Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41755893T>ACA137178JUPc.2089A>T (p.Met697Leu)
c.2140A>T (p.Met714Leu)
ClinVar dbSNP ExAC gnomAD
17g.41755893T>CCA399490807JUPc.2089A>G (p.Met697Val)
c.2140A>G (p.Met714Val)
17g.41755893T>GCA399490809JUPc.2089A>C (p.Met697Leu)
c.2140A>C (p.Met714Leu)
17g.41755893_41755894insCTGGGGAAGAGTACATGGGGCGGTAGGTGGCATCCAACA983779746JUPc.2088_2089insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met697LeufsTer28)
c.2139_2140insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met714LeufsTer28)
17g.41755894G>ACA500020336JUPc.2088C>T (p.Asp696=)
c.2139C>T (p.Asp713=)
17g.41755894G>CCA399490812JUPc.2088C>G (p.Asp696Glu)
c.2139C>G (p.Asp713Glu)
17g.41755894G>TCA399490813JUPc.2088C>A (p.Asp696Glu)
c.2139C>A (p.Asp713Glu)
17g.41755895T>ACA399490818JUPc.2087A>T (p.Asp696Val)
c.2138A>T (p.Asp713Val)
17g.41755895T>CCA399490817JUPc.2087A>G (p.Asp696Gly)
c.2138A>G (p.Asp713Gly)
17g.41755895T>GCA399490815JUPc.2087A>C (p.Asp696Ala)
c.2138A>C (p.Asp713Ala)
17g.41755896C>ACA399490820JUPc.2087-1G>T (p.=)
c.2138-1G>T (p.=)
17g.41755896C>GCA399490821JUPc.2087-1G>C (p.=)
c.2138-1G>C (p.=)
17g.41755896C>TCA399490823JUPc.2087-1G>A (p.=)
c.2138-1G>A (p.=)
17g.41755897T>ACA399490825JUPc.2087-2A>T (p.=)
c.2138-2A>T (p.=)
17g.41755897T>CCA399490826JUPc.2087-2A>G (p.=)
c.2138-2A>G (p.=)
17g.41755897T>GCA399490828JUPc.2087-2A>C (p.=)
c.2138-2A>C (p.=)
17g.41755900G>ACA10650097JUPc.2087-5C>T (p.=)
c.2138-5C>T (p.=)
ClinVar dbSNP gnomAD
17g.41755903C>ACA626025219JUPc.2087-8G>T (p.=)
c.2138-8G>T (p.=)
gnomAD
17g.41755909G>ACA8565006JUPc.2087-14C>T (p.=)
c.2138-14C>T (p.=)
dbSNP ExAC gnomAD
17g.41755910T>GCA983779758JUPc.2087-15A>C (p.=)
c.2138-15A>C (p.=)
17g.41755913G>ACA8565007JUPc.2087-18C>T (p.=)
c.2138-18C>T (p.=)
ClinVar dbSNP ExAC gnomAD
17g.41755917C>TCA8565008JUPc.2087-22G>A (p.=)
c.2138-22G>A (p.=)
dbSNP ExAC gnomAD
17g.41755918G>ACA8565009JUPc.2087-23C>T (p.=)
c.2138-23C>T (p.=)
dbSNP ExAC gnomAD
17g.41755919G>TCA626025220JUPc.2087-24C>A (p.=)
c.2138-24C>A (p.=)
gnomAD
17g.41755925G>ACA772060276JUPc.2087-30C>T (p.=)
c.2138-30C>T (p.=)
17g.41755929C>GCA8565010JUPc.2087-34G>C (p.=)
c.2138-34G>C (p.=)
dbSNP ExAC gnomAD
17g.41755935G>TCA626025221JUPc.2087-40C>A (p.=)
c.2138-40C>A (p.=)
gnomAD
17g.41755936C>GCA626025222JUPc.2087-41G>C (p.=)
c.2138-41G>C (p.=)
gnomAD
17g.41755936C>TCA8565011JUPc.2087-41G>A (p.=)
c.2138-41G>A (p.=)
dbSNP ExAC gnomAD
17g.41755940C>ACA290694768JUPc.2087-45G>T (p.=)
c.2138-45G>T (p.=)
dbSNP gnomAD
17g.41755943G>ACA772060283JUPc.2087-48C>T (p.=)
c.2138-48C>T (p.=)
17g.41755943G>TCA290694776JUPc.2087-48C>A (p.=)
c.2138-48C>A (p.=)
dbSNP
17g.41755944C>ACA983779778JUPc.2087-49G>T (p.=)
c.2138-49G>T (p.=)
17g.41755949A>CCA656362506JUPc.2087-54T>G (p.=)
c.2138-54T>G (p.=)
COSMIC
17g.41755952A>CCA772060288JUPc.2087-57T>G (p.=)
c.2138-57T>G (p.=)
17g.41755958C>TCA626025223JUPc.2087-63G>A (p.=)
c.2138-63G>A (p.=)
gnomAD
17g.41755961A>GCA626025224JUPc.2087-66T>C (p.=)
c.2138-66T>C (p.=)
gnomAD
17g.41755963C>TCA983779784JUPc.2087-68G>A (p.=)
c.2138-68G>A (p.=)
17g.41755966T>CCA290694777JUPc.2087-71A>G (p.=)
c.2138-71A>G (p.=)
dbSNP
17g.41755967C>TCA290694778JUPc.2087-72G>A (p.=)
c.2138-72G>A (p.=)
dbSNP
17g.41755979C>GCA500020368JUPc.2087-84G>C (p.=)
c.2138-84G>C (p.=)
17g.41755986T>CCA772060308JUPc.2087-91A>G (p.=)
c.2138-91A>G (p.=)
17g.41755990C>ACA772060310JUPc.2087-95G>T (p.=)
c.2138-95G>T (p.=)
17g.41755991A>CCA983779786JUPc.2087-96T>G (p.=)
c.2138-96T>G (p.=)
17g.41755992C>ACA290694781JUPc.2087-97G>T (p.=)
c.2138-97G>T (p.=)
dbSNP
17g.41755995delCA983779787JUPc.2087-97del (p.=)
c.2138-97del (p.=)

Number of alleles fetched