Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
2 | g.108907968G>C | CA348051060 | EDAR,RANBP2 | c.855C>G (p.Asp285Glu) c.951C>G (p.Asp317Glu) c.1002C>G (p.Asp334Glu) c.906C>G (p.Asp302Glu) c.282C>G (p.Asp94Glu) c.1095C>G (p.Asp365Glu) c.999C>G (p.Asp333Glu) c.8370+134922G>C (n.8370+134922G>C) | gnomAD v4 |
2 | g.108907968G= | CA1278358970 | EDAR,RANBP2 | c.855C= (p.Asp285=) c.951C= (p.Asp317=) c.1002C= (p.Asp334=) c.906C= (p.Asp302=) c.282C= (p.Asp94=) c.1095C= (p.Asp365=) c.999C= (p.Asp333=) c.8370+134922G= (n.8370+134922G=) | |
2 | g.108907968G>T | CA348051061 | EDAR,RANBP2 | c.855C>A (p.Asp285Glu) c.951C>A (p.Asp317Glu) c.1002C>A (p.Asp334Glu) c.906C>A (p.Asp302Glu) c.282C>A (p.Asp94Glu) c.1095C>A (p.Asp365Glu) c.999C>A (p.Asp333Glu) c.8370+134922G>T (n.8370+134922G>T) | |
2 | g.108907969T>A | CA348051062 | EDAR,RANBP2 | c.854A>T (p.Asp285Val) c.950A>T (p.Asp317Val) c.1001A>T (p.Asp334Val) c.905A>T (p.Asp302Val) c.281A>T (p.Asp94Val) c.1094A>T (p.Asp365Val) c.998A>T (p.Asp333Val) c.8370+134923T>A (n.8370+134923T>A) | |
2 | g.108907969T>C | CA348051063 | EDAR,RANBP2 | c.854A>G (p.Asp285Gly) c.950A>G (p.Asp317Gly) c.1001A>G (p.Asp334Gly) c.905A>G (p.Asp302Gly) c.281A>G (p.Asp94Gly) c.1094A>G (p.Asp365Gly) c.998A>G (p.Asp333Gly) c.8370+134923T>C (n.8370+134923T>C) | |
2 | g.108907969T>G | CA348051064 | EDAR,RANBP2 | c.854A>C (p.Asp285Ala) c.950A>C (p.Asp317Ala) c.1001A>C (p.Asp334Ala) c.905A>C (p.Asp302Ala) c.281A>C (p.Asp94Ala) c.1094A>C (p.Asp365Ala) c.998A>C (p.Asp333Ala) c.8370+134923T>G (n.8370+134923T>G) | |
2 | g.108907970C>A | CA348051065 | EDAR,RANBP2 | c.853G>T (p.Asp285Tyr) c.949G>T (p.Asp317Tyr) c.1000G>T (p.Asp334Tyr) c.904G>T (p.Asp302Tyr) c.280G>T (p.Asp94Tyr) c.1093G>T (p.Asp365Tyr) c.997G>T (p.Asp333Tyr) c.8370+134924C>A (n.8370+134924C>A) | gnomAD v4 |
2 | g.108907970C= | CA1278358971 | EDAR,RANBP2 | c.853G= (p.Asp285=) c.949G= (p.Asp317=) c.1000G= (p.Asp334=) c.904G= (p.Asp302=) c.280G= (p.Asp94=) c.1093G= (p.Asp365=) c.997G= (p.Asp333=) c.8370+134924C= (n.8370+134924C=) | |
2 | g.108907970C>G | CA348051066 | EDAR,RANBP2 | c.853G>C (p.Asp285His) c.949G>C (p.Asp317His) c.1000G>C (p.Asp334His) c.904G>C (p.Asp302His) c.280G>C (p.Asp94His) c.1093G>C (p.Asp365His) c.997G>C (p.Asp333His) c.8370+134924C>G (n.8370+134924C>G) | |
