Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77926763A>CCA418709275NEXNc.735A>C (p.Gly245=)
c.543A>C (p.Gly181=)
c.434A>C
c.693A>C (p.Gly231=)
n.195A>C
c.501A>C (p.Gly167=)
c.448-2553A>C (n.448-2553A>C)
1g.77926763A>GCA418709276NEXNc.735A>G (p.Gly245=)
c.543A>G (p.Gly181=)
c.434A>G
c.693A>G (p.Gly231=)
n.195A>G
c.501A>G (p.Gly167=)
c.448-2553A>G (n.448-2553A>G)
1g.77926763A>TCA418709277NEXNc.735A>T (p.Gly245=)
c.543A>T (p.Gly181=)
c.434A>T
c.693A>T (p.Gly231=)
n.195A>T
c.501A>T (p.Gly167=)
c.448-2553A>T (n.448-2553A>T)
1g.77926764A>CCA340873737NEXNc.736A>C (p.Lys246Gln)
c.544A>C (p.Lys182Gln)
c.435A>C
c.694A>C (p.Lys232Gln)
n.196A>C
c.502A>C (p.Lys168Gln)
c.448-2552A>C (n.448-2552A>C)
1g.77926764A>GCA340873739NEXNc.736A>G (p.Lys246Glu)
c.544A>G (p.Lys182Glu)
c.435A>G
c.694A>G (p.Lys232Glu)
n.196A>G
c.502A>G (p.Lys168Glu)
c.448-2552A>G (n.448-2552A>G)
1g.77926764A>TCA340873742NEXNc.736A>T (p.Lys246Ter)
c.544A>T (p.Lys182Ter)
c.435A>T
c.694A>T (p.Lys232Ter)
n.196A>T
c.502A>T (p.Lys168Ter)
c.448-2552A>T (n.448-2552A>T)
1g.77926765A>CCA340873754NEXNc.737A>C (p.Lys246Thr)
c.545A>C (p.Lys182Thr)
c.436A>C
c.695A>C (p.Lys232Thr)
n.197A>C
c.503A>C (p.Lys168Thr)
c.448-2551A>C (n.448-2551A>C)
1g.77926765A>GCA340873760NEXNc.737A>G (p.Lys246Arg)
c.545A>G (p.Lys182Arg)
c.436A>G
c.695A>G (p.Lys232Arg)
n.197A>G
c.503A>G (p.Lys168Arg)
c.448-2551A>G (n.448-2551A>G)
 gnomAD v4
1g.77926765A>TCA340873756NEXNc.737A>T (p.Lys246Ile)
c.545A>T (p.Lys182Ile)
c.436A>T
c.695A>T (p.Lys232Ile)
n.197A>T
c.503A>T (p.Lys168Ile)
c.448-2551A>T (n.448-2551A>T)
1g.77926766A>CCA340873773NEXNc.738A>C (p.Lys246Asn)
c.546A>C (p.Lys182Asn)
c.437A>C
c.696A>C (p.Lys232Asn)
n.198A>C
c.504A>C (p.Lys168Asn)
c.448-2550A>C (n.448-2550A>C)
1g.77926766A>GCA418709278NEXNc.738A>G (p.Lys246=)
c.546A>G (p.Lys182=)
c.437A>G
c.696A>G (p.Lys232=)
n.198A>G
c.504A>G (p.Lys168=)
c.448-2550A>G (n.448-2550A>G)
1g.77926766A>TCA340873775NEXNc.738A>T (p.Lys246Asn)
c.546A>T (p.Lys182Asn)
c.437A>T
c.696A>T (p.Lys232Asn)
n.198A>T
c.504A>T (p.Lys168Asn)
c.448-2550A>T (n.448-2550A>T)
1g.77926767T>ACA340873782NEXNc.739T>A (p.Leu247Met)
c.547T>A (p.Leu183Met)
c.438T>A
c.697T>A (p.Leu233Met)
n.199T>A
c.505T>A (p.Leu169Met)
c.448-2549T>A (n.448-2549T>A)
1g.77926767T>CCA918724NEXNc.739T>C (p.Leu247=)
c.547T>C (p.Leu183=)
c.438T>C
c.697T>C (p.Leu233=)
n.199T>C
c.505T>C (p.Leu169=)
c.448-2549T>C (n.448-2549T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926767T>GCA340873796NEXNc.739T>G (p.Leu247Val)
c.547T>G (p.Leu183Val)
c.438T>G
c.697T>G (p.Leu233Val)
n.199T>G
c.505T>G (p.Leu169Val)
c.448-2549T>G (n.448-2549T>G)
1g.77926767T=CA1177623805NEXNc.739T= (p.Leu247=)
c.547T= (p.Leu183=)
c.438T=
c.697T= (p.Leu233=)
n.199T=
c.505T= (p.Leu169=)
c.448-2549T= (n.448-2549T=)
1g.77926768delCA2574414045NEXNc.740del (p.Leu247Ter)
c.548del (p.Leu183Ter)
c.439del
c.698del (p.Leu233Ter)
n.200del
c.506del (p.Leu169Ter)
c.448-2548del (n.448-2548del)
1g.77926768T>ACA340873798NEXNc.740T>A (p.Leu247Ter)
c.548T>A (p.Leu183Ter)
c.439T>A
c.698T>A (p.Leu233Ter)
n.200T>A
c.506T>A (p.Leu169Ter)
c.448-2548T>A (n.448-2548T>A)
1g.77926768T>CCA340873799NEXNc.740T>C (p.Leu247Ser)
c.548T>C (p.Leu183Ser)
c.439T>C
c.698T>C (p.Leu233Ser)
n.200T>C
c.506T>C (p.Leu169Ser)
c.448-2548T>C (n.448-2548T>C)
1g.77926768T>GCA340873800NEXNc.740T>G (p.Leu247Trp)
c.548T>G (p.Leu183Trp)
c.439T>G
c.698T>G (p.Leu233Trp)
n.200T>G
c.506T>G (p.Leu169Trp)
c.448-2548T>G (n.448-2548T>G)
1g.77926769G>ACA418709279NEXNc.741G>A (p.Leu247=)
c.549G>A (p.Leu183=)
c.440G>A
c.699G>A (p.Leu233=)
n.201G>A
c.507G>A (p.Leu169=)
c.448-2547G>A (n.448-2547G>A)
1g.77926769G>CCA340873801NEXNc.741G>C (p.Leu247Phe)
c.549G>C (p.Leu183Phe)
c.440G>C
c.699G>C (p.Leu233Phe)
n.201G>C
c.507G>C (p.Leu169Phe)
c.448-2547G>C (n.448-2547G>C)
1g.77926769G>TCA340873802NEXNc.741G>T (p.Leu247Phe)
c.549G>T (p.Leu183Phe)
c.440G>T
c.699G>T (p.Leu233Phe)
n.201G>T
c.507G>T (p.Leu169Phe)
c.448-2547G>T (n.448-2547G>T)
1g.77926770A>CCA340873803NEXNc.742A>C (p.Lys248Gln)
c.550A>C (p.Lys184Gln)
c.441A>C
c.700A>C (p.Lys234Gln)
n.202A>C
c.508A>C (p.Lys170Gln)
c.448-2546A>C (n.448-2546A>C)
1g.77926770A>GCA340873805NEXNc.742A>G (p.Lys248Glu)
c.550A>G (p.Lys184Glu)
c.441A>G
c.700A>G (p.Lys234Glu)
n.202A>G
c.508A>G (p.Lys170Glu)
c.448-2546A>G (n.448-2546A>G)
1g.77926770A>TCA340873807NEXNc.742A>T (p.Lys248Ter)
c.550A>T (p.Lys184Ter)
c.441A>T
c.700A>T (p.Lys234Ter)
n.202A>T
c.508A>T (p.Lys170Ter)
c.448-2546A>T (n.448-2546A>T)
1g.77926771A>CCA340873809NEXNc.743A>C (p.Lys248Thr)
c.551A>C (p.Lys184Thr)
c.442A>C
c.701A>C (p.Lys234Thr)
n.203A>C
c.509A>C (p.Lys170Thr)
c.448-2545A>C (n.448-2545A>C)
1g.77926771A>GCA340873810NEXNc.743A>G (p.Lys248Arg)
c.551A>G (p.Lys184Arg)
c.442A>G
c.701A>G (p.Lys234Arg)
n.203A>G
c.509A>G (p.Lys170Arg)
c.448-2545A>G (n.448-2545A>G)
1g.77926771A>TCA340873808NEXNc.743A>T (p.Lys248Ile)
c.551A>T (p.Lys184Ile)
c.442A>T
c.701A>T (p.Lys234Ile)
n.203A>T
c.509A>T (p.Lys170Ile)
c.448-2545A>T (n.448-2545A>T)
1g.77926772A>CCA340873811NEXNc.744A>C (p.Lys248Asn)
c.552A>C (p.Lys184Asn)
c.443A>C
c.702A>C (p.Lys234Asn)
n.204A>C
c.510A>C (p.Lys170Asn)
c.448-2544A>C (n.448-2544A>C)
1g.77926772A>GCA418709280NEXNc.744A>G (p.Lys248=)
c.552A>G (p.Lys184=)
c.443A>G
c.702A>G (p.Lys234=)
n.204A>G
c.510A>G (p.Lys170=)
c.448-2544A>G (n.448-2544A>G)
1g.77926772A>TCA340873812NEXNc.744A>T (p.Lys248Asn)
c.552A>T (p.Lys184Asn)
c.443A>T
c.702A>T (p.Lys234Asn)
n.204A>T
c.510A>T (p.Lys170Asn)
c.448-2544A>T (n.448-2544A>T)
1g.77926773C>ACA340873815NEXNc.745C>A (p.Leu249Ile)
c.553C>A (p.Leu185Ile)
c.444C>A
c.703C>A (p.Leu235Ile)
n.205C>A
c.511C>A (p.Leu171Ile)
c.448-2543C>A (n.448-2543C>A)
1g.77926773C>GCA340873834NEXNc.745C>G (p.Leu249Val)
c.553C>G (p.Leu185Val)
c.444C>G
c.703C>G (p.Leu235Val)
n.205C>G
c.511C>G (p.Leu171Val)
c.448-2543C>G (n.448-2543C>G)
1g.77926773C>TCA418709281NEXNc.745C>T (p.Leu249=)
c.553C>T (p.Leu185=)
c.444C>T
c.703C>T (p.Leu235=)
n.205C>T
c.511C>T (p.Leu171=)
c.448-2543C>T (n.448-2543C>T)
1g.77926774T>ACA340873840NEXNc.746T>A (p.Leu249Gln)
c.554T>A (p.Leu185Gln)
c.445T>A
c.704T>A (p.Leu235Gln)
n.206T>A
c.512T>A (p.Leu171Gln)
c.448-2542T>A (n.448-2542T>A)
1g.77926774T>CCA340873843NEXNc.746T>C (p.Leu249Pro)
c.554T>C (p.Leu185Pro)
c.445T>C
c.704T>C (p.Leu235Pro)
n.206T>C
c.512T>C (p.Leu171Pro)
c.448-2542T>C (n.448-2542T>C)
1g.77926774T>GCA340873847NEXNc.746T>G (p.Leu249Arg)
c.554T>G (p.Leu185Arg)
c.445T>G
c.704T>G (p.Leu235Arg)
n.206T>G
c.512T>G (p.Leu171Arg)
c.448-2542T>G (n.448-2542T>G)
1g.77926775A=CA1177623806NEXNc.747A= (p.Leu249=)
c.555A= (p.Leu185=)
c.446A=
c.705A= (p.Leu235=)
n.207A=
c.513A= (p.Leu171=)
c.448-2541A= (n.448-2541A=)
1g.77926775A>CCA418709283NEXNc.747A>C (p.Leu249=)
c.555A>C (p.Leu185=)
c.446A>C
c.705A>C (p.Leu235=)
n.207A>C
c.513A>C (p.Leu171=)
c.448-2541A>C (n.448-2541A>C)
1g.77926775A>GCA918725NEXNc.747A>G (p.Leu249=)
c.555A>G (p.Leu185=)
c.446A>G
c.705A>G (p.Leu235=)
n.207A>G
c.513A>G (p.Leu171=)
c.448-2541A>G (n.448-2541A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77926775A>TCA418709282NEXNc.747A>T (p.Leu249=)
c.555A>T (p.Leu185=)
c.446A>T
c.705A>T (p.Leu235=)
n.207A>T
c.513A>T (p.Leu171=)
c.448-2541A>T (n.448-2541A>T)
1g.77926776A>CCA340873852NEXNc.748A>C (p.Thr250Pro)
c.556A>C (p.Thr186Pro)
c.447A>C
c.706A>C (p.Thr236Pro)
n.208A>C
c.514A>C (p.Thr172Pro)
c.448-2540A>C (n.448-2540A>C)
1g.77926776A>GCA340873855NEXNc.748A>G (p.Thr250Ala)
c.556A>G (p.Thr186Ala)
c.447A>G
c.706A>G (p.Thr236Ala)
n.208A>G
c.514A>G (p.Thr172Ala)
c.448-2540A>G (n.448-2540A>G)
1g.77926776A>TCA340873858NEXNc.748A>T (p.Thr250Ser)
c.556A>T (p.Thr186Ser)
c.447A>T
c.706A>T (p.Thr236Ser)
n.208A>T
c.514A>T (p.Thr172Ser)
c.448-2540A>T (n.448-2540A>T)
1g.77926777C>ACA340873861NEXNc.749C>A (p.Thr250Asn)
c.557C>A (p.Thr186Asn)
