Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127423319A=CA1286882145PROCc.446A= (p.His149=)
c.31A=
c.548A= (p.His183=)
c.401-12A= (n.401-12A=)
n.32A=
c.629A= (p.His210=)
c.611A= (p.His204=)
c.509A= (p.His170=)
c.689A= (p.His230=)
c.791A= (p.His264=)
c.731A= (p.His244=)
c.614A= (p.His205=)
c.632A= (p.His211=)
c.422A= (p.His141=)
c.440A= (p.His147=)
2g.127423319A>CCA114428PROCc.446A>C (p.His149Pro)
c.31A>C
c.548A>C (p.His183Pro)
c.401-12A>C (n.401-12A>C)
n.32A>C
c.629A>C (p.His210Pro)
c.611A>C (p.His204Pro)
c.509A>C (p.His170Pro)
c.689A>C (p.His230Pro)
c.791A>C (p.His264Pro)
c.731A>C (p.His244Pro)
c.614A>C (p.His205Pro)
c.632A>C (p.His211Pro)
c.422A>C (p.His141Pro)
c.440A>C (p.His147Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127423319A>GCA348399852PROCc.446A>G (p.His149Arg)
c.31A>G
c.548A>G (p.His183Arg)
c.401-12A>G (n.401-12A>G)
n.32A>G
c.629A>G (p.His210Arg)
c.611A>G (p.His204Arg)
c.509A>G (p.His170Arg)
c.689A>G (p.His230Arg)
c.791A>G (p.His264Arg)
c.731A>G (p.His244Arg)
c.614A>G (p.His205Arg)
c.632A>G (p.His211Arg)
c.422A>G (p.His141Arg)
c.440A>G (p.His147Arg)
 ClinVar
2g.127423319A>TCA348399849PROCc.446A>T (p.His149Leu)
c.31A>T
c.548A>T (p.His183Leu)
c.401-12A>T (n.401-12A>T)
n.32A>T
c.629A>T (p.His210Leu)
c.611A>T (p.His204Leu)
c.509A>T (p.His170Leu)
c.689A>T (p.His230Leu)
c.791A>T (p.His264Leu)
c.731A>T (p.His244Leu)
c.614A>T (p.His205Leu)
c.632A>T (p.His211Leu)
c.422A>T (p.His141Leu)
c.440A>T (p.His147Leu)
2g.127423320T>ACA348399854PROCc.447T>A (p.His149Gln)
c.32T>A
c.549T>A (p.His183Gln)
c.401-11T>A (n.401-11T>A)
n.33T>A
c.630T>A (p.His210Gln)
c.612T>A (p.His204Gln)
c.510T>A (p.His170Gln)
c.690T>A (p.His230Gln)
c.792T>A (p.His264Gln)
c.732T>A (p.His244Gln)
c.615T>A (p.His205Gln)
c.633T>A (p.His211Gln)
c.423T>A (p.His141Gln)
c.441T>A (p.His147Gln)
 gnomAD v4
2g.127423320T>CCA428874581PROCc.447T>C (p.His149=)
c.32T>C
c.549T>C (p.His183=)
c.401-11T>C (n.401-11T>C)
n.33T>C
c.630T>C (p.His210=)
c.612T>C (p.His204=)
c.510T>C (p.His170=)
c.690T>C (p.His230=)
c.792T>C (p.His264=)
c.732T>C (p.His244=)
c.615T>C (p.His205=)
c.633T>C (p.His211=)
c.423T>C (p.His141=)
c.441T>C (p.His147=)
2g.127423320T>GCA348399853PROCc.447T>G (p.His149Gln)
c.32T>G
c.549T>G (p.His183Gln)
c.401-11T>G (n.401-11T>G)
n.33T>G
c.630T>G (p.His210Gln)
c.612T>G (p.His204Gln)
c.510T>G (p.His170Gln)
c.690T>G (p.His230Gln)
c.792T>G (p.His264Gln)
c.732T>G (p.His244Gln)
c.615T>G (p.His205Gln)
c.633T>G (p.His211Gln)
c.423T>G (p.His141Gln)
c.441T>G (p.His147Gln)
2g.127423321T>ACA348399855PROCc.448T>A (p.Tyr150Asn)
c.33T>A
c.550T>A (p.Tyr184Asn)
c.401-10T>A (n.401-10T>A)
n.34T>A
c.631T>A (p.Tyr211Asn)
c.613T>A (p.Tyr205Asn)
c.511T>A (p.Tyr171Asn)
c.691T>A (p.Tyr231Asn)
c.793T>A (p.Tyr265Asn)
c.733T>A (p.Tyr245Asn)
c.616T>A (p.Tyr206Asn)
c.634T>A (p.Tyr212Asn)
c.424T>A (p.Tyr142Asn)
c.442T>A (p.Tyr148Asn)
2g.127423321T>CCA348399856PROCc.448T>C (p.Tyr150His)
c.33T>C
c.550T>C (p.Tyr184His)
c.401-10T>C (n.401-10T>C)
n.34T>C
c.631T>C (p.Tyr211His)
c.613T>C (p.Tyr205His)
c.511T>C (p.Tyr171His)
c.691T>C (p.Tyr231His)
c.793T>C (p.Tyr265His)
c.733T>C (p.Tyr245His)
c.616T>C (p.Tyr206His)
c.634T>C (p.Tyr212His)
c.424T>C (p.Tyr142His)
c.442T>C (p.Tyr148His)
2g.127423321T>GCA348399857PROCc.448T>G (p.Tyr150Asp)
c.33T>G
c.550T>G (p.Tyr184Asp)
c.401-10T>G (n.401-10T>G)
n.34T>G
c.631T>G (p.Tyr211Asp)
c.613T>G (p.Tyr205Asp)
c.511T>G (p.Tyr171Asp)
c.691T>G (p.Tyr231Asp)
c.793T>G (p.Tyr265Asp)
c.733T>G (p.Tyr245Asp)
c.616T>G (p.Tyr206Asp)
c.634T>G (p.Tyr212Asp)
c.424T>G (p.Tyr142Asp)
c.442T>G (p.Tyr148Asp)
2g.127423322A>CCA348399858PROCc.449A>C (p.Tyr150Ser)
c.34A>C
c.551A>C (p.Tyr184Ser)
c.401-9A>C (n.401-9A>C)
n.35A>C
c.632A>C (p.Tyr211Ser)
c.614A>C (p.Tyr205Ser)
c.512A>C (p.Tyr171Ser)
c.692A>C (p.Tyr231Ser)
c.794A>C (p.Tyr265Ser)
c.734A>C (p.Tyr245Ser)
c.617A>C (p.Tyr206Ser)
c.635A>C (p.Tyr212Ser)
c.425A>C (p.Tyr142Ser)
c.443A>C (p.Tyr148Ser)
2g.127423322A>GCA348399859PROCc.449A>G (p.Tyr150Cys)
c.34A>G
c.551A>G (p.Tyr184Cys)
c.401-9A>G (n.401-9A>G)
n.35A>G
c.632A>G (p.Tyr211Cys)
c.614A>G (p.Tyr205Cys)
c.512A>G (p.Tyr171Cys)
c.692A>G (p.Tyr231Cys)
c.794A>G (p.Tyr265Cys)
c.734A>G (p.Tyr245Cys)
c.617A>G (p.Tyr206Cys)
c.635A>G (p.Tyr212Cys)
c.425A>G (p.Tyr142Cys)
c.443A>G (p.Tyr148Cys)
2g.127423322A>TCA348399860PROCc.449A>T (p.Tyr150Phe)
c.34A>T
c.551A>T (p.Tyr184Phe)
c.401-9A>T (n.401-9A>T)
n.35A>T
c.632A>T (p.Tyr211Phe)
c.614A>T (p.Tyr205Phe)
c.512A>T (p.Tyr171Phe)
c.692A>T (p.Tyr231Phe)
c.794A>T (p.Tyr265Phe)
c.734A>T (p.Tyr245Phe)
c.617A>T (p.Tyr206Phe)
c.635A>T (p.Tyr212Phe)
c.425A>T (p.Tyr142Phe)
c.443A>T (p.Tyr148Phe)
2g.127423323C>ACA348399863PROCc.450C>A (p.Tyr150Ter)
c.35C>A
c.552C>A (p.Tyr184Ter)
c.401-8C>A (n.401-8C>A)
n.36C>A
c.633C>A (p.Tyr211Ter)
c.615C>A (p.Tyr205Ter)
c.513C>A (p.Tyr171Ter)
c.693C>A (p.Tyr231Ter)
c.795C>A (p.Tyr265Ter)
c.735C>A (p.Tyr245Ter)
c.618C>A (p.Tyr206Ter)
c.636C>A (p.Tyr212Ter)
c.426C>A (p.Tyr142Ter)
c.444C>A (p.Tyr148Ter)
2g.127423323C>GCA348399864PROCc.450C>G (p.Tyr150Ter)
c.35C>G
c.552C>G (p.Tyr184Ter)
c.401-8C>G (n.401-8C>G)
n.36C>G
c.633C>G (p.Tyr211Ter)
c.615C>G (p.Tyr205Ter)
c.513C>G (p.Tyr171Ter)
c.693C>G (p.Tyr231Ter)
c.795C>G (p.Tyr265Ter)
c.735C>G (p.Tyr245Ter)
c.618C>G (p.Tyr206Ter)
c.636C>G (p.Tyr212Ter)
c.426C>G (p.Tyr142Ter)
c.444C>G (p.Tyr148Ter)
 gnomAD v4
2g.127423323C>TCA428874594PROCc.450C>T (p.Tyr150=)
c.35C>T
c.552C>T (p.Tyr184=)
c.401-8C>T (n.401-8C>T)
n.36C>T
c.633C>T (p.Tyr211=)
c.615C>T (p.Tyr205=)
c.513C>T (p.Tyr171=)
c.693C>T (p.Tyr231=)
c.795C>T (p.Tyr265=)
c.735C>T (p.Tyr245=)
c.618C>T (p.Tyr206=)
c.636C>T (p.Tyr212=)
c.426C>T (p.Tyr142=)
c.444C>T (p.Tyr148=)
 gnomAD v4
2g.127423324T>ACA348399865PROCc.451T>A (p.Cys151Ser)
c.36T>A
c.553T>A (p.Cys185Ser)
c.401-7T>A (n.401-7T>A)
n.37T>A
c.634T>A (p.Cys212Ser)
c.616T>A (p.Cys206Ser)
c.514T>A (p.Cys172Ser)
c.694T>A (p.Cys232Ser)
c.796T>A (p.Cys266Ser)
c.736T>A (p.Cys246Ser)
c.619T>A (p.Cys207Ser)
c.637T>A (p.Cys213Ser)
c.427T>A (p.Cys143Ser)
c.445T>A (p.Cys149Ser)
 gnomAD v4
2g.127423324T>CCA1859354PROCc.451T>C (p.Cys151Arg)
c.36T>C
c.553T>C (p.Cys185Arg)
c.401-7T>C (n.401-7T>C)
n.37T>C
c.634T>C (p.Cys212Arg)
c.616T>C (p.Cys206Arg)
c.514T>C (p.Cys172Arg)
c.694T>C (p.Cys232Arg)
c.796T>C (p.Cys266Arg)
c.736T>C (p.Cys246Arg)
c.619T>C (p.Cys207Arg)
c.637T>C (p.Cys213Arg)
c.427T>C (p.Cys143Arg)
c.445T>C (p.Cys149Arg)
 dbSNP ExAC gnomAD v2
2g.127423324T>GCA348399868PROCc.451T>G (p.Cys151Gly)
c.36T>G
c.553T>G (p.Cys185Gly)
c.401-7T>G (n.401-7T>G)
n.37T>G
c.634T>G (p.Cys212Gly)
c.616T>G (p.Cys206Gly)
c.514T>G (p.Cys172Gly)
c.694T>G (p.Cys232Gly)
c.796T>G (p.Cys266Gly)
c.736T>G (p.Cys246Gly)
c.619T>G (p.Cys207Gly)
c.637T>G (p.Cys213Gly)
c.427T>G (p.Cys143Gly)
c.445T>G (p.Cys149Gly)
 dbSNP
2g.127423324T=CA1286882146PROCc.451T= (p.Cys151=)
c.36T=
c.553T= (p.Cys185=)
c.401-7T= (n.401-7T=)
n.37T=
c.634T= (p.Cys212=)
c.616T= (p.Cys206=)
c.514T= (p.Cys172=)
c.694T= (p.Cys232=)
c.796T= (p.Cys266=)
c.736T= (p.Cys246=)
c.619T= (p.Cys207=)
c.637T= (p.Cys213=)
c.427T= (p.Cys143=)
c.445T= (p.Cys149=)
2g.127423325G>ACA348399869PROCc.452G>A (p.Cys151Tyr)
c.37G>A
c.554G>A (p.Cys185Tyr)
c.401-6G>A (n.401-6G>A)
n.38G>A
c.635G>A (p.Cys212Tyr)
c.617G>A (p.Cys206Tyr)
c.515G>A (p.Cys172Tyr)
c.695G>A (p.Cys232Tyr)
c.797G>A (p.Cys266Tyr)
c.737G>A (p.Cys246Tyr)
c.620G>A (p.Cys207Tyr)
c.638G>A (p.Cys213Tyr)
c.428G>A (p.Cys143Tyr)
c.446G>A (p.Cys149Tyr)
2g.127423325G>CCA348399870PROCc.452G>C (p.Cys151Ser)
c.37G>C
c.554G>C (p.Cys185Ser)
c.401-6G>C (n.401-6G>C)
n.38G>C
c.635G>C (p.Cys212Ser)
c.617G>C (p.Cys206Ser)
c.515G>C (p.Cys172Ser)
c.695G>C (p.Cys232Ser)
c.797G>C (p.Cys266Ser)
c.737G>C (p.Cys246Ser)
c.620G>C (p.Cys207Ser)
c.638G>C (p.Cys213Ser)
c.428G>C (p.Cys143Ser)
c.446G>C (p.Cys149Ser)
2g.127423325G>TCA348399871PROCc.452G>T (p.Cys151Phe)
c.37G>T
c.554G>T (p.Cys185Phe)
c.401-6G>T (n.401-6G>T)
n.38G>T
c.635G>T (p.Cys212Phe)
c.617G>T (p.Cys206Phe)
c.515G>T (p.Cys172Phe)
c.695G>T (p.Cys232Phe)
c.797G>T (p.Cys266Phe)
c.737G>T (p.Cys246Phe)
c.620G>T (p.Cys207Phe)
c.638G>T (p.Cys213Phe)
c.428G>T (p.Cys143Phe)
c.446G>T (p.Cys149Phe)
 ClinVar gnomAD v4
2g.127423326C>ACA348399873PROCc.453C>A (p.Cys151Ter)
c.38C>A
c.555C>A (p.Cys185Ter)
c.401-5C>A (n.401-5C>A)
n.39C>A
c.636C>A (p.Cys212Ter)
c.618C>A (p.Cys206Ter)
c.516C>A (p.Cys172Ter)
c.696C>A (p.Cys232Ter)
c.798C>A (p.Cys266Ter)
c.738C>A (p.Cys246Ter)
c.621C>A (p.Cys207Ter)
c.639C>A (p.Cys213Ter)
c.429C>A (p.Cys143Ter)
c.447C>A (p.Cys149Ter)
 gnomAD v4
2g.127423326C>GCA348399874PROCc.453C>G (p.Cys151Trp)
c.38C>G
c.555C>G (p.Cys185Trp)
c.401-5C>G (n.401-5C>G)
n.39C>G
c.636C>G (p.Cys212Trp)
c.618C>G (p.Cys206Trp)
c.516C>G (p.Cys172Trp)
c.696C>G (p.Cys232Trp)
c.798C>G (p.Cys266Trp)
c.738C>G (p.Cys246Trp)
c.621C>G (p.Cys207Trp)
c.639C>G (p.Cys213Trp)
c.429C>G (p.Cys143Trp)
c.447C>G (p.Cys149Trp)
2g.127423326C>TCA428874611PROCc.453C>T (p.Cys151=)
c.38C>T
c.555C>T (p.Cys185=)
c.401-5C>T (n.401-5C>T)
n.39C>T
c.636C>T (p.Cys212=)
c.618C>T (p.Cys206=)
c.516C>T (p.Cys172=)
c.696C>T (p.Cys232=)
c.798C>T (p.Cys266=)
c.738C>T (p.Cys246=)
c.621C>T (p.Cys207=)
c.639C>T (p.Cys213=)
c.429C>T (p.Cys143=)
c.447C>T (p.Cys149=)
 gnomAD v4
2g.127423327C>ACA348399877PROCc.454C>A (p.Leu152Ile)
c.39C>A
c.556C>A (p.Leu186Ile)
c.401-4C>A (n.401-4C>A)
n.40C>A
c.637C>A (p.Leu213Ile)
c.619C>A (p.Leu207Ile)
c.517C>A (p.Leu173Ile)
c.697C>A (p.Leu233Ile)
c.799C>A (p.Leu267Ile)
c.739C>A (p.Leu247Ile)
c.622C>A (p.Leu208Ile)
c.640C>A (p.Leu214Ile)
c.430C>A (p.Leu144Ile)
c.448C>A (p.Leu150Ile)
2g.127423327C=CA1286882147PROCc.454C= (p.Leu152=)
c.39C=
c.556C= (p.Leu186=)
c.401-4C= (n.401-4C=)
n.40C=
c.637C= (p.Leu213=)
c.619C= (p.Leu207=)
c.517C= (p.Leu173=)
c.697C= (p.Leu233=)
c.799C= (p.Leu267=)
c.739C= (p.Leu247=)
c.622C= (p.Leu208=)
c.640C= (p.Leu214=)
c.430C= (p.Leu144=)
c.448C= (p.Leu150=)
2g.127423327C>GCA348399879PROCc.454C>G (p.Leu152Val)
