Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108907959_108907961delCA2577065589EDAR,RANBP2c.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)
2g.108907958C>ACA348051034EDAR,RANBP2c.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)
2g.108907958C>GCA348051035EDAR,RANBP2c.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)
2g.108907958C>TCA348051036EDAR,RANBP2c.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
2g.108907959C>ACA348051037EDAR,RANBP2c.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)
2g.108907959C>GCA348051038EDAR,RANBP2c.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)
2g.108907959C>TCA427911950EDAR,RANBP2c.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)
2g.108907960T>ACA348051039EDAR,RANBP2c.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)
2g.108907960T>CCA348051040EDAR,RANBP2c.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)
2g.108907960T>GCA348051041EDAR,RANBP2c.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)
2g.108907961C>ACA348051043EDAR,RANBP2c.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)
2g.108907961C>GCA348051044EDAR,RANBP2c.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)
2g.108907961C>TCA348051042EDAR,RANBP2c.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)
2g.108907962A>CCA348051045EDAR,RANBP2c.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)
2g.108907962A>GCA427911951EDAR,RANBP2c.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)
2g.108907962A>TCA348051046EDAR,RANBP2c.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)
2g.108907963T>ACA348051047EDAR,RANBP2c.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)
2g.108907963T>CCA348051048EDAR,RANBP2c.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)
2g.108907963T>GCA348051049EDAR,RANBP2c.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)
2g.108907964C>ACA348051050EDAR,RANBP2c.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)
2g.108907964C>GCA348051051EDAR,RANBP2c.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)
2g.108907964C>TCA348051052EDAR,RANBP2c.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)
2g.108907965A>CCA348051053EDAR,RANBP2c.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)
2g.108907965A>GCA427911952EDAR,RANBP2c.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)
2g.108907965A>TCA348051054EDAR,RANBP2c.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)
2g.108907966C>ACA348051055EDAR,RANBP2c.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)
2g.108907966C=CA1278358969EDAR,RANBP2c.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=)
2g.108907966C>GCA53473326EDAR,RANBP2c.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
2g.108907966C>TCA348051056EDAR,RANBP2c.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
2g.108907967T>ACA348051059EDAR,RANBP2c.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)
2g.108907967T>CCA348051058EDAR,RANBP2c.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)
2g.108907967T>GCA348051057EDAR,RANBP2c.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)
2g.108907968G>ACA427911953EDAR,RANBP2c.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
2g.108907968G>CCA348051060EDAR,RANBP2c.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
2g.108907968G=CA1278358970EDAR,RANBP2c.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=)
2g.108907968G>TCA348051061EDAR,RANBP2c.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)
2g.108907969T>ACA348051062EDAR,RANBP2c.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)
2g.108907969T>CCA348051063EDAR,RANBP2c.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)
2g.108907969T>GCA348051064EDAR,RANBP2c.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)
2g.108907970C>ACA348051065EDAR,RANBP2c.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
2g.108907970C=CA1278358971EDAR,RANBP2c.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=)
2g.108907970C>GCA348051066EDAR,RANBP2c.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)
2g.108907970C>TCA348051067EDAR,RANBP2c.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
2g.108907971G>ACA1824901EDAR,RANBP2c.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
2g.108907971G>CCA427911955EDAR,RANBP2c.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
2g.108907971G=CA1278358972EDAR,RANBP2c.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=)
2g.108907971G>TCA427911954EDAR,RANBP2c.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)
2g.108907972A>CCA348051068EDAR,RANBP2c.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)
2g.108907972A>GCA348051069EDAR,RANBP2c.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)
2g.108907972A>TCA348051070EDAR,RANBP2c.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)

Number of alleles fetched