c.448C>A
c.707C>A (p.Thr236Asn)
n.209C>A
c.515C>A (p.Thr172Asn)
c.448-2539C>A (n.448-2539C>A)
1g.77926777C=CA1177623807NEXNc.749C= (p.Thr250=)
c.557C= (p.Thr186=)
c.448C=
c.707C= (p.Thr236=)
n.209C=
c.515C= (p.Thr172=)
c.448-2539C= (n.448-2539C=)
1g.77926777C>GCA340873864NEXNc.749C>G (p.Thr250Ser)
c.557C>G (p.Thr186Ser)
c.448C>G
c.707C>G (p.Thr236Ser)
n.209C>G
c.515C>G (p.Thr172Ser)
c.448-2539C>G (n.448-2539C>G)
 ClinVar dbSNP gnomAD v4
1g.77926777C>TCA340873867NEXNc.749C>T (p.Thr250Ile)
c.557C>T (p.Thr186Ile)
c.448C>T
c.707C>T (p.Thr236Ile)
n.209C>T
c.515C>T (p.Thr172Ile)
c.448-2539C>T (n.448-2539C>T)
1g.77926777_77926779delinsCTTCA1177623808NEXNc.749_751delinsCTT (p.Thr250=)
c.557_559delinsCTT (p.Thr186=)
c.448_450delinsCTT
c.707_709delinsCTT (p.Thr236=)
n.209_211delinsCTT
c.515_517delinsCTT (p.Thr172=)
c.448-2539_448-2537delinsCTT (n.448-2539_448-2537delinsCTT)
1g.77926778T>ACA418709284NEXNc.750T>A (p.Thr250=)
c.558T>A (p.Thr186=)
c.449T>A
c.708T>A (p.Thr236=)
n.210T>A
c.516T>A (p.Thr172=)
c.448-2538T>A (n.448-2538T>A)
1g.77926778T>CCA418709285NEXNc.750T>C (p.Thr250=)
c.558T>C (p.Thr186=)
c.449T>C
c.708T>C (p.Thr236=)
n.210T>C
c.516T>C (p.Thr172=)
c.448-2538T>C (n.448-2538T>C)
1g.77926778T>GCA418709286NEXNc.750T>G (p.Thr250=)
c.558T>G (p.Thr186=)
c.449T>G
c.708T>G (p.Thr236=)
n.210T>G
c.516T>G (p.Thr172=)
c.448-2538T>G (n.448-2538T>G)
1g.77926780_77926781delCA739082882NEXNc.752_753del (p.Phe251Ter)
c.560_561del (p.Phe187Ter)
c.451_452del
c.710_711del (p.Phe237Ter)
n.212_213del
c.518_519del (p.Phe173Ter)
c.448-2536_448-2535del (n.448-2536_448-2535del)
 dbSNP
1g.77926779T>ACA340873873NEXNc.751T>A (p.Phe251Ile)
c.559T>A (p.Phe187Ile)
c.450T>A
c.709T>A (p.Phe237Ile)
n.211T>A
c.517T>A (p.Phe173Ile)
c.448-2537T>A (n.448-2537T>A)
1g.77926779T>CCA340873879NEXNc.751T>C (p.Phe251Leu)
c.559T>C (p.Phe187Leu)
c.450T>C
c.709T>C (p.Phe237Leu)
n.211T>C
c.517T>C (p.Phe173Leu)
c.448-2537T>C (n.448-2537T>C)
1g.77926779T>GCA340873884NEXNc.751T>G (p.Phe251Val)
c.559T>G (p.Phe187Val)
c.450T>G
c.709T>G (p.Phe237Val)
n.211T>G
c.517T>G (p.Phe173Val)
c.448-2537T>G (n.448-2537T>G)
 gnomAD v4
1g.77926780T>ACA340873887NEXNc.752T>A (p.Phe251Tyr)
c.560T>A (p.Phe187Tyr)
c.451T>A
c.710T>A (p.Phe237Tyr)
n.212T>A
c.518T>A (p.Phe173Tyr)
c.448-2536T>A (n.448-2536T>A)
1g.77926780T>CCA340873896NEXNc.752T>C (p.Phe251Ser)
c.560T>C (p.Phe187Ser)
c.451T>C
c.710T>C (p.Phe237Ser)
n.212T>C
c.518T>C (p.Phe173Ser)
c.448-2536T>C (n.448-2536T>C)
1g.77926780T>GCA24678731NEXNc.752T>G (p.Phe251Cys)
c.560T>G (p.Phe187Cys)
c.451T>G
c.710T>G (p.Phe237Cys)
n.212T>G
c.518T>G (p.Phe173Cys)
c.448-2536T>G (n.448-2536T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77926780T=CA1146302812NEXNc.752T= (p.Phe251=)
c.560T= (p.Phe187=)
c.451T=
c.710T= (p.Phe237=)
n.212T=
c.518T= (p.Phe173=)
c.448-2536T= (n.448-2536T=)
1g.77926781T>ACA340873913NEXNc.753T>A (p.Phe251Leu)
c.561T>A (p.Phe187Leu)
c.452T>A
c.711T>A (p.Phe237Leu)
n.213T>A
c.519T>A (p.Phe173Leu)
c.448-2535T>A (n.448-2535T>A)
1g.77926781T>CCA418709287NEXNc.753T>C (p.Phe251=)
c.561T>C (p.Phe187=)
c.452T>C
c.711T>C (p.Phe237=)
n.213T>C
c.519T>C (p.Phe173=)
c.448-2535T>C (n.448-2535T>C)
1g.77926781T>GCA918726NEXNc.753T>G (p.Phe251Leu)
c.561T>G (p.Phe187Leu)
c.452T>G
c.711T>G (p.Phe237Leu)
n.213T>G
c.519T>G (p.Phe173Leu)
c.448-2535T>G (n.448-2535T>G)
 dbSNP ExAC gnomAD v2
1g.77926781T=CA1177623809NEXNc.753T= (p.Phe251=)
c.561T= (p.Phe187=)
c.452T=
c.711T= (p.Phe237=)
n.213T=
c.519T= (p.Phe173=)
c.448-2535T= (n.448-2535T=)
1g.77926782G>ACA340873922NEXNc.754G>A (p.Glu252Lys)
c.562G>A (p.Glu188Lys)
c.453G>A
c.712G>A (p.Glu238Lys)
n.214G>A
c.520G>A (p.Glu174Lys)
c.448-2534G>A (n.448-2534G>A)
1g.77926782G>CCA340873924NEXNc.754G>C (p.Glu252Gln)
c.562G>C (p.Glu188Gln)
c.453G>C
c.712G>C (p.Glu238Gln)
n.214G>C
c.520G>C (p.Glu174Gln)
c.448-2534G>C (n.448-2534G>C)
1g.77926782G>TCA340873934NEXNc.754G>T (p.Glu252Ter)
c.562G>T (p.Glu188Ter)
c.453G>T
c.712G>T (p.Glu238Ter)
n.214G>T
c.520G>T (p.Glu174Ter)
c.448-2534G>T (n.448-2534G>T)
1g.77926783A>CCA340873938NEXNc.755A>C (p.Glu252Ala)
c.563A>C (p.Glu188Ala)
c.454A>C
c.713A>C (p.Glu238Ala)
n.215A>C
c.521A>C (p.Glu174Ala)
c.448-2533A>C (n.448-2533A>C)
1g.77926783A>GCA340873939NEXNc.755A>G (p.Glu252Gly)
c.563A>G (p.Glu188Gly)
c.454A>G
c.713A>G (p.Glu238Gly)
n.215A>G
c.521A>G (p.Glu174Gly)
c.448-2533A>G (n.448-2533A>G)
1g.77926783A>TCA340873940NEXNc.755A>T (p.Glu252Val)
c.563A>T (p.Glu188Val)
c.454A>T
c.713A>T (p.Glu238Val)
n.215A>T
c.521A>T (p.Glu174Val)
c.448-2533A>T (n.448-2533A>T)
1g.77926784A>CCA340873941NEXNc.756A>C (p.Glu252Asp)
c.564A>C (p.Glu188Asp)
c.455A>C
c.714A>C (p.Glu238Asp)
n.216A>C
c.522A>C (p.Glu174Asp)
c.448-2532A>C (n.448-2532A>C)
1g.77926784A>GCA418709288NEXNc.756A>G (p.Glu252=)
c.564A>G (p.Glu188=)
c.455A>G
c.714A>G (p.Glu238=)
n.216A>G
c.522A>G (p.Glu174=)
c.448-2532A>G (n.448-2532A>G)
1g.77926784A>TCA340873942NEXNc.756A>T (p.Glu252Asp)
c.564A>T (p.Glu188Asp)
c.455A>T
c.714A>T (p.Glu238Asp)
n.216A>T
c.522A>T (p.Glu174Asp)
c.448-2532A>T (n.448-2532A>T)
1g.77926785G>ACA340873945NEXNc.757G>A (p.Glu253Lys)
c.565G>A (p.Glu189Lys)
c.456G>A
c.715G>A (p.Glu239Lys)
n.217G>A
c.523G>A (p.Glu175Lys)
c.448-2531G>A (n.448-2531G>A)
1g.77926785G>CCA340873944NEXNc.757G>C (p.Glu253Gln)
c.565G>C (p.Glu189Gln)
c.456G>C
c.715G>C (p.Glu239Gln)
n.217G>C
c.523G>C (p.Glu175Gln)
c.448-2531G>C (n.448-2531G>C)
1g.77926785G>TCA340873943NEXNc.757G>T (p.Glu253Ter)
c.565G>T (p.Glu189Ter)
c.456G>T
c.715G>T (p.Glu239Ter)
n.217G>T
c.523G>T (p.Glu175Ter)
c.448-2531G>T (n.448-2531G>T)
1g.77926786A>CCA340873948NEXNc.758A>C (p.Glu253Ala)
c.566A>C (p.Glu189Ala)
c.457A>C
c.716A>C (p.Glu239Ala)
n.218A>C
c.524A>C (p.Glu175Ala)
c.448-2530A>C (n.448-2530A>C)
1g.77926786A>GCA340873951NEXNc.758A>G (p.Glu253Gly)
c.566A>G (p.Glu189Gly)
c.457A>G
c.716A>G (p.Glu239Gly)
n.218A>G
c.524A>G (p.Glu175Gly)
c.448-2530A>G (n.448-2530A>G)
1g.77926786A>TCA340873953NEXNc.758A>T (p.Glu253Val)
c.566A>T (p.Glu189Val)
c.457A>T
c.716A>T (p.Glu239Val)
n.218A>T
c.524A>T (p.Glu175Val)
c.448-2530A>T (n.448-2530A>T)
1g.77926787A>CCA340873962NEXNc.759A>C (p.Glu253Asp)
c.567A>C (p.Glu189Asp)
c.458A>C
c.717A>C (p.Glu239Asp)
n.219A>C
c.525A>C (p.Glu175Asp)
c.448-2529A>C (n.448-2529A>C)
1g.77926787A>GCA418709289NEXNc.759A>G (p.Glu253=)
c.567A>G (p.Glu189=)
c.458A>G
c.717A>G (p.Glu239=)
n.219A>G
c.525A>G (p.Glu175=)
c.448-2529A>G (n.448-2529A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.77926787A>TCA340873964NEXNc.759A>T (p.Glu253Asp)
c.567A>T (p.Glu189Asp)
c.458A>T
c.717A>T (p.Glu239Asp)
n.219A>T
c.525A>T (p.Glu175Asp)
c.448-2529A>T (n.448-2529A>T)
1g.77926788C>ACA340873972NEXNc.760C>A (p.Leu254Met)
c.568C>A (p.Leu190Met)
c.459C>A
c.718C>A (p.Leu240Met)
n.220C>A
c.526C>A (p.Leu176Met)
c.448-2528C>A (n.448-2528C>A)
1g.77926788C>GCA340873978NEXNc.760C>G (p.Leu254Val)
c.568C>G (p.Leu190Val)
c.459C>G
c.718C>G (p.Leu240Val)
n.220C>G
c.526C>G (p.Leu176Val)
c.448-2528C>G (n.448-2528C>G)
1g.77926788C>TCA418709290NEXNc.760C>T (p.Leu254=)
c.568C>T (p.Leu190=)
c.459C>T
c.718C>T (p.Leu240=)
n.220C>T
c.526C>T (p.Leu176=)
c.448-2528C>T (n.448-2528C>T)
1g.77926789T>ACA340873982NEXNc.761T>A (p.Leu254Gln)
c.569T>A (p.Leu190Gln)
c.460T>A
c.719T>A (p.Leu240Gln)
n.221T>A
c.527T>A (p.Leu176Gln)
c.448-2527T>A (n.448-2527T>A)
1g.77926789T>CCA340873984NEXNc.761T>C (p.Leu254Pro)
c.569T>C (p.Leu190Pro)
c.460T>C
c.719T>C (p.Leu240Pro)
n.221T>C
c.527T>C (p.Leu176Pro)
c.448-2527T>C (n.448-2527T>C)
 ClinVar COSMIC
1g.77926789T>GCA340873983NEXNc.761T>G (p.Leu254Arg)
c.569T>G (p.Leu190Arg)
c.460T>G
c.719T>G (p.Leu240Arg)
n.221T>G
c.527T>G (p.Leu176Arg)
c.448-2527T>G (n.448-2527T>G)
1g.77926790G>ACA918727NEXNc.762G>A (p.Leu254=)
c.570G>A (p.Leu190=)
c.461G>A
c.720G>A (p.Leu240=)
n.222G>A
c.528G>A (p.Leu176=)
c.448-2526G>A (n.448-2526G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.77926790G>CCA418709291NEXNc.762G>C (p.Leu254=)
c.570G>C (p.Leu190=)
c.461G>C
c.720G>C (p.Leu240=)
n.222G>C
c.528G>C (p.Leu176=)
c.448-2526G>C (n.448-2526G>C)
1g.77926790G=CA1177623810NEXNc.762G= (p.Leu254=)
c.570G= (p.Leu190=)
c.461G=
c.720G= (p.Leu240=)
n.222G=
c.528G= (p.Leu176=)
c.448-2526G= (n.448-2526G=)
1g.77926790G>TCA418709292NEXNc.762G>T (p.Leu254=)
c.570G>T (p.Leu190=)
c.461G>T
c.720G>T (p.Leu240=)
n.222G>T
c.528G>T (p.Leu176=)
c.448-2526G>T (n.448-2526G>T)
1g.77926791G>ACA340873985NEXNc.763G>A (p.Glu255Lys)
c.571G>A (p.Glu191Lys)
c.462G>A
c.721G>A (p.Glu241Lys)
n.223G>A
c.529G>A (p.Glu177Lys)
c.448-2525G>A (n.448-2525G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77926791G>CCA340873986NEXNc.763G>C (p.Glu255Gln)
c.571G>C (p.Glu191Gln)
c.462G>C
c.721G>C (p.Glu241Gln)
n.223G>C
c.529G>C (p.Glu177Gln)
c.448-2525G>C (n.448-2525G>C)
1g.77926791G=CA1177623811NEXNc.763G= (p.Glu255=)
c.571G= (p.Glu191=)
c.462G=
c.721G= (p.Glu241=)
n.223G=
c.529G= (p.Glu177=)
c.448-2525G= (n.448-2525G=)
1g.77926791G>TCA340873988NEXNc.763G>T (p.Glu255Ter)
c.571G>T (p.Glu191Ter)
c.462G>T
c.721G>T (p.Glu241Ter)
n.223G>T
c.529G>T (p.Glu177Ter)
c.448-2525G>T (n.448-2525G>T)
1g.77926792A>CCA340873991NEXNc.764A>C (p.Glu255Ala)
c.572A>C (p.Glu191Ala)
c.463A>C
c.722A>C (p.Glu241Ala)
n.224A>C
c.530A>C (p.Glu177Ala)
c.448-2524A>C (n.448-2524A>C)
1g.77926792A>GCA340874000NEXNc.764A>G (p.Glu255Gly)
c.572A>G (p.Glu191Gly)
c.463A>G
c.722A>G (p.Glu241Gly)
n.224A>G
c.530A>G (p.Glu177Gly)
c.448-2524A>G (n.448-2524A>G)
1g.77926792A>TCA340873993NEXNc.764A>T (p.Glu255Val)
c.572A>T (p.Glu191Val)
c.463A>T
c.722A>T (p.Glu241Val)
n.224A>T
c.530A>T (p.Glu177Val)
c.448-2524A>T (n.448-2524A>T)
1g.77926793G>ACA418709293NEXNc.765G>A (p.Glu255=)
c.573G>A (p.Glu191=)
c.464G>A
c.723G>A (p.Glu241=)
n.225G>A
c.531G>A (p.Glu177=)
c.448-2523G>A (n.448-2523G>A)
1g.77926793G>CCA340874004NEXNc.765G>C (p.Glu255Asp)
c.573G>C (p.Glu191Asp)
c.464G>C
c.723G>C (p.Glu241Asp)
n.225G>C
c.531G>C (p.Glu177Asp)
c.448-2523G>C (n.448-2523G>C)
1g.77926793G>TCA340874005NEXNc.765G>T (p.Glu255Asp)
c.573G>T (p.Glu191Asp)
c.464G>T
c.723G>T (p.Glu241Asp)
n.225G>T
c.531G>T (p.Glu177Asp)
c.448-2523G>T (n.448-2523G>T)
1g.77926794C>ACA418709294NEXNc.766C>A (p.Arg256=)
c.574C>A (p.Arg192=)
c.465C>A
c.724C>A (p.Arg242=)
n.226C>A
c.532C>A (p.Arg178=)
c.448-2522C>A (n.448-2522C>A)
 gnomAD v4
1g.77926794C=CA1177623812NEXNc.766C= (p.Arg256=)
c.574C= (p.Arg192=)
c.465C=
c.724C= (p.Arg242=)
n.226C=
c.532C= (p.Arg178=)
c.448-2522C= (n.448-2522C=)
1g.77926794C>GCA340874009NEXNc.766C>G (p.Arg256Gly)
c.574C>G (p.Arg192Gly)
c.465C>G
c.724C>G (p.Arg242Gly)
n.226C>G
c.532C>G (p.Arg178Gly)
c.448-2522C>G (n.448-2522C>G)
1g.77926794C>TCA340874012NEXNc.766C>T (p.Arg256Ter)
c.574C>T (p.Arg192Ter)
c.465C>T
c.724C>T (p.Arg242Ter)
n.226C>T
c.532C>T (p.Arg178Ter)
c.448-2522C>T (n.448-2522C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77926795G>ACA918728NEXNc.767G>A (p.Arg256Gln)
c.575G>A (p.Arg192Gln)
c.466G>A
c.725G>A (p.Arg242Gln)
n.227G>A
c.533G>A (p.Arg178Gln)
c.448-2521G>A (n.448-2521G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77926795G>CCA340874019NEXNc.767G>C (p.Arg256Pro)
c.575G>C (p.Arg192Pro)
c.466G>C
c.725G>C (p.Arg242Pro)
n.227G>C
c.533G>C (p.Arg178Pro)
c.448-2521G>C (n.448-2521G>C)
1g.77926795G=CA1149051776NEXNc.767G= (p.Arg256=)
c.575G= (p.Arg192=)
c.466G=
c.725G= (p.Arg242=)
n.227G=
c.533G= (p.Arg178=)
c.448-2521G= (n.448-2521G=)
1g.77926795G>TCA340874023NEXNc.767G>T (p.Arg256Leu)
c.575G>T (p.Arg192Leu)
c.466G>T
c.725G>T (p.Arg242Leu)
n.227G>T
c.533G>T (p.Arg178Leu)
c.448-2521G>T (n.448-2521G>T)
1g.77926796A>CCA418709295NEXNc.768A>C (p.Arg256=)
c.576A>C (p.Arg192=)
c.467A>C
c.726A>C (p.Arg242=)
n.228A>C
c.534A>C (p.Arg178=)
c.448-2520A>C (n.448-2520A>C)
1g.77926796A>GCA418709296NEXNc.768A>G (p.Arg256=)
c.576A>G (p.Arg192=)
c.467A>G
c.726A>G (p.Arg242=)
n.228A>G
c.534A>G (p.Arg178=)
c.448-2520A>G (n.448-2520A>G)
1g.77926796A>TCA418709297NEXNc.768A>T (p.Arg256=)
c.576A>T (p.Arg192=)
c.467A>T
c.726A>T (p.Arg242=)
n.228A>T
c.534A>T (p.Arg178=)
c.448-2520A>T (n.448-2520A>T)
1g.77926797C>ACA340874031NEXNc.769C>A (p.Gln257Lys)
c.577C>A (p.Gln193Lys)
c.468C>A
c.727C>A (p.Gln243Lys)
n.229C>A
c.535C>A (p.Gln179Lys)
c.448-2519C>A (n.448-2519C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77926797C=CA1177623813NEXNc.769C= (p.Gln257=)
c.577C= (p.Gln193=)
c.468C=
c.727C= (p.Gln243=)
n.229C=
c.535C= (p.Gln179=)
c.448-2519C= (n.448-2519C=)
1g.77926797C>GCA340874032NEXNc.769C>G (p.Gln257Glu)
c.577C>G (p.Gln193Glu)
c.468C>G
c.727C>G (p.Gln243Glu)
n.229C>G
c.535C>G (p.Gln179Glu)
c.448-2519C>G (n.448-2519C>G)
1g.77926797C>TCA340874045NEXNc.769C>T (p.Gln257Ter)
c.577C>T (p.Gln193Ter)
c.468C>T
c.727C>T (p.Gln243Ter)
n.229C>T
c.535C>T (p.Gln179Ter)
c.448-2519C>T (n.448-2519C>T)
 gnomAD v4
1g.77926798A>CCA340874055NEXNc.770A>C (p.Gln257Pro)
c.578A>C (p.Gln193Pro)
c.469A>C
c.728A>C (p.Gln243Pro)
n.230A>C
c.536A>C (p.Gln179Pro)
c.448-2518A>C (n.448-2518A>C)
1g.77926798A>GCA340874052NEXNc.770A>G (p.Gln257Arg)
c.578A>G (p.Gln193Arg)
c.469A>G
c.728A>G (p.Gln243Arg)
n.230A>G
c.536A>G (p.Gln179Arg)
c.448-2518A>G (n.448-2518A>G)
1g.77926798A>TCA340874049NEXNc.770A>T (p.Gln257Leu)
c.578A>T (p.Gln193Leu)
c.469A>T
c.728A>T (p.Gln243Leu)
n.230A>T
c.536A>T (p.Gln179Leu)
c.448-2518A>T (n.448-2518A>T)
1g.77926799A>CCA340874058NEXNc.771A>C (p.Gln257His)
c.579A>C (p.Gln193His)
c.470A>C
c.729A>C (p.Gln243His)
n.231A>C
c.537A>C (p.Gln179His)
c.448-2517A>C (n.448-2517A>C)
1g.77926799A>GCA418709298NEXNc.771A>G (p.Gln257=)
c.579A>G (p.Gln193=)
c.470A>G
c.729A>G (p.Gln243=)
n.231A>G
c.537A>G (p.Gln179=)
c.448-2517A>G (n.448-2517A>G)
1g.77926799A>TCA340874061NEXNc.771A>T (p.Gln257His)
c.579A>T (p.Gln193His)
c.470A>T
c.729A>T (p.Gln243His)
n.231A>T
c.537A>T (p.Gln179His)
c.448-2517A>T (n.448-2517A>T)
1g.77926800A=CA1177623814NEXNc.772A= (p.Arg258=)
c.580A= (p.Arg194=)
c.471A=
c.730A= (p.Arg244=)
n.232A=
c.538A= (p.Arg180=)
c.448-2516A= (n.448-2516A=)
1g.77926800A>CCA418709299NEXNc.772A>C (p.Arg258=)
c.580A>C (p.Arg194=)
c.471A>C
c.730A>C (p.Arg244=)
n.232A>C
c.538A>C (p.Arg180=)
c.448-2516A>C (n.448-2516A>C)
1g.77926800A>GCA340874065NEXNc.772A>G (p.Arg258Gly)
c.580A>G (p.Arg194Gly)
c.471A>G
c.730A>G (p.Arg244Gly)
n.232A>G
c.538A>G (p.Arg180Gly)
c.448-2516A>G (n.448-2516A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77926800A>TCA340874070NEXNc.772A>T (p.Arg258Ter)
c.580A>T (p.Arg194Ter)
c.471A>T
c.730A>T (p.Arg244Ter)
n.232A>T
c.538A>T (p.Arg180Ter)
c.448-2516A>T (n.448-2516A>T)
1g.77926801G>ACA340874072NEXNc.773G>A (p.Arg258Lys)
c.581G>A (p.Arg194Lys)
c.472G>A
c.731G>A (p.Arg244Lys)
n.233G>A
c.539G>A (p.Arg180Lys)
c.448-2515G>A (n.448-2515G>A)
1g.77926801G>CCA340874073NEXNc.773G>C (p.Arg258Thr)
c.581G>C (p.Arg194Thr)
c.472G>C
c.731G>C (p.Arg244Thr)
n.233G>C
c.539G>C (p.Arg180Thr)
c.448-2515G>C (n.448-2515G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.77926801G=CA1177623815NEXNc.773G= (p.Arg258=)
c.581G= (p.Arg194=)
c.472G=
c.731G= (p.Arg244=)
n.233G=
c.539G= (p.Arg180=)
c.448-2515G= (n.448-2515G=)
1g.77926801G>TCA340874076NEXNc.773G>T (p.Arg258Ile)
c.581G>T (p.Arg194Ile)
c.472G>T
c.731G>T (p.Arg244Ile)
n.233G>T
c.539G>T (p.Arg180Ile)
c.448-2515G>T (n.448-2515G>T)
1g.77926802A=CA1177623816NEXNc.774A= (p.Arg258=)
c.582A= (p.Arg194=)
c.473A=
c.732A= (p.Arg244=)
n.234A=
c.540A= (p.Arg180=)
c.448-2514A= (n.448-2514A=)
1g.77926802A>CCA340874078NEXNc.774A>C (p.Arg258Ser)
c.582A>C (p.Arg194Ser)
c.473A>C
c.732A>C (p.Arg244Ser)
n.234A>C
c.540A>C (p.Arg180Ser)
c.448-2514A>C (n.448-2514A>C)
 ClinVar dbSNP
1g.77926802A>GCA418709300NEXNc.774A>G (p.Arg258=)
c.582A>G (p.Arg194=)
c.473A>G
c.732A>G (p.Arg244=)
n.234A>G
c.540A>G (p.Arg180=)
c.448-2514A>G (n.448-2514A>G)
 dbSNP
1g.77926802A>TCA340874077NEXNc.774A>T (p.Arg258Ser)
c.582A>T (p.Arg194Ser)
c.473A>T
c.732A>T (p.Arg244Ser)
n.234A>T
c.540A>T (p.Arg180Ser)
c.448-2514A>T (n.448-2514A>T)
1g.77926803_77926809delCA2646304755NEXNc.775_781del (p.Gln259ThrfsTer14)
c.583_589del (p.Gln195ThrfsTer14)
c.474_480del
c.733_739del (p.Gln245ThrfsTer14)
n.235_241del
c.541_547del (p.Gln181ThrfsTer14)
c.448-2513_448-2507del (n.448-2513_448-2507del)
 gnomAD v4
1g.77926803C>ACA340874082NEXNc.775C>A (p.Gln259Lys)
c.583C>A (p.Gln195Lys)
c.474C>A
c.733C>A (p.Gln245Lys)
n.235C>A
c.541C>A (p.Gln181Lys)
c.448-2513C>A (n.448-2513C>A)
1g.77926803C>GCA340874094NEXNc.775C>G (p.Gln259Glu)
c.583C>G (p.Gln195Glu)
c.474C>G
c.733C>G (p.Gln245Glu)
n.235C>G
c.541C>G (p.Gln181Glu)
c.448-2513C>G (n.448-2513C>G)
1g.77926803C>TCA340874096NEXNc.775C>T (p.Gln259Ter)
c.583C>T (p.Gln195Ter)
c.474C>T
c.733C>T (p.Gln245Ter)
n.235C>T
c.541C>T (p.Gln181Ter)
c.448-2513C>T (n.448-2513C>T)
1g.77926804A>CCA340874104NEXNc.776A>C (p.Gln259Pro)
c.584A>C (p.Gln195Pro)
c.475A>C
c.734A>C (p.Gln245Pro)
n.236A>C
c.542A>C (p.Gln181Pro)
c.448-2512A>C (n.448-2512A>C)
1g.77926804A>GCA340874105NEXNc.776A>G (p.Gln259Arg)
c.584A>G (p.Gln195Arg)
c.475A>G
c.734A>G (p.Gln245Arg)
n.236A>G
c.542A>G (p.Gln181Arg)
c.448-2512A>G (n.448-2512A>G)
1g.77926804A>TCA340874108NEXNc.776A>T (p.Gln259Leu)
c.584A>T (p.Gln195Leu)
c.475A>T
c.734A>T (p.Gln245Leu)
n.236A>T
c.542A>T (p.Gln181Leu)
c.448-2512A>T (n.448-2512A>T)
1g.77926805A=CA1144067633NEXNc.777A= (p.Gln259=)
c.585A= (p.Gln195=)
c.476A=
c.735A= (p.Gln245=)
n.237A=
c.543A= (p.Gln181=)
c.448-2511A= (n.448-2511A=)
1g.77926805A>CCA340874115NEXNc.777A>C (p.Gln259His)
c.585A>C (p.Gln195His)
c.476A>C
c.735A>C (p.Gln245His)
n.237A>C
c.543A>C (p.Gln181His)
c.448-2511A>C (n.448-2511A>C)
1g.77926805A>GCA142171NEXNc.777A>G (p.Gln259=)
c.585A>G (p.Gln195=)
c.476A>G
c.735A>G (p.Gln245=)
n.237A>G
c.543A>G (p.Gln181=)
c.448-2511A>G (n.448-2511A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926805A>TCA340874119NEXNc.777A>T (p.Gln259His)
c.585A>T (p.Gln195His)
c.476A>T
c.735A>T (p.Gln245His)
n.237A>T
c.543A>T (p.Gln181His)
c.448-2511A>T (n.448-2511A>T)
1g.77926806G>ACA340874123NEXNc.778G>A (p.Glu260Lys)
c.586G>A (p.Glu196Lys)
c.477G>A
c.736G>A (p.Glu246Lys)
n.238G>A
c.544G>A (p.Glu182Lys)
c.448-2510G>A (n.448-2510G>A)
1g.77926806G>CCA340874125NEXNc.778G>C (p.Glu260Gln)
c.586G>C (p.Glu196Gln)
c.477G>C
c.736G>C (p.Glu246Gln)
n.238G>C
c.544G>C (p.Glu182Gln)
c.448-2510G>C (n.448-2510G>C)
 dbSNP
1g.77926806G=CA1177623817NEXNc.778G= (p.Glu260=)
c.586G= (p.Glu196=)
c.477G=
c.736G= (p.Glu246=)
n.238G=
c.544G= (p.Glu182=)
c.448-2510G= (n.448-2510G=)
1g.77926806G>TCA340874128NEXNc.778G>T (p.Glu260Ter)
c.586G>T (p.Glu196Ter)
c.477G>T
c.736G>T (p.Glu246Ter)
n.238G>T
c.544G>T (p.Glu182Ter)
c.448-2510G>T (n.448-2510G>T)
1g.77926807A>CCA340874132NEXNc.779A>C (p.Glu260Ala)
c.587A>C (p.Glu196Ala)
c.478A>C
c.737A>C (p.Glu246Ala)
n.239A>C
c.545A>C (p.Glu182Ala)
c.448-2509A>C (n.448-2509A>C)
1g.77926807A>GCA340874139NEXNc.779A>G (p.Glu260Gly)
c.587A>G (p.Glu196Gly)
c.478A>G
c.737A>G (p.Glu246Gly)
n.239A>G
c.545A>G (p.Glu182Gly)
c.448-2509A>G (n.448-2509A>G)
1g.77926807A>TCA340874142NEXNc.779A>T (p.Glu260Val)
c.587A>T (p.Glu196Val)
c.478A>T
c.737A>T (p.Glu246Val)
n.239A>T
c.545A>T (p.Glu182Val)
c.448-2509A>T (n.448-2509A>T)
1g.77926810dupCA918729NEXNc.782dup (p.Asn261LysfsTer7)
c.590dup (p.Asn197LysfsTer7)
c.481dup
c.740dup (p.Asn247LysfsTer7)
n.242dup
c.548dup (p.Asn183LysfsTer7)
c.448-2506dup (n.448-2506dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77926808A>CCA340874147NEXNc.780A>C (p.Glu260Asp)
c.588A>C (p.Glu196Asp)
c.479A>C
c.738A>C (p.Glu246Asp)
n.240A>C
c.546A>C (p.Glu182Asp)
c.448-2508A>C (n.448-2508A>C)
1g.77926808A>GCA418709301NEXNc.780A>G (p.Glu260=)
c.588A>G (p.Glu196=)
c.479A>G
c.738A>G (p.Glu246=)
n.240A>G
c.546A>G (p.Glu182=)
c.448-2508A>G (n.448-2508A>G)
1g.77926808A>TCA340874152NEXNc.780A>T (p.Glu260Asp)
c.588A>T (p.Glu196Asp)
c.479A>T
c.738A>T (p.Glu246Asp)
n.240A>T
c.546A>T (p.Glu182Asp)
c.448-2508A>T (n.448-2508A>T)
1g.77926809A>CCA340874154NEXNc.781A>C (p.Asn261His)
c.589A>C (p.Asn197His)
c.480A>C
c.739A>C (p.Asn247His)
n.241A>C
c.547A>C (p.Asn183His)
c.448-2507A>C (n.448-2507A>C)
1g.77926809A>GCA340874157NEXNc.781A>G (p.Asn261Asp)
c.589A>G (p.Asn197Asp)
c.480A>G
c.739A>G (p.Asn247Asp)
n.241A>G
c.547A>G (p.Asn183Asp)
c.448-2507A>G (n.448-2507A>G)
1g.77926809A>TCA340874160NEXNc.781A>T (p.Asn261Tyr)
c.589A>T (p.Asn197Tyr)
c.480A>T
c.739A>T (p.Asn247Tyr)
n.241A>T
c.547A>T (p.Asn183Tyr)
c.448-2507A>T (n.448-2507A>T)
1g.77926810A>CCA340874164NEXNc.782A>C (p.Asn261Thr)
c.590A>C (p.Asn197Thr)
c.481A>C
c.740A>C (p.Asn247Thr)
n.242A>C
c.548A>C (p.Asn183Thr)
c.448-2506A>C (n.448-2506A>C)
1g.77926810A>GCA340874173NEXNc.782A>G (p.Asn261Ser)
c.590A>G (p.Asn197Ser)
c.481A>G
c.740A>G (p.Asn247Ser)
n.242A>G
c.548A>G (p.Asn183Ser)
c.448-2506A>G (n.448-2506A>G)
1g.77926810A>TCA340874167NEXNc.782A>T (p.Asn261Ile)
c.590A>T (p.Asn197Ile)
c.481A>T
c.740A>T (p.Asn247Ile)
n.242A>T
c.548A>T (p.Asn183Ile)
c.448-2506A>T (n.448-2506A>T)
1g.77926811C>ACA340874175NEXNc.783C>A (p.Asn261Lys)
c.591C>A (p.Asn197Lys)
c.482C>A
c.741C>A (p.Asn247Lys)
n.243C>A
c.549C>A (p.Asn183Lys)
c.448-2505C>A (n.448-2505C>A)
1g.77926811C=CA1143604195NEXNc.783C= (p.Asn261=)
c.591C= (p.Asn197=)
c.482C=
c.741C= (p.Asn247=)
n.243C=
c.549C= (p.Asn183=)
c.448-2505C= (n.448-2505C=)
1g.77926811C>GCA918730NEXNc.783C>G (p.Asn261Lys)
c.591C>G (p.Asn197Lys)
c.482C>G
c.741C>G (p.Asn247Lys)
n.243C>G
c.549C>G (p.Asn183Lys)
c.448-2505C>G (n.448-2505C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926811C>TCA418709302NEXNc.783C>T (p.Asn261=)
c.591C>T (p.Asn197=)
c.482C>T
c.741C>T (p.Asn247=)
n.243C>T
c.549C>T (p.Asn183=)
c.448-2505C>T (n.448-2505C>T)
 gnomAD v4
1g.77926812C>ACA418709303NEXNc.784C>A (p.Arg262=)
c.592C>A (p.Arg198=)
c.483C>A
c.742C>A (p.Arg248=)
n.244C>A
c.550C>A (p.Arg184=)
c.448-2504C>A (n.448-2504C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.77926812C=CA1177623818NEXNc.784C= (p.Arg262=)
c.592C= (p.Arg198=)
c.483C=
c.742C= (p.Arg248=)
n.244C=
c.550C= (p.Arg184=)
c.448-2504C= (n.448-2504C=)
1g.77926812C>GCA340874184NEXNc.784C>G (p.Arg262Gly)
c.592C>G (p.Arg198Gly)
c.483C>G
c.742C>G (p.Arg248Gly)
n.244C>G
c.550C>G (p.Arg184Gly)
c.448-2504C>G (n.448-2504C>G)
1g.77926812C>TCA24678790NEXNc.784C>T (p.Arg262Ter)
c.592C>T (p.Arg198Ter)
c.483C>T
c.742C>T (p.Arg248Ter)
n.244C>T
c.550C>T (p.Arg184Ter)
c.448-2504C>T (n.448-2504C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77926813G>ACA918732NEXNc.785G>A (p.Arg262Gln)
c.593G>A (p.Arg198Gln)
c.484G>A
c.743G>A (p.Arg248Gln)
n.245G>A
c.551G>A (p.Arg184Gln)
c.448-2503G>A (n.448-2503G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77926813G>CCA340874191NEXNc.785G>C (p.Arg262Pro)
c.593G>C (p.Arg198Pro)
c.484G>C
c.743G>C (p.Arg248Pro)
n.245G>C
c.551G>C (p.Arg184Pro)
c.448-2503G>C (n.448-2503G>C)
1g.77926813G=CA1143697067NEXNc.785G= (p.Arg262=)
c.593G= (p.Arg198=)
c.484G=
c.743G= (p.Arg248=)
n.245G=
c.551G= (p.Arg184=)
c.448-2503G= (n.448-2503G=)
1g.77926813G>TCA918731NEXNc.785G>T (p.Arg262Leu)
c.593G>T (p.Arg198Leu)
c.484G>T
c.743G>T (p.Arg248Leu)
n.245G>T
c.551G>T (p.Arg184Leu)
c.448-2503G>T (n.448-2503G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77926814A>CCA418709304NEXNc.786A>C (p.Arg262=)
c.594A>C (p.Arg198=)
c.485A>C
c.744A>C (p.Arg248=)
n.246A>C
c.552A>C (p.Arg184=)
c.448-2502A>C (n.448-2502A>C)
1g.77926814A>GCA418709305NEXNc.786A>G (p.Arg262=)
c.594A>G (p.Arg198=)
c.485A>G
c.744A>G (p.Arg248=)
n.246A>G
c.552A>G (p.Arg184=)
c.448-2502A>G (n.448-2502A>G)
1g.77926814A>TCA418709306NEXNc.786A>T (p.Arg262=)
