A (n.8370+134908G>A) | |
2 | g.108907954G>C | CA348051024 | EDAR,RANBP2 | c.869C>G (p.Pro290Arg) c.965C>G (p.Pro322Arg) c.1016C>G (p.Pro339Arg) c.920C>G (p.Pro307Arg) c.296C>G (p.Pro99Arg) c.1109C>G (p.Pro370Arg) c.1013C>G (p.Pro338Arg) c.8370+134908G>C (n.8370+134908G>C) | |
2 | g.108907954G>T | CA348051025 | EDAR,RANBP2 | c.869C>A (p.Pro290His) c.965C>A (p.Pro322His) c.1016C>A (p.Pro339His) c.920C>A (p.Pro307His) c.296C>A (p.Pro99His) c.1109C>A (p.Pro370His) c.1013C>A (p.Pro338His) c.8370+134908G>T (n.8370+134908G>T) | |
2 | g.108907955G>A | CA348051026 | EDAR,RANBP2 | c.868C>T (p.Pro290Ser) c.964C>T (p.Pro322Ser) c.1015C>T (p.Pro339Ser) c.919C>T (p.Pro307Ser) c.295C>T (p.Pro99Ser) c.1108C>T (p.Pro370Ser) c.1012C>T (p.Pro338Ser) c.8370+134909G>A (n.8370+134909G>A) | |
2 | g.108907955G>C | CA348051027 | EDAR,RANBP2 | c.868C>G (p.Pro290Ala) c.964C>G (p.Pro322Ala) c.1015C>G (p.Pro339Ala) c.919C>G (p.Pro307Ala) c.295C>G (p.Pro99Ala) c.1108C>G (p.Pro370Ala) c.1012C>G (p.Pro338Ala) c.8370+134909G>C (n.8370+134909G>C) | |
2 | g.108907955G>T | CA348051028 | EDAR,RANBP2 | c.868C>A (p.Pro290Thr) c.964C>A (p.Pro322Thr) c.1015C>A (p.Pro339Thr) c.919C>A (p.Pro307Thr) c.295C>A (p.Pro99Thr) c.1108C>A (p.Pro370Thr) c.1012C>A (p.Pro338Thr) c.8370+134909G>T (n.8370+134909G>T) | gnomAD v4 |
2 | g.108907956C>A | CA348051029 | EDAR,RANBP2 | c.867G>T (p.Glu289Asp) c.963G>T (p.Glu321Asp) c.1014G>T (p.Glu338Asp) c.918G>T (p.Glu306Asp) c.294G>T (p.Glu98Asp) c.1107G>T (p.Glu369Asp) c.1011G>T (p.Glu337Asp) c.8370+134910C>A (n.8370+134910C>A) | |
2 | g.108907956C= | CA1278358968 | EDAR,RANBP2 | c.867G= (p.Glu289=) c.963G= (p.Glu321=) c.1014G= (p.Glu338=) c.918G= (p.Glu306=) c.294G= (p.Glu98=) c.1107G= (p.Glu369=) c.1011G= (p.Glu337=) c.8370+134910C= (n.8370+134910C=) | |
2 | g.108907956C>G | CA348051030 | EDAR,RANBP2 | c.867G>C (p.Glu289Asp) c.963G>C (p.Glu321Asp) c.1014G>C (p.Glu338Asp) c.918G>C (p.Glu306Asp) c.294G>C (p.Glu98Asp) c.1107G>C (p.Glu369Asp) c.1011G>C (p.Glu337Asp) c.8370+134910C>G (n.8370+134910C>G) | |
2 | g.108907956C>T | CA427911949 | EDAR,RANBP2 | c.867G>A (p.Glu289=) c.963G>A (p.Glu321=) c.1014G>A (p.Glu338=) c.918G>A (p.Glu306=) c.294G>A (p.Glu98=) c.1107G>A (p.Glu369=) c.1011G>A (p.Glu337=) c.8370+134910C>T (n.8370+134910C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.108907959_108907961del | CA2577065589 | EDAR,RANBP2 | c.865_867del (p.Glu289del) c.961_963del (p.Glu321del) c.1012_1014del (p.Glu338del) c.916_918del (p.Glu306del) c.292_294del (p.Glu98del) c.1105_1107del (p.Glu369del) c.1009_1011del (p.Glu337del) c.8370+134913_8370+134915del (n.8370+134913_8370+134915del) | |