c.39C>G
c.556C>G (p.Leu186Val)
c.401-4C>G (n.401-4C>G)
n.40C>G
c.637C>G (p.Leu213Val)
c.619C>G (p.Leu207Val)
c.517C>G (p.Leu173Val)
c.697C>G (p.Leu233Val)
c.799C>G (p.Leu267Val)
c.739C>G (p.Leu247Val)
c.622C>G (p.Leu208Val)
c.640C>G (p.Leu214Val)
c.430C>G (p.Leu144Val)
c.448C>G (p.Leu150Val)
2g.127423327C>TCA55345516PROCc.454C>T (p.Leu152=)
c.39C>T
c.556C>T (p.Leu186=)
c.401-4C>T (n.401-4C>T)
n.40C>T
c.637C>T (p.Leu213=)
c.619C>T (p.Leu207=)
c.517C>T (p.Leu173=)
c.697C>T (p.Leu233=)
c.799C>T (p.Leu267=)
c.739C>T (p.Leu247=)
c.622C>T (p.Leu208=)
c.640C>T (p.Leu214=)
c.430C>T (p.Leu144=)
c.448C>T (p.Leu150=)
 dbSNP gnomAD v3 gnomAD v4
2g.127423328T>ACA348399883PROCc.455T>A (p.Leu152Gln)
c.40T>A
c.557T>A (p.Leu186Gln)
c.401-3T>A (n.401-3T>A)
n.41T>A
c.638T>A (p.Leu213Gln)
c.620T>A (p.Leu207Gln)
c.518T>A (p.Leu173Gln)
c.698T>A (p.Leu233Gln)
c.800T>A (p.Leu267Gln)
c.740T>A (p.Leu247Gln)
c.623T>A (p.Leu208Gln)
c.641T>A (p.Leu214Gln)
c.431T>A (p.Leu144Gln)
c.449T>A (p.Leu150Gln)
2g.127423328T>CCA348399887PROCc.455T>C (p.Leu152Pro)
c.40T>C
c.557T>C (p.Leu186Pro)
c.401-3T>C (n.401-3T>C)
n.41T>C
c.638T>C (p.Leu213Pro)
c.620T>C (p.Leu207Pro)
c.518T>C (p.Leu173Pro)
c.698T>C (p.Leu233Pro)
c.800T>C (p.Leu267Pro)
c.740T>C (p.Leu247Pro)
c.623T>C (p.Leu208Pro)
c.641T>C (p.Leu214Pro)
c.431T>C (p.Leu144Pro)
c.449T>C (p.Leu150Pro)
2g.127423328T>GCA348399889PROCc.455T>G (p.Leu152Arg)
c.40T>G
c.557T>G (p.Leu186Arg)
c.401-3T>G (n.401-3T>G)
n.41T>G
c.638T>G (p.Leu213Arg)
c.620T>G (p.Leu207Arg)
c.518T>G (p.Leu173Arg)
c.698T>G (p.Leu233Arg)
c.800T>G (p.Leu267Arg)
c.740T>G (p.Leu247Arg)
c.623T>G (p.Leu208Arg)
c.641T>G (p.Leu214Arg)
c.431T>G (p.Leu144Arg)
c.449T>G (p.Leu150Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.127423328T=CA1286882148PROCc.455T= (p.Leu152=)
c.40T=
c.557T= (p.Leu186=)
c.401-3T= (n.401-3T=)
n.41T=
c.638T= (p.Leu213=)
c.620T= (p.Leu207=)
c.518T= (p.Leu173=)
c.698T= (p.Leu233=)
c.800T= (p.Leu267=)
c.740T= (p.Leu247=)
c.623T= (p.Leu208=)
c.641T= (p.Leu214=)
c.431T= (p.Leu144=)
c.449T= (p.Leu150=)
2g.127423329A>CCA348399891PROCc.456A>C (p.Leu152=)
c.41A>C
c.558A>C (p.Leu186=)
c.401-2A>C (n.401-2A>C)
n.42A>C
c.639A>C (p.Leu213=)
c.621A>C (p.Leu207=)
c.519A>C (p.Leu173=)
c.699A>C (p.Leu233=)
c.801A>C (p.Leu267=)
c.741A>C (p.Leu247=)
c.624A>C (p.Leu208=)
c.642A>C (p.Leu214=)
c.432A>C (p.Leu144=)
c.450A>C (p.Leu150=)
2g.127423329A>GCA348399893PROCc.456A>G (p.Leu152=)
c.41A>G
c.558A>G (p.Leu186=)
c.401-2A>G (n.401-2A>G)
n.42A>G
c.639A>G (p.Leu213=)
c.621A>G (p.Leu207=)
c.519A>G (p.Leu173=)
c.699A>G (p.Leu233=)
c.801A>G (p.Leu267=)
c.741A>G (p.Leu247=)
c.624A>G (p.Leu208=)
c.642A>G (p.Leu214=)
c.432A>G (p.Leu144=)
c.450A>G (p.Leu150=)
 gnomAD v4
2g.127423329A>TCA348399900PROCc.456A>T (p.Leu152=)
c.41A>T
c.558A>T (p.Leu186=)
c.401-2A>T (n.401-2A>T)
n.42A>T
c.639A>T (p.Leu213=)
c.621A>T (p.Leu207=)
c.519A>T (p.Leu173=)
c.699A>T (p.Leu233=)
c.801A>T (p.Leu267=)
c.741A>T (p.Leu247=)
c.624A>T (p.Leu208=)
c.642A>T (p.Leu214=)
c.432A>T (p.Leu144=)
c.450A>T (p.Leu150=)
2g.127423330G>ACA348399904PROCc.457G>A (p.Glu153Lys)
c.42G>A
c.559G>A (p.Glu187Lys)
c.401-1G>A (n.401-1G>A)
n.43G>A
c.640G>A (p.Glu214Lys)
c.622G>A (p.Glu208Lys)
c.520G>A (p.Glu174Lys)
c.700G>A (p.Glu234Lys)
c.802G>A (p.Glu268Lys)
c.742G>A (p.Glu248Lys)
c.625G>A (p.Glu209Lys)
c.643G>A (p.Glu215Lys)
c.433G>A (p.Glu145Lys)
c.451G>A (p.Glu151Lys)
 gnomAD v4
2g.127423330G>CCA348399905PROCc.457G>C (p.Glu153Gln)
c.42G>C
c.559G>C (p.Glu187Gln)
c.401-1G>C (n.401-1G>C)
n.43G>C
c.640G>C (p.Glu214Gln)
c.622G>C (p.Glu208Gln)
c.520G>C (p.Glu174Gln)
c.700G>C (p.Glu234Gln)
c.802G>C (p.Glu268Gln)
c.742G>C (p.Glu248Gln)
c.625G>C (p.Glu209Gln)
c.643G>C (p.Glu215Gln)
c.433G>C (p.Glu145Gln)
c.451G>C (p.Glu151Gln)
2g.127423330G>TCA348399906PROCc.457G>T (p.Glu153Ter)
c.42G>T
c.559G>T (p.Glu187Ter)
c.401-1G>T (n.401-1G>T)
n.43G>T
c.640G>T (p.Glu214Ter)
c.622G>T (p.Glu208Ter)
c.520G>T (p.Glu174Ter)
c.700G>T (p.Glu234Ter)
c.802G>T (p.Glu268Ter)
c.742G>T (p.Glu248Ter)
c.625G>T (p.Glu209Ter)
c.643G>T (p.Glu215Ter)
c.433G>T (p.Glu145Ter)
c.451G>T (p.Glu151Ter)
 gnomAD v4
2g.127423334_127423336delCA2586969860PROCc.461_463del (p.Glu154del)
c.46_48del
c.563_565del (p.Glu188del)
c.404_406del
n.47_49del
c.644_646del (p.Glu215del)
c.626_628del (p.Glu209del)
c.524_526del (p.Glu175del)
c.704_706del (p.Glu235del)
c.806_808del (p.Glu269del)
c.746_748del (p.Glu249del)
c.629_631del (p.Glu210del)
c.647_649del (p.Glu216del)
c.437_439del (p.Glu146del)
c.455_457del (p.Glu152del)
 gnomAD v4
2g.127423331A>CCA348399912PROCc.458A>C (p.Glu153Ala)
c.43A>C
c.560A>C (p.Glu187Ala)
c.401A>C (p.Glu134Ala)
n.44A>C
c.641A>C (p.Glu214Ala)
c.623A>C (p.Glu208Ala)
c.521A>C (p.Glu174Ala)
c.701A>C (p.Glu234Ala)
c.803A>C (p.Glu268Ala)
c.743A>C (p.Glu248Ala)
c.626A>C (p.Glu209Ala)
c.644A>C (p.Glu215Ala)
c.434A>C (p.Glu145Ala)
c.452A>C (p.Glu151Ala)
2g.127423331A>GCA348399910PROCc.458A>G (p.Glu153Gly)
c.43A>G
c.560A>G (p.Glu187Gly)
c.401A>G (p.Glu134Gly)
n.44A>G
c.641A>G (p.Glu214Gly)
c.623A>G (p.Glu208Gly)
c.521A>G (p.Glu174Gly)
c.701A>G (p.Glu234Gly)
c.803A>G (p.Glu268Gly)
c.743A>G (p.Glu248Gly)
c.626A>G (p.Glu209Gly)
c.644A>G (p.Glu215Gly)
c.434A>G (p.Glu145Gly)
c.452A>G (p.Glu151Gly)
 gnomAD v4
2g.127423331A>TCA348399907PROCc.458A>T (p.Glu153Val)
c.43A>T
c.560A>T (p.Glu187Val)
c.401A>T (p.Glu134Val)
n.44A>T
c.641A>T (p.Glu214Val)
c.623A>T (p.Glu208Val)
c.521A>T (p.Glu174Val)
c.701A>T (p.Glu234Val)
c.803A>T (p.Glu268Val)
c.743A>T (p.Glu248Val)
c.626A>T (p.Glu209Val)
c.644A>T (p.Glu215Val)
c.434A>T (p.Glu145Val)
c.452A>T (p.Glu151Val)
2g.127423332G>ACA428874631PROCc.459G>A (p.Glu153=)
c.44G>A
c.561G>A (p.Glu187=)
c.402G>A (p.Glu134=)
n.45G>A
c.642G>A (p.Glu214=)
c.624G>A (p.Glu208=)
c.522G>A (p.Glu174=)
c.702G>A (p.Glu234=)
c.804G>A (p.Glu268=)
c.744G>A (p.Glu248=)
c.627G>A (p.Glu209=)
c.645G>A (p.Glu215=)
c.435G>A (p.Glu145=)
c.453G>A (p.Glu151=)
 gnomAD v4
2g.127423332G>CCA348399915PROCc.459G>C (p.Glu153Asp)
c.44G>C
c.561G>C (p.Glu187Asp)
c.402G>C (p.Glu134Asp)
n.45G>C
c.642G>C (p.Glu214Asp)
c.624G>C (p.Glu208Asp)
c.522G>C (p.Glu174Asp)
c.702G>C (p.Glu234Asp)
c.804G>C (p.Glu268Asp)
c.744G>C (p.Glu248Asp)
c.627G>C (p.Glu209Asp)
c.645G>C (p.Glu215Asp)
c.435G>C (p.Glu145Asp)
c.453G>C (p.Glu151Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.127423332G>TCA348399917PROCc.459G>T (p.Glu153Asp)
c.44G>T
c.561G>T (p.Glu187Asp)
c.402G>T (p.Glu134Asp)
n.45G>T
c.642G>T (p.Glu214Asp)
c.624G>T (p.Glu208Asp)
c.522G>T (p.Glu174Asp)
c.702G>T (p.Glu234Asp)
c.804G>T (p.Glu268Asp)
c.744G>T (p.Glu248Asp)
c.627G>T (p.Glu209Asp)
c.645G>T (p.Glu215Asp)
c.435G>T (p.Glu145Asp)
c.453G>T (p.Glu151Asp)
2g.127423333G>ACA348399920PROCc.460G>A (p.Glu154Lys)
c.45G>A
c.562G>A (p.Glu188Lys)
c.403G>A (p.Glu135Lys)
n.46G>A
c.643G>A (p.Glu215Lys)
c.625G>A (p.Glu209Lys)
c.523G>A (p.Glu175Lys)
c.703G>A (p.Glu235Lys)
c.805G>A (p.Glu269Lys)
c.745G>A (p.Glu249Lys)
c.628G>A (p.Glu210Lys)
c.646G>A (p.Glu216Lys)
c.436G>A (p.Glu146Lys)
c.454G>A (p.Glu152Lys)
 dbSNP
2g.127423333G>CCA348399922PROCc.460G>C (p.Glu154Gln)
c.45G>C
c.562G>C (p.Glu188Gln)
c.403G>C (p.Glu135Gln)
n.46G>C
c.643G>C (p.Glu215Gln)
c.625G>C (p.Glu209Gln)
c.523G>C (p.Glu175Gln)
c.703G>C (p.Glu235Gln)
c.805G>C (p.Glu269Gln)
c.745G>C (p.Glu249Gln)
c.628G>C (p.Glu210Gln)
c.646G>C (p.Glu216Gln)
c.436G>C (p.Glu146Gln)
c.454G>C (p.Glu152Gln)
2g.127423333G=CA1286882149PROCc.460G= (p.Glu154=)
c.45G=
c.562G= (p.Glu188=)
c.403G= (p.Glu135=)
n.46G=
c.643G= (p.Glu215=)
c.625G= (p.Glu209=)
c.523G= (p.Glu175=)
c.703G= (p.Glu235=)
c.805G= (p.Glu269=)
c.745G= (p.Glu249=)
c.628G= (p.Glu210=)
c.646G= (p.Glu216=)
c.436G= (p.Glu146=)
c.454G= (p.Glu152=)
2g.127423333G>TCA348399925PROCc.460G>T (p.Glu154Ter)
c.45G>T
c.562G>T (p.Glu188Ter)
c.403G>T (p.Glu135Ter)
n.46G>T
c.643G>T (p.Glu215Ter)
c.625G>T (p.Glu209Ter)
c.523G>T (p.Glu175Ter)
c.703G>T (p.Glu235Ter)
c.805G>T (p.Glu269Ter)
c.745G>T (p.Glu249Ter)
c.628G>T (p.Glu210Ter)
c.646G>T (p.Glu216Ter)
c.436G>T (p.Glu146Ter)
c.454G>T (p.Glu152Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.127423334A>CCA348399928PROCc.461A>C (p.Glu154Ala)
c.46A>C
c.563A>C (p.Glu188Ala)
c.404A>C (p.Glu135Ala)
n.47A>C
c.644A>C (p.Glu215Ala)
c.626A>C (p.Glu209Ala)
c.524A>C (p.Glu175Ala)
c.704A>C (p.Glu235Ala)
c.806A>C (p.Glu269Ala)
c.746A>C (p.Glu249Ala)
c.629A>C (p.Glu210Ala)
c.647A>C (p.Glu216Ala)
c.437A>C (p.Glu146Ala)
c.455A>C (p.Glu152Ala)
2g.127423334A>GCA348399929PROCc.461A>G (p.Glu154Gly)
c.46A>G
c.563A>G (p.Glu188Gly)
c.404A>G (p.Glu135Gly)
n.47A>G
c.644A>G (p.Glu215Gly)
c.626A>G (p.Glu209Gly)
c.524A>G (p.Glu175Gly)
c.704A>G (p.Glu235Gly)
c.806A>G (p.Glu269Gly)
c.746A>G (p.Glu249Gly)
c.629A>G (p.Glu210Gly)
c.647A>G (p.Glu216Gly)
c.437A>G (p.Glu146Gly)
c.455A>G (p.Glu152Gly)
2g.127423334A>TCA348399930PROCc.461A>T (p.Glu154Val)
c.46A>T
c.563A>T (p.Glu188Val)
c.404A>T (p.Glu135Val)
n.47A>T
c.644A>T (p.Glu215Val)
c.626A>T (p.Glu209Val)
c.524A>T (p.Glu175Val)
c.704A>T (p.Glu235Val)
c.806A>T (p.Glu269Val)
c.746A>T (p.Glu249Val)
c.629A>T (p.Glu210Val)
c.647A>T (p.Glu216Val)
c.437A>T (p.Glu146Val)
c.455A>T (p.Glu152Val)
2g.127423335G>ACA1859355PROCc.462G>A (p.Glu154=)
c.47G>A
c.564G>A (p.Glu188=)
c.405G>A (p.Glu135=)
n.48G>A
c.645G>A (p.Glu215=)
c.627G>A (p.Glu209=)
c.525G>A (p.Glu175=)
c.705G>A (p.Glu235=)
c.807G>A (p.Glu269=)
c.747G>A (p.Glu249=)
c.630G>A (p.Glu210=)
c.648G>A (p.Glu216=)
c.438G>A (p.Glu146=)
c.456G>A (p.Glu152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127423335G>CCA348399931PROCc.462G>C (p.Glu154Asp)
c.47G>C
c.564G>C (p.Glu188Asp)
c.405G>C (p.Glu135Asp)
n.48G>C
c.645G>C (p.Glu215Asp)
c.627G>C (p.Glu209Asp)
c.525G>C (p.Glu175Asp)
c.705G>C (p.Glu235Asp)
c.807G>C (p.Glu269Asp)
c.747G>C (p.Glu249Asp)
c.630G>C (p.Glu210Asp)
c.648G>C (p.Glu216Asp)
c.438G>C (p.Glu146Asp)
c.456G>C (p.Glu152Asp)