c.594A>T (p.Arg198=)
c.485A>T
c.744A>T (p.Arg248=)
n.246A>T
c.552A>T (p.Arg184=)
c.448-2502A>T (n.448-2502A>T)
1g.77926815A>CCA340874195NEXNc.787A>C (p.Lys263Gln)
c.595A>C (p.Lys199Gln)
c.486A>C
c.745A>C (p.Lys249Gln)
n.247A>C
c.553A>C (p.Lys185Gln)
c.448-2501A>C (n.448-2501A>C)
1g.77926815A>GCA340874202NEXNc.787A>G (p.Lys263Glu)
c.595A>G (p.Lys199Glu)
c.486A>G
c.745A>G (p.Lys249Glu)
n.247A>G
c.553A>G (p.Lys185Glu)
c.448-2501A>G (n.448-2501A>G)
1g.77926815A>TCA340874205NEXNc.787A>T (p.Lys263Ter)
c.595A>T (p.Lys199Ter)
c.486A>T
c.745A>T (p.Lys249Ter)
n.247A>T
c.553A>T (p.Lys185Ter)
c.448-2501A>T (n.448-2501A>T)
1g.77926818_77926820delCA2646304756NEXNc.790_792del (p.Lys264del)
c.598_600del (p.Lys200del)
c.489_491del
c.748_750del (p.Lys250del)
n.250_252del
c.556_558del (p.Lys186del)
c.448-2498_448-2496del (n.448-2498_448-2496del)
 gnomAD v4
1g.77926816A>CCA340874208NEXNc.788A>C (p.Lys263Thr)
c.596A>C (p.Lys199Thr)
c.487A>C
c.746A>C (p.Lys249Thr)
n.248A>C
c.554A>C (p.Lys185Thr)
c.448-2500A>C (n.448-2500A>C)
1g.77926816A>GCA340874209NEXNc.788A>G (p.Lys263Arg)
c.596A>G (p.Lys199Arg)
c.487A>G
c.746A>G (p.Lys249Arg)
n.248A>G
c.554A>G (p.Lys185Arg)
c.448-2500A>G (n.448-2500A>G)
1g.77926816A>TCA340874215NEXNc.788A>T (p.Lys263Met)
c.596A>T (p.Lys199Met)
c.487A>T
c.746A>T (p.Lys249Met)
n.248A>T
c.554A>T (p.Lys185Met)
c.448-2500A>T (n.448-2500A>T)
1g.77926817G>ACA918733NEXNc.789G>A (p.Lys263=)
c.597G>A (p.Lys199=)
c.488G>A
c.747G>A (p.Lys249=)
n.249G>A
c.555G>A (p.Lys185=)
c.448-2499G>A (n.448-2499G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926817G>CCA340874227NEXNc.789G>C (p.Lys263Asn)
c.597G>C (p.Lys199Asn)
c.488G>C
c.747G>C (p.Lys249Asn)
n.249G>C
c.555G>C (p.Lys185Asn)
c.448-2499G>C (n.448-2499G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.77926817G=CA1177623819NEXNc.789G= (p.Lys263=)
c.597G= (p.Lys199=)
c.488G=
c.747G= (p.Lys249=)
n.249G=
c.555G= (p.Lys185=)
c.448-2499G= (n.448-2499G=)
1g.77926817G>TCA340874225NEXNc.789G>T (p.Lys263Asn)
c.597G>T (p.Lys199Asn)
c.488G>T
c.747G>T (p.Lys249Asn)
n.249G>T
c.555G>T (p.Lys185Asn)
c.448-2499G>T (n.448-2499G>T)
1g.77926818A=CA1177623820NEXNc.790A= (p.Lys264=)
c.598A= (p.Lys200=)
c.489A=
c.748A= (p.Lys250=)
n.250A=
c.556A= (p.Lys186=)
c.448-2498A= (n.448-2498A=)
1g.77926818A>CCA24678806NEXNc.790A>C (p.Lys264Gln)
c.598A>C (p.Lys200Gln)
c.489A>C
c.748A>C (p.Lys250Gln)
n.250A>C
c.556A>C (p.Lys186Gln)
c.448-2498A>C (n.448-2498A>C)
 ClinVar dbSNP gnomAD v4
1g.77926818A>GCA340874235NEXNc.790A>G (p.Lys264Glu)
c.598A>G (p.Lys200Glu)
c.489A>G
c.748A>G (p.Lys250Glu)
n.250A>G
c.556A>G (p.Lys186Glu)
c.448-2498A>G (n.448-2498A>G)
 gnomAD v4
1g.77926818A>TCA340874237NEXNc.790A>T (p.Lys264Ter)
c.598A>T (p.Lys200Ter)
c.489A>T
c.748A>T (p.Lys250Ter)
n.250A>T
c.556A>T (p.Lys186Ter)
c.448-2498A>T (n.448-2498A>T)
1g.77926822_77926825delCA2744231880NEXNc.794_797del (p.Gln265LeufsTer9)
c.602_605del (p.Gln201LeufsTer9)
c.493_496del
c.752_755del (p.Gln251LeufsTer9)
n.254_257del
c.560_563del (p.Gln187LeufsTer9)
c.448-2494_448-2491del (n.448-2494_448-2491del)
1g.77926819A>CCA340874240NEXNc.791A>C (p.Lys264Thr)
c.599A>C (p.Lys200Thr)
c.490A>C
c.749A>C (p.Lys250Thr)
n.251A>C
c.557A>C (p.Lys186Thr)
c.448-2497A>C (n.448-2497A>C)
1g.77926819A>GCA340874248NEXNc.791A>G (p.Lys264Arg)
c.599A>G (p.Lys200Arg)
c.490A>G
c.749A>G (p.Lys250Arg)
n.251A>G
c.557A>G (p.Lys186Arg)
c.448-2497A>G (n.448-2497A>G)
1g.77926819A>TCA340874251NEXNc.791A>T (p.Lys264Met)
c.599A>T (p.Lys200Met)
c.490A>T
c.749A>T (p.Lys250Met)
n.251A>T
c.557A>T (p.Lys186Met)
c.448-2497A>T (n.448-2497A>T)
1g.77926820G>ACA418709307NEXNc.792G>A (p.Lys264=)
c.600G>A (p.Lys200=)
c.491G>A
c.750G>A (p.Lys250=)
n.252G>A
c.558G>A (p.Lys186=)
c.448-2496G>A (n.448-2496G>A)
1g.77926820G>CCA340874253NEXNc.792G>C (p.Lys264Asn)
c.600G>C (p.Lys200Asn)
c.491G>C
c.750G>C (p.Lys250Asn)
n.252G>C
c.558G>C (p.Lys186Asn)
c.448-2496G>C (n.448-2496G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.77926820G=CA1177623821NEXNc.792G= (p.Lys264=)
c.600G= (p.Lys200=)
c.491G=
c.750G= (p.Lys250=)
n.252G=
c.558G= (p.Lys186=)
c.448-2496G= (n.448-2496G=)
1g.77926820G>TCA340874260NEXNc.792G>T (p.Lys264Asn)
c.600G>T (p.Lys200Asn)
c.491G>T
c.750G>T (p.Lys250Asn)
n.252G>T
c.558G>T (p.Lys186Asn)
c.448-2496G>T (n.448-2496G>T)
1g.77926821C>ACA918734NEXNc.793C>A (p.Gln265Lys)
c.601C>A (p.Gln201Lys)
c.492C>A
c.751C>A (p.Gln251Lys)
n.253C>A
c.559C>A (p.Gln187Lys)
c.448-2495C>A (n.448-2495C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926821C=CA1177623822NEXNc.793C= (p.Gln265=)
c.601C= (p.Gln201=)
c.492C=
c.751C= (p.Gln251=)
n.253C=
c.559C= (p.Gln187=)
c.448-2495C= (n.448-2495C=)
1g.77926821C>GCA340874267NEXNc.793C>G (p.Gln265Glu)
c.601C>G (p.Gln201Glu)
c.492C>G
c.751C>G (p.Gln251Glu)
n.253C>G
c.559C>G (p.Gln187Glu)
c.448-2495C>G (n.448-2495C>G)
1g.77926821C>TCA340874273NEXNc.793C>T (p.Gln265Ter)
c.601C>T (p.Gln201Ter)
c.492C>T
c.751C>T (p.Gln251Ter)
n.253C>T
c.559C>T (p.Gln187Ter)
c.448-2495C>T (n.448-2495C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.77926822A=CA1177623823NEXNc.794A= (p.Gln265=)
c.602A= (p.Gln201=)
c.493A=
c.752A= (p.Gln251=)
n.254A=
c.560A= (p.Gln187=)
c.448-2494A= (n.448-2494A=)
1g.77926822A>CCA340874277NEXNc.794A>C (p.Gln265Pro)
c.602A>C (p.Gln201Pro)
c.493A>C
c.752A>C (p.Gln251Pro)
n.254A>C
c.560A>C (p.Gln187Pro)
c.448-2494A>C (n.448-2494A>C)
 ClinVar dbSNP
1g.77926822A>GCA340874278NEXNc.794A>G (p.Gln265Arg)
c.602A>G (p.Gln201Arg)
c.493A>G
c.752A>G (p.Gln251Arg)
n.254A>G
c.560A>G (p.Gln187Arg)
c.448-2494A>G (n.448-2494A>G)
1g.77926822A>TCA340874276NEXNc.794A>T (p.Gln265Leu)
c.602A>T (p.Gln201Leu)
c.493A>T
c.752A>T (p.Gln251Leu)
n.254A>T
c.560A>T (p.Gln187Leu)
c.448-2494A>T (n.448-2494A>T)
1g.77926823A>CCA340874285NEXNc.795A>C (p.Gln265His)
c.603A>C (p.Gln201His)
c.494A>C
c.753A>C (p.Gln251His)
n.255A>C
c.561A>C (p.Gln187His)
c.448-2493A>C (n.448-2493A>C)
1g.77926823A>GCA418709308NEXNc.795A>G (p.Gln265=)
c.603A>G (p.Gln201=)
c.494A>G
c.753A>G (p.Gln251=)
n.255A>G
c.561A>G (p.Gln187=)
c.448-2493A>G (n.448-2493A>G)
1g.77926823A>TCA340874279NEXNc.795A>T (p.Gln265His)
c.603A>T (p.Gln201His)
c.494A>T
c.753A>T (p.Gln251His)
n.255A>T
c.561A>T (p.Gln187His)
c.448-2493A>T (n.448-2493A>T)
1g.77926824G>ACA340874294NEXNc.796G>A (p.Ala266Thr)
c.604G>A (p.Ala202Thr)
c.495G>A
c.754G>A (p.Ala252Thr)
n.256G>A
c.562G>A (p.Ala188Thr)
c.448-2492G>A (n.448-2492G>A)
1g.77926824G>CCA340874289NEXNc.796G>C (p.Ala266Pro)
c.604G>C (p.Ala202Pro)
c.495G>C
c.754G>C (p.Ala252Pro)
n.256G>C
c.562G>C (p.Ala188Pro)
c.448-2492G>C (n.448-2492G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.77926824G=CA1177623824NEXNc.796G= (p.Ala266=)
c.604G= (p.Ala202=)
c.495G=
c.754G= (p.Ala252=)
n.256G=
c.562G= (p.Ala188=)
c.448-2492G= (n.448-2492G=)
1g.77926824G>TCA340874292NEXNc.796G>T (p.Ala266Ser)
c.604G>T (p.Ala202Ser)
c.495G>T
c.754G>T (p.Ala252Ser)
n.256G>T
c.562G>T (p.Ala188Ser)
c.448-2492G>T (n.448-2492G>T)
1g.77926825C>ACA340874297NEXNc.797C>A (p.Ala266Asp)
c.605C>A (p.Ala202Asp)
c.496C>A
c.755C>A (p.Ala252Asp)
n.257C>A
c.563C>A (p.Ala188Asp)
c.448-2491C>A (n.448-2491C>A)
1g.77926825C=CA1177623825NEXNc.797C= (p.Ala266=)
c.605C= (p.Ala202=)
c.496C=
c.755C= (p.Ala252=)
n.257C=
c.563C= (p.Ala188=)
c.448-2491C= (n.448-2491C=)
1g.77926825C>GCA340874300NEXNc.797C>G (p.Ala266Gly)
c.605C>G (p.Ala202Gly)
c.496C>G
c.755C>G (p.Ala252Gly)
n.257C>G
c.563C>G (p.Ala188Gly)
c.448-2491C>G (n.448-2491C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77926825C>TCA340874303NEXNc.797C>T (p.Ala266Val)
c.605C>T (p.Ala202Val)
c.496C>T
c.755C>T (p.Ala252Val)
n.257C>T
c.563C>T (p.Ala188Val)
c.448-2491C>T (n.448-2491C>T)
1g.77926826delCA2740090534NEXNc.798del (p.Glu267LysfsTer8)
c.606del (p.Glu203LysfsTer8)
c.497del
c.756del (p.Glu253LysfsTer8)
