| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755793C>A | CA399490365 | JUP | c.2189G>T (p.Ser730Ile) c.2240G>T (p.Ser747Ile) | |
| 17 | g.41755793C= | CA2260169445 | JUP | c.2189G= (p.Ser730=) c.2240G= (p.Ser747=) | |
| 17 | g.41755793C>G | CA399490366 | JUP | c.2189G>C (p.Ser730Thr) c.2240G>C (p.Ser747Thr) | |
| 17 | g.41755793C>T | CA8564991 | JUP | c.2189G>A (p.Ser730Asn) c.2240G>A (p.Ser747Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755794T>A | CA399490368 | JUP | c.2188A>T (p.Ser730Cys) c.2239A>T (p.Ser747Cys) | |
| 17 | g.41755794T>C | CA290694718 | JUP | c.2188A>G (p.Ser730Gly) c.2239A>G (p.Ser747Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755794T>G | CA399490373 | JUP | c.2188A>C (p.Ser730Arg) c.2239A>C (p.Ser747Arg) | |
| 17 | g.41755794T= | CA2260169446 | JUP | c.2188A= (p.Ser730=) c.2239A= (p.Ser747=) | |
| 17 | g.41755795G>A | CA8564992 | JUP | c.2187C>T (p.Tyr729=) c.2238C>T (p.Tyr746=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755795G>C | CA399490376 | JUP | c.2187C>G (p.Tyr729Ter) c.2238C>G (p.Tyr746Ter) | |
| 17 | g.41755795G= | CA2260169447 | JUP | c.2187C= (p.Tyr729=) c.2238C= (p.Tyr746=) | |
| 17 | g.41755795G>T | CA399490377 | JUP | c.2187C>A (p.Tyr729Ter) c.2238C>A (p.Tyr746Ter) | |
| 17 | g.41755796T>A | CA399490381 | JUP | c.2186A>T (p.Tyr729Phe) c.2237A>T (p.Tyr746Phe) | gnomAD v4 |
| 17 | g.41755796T>C | CA399490380 | JUP | c.2186A>G (p.Tyr729Cys) c.2237A>G (p.Tyr746Cys) | |
| 17 | g.41755796T>G | CA399490379 | JUP | c.2186A>C (p.Tyr729Ser) c.2237A>C (p.Tyr746Ser) | |
| 17 | g.41755797A= | CA2260169448 | JUP | c.2185T= (p.Tyr729=) c.2236T= (p.Tyr746=) | |
| 17 | g.41755797A>C | CA399490382 | JUP | c.2185T>G (p.Tyr729Asp) c.2236T>G (p.Tyr746Asp) | |
| 17 | g.41755797A>G | CA399490383 | JUP | c.2185T>C (p.Tyr729His) c.2236T>C (p.Tyr746His) | dbSNP gnomAD v2 |
| 17 | g.41755797A>T | CA399490384 | JUP | c.2185T>A (p.Tyr729Asn) c.2236T>A (p.Tyr746Asn) | ClinVar dbSNP |
| 17 | g.41755798G>A | CA500019750 | JUP | c.2184C>T (p.Thr728=) c.2235C>T (p.Thr745=) | COSMIC |
| 17 | g.41755798G>C | CA500019753 | JUP | c.2184C>G (p.Thr728=) c.2235C>G (p.Thr745=) | |
| 17 | g.41755798G>T | CA500019755 | JUP | c.2184C>A (p.Thr728=) c.2235C>A (p.Thr745=) | |
| 17 | g.41755799G>A | CA399490385 | JUP | c.2183C>T (p.Thr728Ile) c.2234C>T (p.Thr745Ile) | gnomAD v4 |
| 17 | g.41755799G>C | CA399490386 | JUP | c.2183C>G (p.Thr728Ser) c.2234C>G (p.Thr745Ser) | |
| 17 | g.41755799G>T | CA399490387 | JUP | c.2183C>A (p.Thr728Asn) c.2234C>A (p.Thr745Asn) | |
| 17 | g.41755800T>A | CA399490392 | JUP | c.2182A>T (p.Thr728Ser) c.2233A>T (p.Thr745Ser) | |
| 17 | g.41755800T>C | CA399490389 | JUP | c.2182A>G (p.Thr728Ala) c.2233A>G (p.Thr745Ala) | |
| 17 | g.41755800T>G | CA399490391 | JUP | c.2182A>C (p.Thr728Pro) c.2233A>C (p.Thr745Pro) | |
| 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=) |