2g.127423335G=CA1286882150PROCc.462G= (p.Glu154=)
c.47G=
c.564G= (p.Glu188=)
c.405G= (p.Glu135=)
n.48G=
c.645G= (p.Glu215=)
c.627G= (p.Glu209=)
c.525G= (p.Glu175=)
c.705G= (p.Glu235=)
c.807G= (p.Glu269=)
c.747G= (p.Glu249=)
c.630G= (p.Glu210=)
c.648G= (p.Glu216=)
c.438G= (p.Glu146=)
c.456G= (p.Glu152=)
2g.127423335G>TCA348399940PROCc.462G>T (p.Glu154Asp)
c.47G>T
c.564G>T (p.Glu188Asp)
c.405G>T (p.Glu135Asp)
n.48G>T
c.645G>T (p.Glu215Asp)
c.627G>T (p.Glu209Asp)
c.525G>T (p.Glu175Asp)
c.705G>T (p.Glu235Asp)
c.807G>T (p.Glu269Asp)
c.747G>T (p.Glu249Asp)
c.630G>T (p.Glu210Asp)
c.648G>T (p.Glu216Asp)
c.438G>T (p.Glu146Asp)
c.456G>T (p.Glu152Asp)
 gnomAD v4
2g.127423336G>ACA348399942PROCc.463G>A (p.Val155Met)
c.48G>A
c.565G>A (p.Val189Met)
c.406G>A (p.Val136Met)
n.49G>A
c.646G>A (p.Val216Met)
c.628G>A (p.Val210Met)
c.526G>A (p.Val176Met)
c.706G>A (p.Val236Met)
c.808G>A (p.Val270Met)
c.748G>A (p.Val250Met)
c.631G>A (p.Val211Met)
c.649G>A (p.Val217Met)
c.439G>A (p.Val147Met)
c.457G>A (p.Val153Met)
 gnomAD v4
2g.127423336G>CCA348399945PROCc.463G>C (p.Val155Leu)
c.48G>C
c.565G>C (p.Val189Leu)
c.406G>C (p.Val136Leu)
n.49G>C
c.646G>C (p.Val216Leu)
c.628G>C (p.Val210Leu)
c.526G>C (p.Val176Leu)
c.706G>C (p.Val236Leu)
c.808G>C (p.Val270Leu)
c.748G>C (p.Val250Leu)
c.631G>C (p.Val211Leu)
c.649G>C (p.Val217Leu)
c.439G>C (p.Val147Leu)
c.457G>C (p.Val153Leu)
 gnomAD v4
2g.127423336G>TCA348399947PROCc.463G>T (p.Val155Leu)
c.48G>T
c.565G>T (p.Val189Leu)
c.406G>T (p.Val136Leu)
n.49G>T
c.646G>T (p.Val216Leu)
c.628G>T (p.Val210Leu)
c.526G>T (p.Val176Leu)
c.706G>T (p.Val236Leu)
c.808G>T (p.Val270Leu)
c.748G>T (p.Val250Leu)
c.631G>T (p.Val211Leu)
c.649G>T (p.Val217Leu)
c.439G>T (p.Val147Leu)
c.457G>T (p.Val153Leu)
2g.127423337T>ACA348399957PROCc.464T>A (p.Val155Glu)
c.49T>A
c.566T>A (p.Val189Glu)
c.407T>A (p.Val136Glu)
n.50T>A
c.647T>A (p.Val216Glu)
c.629T>A (p.Val210Glu)
c.527T>A (p.Val176Glu)
c.707T>A (p.Val236Glu)
c.809T>A (p.Val270Glu)
c.749T>A (p.Val250Glu)
c.632T>A (p.Val211Glu)
c.650T>A (p.Val217Glu)
c.440T>A (p.Val147Glu)
c.458T>A (p.Val153Glu)
 gnomAD v4
2g.127423337T>CCA348399955PROCc.464T>C (p.Val155Ala)
c.49T>C
c.566T>C (p.Val189Ala)
c.407T>C (p.Val136Ala)
n.50T>C
c.647T>C (p.Val216Ala)
c.629T>C (p.Val210Ala)
c.527T>C (p.Val176Ala)
c.707T>C (p.Val236Ala)
c.809T>C (p.Val270Ala)
c.749T>C (p.Val250Ala)
c.632T>C (p.Val211Ala)
c.650T>C (p.Val217Ala)
c.440T>C (p.Val147Ala)
c.458T>C (p.Val153Ala)
2g.127423337T>GCA348399952PROCc.464T>G (p.Val155Gly)
c.49T>G
c.566T>G (p.Val189Gly)
c.407T>G (p.Val136Gly)
n.50T>G
c.647T>G (p.Val216Gly)
c.629T>G (p.Val210Gly)
c.527T>G (p.Val176Gly)
c.707T>G (p.Val236Gly)
c.809T>G (p.Val270Gly)
c.749T>G (p.Val250Gly)
c.632T>G (p.Val211Gly)
c.650T>G (p.Val217Gly)
c.440T>G (p.Val147Gly)
c.458T>G (p.Val153Gly)
2g.127423338G>ACA428874654PROCc.465G>A (p.Val155=)
c.50G>A
c.567G>A (p.Val189=)
c.408G>A (p.Val136=)
n.51G>A
c.648G>A (p.Val216=)
c.630G>A (p.Val210=)
c.528G>A (p.Val176=)
c.708G>A (p.Val236=)
c.810G>A (p.Val270=)
c.750G>A (p.Val250=)
c.633G>A (p.Val211=)
c.651G>A (p.Val217=)
c.441G>A (p.Val147=)
c.459G>A (p.Val153=)
 gnomAD v4
2g.127423338G>CCA428874656PROCc.465G>C (p.Val155=)
c.50G>C
c.567G>C (p.Val189=)
c.408G>C (p.Val136=)
n.51G>C
c.648G>C (p.Val216=)
c.630G>C (p.Val210=)
c.528G>C (p.Val176=)
c.708G>C (p.Val236=)
c.810G>C (p.Val270=)
c.750G>C (p.Val250=)
c.633G>C (p.Val211=)
c.651G>C (p.Val217=)
c.441G>C (p.Val147=)
c.459G>C (p.Val153=)
2g.127423338G>TCA428874659PROCc.465G>T (p.Val155=)
c.50G>T
c.567G>T (p.Val189=)
c.408G>T (p.Val136=)
n.51G>T
c.648G>T (p.Val216=)
c.630G>T (p.Val210=)
c.528G>T (p.Val176=)
c.708G>T (p.Val236=)
c.810G>T (p.Val270=)
c.750G>T (p.Val250=)
c.633G>T (p.Val211=)
c.651G>T (p.Val217=)
c.441G>T (p.Val147=)
c.459G>T (p.Val153=)
 gnomAD v4
2g.127423339G>ACA348399958PROCc.466G>A (p.Gly156Ser)
c.51G>A
c.568G>A (p.Gly190Ser)
c.409G>A (p.Gly137Ser)
n.52G>A
c.649G>A (p.Gly217Ser)
c.631G>A (p.Gly211Ser)
c.529G>A (p.Gly177Ser)
c.709G>A (p.Gly237Ser)
c.811G>A (p.Gly271Ser)
c.751G>A (p.Gly251Ser)
c.634G>A (p.Gly212Ser)
c.652G>A (p.Gly218Ser)
c.442G>A (p.Gly148Ser)
c.460G>A (p.Gly154Ser)
 gnomAD v4
2g.127423339G>CCA348399959PROCc.466G>C (p.Gly156Arg)
c.51G>C
c.568G>C (p.Gly190Arg)
c.409G>C (p.Gly137Arg)
n.52G>C
c.649G>C (p.Gly217Arg)
c.631G>C (p.Gly211Arg)
c.529G>C (p.Gly177Arg)
c.709G>C (p.Gly237Arg)
c.811G>C (p.Gly271Arg)
c.751G>C (p.Gly251Arg)
c.634G>C (p.Gly212Arg)
c.652G>C (p.Gly218Arg)
c.442G>C (p.Gly148Arg)
c.460G>C (p.Gly154Arg)
2g.127423339G>TCA348399961PROCc.466G>T (p.Gly156Cys)
c.51G>T
c.568G>T (p.Gly190Cys)
c.409G>T (p.Gly137Cys)
n.52G>T
c.649G>T (p.Gly217Cys)
c.631G>T (p.Gly211Cys)
c.529G>T (p.Gly177Cys)
c.709G>T (p.Gly237Cys)
c.811G>T (p.Gly271Cys)
c.751G>T (p.Gly251Cys)
c.634G>T (p.Gly212Cys)
c.652G>T (p.Gly218Cys)
c.442G>T (p.Gly148Cys)
c.460G>T (p.Gly154Cys)
 gnomAD v4
2g.127423340G>ACA348399973PROCc.467G>A (p.Gly156Asp)
c.52G>A
c.569G>A (p.Gly190Asp)
c.410G>A (p.Gly137Asp)
n.53G>A
c.650G>A (p.Gly217Asp)
c.632G>A (p.Gly211Asp)
c.530G>A (p.Gly177Asp)
c.710G>A (p.Gly237Asp)
c.812G>A (p.Gly271Asp)
c.752G>A (p.Gly251Asp)
c.635G>A (p.Gly212Asp)
c.653G>A (p.Gly218Asp)
c.443G>A (p.Gly148Asp)
c.461G>A (p.Gly154Asp)
 dbSNP gnomAD v4
2g.127423340G>CCA348399974PROCc.467G>C (p.Gly156Ala)
c.52G>C
c.569G>C (p.Gly190Ala)
c.410G>C (p.Gly137Ala)
n.53G>C
c.650G>C (p.Gly217Ala)
c.632G>C (p.Gly211Ala)
c.530G>C (p.Gly177Ala)
c.710G>C (p.Gly237Ala)
c.812G>C (p.Gly271Ala)
c.752G>C (p.Gly251Ala)
c.635G>C (p.Gly212Ala)
c.653G>C (p.Gly218Ala)
c.443G>C (p.Gly148Ala)
c.461G>C (p.Gly154Ala)
2g.127423340G=CA1286882151PROCc.467G= (p.Gly156=)
c.52G=
c.569G= (p.Gly190=)
c.410G= (p.Gly137=)
n.53G=
c.650G= (p.Gly217=)
c.632G= (p.Gly211=)
c.530G= (p.Gly177=)
c.710G= (p.Gly237=)
c.812G= (p.Gly271=)
c.752G= (p.Gly251=)
c.635G= (p.Gly212=)
c.653G= (p.Gly218=)
c.443G= (p.Gly148=)
c.461G= (p.Gly154=)
2g.127423340G>TCA348399977PROCc.467G>T (p.Gly156Val)
c.52G>T
c.569G>T (p.Gly190Val)
c.410G>T (p.Gly137Val)
n.53G>T
c.650G>T (p.Gly217Val)
c.632G>T (p.Gly211Val)
c.530G>T (p.Gly177Val)
c.710G>T (p.Gly237Val)
c.812G>T (p.Gly271Val)
c.752G>T (p.Gly251Val)
c.635G>T (p.Gly212Val)
c.653G>T (p.Gly218Val)
c.443G>T (p.Gly148Val)
c.461G>T (p.Gly154Val)
 gnomAD v4
2g.127423341C>ACA428874670PROCc.468C>A (p.Gly156=)
c.53C>A
c.570C>A (p.Gly190=)
c.411C>A (p.Gly137=)
n.54C>A
c.651C>A (p.Gly217=)
c.633C>A (p.Gly211=)
c.531C>A (p.Gly177=)
c.711C>A (p.Gly237=)
c.813C>A (p.Gly271=)
c.753C>A (p.Gly251=)
c.636C>A (p.Gly212=)
c.654C>A (p.Gly218=)
c.444C>A (p.Gly148=)
c.462C>A (p.Gly154=)
 gnomAD v4
2g.127423341C=CA1286882152PROCc.468C= (p.Gly156=)
c.53C=
c.570C= (p.Gly190=)
c.411C= (p.Gly137=)
n.54C=
c.651C= (p.Gly217=)
c.633C= (p.Gly211=)
c.531C= (p.Gly177=)
c.711C= (p.Gly237=)
c.813C= (p.Gly271=)
c.753C= (p.Gly251=)
c.636C= (p.Gly212=)
c.654C= (p.Gly218=)
c.444C= (p.Gly148=)
c.462C= (p.Gly154=)
2g.127423341C>GCA1859356PROCc.468C>G (p.Gly156=)
c.53C>G
c.570C>G (p.Gly190=)
c.411C>G (p.Gly137=)
n.54C>G
c.651C>G (p.Gly217=)
c.633C>G (p.Gly211=)
c.531C>G (p.Gly177=)
c.711C>G (p.Gly237=)
c.813C>G (p.Gly271=)
c.753C>G (p.Gly251=)
c.636C>G (p.Gly212=)
c.654C>G (p.Gly218=)
c.444C>G (p.Gly148=)
c.462C>G (p.Gly154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127423341C>TCA428874672PROCc.468C>T (p.Gly156=)
c.53C>T
c.570C>T (p.Gly190=)
c.411C>T (p.Gly137=)
n.54C>T
c.651C>T (p.Gly217=)
c.633C>T (p.Gly211=)
c.531C>T (p.Gly177=)
c.711C>T (p.Gly237=)
c.813C>T (p.Gly271=)
c.753C>T (p.Gly251=)
c.636C>T (p.Gly212=)
c.654C>T (p.Gly218=)
c.444C>T (p.Gly148=)
c.462C>T (p.Gly154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.127423342T>ACA348399979PROCc.469T>A (p.Trp157Arg)
c.54T>A
c.571T>A (p.Trp191Arg)
c.412T>A (p.Trp138Arg)
n.55T>A
c.652T>A (p.Trp218Arg)
c.634T>A (p.Trp212Arg)
c.532T>A (p.Trp178Arg)
c.712T>A (p.Trp238Arg)
c.814T>A (p.Trp272Arg)
c.754T>A (p.Trp252Arg)
c.637T>A (p.Trp213Arg)
c.655T>A (p.Trp219Arg)
c.445T>A (p.Trp149Arg)
c.463T>A (p.Trp155Arg)
2g.127423342T>CCA348399981PROCc.469T>C (p.Trp157Arg)
c.54T>C
c.571T>C (p.Trp191Arg)
c.412T>C (p.Trp138Arg)
n.55T>C
c.652T>C (p.Trp218Arg)
c.634T>C (p.Trp212Arg)
c.532T>C (p.Trp178Arg)
c.712T>C (p.Trp238Arg)
c.814T>C (p.Trp272Arg)
c.754T>C (p.Trp252Arg)
c.637T>C (p.Trp213Arg)
c.655T>C (p.Trp219Arg)
c.445T>C (p.Trp149Arg)
c.463T>C (p.Trp155Arg)
2g.127423342T>GCA348399982PROCc.469T>G (p.Trp157Gly)
c.54T>G
c.571T>G (p.Trp191Gly)
c.412T>G (p.Trp138Gly)
n.55T>G
c.652T>G (p.Trp218Gly)
c.634T>G (p.Trp212Gly)
c.532T>G (p.Trp178Gly)
c.712T>G (p.Trp238Gly)
c.814T>G (p.Trp272Gly)
c.754T>G (p.Trp252Gly)
c.637T>G (p.Trp213Gly)
c.655T>G (p.Trp219Gly)
c.445T>G (p.Trp149Gly)
c.463T>G (p.Trp155Gly)
2g.127423343G>ACA348399983PROCc.470G>A (p.Trp157Ter)
c.55G>A
c.572G>A (p.Trp191Ter)
c.413G>A (p.Trp138Ter)
n.56G>A
c.653G>A (p.Trp218Ter)
c.635G>A (p.Trp212Ter)
c.533G>A (p.Trp178Ter)
c.713G>A (p.Trp238Ter)
c.815G>A (p.Trp272Ter)
c.755G>A (p.Trp252Ter)
c.638G>A (p.Trp213Ter)
c.656G>A (p.Trp219Ter)
c.446G>A (p.Trp149Ter)
c.464G>A (p.Trp155Ter)
 gnomAD v4
2g.127423343G>CCA348399984PROCc.470G>C (p.Trp157Ser)
c.55G>C
c.572G>C (p.Trp191Ser)
c.413G>C (p.Trp138Ser)
n.56G>C
c.653G>C (p.Trp218Ser)
c.635G>C (p.Trp212Ser)
c.533G>C (p.Trp178Ser)
c.713G>C (p.Trp238Ser)
c.815G>C (p.Trp272Ser)
c.755G>C (p.Trp252Ser)
c.638G>C (p.Trp213Ser)
c.656G>C (p.Trp219Ser)
c.446G>C (p.Trp149Ser)
c.464G>C (p.Trp155Ser)
2g.127423343G>TCA348399985PROCc.470G>T (p.Trp157Leu)
c.55G>T
c.572G>T (p.Trp191Leu)
c.413G>T (p.Trp138Leu)
n.56G>T
c.653G>T (p.Trp218Leu)
c.635G>T (p.Trp212Leu)
c.533G>T (p.Trp178Leu)
c.713G>T (p.Trp238Leu)
c.815G>T (p.Trp272Leu)
c.755G>T (p.Trp252Leu)
c.638G>T (p.Trp213Leu)
c.656G>T (p.Trp219Leu)
c.446G>T (p.Trp149Leu)
c.464G>T (p.Trp155Leu)
 gnomAD v4
2g.127423344G>ACA348399991PROCc.471G>A (p.Trp157Ter)
c.56G>A
c.573G>A (p.Trp191Ter)
c.414G>A (p.Trp138Ter)
n.57G>A
c.654G>A (p.Trp218Ter)
c.636G>A (p.Trp212Ter)
c.534G>A (p.Trp178Ter)
c.714G>A (p.Trp238Ter)
c.816G>A (p.Trp272Ter)
c.756G>A (p.Trp252Ter)
c.639G>A (p.Trp213Ter)
c.657G>A (p.Trp219Ter)
c.447G>A (p.Trp149Ter)
c.465G>A (p.Trp155Ter)
2g.127423344G>CCA348399989PROCc.471G>C (p.Trp157Cys)
c.56G>C
c.573G>C (p.Trp191Cys)
c.414G>C (p.Trp138Cys)
n.57G>C
c.654G>C (p.Trp218Cys)
c.636G>C (p.Trp212Cys)
c.534G>C (p.Trp178Cys)
c.714G>C (p.Trp238Cys)
c.816G>C (p.Trp272Cys)
c.756G>C (p.Trp252Cys)
c.639G>C (p.Trp213Cys)
c.657G>C (p.Trp219Cys)
c.447G>C (p.Trp149Cys)
c.465G>C (p.Trp155Cys)
2g.127423344G>TCA348399987PROCc.471G>T (p.Trp157Cys)
c.56G>T
c.573G>T (p.Trp191Cys)
c.414G>T (p.Trp138Cys)
n.57G>T
c.654G>T (p.Trp218Cys)
c.636G>T (p.Trp212Cys)
c.534G>T (p.Trp178Cys)
c.714G>T (p.Trp238Cys)
c.816G>T (p.Trp272Cys)
c.756G>T (p.Trp252Cys)
c.639G>T (p.Trp213Cys)
c.657G>T (p.Trp219Cys)
c.447G>T (p.Trp149Cys)
c.465G>T (p.Trp155Cys)
2g.127423345delCA2586969861PROCc.472del (p.Arg158GlyfsTer22)
c.57del
c.574del (p.Arg192GlyfsTer22)
c.415del (p.Arg139GlyfsTer22)
n.58del
c.655del (p.Arg219GlyfsTer22)
c.637del (p.Arg213GlyfsTer22)
c.535del (p.Arg179GlyfsTer22)
c.715del (p.Arg239GlyfsTer22)
c.817del (p.Arg273GlyfsTer22)
c.757del (p.Arg253GlyfsTer22)
c.640del (p.Arg214GlyfsTer22)
c.658del (p.Arg220GlyfsTer22)
c.448del (p.Arg150GlyfsTer22)
c.466del (p.Arg156GlyfsTer22)
2g.127423345C>ACA428874688PROCc.472C>A (p.Arg158=)
c.57C>A
c.574C>A (p.Arg192=)
c.415C>A (p.Arg139=)
n.58C>A
c.655C>A (p.Arg219=)
c.637C>A (p.Arg213=)
c.535C>A (p.Arg179=)
c.715C>A (p.Arg239=)
c.817C>A (p.Arg273=)
c.757C>A (p.Arg253=)
c.640C>A (p.Arg214=)
c.658C>A (p.Arg220=)
c.448C>A (p.Arg150=)
c.466C>A (p.Arg156=)
 gnomAD v4
2g.127423345C>GCA348399994PROCc.472C>G (p.Arg158Gly)
c.57C>G
c.574C>G (p.Arg192Gly)
c.415C>G (p.Arg139Gly)
n.58C>G
c.655C>G (p.Arg219Gly)
c.637C>G (p.Arg213Gly)
c.535C>G (p.Arg179Gly)
c.715C>G (p.Arg239Gly)
c.817C>G (p.Arg273Gly)
c.757C>G (p.Arg253Gly)
c.640C>G (p.Arg214Gly)
c.658C>G (p.Arg220Gly)
c.448C>G (p.Arg150Gly)
c.466C>G (p.Arg156Gly)
2g.127423345C>TCA348399996PROCc.472C>T (p.Arg158Trp)
c.57C>T
c.574C>T (p.Arg192Trp)
c.415C>T (p.Arg139Trp)
n.58C>T
c.655C>T (p.Arg219Trp)
c.637C>T (p.Arg213Trp)
c.535C>T (p.Arg179Trp)
c.715C>T (p.Arg239Trp)
c.817C>T (p.Arg273Trp)
c.757C>T (p.Arg253Trp)
c.640C>T (p.Arg214Trp)
c.658C>T (p.Arg220Trp)
c.448C>T (p.Arg150Trp)
c.466C>T (p.Arg156Trp)
 ClinVar dbSNP gnomAD v4
2g.127423346G>ACA348399997PROCc.473G>A (p.Arg158Gln)
c.58G>A
c.575G>A (p.Arg192Gln)
c.416G>A (p.Arg139Gln)
n.59G>A
c.656G>A (p.Arg219Gln)
c.638G>A (p.Arg213Gln)
c.536G>A (p.Arg179Gln)
c.716G>A (p.Arg239Gln)
c.818G>A (p.Arg273Gln)
c.758G>A (p.Arg253Gln)
c.641G>A (p.Arg214Gln)
c.659G>A (p.Arg220Gln)
c.449G>A (p.Arg150Gln)
c.467G>A (p.Arg156Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.127423346G>CCA348400000PROCc.473G>C (p.Arg158Pro)
c.58G>C
c.575G>C (p.Arg192Pro)
c.416G>C (p.Arg139Pro)
n.59G>C
c.656G>C (p.Arg219Pro)
c.638G>C (p.Arg213Pro)
c.536G>C (p.Arg179Pro)
c.716G>C (p.Arg239Pro)
c.818G>C (p.Arg273Pro)
c.758G>C (p.Arg253Pro)
c.641G>C (p.Arg214Pro)
c.659G>C (p.Arg220Pro)
c.449G>C (p.Arg150Pro)
c.467G>C (p.Arg156Pro)
2g.127423346G=CA1286882153PROCc.473G= (p.Arg158=)
c.58G=
c.575G= (p.Arg192=)
c.416G= (p.Arg139=)
n.59G=
c.656G= (p.Arg219=)
c.638G= (p.Arg213=)
c.536G= (p.Arg179=)
c.716G= (p.Arg239=)
c.818G= (p.Arg273=)
c.758G= (p.Arg253=)
c.641G= (p.Arg214=)
c.659G= (p.Arg220=)
c.449G= (p.Arg150=)
c.467G= (p.Arg156=)
2g.127423346G>TCA348399998PROCc.473G>T (p.Arg158Leu)
c.58G>T
c.575G>T (p.Arg192Leu)
c.416G>T (p.Arg139Leu)
n.59G>T
c.656G>T (p.Arg219Leu)
c.638G>T (p.Arg213Leu)
c.536G>T (p.Arg179Leu)
c.716G>T (p.Arg239Leu)
c.818G>T (p.Arg273Leu)
c.758G>T (p.Arg253Leu)
c.641G>T (p.Arg214Leu)
c.659G>T (p.Arg220Leu)
c.449G>T (p.Arg150Leu)
c.467G>T (p.Arg156Leu)
2g.127423347G>ACA428874698PROCc.474G>A (p.Arg158=)
c.59G>A
c.576G>A (p.Arg192=)
c.417G>A (p.Arg139=)
n.60G>A
c.657G>A (p.Arg219=)
c.639G>A (p.Arg213=)
c.537G>A (p.Arg179=)
c.717G>A (p.Arg239=)
c.819G>A (p.Arg273=)
c.759G>A (p.Arg253=)
c.642G>A (p.Arg214=)
c.660G>A (p.Arg220=)
c.450G>A (p.Arg150=)
c.468G>A (p.Arg156=)
 gnomAD v4
2g.127423347G>CCA428874700PROCc.474G>C (p.Arg158=)
c.59G>C
c.576G>C (p.Arg192=)
c.417G>C (p.Arg139=)
n.60G>C
c.657G>C (p.Arg219=)
c.639G>C (p.Arg213=)
c.537G>C (p.Arg179=)
c.717G>C (p.Arg239=)
c.819G>C (p.Arg273=)
c.759G>C (p.Arg253=)
c.642G>C (p.Arg214=)
c.660G>C (p.Arg220=)
c.450G>C (p.Arg150=)
c.468G>C (p.Arg156=)
2g.127423347G>TCA428874703PROCc.474G>T (p.Arg158=)
c.59G>T
c.576G>T (p.Arg192=)
c.417G>T (p.Arg139=)
n.60G>T
c.657G>T (p.Arg219=)
c.639G>T (p.Arg213=)
c.537G>T (p.Arg179=)
c.717G>T (p.Arg239=)
c.819G>T (p.Arg273=)
c.759G>T (p.Arg253=)
c.642G>T (p.Arg214=)
c.660G>T (p.Arg220=)
c.450G>T (p.Arg150=)
c.468G>T (p.Arg156=)
 gnomAD v4
2g.127423348C>ACA348400002PROCc.475C>A (p.Arg159Ser)
c.60C>A
c.577C>A (p.Arg193Ser)
c.418C>A (p.Arg140Ser)
n.61C>A
c.658C>A (p.Arg220Ser)
c.640C>A (p.Arg214Ser)
c.538C>A (p.Arg180Ser)
c.718C>A (p.Arg240Ser)
c.820C>A (p.Arg274Ser)
c.760C>A (p.Arg254Ser)
c.643C>A (p.Arg215Ser)
c.661C>A (p.Arg221Ser)
c.451C>A (p.Arg151Ser)
c.469C>A (p.Arg157Ser)
2g.127423348C=CA1286882154PROCc.475C= (p.Arg159=)
c.60C=
c.577C= (p.Arg193=)
c.418C= (p.Arg140=)
n.61C=
c.658C= (p.Arg220=)
c.640C= (p.Arg214=)
c.538C= (p.Arg180=)
c.718C= (p.Arg240=)
c.820C= (p.Arg274=)
c.760C= (p.Arg254=)
c.643C= (p.Arg215=)
c.661C= (p.Arg221=)
c.451C= (p.Arg151=)
c.469C= (p.Arg157=)
2g.127423348C>GCA348400007PROCc.475C>G (p.Arg159Gly)
c.60C>G
c.577C>G (p.Arg193Gly)
c.418C>G (p.Arg140Gly)
n.61C>G
c.658C>G (p.Arg220Gly)
c.640C>G (p.Arg214Gly)
c.538C>G (p.Arg180Gly)
c.718C>G (p.Arg240Gly)
c.820C>G (p.Arg274Gly)
c.760C>G (p.Arg254Gly)
c.643C>G (p.Arg215Gly)
c.661C>G (p.Arg221Gly)
c.451C>G (p.Arg151Gly)
c.469C>G (p.Arg157Gly)
2g.127423348C>TCA348400004PROCc.475C>T (p.Arg159Cys)
c.60C>T
c.577C>T (p.Arg193Cys)
c.418C>T (p.Arg140Cys)
n.61C>T
c.658C>T (p.Arg220Cys)
c.640C>T (p.Arg214Cys)
c.538C>T (p.Arg180Cys)
c.718C>T (p.Arg240Cys)
c.820C>T (p.Arg274Cys)
c.760C>T (p.Arg254Cys)
c.643C>T (p.Arg215Cys)
c.661C>T (p.Arg221Cys)
c.451C>T (p.Arg151Cys)
c.469C>T (p.Arg157Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.127423349G>ACA348400015PROCc.476G>A (p.Arg159His)
c.61G>A
c.578G>A (p.Arg193His)
c.419G>A (p.Arg140His)
n.62G>A
c.659G>A (p.Arg220His)
c.641G>A (p.Arg214His)
c.539G>A (p.Arg180His)
c.719G>A (p.Arg240His)
c.821G>A (p.Arg274His)
c.761G>A (p.Arg254His)
c.644G>A (p.Arg215His)
c.662G>A (p.Arg221His)
c.452G>A (p.Arg151His)
c.470G>A (p.Arg157His)
 gnomAD v4
2g.127423349G>CCA348400018PROCc.476G>C (p.Arg159Pro)
c.61G>C
c.578G>C (p.Arg193Pro)
c.419G>C (p.Arg140Pro)
n.62G>C
c.659G>C (p.Arg220Pro)
c.641G>C (p.Arg214Pro)
c.539G>C (p.Arg180Pro)
c.719G>C (p.Arg240Pro)
c.821G>C (p.Arg274Pro)
c.761G>C (p.Arg254Pro)
c.644G>C (p.Arg215Pro)
c.662G>C (p.Arg221Pro)
c.452G>C (p.Arg151Pro)
c.470G>C (p.Arg157Pro)
2g.127423349G>TCA348400017PROCc.476G>T (p.Arg159Leu)
c.61G>T
c.578G>T (p.Arg193Leu)
c.419G>T (p.Arg140Leu)
n.62G>T
c.659G>T (p.Arg220Leu)
c.641G>T (p.Arg214Leu)
c.539G>T (p.Arg180Leu)
c.719G>T (p.Arg240Leu)
c.821G>T (p.Arg274Leu)
c.761G>T (p.Arg254Leu)
c.644G>T (p.Arg215Leu)
c.662G>T (p.Arg221Leu)
c.452G>T (p.Arg151Leu)
c.470G>T (p.Arg157Leu)
 gnomAD v4
2g.127423350C>ACA428874722PROCc.477C>A (p.Arg159=)
c.62C>A
c.579C>A (p.Arg193=)
c.420C>A (p.Arg140=)
n.63C>A
c.660C>A (p.Arg220=)
c.642C>A (p.Arg214=)
c.540C>A (p.Arg180=)
c.720C>A (p.Arg240=)
c.822C>A (p.Arg274=)
c.762C>A (p.Arg254=)
c.645C>A (p.Arg215=)
c.663C>A (p.Arg221=)
c.453C>A (p.Arg151=)
c.471C>A (p.Arg157=)
 gnomAD v4
2g.127423350C>GCA428874720PROCc.477C>G (p.Arg159=)
c.62C>G
c.579C>G (p.Arg193=)
c.420C>G (p.Arg140=)
n.63C>G
c.660C>G (p.Arg220=)
c.642C>G (p.Arg214=)
c.540C>G (p.Arg180=)
c.720C>G (p.Arg240=)
c.822C>G (p.Arg274=)
c.762C>G (p.Arg254=)
c.645C>G (p.Arg215=)
c.663C>G (p.Arg221=)
c.453C>G (p.Arg151=)
c.471C>G (p.Arg157=)
2g.127423350C>TCA428874713PROCc.477C>T (p.Arg159=)
c.62C>T
c.579C>T (p.Arg193=)
c.420C>T (p.Arg140=)
n.63C>T
c.660C>T (p.Arg220=)
c.642C>T (p.Arg214=)
c.540C>T (p.Arg180=)
c.720C>T (p.Arg240=)
c.822C>T (p.Arg274=)
c.762C>T (p.Arg254=)
c.645C>T (p.Arg215=)
c.663C>T (p.Arg221=)
c.453C>T (p.Arg151=)
c.471C>T (p.Arg157=)
 gnomAD v4
2g.127423351T>ACA348400019PROCc.478T>A (p.Cys160Ser)
c.63T>A
c.580T>A (p.Cys194Ser)
c.421T>A (p.Cys141Ser)
n.64T>A
c.661T>A (p.Cys221Ser)
c.643T>A (p.Cys215Ser)
c.541T>A (p.Cys181Ser)
c.721T>A (p.Cys241Ser)
c.823T>A (p.Cys275Ser)
c.763T>A (p.Cys255Ser)
c.646T>A (p.Cys216Ser)
c.664T>A (p.Cys222Ser)
c.454T>A (p.Cys152Ser)
c.472T>A (p.Cys158Ser)
2g.127423351T>CCA348400021PROCc.478T>C (p.Cys160Arg)
c.63T>C
c.580T>C (p.Cys194Arg)
c.421T>C (p.Cys141Arg)
n.64T>C
c.661T>C (p.Cys221Arg)
c.643T>C (p.Cys215Arg)
c.541T>C (p.Cys181Arg)
c.721T>C (p.Cys241Arg)
c.823T>C (p.Cys275Arg)
c.763T>C (p.Cys255Arg)
c.646T>C (p.Cys216Arg)
c.664T>C (p.Cys222Arg)
c.454T>C (p.Cys152Arg)
c.472T>C (p.Cys158Arg)
2g.127423351T>GCA348400023PROCc.478T>G (p.Cys160Gly)
c.63T>G
c.580T>G (p.Cys194Gly)
c.421T>G (p.Cys141Gly)
n.64T>G
c.661T>G (p.Cys221Gly)
c.643T>G (p.Cys215Gly)
c.541T>G (p.Cys181Gly)
c.721T>G (p.Cys241Gly)
c.823T>G (p.Cys275Gly)
c.763T>G (p.Cys255Gly)
c.646T>G (p.Cys216Gly)
c.664T>G (p.Cys222Gly)
c.454T>G (p.Cys152Gly)
c.472T>G (p.Cys158Gly)
2g.127423352G>ACA348400026PROCc.479G>A (p.Cys160Tyr)
c.64G>A
c.581G>A (p.Cys194Tyr)
c.422G>A (p.Cys141Tyr)
n.65G>A
c.662G>A (p.Cys221Tyr)
c.644G>A (p.Cys215Tyr)
c.542G>A (p.Cys181Tyr)
c.722G>A (p.Cys241Tyr)
c.824G>A (p.Cys275Tyr)
c.764G>A (p.Cys255Tyr)
c.647G>A (p.Cys216Tyr)
c.665G>A (p.Cys222Tyr)
c.455G>A (p.Cys152Tyr)
c.473G>A (p.Cys158Tyr)
 gnomAD v4
2g.127423352G>CCA348400028PROCc.479G>C (p.Cys160Ser)
c.64G>C
c.581G>C (p.Cys194Ser)
c.422G>C (p.Cys141Ser)
n.65G>C
c.662G>C (p.Cys221Ser)
c.644G>C (p.Cys215Ser)
c.542G>C (p.Cys181Ser)
c.722G>C (p.Cys241Ser)
