| 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.108929348T>A | CA348115853 | EDAR,RANBP2 | c.206A>T (p.Tyr69Phe) c.257A>T (p.Tyr86Phe) c.350A>T (p.Tyr117Phe) c.8370+156302T>A (n.8370+156302T>A) | |
| 2 | g.108929348T>C | CA348115854 | EDAR,RANBP2 | c.206A>G (p.Tyr69Cys) c.257A>G (p.Tyr86Cys) c.350A>G (p.Tyr117Cys) c.8370+156302T>C (n.8370+156302T>C) | |
| 2 | g.108929348T>G | CA348115855 | EDAR,RANBP2 | c.206A>C (p.Tyr69Ser) c.257A>C (p.Tyr86Ser) c.350A>C (p.Tyr117Ser) c.8370+156302T>G (n.8370+156302T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.108929348T= | CA1278368588 | EDAR,RANBP2 | c.206A= (p.Tyr69=) c.257A= (p.Tyr86=) c.350A= (p.Tyr117=) c.8370+156302T= (n.8370+156302T=) | |
| 2 | g.108929349A= | CA1278368589 | EDAR,RANBP2 | c.205T= (p.Tyr69=) c.256T= (p.Tyr86=) c.349T= (p.Tyr117=) c.8370+156303A= (n.8370+156303A=) | |
| 2 | g.108929349A>C | CA348115858 | EDAR,RANBP2 | c.205T>G (p.Tyr69Asp) c.256T>G (p.Tyr86Asp) c.349T>G (p.Tyr117Asp) c.8370+156303A>C (n.8370+156303A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929349A>G | CA348115856 | EDAR,RANBP2 | c.205T>C (p.Tyr69His) c.256T>C (p.Tyr86His) c.349T>C (p.Tyr117His) c.8370+156303A>G (n.8370+156303A>G) | |
| 2 | g.108929349A>T | CA348115857 | EDAR,RANBP2 | c.205T>A (p.Tyr69Asn) c.256T>A (p.Tyr86Asn) c.349T>A (p.Tyr117Asn) c.8370+156303A>T (n.8370+156303A>T) | gnomAD v4 |
| 2 | g.108929349_108929350delinsAG | CA1278368590 | EDAR,RANBP2 | c.204_205delinsCT (p.Asp68=) c.255_256delinsCT (p.Asp85=) c.348_349delinsCT (p.Asp116=) c.8370+156303_8370+156304delinsAG (n.8370+156303_8370+156304delinsAG) | |
| 2 | g.108929350del | CA1278368591 | EDAR,RANBP2 | c.204del (p.Tyr69ThrfsTer?) c.255del (p.Tyr86ThrfsTer?) c.348del (p.Tyr117ThrfsTer?) c.8370+156304del (n.8370+156304del) | ClinVar dbSNP |
| 2 | g.108929350G>A | CA428086889 | EDAR,RANBP2 | c.204C>T (p.Asp68=) c.255C>T (p.Asp85=) c.348C>T (p.Asp116=) c.8370+156304G>A (n.8370+156304G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929350G>C | CA348115859 | EDAR,RANBP2 | c.204C>G (p.Asp68Glu) c.255C>G (p.Asp85Glu) c.348C>G (p.Asp116Glu) c.8370+156304G>C (n.8370+156304G>C) | |
| 2 | g.108929350G= | CA1278368593 | EDAR,RANBP2 | c.204C= (p.Asp68=) c.255C= (p.Asp85=) c.348C= (p.Asp116=) c.8370+156304G= (n.8370+156304G=) | |
| 2 | g.108929350G>T | CA348115860 | EDAR,RANBP2 | c.204C>A (p.Asp68Glu) c.255C>A (p.Asp85Glu) c.348C>A (p.Asp116Glu) c.8370+156304G>T (n.8370+156304G>T) | gnomAD v4 |
| 2 | g.108929350_108929353delinsGTCC | CA1278368592 | EDAR,RANBP2 | c.201_204delinsGGAC (p.Glu67=) c.252_255delinsGGAC (p.Glu84=) c.345_348delinsGGAC (p.Glu115=) c.8370+156304_8370+156307delinsGTCC (n.8370+156304_8370+156307delinsGTCC) | |
| 2 | g.108929351T>A | CA348115861 | EDAR,RANBP2 | c.203A>T (p.Asp68Val) c.254A>T (p.Asp85Val) c.347A>T (p.Asp116Val) c.8370+156305T>A (n.8370+156305T>A) | |