n.258del
c.564del (p.Glu189LysfsTer8)
c.448-2490del (n.448-2490del)
 ClinVar
1g.77926826T>ACA418709309NEXNc.798T>A (p.Ala266=)
c.606T>A (p.Ala202=)
c.497T>A
c.756T>A (p.Ala252=)
n.258T>A
c.564T>A (p.Ala188=)
c.448-2490T>A (n.448-2490T>A)
 COSMIC COSMIC
1g.77926826T>CCA418709310NEXNc.798T>C (p.Ala266=)
c.606T>C (p.Ala202=)
c.497T>C
c.756T>C (p.Ala252=)
n.258T>C
c.564T>C (p.Ala188=)
c.448-2490T>C (n.448-2490T>C)
1g.77926826T>GCA418709311NEXNc.798T>G (p.Ala266=)
c.606T>G (p.Ala202=)
c.497T>G
c.756T>G (p.Ala252=)
n.258T>G
c.564T>G (p.Ala188=)
c.448-2490T>G (n.448-2490T>G)
1g.77926827G>ACA340874306NEXNc.799G>A (p.Glu267Lys)
c.607G>A (p.Glu203Lys)
c.498G>A
c.757G>A (p.Glu253Lys)
n.259G>A
c.565G>A (p.Glu189Lys)
c.448-2489G>A (n.448-2489G>A)
1g.77926827G>CCA340874310NEXNc.799G>C (p.Glu267Gln)
c.607G>C (p.Glu203Gln)
c.498G>C
c.757G>C (p.Glu253Gln)
n.259G>C
c.565G>C (p.Glu189Gln)
c.448-2489G>C (n.448-2489G>C)
1g.77926827G=CA1177623826NEXNc.799G= (p.Glu267=)
c.607G= (p.Glu203=)
c.498G=
c.757G= (p.Glu253=)
n.259G=
c.565G= (p.Glu189=)
c.448-2489G= (n.448-2489G=)
1g.77926827G>TCA918735NEXNc.799G>T (p.Glu267Ter)
c.607G>T (p.Glu203Ter)
c.498G>T
c.757G>T (p.Glu253Ter)
n.259G>T
c.565G>T (p.Glu189Ter)
c.448-2489G>T (n.448-2489G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926828A>CCA340874312NEXNc.800A>C (p.Glu267Ala)
c.608A>C (p.Glu203Ala)
c.499A>C
c.758A>C (p.Glu253Ala)
n.260A>C
c.566A>C (p.Glu189Ala)
c.448-2488A>C (n.448-2488A>C)
1g.77926828A>GCA340874316NEXNc.800A>G (p.Glu267Gly)
c.608A>G (p.Glu203Gly)
c.499A>G
c.758A>G (p.Glu253Gly)
n.260A>G
c.566A>G (p.Glu189Gly)
c.448-2488A>G (n.448-2488A>G)
1g.77926828A>TCA340874319NEXNc.800A>T (p.Glu267Val)
c.608A>T (p.Glu203Val)
c.499A>T
c.758A>T (p.Glu253Val)
n.260A>T
c.566A>T (p.Glu189Val)
c.448-2488A>T (n.448-2488A>T)
1g.77926829A>CCA340874320NEXNc.801A>C (p.Glu267Asp)
c.609A>C (p.Glu203Asp)
c.500A>C
c.759A>C (p.Glu253Asp)
n.261A>C
c.567A>C (p.Glu189Asp)
c.448-2487A>C (n.448-2487A>C)
 gnomAD v4
1g.77926829A>GCA418709312NEXNc.801A>G (p.Glu267=)
c.609A>G (p.Glu203=)
c.500A>G
c.759A>G (p.Glu253=)
n.261A>G
c.567A>G (p.Glu189=)
c.448-2487A>G (n.448-2487A>G)
1g.77926829A>TCA340874321NEXNc.801A>T (p.Glu267Asp)
c.609A>T (p.Glu203Asp)
c.500A>T
c.759A>T (p.Glu253Asp)
n.261A>T
c.567A>T (p.Glu189Asp)
c.448-2487A>T (n.448-2487A>T)
1g.77926830G>ACA340874324NEXNc.802G>A (p.Glu268Lys)
c.610G>A (p.Glu204Lys)
c.501G>A
c.760G>A (p.Glu254Lys)
n.262G>A
c.568G>A (p.Glu190Lys)
c.448-2486G>A (n.448-2486G>A)
1g.77926830G>CCA340874323NEXNc.802G>C (p.Glu268Gln)
c.610G>C (p.Glu204Gln)
c.501G>C
c.760G>C (p.Glu254Gln)
n.262G>C
c.568G>C (p.Glu190Gln)
c.448-2486G>C (n.448-2486G>C)
 ClinVar gnomAD v4
1g.77926830G>TCA340874322NEXNc.802G>T (p.Glu268Ter)
c.610G>T (p.Glu204Ter)
c.501G>T
c.760G>T (p.Glu254Ter)
n.262G>T
c.568G>T (p.Glu190Ter)
c.448-2486G>T (n.448-2486G>T)
1g.77926831A=CA1177623827NEXNc.803A= (p.Glu268=)
c.611A= (p.Glu204=)
c.502A=
c.761A= (p.Glu254=)
n.263A=
c.569A= (p.Glu190=)
c.448-2485A= (n.448-2485A=)
1g.77926831A>CCA340874326NEXNc.803A>C (p.Glu268Ala)
c.611A>C (p.Glu204Ala)
c.502A>C
c.761A>C (p.Glu254Ala)
n.263A>C
c.569A>C (p.Glu190Ala)
c.448-2485A>C (n.448-2485A>C)
1g.77926831A>GCA24678822NEXNc.803A>G (p.Glu268Gly)
c.611A>G (p.Glu204Gly)
c.502A>G
c.761A>G (p.Glu254Gly)
n.263A>G
c.569A>G (p.Glu190Gly)
c.448-2485A>G (n.448-2485A>G)
 ClinVar dbSNP gnomAD v2
1g.77926831A>TCA340874329NEXNc.803A>T (p.Glu268Val)
c.611A>T (p.Glu204Val)
c.502A>T
c.761A>T (p.Glu254Val)
n.263A>T
c.569A>T (p.Glu190Val)
c.448-2485A>T (n.448-2485A>T)
1g.77926832G>ACA418709313NEXNc.804G>A (p.Glu268=)
c.612G>A (p.Glu204=)
c.503G>A
c.762G>A (p.Glu254=)
n.264G>A
c.570G>A (p.Glu190=)
c.448-2484G>A (n.448-2484G>A)
1g.77926832G>CCA340874332NEXNc.804G>C (p.Glu268Asp)
c.612G>C (p.Glu204Asp)
c.503G>C
c.762G>C (p.Glu254Asp)
n.264G>C
c.570G>C (p.Glu190Asp)
c.448-2484G>C (n.448-2484G>C)
 dbSNP
1g.77926832G=CA1177623828NEXNc.804G= (p.Glu268=)
c.612G= (p.Glu204=)
c.503G=
c.762G= (p.Glu254=)
n.264G=
c.570G= (p.Glu190=)
c.448-2484G= (n.448-2484G=)
1g.77926832G>TCA340874334NEXNc.804G>T (p.Glu268Asp)
c.612G>T (p.Glu204Asp)
c.503G>T
c.762G>T (p.Glu254Asp)
n.264G>T
c.570G>T (p.Glu190Asp)
c.448-2484G>T (n.448-2484G>T)
1g.77926833G>ACA340874340NEXNc.805G>A (p.Glu269Lys)
c.613G>A (p.Glu205Lys)
c.504G>A
c.763G>A (p.Glu255Lys)
n.265G>A
c.571G>A (p.Glu191Lys)
c.448-2483G>A (n.448-2483G>A)
1g.77926833G>CCA340874341NEXNc.805G>C (p.Glu269Gln)
c.613G>C (p.Glu205Gln)
c.504G>C
c.763G>C (p.Glu255Gln)
n.265G>C
c.571G>C (p.Glu191Gln)
c.448-2483G>C (n.448-2483G>C)
1g.77926833G>TCA340874342NEXNc.805G>T (p.Glu269Ter)
c.613G>T (p.Glu205Ter)
c.504G>T
c.763G>T (p.Glu255Ter)
n.265G>T
c.571G>T (p.Glu191Ter)
c.448-2483G>T (n.448-2483G>T)
1g.77926834A>CCA340874344NEXNc.806A>C (p.Glu269Ala)
c.614A>C (p.Glu205Ala)
c.505A>C
c.764A>C (p.Glu255Ala)
n.266A>C
c.572A>C (p.Glu191Ala)
c.448-2482A>C (n.448-2482A>C)
1g.77926834A>GCA340874347NEXNc.806A>G (p.Glu269Gly)
c.614A>G (p.Glu205Gly)
c.505A>G
c.764A>G (p.Glu255Gly)
n.266A>G
c.572A>G (p.Glu191Gly)
c.448-2482A>G (n.448-2482A>G)
1g.77926834A>TCA340874349NEXNc.806A>T (p.Glu269Val)
c.614A>T (p.Glu205Val)
c.505A>T
c.764A>T (p.Glu255Val)
n.266A>T
c.572A>T (p.Glu191Val)
c.448-2482A>T (n.448-2482A>T)
1g.77926835A>CCA340874353NEXNc.807A>C (p.Glu269Asp)
c.615A>C (p.Glu205Asp)
c.506A>C
c.765A>C (p.Glu255Asp)
n.267A>C
c.573A>C (p.Glu191Asp)
c.448-2481A>C (n.448-2481A>C)
1g.77926835A>GCA418709314NEXNc.807A>G (p.Glu269=)
c.615A>G (p.Glu205=)
c.506A>G
c.765A>G (p.Glu255=)
n.267A>G
c.573A>G (p.Glu191=)
c.448-2481A>G (n.448-2481A>G)
 gnomAD v4
1g.77926835A>TCA340874356NEXNc.807A>T (p.Glu269Asp)
c.615A>T (p.Glu205Asp)
c.506A>T
c.765A>T (p.Glu255Asp)
n.267A>T
c.573A>T (p.Glu191Asp)
c.448-2481A>T (n.448-2481A>T)
1g.77926836G>ACA340874382NEXNc.808G>A (p.Ala270Thr)
c.616G>A (p.Ala206Thr)
c.507G>A
c.766G>A (p.Ala256Thr)
n.268G>A
c.574G>A (p.Ala192Thr)
c.448-2480G>A (n.448-2480G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.77926836G>CCA340874386NEXNc.808G>C (p.Ala270Pro)
c.616G>C (p.Ala206Pro)
c.507G>C
c.766G>C (p.Ala256Pro)
n.268G>C
c.574G>C (p.Ala192Pro)
c.448-2480G>C (n.448-2480G>C)
1g.77926836G=CA1177623829NEXNc.808G= (p.Ala270=)
c.616G= (p.Ala206=)
c.507G=
c.766G= (p.Ala256=)
n.268G=
c.574G= (p.Ala192=)
c.448-2480G= (n.448-2480G=)
1g.77926836G>TCA340874376NEXNc.808G>T (p.Ala270Ser)
c.616G>T (p.Ala206Ser)
c.507G>T
c.766G>T (p.Ala256Ser)
n.268G>T
c.574G>T (p.Ala192Ser)
c.448-2480G>T (n.448-2480G>T)
1g.77926837C>ACA340874391NEXNc.809C>A (p.Ala270Glu)
c.617C>A (p.Ala206Glu)
c.508C>A
c.767C>A (p.Ala256Glu)
n.269C>A
c.575C>A (p.Ala192Glu)
c.448-2479C>A (n.448-2479C>A)
 gnomAD v4
1g.77926837C=CA1177623830NEXNc.809C= (p.Ala270=)
c.617C= (p.Ala206=)
c.508C=
c.767C= (p.Ala256=)
n.269C=
c.575C= (p.Ala192=)
c.448-2479C= (n.448-2479C=)
1g.77926837C>GCA340874396NEXNc.809C>G (p.Ala270Gly)
c.617C>G (p.Ala206Gly)
c.508C>G
c.767C>G (p.Ala256Gly)
n.269C>G
c.575C>G (p.Ala192Gly)
c.448-2479C>G (n.448-2479C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.77926837C>TCA918736NEXNc.809C>T (p.Ala270Val)
c.617C>T (p.Ala206Val)
c.508C>T
c.767C>T (p.Ala256Val)
n.269C>T
c.575C>T (p.Ala192Val)
c.448-2479C>T (n.448-2479C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77926838A>CCA418709315NEXNc.810A>C (p.Ala270=)
c.618A>C (p.Ala206=)
c.509A>C
c.768A>C (p.Ala256=)
n.270A>C
c.576A>C (p.Ala192=)
c.448-2478A>C (n.448-2478A>C)
1g.77926838A>GCA418709316NEXNc.810A>G (p.Ala270=)
c.618A>G (p.Ala206=)
c.509A>G
c.768A>G (p.Ala256=)
n.270A>G
c.576A>G (p.Ala192=)
c.448-2478A>G (n.448-2478A>G)
1g.77926838A>TCA418709317NEXNc.810A>T (p.Ala270=)
c.618A>T (p.Ala206=)
c.509A>T
c.768A>T (p.Ala256=)
n.270A>T
c.576A>T (p.Ala192=)
c.448-2478A>T (n.448-2478A>T)
1g.77926839A>CCA418709318NEXNc.811A>C (p.Arg271=)
c.619A>C (p.Arg207=)
