| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108929199_108929380del | CA2586969751 | EDAR,RANBP2 | c.175_356del c.226_407del c.319_500del c.8370+156153_8370+156334del (n.8370+156153_8370+156334del) | |
| 2 | g.108929288C>A | CA348115726 | EDAR,RANBP2 | c.266G>T (p.Arg89Leu) c.317G>T (p.Arg106Leu) c.410G>T (p.Arg137Leu) c.8370+156242C>A (n.8370+156242C>A) | gnomAD v4 |
| 2 | g.108929288C= | CA1278368554 | EDAR,RANBP2 | c.266G= (p.Arg89=) c.317G= (p.Arg106=) c.410G= (p.Arg137=) c.8370+156242C= (n.8370+156242C=) | |
| 2 | g.108929288C>G | CA348115727 | EDAR,RANBP2 | c.266G>C (p.Arg89Pro) c.317G>C (p.Arg106Pro) c.410G>C (p.Arg137Pro) c.8370+156242C>G (n.8370+156242C>G) | |
| 2 | g.108929288C>T | CA130257 | EDAR,RANBP2 | c.266G>A (p.Arg89His) c.317G>A (p.Arg106His) c.410G>A (p.Arg137His) c.8370+156242C>T (n.8370+156242C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929289G>A | CA1825141 | EDAR,RANBP2 | c.265C>T (p.Arg89Cys) c.316C>T (p.Arg106Cys) c.409C>T (p.Arg137Cys) c.8370+156243G>A (n.8370+156243G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.108929289G>C | CA348115728 | EDAR,RANBP2 | c.265C>G (p.Arg89Gly) c.316C>G (p.Arg106Gly) c.409C>G (p.Arg137Gly) c.8370+156243G>C (n.8370+156243G>C) | |
| 2 | g.108929289G= | CA1278368555 | EDAR,RANBP2 | c.265C= (p.Arg89=) c.316C= (p.Arg106=) c.409C= (p.Arg137=) c.8370+156243G= (n.8370+156243G=) | |
| 2 | g.108929289G>T | CA54012146 | EDAR,RANBP2 | c.265C>A (p.Arg89Ser) c.316C>A (p.Arg106Ser) c.409C>A (p.Arg137Ser) c.8370+156243G>T (n.8370+156243G>T) | dbSNP gnomAD v4 |
| 2 | g.108929290C>A | CA348115730 | EDAR,RANBP2 | c.264G>T (p.Arg88Ser) c.315G>T (p.Arg105Ser) c.408G>T (p.Arg136Ser) c.8370+156244C>A (n.8370+156244C>A) | |
| 2 | g.108929290C>G | CA348115729 | EDAR,RANBP2 | c.264G>C (p.Arg88Ser) c.315G>C (p.Arg105Ser) c.408G>C (p.Arg136Ser) c.8370+156244C>G (n.8370+156244C>G) | |
| 2 | g.108929290C>T | CA428086850 | EDAR,RANBP2 | c.264G>A (p.Arg88=) c.315G>A (p.Arg105=) c.408G>A (p.Arg136=) c.8370+156244C>T (n.8370+156244C>T) | |
| 2 | g.108929291C>A | CA348115731 | EDAR,RANBP2 | c.263G>T (p.Arg88Met) c.314G>T (p.Arg105Met) c.407G>T (p.Arg136Met) c.8370+156245C>A (n.8370+156245C>A) | |
| 2 | g.108929291C>G | CA348115732 | EDAR,RANBP2 | c.263G>C (p.Arg88Thr) c.314G>C (p.Arg105Thr) c.407G>C (p.Arg136Thr) c.8370+156245C>G (n.8370+156245C>G) | |
| 2 | g.108929291C>T | CA348115733 | EDAR,RANBP2 | c.263G>A (p.Arg88Lys) c.314G>A (p.Arg105Lys) c.407G>A (p.Arg136Lys) c.8370+156245C>T (n.8370+156245C>T) | |
| 2 | g.108929292T>A | CA348115734 | EDAR,RANBP2 | c.262A>T (p.Arg88Trp) c.313A>T (p.Arg105Trp) c.406A>T (p.Arg136Trp) c.8370+156246T>A (n.8370+156246T>A) | |
