| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 17 | g.41755814T>C | CA399490445 | JUP | c.2168A>G (p.Asp723Gly) c.2219A>G (p.Asp740Gly) | |
| 17 | g.41755814T>G | CA399490443 | JUP | c.2168A>C (p.Asp723Ala) c.2219A>C (p.Asp740Ala) | |
| 17 | g.41755815C>A | CA399490447 | JUP | c.2167G>T (p.Asp723Tyr) c.2218G>T (p.Asp740Tyr) | |
| 17 | g.41755815C>G | CA399490449 | JUP | c.2167G>C (p.Asp723His) c.2218G>C (p.Asp740His) | |
| 17 | g.41755815C>T | CA399490451 | JUP | c.2167G>A (p.Asp723Asn) c.2218G>A (p.Asp740Asn) | |
| 17 | g.41755816T>A | CA500019856 | JUP | c.2166A>T (p.Gly722=) c.2217A>T (p.Gly739=) | |
| 17 | g.41755816T>C | CA500019859 | JUP | c.2166A>G (p.Gly722=) c.2217A>G (p.Gly739=) | |
| 17 | g.41755816T>G | CA500019862 | JUP | c.2166A>C (p.Gly722=) c.2217A>C (p.Gly739=) | |
| 17 | g.41755817C>A | CA399490453 | JUP | c.2165G>T (p.Gly722Val) c.2216G>T (p.Gly739Val) | dbSNP gnomAD v4 |
| 17 | g.41755817C= | CA2260169456 | JUP | c.2165G= (p.Gly722=) c.2216G= (p.Gly739=) | |
| 17 | g.41755817C>G | CA399490454 | JUP | c.2165G>C (p.Gly722Ala) c.2216G>C (p.Gly739Ala) | dbSNP |
| 17 | g.41755817C>T | CA399490460 | JUP | c.2165G>A (p.Gly722Glu) c.2216G>A (p.Gly739Glu) | |
| 17 | g.41755818C>A | CA399490461 | JUP | c.2164G>T (p.Gly722Ter) c.2215G>T (p.Gly739Ter) | |
| 17 | g.41755818C>G | CA399490464 | JUP | c.2164G>C (p.Gly722Arg) c.2215G>C (p.Gly739Arg) | gnomAD v4 |
| 17 | g.41755818C>T | CA399490468 | JUP | c.2164G>A (p.Gly722Arg) c.2215G>A (p.Gly739Arg) | |
| 17 | g.41755819A= | CA2260169457 | JUP | c.2163T= (p.Asp721=) c.2214T= (p.Asp738=) | |
| 17 | g.41755819A>C | CA399490471 | JUP | c.2163T>G (p.Asp721Glu) c.2214T>G (p.Asp738Glu) | |
| 17 | g.41755819A>G | CA500019879 | JUP | c.2163T>C (p.Asp721=) c.2214T>C (p.Asp738=) | dbSNP gnomAD v4 |
| 17 | g.41755819A>T | CA399490474 | JUP | c.2163T>A (p.Asp721Glu) c.2214T>A (p.Asp738Glu) | |
| 17 | g.41755820T>A | CA399490480 | JUP | c.2162A>T (p.Asp721Val) c.2213A>T (p.Asp738Val) | |
| 17 | g.41755820T>C | CA399490476 | JUP | c.2162A>G (p.Asp721Gly) c.2213A>G (p.Asp738Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755820T>G | CA399490478 | JUP | c.2162A>C (p.Asp721Ala) c.2213A>C (p.Asp738Ala) | |
| 17 | g.41755820T= | CA2260169458 | JUP | c.2162A= (p.Asp721=) c.2213A= (p.Asp738=) | |
| 17 | g.41755827_41755832dup | CA8564994 | JUP | c.2157_2162dup (p.Asp721_Gly722insMetAsp) c.2208_2213dup (p.Asp738_Gly739insMetAsp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755821C>A | CA399490487 | JUP | c.2161G>T (p.Asp721Tyr) c.2212G>T (p.Asp738Tyr) | gnomAD v4 |