c.510A>C
c.769A>C (p.Arg257=)
n.271A>C
c.577A>C (p.Arg193=)
c.448-2477A>C (n.448-2477A>C)
1g.77926839A>GCA340874401NEXNc.811A>G (p.Arg271Gly)
c.619A>G (p.Arg207Gly)
c.510A>G
c.769A>G (p.Arg257Gly)
n.271A>G
c.577A>G (p.Arg193Gly)
c.448-2477A>G (n.448-2477A>G)
1g.77926839A>TCA340874403NEXNc.811A>T (p.Arg271Ter)
c.619A>T (p.Arg207Ter)
c.510A>T
c.769A>T (p.Arg257Ter)
n.271A>T
c.577A>T (p.Arg193Ter)
c.448-2477A>T (n.448-2477A>T)
1g.77926840G>ACA340874406NEXNc.812G>A (p.Arg271Lys)
c.620G>A (p.Arg207Lys)
c.511G>A
c.770G>A (p.Arg257Lys)
n.272G>A
c.578G>A (p.Arg193Lys)
c.448-2476G>A (n.448-2476G>A)
 gnomAD v4
1g.77926840G>CCA340874408NEXNc.812G>C (p.Arg271Thr)
c.620G>C (p.Arg207Thr)
c.511G>C
c.770G>C (p.Arg257Thr)
n.272G>C
c.578G>C (p.Arg193Thr)
c.448-2476G>C (n.448-2476G>C)
1g.77926840G>TCA340874410NEXNc.812G>T (p.Arg271Ile)
c.620G>T (p.Arg207Ile)
c.511G>T
c.770G>T (p.Arg257Ile)
n.272G>T
c.578G>T (p.Arg193Ile)
c.448-2476G>T (n.448-2476G>T)
1g.77926841A>CCA340874413NEXNc.813A>C (p.Arg271Ser)
c.621A>C (p.Arg207Ser)
c.512A>C
c.771A>C (p.Arg257Ser)
n.273A>C
c.579A>C (p.Arg193Ser)
c.448-2475A>C (n.448-2475A>C)
1g.77926841A>GCA418709319NEXNc.813A>G (p.Arg271=)
c.621A>G (p.Arg207=)
c.512A>G
c.771A>G (p.Arg257=)
n.273A>G
c.579A>G (p.Arg193=)
c.448-2475A>G (n.448-2475A>G)
 gnomAD v4
1g.77926841A>TCA340874414NEXNc.813A>T (p.Arg271Ser)
c.621A>T (p.Arg207Ser)
c.512A>T
c.771A>T (p.Arg257Ser)
n.273A>T
c.579A>T (p.Arg193Ser)
c.448-2475A>T (n.448-2475A>T)
1g.77926841_77926842insGGCA2740090535NEXNc.813_814insGG (p.Lys272GlyfsTer4)
c.621_622insGG (p.Lys208GlyfsTer4)
c.512_513insGG
c.771_772insGG (p.Lys258GlyfsTer4)
n.273_274insGG
c.579_580insGG (p.Lys194GlyfsTer4)
c.448-2475_448-2474insGG (n.448-2475_448-2474insGG)
 ClinVar
1g.77926842A>CCA340874417NEXNc.814A>C (p.Lys272Gln)
c.622A>C (p.Lys208Gln)
c.513A>C
c.772A>C (p.Lys258Gln)
n.274A>C
c.580A>C (p.Lys194Gln)
c.448-2474A>C (n.448-2474A>C)
1g.77926842A>GCA340874419NEXNc.814A>G (p.Lys272Glu)
c.622A>G (p.Lys208Glu)
c.513A>G
c.772A>G (p.Lys258Glu)
n.274A>G
c.580A>G (p.Lys194Glu)
c.448-2474A>G (n.448-2474A>G)
1g.77926842A>TCA340874421NEXNc.814A>T (p.Lys272Ter)
c.622A>T (p.Lys208Ter)
c.513A>T
c.772A>T (p.Lys258Ter)
n.274A>T
c.580A>T (p.Lys194Ter)
c.448-2474A>T (n.448-2474A>T)
1g.77926843A>CCA340874424NEXNc.815A>C (p.Lys272Thr)
c.623A>C (p.Lys208Thr)
c.514A>C
c.773A>C (p.Lys258Thr)
n.275A>C
c.581A>C (p.Lys194Thr)
c.448-2473A>C (n.448-2473A>C)
1g.77926843A>GCA340874430NEXNc.815A>G (p.Lys272Arg)
c.623A>G (p.Lys208Arg)
c.514A>G
c.773A>G (p.Lys258Arg)
n.275A>G
c.581A>G (p.Lys194Arg)
c.448-2473A>G (n.448-2473A>G)
1g.77926843A>TCA340874426NEXNc.815A>T (p.Lys272Ile)
c.623A>T (p.Lys208Ile)
c.514A>T
c.773A>T (p.Lys258Ile)
n.275A>T
c.581A>T (p.Lys194Ile)
c.448-2473A>T (n.448-2473A>T)
1g.77926844A=CA1143828474NEXNc.816A= (p.Lys272=)
c.624A= (p.Lys208=)
c.515A=
c.774A= (p.Lys258=)
n.276A=
c.582A= (p.Lys194=)
c.448-2472A= (n.448-2472A=)
1g.77926844A>CCA340874433NEXNc.816A>C (p.Lys272Asn)
c.624A>C (p.Lys208Asn)
c.515A>C
c.774A>C (p.Lys258Asn)
n.276A>C
c.582A>C (p.Lys194Asn)
c.448-2472A>C (n.448-2472A>C)
1g.77926844A>GCA918737NEXNc.816A>G (p.Lys272=)
c.624A>G (p.Lys208=)
c.515A>G
c.774A>G (p.Lys258=)
n.276A>G
c.582A>G (p.Lys194=)
c.448-2472A>G (n.448-2472A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926844A>TCA340874438NEXNc.816A>T (p.Lys272Asn)
c.624A>T (p.Lys208Asn)
c.515A>T
c.774A>T (p.Lys258Asn)
n.276A>T
c.582A>T (p.Lys194Asn)
c.448-2472A>T (n.448-2472A>T)
1g.77926845delCA2573051623NEXNc.817del (p.Arg273ValfsTer2)
c.625del (p.Arg209ValfsTer2)
c.516del
c.775del (p.Arg259ValfsTer2)
n.277del
c.583del (p.Arg195ValfsTer2)
c.448-2471del (n.448-2471del)
 ClinVar dbSNP
1g.77926845C>ACA340874440NEXNc.817C>A (p.Arg273Ser)
c.625C>A (p.Arg209Ser)
c.516C>A
c.775C>A (p.Arg259Ser)
n.277C>A
c.583C>A (p.Arg195Ser)
c.448-2471C>A (n.448-2471C>A)
1g.77926845C=CA1177623831NEXNc.817C= (p.Arg273=)
c.625C= (p.Arg209=)
c.516C=
c.775C= (p.Arg259=)
n.277C=
c.583C= (p.Arg195=)
c.448-2471C= (n.448-2471C=)
1g.77926845C>GCA340874445NEXNc.817C>G (p.Arg273Gly)
c.625C>G (p.Arg209Gly)
c.516C>G
c.775C>G (p.Arg259Gly)
n.277C>G
c.583C>G (p.Arg195Gly)
c.448-2471C>G (n.448-2471C>G)
1g.77926845C>TCA10587439NEXNc.817C>T (p.Arg273Cys)
c.625C>T (p.Arg209Cys)
c.516C>T
c.775C>T (p.Arg259Cys)
n.277C>T
c.583C>T (p.Arg195Cys)
c.448-2471C>T (n.448-2471C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77926846G>ACA918738NEXNc.818G>A (p.Arg273His)
c.626G>A (p.Arg209His)
c.517G>A
c.776G>A (p.Arg259His)
n.278G>A
c.584G>A (p.Arg195His)
c.448-2470G>A (n.448-2470G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926846G>CCA340874450NEXNc.818G>C (p.Arg273Pro)
c.626G>C (p.Arg209Pro)
c.517G>C
c.776G>C (p.Arg259Pro)
n.278G>C
c.584G>C (p.Arg195Pro)
c.448-2470G>C (n.448-2470G>C)
1g.77926846G=CA1177623832NEXNc.818G= (p.Arg273=)
c.626G= (p.Arg209=)
c.517G=
c.776G= (p.Arg259=)
n.278G=
c.584G= (p.Arg195=)
c.448-2470G= (n.448-2470G=)
1g.77926846G>TCA340874451NEXNc.818G>T (p.Arg273Leu)
c.626G>T (p.Arg209Leu)
c.517G>T
c.776G>T (p.Arg259Leu)
n.278G>T
c.584G>T (p.Arg195Leu)
c.448-2470G>T (n.448-2470G>T)
1g.77926847T>ACA418709320NEXNc.819T>A (p.Arg273=)
c.627T>A (p.Arg209=)
c.518T>A
c.777T>A (p.Arg259=)
n.279T>A
c.585T>A (p.Arg195=)
c.448-2469T>A (n.448-2469T>A)
1g.77926847T>CCA418709321NEXNc.819T>C (p.Arg273=)
c.627T>C (p.Arg209=)
c.518T>C
c.777T>C (p.Arg259=)
n.279T>C
c.585T>C (p.Arg195=)
c.448-2469T>C (n.448-2469T>C)
1g.77926847T>GCA418709322NEXNc.819T>G (p.Arg273=)
c.627T>G (p.Arg209=)
c.518T>G
c.777T>G (p.Arg259=)
n.279T>G
c.585T>G (p.Arg195=)
c.448-2469T>G (n.448-2469T>G)
 gnomAD v4
1g.77926848T>ACA340874454NEXNc.820T>A (p.Leu274Ile)
c.628T>A (p.Leu210Ile)
c.519T>A
c.778T>A (p.Leu260Ile)
n.280T>A
c.586T>A (p.Leu196Ile)
c.448-2468T>A (n.448-2468T>A)
1g.77926848T>CCA418709323NEXNc.820T>C (p.Leu274=)
c.628T>C (p.Leu210=)
c.519T>C
c.778T>C (p.Leu260=)
n.280T>C
c.586T>C (p.Leu196=)
c.448-2468T>C (n.448-2468T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77926848T>GCA340874457NEXNc.820T>G (p.Leu274Val)
c.628T>G (p.Leu210Val)
c.519T>G
c.778T>G (p.Leu260Val)
n.280T>G
c.586T>G (p.Leu196Val)
c.448-2468T>G (n.448-2468T>G)
1g.77926848T=CA1177623833NEXNc.820T= (p.Leu274=)
c.628T= (p.Leu210=)
c.519T=
c.778T= (p.Leu260=)
n.280T=
c.586T= (p.Leu196=)
c.448-2468T= (n.448-2468T=)
1g.77926849T>ACA340874461NEXNc.821T>A (p.Leu274Ter)
c.629T>A (p.Leu210Ter)
c.520T>A
c.779T>A (p.Leu260Ter)
n.281T>A
c.587T>A (p.Leu196Ter)
c.448-2467T>A (n.448-2467T>A)
1g.77926849T>CCA340874464NEXNc.821T>C (p.Leu274Ser)
c.629T>C (p.Leu210Ser)
c.520T>C
c.779T>C (p.Leu260Ser)
n.281T>C
c.587T>C (p.Leu196Ser)
c.448-2467T>C (n.448-2467T>C)
 ClinVar dbSNP
1g.77926849T>GCA340874459NEXNc.821T>G (p.Leu274Ter)
c.629T>G (p.Leu210Ter)
c.520T>G
c.779T>G (p.Leu260Ter)
n.281T>G
c.587T>G (p.Leu196Ter)
c.448-2467T>G (n.448-2467T>G)
1g.77926849_77926852delinsTAGACA1177623834NEXNc.821_824delinsTAGA (p.Leu274=)
c.629_632delinsTAGA (p.Leu210=)
c.520_523delinsTAGA
c.779_782delinsTAGA (p.Leu260=)
n.281_284delinsTAGA
c.587_590delinsTAGA (p.Leu196=)
c.448-2467_448-2464delinsTAGA (n.448-2467_448-2464delinsTAGA)
1g.77926850A>CCA340874466NEXNc.822A>C (p.Leu274Phe)
c.630A>C (p.Leu210Phe)
c.521A>C
c.780A>C (p.Leu260Phe)
n.282A>C
c.588A>C (p.Leu196Phe)
c.448-2466A>C (n.448-2466A>C)
1g.77926850A>GCA418709324NEXNc.822A>G (p.Leu274=)
c.630A>G (p.Leu210=)
c.521A>G
c.780A>G (p.Leu260=)
n.282A>G
c.588A>G (p.Leu196=)
c.448-2466A>G (n.448-2466A>G)
1g.77926850A>TCA340874465NEXNc.822A>T (p.Leu274Phe)
c.630A>T (p.Leu210Phe)
c.521A>T
c.780A>T (p.Leu260Phe)
n.282A>T
c.588A>T (p.Leu196Phe)
c.448-2466A>T (n.448-2466A>T)
1g.77926856_77926858delCA918739NEXNc.828_830del (p.Glu277del)
c.636_638del (p.Glu213del)
c.527_529del
c.786_788del (p.Glu263del)
n.288_290del
c.594_596del (p.Glu199del)