2 | g.108907957T>A | CA348051031 | EDAR,RANBP2 | c.866A>T (p.Glu289Val) c.962A>T (p.Glu321Val) c.1013A>T (p.Glu338Val) c.917A>T (p.Glu306Val) c.293A>T (p.Glu98Val) c.1106A>T (p.Glu369Val) c.1010A>T (p.Glu337Val) c.8370+134911T>A (n.8370+134911T>A) | |
2 | g.108907957T>C | CA348051032 | EDAR,RANBP2 | c.866A>G (p.Glu289Gly) c.962A>G (p.Glu321Gly) c.1013A>G (p.Glu338Gly) c.917A>G (p.Glu306Gly) c.293A>G (p.Glu98Gly) c.1106A>G (p.Glu369Gly) c.1010A>G (p.Glu337Gly) c.8370+134911T>C (n.8370+134911T>C) | |
2 | g.108907957T>G | CA348051033 | EDAR,RANBP2 | c.866A>C (p.Glu289Ala) c.962A>C (p.Glu321Ala) c.1013A>C (p.Glu338Ala) c.917A>C (p.Glu306Ala) c.293A>C (p.Glu98Ala) c.1106A>C (p.Glu369Ala) c.1010A>C (p.Glu337Ala) c.8370+134911T>G (n.8370+134911T>G) | |
2 | g.108907958C>A | CA348051034 | EDAR,RANBP2 | c.865G>T (p.Glu289Ter) c.961G>T (p.Glu321Ter) c.1012G>T (p.Glu338Ter) c.916G>T (p.Glu306Ter) c.292G>T (p.Glu98Ter) c.1105G>T (p.Glu369Ter) c.1009G>T (p.Glu337Ter) c.8370+134912C>A (n.8370+134912C>A) | |
2 | g.108907958C>G | CA348051035 | EDAR,RANBP2 | c.865G>C (p.Glu289Gln) c.961G>C (p.Glu321Gln) c.1012G>C (p.Glu338Gln) c.916G>C (p.Glu306Gln) c.292G>C (p.Glu98Gln) c.1105G>C (p.Glu369Gln) c.1009G>C (p.Glu337Gln) c.8370+134912C>G (n.8370+134912C>G) | |
2 | g.108907958C>T | CA348051036 | EDAR,RANBP2 | c.865G>A (p.Glu289Lys) c.961G>A (p.Glu321Lys) c.1012G>A (p.Glu338Lys) c.916G>A (p.Glu306Lys) c.292G>A (p.Glu98Lys) c.1105G>A (p.Glu369Lys) c.1009G>A (p.Glu337Lys) c.8370+134912C>T (n.8370+134912C>T) | gnomAD v4 |
2 | g.108907959C>A | CA348051037 | EDAR,RANBP2 | c.864G>T (p.Glu288Asp) c.960G>T (p.Glu320Asp) c.1011G>T (p.Glu337Asp) c.915G>T (p.Glu305Asp) c.291G>T (p.Glu97Asp) c.1104G>T (p.Glu368Asp) c.1008G>T (p.Glu336Asp) c.8370+134913C>A (n.8370+134913C>A) | |
2 | g.108907959C>G | CA348051038 | EDAR,RANBP2 | c.864G>C (p.Glu288Asp) c.960G>C (p.Glu320Asp) c.1011G>C (p.Glu337Asp) c.915G>C (p.Glu305Asp) c.291G>C (p.Glu97Asp) c.1104G>C (p.Glu368Asp) c.1008G>C (p.Glu336Asp) c.8370+134913C>G (n.8370+134913C>G) | |
2 | g.108907959C>T | CA427911950 | EDAR,RANBP2 | c.864G>A (p.Glu288=) c.960G>A (p.Glu320=) c.1011G>A (p.Glu337=) c.915G>A (p.Glu305=) c.291G>A (p.Glu97=) c.1104G>A (p.Glu368=) c.1008G>A (p.Glu336=) c.8370+134913C>T (n.8370+134913C>T) | |
2 | g.108907960T>A | CA348051039 | EDAR,RANBP2 | c.863A>T (p.Glu288Val) c.959A>T (p.Glu320Val) c.1010A>T (p.Glu337Val) c.914A>T (p.Glu305Val) c.290A>T (p.Glu97Val) c.1103A>T (p.Glu368Val) c.1007A>T (p.Glu336Val) c.8370+134914T>A (n.8370+134914T>A) | |
2 | g.108907960T>C | CA348051040 | EDAR,RANBP2 | c.863A>G (p.Glu288Gly) c.959A>G (p.Glu320Gly) c.1010A>G (p.Glu337Gly) c.914A>G (p.Glu305Gly) c.290A>G (p.Glu97Gly) c.1103A>G (p.Glu368Gly) c.1007A>G (p.Glu336Gly) c.8370+134914T>C (n.8370+134914T>C) | |
2 | g.108907960T>G | CA348051041 | EDAR,RANBP2 | c.863A>C (p.Glu288Ala) c.959A>C (p.Glu320Ala) c.1010A>C (p.Glu337Ala) c.914A>C (p.Glu305Ala) c.290A>C (p.Glu97Ala) c.1103A>C (p.Glu368Ala) c.1007A>C (p.Glu336Ala) c.8370+134914T>G (n.8370+134914T>G) | |
2 | g.108907961C>A | CA348051043 | EDAR,RANBP2 | c.862G>T (p.Glu288Ter) c.958G>T (p.Glu320Ter) c.1009G>T (p.Glu337Ter) c.913G>T (p.Glu305Ter) c.289G>T (p.Glu97Ter) c.1102G>T (p.Glu368Ter) c.1006G>T (p.Glu336Ter) c.8370+134915C>A (n.8370+134915C>A) | |
2 | g.108907961C>G | CA348051044 | EDAR,RANBP2 | c.862G>C (p.Glu288Gln) c.958G>C (p.Glu320Gln) c.1009G>C (p.Glu337Gln) c.913G>C (p.Glu305Gln) c.289G>C (p.Glu97Gln) c.1102G>C (p.Glu368Gln) c.1006G>C (p.Glu336Gln) c.8370+134915C>G (n.8370+134915C>G) | |
2 | g.108907961C>T | CA348051042 | EDAR,RANBP2 | c.862G>A (p.Glu288Lys) c.958G>A (p.Glu320Lys) c.1009G>A (p.Glu337Lys) c.913G>A (p.Glu305Lys) c.289G>A (p.Glu97Lys) c.1102G>A (p.Glu368Lys) c.1006G>A (p.Glu336Lys) c.8370+134915C>T (n.8370+134915C>T) | |
2 | g.108907962A>C | CA348051045 | EDAR,RANBP2 | c.861T>G (p.Asp287Glu) c.957T>G (p.Asp319Glu) c.1008T>G (p.Asp336Glu) c.912T>G (p.Asp304Glu) c.288T>G (p.Asp96Glu) c.1101T>G (p.Asp367Glu) c.1005T>G (p.Asp335Glu) c.8370+134916A>C (n.8370+134916A>C) | |
2 | g.108907962A>G | CA427911951 | EDAR,RANBP2 | c.861T>C (p.Asp287=) c.957T>C (p.Asp319=) c.1008T>C (p.Asp336=) c.912T>C (p.Asp304=) c.288T>C (p.Asp96=) c.1101T>C (p.Asp367=) c.1005T>C (p.Asp335=) c.8370+134916A>G (n.8370+134916A>G) | |
2 | g.108907962A>T | CA348051046 | EDAR,RANBP2 | c.861T>A (p.Asp287Glu) c.957T>A (p.Asp319Glu) c.1008T>A (p.Asp336Glu) c.912T>A (p.Asp304Glu) c.288T>A (p.Asp96Glu) c.1101T>A (p.Asp367Glu) c.1005T>A (p.Asp335Glu) c.8370+134916A>T (n.8370+134916A>T) | |
2 | g.108907963T>A | CA348051047 | EDAR,RANBP2 | c.860A>T (p.Asp287Val) c.956A>T (p.Asp319Val) c.1007A>T (p.Asp336Val) c.911A>T (p.Asp304Val) c.287A>T (p.Asp96Val) c.1100A>T (p.Asp367Val) c.1004A>T (p.Asp335Val) c.8370+134917T>A (n.8370+134917T>A) | |
2 | g.108907963T>C | CA348051048 | EDAR,RANBP2 | c.860A>G (p.Asp287Gly) c.956A>G (p.Asp319Gly) c.1007A>G (p.Asp336Gly) c.911A>G (p.Asp304Gly) c.287A>G (p.Asp96Gly) c.1100A>G (p.Asp367Gly) c.1004A>G (p.Asp335Gly) c.8370+134917T>C (n.8370+134917T>C) | |
2 | g.108907963T>G | CA348051049 | EDAR,RANBP2 | c.860A>C (p.Asp287Ala) c.956A>C (p.Asp319Ala) c.1007A>C (p.Asp336Ala) c.911A>C (p.Asp304Ala) c.287A>C (p.Asp96Ala) c.1100A>C (p.Asp367Ala) c.1004A>C (p.Asp335Ala) c.8370+134917T>G (n.8370+134917T>G) |