| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108907860C>A | CA427911773 | EDAR,RANBP2 | c.963G>T (p.Gly321=) c.1059G>T (p.Gly353=) c.1110G>T (p.Gly370=) c.1014G>T (p.Gly338=) c.390G>T (p.Gly130=) c.1203G>T (p.Gly401=) c.1107G>T (p.Gly369=) c.8370+134814C>A (n.8370+134814C>A) | |
| 2 | g.108907860C>G | CA427911774 | EDAR,RANBP2 | c.963G>C (p.Gly321=) c.1059G>C (p.Gly353=) c.1110G>C (p.Gly370=) c.1014G>C (p.Gly338=) c.390G>C (p.Gly130=) c.1203G>C (p.Gly401=) c.1107G>C (p.Gly369=) c.8370+134814C>G (n.8370+134814C>G) | |
| 2 | g.108907860C>T | CA427911775 | EDAR,RANBP2 | c.963G>A (p.Gly321=) c.1059G>A (p.Gly353=) c.1110G>A (p.Gly370=) c.1014G>A (p.Gly338=) c.390G>A (p.Gly130=) c.1203G>A (p.Gly401=) c.1107G>A (p.Gly369=) c.8370+134814C>T (n.8370+134814C>T) | gnomAD v4 |
| 2 | g.108907861C>A | CA348050692 | EDAR,RANBP2 | c.962G>T (p.Gly321Val) c.1058G>T (p.Gly353Val) c.1109G>T (p.Gly370Val) c.1013G>T (p.Gly338Val) c.389G>T (p.Gly130Val) c.1202G>T (p.Gly401Val) c.1106G>T (p.Gly369Val) c.8370+134815C>A (n.8370+134815C>A) | |
| 2 | g.108907861C>G | CA348050694 | EDAR,RANBP2 | c.962G>C (p.Gly321Ala) c.1058G>C (p.Gly353Ala) c.1109G>C (p.Gly370Ala) c.1013G>C (p.Gly338Ala) c.389G>C (p.Gly130Ala) c.1202G>C (p.Gly401Ala) c.1106G>C (p.Gly369Ala) c.8370+134815C>G (n.8370+134815C>G) | |
| 2 | g.108907861C>T | CA348050693 | EDAR,RANBP2 | c.962G>A (p.Gly321Glu) c.1058G>A (p.Gly353Glu) c.1109G>A (p.Gly370Glu) c.1013G>A (p.Gly338Glu) c.389G>A (p.Gly130Glu) c.1202G>A (p.Gly401Glu) c.1106G>A (p.Gly369Glu) c.8370+134815C>T (n.8370+134815C>T) | gnomAD v4 |
| 2 | g.108907862C>A | CA348050696 | EDAR,RANBP2 | c.961G>T (p.Gly321Trp) c.1057G>T (p.Gly353Trp) c.1108G>T (p.Gly370Trp) c.1012G>T (p.Gly338Trp) c.388G>T (p.Gly130Trp) c.1201G>T (p.Gly401Trp) c.1105G>T (p.Gly369Trp) c.8370+134816C>A (n.8370+134816C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108907862C= | CA1278358934 | EDAR,RANBP2 | c.961G= (p.Gly321=) c.1057G= (p.Gly353=) c.1108G= (p.Gly370=) c.1012G= (p.Gly338=) c.388G= (p.Gly130=) c.1201G= (p.Gly401=) c.1105G= (p.Gly369=) c.8370+134816C= (n.8370+134816C=) | |
| 2 | g.108907862C>G | CA348050698 | EDAR,RANBP2 | c.961G>C (p.Gly321Arg) c.1057G>C (p.Gly353Arg) c.1108G>C (p.Gly370Arg) c.1012G>C (p.Gly338Arg) c.388G>C (p.Gly130Arg) c.1201G>C (p.Gly401Arg) c.1105G>C (p.Gly369Arg) c.8370+134816C>G (n.8370+134816C>G) | |
| 2 | g.108907862C>T | CA1824884 | EDAR,RANBP2 | c.961G>A (p.Gly321Arg) c.1057G>A (p.Gly353Arg) c.1108G>A (p.Gly370Arg) c.1012G>A (p.Gly338Arg) c.388G>A (p.Gly130Arg) c.1201G>A (p.Gly401Arg) c.1105G>A (p.Gly369Arg) c.8370+134816C>T (n.8370+134816C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |