| 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.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) | |
| 2 | g.108929302G>T | CA348115759 | EDAR,RANBP2 | c.252C>A (p.Tyr84Ter) c.303C>A (p.Tyr101Ter) c.396C>A (p.Tyr132Ter) c.8370+156256G>T (n.8370+156256G>T) | |
| 2 | g.108929303T>A | CA348115762 | EDAR,RANBP2 | c.251A>T (p.Tyr84Phe) c.302A>T (p.Tyr101Phe) c.395A>T (p.Tyr132Phe) c.8370+156257T>A (n.8370+156257T>A) | |
| 2 | g.108929303T>C | CA348115760 | EDAR,RANBP2 | c.251A>G (p.Tyr84Cys) c.302A>G (p.Tyr101Cys) c.395A>G (p.Tyr132Cys) c.8370+156257T>C (n.8370+156257T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108929303T>G | CA348115761 | EDAR,RANBP2 | c.251A>C (p.Tyr84Ser) c.302A>C (p.Tyr101Ser) c.395A>C (p.Tyr132Ser) c.8370+156257T>G (n.8370+156257T>G) | |
| 2 | g.108929303T= | CA1278368559 | EDAR,RANBP2 | c.251A= (p.Tyr84=) c.302A= (p.Tyr101=) c.395A= (p.Tyr132=) c.8370+156257T= (n.8370+156257T=) | |
| 2 | g.108929304A>C | CA348115763 | EDAR,RANBP2 | c.250T>G (p.Tyr84Asp) c.301T>G (p.Tyr101Asp) c.394T>G (p.Tyr132Asp) c.8370+156258A>C (n.8370+156258A>C) | |
| 2 | g.108929304A>G | CA348115764 | EDAR,RANBP2 | c.250T>C (p.Tyr84His) c.301T>C (p.Tyr101His) c.394T>C (p.Tyr132His) c.8370+156258A>G (n.8370+156258A>G) | |
| 2 | g.108929304A>T | CA348115765 | EDAR,RANBP2 | c.250T>A (p.Tyr84Asn) c.301T>A (p.Tyr101Asn) c.394T>A (p.Tyr132Asn) c.8370+156258A>T (n.8370+156258A>T) | |
| 2 | g.108929305G>A | CA428086857 | EDAR,RANBP2 | c.249C>T (p.Gly83=) c.300C>T (p.Gly100=) c.393C>T (p.Gly131=) c.8370+156259G>A (n.8370+156259G>A) | |
| 2 | g.108929305G>C | CA428086859 | EDAR,RANBP2 | c.249C>G (p.Gly83=) c.300C>G (p.Gly100=) c.393C>G (p.Gly131=) c.8370+156259G>C (n.8370+156259G>C) | |
| 2 | g.108929305G>T | CA428086858 | EDAR,RANBP2 | c.249C>A (p.Gly83=) c.300C>A (p.Gly100=) c.393C>A (p.Gly131=) c.8370+156259G>T (n.8370+156259G>T) | |
| 2 | g.108929306C>A | CA348115766 | EDAR,RANBP2 | c.248G>T (p.Gly83Val) c.299G>T (p.Gly100Val) c.392G>T (p.Gly131Val) c.8370+156260C>A (n.8370+156260C>A) | |
| 2 | g.108929306C= | CA1278368560 | EDAR,RANBP2 | c.248G= (p.Gly83=) c.299G= (p.Gly100=) c.392G= (p.Gly131=) c.8370+156260C= (n.8370+156260C=) | |
| 2 | g.108929306C>G | CA348115767 | EDAR,RANBP2 | c.248G>C (p.Gly83Ala) c.299G>C (p.Gly100Ala) c.392G>C (p.Gly131Ala) c.8370+156260C>G (n.8370+156260C>G) | |
| 2 | g.108929306C>T | CA54012147 | EDAR,RANBP2 | c.248G>A (p.Gly83Asp) c.299G>A (p.Gly100Asp) c.392G>A (p.Gly131Asp) c.8370+156260C>T (n.8370+156260C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929307C>A | CA348115768 | EDAR,RANBP2 | c.247G>T (p.Gly83Cys) c.298G>T (p.Gly100Cys) c.391G>T (p.Gly131Cys) c.8370+156261C>A (n.8370+156261C>A) | dbSNP |
| 2 | g.108929307C= | CA1278368561 | EDAR,RANBP2 | c.247G= (p.Gly83=) c.298G= (p.Gly100=) c.391G= (p.Gly131=) c.8370+156261C= (n.8370+156261C=) | |
| 2 | g.108929307C>G | CA348115769 | EDAR,RANBP2 | c.247G>C (p.Gly83Arg) c.298G>C (p.Gly100Arg) c.391G>C (p.Gly131Arg) c.8370+156261C>G (n.8370+156261C>G) | |
| 2 | g.108929307C>T | CA348115770 | EDAR,RANBP2 | c.247G>A (p.Gly83Ser) c.298G>A (p.Gly100Ser) c.391G>A (p.Gly131Ser) c.8370+156261C>T (n.8370+156261C>T) | dbSNP |
| 2 | g.108929308T>A | CA428086860 | EDAR,RANBP2 | c.246A>T (p.Gly82=) c.297A>T (p.Gly99=) c.390A>T (p.Gly130=) c.8370+156262T>A (n.8370+156262T>A) | |
| 2 | g.108929308T>C | CA428086861 | EDAR,RANBP2 | c.246A>G (p.Gly82=) c.297A>G (p.Gly99=) c.390A>G (p.Gly130=) c.8370+156262T>C (n.8370+156262T>C) | |
| 2 | g.108929308T>G | CA428086862 | EDAR,RANBP2 | c.246A>C (p.Gly82=) c.297A>C (p.Gly99=) c.390A>C (p.Gly130=) c.8370+156262T>G (n.8370+156262T>G) | |
| 2 | g.108929309C>A | CA348115771 | EDAR,RANBP2 | c.245G>T (p.Gly82Val) c.296G>T (p.Gly99Val) c.389G>T (p.Gly130Val) c.8370+156263C>A (n.8370+156263C>A) | |
| 2 | g.108929309C>G | CA348115772 | EDAR,RANBP2 | c.245G>C (p.Gly82Ala) c.296G>C (p.Gly99Ala) c.389G>C (p.Gly130Ala) c.8370+156263C>G (n.8370+156263C>G) |