| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 2 | g.108907964C>A | CA348051050 | EDAR,RANBP2 | c.859G>T (p.Asp287Tyr) c.955G>T (p.Asp319Tyr) c.1006G>T (p.Asp336Tyr) c.910G>T (p.Asp304Tyr) c.286G>T (p.Asp96Tyr) c.1099G>T (p.Asp367Tyr) c.1003G>T (p.Asp335Tyr) c.8370+134918C>A (n.8370+134918C>A) | |
| 2 | g.108907964C>G | CA348051051 | EDAR,RANBP2 | c.859G>C (p.Asp287His) c.955G>C (p.Asp319His) c.1006G>C (p.Asp336His) c.910G>C (p.Asp304His) c.286G>C (p.Asp96His) c.1099G>C (p.Asp367His) c.1003G>C (p.Asp335His) c.8370+134918C>G (n.8370+134918C>G) | |
| 2 | g.108907964C>T | CA348051052 | EDAR,RANBP2 | c.859G>A (p.Asp287Asn) c.955G>A (p.Asp319Asn) c.1006G>A (p.Asp336Asn) c.910G>A (p.Asp304Asn) c.286G>A (p.Asp96Asn) c.1099G>A (p.Asp367Asn) c.1003G>A (p.Asp335Asn) c.8370+134918C>T (n.8370+134918C>T) | |
| 2 | g.108907965A>C | CA348051053 | EDAR,RANBP2 | c.858T>G (p.Ser286Arg) c.954T>G (p.Ser318Arg) c.1005T>G (p.Ser335Arg) c.909T>G (p.Ser303Arg) c.285T>G (p.Ser95Arg) c.1098T>G (p.Ser366Arg) c.1002T>G (p.Ser334Arg) c.8370+134919A>C (n.8370+134919A>C) | |
| 2 | g.108907965A>G | CA427911952 | EDAR,RANBP2 | c.858T>C (p.Ser286=) c.954T>C (p.Ser318=) c.1005T>C (p.Ser335=) c.909T>C (p.Ser303=) c.285T>C (p.Ser95=) c.1098T>C (p.Ser366=) c.1002T>C (p.Ser334=) c.8370+134919A>G (n.8370+134919A>G) | |
| 2 | g.108907965A>T | CA348051054 | EDAR,RANBP2 | c.858T>A (p.Ser286Arg) c.954T>A (p.Ser318Arg) c.1005T>A (p.Ser335Arg) c.909T>A (p.Ser303Arg) c.285T>A (p.Ser95Arg) c.1098T>A (p.Ser366Arg) c.1002T>A (p.Ser334Arg) c.8370+134919A>T (n.8370+134919A>T) | |
| 2 | g.108907966C>A | CA348051055 | EDAR,RANBP2 | c.857G>T (p.Ser286Ile) c.953G>T (p.Ser318Ile) c.1004G>T (p.Ser335Ile) c.908G>T (p.Ser303Ile) c.284G>T (p.Ser95Ile) c.1097G>T (p.Ser366Ile) c.1001G>T (p.Ser334Ile) c.8370+134920C>A (n.8370+134920C>A) | |
| 2 | g.108907966C= | CA1278358969 | EDAR,RANBP2 | c.857G= (p.Ser286=) c.953G= (p.Ser318=) c.1004G= (p.Ser335=) c.908G= (p.Ser303=) c.284G= (p.Ser95=) c.1097G= (p.Ser366=) c.1001G= (p.Ser334=) c.8370+134920C= (n.8370+134920C=) | |
| 2 | g.108907966C>G | CA53473326 | EDAR,RANBP2 | c.857G>C (p.Ser286Thr) c.953G>C (p.Ser318Thr) c.1004G>C (p.Ser335Thr) c.908G>C (p.Ser303Thr) c.284G>C (p.Ser95Thr) c.1097G>C (p.Ser366Thr) c.1001G>C (p.Ser334Thr) c.8370+134920C>G (n.8370+134920C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108907966C>T | CA348051056 | EDAR,RANBP2 | c.857G>A (p.Ser286Asn) c.953G>A (p.Ser318Asn) c.1004G>A (p.Ser335Asn) c.908G>A (p.Ser303Asn) c.284G>A (p.Ser95Asn) c.1097G>A (p.Ser366Asn) c.1001G>A (p.Ser334Asn) c.8370+134920C>T (n.8370+134920C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108907967T>A | CA348051059 | EDAR,RANBP2 | c.856A>T (p.Ser286Cys) c.952A>T (p.Ser318Cys) c.1003A>T (p.Ser335Cys) c.907A>T (p.Ser303Cys) c.283A>T (p.Ser95Cys) c.1096A>T (p.Ser366Cys) c.1000A>T (p.Ser334Cys) c.8370+134921T>A (n.8370+134921T>A) | |
| 2 | g.108907967T>C | CA348051058 | EDAR,RANBP2 | c.856A>G (p.Ser286Gly) c.952A>G (p.Ser318Gly) c.1003A>G (p.Ser335Gly) c.907A>G (p.Ser303Gly) c.283A>G (p.Ser95Gly) c.1096A>G (p.Ser366Gly) c.1000A>G (p.Ser334Gly) c.8370+134921T>C (n.8370+134921T>C) | |
| 2 | g.108907967T>G | CA348051057 | EDAR,RANBP2 | c.856A>C (p.Ser286Arg) c.952A>C (p.Ser318Arg) c.1003A>C (p.Ser335Arg) c.907A>C (p.Ser303Arg) c.283A>C (p.Ser95Arg) c.1096A>C (p.Ser366Arg) c.1000A>C (p.Ser334Arg) c.8370+134921T>G (n.8370+134921T>G) | |
| 2 | g.108907968G>A | CA427911953 | EDAR,RANBP2 | c.855C>T (p.Asp285=) c.951C>T (p.Asp317=) c.1002C>T (p.Asp334=) c.906C>T (p.Asp302=) c.282C>T (p.Asp94=) c.1095C>T (p.Asp365=) c.999C>T (p.Asp333=) c.8370+134922G>A (n.8370+134922G>A) | dbSNP gnomAD v3 gnomAD v4 |