Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41755843_41755923dup | CA2593969248 | JUP | c.2087-28_2139dup c.2138-28_2190dup | gnomAD v3 gnomAD v4 |
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) |