UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755809_41755815delinsGGTAGTC | CA2260169453 | JUP | c.2167_2173delinsGACTACC (p.Asp723=) c.2218_2224delinsGACTACC (p.Asp740=) | |
| 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 |
| 17 | g.41755821C>G | CA399490489 | JUP | c.2161G>C (p.Asp721His) c.2212G>C (p.Asp738His) | |
| 17 | g.41755821C>T | CA399490491 | JUP | c.2161G>A (p.Asp721Asn) c.2212G>A (p.Asp738Asn) | gnomAD v4 |
| 17 | g.41755822C>A | CA399490494 | JUP | c.2160G>T (p.Met720Ile) c.2211G>T (p.Met737Ile) | |
| 17 | g.41755822C>G | CA399490497 | JUP | c.2160G>C (p.Met720Ile) c.2211G>C (p.Met737Ile) | |
| 17 | g.41755822C>T | CA399490500 | JUP | c.2160G>A (p.Met720Ile) c.2211G>A (p.Met737Ile) | |
| 17 | g.41755823A>C | CA399490501 | JUP | c.2159T>G (p.Met720Arg) c.2210T>G (p.Met737Arg) | |
| 17 | g.41755823A>G | CA399490504 | JUP | c.2159T>C (p.Met720Thr) c.2210T>C (p.Met737Thr) | |
| 17 | g.41755823A>T | CA399490505 | JUP | c.2159T>A (p.Met720Lys) c.2210T>A (p.Met737Lys) | |
| 17 | g.41755824T>A | CA399490506 | JUP | c.2158A>T (p.Met720Leu) c.2209A>T (p.Met737Leu) | |
| 17 | g.41755824T>C | CA8564995 | JUP | c.2158A>G (p.Met720Val) c.2209A>G (p.Met737Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.41755824T>G | CA399490508 | JUP | c.2158A>C (p.Met720Leu) c.2209A>C (p.Met737Leu) | |
| 17 | g.41755824T= | CA2260169459 | JUP | c.2158A= (p.Met720=) c.2209A= (p.Met737=) | |
| 17 | g.41755825G>A | CA500019918 | JUP | c.2157C>T (p.Asp719=) c.2208C>T (p.Asp736=) | |
| 17 | g.41755825G>C | CA399490511 | JUP | c.2157C>G (p.Asp719Glu) c.2208C>G (p.Asp736Glu) | |
| 17 | g.41755825G>T | CA399490510 | JUP | c.2157C>A (p.Asp719Glu) c.2208C>A (p.Asp736Glu) | |
| 17 | g.41755826T>A | CA399490512 | JUP | c.2156A>T (p.Asp719Val) c.2207A>T (p.Asp736Val) | gnomAD v4 |
| 17 | g.41755826T>C | CA399490515 | JUP | c.2156A>G (p.Asp719Gly) c.2207A>G (p.Asp736Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755826T>G | CA399490513 | JUP | c.2156A>C (p.Asp719Ala) c.2207A>C (p.Asp736Ala) | |
| 17 | g.41755826T= | CA2260169460 | JUP | c.2156A= (p.Asp719=) c.2207A= (p.Asp736=) | |
| 17 | g.41755830_41755841del | CA2637858000 | JUP | c.2145_2156del (p.Glu715_Met718del) c.2196_2207del (p.Glu732_Met735del) | gnomAD v4 |
| 17 | g.41755827C>A | CA399490517 | JUP | c.2155G>T (p.Asp719Tyr) c.2206G>T (p.Asp736Tyr) | |
| 17 | g.41755827C>G | CA399490520 | JUP | c.2155G>C (p.Asp719His) c.2206G>C (p.Asp736His) | |
| 17 | g.41755827C>T | CA399490521 | JUP | c.2155G>A (p.Asp719Asn) c.2206G>A (p.Asp736Asn) | |
| 17 | g.41755828C>A | CA399490524 | JUP | c.2154G>T (p.Met718Ile) c.2205G>T (p.Met735Ile) | |
| 17 | g.41755828C>G | CA399490526 | JUP | c.2154G>C (p.Met718Ile) c.2205G>C (p.Met735Ile) | |
| 17 | g.41755828C>T | CA399490530 | JUP | c.2154G>A (p.Met718Ile) c.2205G>A (p.Met735Ile) | ClinVar gnomAD v4 |
| 17 | g.41755829A= | CA2260169461 | JUP | c.2153T= (p.Met718=) c.2204T= (p.Met735=) | |
| 17 | g.41755829A>C | CA399490532 | JUP | c.2153T>G (p.Met718Arg) c.2204T>G (p.Met735Arg) | |
| 17 | g.41755829A>G | CA8564996 | JUP | c.2153T>C (p.Met718Thr) c.2204T>C (p.Met735Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755829A>T | CA399490533 | JUP | c.2153T>A (p.Met718Lys) c.2204T>A (p.Met735Lys) | |
| 17 | g.41755830T>A | CA399490537 | JUP | c.2152A>T (p.Met718Leu) c.2203A>T (p.Met735Leu) | |
| 17 | g.41755830T>C | CA399490538 | JUP | c.2152A>G (p.Met718Val) c.2203A>G (p.Met735Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755830T>G | CA399490539 | JUP | c.2152A>C (p.Met718Leu) c.2203A>C (p.Met735Leu) | |
| 17 | g.41755830T= | CA2260169462 | JUP | c.2152A= (p.Met718=) c.2203A= (p.Met735=) | |
| 17 | g.41755831G>A | CA500019947 | JUP | c.2151C>T (p.His717=) c.2202C>T (p.His734=) | ClinVar COSMIC |
| 17 | g.41755831G>C | CA399490542 | JUP | c.2151C>G (p.His717Gln) c.2202C>G (p.His734Gln) | gnomAD v4 |
| 17 | g.41755831G>T | CA399490544 | JUP | c.2151C>A (p.His717Gln) c.2202C>A (p.His734Gln) | |
| 17 | g.41755832T>A | CA399490546 | JUP | c.2150A>T (p.His717Leu) c.2201A>T (p.His734Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755832T>C | CA399490548 | JUP | c.2150A>G (p.His717Arg) c.2201A>G (p.His734Arg) | dbSNP gnomAD v4 |
| 17 | g.41755832T>G | CA399490550 | JUP | c.2150A>C (p.His717Pro) c.2201A>C (p.His734Pro) | |
| 17 | g.41755832T= | CA2260169463 | JUP | c.2150A= (p.His717=) c.2201A= (p.His734=) | |
| 17 | g.41755833G>A | CA399490552 | JUP | c.2149C>T (p.His717Tyr) c.2200C>T (p.His734Tyr) | |
| 17 | g.41755833G>C | CA399490553 | JUP | c.2149C>G (p.His717Asp) c.2200C>G (p.His734Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755833G= | CA2260169464 | JUP | c.2149C= (p.His717=) c.2200C= (p.His734=) | |
| 17 | g.41755833G>T | CA399490556 | JUP | c.2149C>A (p.His717Asn) c.2200C>A (p.His734Asn) | |
| 17 | g.41755834C>A | CA399490561 | JUP | c.2148G>T (p.Met716Ile) c.2199G>T (p.Met733Ile) | |
| 17 | g.41755834C= | CA2260169465 | JUP | c.2148G= (p.Met716=) c.2199G= (p.Met733=) | |
| 17 | g.41755834C>G | CA399490562 | JUP | c.2148G>C (p.Met716Ile) c.2199G>C (p.Met733Ile) | |
| 17 | g.41755834C>T | CA399490564 | JUP | c.2148G>A (p.Met716Ile) c.2199G>A (p.Met733Ile) | dbSNP gnomAD v2 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) | |
| 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=) | |
| 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=) | |
| 17 | g.41755866A>C | CA399490710 | JUP | c.2116T>G (p.Ser706Ala) c.2167T>G (p.Ser723Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755866A>G | CA399490712 | JUP | c.2116T>C (p.Ser706Pro) c.2167T>C (p.Ser723Pro) | COSMIC |
| 17 | g.41755866A>T | CA399490713 | JUP | c.2116T>A (p.Ser706Thr) c.2167T>A (p.Ser723Thr) | |
| 17 | g.41755867G>A | CA500020201 | JUP | c.2115C>T (p.Tyr705=) c.2166C>T (p.Tyr722=) | gnomAD v4 |
| 17 | g.41755867G>C | CA399490716 | JUP | c.2115C>G (p.Tyr705Ter) c.2166C>G (p.Tyr722Ter) | |
| 17 | g.41755867G>T | CA399490715 | JUP | c.2115C>A (p.Tyr705Ter) c.2166C>A (p.Tyr722Ter) | |
| 17 | g.41755868T>A | CA399490718 | JUP | c.2114A>T (p.Tyr705Phe) c.2165A>T (p.Tyr722Phe) | ClinVar |
| 17 | g.41755868T>C | CA399490719 | JUP | c.2114A>G (p.Tyr705Cys) c.2165A>G (p.Tyr722Cys) | |
| 17 | g.41755868T>G | CA399490721 | JUP | c.2114A>C (p.Tyr705Ser) c.2165A>C (p.Tyr722Ser) | gnomAD v4 |
| 17 | g.41755869A>C | CA399490723 | JUP | c.2113T>G (p.Tyr705Asp) c.2164T>G (p.Tyr722Asp) | |
| 17 | g.41755869A>G | CA399490725 | JUP | c.2113T>C (p.Tyr705His) c.2164T>C (p.Tyr722His) | |
| 17 | g.41755869A>T | CA399490726 | JUP | c.2113T>A (p.Tyr705Asn) c.2164T>A (p.Tyr722Asn) | |
| 17 | g.41755870C>A | CA399490730 | JUP | c.2112G>T (p.Met704Ile) c.2163G>T (p.Met721Ile) | |
| 17 | g.41755870C= | CA2260169479 | JUP | c.2112G= (p.Met704=) c.2163G= (p.Met721=) | |
| 17 | g.41755870C>G | CA399490728 | JUP | c.2112G>C (p.Met704Ile) c.2163G>C (p.Met721Ile) | |
| 17 | g.41755870C>T | CA399490729 | JUP | c.2112G>A (p.Met704Ile) c.2163G>A (p.Met721Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755871A>C | CA399490732 | JUP | c.2111T>G (p.Met704Arg) c.2162T>G (p.Met721Arg) | |
| 17 | g.41755871A>G | CA399490733 | JUP | c.2111T>C (p.Met704Thr) c.2162T>C (p.Met721Thr) | gnomAD v4 |
| 17 | g.41755871A>T | CA399490734 | JUP | c.2111T>A (p.Met704Lys) c.2162T>A (p.Met721Lys) | |
| 17 | g.41755872T>A | CA399490735 | JUP | c.2110A>T (p.Met704Leu) c.2161A>T (p.Met721Leu) | |
| 17 | g.41755872T>C | CA399490736 | JUP | c.2110A>G (p.Met704Val) c.2161A>G (p.Met721Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755872T>G | CA399490737 | JUP | c.2110A>C (p.Met704Leu) c.2161A>C (p.Met721Leu) | |
| 17 | g.41755872T= | CA2260169480 | JUP | c.2110A= (p.Met704=) c.2161A= (p.Met721=) | |
| 17 | g.41755873G>A | CA500020219 | JUP | c.2109C>T (p.Pro703=) c.2160C>T (p.Pro720=) | |
| 17 | g.41755873G>C | CA500020221 | JUP | c.2109C>G (p.Pro703=) c.2160C>G (p.Pro720=) | |
| 17 | g.41755873G>T | CA500020224 | JUP | c.2109C>A (p.Pro703=) c.2160C>A (p.Pro720=) | |
| 17 | g.41755876del | CA2637858001 | JUP | c.2109del (p.Met704CysfsTer?) c.2160del (p.Met721CysfsTer?) | gnomAD v4 |
| 17 | g.41755874G>A | CA399490738 | JUP | c.2108C>T (p.Pro703Leu) c.2159C>T (p.Pro720Leu) | |
| 17 | g.41755874G>C | CA290694754 | JUP | c.2108C>G (p.Pro703Arg) c.2159C>G (p.Pro720Arg) | ClinVar dbSNP |
| 17 | g.41755874G= | CA2260169481 | JUP | c.2108C= (p.Pro703=) c.2159C= (p.Pro720=) | |
| 17 | g.41755874G>T | CA399490739 | JUP | c.2108C>A (p.Pro703His) c.2159C>A (p.Pro720His) | |
| 17 | g.41755875G>A | CA399490741 | JUP | c.2107C>T (p.Pro703Ser) c.2158C>T (p.Pro720Ser) | |
| 17 | g.41755875G>C | CA399490743 | JUP | c.2107C>G (p.Pro703Ala) c.2158C>G (p.Pro720Ala) | |
| 17 | g.41755875G>T | CA399490744 | JUP | c.2107C>A (p.Pro703Thr) c.2158C>A (p.Pro720Thr) | gnomAD v4 |
| 17 | g.41755876G>A | CA500020234 | JUP | c.2106C>T (p.Arg702=) c.2157C>T (p.Arg719=) | gnomAD v4 |
| 17 | g.41755876G>C | CA500020238 | JUP | c.2106C>G (p.Arg702=) c.2157C>G (p.Arg719=) | |
| 17 | g.41755876G>T | CA500020237 | JUP | c.2106C>A (p.Arg702=) c.2157C>A (p.Arg719=) | |
| 17 | g.41755877C>A | CA399490746 | JUP | c.2105G>T (p.Arg702Leu) c.2156G>T (p.Arg719Leu) | gnomAD v4 |
| 17 | g.41755877C= | CA2260169482 | JUP | c.2105G= (p.Arg702=) c.2156G= (p.Arg719=) | |
| 17 | g.41755877C>G | CA399490748 | JUP | c.2105G>C (p.Arg702Pro) c.2156G>C (p.Arg719Pro) | |
| 17 | g.41755877C>T | CA183151 | JUP | c.2105G>A (p.Arg702His) c.2156G>A (p.Arg719His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755878G>A | CA8565003 | JUP | c.2104C>T (p.Arg702Cys) c.2155C>T (p.Arg719Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41755878G>C | CA399490750 | JUP | c.2104C>G (p.Arg702Gly) c.2155C>G (p.Arg719Gly) | |
| 17 | g.41755878G= | CA2260169483 | JUP | c.2104C= (p.Arg702=) c.2155C= (p.Arg719=) | |
| 17 | g.41755878G>T | CA399490752 | JUP | c.2104C>A (p.Arg702Ser) c.2155C>A (p.Arg719Ser) | |
| 17 | g.41755879G>A | CA500020245 | JUP | c.2103C>T (p.Tyr701=) c.2154C>T (p.Tyr718=) | gnomAD v4 |
| 17 | g.41755879G>C | CA399490754 | JUP | c.2103C>G (p.Tyr701Ter) c.2154C>G (p.Tyr718Ter) | |
| 17 | g.41755879G>T | CA399490755 | JUP | c.2103C>A (p.Tyr701Ter) c.2154C>A (p.Tyr718Ter) | |
| 17 | g.41755880T>A | CA399490758 | JUP | c.2102A>T (p.Tyr701Phe) c.2153A>T (p.Tyr718Phe) | |
| 17 | g.41755880T>C | CA8565004 | JUP | c.2102A>G (p.Tyr701Cys) c.2153A>G (p.Tyr718Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755880T>G | CA399490760 | JUP | c.2102A>C (p.Tyr701Ser) c.2153A>C (p.Tyr718Ser) | |
| 17 | g.41755880T= | CA2260169484 | JUP | c.2102A= (p.Tyr701=) c.2153A= (p.Tyr718=) | |
| 17 | g.41755881A>C | CA399490762 | JUP | c.2101T>G (p.Tyr701Asp) c.2152T>G (p.Tyr718Asp) | |
| 17 | g.41755881A>G | CA399490763 | JUP | c.2101T>C (p.Tyr701His) c.2152T>C (p.Tyr718His) | gnomAD v4 |
| 17 | g.41755881A>T | CA399490764 | JUP | c.2101T>A (p.Tyr701Asn) c.2152T>A (p.Tyr718Asn) | |
| 17 | g.41755882G>A | CA500020266 | JUP | c.2100C>T (p.Thr700=) c.2151C>T (p.Thr717=) | dbSNP gnomAD v2 |
| 17 | g.41755882G>C | CA500020268 | JUP | c.2100C>G (p.Thr700=) c.2151C>G (p.Thr717=) | ClinVar |
| 17 | g.41755882G= | CA2260169485 | JUP | c.2100C= (p.Thr700=) c.2151C= (p.Thr717=) | |
| 17 | g.41755882G>T | CA500020271 | JUP | c.2100C>A (p.Thr700=) c.2151C>A (p.Thr717=) | |
| 17 | g.41755883G>A | CA399490769 | JUP | c.2099C>T (p.Thr700Ile) c.2150C>T (p.Thr717Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755883G>C | CA399490767 | JUP | c.2099C>G (p.Thr700Ser) c.2150C>G (p.Thr717Ser) | |
| 17 | g.41755883G= | CA2260169486 | JUP | c.2099C= (p.Thr700=) c.2150C= (p.Thr717=) | |
| 17 | g.41755883G>T | CA399490766 | JUP | c.2099C>A (p.Thr700Asn) c.2150C>A (p.Thr717Asn) | |
| 17 | g.41755884T>A | CA399490771 | JUP | c.2098A>T (p.Thr700Ser) c.2149A>T (p.Thr717Ser) | |
| 17 | g.41755884T>C | CA399490773 | JUP | c.2098A>G (p.Thr700Ala) c.2149A>G (p.Thr717Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755884T>G | CA399490774 | JUP | c.2098A>C (p.Thr700Pro) c.2149A>C (p.Thr717Pro) | |
| 17 | g.41755884T= | CA2260169487 | JUP | c.2098A= (p.Thr700=) c.2149A= (p.Thr717=) | |
| 17 | g.41755885G>A | CA500020284 | JUP | c.2097C>T (p.Ala699=) c.2148C>T (p.Ala716=) | |
| 17 | g.41755885G>C | CA500020286 | JUP | c.2097C>G (p.Ala699=) c.2148C>G (p.Ala716=) | |
| 17 | g.41755885G>T | CA500020288 | JUP | c.2097C>A (p.Ala699=) c.2148C>A (p.Ala716=) | |
| 17 | g.41755886G>A | CA399490776 | JUP | c.2096C>T (p.Ala699Val) c.2147C>T (p.Ala716Val) | gnomAD v4 |
| 17 | g.41755886G>C | CA399490778 | JUP | c.2096C>G (p.Ala699Gly) c.2147C>G (p.Ala716Gly) | |
| 17 | g.41755886G>T | CA399490780 | JUP | c.2096C>A (p.Ala699Asp) c.2147C>A (p.Ala716Asp) | |
| 17 | g.41755887C>A | CA8565005 | JUP | c.2095G>T (p.Ala699Ser) c.2146G>T (p.Ala716Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755887C= | CA2260169488 | JUP | c.2095G= (p.Ala699=) c.2146G= (p.Ala716=) | |
| 17 | g.41755887C>G | CA399490783 | JUP | c.2095G>C (p.Ala699Pro) c.2146G>C (p.Ala716Pro) | |
| 17 | g.41755887C>T | CA399490784 | JUP | c.2095G>A (p.Ala699Thr) c.2146G>A (p.Ala716Thr) | |
| 17 | g.41755888A>C | CA399490786 | JUP | c.2094T>G (p.Asp698Glu) c.2145T>G (p.Asp715Glu) | |
| 17 | g.41755888A>G | CA500020305 | JUP | c.2094T>C (p.Asp698=) c.2145T>C (p.Asp715=) | |
| 17 | g.41755888A>T | CA399490788 | JUP | c.2094T>A (p.Asp698Glu) c.2145T>A (p.Asp715Glu) | |
| 17 | g.41755889T>A | CA399490793 | JUP | c.2093A>T (p.Asp698Val) c.2144A>T (p.Asp715Val) | |
| 17 | g.41755889T>C | CA399490791 | JUP | c.2093A>G (p.Asp698Gly) c.2144A>G (p.Asp715Gly) | |
| 17 | g.41755889T>G | CA399490790 | JUP | c.2093A>C (p.Asp698Ala) c.2144A>C (p.Asp715Ala) | |
| 17 | g.41755890C>A | CA399490794 | JUP | c.2092G>T (p.Asp698Tyr) c.2143G>T (p.Asp715Tyr) | gnomAD v4 |
| 17 | g.41755890C= | CA2260169489 | JUP | c.2092G= (p.Asp698=) c.2143G= (p.Asp715=) | |
| 17 | g.41755890C>G | CA399490798 | JUP | c.2092G>C (p.Asp698His) c.2143G>C (p.Asp715His) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755890C>T | CA399490796 | JUP | c.2092G>A (p.Asp698Asn) c.2143G>A (p.Asp715Asn) | |
| 17 | g.41755891C>A | CA399490799 | JUP | c.2091G>T (p.Met697Ile) c.2142G>T (p.Met714Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755891C= | CA2260169490 | JUP | c.2091G= (p.Met697=) c.2142G= (p.Met714=) | |
| 17 | g.41755891C>G | CA399490800 | JUP | c.2091G>C (p.Met697Ile) c.2142G>C (p.Met714Ile) | |
| 17 | g.41755891C>T | CA399490801 | JUP | c.2091G>A (p.Met697Ile) c.2142G>A (p.Met714Ile) | gnomAD v3 gnomAD v4 |
| 17 | g.41755892A>C | CA399490803 | JUP | c.2090T>G (p.Met697Arg) c.2141T>G (p.Met714Arg) | |
| 17 | g.41755892A>G | CA399490804 | JUP | c.2090T>C (p.Met697Thr) c.2141T>C (p.Met714Thr) | gnomAD v4 |
| 17 | g.41755892A>T | CA399490805 | JUP | c.2090T>A (p.Met697Lys) c.2141T>A (p.Met714Lys) | |
| 17 | g.41755893T>A | CA137178 | JUP | c.2089A>T (p.Met697Leu) c.2140A>T (p.Met714Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755893T>C | CA399490807 | JUP | c.2089A>G (p.Met697Val) c.2140A>G (p.Met714Val) | dbSNP gnomAD v4 |
| 17 | g.41755893T>G | CA399490809 | JUP | c.2089A>C (p.Met697Leu) c.2140A>C (p.Met714Leu) | dbSNP gnomAD v4 |
| 17 | g.41755893T= | CA2260169491 | JUP | c.2089A= (p.Met697=) c.2140A= (p.Met714=) | |
| 17 | g.41755893_41755899del | CA2637858003 | JUP | c.2087-4_2089del c.2138-4_2140del | gnomAD v4 |
| 17 | g.41755893_41755901del | CA2637858004 | JUP | c.2087-6_2089del c.2138-6_2140del | gnomAD v4 |
| 17 | g.41755893_41755894insCTGGGGAAGAGTACATGGGGCGGTAGGTGGCATCCAA | CA983779746 | JUP | c.2088_2089insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met697LeufsTer28) c.2139_2140insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met714LeufsTer28) | gnomAD v3 gnomAD v4 |
| 17 | g.41755894G>A | CA500020336 | JUP | c.2088C>T (p.Asp696=) c.2139C>T (p.Asp713=) | |
| 17 | g.41755894G>C | CA399490812 | JUP | c.2088C>G (p.Asp696Glu) c.2139C>G (p.Asp713Glu) | |
| 17 | g.41755894G>T | CA399490813 | JUP | c.2088C>A (p.Asp696Glu) c.2139C>A (p.Asp713Glu) | |
| 17 | g.41755895T>A | CA399490818 | JUP | c.2087A>T (p.Asp696Val) c.2138A>T (p.Asp713Val) | |
| 17 | g.41755895T>C | CA399490817 | JUP | c.2087A>G (p.Asp696Gly) c.2138A>G (p.Asp713Gly) | |
| 17 | g.41755895T>G | CA399490815 | JUP | c.2087A>C (p.Asp696Ala) c.2138A>C (p.Asp713Ala) | |
| 17 | g.41755896C>A | CA399490820 | JUP | c.2087-1G>T (n.2087-1G>T) c.2138-1G>T (n.2138-1G>T) | |
| 17 | g.41755896C>G | CA399490821 | JUP | c.2087-1G>C (n.2087-1G>C) c.2138-1G>C (n.2138-1G>C) | |
| 17 | g.41755896C>T | CA399490823 | JUP | c.2087-1G>A (n.2087-1G>A) c.2138-1G>A (n.2138-1G>A) | |
| 17 | g.41755897T>A | CA399490825 | JUP | c.2087-2A>T (n.2087-2A>T) c.2138-2A>T (n.2138-2A>T) | gnomAD v4 |
| 17 | g.41755897T>C | CA399490826 | JUP | c.2087-2A>G (n.2087-2A>G) c.2138-2A>G (n.2138-2A>G) | |
| 17 | g.41755897T>G | CA399490828 | JUP | c.2087-2A>C (n.2087-2A>C) c.2138-2A>C (n.2138-2A>C) | |
| 17 | g.41755898G>A | CA2576268736 | JUP | c.2087-3C>T (n.2087-3C>T) c.2138-3C>T (n.2138-3C>T) | |