2 | g.108907970C>T | CA348051067 | EDAR,RANBP2 | c.853G>A (p.Asp285Asn) c.949G>A (p.Asp317Asn) c.1000G>A (p.Asp334Asn) c.904G>A (p.Asp302Asn) c.280G>A (p.Asp94Asn) c.1093G>A (p.Asp365Asn) c.997G>A (p.Asp333Asn) c.8370+134924C>T (n.8370+134924C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.108907971G>A | CA1824901 | EDAR,RANBP2 | c.852C>T (p.Val284=) c.948C>T (p.Val316=) c.999C>T (p.Val333=) c.903C>T (p.Val301=) c.279C>T (p.Val93=) c.1092C>T (p.Val364=) c.996C>T (p.Val332=) c.8370+134925G>A (n.8370+134925G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108907971G>C | CA427911955 | EDAR,RANBP2 | c.852C>G (p.Val284=) c.948C>G (p.Val316=) c.999C>G (p.Val333=) c.903C>G (p.Val301=) c.279C>G (p.Val93=) c.1092C>G (p.Val364=) c.996C>G (p.Val332=) c.8370+134925G>C (n.8370+134925G>C) | gnomAD v4 |
2 | g.108907971G= | CA1278358972 | EDAR,RANBP2 | c.852C= (p.Val284=) c.948C= (p.Val316=) c.999C= (p.Val333=) c.903C= (p.Val301=) c.279C= (p.Val93=) c.1092C= (p.Val364=) c.996C= (p.Val332=) c.8370+134925G= (n.8370+134925G=) | |
2 | g.108907971G>T | CA427911954 | EDAR,RANBP2 | c.852C>A (p.Val284=) c.948C>A (p.Val316=) c.999C>A (p.Val333=) c.903C>A (p.Val301=) c.279C>A (p.Val93=) c.1092C>A (p.Val364=) c.996C>A (p.Val332=) c.8370+134925G>T (n.8370+134925G>T) | |
2 | g.108907972A>C | CA348051068 | EDAR,RANBP2 | c.851T>G (p.Val284Gly) c.947T>G (p.Val316Gly) c.998T>G (p.Val333Gly) c.902T>G (p.Val301Gly) c.278T>G (p.Val93Gly) c.1091T>G (p.Val364Gly) c.995T>G (p.Val332Gly) c.8370+134926A>C (n.8370+134926A>C) | |
2 | g.108907972A>G | CA348051069 | EDAR,RANBP2 | c.851T>C (p.Val284Ala) c.947T>C (p.Val316Ala) c.998T>C (p.Val333Ala) c.902T>C (p.Val301Ala) c.278T>C (p.Val93Ala) c.1091T>C (p.Val364Ala) c.995T>C (p.Val332Ala) c.8370+134926A>G (n.8370+134926A>G) | |
2 | g.108907972A>T | CA348051070 | EDAR,RANBP2 | c.851T>A (p.Val284Asp) c.947T>A (p.Val316Asp) c.998T>A (p.Val333Asp) c.902T>A (p.Val301Asp) c.278T>A (p.Val93Asp) c.1091T>A (p.Val364Asp) c.995T>A (p.Val332Asp) c.8370+134926A>T (n.8370+134926A>T) | |
2 | g.108907973C>A | CA348051072 | EDAR,RANBP2 | c.850G>T (p.Val284Phe) c.946G>T (p.Val316Phe) c.997G>T (p.Val333Phe) c.901G>T (p.Val301Phe) c.277G>T (p.Val93Phe) c.1090G>T (p.Val364Phe) c.994G>T (p.Val332Phe) c.8370+134927C>A (n.8370+134927C>A) | dbSNP |
2 | g.108907973C= | CA1278358973 | EDAR,RANBP2 | c.850G= (p.Val284=) c.946G= (p.Val316=) c.997G= (p.Val333=) c.901G= (p.Val301=) c.277G= (p.Val93=) c.1090G= (p.Val364=) c.994G= (p.Val332=) c.8370+134927C= (n.8370+134927C=) | |
2 | g.108907973C>G | CA348051071 | EDAR,RANBP2 | c.850G>C (p.Val284Leu) c.946G>C (p.Val316Leu) c.997G>C (p.Val333Leu) c.901G>C (p.Val301Leu) c.277G>C (p.Val93Leu) c.1090G>C (p.Val364Leu) c.994G>C (p.Val332Leu) c.8370+134927C>G (n.8370+134927C>G) |