c.824G>C (p.Cys275Ser)
c.764G>C (p.Cys255Ser)
c.647G>C (p.Cys216Ser)
c.665G>C (p.Cys222Ser)
c.455G>C (p.Cys152Ser)
c.473G>C (p.Cys158Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127423352G=CA1286882155PROCc.479G= (p.Cys160=)
c.64G=
c.581G= (p.Cys194=)
c.422G= (p.Cys141=)
n.65G=
c.662G= (p.Cys221=)
c.644G= (p.Cys215=)
c.542G= (p.Cys181=)
c.722G= (p.Cys241=)
c.824G= (p.Cys275=)
c.764G= (p.Cys255=)
c.647G= (p.Cys216=)
c.665G= (p.Cys222=)
c.455G= (p.Cys152=)
c.473G= (p.Cys158=)
2g.127423352G>TCA348400030PROCc.479G>T (p.Cys160Phe)
c.64G>T
c.581G>T (p.Cys194Phe)
c.422G>T (p.Cys141Phe)
n.65G>T
c.662G>T (p.Cys221Phe)
c.644G>T (p.Cys215Phe)
c.542G>T (p.Cys181Phe)
c.722G>T (p.Cys241Phe)
c.824G>T (p.Cys275Phe)
c.764G>T (p.Cys255Phe)
c.647G>T (p.Cys216Phe)
c.665G>T (p.Cys222Phe)
c.455G>T (p.Cys152Phe)
c.473G>T (p.Cys158Phe)
2g.127423353T>ACA348400032PROCc.480T>A (p.Cys160Ter)
c.65T>A
c.582T>A (p.Cys194Ter)
c.423T>A (p.Cys141Ter)
n.66T>A
c.663T>A (p.Cys221Ter)
c.645T>A (p.Cys215Ter)
c.543T>A (p.Cys181Ter)
c.723T>A (p.Cys241Ter)
c.825T>A (p.Cys275Ter)
c.765T>A (p.Cys255Ter)
c.648T>A (p.Cys216Ter)
c.666T>A (p.Cys222Ter)
c.456T>A (p.Cys152Ter)
c.474T>A (p.Cys158Ter)
2g.127423353T>CCA428874736PROCc.480T>C (p.Cys160=)
c.65T>C
c.582T>C (p.Cys194=)
c.423T>C (p.Cys141=)
n.66T>C
c.663T>C (p.Cys221=)
c.645T>C (p.Cys215=)
c.543T>C (p.Cys181=)
c.723T>C (p.Cys241=)
c.825T>C (p.Cys275=)
c.765T>C (p.Cys255=)
c.648T>C (p.Cys216=)
c.666T>C (p.Cys222=)
c.456T>C (p.Cys152=)
c.474T>C (p.Cys158=)
2g.127423353T>GCA348400033PROCc.480T>G (p.Cys160Trp)
c.65T>G
c.582T>G (p.Cys194Trp)
c.423T>G (p.Cys141Trp)
n.66T>G
c.663T>G (p.Cys221Trp)
c.645T>G (p.Cys215Trp)
c.543T>G (p.Cys181Trp)
c.723T>G (p.Cys241Trp)
c.825T>G (p.Cys275Trp)
c.765T>G (p.Cys255Trp)
c.648T>G (p.Cys216Trp)
c.666T>G (p.Cys222Trp)
c.456T>G (p.Cys152Trp)
c.474T>G (p.Cys158Trp)
2g.127423354A>CCA348400037PROCc.481A>C (p.Ser161Arg)
c.66A>C
c.583A>C (p.Ser195Arg)
c.424A>C (p.Ser142Arg)
n.67A>C
c.664A>C (p.Ser222Arg)
c.646A>C (p.Ser216Arg)
c.544A>C (p.Ser182Arg)
c.724A>C (p.Ser242Arg)
c.826A>C (p.Ser276Arg)
c.766A>C (p.Ser256Arg)
c.649A>C (p.Ser217Arg)
c.667A>C (p.Ser223Arg)
c.457A>C (p.Ser153Arg)
c.475A>C (p.Ser159Arg)
2g.127423354A>GCA348400042PROCc.481A>G (p.Ser161Gly)
c.66A>G
c.583A>G (p.Ser195Gly)
c.424A>G (p.Ser142Gly)
n.67A>G
c.664A>G (p.Ser222Gly)
c.646A>G (p.Ser216Gly)
c.544A>G (p.Ser182Gly)
c.724A>G (p.Ser242Gly)
c.826A>G (p.Ser276Gly)
c.766A>G (p.Ser256Gly)
c.649A>G (p.Ser217Gly)
c.667A>G (p.Ser223Gly)
c.457A>G (p.Ser153Gly)
c.475A>G (p.Ser159Gly)
 gnomAD v4
2g.127423354A>TCA348400039PROCc.481A>T (p.Ser161Cys)
c.66A>T
c.583A>T (p.Ser195Cys)
c.424A>T (p.Ser142Cys)
n.67A>T
c.664A>T (p.Ser222Cys)
c.646A>T (p.Ser216Cys)
c.544A>T (p.Ser182Cys)
c.724A>T (p.Ser242Cys)
c.826A>T (p.Ser276Cys)
c.766A>T (p.Ser256Cys)
c.649A>T (p.Ser217Cys)
c.667A>T (p.Ser223Cys)
c.457A>T (p.Ser153Cys)
c.475A>T (p.Ser159Cys)
2g.127423355G>ACA348400051PROCc.482G>A (p.Ser161Asn)
c.67G>A
c.584G>A (p.Ser195Asn)
c.425G>A (p.Ser142Asn)
n.68G>A
c.665G>A (p.Ser222Asn)
c.647G>A (p.Ser216Asn)
c.545G>A (p.Ser182Asn)
c.725G>A (p.Ser242Asn)
c.827G>A (p.Ser276Asn)
c.767G>A (p.Ser256Asn)
c.650G>A (p.Ser217Asn)
c.668G>A (p.Ser223Asn)
c.458G>A (p.Ser153Asn)
c.476G>A (p.Ser159Asn)
 gnomAD v4
2g.127423355G>CCA348400054PROCc.482G>C (p.Ser161Thr)
c.67G>C
c.584G>C (p.Ser195Thr)
c.425G>C (p.Ser142Thr)
n.68G>C
c.665G>C (p.Ser222Thr)
c.647G>C (p.Ser216Thr)
c.545G>C (p.Ser182Thr)
c.725G>C (p.Ser242Thr)
c.827G>C (p.Ser276Thr)
c.767G>C (p.Ser256Thr)
c.650G>C (p.Ser217Thr)
c.668G>C (p.Ser223Thr)
c.458G>C (p.Ser153Thr)
c.476G>C (p.Ser159Thr)
2g.127423355G>TCA348400057PROCc.482G>T (p.Ser161Ile)
c.67G>T
c.584G>T (p.Ser195Ile)
c.425G>T (p.Ser142Ile)
n.68G>T
c.665G>T (p.Ser222Ile)
c.647G>T (p.Ser216Ile)
c.545G>T (p.Ser182Ile)
c.725G>T (p.Ser242Ile)
c.827G>T (p.Ser276Ile)
c.767G>T (p.Ser256Ile)
c.650G>T (p.Ser217Ile)
c.668G>T (p.Ser223Ile)
c.458G>T (p.Ser153Ile)
c.476G>T (p.Ser159Ile)
 gnomAD v4
2g.127423356C>ACA348400059PROCc.483C>A (p.Ser161Arg)
c.68C>A
c.585C>A (p.Ser195Arg)
c.426C>A (p.Ser142Arg)
n.69C>A
c.666C>A (p.Ser222Arg)
c.648C>A (p.Ser216Arg)
c.546C>A (p.Ser182Arg)
c.726C>A (p.Ser242Arg)
c.828C>A (p.Ser276Arg)
c.768C>A (p.Ser256Arg)
c.651C>A (p.Ser217Arg)
c.669C>A (p.Ser223Arg)
c.459C>A (p.Ser153Arg)
c.477C>A (p.Ser159Arg)
 gnomAD v4
2g.127423356C=CA1286882156PROCc.483C= (p.Ser161=)
c.68C=
c.585C= (p.Ser195=)
c.426C= (p.Ser142=)
n.69C=
c.666C= (p.Ser222=)
c.648C= (p.Ser216=)
c.546C= (p.Ser182=)
c.726C= (p.Ser242=)
c.828C= (p.Ser276=)
c.768C= (p.Ser256=)
c.651C= (p.Ser217=)
c.669C= (p.Ser223=)
c.459C= (p.Ser153=)
c.477C= (p.Ser159=)
2g.127423356C>GCA348400061PROCc.483C>G (p.Ser161Arg)
c.68C>G
c.585C>G (p.Ser195Arg)
c.426C>G (p.Ser142Arg)
n.69C>G
c.666C>G (p.Ser222Arg)
c.648C>G (p.Ser216Arg)
c.546C>G (p.Ser182Arg)
c.726C>G (p.Ser242Arg)
c.828C>G (p.Ser276Arg)
c.768C>G (p.Ser256Arg)
c.651C>G (p.Ser217Arg)
c.669C>G (p.Ser223Arg)
c.459C>G (p.Ser153Arg)
c.477C>G (p.Ser159Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423356C>TCA428874749PROCc.483C>T (p.Ser161=)
c.68C>T
c.585C>T (p.Ser195=)
c.426C>T (p.Ser142=)
n.69C>T
c.666C>T (p.Ser222=)
c.648C>T (p.Ser216=)
c.546C>T (p.Ser182=)
c.726C>T (p.Ser242=)
c.828C>T (p.Ser276=)
c.768C>T (p.Ser256=)
c.651C>T (p.Ser217=)
c.669C>T (p.Ser223=)
c.459C>T (p.Ser153=)
c.477C>T (p.Ser159=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423356_127423359dupCA2660996466PROCc.483_486dup (p.Ala163LeufsTer?)
c.68_71dup
c.585_588dup (p.Ala197LeufsTer?)
c.426_429dup (p.Ala144LeufsTer?)
n.69_72dup
c.666_669dup (p.Ala224LeufsTer?)
c.648_651dup (p.Ala218LeufsTer?)
c.546_549dup (p.Ala184LeufsTer?)
c.726_729dup (p.Ala244LeufsTer?)
c.828_831dup (p.Ala278LeufsTer?)
c.768_771dup (p.Ala258LeufsTer?)
c.651_654dup (p.Ala219LeufsTer?)
c.669_672dup (p.Ala225LeufsTer?)
c.459_462dup (p.Ala155LeufsTer?)
c.477_480dup (p.Ala161LeufsTer?)
 gnomAD v4
2g.127423357T>ACA348400065PROCc.484T>A (p.Cys162Ser)
c.69T>A
c.586T>A (p.Cys196Ser)
c.427T>A (p.Cys143Ser)
n.70T>A
c.667T>A (p.Cys223Ser)
c.649T>A (p.Cys217Ser)
c.547T>A (p.Cys183Ser)
c.727T>A (p.Cys243Ser)
c.829T>A (p.Cys277Ser)
c.769T>A (p.Cys257Ser)
c.652T>A (p.Cys218Ser)
c.670T>A (p.Cys224Ser)
c.460T>A (p.Cys154Ser)
c.478T>A (p.Cys160Ser)
2g.127423357T>CCA348400070PROCc.484T>C (p.Cys162Arg)
c.69T>C
c.586T>C (p.Cys196Arg)
c.427T>C (p.Cys143Arg)
n.70T>C
c.667T>C (p.Cys223Arg)
c.649T>C (p.Cys217Arg)
c.547T>C (p.Cys183Arg)
c.727T>C (p.Cys243Arg)
c.829T>C (p.Cys277Arg)
c.769T>C (p.Cys257Arg)
c.652T>C (p.Cys218Arg)
c.670T>C (p.Cys224Arg)
c.460T>C (p.Cys154Arg)
c.478T>C (p.Cys160Arg)
2g.127423357T>GCA348400067PROCc.484T>G (p.Cys162Gly)
c.69T>G
c.586T>G (p.Cys196Gly)
c.427T>G (p.Cys143Gly)
n.70T>G
c.667T>G (p.Cys223Gly)
c.649T>G (p.Cys217Gly)
c.547T>G (p.Cys183Gly)
c.727T>G (p.Cys243Gly)
c.829T>G (p.Cys277Gly)
c.769T>G (p.Cys257Gly)
c.652T>G (p.Cys218Gly)
c.670T>G (p.Cys224Gly)
c.460T>G (p.Cys154Gly)
c.478T>G (p.Cys160Gly)
 dbSNP gnomAD v4
2g.127423357T=CA1286882157PROCc.484T= (p.Cys162=)
c.69T=
c.586T= (p.Cys196=)
c.427T= (p.Cys143=)
n.70T=
c.667T= (p.Cys223=)
c.649T= (p.Cys217=)
c.547T= (p.Cys183=)
c.727T= (p.Cys243=)
c.829T= (p.Cys277=)
c.769T= (p.Cys257=)
c.652T= (p.Cys218=)
c.670T= (p.Cys224=)
c.460T= (p.Cys154=)
c.478T= (p.Cys160=)
2g.127423358G>ACA348400072PROCc.485G>A (p.Cys162Tyr)
c.70G>A
c.587G>A (p.Cys196Tyr)
c.428G>A (p.Cys143Tyr)
n.71G>A
c.668G>A (p.Cys223Tyr)
c.650G>A (p.Cys217Tyr)
c.548G>A (p.Cys183Tyr)
c.728G>A (p.Cys243Tyr)
c.830G>A (p.Cys277Tyr)
c.770G>A (p.Cys257Tyr)
c.653G>A (p.Cys218Tyr)
c.671G>A (p.Cys224Tyr)
c.461G>A (p.Cys154Tyr)
c.479G>A (p.Cys160Tyr)
 gnomAD v4
2g.127423358G>CCA348400074PROCc.485G>C (p.Cys162Ser)
c.70G>C
c.587G>C (p.Cys196Ser)
c.428G>C (p.Cys143Ser)
n.71G>C
c.668G>C (p.Cys223Ser)
c.650G>C (p.Cys217Ser)
c.548G>C (p.Cys183Ser)
c.728G>C (p.Cys243Ser)
c.830G>C (p.Cys277Ser)
c.770G>C (p.Cys257Ser)
c.653G>C (p.Cys218Ser)
c.671G>C (p.Cys224Ser)
c.461G>C (p.Cys154Ser)
c.479G>C (p.Cys160Ser)
2g.127423358G>TCA348400079PROCc.485G>T (p.Cys162Phe)
c.70G>T
c.587G>T (p.Cys196Phe)
c.428G>T (p.Cys143Phe)
n.71G>T
c.668G>T (p.Cys223Phe)
c.650G>T (p.Cys217Phe)
c.548G>T (p.Cys183Phe)
c.728G>T (p.Cys243Phe)
c.830G>T (p.Cys277Phe)
c.770G>T (p.Cys257Phe)
c.653G>T (p.Cys218Phe)
c.671G>T (p.Cys224Phe)
c.461G>T (p.Cys154Phe)
c.479G>T (p.Cys160Phe)
2g.127423359T>ACA348400082PROCc.486T>A (p.Cys162Ter)
c.71T>A
c.588T>A (p.Cys196Ter)
c.429T>A (p.Cys143Ter)
n.72T>A
c.669T>A (p.Cys223Ter)
c.651T>A (p.Cys217Ter)
c.549T>A (p.Cys183Ter)
c.729T>A (p.Cys243Ter)
c.831T>A (p.Cys277Ter)
c.771T>A (p.Cys257Ter)
c.654T>A (p.Cys218Ter)
c.672T>A (p.Cys224Ter)
c.462T>A (p.Cys154Ter)
c.480T>A (p.Cys160Ter)
2g.127423359T>CCA428874762PROCc.486T>C (p.Cys162=)
c.71T>C
c.588T>C (p.Cys196=)
c.429T>C (p.Cys143=)
n.72T>C
c.669T>C (p.Cys223=)
c.651T>C (p.Cys217=)
c.549T>C (p.Cys183=)
c.729T>C (p.Cys243=)
c.831T>C (p.Cys277=)
c.771T>C (p.Cys257=)
c.654T>C (p.Cys218=)
c.672T>C (p.Cys224=)
c.462T>C (p.Cys154=)
c.480T>C (p.Cys160=)
 gnomAD v4
2g.127423359T>GCA348400083PROCc.486T>G (p.Cys162Trp)
c.71T>G
c.588T>G (p.Cys196Trp)
c.429T>G (p.Cys143Trp)
n.72T>G
c.669T>G (p.Cys223Trp)
c.651T>G (p.Cys217Trp)
c.549T>G (p.Cys183Trp)
c.729T>G (p.Cys243Trp)
c.831T>G (p.Cys277Trp)
c.771T>G (p.Cys257Trp)
c.654T>G (p.Cys218Trp)
c.672T>G (p.Cys224Trp)
c.462T>G (p.Cys154Trp)
c.480T>G (p.Cys160Trp)
2g.127423360G>ACA348400084PROCc.487G>A (p.Ala163Thr)
c.72G>A
c.589G>A (p.Ala197Thr)
c.430G>A (p.Ala144Thr)
n.73G>A
c.670G>A (p.Ala224Thr)
c.652G>A (p.Ala218Thr)
c.550G>A (p.Ala184Thr)
c.730G>A (p.Ala244Thr)
c.832G>A (p.Ala278Thr)
c.772G>A (p.Ala258Thr)
c.655G>A (p.Ala219Thr)
c.673G>A (p.Ala225Thr)
c.463G>A (p.Ala155Thr)
c.481G>A (p.Ala161Thr)
2g.127423360G>CCA348400085PROCc.487G>C (p.Ala163Pro)
c.72G>C
c.589G>C (p.Ala197Pro)
c.430G>C (p.Ala144Pro)
n.73G>C
c.670G>C (p.Ala224Pro)
