| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755830_41755841del | CA2637858000 | JUP | c.2145_2156del (p.Glu715_Met718del) c.2196_2207del (p.Glu732_Met735del) | gnomAD v4 |
| 17 | g.41755835A>C | CA399490567 | JUP | c.2147T>G (p.Met716Arg) c.2198T>G (p.Met733Arg) | |
| 17 | g.41755835A>G | CA399490569 | JUP | c.2147T>C (p.Met716Thr) c.2198T>C (p.Met733Thr) | |
| 17 | g.41755835A>T | CA399490571 | JUP | c.2147T>A (p.Met716Lys) c.2198T>A (p.Met733Lys) | |
| 17 | g.41755836T>A | CA399490574 | JUP | c.2146A>T (p.Met716Leu) c.2197A>T (p.Met733Leu) | gnomAD v4 |
| 17 | g.41755836T>C | CA399490578 | JUP | c.2146A>G (p.Met716Val) c.2197A>G (p.Met733Val) | ClinVar dbSNP |
| 17 | g.41755836T>G | CA399490576 | JUP | c.2146A>C (p.Met716Leu) c.2197A>C (p.Met733Leu) | |
| 17 | g.41755836T= | CA2260169466 | JUP | c.2146A= (p.Met716=) c.2197A= (p.Met733=) | |
| 17 | g.41755837C>A | CA399490580 | JUP | c.2145G>T (p.Glu715Asp) c.2196G>T (p.Glu732Asp) | |
| 17 | g.41755837C= | CA2260169467 | JUP | c.2145G= (p.Glu715=) c.2196G= (p.Glu732=) | |
| 17 | g.41755837C>G | CA8564997 | JUP | c.2145G>C (p.Glu715Asp) c.2196G>C (p.Glu732Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755837C>T | CA500019981 | JUP | c.2145G>A (p.Glu715=) c.2196G>A (p.Glu732=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755838T>A | CA399490583 | JUP | c.2144A>T (p.Glu715Val) c.2195A>T (p.Glu732Val) | |
| 17 | g.41755838T>C | CA399490585 | JUP | c.2144A>G (p.Glu715Gly) c.2195A>G (p.Glu732Gly) | |
| 17 | g.41755838T>G | CA399490591 | JUP | c.2144A>C (p.Glu715Ala) c.2195A>C (p.Glu732Ala) | |
| 17 | g.41755839C>A | CA399490593 | JUP | c.2143G>T (p.Glu715Ter) c.2194G>T (p.Glu732Ter) | |
| 17 | g.41755839C>G | CA399490594 | JUP | c.2143G>C (p.Glu715Gln) c.2194G>C (p.Glu732Gln) | |
| 17 | g.41755839C>T | CA399490597 | JUP | c.2143G>A (p.Glu715Lys) c.2194G>A (p.Glu732Lys) | |
| 17 | g.41755840C>A | CA500019993 | JUP | c.2142G>T (p.Leu714=) c.2193G>T (p.Leu731=) | |
| 17 | g.41755840C>G | CA500019999 | JUP | c.2142G>C (p.Leu714=) c.2193G>C (p.Leu731=) | |
| 17 | g.41755840C>T | CA500019997 | JUP | c.2142G>A (p.Leu714=) c.2193G>A (p.Leu731=) | |
| 17 | g.41755841A>C | CA399490600 | JUP | c.2141T>G (p.Leu714Arg) c.2192T>G (p.Leu731Arg) | |
| 17 | g.41755841A>G | CA399490603 | JUP | c.2141T>C (p.Leu714Pro) c.2192T>C (p.Leu731Pro) | ClinVar dbSNP |
| 17 | g.41755841A>T | CA399490602 | JUP | c.2141T>A (p.Leu714Gln) c.2192T>A (p.Leu731Gln) | |
| 17 | g.41755842G>A | CA500020010 | JUP | c.2140C>T (p.Leu714=) c.2191C>T (p.Leu731=) | |
| 17 | g.41755842G>C | CA399490606 | JUP | c.2140C>G (p.Leu714Val) c.2191C>G (p.Leu731Val) | |
| 17 | g.41755842G>T | CA399490610 | JUP | c.2140C>A (p.Leu714Met) c.2191C>A (p.Leu731Met) | |
| 17 | g.41755843C>A | CA8564999 | JUP | c.2139G>T (p.Pro713=) c.2190G>T (p.Pro730=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755843C= | CA2260169468 | JUP | c.2139G= (p.Pro713=) c.2190G= (p.Pro730=) | |
| 17 | g.41755843C>G | CA500020024 | JUP | c.2139G>C (p.Pro713=) c.2190G>C (p.Pro730=) | |
| 17 | g.41755843C>T | CA8564998 | JUP | c.2139G>A (p.Pro713=) c.2190G>A (p.Pro730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755843_41755923dup | CA2593969248 | JUP | c.2087-28_2139dup c.2138-28_2190dup | gnomAD v3 gnomAD v4 |
| 17 | g.41755843_41755844insAAGTGGAGATTTCTAGCCATTTGATGCCAACAGTA | CA626025210 | JUP | c.2138_2139insTACTGTTGGCATCAAATGGCTAGAAATCTCCACTT (p.Leu714ThrfsTer?) c.2189_2190insTACTGTTGGCATCAAATGGCTAGAAATCTCCACTT (p.Leu731ThrfsTer?) | gnomAD v2 |
| 17 | g.41755844G>A | CA8565000 | JUP | c.2138C>T (p.Pro713Leu) c.2189C>T (p.Pro730Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755844G>C | CA399490614 | JUP | c.2138C>G (p.Pro713Arg) c.2189C>G (p.Pro730Arg) | |
| 17 | g.41755844G= | CA2260169469 | JUP | c.2138C= (p.Pro713=) c.2189C= (p.Pro730=) | |
| 17 | g.41755844G>T | CA399490612 | JUP | c.2138C>A (p.Pro713Gln) c.2189C>A (p.Pro730Gln) | |
| 17 | g.41755845G>A | CA399490616 | JUP | c.2137C>T (p.Pro713Ser) c.2188C>T (p.Pro730Ser) | dbSNP gnomAD v2 |
| 17 | g.41755845G>C | CA399490619 | JUP | c.2137C>G (p.Pro713Ala) c.2188C>G (p.Pro730Ala) | |
| 17 | g.41755845G= | CA2260169470 | JUP | c.2137C= (p.Pro713=) c.2188C= (p.Pro730=) | |
| 17 | g.41755845G>T | CA399490620 | JUP | c.2137C>A (p.Pro713Thr) c.2188C>A (p.Pro730Thr) | ClinVar dbSNP |
| 17 | g.41755846G>A | CA500020040 | JUP | c.2136C>T (p.Asp712=) c.2187C>T (p.Asp729=) | |
| 17 | g.41755846G>C | CA399490622 | JUP | c.2136C>G (p.Asp712Glu) c.2187C>G (p.Asp729Glu) | |
| 17 | g.41755846G>T | CA399490624 | JUP | c.2136C>A (p.Asp712Glu) c.2187C>A (p.Asp729Glu) | |
| 17 | g.41755847T>A | CA399490627 | JUP | c.2135A>T (p.Asp712Val) c.2186A>T (p.Asp729Val) | |
| 17 | g.41755847T>C | CA399490628 | JUP | c.2135A>G (p.Asp712Gly) c.2186A>G (p.Asp729Gly) | dbSNP |
| 17 | g.41755847T>G | CA399490630 | JUP | c.2135A>C (p.Asp712Ala) c.2186A>C (p.Asp729Ala) | |
| 17 | g.41755847T= | CA2260169471 | JUP | c.2135A= (p.Asp712=) c.2186A= (p.Asp729=) | |
| 17 | g.41755848C>A | CA399490632 | JUP | c.2134G>T (p.Asp712Tyr) c.2185G>T (p.Asp729Tyr) | |
| 17 | g.41755848C>G | CA399490635 | JUP | c.2134G>C (p.Asp712His) c.2185G>C (p.Asp729His) |