| 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.108929242T>A | CA428086818 | EDAR,RANBP2 | c.312A>T (p.Pro104=) c.363A>T (p.Pro121=) c.456A>T (p.Pro152=) c.8370+156196T>A (n.8370+156196T>A) | |
| 2 | g.108929242T>C | CA428086820 | EDAR,RANBP2 | c.312A>G (p.Pro104=) c.363A>G (p.Pro121=) c.456A>G (p.Pro152=) c.8370+156196T>C (n.8370+156196T>C) | |
| 2 | g.108929242T>G | CA428086819 | EDAR,RANBP2 | c.312A>C (p.Pro104=) c.363A>C (p.Pro121=) c.456A>C (p.Pro152=) c.8370+156196T>G (n.8370+156196T>G) | |
| 2 | g.108929243G>A | CA348115633 | EDAR,RANBP2 | c.311C>T (p.Pro104Leu) c.362C>T (p.Pro121Leu) c.455C>T (p.Pro152Leu) c.8370+156197G>A (n.8370+156197G>A) | |
| 2 | g.108929243G>C | CA348115634 | EDAR,RANBP2 | c.311C>G (p.Pro104Arg) c.362C>G (p.Pro121Arg) c.455C>G (p.Pro152Arg) c.8370+156197G>C (n.8370+156197G>C) | |
| 2 | g.108929243G>T | CA348115635 | EDAR,RANBP2 | c.311C>A (p.Pro104Gln) c.362C>A (p.Pro121Gln) c.455C>A (p.Pro152Gln) c.8370+156197G>T (n.8370+156197G>T) | |
| 2 | g.108929244G>A | CA348115636 | EDAR,RANBP2 | c.310C>T (p.Pro104Ser) c.361C>T (p.Pro121Ser) c.454C>T (p.Pro152Ser) c.8370+156198G>A (n.8370+156198G>A) | |
| 2 | g.108929244G>C | CA348115638 | EDAR,RANBP2 | c.310C>G (p.Pro104Ala) c.361C>G (p.Pro121Ala) c.454C>G (p.Pro152Ala) c.8370+156198G>C (n.8370+156198G>C) | |
| 2 | g.108929244G>T | CA348115637 | EDAR,RANBP2 | c.310C>A (p.Pro104Thr) c.361C>A (p.Pro121Thr) c.454C>A (p.Pro152Thr) c.8370+156198G>T (n.8370+156198G>T) | |
| 2 | g.108929245T>A | CA428086821 | EDAR,RANBP2 | c.309A>T (p.Thr103=) c.360A>T (p.Thr120=) c.453A>T (p.Thr151=) c.8370+156199T>A (n.8370+156199T>A) | |
| 2 | g.108929245T>C | CA428086822 | EDAR,RANBP2 | c.309A>G (p.Thr103=) c.360A>G (p.Thr120=) c.453A>G (p.Thr151=) c.8370+156199T>C (n.8370+156199T>C) | |
| 2 | g.108929245T>G | CA428086823 | EDAR,RANBP2 | c.309A>C (p.Thr103=) c.360A>C (p.Thr120=) c.453A>C (p.Thr151=) c.8370+156199T>G (n.8370+156199T>G) | |
| 2 | g.108929245dup | CA2700333675 | EDAR,RANBP2 | c.309dup (p.Pro104ThrfsTer7) c.360dup (p.Pro121ThrfsTer7) c.453dup (p.Pro152ThrfsTer7) c.8370+156199dup (n.8370+156199dup) | dbSNP |
| 2 | g.108929246G>A | CA348115639 | EDAR,RANBP2 | c.308C>T (p.Thr103Ile) c.359C>T (p.Thr120Ile) c.452C>T (p.Thr151Ile) c.8370+156200G>A (n.8370+156200G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929246G>C | CA348115640 | EDAR,RANBP2 | c.308C>G (p.Thr103Arg) c.359C>G (p.Thr120Arg) c.452C>G (p.Thr151Arg) c.8370+156200G>C (n.8370+156200G>C) | |
| 2 | g.108929246G= | CA1278368533 | EDAR,RANBP2 | c.308C= (p.Thr103=) c.359C= (p.Thr120=) c.452C= (p.Thr151=) c.8370+156200G= (n.8370+156200G=) | |
