| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41755893T>A | CA137178 | JUP | c.2089A>T (p.Met697Leu) c.2140A>T (p.Met714Leu) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.41755893T>C | CA399490807 | JUP | c.2089A>G (p.Met697Val) c.2140A>G (p.Met714Val) | |
| 17 | g.41755893T>G | CA399490809 | JUP | c.2089A>C (p.Met697Leu) c.2140A>C (p.Met714Leu) | |
| 17 | g.41755893_41755894insCTGGGGAAGAGTACATGGGGCGGTAGGTGGCATCCAA | CA983779746 | JUP | c.2088_2089insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met697LeufsTer28) c.2139_2140insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met714LeufsTer28) | |
| 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 (p.=) c.2138-1G>T (p.=) | |
| 17 | g.41755896C>G | CA399490821 | JUP | c.2087-1G>C (p.=) c.2138-1G>C (p.=) | |
| 17 | g.41755896C>T | CA399490823 | JUP | c.2087-1G>A (p.=) c.2138-1G>A (p.=) | |
| 17 | g.41755897T>A | CA399490825 | JUP | c.2087-2A>T (p.=) c.2138-2A>T (p.=) | |
| 17 | g.41755897T>C | CA399490826 | JUP | c.2087-2A>G (p.=) c.2138-2A>G (p.=) | |
| 17 | g.41755897T>G | CA399490828 | JUP | c.2087-2A>C (p.=) c.2138-2A>C (p.=) | |
| 17 | g.41755900G>A | CA10650097 | JUP | c.2087-5C>T (p.=) c.2138-5C>T (p.=) | ClinVar dbSNP gnomAD |
| 17 | g.41755903C>A | CA626025219 | JUP | c.2087-8G>T (p.=) c.2138-8G>T (p.=) | gnomAD |
| 17 | g.41755909G>A | CA8565006 | JUP | c.2087-14C>T (p.=) c.2138-14C>T (p.=) | dbSNP ExAC gnomAD |
| 17 | g.41755910T>G | CA983779758 | JUP | c.2087-15A>C (p.=) c.2138-15A>C (p.=) | |
| 17 | g.41755913G>A | CA8565007 | JUP | c.2087-18C>T (p.=) c.2138-18C>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.41755917C>T | CA8565008 | JUP | c.2087-22G>A (p.=) c.2138-22G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.41755918G>A | CA8565009 | JUP | c.2087-23C>T (p.=) c.2138-23C>T (p.=) | dbSNP ExAC gnomAD |
| 17 | g.41755919G>T | CA626025220 | JUP | c.2087-24C>A (p.=) c.2138-24C>A (p.=) | gnomAD |
| 17 | g.41755925G>A | CA772060276 | JUP | c.2087-30C>T (p.=) c.2138-30C>T (p.=) | |
| 17 | g.41755929C>G | CA8565010 | JUP | c.2087-34G>C (p.=) c.2138-34G>C (p.=) | dbSNP ExAC gnomAD |
| 17 | g.41755935G>T | CA626025221 | JUP | c.2087-40C>A (p.=) c.2138-40C>A (p.=) | gnomAD |
| 17 | g.41755936C>G | CA626025222 | JUP | c.2087-41G>C (p.=) c.2138-41G>C (p.=) | gnomAD |
| 17 | g.41755936C>T | CA8565011 | JUP | c.2087-41G>A (p.=) c.2138-41G>A (p.=) | dbSNP ExAC gnomAD |
| 17 | g.41755940C>A | CA290694768 | JUP | c.2087-45G>T (p.=) c.2138-45G>T (p.=) | dbSNP gnomAD |
| 17 | g.41755943G>A | CA772060283 | JUP | c.2087-48C>T (p.=) c.2138-48C>T (p.=) | |
| 17 | g.41755943G>T | CA290694776 | JUP | c.2087-48C>A (p.=) c.2138-48C>A (p.=) | dbSNP |
| 17 | g.41755944C>A | CA983779778 | JUP | c.2087-49G>T (p.=) c.2138-49G>T (p.=) | |
| 17 | g.41755949A>C | CA656362506 | JUP | c.2087-54T>G (p.=) c.2138-54T>G (p.=) | COSMIC |
| 17 | g.41755952A>C | CA772060288 | JUP | c.2087-57T>G (p.=) c.2138-57T>G (p.=) | |
| 17 | g.41755958C>T | CA626025223 | JUP | c.2087-63G>A (p.=) c.2138-63G>A (p.=) | gnomAD |
| 17 | g.41755961A>G | CA626025224 | JUP | c.2087-66T>C (p.=) c.2138-66T>C (p.=) | gnomAD |
| 17 | g.41755963C>T | CA983779784 | JUP | c.2087-68G>A (p.=) c.2138-68G>A (p.=) | |
| 17 | g.41755966T>C | CA290694777 | JUP | c.2087-71A>G (p.=) c.2138-71A>G (p.=) | dbSNP |
| 17 | g.41755967C>T | CA290694778 | JUP | c.2087-72G>A (p.=) c.2138-72G>A (p.=) | dbSNP |
| 17 | g.41755979C>G | CA500020368 | JUP | c.2087-84G>C (p.=) c.2138-84G>C (p.=) | |
| 17 | g.41755986T>C | CA772060308 | JUP | c.2087-91A>G (p.=) c.2138-91A>G (p.=) | |
| 17 | g.41755990C>A | CA772060310 | JUP | c.2087-95G>T (p.=) c.2138-95G>T (p.=) | |
| 17 | g.41755991A>C | CA983779786 | JUP | c.2087-96T>G (p.=) c.2138-96T>G (p.=) | |
| 17 | g.41755992C>A | CA290694781 | JUP | c.2087-97G>T (p.=) c.2138-97G>T (p.=) | dbSNP |
| 17 | g.41755992del | CA983779787 | JUP | c.2087-100del (p.=) c.2138-100del (p.=) |