c.652G>C (p.Ala218Pro)
c.550G>C (p.Ala184Pro)
c.730G>C (p.Ala244Pro)
c.832G>C (p.Ala278Pro)
c.772G>C (p.Ala258Pro)
c.655G>C (p.Ala219Pro)
c.673G>C (p.Ala225Pro)
c.463G>C (p.Ala155Pro)
c.481G>C (p.Ala161Pro)
 ClinVar
2g.127423360G>TCA348400087PROCc.487G>T (p.Ala163Ser)
c.72G>T
c.589G>T (p.Ala197Ser)
c.430G>T (p.Ala144Ser)
n.73G>T
c.670G>T (p.Ala224Ser)
c.652G>T (p.Ala218Ser)
c.550G>T (p.Ala184Ser)
c.730G>T (p.Ala244Ser)
c.832G>T (p.Ala278Ser)
c.772G>T (p.Ala258Ser)
c.655G>T (p.Ala219Ser)
c.673G>T (p.Ala225Ser)
c.463G>T (p.Ala155Ser)
c.481G>T (p.Ala161Ser)
 ClinVar gnomAD v4
2g.127423361C>ACA348400089PROCc.488C>A (p.Ala163Glu)
c.73C>A
c.590C>A (p.Ala197Glu)
c.431C>A (p.Ala144Glu)
n.74C>A
c.671C>A (p.Ala224Glu)
c.653C>A (p.Ala218Glu)
c.551C>A (p.Ala184Glu)
c.731C>A (p.Ala244Glu)
c.833C>A (p.Ala278Glu)
c.773C>A (p.Ala258Glu)
c.656C>A (p.Ala219Glu)
c.674C>A (p.Ala225Glu)
c.464C>A (p.Ala155Glu)
c.482C>A (p.Ala161Glu)
 gnomAD v4
2g.127423361C>GCA348400091PROCc.488C>G (p.Ala163Gly)
c.73C>G
c.590C>G (p.Ala197Gly)
c.431C>G (p.Ala144Gly)
n.74C>G
c.671C>G (p.Ala224Gly)
c.653C>G (p.Ala218Gly)
c.551C>G (p.Ala184Gly)
c.731C>G (p.Ala244Gly)
c.833C>G (p.Ala278Gly)
c.773C>G (p.Ala258Gly)
c.656C>G (p.Ala219Gly)
c.674C>G (p.Ala225Gly)
c.464C>G (p.Ala155Gly)
c.482C>G (p.Ala161Gly)
2g.127423361C>TCA348400092PROCc.488C>T (p.Ala163Val)
c.73C>T
c.590C>T (p.Ala197Val)
c.431C>T (p.Ala144Val)
n.74C>T
c.671C>T (p.Ala224Val)
c.653C>T (p.Ala218Val)
c.551C>T (p.Ala184Val)
c.731C>T (p.Ala244Val)
c.833C>T (p.Ala278Val)
c.773C>T (p.Ala258Val)
c.656C>T (p.Ala219Val)
c.674C>T (p.Ala225Val)
c.464C>T (p.Ala155Val)
c.482C>T (p.Ala161Val)
 gnomAD v4
2g.127423362G>ACA1859357PROCc.489G>A (p.Ala163=)
c.74G>A
c.591G>A (p.Ala197=)
c.432G>A (p.Ala144=)
n.75G>A
c.672G>A (p.Ala224=)
c.654G>A (p.Ala218=)
c.552G>A (p.Ala184=)
c.732G>A (p.Ala244=)
c.834G>A (p.Ala278=)
c.774G>A (p.Ala258=)
c.657G>A (p.Ala219=)
c.675G>A (p.Ala225=)
c.465G>A (p.Ala155=)
c.483G>A (p.Ala161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127423362G>CCA428874780PROCc.489G>C (p.Ala163=)
c.74G>C
c.591G>C (p.Ala197=)
c.432G>C (p.Ala144=)
n.75G>C
c.672G>C (p.Ala224=)
c.654G>C (p.Ala218=)
c.552G>C (p.Ala184=)
c.732G>C (p.Ala244=)
c.834G>C (p.Ala278=)
c.774G>C (p.Ala258=)
c.657G>C (p.Ala219=)
c.675G>C (p.Ala225=)
c.465G>C (p.Ala155=)
c.483G>C (p.Ala161=)
2g.127423362G=CA1286882158PROCc.489G= (p.Ala163=)
c.74G=
c.591G= (p.Ala197=)
c.432G= (p.Ala144=)
n.75G=
c.672G= (p.Ala224=)
c.654G= (p.Ala218=)
c.552G= (p.Ala184=)
c.732G= (p.Ala244=)
c.834G= (p.Ala278=)
c.774G= (p.Ala258=)
c.657G= (p.Ala219=)
c.675G= (p.Ala225=)
c.465G= (p.Ala155=)
c.483G= (p.Ala161=)
2g.127423362G>TCA428874778PROCc.489G>T (p.Ala163=)
c.74G>T
c.591G>T (p.Ala197=)
c.432G>T (p.Ala144=)
n.75G>T
c.672G>T (p.Ala224=)
c.654G>T (p.Ala218=)
c.552G>T (p.Ala184=)
c.732G>T (p.Ala244=)
c.834G>T (p.Ala278=)
c.774G>T (p.Ala258=)
c.657G>T (p.Ala219=)
c.675G>T (p.Ala225=)
c.465G>T (p.Ala155=)
c.483G>T (p.Ala161=)
 dbSNP gnomAD v3 gnomAD v4
2g.127423363C>ACA348400098PROCc.490C>A (p.Pro164Thr)
c.75C>A
c.592C>A (p.Pro198Thr)
c.433C>A (p.Pro145Thr)
n.76C>A
c.673C>A (p.Pro225Thr)
c.655C>A (p.Pro219Thr)
c.553C>A (p.Pro185Thr)
c.733C>A (p.Pro245Thr)
c.835C>A (p.Pro279Thr)
c.775C>A (p.Pro259Thr)
c.658C>A (p.Pro220Thr)
c.676C>A (p.Pro226Thr)
c.466C>A (p.Pro156Thr)
c.484C>A (p.Pro162Thr)
2g.127423363C=CA1286882159PROCc.490C= (p.Pro164=)
c.75C=
c.592C= (p.Pro198=)
c.433C= (p.Pro145=)
n.76C=
c.673C= (p.Pro225=)
c.655C= (p.Pro219=)
c.553C= (p.Pro185=)
c.733C= (p.Pro245=)
c.835C= (p.Pro279=)
c.775C= (p.Pro259=)
c.658C= (p.Pro220=)
c.676C= (p.Pro226=)
c.466C= (p.Pro156=)
c.484C= (p.Pro162=)
2g.127423363C>GCA348400102PROCc.490C>G (p.Pro164Ala)
c.75C>G
c.592C>G (p.Pro198Ala)
c.433C>G (p.Pro145Ala)
n.76C>G
c.673C>G (p.Pro225Ala)
c.655C>G (p.Pro219Ala)
c.553C>G (p.Pro185Ala)
c.733C>G (p.Pro245Ala)
c.835C>G (p.Pro279Ala)
c.775C>G (p.Pro259Ala)
c.658C>G (p.Pro220Ala)
c.676C>G (p.Pro226Ala)
c.466C>G (p.Pro156Ala)
c.484C>G (p.Pro162Ala)
2g.127423363C>TCA348400100PROCc.490C>T (p.Pro164Ser)
c.75C>T
c.592C>T (p.Pro198Ser)
c.433C>T (p.Pro145Ser)
n.76C>T
c.673C>T (p.Pro225Ser)
c.655C>T (p.Pro219Ser)
c.553C>T (p.Pro185Ser)
c.733C>T (p.Pro245Ser)
c.835C>T (p.Pro279Ser)
c.775C>T (p.Pro259Ser)
c.658C>T (p.Pro220Ser)
c.676C>T (p.Pro226Ser)
c.466C>T (p.Pro156Ser)
c.484C>T (p.Pro162Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.127423364C>ACA348400104PROCc.491C>A (p.Pro164His)
c.76C>A
c.593C>A (p.Pro198His)
c.434C>A (p.Pro145His)
n.77C>A
c.674C>A (p.Pro225His)
c.656C>A (p.Pro219His)
c.554C>A (p.Pro185His)
c.734C>A (p.Pro245His)
c.836C>A (p.Pro279His)
c.776C>A (p.Pro259His)
c.659C>A (p.Pro220His)
c.677C>A (p.Pro226His)
c.467C>A (p.Pro156His)
c.485C>A (p.Pro162His)
 dbSNP gnomAD v4
2g.127423364C=CA1286882160PROCc.491C= (p.Pro164=)
c.76C=
c.593C= (p.Pro198=)
c.434C= (p.Pro145=)
n.77C=
c.674C= (p.Pro225=)
c.656C= (p.Pro219=)
c.554C= (p.Pro185=)
c.734C= (p.Pro245=)
c.836C= (p.Pro279=)
c.776C= (p.Pro259=)
c.659C= (p.Pro220=)
c.677C= (p.Pro226=)
c.467C= (p.Pro156=)
c.485C= (p.Pro162=)
2g.127423364C>GCA348400106PROCc.491C>G (p.Pro164Arg)
c.76C>G
c.593C>G (p.Pro198Arg)
c.434C>G (p.Pro145Arg)
n.77C>G
c.674C>G (p.Pro225Arg)
c.656C>G (p.Pro219Arg)
c.554C>G (p.Pro185Arg)
c.734C>G (p.Pro245Arg)
c.836C>G (p.Pro279Arg)
c.776C>G (p.Pro259Arg)
c.659C>G (p.Pro220Arg)
c.677C>G (p.Pro226Arg)
c.467C>G (p.Pro156Arg)
c.485C>G (p.Pro162Arg)
2g.127423364C>TCA348400108PROCc.491C>T (p.Pro164Leu)
c.76C>T
c.593C>T (p.Pro198Leu)
c.434C>T (p.Pro145Leu)
n.77C>T
c.674C>T (p.Pro225Leu)
c.656C>T (p.Pro219Leu)
c.554C>T (p.Pro185Leu)
c.734C>T (p.Pro245Leu)
c.836C>T (p.Pro279Leu)
c.776C>T (p.Pro259Leu)
c.659C>T (p.Pro220Leu)
c.677C>T (p.Pro226Leu)
c.467C>T (p.Pro156Leu)
c.485C>T (p.Pro162Leu)
2g.127423365T>ACA428617597PROCc.492T>A (p.Pro164=)
c.77T>A
c.594T>A (p.Pro198=)
c.435T>A (p.Pro145=)
n.78T>A
c.675T>A (p.Pro225=)
c.657T>A (p.Pro219=)
c.555T>A (p.Pro185=)
c.735T>A (p.Pro245=)
c.837T>A (p.Pro279=)
c.777T>A (p.Pro259=)
c.660T>A (p.Pro220=)
c.678T>A (p.Pro226=)
c.468T>A (p.Pro156=)
c.486T>A (p.Pro162=)
2g.127423365T>CCA428617599PROCc.492T>C (p.Pro164=)
c.77T>C
c.594T>C (p.Pro198=)
c.435T>C (p.Pro145=)
n.78T>C
c.675T>C (p.Pro225=)
c.657T>C (p.Pro219=)
c.555T>C (p.Pro185=)
c.735T>C (p.Pro245=)
c.837T>C (p.Pro279=)
c.777T>C (p.Pro259=)
c.660T>C (p.Pro220=)
c.678T>C (p.Pro226=)
c.468T>C (p.Pro156=)
c.486T>C (p.Pro162=)
 gnomAD v4
2g.127423365T>GCA428617601PROCc.492T>G (p.Pro164=)
c.77T>G
c.594T>G (p.Pro198=)
c.435T>G (p.Pro145=)
n.78T>G
c.675T>G (p.Pro225=)
c.657T>G (p.Pro219=)
c.555T>G (p.Pro185=)
c.735T>G (p.Pro245=)
c.837T>G (p.Pro279=)
c.777T>G (p.Pro259=)
c.660T>G (p.Pro220=)
c.678T>G (p.Pro226=)
c.468T>G (p.Pro156=)
c.486T>G (p.Pro162=)
2g.127423366G>ACA348400111PROCc.493G>A (p.Gly165Ser)
c.78G>A
c.595G>A (p.Gly199Ser)
c.436G>A (p.Gly146Ser)
n.79G>A
c.676G>A (p.Gly226Ser)
c.658G>A (p.Gly220Ser)
c.556G>A (p.Gly186Ser)
c.736G>A (p.Gly246Ser)
c.838G>A (p.Gly280Ser)
c.778G>A (p.Gly260Ser)
c.661G>A (p.Gly221Ser)
c.679G>A (p.Gly227Ser)
c.469G>A (p.Gly157Ser)
c.487G>A (p.Gly163Ser)
2g.127423366G>CCA348400112PROCc.493G>C (p.Gly165Arg)
c.78G>C
c.595G>C (p.Gly199Arg)
c.436G>C (p.Gly146Arg)
n.79G>C
c.676G>C (p.Gly226Arg)
c.658G>C (p.Gly220Arg)
c.556G>C (p.Gly186Arg)
c.736G>C (p.Gly246Arg)
c.838G>C (p.Gly280Arg)
c.778G>C (p.Gly260Arg)
c.661G>C (p.Gly221Arg)
c.679G>C (p.Gly227Arg)
c.469G>C (p.Gly157Arg)
c.487G>C (p.Gly163Arg)
2g.127423366G>TCA348400114PROCc.493G>T (p.Gly165Cys)
c.78G>T
c.595G>T (p.Gly199Cys)
c.436G>T (p.Gly146Cys)
n.79G>T
c.676G>T (p.Gly226Cys)
c.658G>T (p.Gly220Cys)
c.556G>T (p.Gly186Cys)
c.736G>T (p.Gly246Cys)
c.838G>T (p.Gly280Cys)
c.778G>T (p.Gly260Cys)
c.661G>T (p.Gly221Cys)
c.679G>T (p.Gly227Cys)
c.469G>T (p.Gly157Cys)
c.487G>T (p.Gly163Cys)
2g.127423367G>ACA348400118PROCc.494G>A (p.Gly165Asp)
c.79G>A
c.596G>A (p.Gly199Asp)
c.437G>A (p.Gly146Asp)
n.80G>A
c.677G>A (p.Gly226Asp)
c.659G>A (p.Gly220Asp)
c.557G>A (p.Gly186Asp)
c.737G>A (p.Gly246Asp)
c.839G>A (p.Gly280Asp)
c.779G>A (p.Gly260Asp)
c.662G>A (p.Gly221Asp)
c.680G>A (p.Gly227Asp)
c.470G>A (p.Gly157Asp)
c.488G>A (p.Gly163Asp)
 gnomAD v4
2g.127423367G>CCA348400120PROCc.494G>C (p.Gly165Ala)
c.79G>C
c.596G>C (p.Gly199Ala)
c.437G>C (p.Gly146Ala)
n.80G>C
c.677G>C (p.Gly226Ala)
c.659G>C (p.Gly220Ala)
c.557G>C (p.Gly186Ala)
c.737G>C (p.Gly246Ala)
c.839G>C (p.Gly280Ala)
c.779G>C (p.Gly260Ala)
c.662G>C (p.Gly221Ala)
c.680G>C (p.Gly227Ala)
c.470G>C (p.Gly157Ala)
c.488G>C (p.Gly163Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.127423367G=CA1286882161PROCc.494G= (p.Gly165=)
c.79G=
c.596G= (p.Gly199=)
c.437G= (p.Gly146=)
n.80G=
c.677G= (p.Gly226=)
c.659G= (p.Gly220=)
c.557G= (p.Gly186=)
c.737G= (p.Gly246=)
c.839G= (p.Gly280=)
c.779G= (p.Gly260=)
c.662G= (p.Gly221=)
c.680G= (p.Gly227=)
c.470G= (p.Gly157=)
c.488G= (p.Gly163=)
2g.127423367G>TCA348400121PROCc.494G>T (p.Gly165Val)
c.79G>T
c.596G>T (p.Gly199Val)
c.437G>T (p.Gly146Val)
n.80G>T
c.677G>T (p.Gly226Val)
c.659G>T (p.Gly220Val)
c.557G>T (p.Gly186Val)
c.737G>T (p.Gly246Val)
c.839G>T (p.Gly280Val)
c.779G>T (p.Gly260Val)
c.662G>T (p.Gly221Val)
c.680G>T (p.Gly227Val)
c.470G>T (p.Gly157Val)
c.488G>T (p.Gly163Val)
 gnomAD v4
2g.127423368C>ACA428617604PROCc.495C>A (p.Gly165=)
c.80C>A
c.597C>A (p.Gly199=)
c.438C>A (p.Gly146=)
n.81C>A
c.678C>A (p.Gly226=)
c.660C>A (p.Gly220=)
c.558C>A (p.Gly186=)
c.738C>A (p.Gly246=)
c.840C>A (p.Gly280=)
c.780C>A (p.Gly260=)
c.663C>A (p.Gly221=)
c.681C>A (p.Gly227=)
c.471C>A (p.Gly157=)
c.489C>A (p.Gly163=)
 gnomAD v4
2g.127423368C>GCA428617605PROCc.495C>G (p.Gly165=)
c.80C>G
c.597C>G (p.Gly199=)
c.438C>G (p.Gly146=)
n.81C>G
c.678C>G (p.Gly226=)
c.660C>G (p.Gly220=)
c.558C>G (p.Gly186=)
c.738C>G (p.Gly246=)
c.840C>G (p.Gly280=)
c.780C>G (p.Gly260=)
c.663C>G (p.Gly221=)
c.681C>G (p.Gly227=)
c.471C>G (p.Gly157=)
c.489C>G (p.Gly163=)