| 2 | g.108929351T>C | CA348115862 | EDAR,RANBP2 | c.203A>G (p.Asp68Gly) c.254A>G (p.Asp85Gly) c.347A>G (p.Asp116Gly) c.8370+156305T>C (n.8370+156305T>C) | |
| 2 | g.108929351T>G | CA348115863 | EDAR,RANBP2 | c.203A>C (p.Asp68Ala) c.254A>C (p.Asp85Ala) c.347A>C (p.Asp116Ala) c.8370+156305T>G (n.8370+156305T>G) | |
| 2 | g.108929353_108929355del | CA754906521 | EDAR,RANBP2 | c.201_203del (p.Glu67del) c.252_254del (p.Glu84del) c.345_347del (p.Glu115del) c.8370+156307_8370+156309del (n.8370+156307_8370+156309del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929352C>A | CA348115864 | EDAR,RANBP2 | c.202G>T (p.Asp68Tyr) c.253G>T (p.Asp85Tyr) c.346G>T (p.Asp116Tyr) c.8370+156306C>A (n.8370+156306C>A) | |
| 2 | g.108929352C>G | CA348115865 | EDAR,RANBP2 | c.202G>C (p.Asp68His) c.253G>C (p.Asp85His) c.346G>C (p.Asp116His) c.8370+156306C>G (n.8370+156306C>G) | |
| 2 | g.108929352C>T | CA348115866 | EDAR,RANBP2 | c.202G>A (p.Asp68Asn) c.253G>A (p.Asp85Asn) c.346G>A (p.Asp116Asn) c.8370+156306C>T (n.8370+156306C>T) | |
| 2 | g.108929352_108929353insTTCGTCTTTGGTGCCGTAGCC | CA2580063722 | EDAR,RANBP2 | c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu) c.253_254insGCTACGGCACCAAAGACGAAG (p.Glu84_Asp85insGlyTyrGlyThrLysAspGlu) c.346_347insGCTACGGCACCAAAGACGAAG (p.Glu115_Asp116insGlyTyrGlyThrLysAspGlu) c.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC (n.8370+156306_8370+156307insTTCGTCTTTGGTGCCGTAGCC) | ClinVar |
| 2 | g.108929353C>A | CA348115867 | EDAR,RANBP2 | c.201G>T (p.Glu67Asp) c.252G>T (p.Glu84Asp) c.345G>T (p.Glu115Asp) c.8370+156307C>A (n.8370+156307C>A) | |
| 2 | g.108929353C>G | CA348115868 | EDAR,RANBP2 | c.201G>C (p.Glu67Asp) c.252G>C (p.Glu84Asp) c.345G>C (p.Glu115Asp) c.8370+156307C>G (n.8370+156307C>G) | |
| 2 | g.108929353C>T | CA428086893 | EDAR,RANBP2 | c.201G>A (p.Glu67=) c.252G>A (p.Glu84=) c.345G>A (p.Glu115=) c.8370+156307C>T (n.8370+156307C>T) | |
| 2 | g.108929354T>A | CA348115869 | EDAR,RANBP2 | c.200A>T (p.Glu67Val) c.251A>T (p.Glu84Val) c.344A>T (p.Glu115Val) c.8370+156308T>A (n.8370+156308T>A) | |
| 2 | g.108929354T>C | CA348115870 | EDAR,RANBP2 | c.200A>G (p.Glu67Gly) c.251A>G (p.Glu84Gly) c.344A>G (p.Glu115Gly) c.8370+156308T>C (n.8370+156308T>C) | |
| 2 | g.108929354T>G | CA348115871 | EDAR,RANBP2 | c.200A>C (p.Glu67Ala) c.251A>C (p.Glu84Ala) c.344A>C (p.Glu115Ala) c.8370+156308T>G (n.8370+156308T>G) | |
| 2 | g.108929355C>A | CA348115874 | EDAR,RANBP2 | c.199G>T (p.Glu67Ter) c.250G>T (p.Glu84Ter) c.343G>T (p.Glu115Ter) c.8370+156309C>A (n.8370+156309C>A) | |
| 2 | g.108929355C= | CA1278368594 | EDAR,RANBP2 | c.199G= (p.Glu67=) c.250G= (p.Glu84=) c.343G= (p.Glu115=) c.8370+156309C= (n.8370+156309C=) | |
| 2 | g.108929355C>G | CA348115872 | EDAR,RANBP2 | c.199G>C (p.Glu67Gln) c.250G>C (p.Glu84Gln) c.343G>C (p.Glu115Gln) c.8370+156309C>G (n.8370+156309C>G) | |