| 2 | g.108929246G>T | CA348115641 | EDAR,RANBP2 | c.308C>A (p.Thr103Lys) c.359C>A (p.Thr120Lys) c.452C>A (p.Thr151Lys) c.8370+156200G>T (n.8370+156200G>T) | |
| 2 | g.108929247T>A | CA348115642 | EDAR,RANBP2 | c.307A>T (p.Thr103Ser) c.358A>T (p.Thr120Ser) c.451A>T (p.Thr151Ser) c.8370+156201T>A (n.8370+156201T>A) | |
| 2 | g.108929247T>C | CA348115643 | EDAR,RANBP2 | c.307A>G (p.Thr103Ala) c.358A>G (p.Thr120Ala) c.451A>G (p.Thr151Ala) c.8370+156201T>C (n.8370+156201T>C) | |
| 2 | g.108929247T>G | CA348115644 | EDAR,RANBP2 | c.307A>C (p.Thr103Pro) c.358A>C (p.Thr120Pro) c.451A>C (p.Thr151Pro) c.8370+156201T>G (n.8370+156201T>G) | |
| 2 | g.108929248C>A | CA428086824 | EDAR,RANBP2 | c.306G>T (p.Leu102=) c.357G>T (p.Leu119=) c.450G>T (p.Leu150=) c.8370+156202C>A (n.8370+156202C>A) | |
| 2 | g.108929248C= | CA1278368534 | EDAR,RANBP2 | c.306G= (p.Leu102=) c.357G= (p.Leu119=) c.450G= (p.Leu150=) c.8370+156202C= (n.8370+156202C=) | |
| 2 | g.108929248C>G | CA428086825 | EDAR,RANBP2 | c.306G>C (p.Leu102=) c.357G>C (p.Leu119=) c.450G>C (p.Leu150=) c.8370+156202C>G (n.8370+156202C>G) | |
| 2 | g.108929248C>T | CA54012144 | EDAR,RANBP2 | c.306G>A (p.Leu102=) c.357G>A (p.Leu119=) c.450G>A (p.Leu150=) c.8370+156202C>T (n.8370+156202C>T) | dbSNP |
| 2 | g.108929249A>C | CA348115645 | EDAR,RANBP2 | c.305T>G (p.Leu102Arg) c.356T>G (p.Leu119Arg) c.449T>G (p.Leu150Arg) c.8370+156203A>C (n.8370+156203A>C) | |
| 2 | g.108929249A>G | CA348115646 | EDAR,RANBP2 | c.305T>C (p.Leu102Pro) c.356T>C (p.Leu119Pro) c.449T>C (p.Leu150Pro) c.8370+156203A>G (n.8370+156203A>G) | |
| 2 | g.108929249A>T | CA348115647 | EDAR,RANBP2 | c.305T>A (p.Leu102Gln) c.356T>A (p.Leu119Gln) c.449T>A (p.Leu150Gln) c.8370+156203A>T (n.8370+156203A>T) | |
| 2 | g.108929250G>A | CA428086826 | EDAR,RANBP2 | c.304C>T (p.Leu102=) c.355C>T (p.Leu119=) c.448C>T (p.Leu150=) c.8370+156204G>A (n.8370+156204G>A) | |
| 2 | g.108929250G>C | CA348115648 | EDAR,RANBP2 | c.304C>G (p.Leu102Val) c.355C>G (p.Leu119Val) c.448C>G (p.Leu150Val) c.8370+156204G>C (n.8370+156204G>C) | |
| 2 | g.108929250G>T | CA348115649 | EDAR,RANBP2 | c.304C>A (p.Leu102Met) c.355C>A (p.Leu119Met) c.448C>A (p.Leu150Met) c.8370+156204G>T (n.8370+156204G>T) | |
| 2 | g.108929251C>A | CA428086828 | EDAR,RANBP2 | c.303G>T (p.Val101=) c.354G>T (p.Val118=) c.447G>T (p.Val149=) c.8370+156205C>A (n.8370+156205C>A) | |
| 2 | g.108929251C>G | CA428086829 | EDAR,RANBP2 | c.303G>C (p.Val101=) c.354G>C (p.Val118=) c.447G>C (p.Val149=) c.8370+156205C>G (n.8370+156205C>G) | |
| 2 | g.108929251C>T | CA428086827 | EDAR,RANBP2 | c.303G>A (p.Val101=) c.354G>A (p.Val118=) c.447G>A (p.Val149=) c.8370+156205C>T (n.8370+156205C>T) | |
| 2 | g.108929252A>C | CA348115652 | EDAR,RANBP2 | c.302T>G (p.Val101Gly) c.353T>G (p.Val118Gly) c.446T>G (p.Val149Gly) c.8370+156206A>C (n.8370+156206A>C) | |
| 2 | g.108929252A>G | CA348115650 | EDAR,RANBP2 | c.302T>C (p.Val101Ala) c.353T>C (p.Val118Ala) c.446T>C (p.Val149Ala) c.8370+156206A>G (n.8370+156206A>G) | |
| 2 | g.108929252A>T | CA348115651 | EDAR,RANBP2 | c.302T>A (p.Val101Glu) c.353T>A (p.Val118Glu) c.446T>A (p.Val149Glu) c.8370+156206A>T (n.8370+156206A>T) | |
| 2 | g.108929253C>A | CA348115653 | EDAR,RANBP2 | c.301G>T (p.Val101Leu) c.352G>T (p.Val118Leu) c.445G>T (p.Val149Leu) c.8370+156207C>A (n.8370+156207C>A) | |
| 2 | g.108929253C= | CA1278368535 | EDAR,RANBP2 | c.301G= (p.Val101=) c.352G= (p.Val118=) c.445G= (p.Val149=) c.8370+156207C= (n.8370+156207C=) | |
| 2 | g.108929253C>G | CA348115654 | EDAR,RANBP2 | c.301G>C (p.Val101Leu) c.352G>C (p.Val118Leu) c.445G>C (p.Val149Leu) c.8370+156207C>G (n.8370+156207C>G) | |
| 2 | g.108929253C>T | CA1825130 | EDAR,RANBP2 | c.301G>A (p.Val101Met) c.352G>A (p.Val118Met) c.445G>A (p.Val149Met) c.8370+156207C>T (n.8370+156207C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.108929254G>A | CA1825131 | EDAR,RANBP2 | c.300C>T (p.Thr100=) c.351C>T (p.Thr117=) c.444C>T (p.Thr148=) c.8370+156208G>A (n.8370+156208G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929254G>C | CA428086830 | EDAR,RANBP2 | c.300C>G (p.Thr100=) c.351C>G (p.Thr117=) c.444C>G (p.Thr148=) c.8370+156208G>C (n.8370+156208G>C) | gnomAD v4 |
| 2 | g.108929254G= | CA1278368536 | EDAR,RANBP2 | c.300C= (p.Thr100=) c.351C= (p.Thr117=) c.444C= (p.Thr148=) c.8370+156208G= (n.8370+156208G=) | |
| 2 | g.108929254G>T | CA428086831 | EDAR,RANBP2 | c.300C>A (p.Thr100=) c.351C>A (p.Thr117=) c.444C>A (p.Thr148=) c.8370+156208G>T (n.8370+156208G>T) | |
| 2 | g.108929255G>A | CA1825132 | EDAR,RANBP2 | c.299C>T (p.Thr100Ile) c.350C>T (p.Thr117Ile) c.443C>T (p.Thr148Ile) c.8370+156209G>A (n.8370+156209G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108929255G>C | CA348115655 | EDAR,RANBP2 | c.299C>G (p.Thr100Ser) c.350C>G (p.Thr117Ser) c.443C>G (p.Thr148Ser) c.8370+156209G>C (n.8370+156209G>C) | |
| 2 | g.108929255G= | CA1278368537 | EDAR,RANBP2 | c.299C= (p.Thr100=) c.350C= (p.Thr117=) c.443C= (p.Thr148=) c.8370+156209G= (n.8370+156209G=) | |
| 2 | g.108929255G>T | CA348115656 | EDAR,RANBP2 | c.299C>A (p.Thr100Asn) c.350C>A (p.Thr117Asn) c.443C>A (p.Thr148Asn) c.8370+156209G>T (n.8370+156209G>T) | |
| 2 | g.108929256T>A | CA348115657 | EDAR,RANBP2 | c.298A>T (p.Thr100Ser) c.349A>T (p.Thr117Ser) c.442A>T (p.Thr148Ser) c.8370+156210T>A (n.8370+156210T>A) |