| 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.108929272del | CA16616897 | EDAR,RANBP2 | c.284del (p.Gly95AlafsTer8) c.335del (p.Gly112AlafsTer8) c.428del (p.Gly143AlafsTer8) c.8370+156226del (n.8370+156226del) | ClinVar dbSNP |
| 2 | g.108929272C>A | CA348115688 | EDAR,RANBP2 | c.282G>T (p.Glu94Asp) c.333G>T (p.Glu111Asp) c.426G>T (p.Glu142Asp) c.8370+156226C>A (n.8370+156226C>A) | |
| 2 | g.108929272C>G | CA348115689 | EDAR,RANBP2 | c.282G>C (p.Glu94Asp) c.333G>C (p.Glu111Asp) c.426G>C (p.Glu142Asp) c.8370+156226C>G (n.8370+156226C>G) | |
| 2 | g.108929272C>T | CA428086842 | EDAR,RANBP2 | c.282G>A (p.Glu94=) c.333G>A (p.Glu111=) c.426G>A (p.Glu142=) c.8370+156226C>T (n.8370+156226C>T) | gnomAD v4 |
| 2 | g.108929273T>A | CA348115690 | EDAR,RANBP2 | c.281A>T (p.Glu94Val) c.332A>T (p.Glu111Val) c.425A>T (p.Glu142Val) c.8370+156227T>A (n.8370+156227T>A) | |
| 2 | g.108929273T>C | CA348115691 | EDAR,RANBP2 | c.281A>G (p.Glu94Gly) c.332A>G (p.Glu111Gly) c.425A>G (p.Glu142Gly) c.8370+156227T>C (n.8370+156227T>C) | |
| 2 | g.108929273T>G | CA348115692 | EDAR,RANBP2 | c.281A>C (p.Glu94Ala) c.332A>C (p.Glu111Ala) c.425A>C (p.Glu142Ala) c.8370+156227T>G (n.8370+156227T>G) | |
| 2 | g.108929274C>A | CA348115693 | EDAR,RANBP2 | c.280G>T (p.Glu94Ter) c.331G>T (p.Glu111Ter) c.424G>T (p.Glu142Ter) c.8370+156228C>A (n.8370+156228C>A) | |
| 2 | g.108929274C>G | CA348115694 | EDAR,RANBP2 | c.280G>C (p.Glu94Gln) c.331G>C (p.Glu111Gln) c.424G>C (p.Glu142Gln) c.8370+156228C>G (n.8370+156228C>G) | |
| 2 | g.108929274C>T | CA348115695 | EDAR,RANBP2 | c.280G>A (p.Glu94Lys) c.331G>A (p.Glu111Lys) c.424G>A (p.Glu142Lys) c.8370+156228C>T (n.8370+156228C>T) | |
| 2 | g.108929275A= | CA1278368548 | EDAR,RANBP2 | c.279T= (p.Cys93=) c.330T= (p.Cys110=) c.423T= (p.Cys141=) c.8370+156229A= (n.8370+156229A=) | |
| 2 | g.108929275A>C | CA1825139 | EDAR,RANBP2 | c.279T>G (p.Cys93Trp) c.330T>G (p.Cys110Trp) c.423T>G (p.Cys141Trp) c.8370+156229A>C (n.8370+156229A>C) | dbSNP ExAC gnomAD v4 |
| 2 | g.108929275A>G | CA428086843 | EDAR,RANBP2 | c.279T>C (p.Cys93=) c.330T>C (p.Cys110=) c.423T>C (p.Cys141=) c.8370+156229A>G (n.8370+156229A>G) | gnomAD v4 |
| 2 | g.108929275A>T | CA348115696 | EDAR,RANBP2 | c.279T>A (p.Cys93Ter) c.330T>A (p.Cys110Ter) c.423T>A (p.Cys141Ter) c.8370+156229A>T (n.8370+156229A>T) | |
| 2 | g.108929276C>A | CA348115697 | EDAR,RANBP2 | c.278G>T (p.Cys93Phe) c.329G>T (p.Cys110Phe) c.422G>T (p.Cys141Phe) c.8370+156230C>A (n.8370+156230C>A) | |
| 2 | g.108929276C= | CA1278368549 | EDAR,RANBP2 | c.278G= (p.Cys93=) c.329G= (p.Cys110=) c.422G= (p.Cys141=) c.8370+156230C= (n.8370+156230C=) | |
| 2 | g.108929276C>G | CA348115698 | EDAR,RANBP2 | c.278G>C (p.Cys93Ser) c.329G>C (p.Cys110Ser) c.422G>C (p.Cys141Ser) c.8370+156230C>G (n.8370+156230C>G) | ClinVar dbSNP |
| 2 | g.108929276C>T | CA348115699 | EDAR,RANBP2 | c.278G>A (p.Cys93Tyr) c.329G>A (p.Cys110Tyr) c.422G>A (p.Cys141Tyr) c.8370+156230C>T (n.8370+156230C>T) | |
| 2 | g.108929277A= | CA1278368550 | EDAR,RANBP2 | c.277T= (p.Cys93=) c.328T= (p.Cys110=) c.421T= (p.Cys141=) c.8370+156231A= (n.8370+156231A=) | |
| 2 | g.108929277A>C | CA348115702 | EDAR,RANBP2 | c.277T>G (p.Cys93Gly) c.328T>G (p.Cys110Gly) c.421T>G (p.Cys141Gly) c.8370+156231A>C (n.8370+156231A>C) | |
| 2 | g.108929277A>G | CA348115701 | EDAR,RANBP2 | c.277T>C (p.Cys93Arg) c.328T>C (p.Cys110Arg) c.421T>C (p.Cys141Arg) c.8370+156231A>G (n.8370+156231A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.108929277A>T | CA348115700 | EDAR,RANBP2 | c.277T>A (p.Cys93Ser) c.328T>A (p.Cys110Ser) c.421T>A (p.Cys141Ser) c.8370+156231A>T (n.8370+156231A>T) | |
| 2 | g.108929278G>A | CA428086844 | EDAR,RANBP2 | c.276C>T (p.Asp92=) c.327C>T (p.Asp109=) c.420C>T (p.Asp140=) c.8370+156232G>A (n.8370+156232G>A) | |
| 2 | g.108929278G>C | CA348115703 | EDAR,RANBP2 | c.276C>G (p.Asp92Glu) c.327C>G (p.Asp109Glu) c.420C>G (p.Asp140Glu) c.8370+156232G>C (n.8370+156232G>C) | |
| 2 | g.108929278G>T | CA348115704 | EDAR,RANBP2 | c.276C>A (p.Asp92Glu) c.327C>A (p.Asp109Glu) c.420C>A (p.Asp140Glu) c.8370+156232G>T (n.8370+156232G>T) | |
| 2 | g.108929278_108929279insGCG | CA2586969752 | EDAR,RANBP2 | c.276_277insGCC (p.Asp92_Cys93insAla) c.327_328insGCC (p.Asp109_Cys110insAla) c.420_421insGCC (p.Asp140_Cys141insAla) c.8370+156232_8370+156233insGCG (n.8370+156232_8370+156233insGCG) | |
| 2 | g.108929279T>A | CA348115705 | EDAR,RANBP2 | c.275A>T (p.Asp92Val) c.326A>T (p.Asp109Val) c.419A>T (p.Asp140Val) c.8370+156233T>A (n.8370+156233T>A) | |
| 2 | g.108929279T>C | CA1825140 | EDAR,RANBP2 | c.275A>G (p.Asp92Gly) c.326A>G (p.Asp109Gly) c.419A>G (p.Asp140Gly) c.8370+156233T>C (n.8370+156233T>C) | ClinVar dbSNP ExAC |
| 2 | g.108929279T>G | CA348115706 | EDAR,RANBP2 | c.275A>C (p.Asp92Ala) c.326A>C (p.Asp109Ala) c.419A>C (p.Asp140Ala) c.8370+156233T>G (n.8370+156233T>G) | |
| 2 | g.108929279T= | CA1278368551 | EDAR,RANBP2 | c.275A= (p.Asp92=) c.326A= (p.Asp109=) c.419A= (p.Asp140=) c.8370+156233T= (n.8370+156233T=) | |
| 2 | g.108929280C>A | CA348115707 | EDAR,RANBP2 | c.274G>T (p.Asp92Tyr) c.325G>T (p.Asp109Tyr) c.418G>T (p.Asp140Tyr) c.8370+156234C>A (n.8370+156234C>A) | |
| 2 | g.108929280C>G | CA348115708 | EDAR,RANBP2 | c.274G>C (p.Asp92His) c.325G>C (p.Asp109His) c.418G>C (p.Asp140His) c.8370+156234C>G (n.8370+156234C>G) | |
| 2 | g.108929280C>T | CA348115709 | EDAR,RANBP2 | c.274G>A (p.Asp92Asn) c.325G>A (p.Asp109Asn) c.418G>A (p.Asp140Asn) c.8370+156234C>T (n.8370+156234C>T) | |
| 2 | g.108929281T>A | CA348115710 | EDAR,RANBP2 | c.273A>T (p.Lys91Asn) c.324A>T (p.Lys108Asn) c.417A>T (p.Lys139Asn) c.8370+156235T>A (n.8370+156235T>A) | |
| 2 | g.108929281T>C | CA428086845 | EDAR,RANBP2 | c.273A>G (p.Lys91=) c.324A>G (p.Lys108=) c.417A>G (p.Lys139=) c.8370+156235T>C (n.8370+156235T>C) | dbSNP |
| 2 | g.108929281T>G | CA348115711 | EDAR,RANBP2 | c.273A>C (p.Lys91Asn) c.324A>C (p.Lys108Asn) c.417A>C (p.Lys139Asn) c.8370+156235T>G (n.8370+156235T>G) | |
| 2 | g.108929281T= | CA1278368552 | EDAR,RANBP2 | c.273A= (p.Lys91=) c.324A= (p.Lys108=) c.417A= (p.Lys139=) c.8370+156235T= (n.8370+156235T=) | |
| 2 | g.108929282_108929283del | CA2660611276 | EDAR,RANBP2 | c.272_273del (p.Lys91ArgfsTer3) c.323_324del (p.Lys108ArgfsTer3) c.416_417del (p.Lys139ArgfsTer3) c.8370+156236_8370+156237del (n.8370+156236_8370+156237del) | gnomAD v4 |
| 2 | g.108929282T>A | CA348115712 | EDAR,RANBP2 | c.272A>T (p.Lys91Ile) c.323A>T (p.Lys108Ile) c.416A>T (p.Lys139Ile) c.8370+156236T>A (n.8370+156236T>A) | |
| 2 | g.108929282T>C | CA348115713 | EDAR,RANBP2 | c.272A>G (p.Lys91Arg) c.323A>G (p.Lys108Arg) c.416A>G (p.Lys139Arg) c.8370+156236T>C (n.8370+156236T>C) | gnomAD v4 |
| 2 | g.108929282T>G | CA348115714 | EDAR,RANBP2 | c.272A>C (p.Lys91Thr) c.323A>C (p.Lys108Thr) c.416A>C (p.Lys139Thr) c.8370+156236T>G (n.8370+156236T>G) | |
| 2 | g.108929283T>A | CA348115716 | EDAR,RANBP2 | c.271A>T (p.Lys91Ter) c.322A>T (p.Lys108Ter) c.415A>T (p.Lys139Ter) c.8370+156237T>A (n.8370+156237T>A) | |
| 2 | g.108929283T>C | CA348115717 | EDAR,RANBP2 | c.271A>G (p.Lys91Glu) c.322A>G (p.Lys108Glu) c.415A>G (p.Lys139Glu) c.8370+156237T>C (n.8370+156237T>C) | |
| 2 | g.108929283T>G | CA348115715 | EDAR,RANBP2 | c.271A>C (p.Lys91Gln) c.322A>C (p.Lys108Gln) c.415A>C (p.Lys139Gln) c.8370+156237T>G (n.8370+156237T>G) | |
| 2 | g.108929284G>A | CA428086846 | EDAR,RANBP2 | c.270C>T (p.His90=) c.321C>T (p.His107=) c.414C>T (p.His138=) c.8370+156238G>A (n.8370+156238G>A) | |
| 2 | g.108929284G>C | CA348115718 | EDAR,RANBP2 | c.270C>G (p.His90Gln) c.321C>G (p.His107Gln) c.414C>G (p.His138Gln) c.8370+156238G>C (n.8370+156238G>C) | |
| 2 | g.108929284G>T | CA348115719 | EDAR,RANBP2 | c.270C>A (p.His90Gln) c.321C>A (p.His107Gln) c.414C>A (p.His138Gln) c.8370+156238G>T (n.8370+156238G>T) | |
| 2 | g.108929285T>A | CA348115720 | EDAR,RANBP2 | c.269A>T (p.His90Leu) c.320A>T (p.His107Leu) c.413A>T (p.His138Leu) c.8370+156239T>A (n.8370+156239T>A) | |
| 2 | g.108929285T>C | CA348115721 | EDAR,RANBP2 | c.269A>G (p.His90Arg) c.320A>G (p.His107Arg) c.413A>G (p.His138Arg) c.8370+156239T>C (n.8370+156239T>C) |