| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755843_41755923dup | CA2593969248 | JUP | c.2087-28_2139dup c.2138-28_2190dup | gnomAD v3 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=) | |
| 17 | g.41755853G>T | CA399490658 | JUP | c.2129C>A (p.Pro710His) c.2180C>A (p.Pro727His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755854G>A | CA8565002 | JUP | c.2128C>T (p.Pro710Ser) c.2179C>T (p.Pro727Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755854G>C | CA399490662 | JUP | c.2128C>G (p.Pro710Ala) c.2179C>G (p.Pro727Ala) | |
| 17 | g.41755854G= | CA2260169474 | JUP | c.2128C= (p.Pro710=) c.2179C= (p.Pro727=) | |
| 17 | g.41755854G>T | CA399490664 | JUP | c.2128C>A (p.Pro710Thr) c.2179C>A (p.Pro727Thr) | |
| 17 | g.41755855C>A | CA500020119 | JUP | c.2127G>T (p.Val709=) c.2178G>T (p.Val726=) | |
| 17 | g.41755855C>G | CA500020114 | JUP | c.2127G>C (p.Val709=) c.2178G>C (p.Val726=) | |
| 17 | g.41755855C>T | CA500020116 | JUP | c.2127G>A (p.Val709=) c.2178G>A (p.Val726=) | |
| 17 | g.41755856A>C | CA399490666 | JUP | c.2126T>G (p.Val709Gly) c.2177T>G (p.Val726Gly) | |
| 17 | g.41755856A>G | CA399490667 | JUP | c.2126T>C (p.Val709Ala) c.2177T>C (p.Val726Ala) | gnomAD v4 |
| 17 | g.41755856A>T | CA399490669 | JUP | c.2126T>A (p.Val709Glu) c.2177T>A (p.Val726Glu) | |
| 17 | g.41755857C>A | CA399490673 | JUP | c.2125G>T (p.Val709Leu) c.2176G>T (p.Val726Leu) | |
| 17 | g.41755857C>G | CA399490671 | JUP | c.2125G>C (p.Val709Leu) c.2176G>C (p.Val726Leu) | |
| 17 | g.41755857C>T | CA399490672 | JUP | c.2125G>A (p.Val709Met) c.2176G>A (p.Val726Met) | ClinVar |
| 17 | g.41755858A>C | CA399490674 | JUP | c.2124T>G (p.Asp708Glu) c.2175T>G (p.Asp725Glu) | |
| 17 | g.41755858A>G | CA500020142 | JUP | c.2124T>C (p.Asp708=) c.2175T>C (p.Asp725=) | |
| 17 | g.41755858A>T | CA399490676 | JUP | c.2124T>A (p.Asp708Glu) c.2175T>A (p.Asp725Glu) | |
| 17 | g.41755859T>A | CA399490678 | JUP | c.2123A>T (p.Asp708Val) c.2174A>T (p.Asp725Val) | |
| 17 | g.41755859T>C | CA399490679 | JUP | c.2123A>G (p.Asp708Gly) c.2174A>G (p.Asp725Gly) | |
| 17 | g.41755859T>G | CA399490680 | JUP | c.2123A>C (p.Asp708Ala) c.2174A>C (p.Asp725Ala) | |
| 17 | g.41755860C>A | CA399490682 | JUP | c.2122G>T (p.Asp708Tyr) c.2173G>T (p.Asp725Tyr) | |
| 17 | g.41755860C= | CA2260169475 | JUP | c.2122G= (p.Asp708=) c.2173G= (p.Asp725=) | |
| 17 | g.41755860C>G | CA399490684 | JUP | c.2122G>C (p.Asp708His) c.2173G>C (p.Asp725His) | gnomAD v4 |
| 17 | g.41755860C>T | CA308431 | JUP | c.2122G>A (p.Asp708Asn) c.2173G>A (p.Asp725Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755861G>A | CA500020159 | JUP | c.2121C>T (p.Ser707=) c.2172C>T (p.Ser724=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755861G>C | CA399490686 | JUP | c.2121C>G (p.Ser707Arg) c.2172C>G (p.Ser724Arg) | |
| 17 | g.41755861G= | CA2260169476 | JUP | c.2121C= (p.Ser707=) c.2172C= (p.Ser724=) | |
| 17 | g.41755861G>T | CA399490688 | JUP | c.2121C>A (p.Ser707Arg) c.2172C>A (p.Ser724Arg) | |
| 17 | g.41755862C>A | CA399490693 | JUP | c.2120G>T (p.Ser707Ile) c.2171G>T (p.Ser724Ile) | |
| 17 | g.41755862C>G | CA399490692 | JUP | c.2120G>C (p.Ser707Thr) c.2171G>C (p.Ser724Thr) | gnomAD v4 |
| 17 | g.41755862C>T | CA399490690 | JUP | c.2120G>A (p.Ser707Asn) c.2171G>A (p.Ser724Asn) | |
| 17 | g.41755863T>A | CA399490695 | JUP | c.2119A>T (p.Ser707Cys) c.2170A>T (p.Ser724Cys) | |
| 17 | g.41755863T>C | CA399490701 | JUP | c.2119A>G (p.Ser707Gly) c.2170A>G (p.Ser724Gly) | gnomAD v4 |
| 17 | g.41755863T>G | CA399490697 | JUP | c.2119A>C (p.Ser707Arg) c.2170A>C (p.Ser724Arg) | |
| 17 | g.41755863T= | CA2260169477 | JUP | c.2119A= (p.Ser707=) c.2170A= (p.Ser724=) | |
| 17 | g.41755864G>A | CA500020183 | JUP | c.2118C>T (p.Ser706=) c.2169C>T (p.Ser723=) | COSMIC |
| 17 | g.41755864G>C | CA500020189 | JUP | c.2118C>G (p.Ser706=) c.2169C>G (p.Ser723=) | |
| 17 | g.41755864G>T | CA500020187 | JUP | c.2118C>A (p.Ser706=) c.2169C>A (p.Ser723=) | |
| 17 | g.41755865dup | CA916081884 | JUP | c.2118dup (p.Ser707GlnfsTer6) c.2169dup (p.Ser724GlnfsTer6) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755865G>A | CA399490704 | JUP | c.2117C>T (p.Ser706Phe) c.2168C>T (p.Ser723Phe) | gnomAD v4 |
| 17 | g.41755865G>C | CA399490706 | JUP | c.2117C>G (p.Ser706Cys) c.2168C>G (p.Ser723Cys) | |
| 17 | g.41755865G>T | CA399490708 | JUP | c.2117C>A (p.Ser706Tyr) c.2168C>A (p.Ser723Tyr) | |
| 17 | g.41755866A= | CA2260169478 | JUP | c.2116T= (p.Ser706=) c.2167T= (p.Ser723=) |