c.448-2460_448-2458del (n.448-2460_448-2458del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77926851G>ACA340874467NEXNc.823G>A (p.Glu275Lys)
c.631G>A (p.Glu211Lys)
c.522G>A
c.781G>A (p.Glu261Lys)
n.283G>A
c.589G>A (p.Glu197Lys)
c.448-2465G>A (n.448-2465G>A)
1g.77926851G>CCA340874468NEXNc.823G>C (p.Glu275Gln)
c.631G>C (p.Glu211Gln)
c.522G>C
c.781G>C (p.Glu261Gln)
n.283G>C
c.589G>C (p.Glu197Gln)
c.448-2465G>C (n.448-2465G>C)
1g.77926851G>TCA340874469NEXNc.823G>T (p.Glu275Ter)
c.631G>T (p.Glu211Ter)
c.522G>T
c.781G>T (p.Glu261Ter)
n.283G>T
c.589G>T (p.Glu197Ter)
c.448-2465G>T (n.448-2465G>T)
1g.77926852A>CCA340874470NEXNc.824A>C (p.Glu275Ala)
c.632A>C (p.Glu211Ala)
c.523A>C
c.782A>C (p.Glu261Ala)
n.284A>C
c.590A>C (p.Glu197Ala)
c.448-2464A>C (n.448-2464A>C)
1g.77926852A>GCA340874472NEXNc.824A>G (p.Glu275Gly)
c.632A>G (p.Glu211Gly)
c.523A>G
c.782A>G (p.Glu261Gly)
n.284A>G
c.590A>G (p.Glu197Gly)
c.448-2464A>G (n.448-2464A>G)
1g.77926852A>TCA340874475NEXNc.824A>T (p.Glu275Val)
c.632A>T (p.Glu211Val)
c.523A>T
c.782A>T (p.Glu261Val)
n.284A>T
c.590A>T (p.Glu197Val)
c.448-2464A>T (n.448-2464A>T)
1g.77926853A>CCA340874477NEXNc.825A>C (p.Glu275Asp)
c.633A>C (p.Glu211Asp)
c.524A>C
c.783A>C (p.Glu261Asp)
n.285A>C
c.591A>C (p.Glu197Asp)
c.448-2463A>C (n.448-2463A>C)
1g.77926853A>GCA418709325NEXNc.825A>G (p.Glu275=)
c.633A>G (p.Glu211=)
c.524A>G
c.783A>G (p.Glu261=)
n.285A>G
c.591A>G (p.Glu197=)
c.448-2463A>G (n.448-2463A>G)
1g.77926853A>TCA340874482NEXNc.825A>T (p.Glu275Asp)
c.633A>T (p.Glu211Asp)
c.524A>T
c.783A>T (p.Glu261Asp)
n.285A>T
c.591A>T (p.Glu197Asp)
c.448-2463A>T (n.448-2463A>T)
1g.77926854G>ACA340874485NEXNc.826G>A (p.Glu276Lys)
c.634G>A (p.Glu212Lys)
c.525G>A
c.784G>A (p.Glu262Lys)
n.286G>A
c.592G>A (p.Glu198Lys)
c.448-2462G>A (n.448-2462G>A)
 ClinVar dbSNP
1g.77926854G>CCA340874488NEXNc.826G>C (p.Glu276Gln)
c.634G>C (p.Glu212Gln)
c.525G>C
c.784G>C (p.Glu262Gln)
n.286G>C
c.592G>C (p.Glu198Gln)
c.448-2462G>C (n.448-2462G>C)
 gnomAD v4
1g.77926854G=CA1177623835NEXNc.826G= (p.Glu276=)
c.634G= (p.Glu212=)
c.525G=
c.784G= (p.Glu262=)
n.286G=
c.592G= (p.Glu198=)
c.448-2462G= (n.448-2462G=)
1g.77926854G>TCA340874490NEXNc.826G>T (p.Glu276Ter)
c.634G>T (p.Glu212Ter)
c.525G>T
c.784G>T (p.Glu262Ter)
n.286G>T
c.592G>T (p.Glu198Ter)
c.448-2462G>T (n.448-2462G>T)
 gnomAD v4
1g.77926855A>CCA340874497NEXNc.827A>C (p.Glu276Ala)
c.635A>C (p.Glu212Ala)
c.526A>C
c.785A>C (p.Glu262Ala)
n.287A>C
c.593A>C (p.Glu198Ala)
c.448-2461A>C (n.448-2461A>C)
1g.77926855A>GCA340874502NEXNc.827A>G (p.Glu276Gly)
c.635A>G (p.Glu212Gly)
c.526A>G
c.785A>G (p.Glu262Gly)
n.287A>G
c.593A>G (p.Glu198Gly)
c.448-2461A>G (n.448-2461A>G)
1g.77926855A>TCA340874499NEXNc.827A>T (p.Glu276Val)
c.635A>T (p.Glu212Val)
c.526A>T
c.785A>T (p.Glu262Val)
n.287A>T
c.593A>T (p.Glu198Val)
c.448-2461A>T (n.448-2461A>T)
1g.77926856A=CA1177623836NEXNc.828A= (p.Glu276=)
c.636A= (p.Glu212=)
c.527A=
c.786A= (p.Glu262=)
n.288A=
c.594A= (p.Glu198=)
c.448-2460A= (n.448-2460A=)
1g.77926856A>CCA340874506NEXNc.828A>C (p.Glu276Asp)
c.636A>C (p.Glu212Asp)
c.527A>C
c.786A>C (p.Glu262Asp)
n.288A>C
c.594A>C (p.Glu198Asp)
c.448-2460A>C (n.448-2460A>C)
1g.77926856A>GCA918740NEXNc.828A>G (p.Glu276=)
c.636A>G (p.Glu212=)
c.527A>G
c.786A>G (p.Glu262=)
n.288A>G
c.594A>G (p.Glu198=)
c.448-2460A>G (n.448-2460A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77926856A>TCA340874512NEXNc.828A>T (p.Glu276Asp)
c.636A>T (p.Glu212Asp)
c.527A>T
c.786A>T (p.Glu262Asp)
n.288A>T
c.594A>T (p.Glu198Asp)
c.448-2460A>T (n.448-2460A>T)
1g.77926857G>ACA340874513NEXNc.829G>A (p.Glu277Lys)
c.637G>A (p.Glu213Lys)
c.528G>A
c.787G>A (p.Glu263Lys)
n.289G>A
c.595G>A (p.Glu199Lys)
c.448-2459G>A (n.448-2459G>A)
1g.77926857G>CCA340874514NEXNc.829G>C (p.Glu277Gln)
c.637G>C (p.Glu213Gln)
c.528G>C
c.787G>C (p.Glu263Gln)
n.289G>C
c.595G>C (p.Glu199Gln)
c.448-2459G>C (n.448-2459G>C)
 gnomAD v4
1g.77926857G>TCA340874515NEXNc.829G>T (p.Glu277Ter)
c.637G>T (p.Glu213Ter)
c.528G>T
c.787G>T (p.Glu263Ter)
n.289G>T
c.595G>T (p.Glu199Ter)
c.448-2459G>T (n.448-2459G>T)
1g.77926857_77926859delCA2646304757NEXNc.829_831del (p.Glu277del)
c.637_639del (p.Glu213del)
c.528_530del
c.787_789del (p.Glu263del)
n.289_291del
c.595_597del (p.Glu199del)
c.448-2459_448-2457del (n.448-2459_448-2457del)
 gnomAD v4
1g.77926858A>CCA340874517NEXNc.830A>C (p.Glu277Ala)
c.638A>C (p.Glu213Ala)
c.529A>C
c.788A>C (p.Glu263Ala)
n.290A>C
c.596A>C (p.Glu199Ala)
c.448-2458A>C (n.448-2458A>C)
1g.77926858A>GCA340874520NEXNc.830A>G (p.Glu277Gly)
c.638A>G (p.Glu213Gly)
c.529A>G
c.788A>G (p.Glu263Gly)
n.290A>G
c.596A>G (p.Glu199Gly)
c.448-2458A>G (n.448-2458A>G)
1g.77926858A>TCA340874527NEXNc.830A>T (p.Glu277Val)
c.638A>T (p.Glu213Val)
c.529A>T
c.788A>T (p.Glu263Val)
n.290A>T
c.596A>T (p.Glu199Val)
c.448-2458A>T (n.448-2458A>T)
1g.77926859G>ACA418709326NEXNc.831G>A (p.Glu277=)
c.639G>A (p.Glu213=)
c.530G>A
c.789G>A (p.Glu263=)
n.291G>A
c.597G>A (p.Glu199=)
c.448-2457G>A (n.448-2457G>A)
1g.77926859G>CCA340874531NEXNc.831G>C (p.Glu277Asp)
c.639G>C (p.Glu213Asp)
c.530G>C
c.789G>C (p.Glu263Asp)
n.291G>C
c.597G>C (p.Glu199Asp)
c.448-2457G>C (n.448-2457G>C)
1g.77926859G>TCA340874533NEXNc.831G>T (p.Glu277Asp)
c.639G>T (p.Glu213Asp)
c.530G>T
c.789G>T (p.Glu263Asp)
n.291G>T
c.597G>T (p.Glu199Asp)
c.448-2457G>T (n.448-2457G>T)
1g.77926860A>CCA340874535NEXNc.832A>C (p.Lys278Gln)
c.640A>C (p.Lys214Gln)
c.531A>C
c.790A>C (p.Lys264Gln)
n.292A>C
c.598A>C (p.Lys200Gln)
c.448-2456A>C (n.448-2456A>C)
1g.77926860A>GCA340874536NEXNc.832A>G (p.Lys278Glu)
c.640A>G (p.Lys214Glu)
c.531A>G
c.790A>G (p.Lys264Glu)
n.292A>G
c.598A>G (p.Lys200Glu)
c.448-2456A>G (n.448-2456A>G)
1g.77926860A>TCA340874534NEXNc.832A>T (p.Lys278Ter)
c.640A>T (p.Lys214Ter)
c.531A>T
c.790A>T (p.Lys264Ter)
n.292A>T
c.598A>T (p.Lys200Ter)
c.448-2456A>T (n.448-2456A>T)
1g.77926861A>CCA340874537NEXNc.833A>C (p.Lys278Thr)
c.641A>C (p.Lys214Thr)
c.532A>C
c.791A>C (p.Lys264Thr)
n.293A>C
c.599A>C (p.Lys200Thr)
c.448-2455A>C (n.448-2455A>C)
1g.77926861A>GCA340874538NEXNc.833A>G (p.Lys278Arg)
c.641A>G (p.Lys214Arg)
c.532A>G
c.791A>G (p.Lys264Arg)
n.293A>G
c.599A>G (p.Lys200Arg)
c.448-2455A>G (n.448-2455A>G)
1g.77926861A>TCA340874541NEXNc.833A>T (p.Lys278Met)
c.641A>T (p.Lys214Met)
c.532A>T
c.791A>T (p.Lys264Met)
n.293A>T
c.599A>T (p.Lys200Met)
c.448-2455A>T (n.448-2455A>T)
1g.77926862G>ACA418709327NEXNc.834G>A (p.Lys278=)
c.642G>A (p.Lys214=)
c.533G>A
c.792G>A (p.Lys264=)
n.294G>A
c.600G>A (p.Lys200=)
c.448-2454G>A (n.448-2454G>A)
 dbSNP
1g.77926862G>CCA24678849NEXNc.834G>C (p.Lys278Asn)
c.642G>C (p.Lys214Asn)
c.533G>C
c.792G>C (p.Lys264Asn)
n.294G>C
c.600G>C (p.Lys200Asn)
c.448-2454G>C (n.448-2454G>C)
 dbSNP gnomAD v4
1g.77926862G=CA1177623837NEXNc.834G= (p.Lys278=)
c.642G= (p.Lys214=)
c.533G=
c.792G= (p.Lys264=)
n.294G=
c.600G= (p.Lys200=)
c.448-2454G= (n.448-2454G=)
1g.77926862G>TCA340874544NEXNc.834G>T (p.Lys278Asn)
c.642G>T (p.Lys214Asn)
c.533G>T
c.792G>T (p.Lys264Asn)
n.294G>T
c.600G>T (p.Lys200Asn)
c.448-2454G>T (n.448-2454G>T)
1g.77926863C>ACA918741NEXNc.835C>A (p.Arg279Ser)
c.643C>A (p.Arg215Ser)
c.534C>A
c.793C>A (p.Arg265Ser)
n.295C>A
c.601C>A (p.Arg201Ser)
c.448-2453C>A (n.448-2453C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77926863C=CA1142103992NEXNc.835C= (p.Arg279=)
c.643C= (p.Arg215=)
c.534C=
c.793C= (p.Arg265=)
n.295C=
c.601C= (p.Arg201=)
c.448-2453C= (n.448-2453C=)
1g.77926863C>GCA340874548NEXNc.835C>G (p.Arg279Gly)
c.643C>G (p.Arg215Gly)
c.534C>G
c.793C>G (p.Arg265Gly)
n.295C>G
c.601C>G (p.Arg201Gly)
c.448-2453C>G (n.448-2453C>G)
1g.77926863C>TCA129605NEXNc.835C>T (p.Arg279Cys)
c.643C>T (p.Arg215Cys)
c.534C>T
c.793C>T (p.Arg265Cys)
n.295C>T
c.601C>T (p.Arg201Cys)
c.448-2453C>T (n.448-2453C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched