| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755801G>A | CA500019766 | JUP | c.2181C>T (p.Asp727=) c.2232C>T (p.Asp744=) | |
| 17 | g.41755801G>C | CA399490393 | JUP | c.2181C>G (p.Asp727Glu) c.2232C>G (p.Asp744Glu) | |
| 17 | g.41755801G>T | CA399490395 | JUP | c.2181C>A (p.Asp727Glu) c.2232C>A (p.Asp744Glu) | |
| 17 | g.41755802T>A | CA399490397 | JUP | c.2180A>T (p.Asp727Val) c.2231A>T (p.Asp744Val) | |
| 17 | g.41755802T>C | CA399490399 | JUP | c.2180A>G (p.Asp727Gly) c.2231A>G (p.Asp744Gly) | |
| 17 | g.41755802T>G | CA399490400 | JUP | c.2180A>C (p.Asp727Ala) c.2231A>C (p.Asp744Ala) | |
| 17 | g.41755803C>A | CA399490402 | JUP | c.2179G>T (p.Asp727Tyr) c.2230G>T (p.Asp744Tyr) | |
| 17 | g.41755803C= | CA2260169449 | JUP | c.2179G= (p.Asp727=) c.2230G= (p.Asp744=) | |
| 17 | g.41755803C>G | CA399490404 | JUP | c.2179G>C (p.Asp727His) c.2230G>C (p.Asp744His) | |
| 17 | g.41755803C>T | CA399490403 | JUP | c.2179G>A (p.Asp727Asn) c.2230G>A (p.Asp744Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755804G>A | CA137188 | JUP | c.2178C>T (p.Ile726=) c.2229C>T (p.Ile743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755804G>C | CA399490405 | JUP | c.2178C>G (p.Ile726Met) c.2229C>G (p.Ile743Met) | dbSNP |
| 17 | g.41755804G= | CA2260169450 | JUP | c.2178C= (p.Ile726=) c.2229C= (p.Ile743=) | |
| 17 | g.41755804G>T | CA500019781 | JUP | c.2178C>A (p.Ile726=) c.2229C>A (p.Ile743=) | |
| 17 | g.41755805A>C | CA399490406 | JUP | c.2177T>G (p.Ile726Ser) c.2228T>G (p.Ile743Ser) | |
| 17 | g.41755805A>G | CA399490407 | JUP | c.2177T>C (p.Ile726Thr) c.2228T>C (p.Ile743Thr) | gnomAD v4 |
| 17 | g.41755805A>T | CA399490409 | JUP | c.2177T>A (p.Ile726Asn) c.2228T>A (p.Ile743Asn) | |
| 17 | g.41755806T>A | CA399490411 | JUP | c.2176A>T (p.Ile726Phe) c.2227A>T (p.Ile743Phe) | |
| 17 | g.41755806T>C | CA399490412 | JUP | c.2176A>G (p.Ile726Val) c.2227A>G (p.Ile743Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755806T>G | CA399490414 | JUP | c.2176A>C (p.Ile726Leu) c.2227A>C (p.Ile743Leu) | |
| 17 | g.41755806T= | CA2260169451 | JUP | c.2176A= (p.Ile726=) c.2227A= (p.Ile743=) | |
| 17 | g.41755807G>A | CA500019793 | JUP | c.2175C>T (p.Pro725=) c.2226C>T (p.Pro742=) | |
| 17 | g.41755807G>C | CA500019795 | JUP | c.2175C>G (p.Pro725=) c.2226C>G (p.Pro742=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755807G= | CA2260169452 | JUP | c.2175C= (p.Pro725=) c.2226C= (p.Pro742=) | |
| 17 | g.41755807G>T | CA500019798 | JUP | c.2175C>A (p.Pro725=) c.2226C>A (p.Pro742=) | |
| 17 | g.41755810del | CA500019800 | JUP | c.2175del (p.Ile726SerfsTer?) c.2226del (p.Ile743SerfsTer?) | COSMIC |
| 17 | g.41755808G>A | CA399490416 | JUP | c.2174C>T (p.Pro725Leu) c.2225C>T (p.Pro742Leu) | gnomAD v4 |
| 17 | g.41755808G>C | CA399490418 | JUP | c.2174C>G (p.Pro725Arg) c.2225C>G (p.Pro742Arg) | |
| 17 | g.41755808G>T | CA399490419 | JUP | c.2174C>A (p.Pro725His) c.2225C>A (p.Pro742His) | |
| 17 | g.41755809G>A | CA399490423 | JUP | c.2173C>T (p.Pro725Ser) c.2224C>T (p.Pro742Ser) | gnomAD v4 |
| 17 | g.41755809G>C | CA399490422 | JUP | c.2173C>G (p.Pro725Ala) c.2224C>G (p.Pro742Ala) | |
| 17 | g.41755809G>T | CA399490421 | JUP | c.2173C>A (p.Pro725Thr) c.2224C>A (p.Pro742Thr) | |
| 17 | g.41755809_41755815delinsGGTAGTC | CA2260169453 | JUP | c.2167_2173delinsGACTACC (p.Asp723=) c.2218_2224delinsGACTACC (p.Asp740=) | |
| 17 | g.41755810G>A | CA500019818 | JUP | c.2172C>T (p.Tyr724=) c.2223C>T (p.Tyr741=) | |
| 17 | g.41755810G>C | CA399490424 | JUP | c.2172C>G (p.Tyr724Ter) c.2223C>G (p.Tyr741Ter) | dbSNP |
| 17 | g.41755810G= | CA2260169454 | JUP | c.2172C= (p.Tyr724=) c.2223C= (p.Tyr741=) | |
| 17 | g.41755810G>T | CA399490427 | JUP | c.2172C>A (p.Tyr724Ter) c.2223C>A (p.Tyr741Ter) | |
| 17 | g.41755810_41755815del | CA8564993 | JUP | c.2167_2172del (p.Asp723_Tyr724del) c.2218_2223del (p.Asp740_Tyr741del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755811T>A | CA399490429 | JUP | c.2171A>T (p.Tyr724Phe) c.2222A>T (p.Tyr741Phe) | |
| 17 | g.41755811T>C | CA399490431 | JUP | c.2171A>G (p.Tyr724Cys) c.2222A>G (p.Tyr741Cys) | |
| 17 | g.41755811T>G | CA399490432 | JUP | c.2171A>C (p.Tyr724Ser) c.2222A>C (p.Tyr741Ser) | dbSNP |
| 17 | g.41755811T= | CA2260169455 | JUP | c.2171A= (p.Tyr724=) c.2222A= (p.Tyr741=) | |
| 17 | g.41755811_41755816del | CA399490430 | JUP | c.2166_2171del (p.Asp723_Tyr724del) c.2217_2222del (p.Asp740_Tyr741del) | |
| 17 | g.41755812A>C | CA399490434 | JUP | c.2170T>G (p.Tyr724Asp) c.2221T>G (p.Tyr741Asp) | |
| 17 | g.41755812A>G | CA399490433 | JUP | c.2170T>C (p.Tyr724His) c.2221T>C (p.Tyr741His) | |
| 17 | g.41755812A>T | CA399490435 | JUP | c.2170T>A (p.Tyr724Asn) c.2221T>A (p.Tyr741Asn) | |
| 17 | g.41755813G>A | CA500019834 | JUP | c.2169C>T (p.Asp723=) c.2220C>T (p.Asp740=) | |
| 17 | g.41755813G>C | CA399490437 | JUP | c.2169C>G (p.Asp723Glu) c.2220C>G (p.Asp740Glu) | |
| 17 | g.41755813G>T | CA399490439 | JUP | c.2169C>A (p.Asp723Glu) c.2220C>A (p.Asp740Glu) | |
| 17 | g.41755814T>A | CA399490441 | JUP | c.2168A>T (p.Asp723Val) c.2219A>T (p.Asp740Val) |