Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41755793C>ACA399490365JUPc.2189G>T (p.Ser730Ile)
c.2240G>T (p.Ser747Ile)
17g.41755793C>GCA399490366JUPc.2189G>C (p.Ser730Thr)
c.2240G>C (p.Ser747Thr)
17g.41755793C>TCA8564991JUPc.2189G>A (p.Ser730Asn)
c.2240G>A (p.Ser747Asn)
ClinVar dbSNP ExAC gnomAD
17g.41755794T>ACA399490368JUPc.2188A>T (p.Ser730Cys)
c.2239A>T (p.Ser747Cys)
17g.41755794T>CCA290694718JUPc.2188A>G (p.Ser730Gly)
c.2239A>G (p.Ser747Gly)
dbSNP
17g.41755794T>GCA399490373JUPc.2188A>C (p.Ser730Arg)
c.2239A>C (p.Ser747Arg)
17g.41755795G>ACA8564992JUPc.2187C>T (p.Tyr729=)
c.2238C>T (p.Tyr746=)
dbSNP ExAC gnomAD
17g.41755795G>CCA399490376JUPc.2187C>G (p.Tyr729Ter)
c.2238C>G (p.Tyr746Ter)
17g.41755795G>TCA399490377JUPc.2187C>A (p.Tyr729Ter)
c.2238C>A (p.Tyr746Ter)
17g.41755796T>ACA399490381JUPc.2186A>T (p.Tyr729Phe)
c.2237A>T (p.Tyr746Phe)
17g.41755796T>CCA399490380JUPc.2186A>G (p.Tyr729Cys)
c.2237A>G (p.Tyr746Cys)
17g.41755796T>GCA399490379JUPc.2186A>C (p.Tyr729Ser)
c.2237A>C (p.Tyr746Ser)
17g.41755797A>CCA399490382JUPc.2185T>G (p.Tyr729Asp)
c.2236T>G (p.Tyr746Asp)
17g.41755797A>GCA399490383JUPc.2185T>C (p.Tyr729His)
c.2236T>C (p.Tyr746His)
gnomAD
17g.41755797A>TCA399490384JUPc.2185T>A (p.Tyr729Asn)
c.2236T>A (p.Tyr746Asn)
17g.41755798G>ACA500019750JUPc.2184C>T (p.Thr728=)
c.2235C>T (p.Thr745=)
COSMIC
17g.41755798G>CCA500019753JUPc.2184C>G (p.Thr728=)
c.2235C>G (p.Thr745=)
17g.41755798G>TCA500019755JUPc.2184C>A (p.Thr728=)
c.2235C>A (p.Thr745=)
17g.41755799G>ACA399490385JUPc.2183C>T (p.Thr728Ile)
c.2234C>T (p.Thr745Ile)
17g.41755799G>CCA399490386JUPc.2183C>G (p.Thr728Ser)
c.2234C>G (p.Thr745Ser)
17g.41755799G>TCA399490387JUPc.2183C>A (p.Thr728Asn)
c.2234C>A (p.Thr745Asn)
17g.41755800T>ACA399490392JUPc.2182A>T (p.Thr728Ser)
c.2233A>T (p.Thr745Ser)
17g.41755800T>CCA399490389JUPc.2182A>G (p.Thr728Ala)
c.2233A>G (p.Thr745Ala)
17g.41755800T>GCA399490391JUPc.2182A>C (p.Thr728Pro)
c.2233A>C (p.Thr745Pro)
17g.41755801G>ACA500019766JUPc.2181C>T (p.Asp727=)
c.2232C>T (p.Asp744=)
17g.41755801G>CCA399490393JUPc.2181C>G (p.Asp727Glu)
c.2232C>G (p.Asp744Glu)
17g.41755801G>TCA399490395JUPc.2181C>A (p.Asp727Glu)
c.2232C>A (p.Asp744Glu)
17g.41755802T>ACA399490397JUPc.2180A>T (p.Asp727Val)
c.2231A>T (p.Asp744Val)
17g.41755802T>CCA399490399JUPc.2180A>G (p.Asp727Gly)
c.2231A>G (p.Asp744Gly)
17g.41755802T>GCA399490400JUPc.2180A>C (p.Asp727Ala)
c.2231A>C (p.Asp744Ala)
17g.41755803C>ACA399490402JUPc.2179G>T (p.Asp727Tyr)
c.2230G>T (p.Asp744Tyr)
17g.41755803C>GCA399490404JUPc.2179G>C (p.Asp727His)
c.2230G>C (p.Asp744His)
17g.41755803C>TCA399490403JUPc.2179G>A (p.Asp727Asn)
c.2230G>A (p.Asp744Asn)
ClinVar gnomAD
17g.41755804G>ACA137188JUPc.2178C>T (p.Ile726=)
c.2229C>T (p.Ile743=)
ClinVar dbSNP ExAC gnomAD
17g.41755804G>CCA399490405JUPc.2178C>G (p.Ile726Met)
c.2229C>G (p.Ile743Met)
17g.41755804G>TCA500019781JUPc.2178C>A (p.Ile726=)
c.2229C>A (p.Ile743=)
17g.41755805A>CCA399490406JUPc.2177T>G (p.Ile726Ser)
c.2228T>G (p.Ile743Ser)
17g.41755805A>GCA399490407JUPc.2177T>C (p.Ile726Thr)
c.2228T>C (p.Ile743Thr)
17g.41755805A>TCA399490409JUPc.2177T>A (p.Ile726Asn)
c.2228T>A (p.Ile743Asn)
17g.41755806T>ACA399490411JUPc.2176A>T (p.Ile726Phe)
c.2227A>T (p.Ile743Phe)
17g.41755806T>CCA399490412JUPc.2176A>G (p.Ile726Val)
c.2227A>G (p.Ile743Val)
gnomAD
17g.41755806T>GCA399490414JUPc.2176A>C (p.Ile726Leu)
c.2227A>C (p.Ile743Leu)
17g.41755807G>ACA500019793JUPc.2175C>T (p.Pro725=)
c.2226C>T (p.Pro742=)
17g.41755807G>CCA500019795JUPc.2175C>G (p.Pro725=)
c.2226C>G (p.Pro742=)
17g.41755807G>TCA500019798JUPc.2175C>A (p.Pro725=)
c.2226C>A (p.Pro742=)
17g.41755807delCA500019800JUPc.2172del (p.Ile726SerfsTer?)
c.2223del (p.Ile743SerfsTer?)
COSMIC
17g.41755808G>ACA399490416JUPc.2174C>T (p.Pro725Leu)
c.2225C>T (p.Pro742Leu)
17g.41755808G>CCA399490418JUPc.2174C>G (p.Pro725Arg)
c.2225C>G (p.Pro742Arg)
17g.41755808G>TCA399490419JUPc.2174C>A (p.Pro725His)
c.2225C>A (p.Pro742His)
17g.41755809G>ACA399490423JUPc.2173C>T (p.Pro725Ser)
c.2224C>T (p.Pro742Ser)

Number of alleles fetched