| 2 | g.108929355C>T | CA348115873 | EDAR,RANBP2 | c.199G>A (p.Glu67Lys) c.250G>A (p.Glu84Lys) c.343G>A (p.Glu115Lys) c.8370+156309C>T (n.8370+156309C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.108929356G>A | CA1825154 | EDAR,RANBP2 | c.198C>T (p.Asp66=) c.249C>T (p.Asp83=) c.342C>T (p.Asp114=) c.8370+156310G>A (n.8370+156310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929356G>C | CA348115875 | EDAR,RANBP2 | c.198C>G (p.Asp66Glu) c.249C>G (p.Asp83Glu) c.342C>G (p.Asp114Glu) c.8370+156310G>C (n.8370+156310G>C) | |
| 2 | g.108929356G= | CA1278368595 | EDAR,RANBP2 | c.198C= (p.Asp66=) c.249C= (p.Asp83=) c.342C= (p.Asp114=) c.8370+156310G= (n.8370+156310G=) | |
| 2 | g.108929356G>T | CA348115876 | EDAR,RANBP2 | c.198C>A (p.Asp66Glu) c.249C>A (p.Asp83Glu) c.342C>A (p.Asp114Glu) c.8370+156310G>T (n.8370+156310G>T) | |
| 2 | g.108929358_108929364del | CA2660611278 | EDAR,RANBP2 | c.192_198del (p.Lys65ArgfsTer?) c.243_249del (p.Lys82ArgfsTer?) c.336_342del (p.Lys113ArgfsTer?) c.8370+156312_8370+156318del (n.8370+156312_8370+156318del) | gnomAD v4 |
| 2 | g.108929357T>A | CA348115877 | EDAR,RANBP2 | c.197A>T (p.Asp66Val) c.248A>T (p.Asp83Val) c.341A>T (p.Asp114Val) c.8370+156311T>A (n.8370+156311T>A) | gnomAD v4 |
| 2 | g.108929357T>C | CA348115878 | EDAR,RANBP2 | c.197A>G (p.Asp66Gly) c.248A>G (p.Asp83Gly) c.341A>G (p.Asp114Gly) c.8370+156311T>C (n.8370+156311T>C) | gnomAD v4 |
| 2 | g.108929357T>G | CA348115879 | EDAR,RANBP2 | c.197A>C (p.Asp66Ala) c.248A>C (p.Asp83Ala) c.341A>C (p.Asp114Ala) c.8370+156311T>G (n.8370+156311T>G) | |
| 2 | g.108929357T= | CA1278368596 | EDAR,RANBP2 | c.197A= (p.Asp66=) c.248A= (p.Asp83=) c.341A= (p.Asp114=) c.8370+156311T= (n.8370+156311T=) | |
| 2 | g.108929358C>A | CA348115880 | EDAR,RANBP2 | c.196G>T (p.Asp66Tyr) c.247G>T (p.Asp83Tyr) c.340G>T (p.Asp114Tyr) c.8370+156312C>A (n.8370+156312C>A) | |
| 2 | g.108929358C>G | CA348115881 | EDAR,RANBP2 | c.196G>C (p.Asp66His) c.247G>C (p.Asp83His) c.340G>C (p.Asp114His) c.8370+156312C>G (n.8370+156312C>G) | |
| 2 | g.108929358C>T | CA348115882 | EDAR,RANBP2 | c.196G>A (p.Asp66Asn) c.247G>A (p.Asp83Asn) c.340G>A (p.Asp114Asn) c.8370+156312C>T (n.8370+156312C>T) | |
| 2 | g.108929358dup | CA1825155 | EDAR,RANBP2 | c.196dup (p.Asp66GlyfsTer29) c.247dup (p.Asp83GlyfsTer29) c.340dup (p.Asp114GlyfsTer29) c.8370+156312dup (n.8370+156312dup) | dbSNP ExAC |
| 2 | g.108929359T>A | CA348115883 | EDAR,RANBP2 | c.195A>T (p.Lys65Asn) c.246A>T (p.Lys82Asn) c.339A>T (p.Lys113Asn) c.8370+156313T>A (n.8370+156313T>A) | |
| 2 | g.108929359T>C | CA428086898 | EDAR,RANBP2 | c.195A>G (p.Lys65=) c.246A>G (p.Lys82=) c.339A>G (p.Lys113=) c.8370+156313T>C (n.8370+156313T>C) | |
| 2 | g.108929359T>G | CA348115884 | EDAR,RANBP2 | c.195A>C (p.Lys65Asn) c.246A>C (p.Lys82Asn) c.339A>C (p.Lys113Asn) c.8370+156313T>G (n.8370+156313T>G) |