2g.127423368C>TCA428617606PROCc.495C>T (p.Gly165=)
c.80C>T
c.597C>T (p.Gly199=)
c.438C>T (p.Gly146=)
n.81C>T
c.678C>T (p.Gly226=)
c.660C>T (p.Gly220=)
c.558C>T (p.Gly186=)
c.738C>T (p.Gly246=)
c.840C>T (p.Gly280=)
c.780C>T (p.Gly260=)
c.663C>T (p.Gly221=)
c.681C>T (p.Gly227=)
c.471C>T (p.Gly157=)
c.489C>T (p.Gly163=)
2g.127423369T>ACA348400124PROCc.496T>A (p.Tyr166Asn)
c.81T>A
c.598T>A (p.Tyr200Asn)
c.439T>A (p.Tyr147Asn)
n.82T>A
c.679T>A (p.Tyr227Asn)
c.661T>A (p.Tyr221Asn)
c.559T>A (p.Tyr187Asn)
c.739T>A (p.Tyr247Asn)
c.841T>A (p.Tyr281Asn)
c.781T>A (p.Tyr261Asn)
c.664T>A (p.Tyr222Asn)
c.682T>A (p.Tyr228Asn)
c.472T>A (p.Tyr158Asn)
c.490T>A (p.Tyr164Asn)
2g.127423369T>CCA348400125PROCc.496T>C (p.Tyr166His)
c.81T>C
c.598T>C (p.Tyr200His)
c.439T>C (p.Tyr147His)
n.82T>C
c.679T>C (p.Tyr227His)
c.661T>C (p.Tyr221His)
c.559T>C (p.Tyr187His)
c.739T>C (p.Tyr247His)
c.841T>C (p.Tyr281His)
c.781T>C (p.Tyr261His)
c.664T>C (p.Tyr222His)
c.682T>C (p.Tyr228His)
c.472T>C (p.Tyr158His)
c.490T>C (p.Tyr164His)
2g.127423369T>GCA348400126PROCc.496T>G (p.Tyr166Asp)
c.81T>G
c.598T>G (p.Tyr200Asp)
c.439T>G (p.Tyr147Asp)
n.82T>G
c.679T>G (p.Tyr227Asp)
c.661T>G (p.Tyr221Asp)
c.559T>G (p.Tyr187Asp)
c.739T>G (p.Tyr247Asp)
c.841T>G (p.Tyr281Asp)
c.781T>G (p.Tyr261Asp)
c.664T>G (p.Tyr222Asp)
c.682T>G (p.Tyr228Asp)
c.472T>G (p.Tyr158Asp)
c.490T>G (p.Tyr164Asp)
2g.127423370A>CCA348400131PROCc.497A>C (p.Tyr166Ser)
c.82A>C
c.599A>C (p.Tyr200Ser)
c.440A>C (p.Tyr147Ser)
n.83A>C
c.680A>C (p.Tyr227Ser)
c.662A>C (p.Tyr221Ser)
c.560A>C (p.Tyr187Ser)
c.740A>C (p.Tyr247Ser)
c.842A>C (p.Tyr281Ser)
c.782A>C (p.Tyr261Ser)
c.665A>C (p.Tyr222Ser)
c.683A>C (p.Tyr228Ser)
c.473A>C (p.Tyr158Ser)
c.491A>C (p.Tyr164Ser)
2g.127423370A>GCA348400129PROCc.497A>G (p.Tyr166Cys)
c.82A>G
c.599A>G (p.Tyr200Cys)
c.440A>G (p.Tyr147Cys)
n.83A>G
c.680A>G (p.Tyr227Cys)
c.662A>G (p.Tyr221Cys)
c.560A>G (p.Tyr187Cys)
c.740A>G (p.Tyr247Cys)
c.842A>G (p.Tyr281Cys)
c.782A>G (p.Tyr261Cys)
c.665A>G (p.Tyr222Cys)
c.683A>G (p.Tyr228Cys)
c.473A>G (p.Tyr158Cys)
c.491A>G (p.Tyr164Cys)
 ClinVar
2g.127423370A>TCA348400127PROCc.497A>T (p.Tyr166Phe)
c.82A>T
c.599A>T (p.Tyr200Phe)
c.440A>T (p.Tyr147Phe)
n.83A>T
c.680A>T (p.Tyr227Phe)
c.662A>T (p.Tyr221Phe)
c.560A>T (p.Tyr187Phe)
c.740A>T (p.Tyr247Phe)
c.842A>T (p.Tyr281Phe)
c.782A>T (p.Tyr261Phe)
c.665A>T (p.Tyr222Phe)
c.683A>T (p.Tyr228Phe)
c.473A>T (p.Tyr158Phe)
c.491A>T (p.Tyr164Phe)
2g.127423371C>ACA348400133PROCc.498C>A (p.Tyr166Ter)
c.83C>A
c.600C>A (p.Tyr200Ter)
c.441C>A (p.Tyr147Ter)
n.84C>A
c.681C>A (p.Tyr227Ter)
c.663C>A (p.Tyr221Ter)
c.561C>A (p.Tyr187Ter)
c.741C>A (p.Tyr247Ter)
c.843C>A (p.Tyr281Ter)
c.783C>A (p.Tyr261Ter)
c.666C>A (p.Tyr222Ter)
c.684C>A (p.Tyr228Ter)
c.474C>A (p.Tyr158Ter)
c.492C>A (p.Tyr164Ter)
2g.127423371C>GCA348400136PROCc.498C>G (p.Tyr166Ter)
c.83C>G
c.600C>G (p.Tyr200Ter)
c.441C>G (p.Tyr147Ter)
n.84C>G
c.681C>G (p.Tyr227Ter)
c.663C>G (p.Tyr221Ter)
c.561C>G (p.Tyr187Ter)
c.741C>G (p.Tyr247Ter)
c.843C>G (p.Tyr281Ter)
c.783C>G (p.Tyr261Ter)
c.666C>G (p.Tyr222Ter)
c.684C>G (p.Tyr228Ter)
c.474C>G (p.Tyr158Ter)
c.492C>G (p.Tyr164Ter)
2g.127423371C>TCA428617607PROCc.498C>T (p.Tyr166=)
c.83C>T
c.600C>T (p.Tyr200=)
c.441C>T (p.Tyr147=)
n.84C>T
c.681C>T (p.Tyr227=)
c.663C>T (p.Tyr221=)
c.561C>T (p.Tyr187=)
c.741C>T (p.Tyr247=)
c.843C>T (p.Tyr281=)
c.783C>T (p.Tyr261=)
c.666C>T (p.Tyr222=)
c.684C>T (p.Tyr228=)
c.474C>T (p.Tyr158=)
c.492C>T (p.Tyr164=)
2g.127423372A=CA1286882162PROCc.499A= (p.Lys167=)
c.84A=
c.601A= (p.Lys201=)
c.442A= (p.Lys148=)
n.85A=
c.682A= (p.Lys228=)
c.664A= (p.Lys222=)
c.562A= (p.Lys188=)
c.742A= (p.Lys248=)
c.844A= (p.Lys282=)
c.784A= (p.Lys262=)
c.667A= (p.Lys223=)
c.685A= (p.Lys229=)
c.475A= (p.Lys159=)
c.493A= (p.Lys165=)
2g.127423372A>CCA348400137PROCc.499A>C (p.Lys167Gln)
c.84A>C
c.601A>C (p.Lys201Gln)
c.442A>C (p.Lys148Gln)
n.85A>C
c.682A>C (p.Lys228Gln)
c.664A>C (p.Lys222Gln)
c.562A>C (p.Lys188Gln)
c.742A>C (p.Lys248Gln)
c.844A>C (p.Lys282Gln)
c.784A>C (p.Lys262Gln)
c.667A>C (p.Lys223Gln)
c.685A>C (p.Lys229Gln)
c.475A>C (p.Lys159Gln)
c.493A>C (p.Lys165Gln)
2g.127423372A>GCA1859358PROCc.499A>G (p.Lys167Glu)
c.84A>G
c.601A>G (p.Lys201Glu)
c.442A>G (p.Lys148Glu)
n.85A>G
c.682A>G (p.Lys228Glu)
c.664A>G (p.Lys222Glu)
c.562A>G (p.Lys188Glu)
c.742A>G (p.Lys248Glu)
c.844A>G (p.Lys282Glu)
c.784A>G (p.Lys262Glu)
c.667A>G (p.Lys223Glu)
c.685A>G (p.Lys229Glu)
c.475A>G (p.Lys159Glu)
c.493A>G (p.Lys165Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.127423372A>TCA348400141PROCc.499A>T (p.Lys167Ter)
c.84A>T
c.601A>T (p.Lys201Ter)
c.442A>T (p.Lys148Ter)
n.85A>T
c.682A>T (p.Lys228Ter)
c.664A>T (p.Lys222Ter)
c.562A>T (p.Lys188Ter)
c.742A>T (p.Lys248Ter)
c.844A>T (p.Lys282Ter)
c.784A>T (p.Lys262Ter)
c.667A>T (p.Lys223Ter)
c.685A>T (p.Lys229Ter)
c.475A>T (p.Lys159Ter)
c.493A>T (p.Lys165Ter)
2g.127423373A>CCA348400142PROCc.500A>C (p.Lys167Thr)
c.85A>C
c.602A>C (p.Lys201Thr)
c.443A>C (p.Lys148Thr)
n.86A>C
c.683A>C (p.Lys228Thr)
c.665A>C (p.Lys222Thr)
c.563A>C (p.Lys188Thr)
c.743A>C (p.Lys248Thr)
c.845A>C (p.Lys282Thr)
c.785A>C (p.Lys262Thr)
c.668A>C (p.Lys223Thr)
c.686A>C (p.Lys229Thr)
c.476A>C (p.Lys159Thr)
c.494A>C (p.Lys165Thr)
2g.127423373A>GCA348400143PROCc.500A>G (p.Lys167Arg)
c.85A>G
c.602A>G (p.Lys201Arg)
c.443A>G (p.Lys148Arg)
n.86A>G
c.683A>G (p.Lys228Arg)
c.665A>G (p.Lys222Arg)
c.563A>G (p.Lys188Arg)
c.743A>G (p.Lys248Arg)
c.845A>G (p.Lys282Arg)
c.785A>G (p.Lys262Arg)
c.668A>G (p.Lys223Arg)
c.686A>G (p.Lys229Arg)
c.476A>G (p.Lys159Arg)
c.494A>G (p.Lys165Arg)
 gnomAD v4
2g.127423373A>TCA348400144PROCc.500A>T (p.Lys167Met)
c.85A>T
c.602A>T (p.Lys201Met)
c.443A>T (p.Lys148Met)
n.86A>T
c.683A>T (p.Lys228Met)
c.665A>T (p.Lys222Met)
c.563A>T (p.Lys188Met)
c.743A>T (p.Lys248Met)
c.845A>T (p.Lys282Met)
c.785A>T (p.Lys262Met)
c.668A>T (p.Lys223Met)
c.686A>T (p.Lys229Met)
c.476A>T (p.Lys159Met)
c.494A>T (p.Lys165Met)
2g.127423374G>ACA428617609PROCc.501G>A (p.Lys167=)
c.86G>A
c.603G>A (p.Lys201=)
c.444G>A (p.Lys148=)
n.87G>A
c.684G>A (p.Lys228=)
c.666G>A (p.Lys222=)
c.564G>A (p.Lys188=)
c.744G>A (p.Lys248=)
c.846G>A (p.Lys282=)
c.786G>A (p.Lys262=)
c.669G>A (p.Lys223=)
c.687G>A (p.Lys229=)
c.477G>A (p.Lys159=)
c.495G>A (p.Lys165=)
 gnomAD v4
2g.127423374G>CCA348400147PROCc.501G>C (p.Lys167Asn)
c.86G>C
c.603G>C (p.Lys201Asn)
c.444G>C (p.Lys148Asn)
n.87G>C
c.684G>C (p.Lys228Asn)
c.666G>C (p.Lys222Asn)
c.564G>C (p.Lys188Asn)
c.744G>C (p.Lys248Asn)
c.846G>C (p.Lys282Asn)
c.786G>C (p.Lys262Asn)
c.669G>C (p.Lys223Asn)
c.687G>C (p.Lys229Asn)
c.477G>C (p.Lys159Asn)
c.495G>C (p.Lys165Asn)
2g.127423374G>TCA348400150PROCc.501G>T (p.Lys167Asn)
c.86G>T
c.603G>T (p.Lys201Asn)
c.444G>T (p.Lys148Asn)
n.87G>T
c.684G>T (p.Lys228Asn)
c.666G>T (p.Lys222Asn)
c.564G>T (p.Lys188Asn)
c.744G>T (p.Lys248Asn)
c.846G>T (p.Lys282Asn)
c.786G>T (p.Lys262Asn)
c.669G>T (p.Lys223Asn)
c.687G>T (p.Lys229Asn)
c.477G>T (p.Lys159Asn)
c.495G>T (p.Lys165Asn)
 gnomAD v4
2g.127423375C>ACA348400153PROCc.502C>A (p.Leu168Met)
c.87C>A
c.604C>A (p.Leu202Met)
c.445C>A (p.Leu149Met)
n.88C>A
c.685C>A (p.Leu229Met)
c.667C>A (p.Leu223Met)
c.565C>A (p.Leu189Met)
c.745C>A (p.Leu249Met)
c.847C>A (p.Leu283Met)
c.787C>A (p.Leu263Met)
c.670C>A (p.Leu224Met)
c.688C>A (p.Leu230Met)
c.478C>A (p.Leu160Met)
c.496C>A (p.Leu166Met)
 gnomAD v4
2g.127423375C>GCA348400155PROCc.502C>G (p.Leu168Val)
c.87C>G
c.604C>G (p.Leu202Val)
c.445C>G (p.Leu149Val)
n.88C>G
c.685C>G (p.Leu229Val)
c.667C>G (p.Leu223Val)
c.565C>G (p.Leu189Val)
c.745C>G (p.Leu249Val)
c.847C>G (p.Leu283Val)
c.787C>G (p.Leu263Val)
c.670C>G (p.Leu224Val)
c.688C>G (p.Leu230Val)
c.478C>G (p.Leu160Val)
c.496C>G (p.Leu166Val)
2g.127423375C>TCA428617613PROCc.502C>T (p.Leu168=)
c.87C>T
c.604C>T (p.Leu202=)
c.445C>T (p.Leu149=)
n.88C>T
c.685C>T (p.Leu229=)
c.667C>T (p.Leu223=)
c.565C>T (p.Leu189=)
c.745C>T (p.Leu249=)
c.847C>T (p.Leu283=)
c.787C>T (p.Leu263=)
c.670C>T (p.Leu224=)
c.688C>T (p.Leu230=)
c.478C>T (p.Leu160=)
c.496C>T (p.Leu166=)
2g.127423376T>ACA348400156PROCc.503T>A (p.Leu168Gln)
c.88T>A
c.605T>A (p.Leu202Gln)
c.446T>A (p.Leu149Gln)
n.89T>A
c.686T>A (p.Leu229Gln)
c.668T>A (p.Leu223Gln)
c.566T>A (p.Leu189Gln)
c.746T>A (p.Leu249Gln)
c.848T>A (p.Leu283Gln)
c.788T>A (p.Leu263Gln)
c.671T>A (p.Leu224Gln)
c.689T>A (p.Leu230Gln)
c.479T>A (p.Leu160Gln)
c.497T>A (p.Leu166Gln)
2g.127423376T>CCA348400160PROCc.503T>C (p.Leu168Pro)
c.88T>C
c.605T>C (p.Leu202Pro)
c.446T>C (p.Leu149Pro)
n.89T>C
c.686T>C (p.Leu229Pro)
c.668T>C (p.Leu223Pro)
c.566T>C (p.Leu189Pro)
c.746T>C (p.Leu249Pro)
c.848T>C (p.Leu283Pro)
c.788T>C (p.Leu263Pro)
c.671T>C (p.Leu224Pro)
c.689T>C (p.Leu230Pro)
c.479T>C (p.Leu160Pro)
c.497T>C (p.Leu166Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423376T>GCA348400157PROCc.503T>G (p.Leu168Arg)
c.88T>G
c.605T>G (p.Leu202Arg)
c.446T>G (p.Leu149Arg)
n.89T>G
c.686T>G (p.Leu229Arg)
c.668T>G (p.Leu223Arg)
c.566T>G (p.Leu189Arg)
c.746T>G (p.Leu249Arg)
c.848T>G (p.Leu283Arg)
c.788T>G (p.Leu263Arg)
c.671T>G (p.Leu224Arg)
c.689T>G (p.Leu230Arg)
c.479T>G (p.Leu160Arg)
c.497T>G (p.Leu166Arg)
2g.127423376T=CA1286882163PROCc.503T= (p.Leu168=)
c.88T=
c.605T= (p.Leu202=)
c.446T= (p.Leu149=)
n.89T=
c.686T= (p.Leu229=)
c.668T= (p.Leu223=)
c.566T= (p.Leu189=)
c.746T= (p.Leu249=)
c.848T= (p.Leu283=)
c.788T= (p.Leu263=)
c.671T= (p.Leu224=)
c.689T= (p.Leu230=)
c.479T= (p.Leu160=)
c.497T= (p.Leu166=)
2g.127423377G>ACA428617614PROCc.504G>A (p.Leu168=)
c.89G>A
c.606G>A (p.Leu202=)
c.447G>A (p.Leu149=)
n.90G>A
c.687G>A (p.Leu229=)
c.669G>A (p.Leu223=)
c.567G>A (p.Leu189=)
c.747G>A (p.Leu249=)
c.849G>A (p.Leu283=)
c.789G>A (p.Leu263=)
c.672G>A (p.Leu224=)
c.690G>A (p.Leu230=)
c.480G>A (p.Leu160=)
c.498G>A (p.Leu166=)
 gnomAD v4
2g.127423377G>CCA428617616PROCc.504G>C (p.Leu168=)
c.89G>C
c.606G>C (p.Leu202=)
c.447G>C (p.Leu149=)
n.90G>C
c.687G>C (p.Leu229=)
c.669G>C (p.Leu223=)