| 2 | g.108929292T>C | CA348115735 | EDAR,RANBP2 | c.262A>G (p.Arg88Gly) c.313A>G (p.Arg105Gly) c.406A>G (p.Arg136Gly) c.8370+156246T>C (n.8370+156246T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108929292T>G | CA428086851 | EDAR,RANBP2 | c.262A>C (p.Arg88=) c.313A>C (p.Arg105=) c.406A>C (p.Arg136=) c.8370+156246T>G (n.8370+156246T>G) | |
| 2 | g.108929292T= | CA1278368556 | EDAR,RANBP2 | c.262A= (p.Arg88=) c.313A= (p.Arg105=) c.406A= (p.Arg136=) c.8370+156246T= (n.8370+156246T=) | |
| 2 | g.108929293G>A | CA428086852 | EDAR,RANBP2 | c.261C>T (p.Cys87=) c.312C>T (p.Cys104=) c.405C>T (p.Cys135=) c.8370+156247G>A (n.8370+156247G>A) | |
| 2 | g.108929293G>C | CA348115736 | EDAR,RANBP2 | c.261C>G (p.Cys87Trp) c.312C>G (p.Cys104Trp) c.405C>G (p.Cys135Trp) c.8370+156247G>C (n.8370+156247G>C) | |
| 2 | g.108929293G>T | CA348115737 | EDAR,RANBP2 | c.261C>A (p.Cys87Ter) c.312C>A (p.Cys104Ter) c.405C>A (p.Cys135Ter) c.8370+156247G>T (n.8370+156247G>T) | |
| 2 | g.108929294C>A | CA348115738 | EDAR,RANBP2 | c.260G>T (p.Cys87Phe) c.311G>T (p.Cys104Phe) c.404G>T (p.Cys135Phe) c.8370+156248C>A (n.8370+156248C>A) | |
| 2 | g.108929294C>G | CA348115740 | EDAR,RANBP2 | c.260G>C (p.Cys87Ser) c.311G>C (p.Cys104Ser) c.404G>C (p.Cys135Ser) c.8370+156248C>G (n.8370+156248C>G) | |
| 2 | g.108929294C>T | CA348115739 | EDAR,RANBP2 | c.260G>A (p.Cys87Tyr) c.311G>A (p.Cys104Tyr) c.404G>A (p.Cys135Tyr) c.8370+156248C>T (n.8370+156248C>T) | |
| 2 | g.108929295A= | CA1278368557 | EDAR,RANBP2 | c.259T= (p.Cys87=) c.310T= (p.Cys104=) c.403T= (p.Cys135=) c.8370+156249A= (n.8370+156249A=) | |
| 2 | g.108929295A>C | CA348115741 | EDAR,RANBP2 | c.259T>G (p.Cys87Gly) c.310T>G (p.Cys104Gly) c.403T>G (p.Cys135Gly) c.8370+156249A>C (n.8370+156249A>C) | ClinVar |
| 2 | g.108929295A>G | CA253629 | EDAR,RANBP2 | c.259T>C (p.Cys87Arg) c.310T>C (p.Cys104Arg) c.403T>C (p.Cys135Arg) c.8370+156249A>G (n.8370+156249A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929295A>T | CA348115742 | EDAR,RANBP2 | c.259T>A (p.Cys87Ser) c.310T>A (p.Cys104Ser) c.403T>A (p.Cys135Ser) c.8370+156249A>T (n.8370+156249A>T) | |
| 2 | g.108929296T>A | CA428086853 | EDAR,RANBP2 | c.258A>T (p.Ile86=) c.309A>T (p.Ile103=) c.402A>T (p.Ile134=) c.8370+156250T>A (n.8370+156250T>A) | |
| 2 | g.108929296T>C | CA348115743 | EDAR,RANBP2 | c.258A>G (p.Ile86Met) c.309A>G (p.Ile103Met) c.402A>G (p.Ile134Met) c.8370+156250T>C (n.8370+156250T>C) | |
| 2 | g.108929296T>G | CA428086854 | EDAR,RANBP2 | c.258A>C (p.Ile86=) c.309A>C (p.Ile103=) c.402A>C (p.Ile134=) c.8370+156250T>G (n.8370+156250T>G) | |
| 2 | g.108929297A>C | CA348115744 | EDAR,RANBP2 | c.257T>G (p.Ile86Arg) c.308T>G (p.Ile103Arg) c.401T>G (p.Ile134Arg) c.8370+156251A>C (n.8370+156251A>C) | |
| 2 | g.108929297A>G | CA348115746 | EDAR,RANBP2 | c.257T>C (p.Ile86Thr) c.308T>C (p.Ile103Thr) c.401T>C (p.Ile134Thr) c.8370+156251A>G (n.8370+156251A>G) | |
| 2 | g.108929297A>T | CA348115745 | EDAR,RANBP2 | c.257T>A (p.Ile86Lys) c.308T>A (p.Ile103Lys) c.401T>A (p.Ile134Lys) c.8370+156251A>T (n.8370+156251A>T) | |
| 2 | g.108929298T>A | CA348115747 | EDAR,RANBP2 | c.256A>T (p.Ile86Leu) c.307A>T (p.Ile103Leu) c.400A>T (p.Ile134Leu) c.8370+156252T>A (n.8370+156252T>A) | |
| 2 | g.108929298T>C | CA348115748 | EDAR,RANBP2 | c.256A>G (p.Ile86Val) c.307A>G (p.Ile103Val) c.400A>G (p.Ile134Val) c.8370+156252T>C (n.8370+156252T>C) | |
| 2 | g.108929298T>G | CA348115749 | EDAR,RANBP2 | c.256A>C (p.Ile86Leu) c.307A>C (p.Ile103Leu) c.400A>C (p.Ile134Leu) c.8370+156252T>G (n.8370+156252T>G) | gnomAD v4 |
| 2 | g.108929299C>A | CA348115750 | EDAR,RANBP2 | c.255G>T (p.Gln85His) c.306G>T (p.Gln102His) c.399G>T (p.Gln133His) c.8370+156253C>A (n.8370+156253C>A) | gnomAD v4 |
| 2 | g.108929299C>G | CA348115751 | EDAR,RANBP2 | c.255G>C (p.Gln85His) c.306G>C (p.Gln102His) c.399G>C (p.Gln133His) c.8370+156253C>G (n.8370+156253C>G) | |
| 2 | g.108929299C>T | CA428086855 | EDAR,RANBP2 | c.255G>A (p.Gln85=) c.306G>A (p.Gln102=) c.399G>A (p.Gln133=) c.8370+156253C>T (n.8370+156253C>T) | |
| 2 | g.108929300T>A | CA348115752 | EDAR,RANBP2 | c.254A>T (p.Gln85Leu) c.305A>T (p.Gln102Leu) c.398A>T (p.Gln133Leu) c.8370+156254T>A (n.8370+156254T>A) | |
| 2 | g.108929300T>C | CA348115753 | EDAR,RANBP2 | c.254A>G (p.Gln85Arg) c.305A>G (p.Gln102Arg) c.398A>G (p.Gln133Arg) c.8370+156254T>C (n.8370+156254T>C) | |
| 2 | g.108929300T>G | CA348115754 | EDAR,RANBP2 | c.254A>C (p.Gln85Pro) c.305A>C (p.Gln102Pro) c.398A>C (p.Gln133Pro) c.8370+156254T>G (n.8370+156254T>G) | |
| 2 | g.108929301G>A | CA348115755 | EDAR,RANBP2 | c.253C>T (p.Gln85Ter) c.304C>T (p.Gln102Ter) c.397C>T (p.Gln133Ter) c.8370+156255G>A (n.8370+156255G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929301G>C | CA348115756 | EDAR,RANBP2 | c.253C>G (p.Gln85Glu) c.304C>G (p.Gln102Glu) c.397C>G (p.Gln133Glu) c.8370+156255G>C (n.8370+156255G>C) | |
| 2 | g.108929301G= | CA1278368558 | EDAR,RANBP2 | c.253C= (p.Gln85=) c.304C= (p.Gln102=) c.397C= (p.Gln133=) c.8370+156255G= (n.8370+156255G=) | |
| 2 | g.108929301G>T | CA348115757 | EDAR,RANBP2 | c.253C>A (p.Gln85Lys) c.304C>A (p.Gln102Lys) c.397C>A (p.Gln133Lys) c.8370+156255G>T (n.8370+156255G>T) | |
| 2 | g.108929302G>A | CA428086856 | EDAR,RANBP2 | c.252C>T (p.Tyr84=) c.303C>T (p.Tyr101=) c.396C>T (p.Tyr132=) c.8370+156256G>A (n.8370+156256G>A) | |
| 2 | g.108929302G>C | CA348115758 | EDAR,RANBP2 | c.252C>G (p.Tyr84Ter) c.303C>G (p.Tyr101Ter) c.396C>G (p.Tyr132Ter) c.8370+156256G>C (n.8370+156256G>C) |