| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |