Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.97015006delCA2674699047LNPEPc.2287del (p.Ala763HisfsTer30)
c.2245del (p.Ala749HisfsTer30)
gnomAD v4
5g.97015006G>ACA3354210LNPEPc.2287G>A (p.Ala763Thr)
c.2245G>A (p.Ala749Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.97015006G>CCA360508091LNPEPc.2287G>C (p.Ala763Pro)
c.2245G>C (p.Ala749Pro)
5g.97015006G=CA1565681241LNPEPc.2287G= (p.Ala763=)
c.2245G= (p.Ala749=)
5g.97015006G>TCA360508095LNPEPc.2287G>T (p.Ala763Ser)
c.2245G>T (p.Ala749Ser)
5g.97015007C>ACA360508096LNPEPc.2288C>A (p.Ala763Glu)
c.2246C>A (p.Ala749Glu)
5g.97015007C>GCA360508098LNPEPc.2288C>G (p.Ala763Gly)
c.2246C>G (p.Ala749Gly)
5g.97015007C>TCA360508100LNPEPc.2288C>T (p.Ala763Val)
c.2246C>T (p.Ala749Val)
5g.97015008A>CCA445518217LNPEPc.2289A>C (p.Ala763=)
c.2247A>C (p.Ala749=)
5g.97015008A>GCA445518219LNPEPc.2289A>G (p.Ala763=)
c.2247A>G (p.Ala749=)
5g.97015008A>TCA445518220LNPEPc.2289A>T (p.Ala763=)
c.2247A>T (p.Ala749=)
5g.97015009C>ACA360508103LNPEPc.2290C>A (p.Pro764Thr)
c.2248C>A (p.Pro750Thr)
gnomAD v4
5g.97015009C>GCA360508104LNPEPc.2290C>G (p.Pro764Ala)
c.2248C>G (p.Pro750Ala)
5g.97015009C>TCA360508106LNPEPc.2290C>T (p.Pro764Ser)
c.2248C>T (p.Pro750Ser)
gnomAD v4 COSMIC
5g.97015011delCA2674699048LNPEPc.2292del (p.Ile765SerfsTer28)
c.2250del (p.Ile751SerfsTer28)
gnomAD v4
5g.97015010C>ACA360508109LNPEPc.2291C>A (p.Pro764His)
c.2249C>A (p.Pro750His)
5g.97015010C>GCA360508111LNPEPc.2291C>G (p.Pro764Arg)
c.2249C>G (p.Pro750Arg)
5g.97015010C>TCA360508113LNPEPc.2291C>T (p.Pro764Leu)
c.2249C>T (p.Pro750Leu)
gnomAD v4
5g.97015011C>ACA445518227LNPEPc.2292C>A (p.Pro764=)
c.2250C>A (p.Pro750=)
gnomAD v4
5g.97015011C>GCA445518231LNPEPc.2292C>G (p.Pro764=)
c.2250C>G (p.Pro750=)
5g.97015011C>TCA445518229LNPEPc.2292C>T (p.Pro764=)
c.2250C>T (p.Pro750=)
gnomAD v4
5g.97015012A=CA1565681242LNPEPc.2293A= (p.Ile765=)
c.2251A= (p.Ile751=)
5g.97015012A>CCA360508118LNPEPc.2293A>C (p.Ile765Leu)
c.2251A>C (p.Ile751Leu)
5g.97015012A>GCA360508121LNPEPc.2293A>G (p.Ile765Val)
c.2251A>G (p.Ile751Val)
dbSNP
5g.97015012A>TCA360508124LNPEPc.2293A>T (p.Ile765Phe)
c.2251A>T (p.Ile751Phe)
gnomAD v4
5g.97015012_97015013insGCA2564969290LNPEPc.2293_2294insG (p.Ile765SerfsTer13)
c.2251_2252insG (p.Ile751SerfsTer13)
5g.97015013T>ACA360508127LNPEPc.2294T>A (p.Ile765Asn)
c.2252T>A (p.Ile751Asn)
5g.97015013T>CCA360508131LNPEPc.2294T>C (p.Ile765Thr)
c.2252T>C (p.Ile751Thr)
5g.97015013T>GCA360508129LNPEPc.2294T>G (p.Ile765Ser)
c.2252T>G (p.Ile751Ser)
5g.97015014C>ACA445518237LNPEPc.2295C>A (p.Ile765=)
c.2253C>A (p.Ile751=)
5g.97015014C>GCA360508133LNPEPc.2295C>G (p.Ile765Met)
c.2253C>G (p.Ile751Met)
5g.97015014C>TCA445518238LNPEPc.2295C>T (p.Ile765=)
c.2253C>T (p.Ile751=)
5g.97015014_97015017delCA2674699049LNPEPc.2295_2298del (p.Ile765MetfsTer27)
c.2253_2256del (p.Ile751MetfsTer27)
gnomAD v4
5g.97015015A>CCA360508139LNPEPc.2296A>C (p.Thr766Pro)
c.2254A>C (p.Thr752Pro)
5g.97015015A>GCA360508134LNPEPc.2296A>G (p.Thr766Ala)
c.2254A>G (p.Thr752Ala)
5g.97015015A>TCA360508135LNPEPc.2296A>T (p.Thr766Ser)
c.2254A>T (p.Thr752Ser)
5g.97015016C>ACA360508142LNPEPc.2297C>A (p.Thr766Asn)
c.2255C>A (p.Thr752Asn)
gnomAD v4
5g.97015016C>GCA360508143LNPEPc.2297C>G (p.Thr766Ser)
c.2255C>G (p.Thr752Ser)
5g.97015016C>TCA360508145LNPEPc.2297C>T (p.Thr766Ile)
c.2255C>T (p.Thr752Ile)
5g.97015017C>ACA445518242LNPEPc.2298C>A (p.Thr766=)
c.2256C>A (p.Thr752=)
5g.97015017C=CA1565681243LNPEPc.2298C= (p.Thr766=)
c.2256C= (p.Thr752=)
5g.97015017C>GCA445518243LNPEPc.2298C>G (p.Thr766=)
c.2256C>G (p.Thr752=)
dbSNP gnomAD v3 gnomAD v4
5g.97015017C>TCA3354211LNPEPc.2298C>T (p.Thr766=)
c.2256C>T (p.Thr752=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.97015018G>ACA3354212LNPEPc.2299G>A (p.Glu767Lys)
c.2257G>A (p.Glu753Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.97015018G>CCA360508155LNPEPc.2299G>C (p.Glu767Gln)
c.2257G>C (p.Glu753Gln)
5g.97015018G=CA1565681244LNPEPc.2299G= (p.Glu767=)
c.2257G= (p.Glu753=)
5g.97015018G>TCA360508157LNPEPc.2299G>T (p.Glu767Ter)
c.2257G>T (p.Glu753Ter)
5g.97015019A>CCA360508160LNPEPc.2300A>C (p.Glu767Ala)
c.2258A>C (p.Glu753Ala)
5g.97015019A>GCA360508163LNPEPc.2300A>G (p.Glu767Gly)
c.2258A>G (p.Glu753Gly)
5g.97015019A>TCA360508168LNPEPc.2300A>T (p.Glu767Val)
c.2258A>T (p.Glu753Val)

Number of alleles fetched