| 17 | g.41755901del | CA2637858005 | JUP | c.2087-3del (n.2087-3del) c.2138-3del (n.2138-3del) | gnomAD v4 |
| 17 | g.41755899G>T | CA2580093700 | JUP | c.2087-4C>A (n.2087-4C>A) c.2138-4C>A (n.2138-4C>A) | ClinVar gnomAD v4 |
| 17 | g.41755900G>A | CA10650097 | JUP | c.2087-5C>T (n.2087-5C>T) c.2138-5C>T (n.2138-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755900G= | CA2260169492 | JUP | c.2087-5C= (n.2087-5C=) c.2138-5C= (n.2138-5C=) | |
| 17 | g.41755900G>T | CA2637858006 | JUP | c.2087-5C>A (n.2087-5C>A) c.2138-5C>A (n.2138-5C>A) | gnomAD v4 |
| 17 | g.41755901G>A | CA2637858007 | JUP | c.2087-6C>T (n.2087-6C>T) c.2138-6C>T (n.2138-6C>T) | gnomAD v4 |
| 17 | g.41755902_41755903insAAAAAAA | CA2637858008 | JUP | c.2087-7_2087-6insTTTTTTT (n.2087-7_2087-6insTTTTTTT) c.2138-7_2138-6insTTTTTTT (n.2138-7_2138-6insTTTTTTT) | gnomAD v4 |
| 17 | g.41755903C>A | CA626025219 | JUP | c.2087-8G>T (n.2087-8G>T) c.2138-8G>T (n.2138-8G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755903C= | CA2260169493 | JUP | c.2087-8G= (n.2087-8G=) c.2138-8G= (n.2138-8G=) | |
| 17 | g.41755903C>T | CA2580093701 | JUP | c.2087-8G>A (n.2087-8G>A) c.2138-8G>A (n.2138-8G>A) | ClinVar |
| 17 | g.41755903_41755904delinsAG | CA2573153757 | JUP | c.2087-9_2087-8delinsCT (n.2087-9_2087-8delinsCT) c.2138-9_2138-8delinsCT (n.2138-9_2138-8delinsCT) | ClinVar dbSNP |
| 17 | g.41755904A= | CA2260169494 | JUP | c.2087-9T= (n.2087-9T=) c.2138-9T= (n.2138-9T=) | |
| 17 | g.41755904A>G | CA2260169495 | JUP | c.2087-9T>C (n.2087-9T>C) c.2138-9T>C (n.2138-9T>C) | dbSNP |
| 17 | g.41755908del | CA2637858009 | JUP | c.2087-9del (n.2087-9del) c.2138-9del (n.2138-9del) | gnomAD v4 |
| 17 | g.41755905A>G | CA2637858010 | JUP | c.2087-10T>C (n.2087-10T>C) c.2138-10T>C (n.2138-10T>C) | gnomAD v4 |
| 17 | g.41755906A>G | CA2637858011 | JUP | c.2087-11T>C (n.2087-11T>C) c.2138-11T>C (n.2138-11T>C) | gnomAD v4 |
| 17 | g.41755907A>G | CA2637858012 | JUP | c.2087-12T>C (n.2087-12T>C) c.2138-12T>C (n.2138-12T>C) | gnomAD v4 |
| 17 | g.41755908A>G | CA2637858013 | JUP | c.2087-13T>C (n.2087-13T>C) c.2138-13T>C (n.2138-13T>C) | gnomAD v4 |
| 17 | g.41755909G>A | CA8565006 | JUP | c.2087-14C>T (n.2087-14C>T) c.2138-14C>T (n.2138-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755909G= | CA2260169496 | JUP | c.2087-14C= (n.2087-14C=) c.2138-14C= (n.2138-14C=) | |
| 17 | g.41755910T>G | CA983779758 | JUP | c.2087-15A>C (n.2087-15A>C) c.2138-15A>C (n.2138-15A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755910T= | CA2260169497 | JUP | c.2087-15A= (n.2087-15A=) c.2138-15A= (n.2138-15A=) | |
| 17 | g.41755911G>T | CA2637858015 | JUP | c.2087-16C>A (n.2087-16C>A) c.2138-16C>A (n.2138-16C>A) | gnomAD v4 |
| 17 | g.41755914del | CA2637858014 | JUP | c.2087-16del (n.2087-16del) c.2138-16del (n.2138-16del) | gnomAD v4 |