| 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.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) | |
| 17 | g.41755848C>T | CA399490637 | JUP | c.2134G>A (p.Asp712Asn) c.2185G>A (p.Asp729Asn) | |
| 17 | g.41755849A>C | CA500020059 | JUP | c.2133T>G (p.Leu711=) c.2184T>G (p.Leu728=) | |
| 17 | g.41755849A>G | CA500020063 | JUP | c.2133T>C (p.Leu711=) c.2184T>C (p.Leu728=) | |
| 17 | g.41755849A>T | CA500020067 | JUP | c.2133T>A (p.Leu711=) c.2184T>A (p.Leu728=) | |
| 17 | g.41755850A= | CA2260169472 | JUP | c.2132T= (p.Leu711=) c.2183T= (p.Leu728=) | |
| 17 | g.41755850A>C | CA399490640 | JUP | c.2132T>G (p.Leu711Arg) c.2183T>G (p.Leu728Arg) | |
| 17 | g.41755850A>G | CA8565001 | JUP | c.2132T>C (p.Leu711Pro) c.2183T>C (p.Leu728Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755850A>T | CA399490642 | JUP | c.2132T>A (p.Leu711His) c.2183T>A (p.Leu728His) | |
| 17 | g.41755851G>A | CA399490647 | JUP | c.2131C>T (p.Leu711Phe) c.2182C>T (p.Leu728Phe) | |
| 17 | g.41755851G>C | CA399490649 | JUP | c.2131C>G (p.Leu711Val) c.2182C>G (p.Leu728Val) | |
| 17 | g.41755851G>T | CA399490651 | JUP | c.2131C>A (p.Leu711Ile) c.2182C>A (p.Leu728Ile) | gnomAD v4 |
| 17 | g.41755852G>A | CA500020087 | JUP | c.2130C>T (p.Pro710=) c.2181C>T (p.Pro727=) | COSMIC |
| 17 | g.41755852G>C | CA500020091 | JUP | c.2130C>G (p.Pro710=) c.2181C>G (p.Pro727=) | |
| 17 | g.41755852G>T | CA500020097 | JUP | c.2130C>A (p.Pro710=) c.2181C>A (p.Pro727=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755853G>A | CA399490653 | JUP | c.2129C>T (p.Pro710Leu) c.2180C>T (p.Pro727Leu) | |
| 17 | g.41755853G>C | CA399490656 | JUP | c.2129C>G (p.Pro710Arg) c.2180C>G (p.Pro727Arg) | |
| 17 | g.41755853G= | CA2260169473 | JUP | c.2129C= (p.Pro710=) c.2180C= (p.Pro727=) |