c.567G>C (p.Leu189=)
c.747G>C (p.Leu249=)
c.849G>C (p.Leu283=)
c.789G>C (p.Leu263=)
c.672G>C (p.Leu224=)
c.690G>C (p.Leu230=)
c.480G>C (p.Leu160=)
c.498G>C (p.Leu166=)
 dbSNP gnomAD v2 gnomAD v4
2g.127423377G=CA1286882164PROCc.504G= (p.Leu168=)
c.89G=
c.606G= (p.Leu202=)
c.447G= (p.Leu149=)
n.90G=
c.687G= (p.Leu229=)
c.669G= (p.Leu223=)
c.567G= (p.Leu189=)
c.747G= (p.Leu249=)
c.849G= (p.Leu283=)
c.789G= (p.Leu263=)
c.672G= (p.Leu224=)
c.690G= (p.Leu230=)
c.480G= (p.Leu160=)
c.498G= (p.Leu166=)
2g.127423377G>TCA428617618PROCc.504G>T (p.Leu168=)
c.89G>T
c.606G>T (p.Leu202=)
c.447G>T (p.Leu149=)
n.90G>T
c.687G>T (p.Leu229=)
c.669G>T (p.Leu223=)
c.567G>T (p.Leu189=)
c.747G>T (p.Leu249=)
c.849G>T (p.Leu283=)
c.789G>T (p.Leu263=)
c.672G>T (p.Leu224=)
c.690G>T (p.Leu230=)
c.480G>T (p.Leu160=)
c.498G>T (p.Leu166=)
 gnomAD v4
2g.127423381delCA2660996467PROCc.508del (p.Asp170ThrfsTer10)
c.93del
c.610del (p.Asp204ThrfsTer10)
c.451del (p.Asp151ThrfsTer10)
n.94del
c.691del (p.Asp231ThrfsTer10)
c.673del (p.Asp225ThrfsTer10)
c.571del (p.Asp191ThrfsTer10)
c.751del (p.Asp251ThrfsTer10)
c.853del (p.Asp285ThrfsTer10)
c.793del (p.Asp265ThrfsTer10)
c.676del (p.Asp226ThrfsTer10)
c.694del (p.Asp232ThrfsTer10)
c.484del (p.Asp162ThrfsTer10)
c.502del (p.Asp168ThrfsTer10)
 gnomAD v4
2g.127423378G>ACA55345532PROCc.505G>A (p.Gly169Arg)
c.90G>A
c.607G>A (p.Gly203Arg)
c.448G>A (p.Gly150Arg)
n.91G>A
c.688G>A (p.Gly230Arg)
c.670G>A (p.Gly224Arg)
c.568G>A (p.Gly190Arg)
c.748G>A (p.Gly250Arg)
c.850G>A (p.Gly284Arg)
c.790G>A (p.Gly264Arg)
c.673G>A (p.Gly225Arg)
c.691G>A (p.Gly231Arg)
c.481G>A (p.Gly161Arg)
c.499G>A (p.Gly167Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423378G>CCA348400165PROCc.505G>C (p.Gly169Arg)
c.90G>C
c.607G>C (p.Gly203Arg)
c.448G>C (p.Gly150Arg)
n.91G>C
c.688G>C (p.Gly230Arg)
c.670G>C (p.Gly224Arg)
c.568G>C (p.Gly190Arg)
c.748G>C (p.Gly250Arg)
c.850G>C (p.Gly284Arg)
c.790G>C (p.Gly264Arg)
c.673G>C (p.Gly225Arg)
c.691G>C (p.Gly231Arg)
c.481G>C (p.Gly161Arg)
c.499G>C (p.Gly167Arg)
2g.127423378G=CA1286882165PROCc.505G= (p.Gly169=)
c.90G=
c.607G= (p.Gly203=)
c.448G= (p.Gly150=)
n.91G=
c.688G= (p.Gly230=)
c.670G= (p.Gly224=)
c.568G= (p.Gly190=)
c.748G= (p.Gly250=)
c.850G= (p.Gly284=)
c.790G= (p.Gly264=)
c.673G= (p.Gly225=)
c.691G= (p.Gly231=)
c.481G= (p.Gly161=)
c.499G= (p.Gly167=)
2g.127423378G>TCA55345547PROCc.505G>T (p.Gly169Trp)
c.90G>T
c.607G>T (p.Gly203Trp)
c.448G>T (p.Gly150Trp)
n.91G>T
c.688G>T (p.Gly230Trp)
c.670G>T (p.Gly224Trp)
c.568G>T (p.Gly190Trp)
c.748G>T (p.Gly250Trp)
c.850G>T (p.Gly284Trp)
c.790G>T (p.Gly264Trp)
c.673G>T (p.Gly225Trp)
c.691G>T (p.Gly231Trp)
c.481G>T (p.Gly161Trp)
c.499G>T (p.Gly167Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423379G>ACA348400168PROCc.506G>A (p.Gly169Glu)
c.91G>A
c.608G>A (p.Gly203Glu)
c.449G>A (p.Gly150Glu)
n.92G>A
c.689G>A (p.Gly230Glu)
c.671G>A (p.Gly224Glu)
c.569G>A (p.Gly190Glu)
c.749G>A (p.Gly250Glu)
c.851G>A (p.Gly284Glu)
c.791G>A (p.Gly264Glu)
c.674G>A (p.Gly225Glu)
c.692G>A (p.Gly231Glu)
c.482G>A (p.Gly161Glu)
c.500G>A (p.Gly167Glu)
 gnomAD v4
2g.127423379G>CCA348400169PROCc.506G>C (p.Gly169Ala)
c.91G>C
c.608G>C (p.Gly203Ala)
c.449G>C (p.Gly150Ala)
n.92G>C
c.689G>C (p.Gly230Ala)
c.671G>C (p.Gly224Ala)
c.569G>C (p.Gly190Ala)
c.749G>C (p.Gly250Ala)
c.851G>C (p.Gly284Ala)
c.791G>C (p.Gly264Ala)
c.674G>C (p.Gly225Ala)
c.692G>C (p.Gly231Ala)
c.482G>C (p.Gly161Ala)
c.500G>C (p.Gly167Ala)
 gnomAD v4
2g.127423379G>TCA348400170PROCc.506G>T (p.Gly169Val)
c.91G>T
c.608G>T (p.Gly203Val)
c.449G>T (p.Gly150Val)
n.92G>T
c.689G>T (p.Gly230Val)
c.671G>T (p.Gly224Val)
c.569G>T (p.Gly190Val)
c.749G>T (p.Gly250Val)
c.851G>T (p.Gly284Val)
c.791G>T (p.Gly264Val)
c.674G>T (p.Gly225Val)
c.692G>T (p.Gly231Val)
c.482G>T (p.Gly161Val)
c.500G>T (p.Gly167Val)
 gnomAD v4
2g.127423380G>ACA428617620PROCc.507G>A (p.Gly169=)
c.92G>A
c.609G>A (p.Gly203=)
c.450G>A (p.Gly150=)
n.93G>A
c.690G>A (p.Gly230=)
c.672G>A (p.Gly224=)
c.570G>A (p.Gly190=)
c.750G>A (p.Gly250=)
c.852G>A (p.Gly284=)
c.792G>A (p.Gly264=)
c.675G>A (p.Gly225=)
c.693G>A (p.Gly231=)
c.483G>A (p.Gly161=)
c.501G>A (p.Gly167=)
 COSMIC COSMIC
2g.127423380G>CCA428617621PROCc.507G>C (p.Gly169=)
c.92G>C
c.609G>C (p.Gly203=)
c.450G>C (p.Gly150=)
n.93G>C
c.690G>C (p.Gly230=)
c.672G>C (p.Gly224=)
c.570G>C (p.Gly190=)
c.750G>C (p.Gly250=)
c.852G>C (p.Gly284=)
c.792G>C (p.Gly264=)
c.675G>C (p.Gly225=)
c.693G>C (p.Gly231=)
c.483G>C (p.Gly161=)
c.501G>C (p.Gly167=)
2g.127423380G>TCA428617622PROCc.507G>T (p.Gly169=)
c.92G>T
c.609G>T (p.Gly203=)
c.450G>T (p.Gly150=)
n.93G>T
c.690G>T (p.Gly230=)
c.672G>T (p.Gly224=)
c.570G>T (p.Gly190=)
c.750G>T (p.Gly250=)
c.852G>T (p.Gly284=)
c.792G>T (p.Gly264=)
c.675G>T (p.Gly225=)
c.693G>T (p.Gly231=)
c.483G>T (p.Gly161=)
c.501G>T (p.Gly167=)
 gnomAD v4
2g.127423381G>ACA348400172PROCc.508G>A (p.Asp170Asn)
c.93G>A
c.610G>A (p.Asp204Asn)
c.451G>A (p.Asp151Asn)
n.94G>A
c.691G>A (p.Asp231Asn)
c.673G>A (p.Asp225Asn)
c.571G>A (p.Asp191Asn)
c.751G>A (p.Asp251Asn)
c.853G>A (p.Asp285Asn)
c.793G>A (p.Asp265Asn)
c.676G>A (p.Asp226Asn)
c.694G>A (p.Asp232Asn)
c.484G>A (p.Asp162Asn)
c.502G>A (p.Asp168Asn)
 gnomAD v4
2g.127423381G>CCA348400174PROCc.508G>C (p.Asp170His)
c.93G>C
c.610G>C (p.Asp204His)
c.451G>C (p.Asp151His)
n.94G>C
c.691G>C (p.Asp231His)
c.673G>C (p.Asp225His)
c.571G>C (p.Asp191His)
c.751G>C (p.Asp251His)
c.853G>C (p.Asp285His)
c.793G>C (p.Asp265His)
c.676G>C (p.Asp226His)
c.694G>C (p.Asp232His)
c.484G>C (p.Asp162His)
c.502G>C (p.Asp168His)
2g.127423381G>TCA348400181PROCc.508G>T (p.Asp170Tyr)
c.93G>T
c.610G>T (p.Asp204Tyr)
c.451G>T (p.Asp151Tyr)
n.94G>T
c.691G>T (p.Asp231Tyr)
c.673G>T (p.Asp225Tyr)
c.571G>T (p.Asp191Tyr)
c.751G>T (p.Asp251Tyr)
c.853G>T (p.Asp285Tyr)
c.793G>T (p.Asp265Tyr)
c.676G>T (p.Asp226Tyr)
c.694G>T (p.Asp232Tyr)
c.484G>T (p.Asp162Tyr)
c.502G>T (p.Asp168Tyr)
 ClinVar dbSNP gnomAD v4
2g.127423382A=CA1286882166PROCc.509A= (p.Asp170=)
c.94A=
c.611A= (p.Asp204=)
c.452A= (p.Asp151=)
n.95A=
c.692A= (p.Asp231=)
c.674A= (p.Asp225=)
c.572A= (p.Asp191=)
c.752A= (p.Asp251=)
c.854A= (p.Asp285=)
c.794A= (p.Asp265=)
c.677A= (p.Asp226=)
c.695A= (p.Asp232=)
c.485A= (p.Asp162=)
c.503A= (p.Asp168=)
2g.127423382A>CCA348400183PROCc.509A>C (p.Asp170Ala)
c.94A>C
c.611A>C (p.Asp204Ala)
c.452A>C (p.Asp151Ala)
n.95A>C
c.692A>C (p.Asp231Ala)
c.674A>C (p.Asp225Ala)
c.572A>C (p.Asp191Ala)
c.752A>C (p.Asp251Ala)
c.854A>C (p.Asp285Ala)
c.794A>C (p.Asp265Ala)
c.677A>C (p.Asp226Ala)
c.695A>C (p.Asp232Ala)
c.485A>C (p.Asp162Ala)
c.503A>C (p.Asp168Ala)
2g.127423382A>GCA348400185PROCc.509A>G (p.Asp170Gly)
c.94A>G
c.611A>G (p.Asp204Gly)
c.452A>G (p.Asp151Gly)
n.95A>G
c.692A>G (p.Asp231Gly)
c.674A>G (p.Asp225Gly)
c.572A>G (p.Asp191Gly)
c.752A>G (p.Asp251Gly)
c.854A>G (p.Asp285Gly)
c.794A>G (p.Asp265Gly)
c.677A>G (p.Asp226Gly)
c.695A>G (p.Asp232Gly)
c.485A>G (p.Asp162Gly)
c.503A>G (p.Asp168Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.127423382A>TCA348400186PROCc.509A>T (p.Asp170Val)
c.94A>T
c.611A>T (p.Asp204Val)
c.452A>T (p.Asp151Val)
n.95A>T
c.692A>T (p.Asp231Val)
c.674A>T (p.Asp225Val)
c.572A>T (p.Asp191Val)
c.752A>T (p.Asp251Val)
c.854A>T (p.Asp285Val)
c.794A>T (p.Asp265Val)
c.677A>T (p.Asp226Val)
c.695A>T (p.Asp232Val)
c.485A>T (p.Asp162Val)
c.503A>T (p.Asp168Val)
2g.127423383C>ACA348400188PROCc.510C>A (p.Asp170Glu)
c.95C>A
c.612C>A (p.Asp204Glu)
c.453C>A (p.Asp151Glu)
n.96C>A
c.693C>A (p.Asp231Glu)
c.675C>A (p.Asp225Glu)
c.573C>A (p.Asp191Glu)
c.753C>A (p.Asp251Glu)
c.855C>A (p.Asp285Glu)
c.795C>A (p.Asp265Glu)
c.678C>A (p.Asp226Glu)
c.696C>A (p.Asp232Glu)
c.486C>A (p.Asp162Glu)
c.504C>A (p.Asp168Glu)
 gnomAD v4
2g.127423383C>GCA348400189PROCc.510C>G (p.Asp170Glu)
c.95C>G
c.612C>G (p.Asp204Glu)
c.453C>G (p.Asp151Glu)
n.96C>G
c.693C>G (p.Asp231Glu)
c.675C>G (p.Asp225Glu)
c.573C>G (p.Asp191Glu)
c.753C>G (p.Asp251Glu)
c.855C>G (p.Asp285Glu)
c.795C>G (p.Asp265Glu)
c.678C>G (p.Asp226Glu)
c.696C>G (p.Asp232Glu)
c.486C>G (p.Asp162Glu)
c.504C>G (p.Asp168Glu)
2g.127423383C>TCA428617626PROCc.510C>T (p.Asp170=)
c.95C>T
c.612C>T (p.Asp204=)
c.453C>T (p.Asp151=)
n.96C>T
c.693C>T (p.Asp231=)
c.675C>T (p.Asp225=)
c.573C>T (p.Asp191=)
c.753C>T (p.Asp251=)
c.855C>T (p.Asp285=)
c.795C>T (p.Asp265=)
c.678C>T (p.Asp226=)
c.696C>T (p.Asp232=)
c.486C>T (p.Asp162=)
c.504C>T (p.Asp168=)
 gnomAD v4
2g.127423384G>ACA348400196PROCc.511G>A (p.Asp171Asn)
c.96G>A
c.613G>A (p.Asp205Asn)
c.454G>A (p.Asp152Asn)
n.97G>A
c.694G>A (p.Asp232Asn)
c.676G>A (p.Asp226Asn)
c.574G>A (p.Asp192Asn)
c.754G>A (p.Asp252Asn)
c.856G>A (p.Asp286Asn)
c.796G>A (p.Asp266Asn)
c.679G>A (p.Asp227Asn)
c.697G>A (p.Asp233Asn)
c.487G>A (p.Asp163Asn)
c.505G>A (p.Asp169Asn)
 gnomAD v4
2g.127423384G>CCA348400192PROCc.511G>C (p.Asp171His)
c.96G>C
c.613G>C (p.Asp205His)
c.454G>C (p.Asp152His)
n.97G>C
c.694G>C (p.Asp232His)
c.676G>C (p.Asp226His)
c.574G>C (p.Asp192His)
c.754G>C (p.Asp252His)
c.856G>C (p.Asp286His)
c.796G>C (p.Asp266His)
c.679G>C (p.Asp227His)
c.697G>C (p.Asp233His)
c.487G>C (p.Asp163His)
c.505G>C (p.Asp169His)
 gnomAD v4
2g.127423384G>TCA348400194PROCc.511G>T (p.Asp171Tyr)
c.96G>T
c.613G>T (p.Asp205Tyr)
c.454G>T (p.Asp152Tyr)
n.97G>T
c.694G>T (p.Asp232Tyr)
c.676G>T (p.Asp226Tyr)
c.574G>T (p.Asp192Tyr)
c.754G>T (p.Asp252Tyr)
c.856G>T (p.Asp286Tyr)
c.796G>T (p.Asp266Tyr)
c.679G>T (p.Asp227Tyr)
c.697G>T (p.Asp233Tyr)
c.487G>T (p.Asp163Tyr)
c.505G>T (p.Asp169Tyr)
 gnomAD v4
2g.127423385A>CCA348400200PROCc.512A>C (p.Asp171Ala)
c.97A>C
c.614A>C (p.Asp205Ala)
c.455A>C (p.Asp152Ala)
n.98A>C
c.695A>C (p.Asp232Ala)
c.677A>C (p.Asp226Ala)
c.575A>C (p.Asp192Ala)
c.755A>C (p.Asp252Ala)
c.857A>C (p.Asp286Ala)
c.797A>C (p.Asp266Ala)
c.680A>C (p.Asp227Ala)
c.698A>C (p.Asp233Ala)
c.488A>C (p.Asp163Ala)
c.506A>C (p.Asp169Ala)
2g.127423385A>GCA348400207PROCc.512A>G (p.Asp171Gly)
c.97A>G
c.614A>G (p.Asp205Gly)
c.455A>G (p.Asp152Gly)
n.98A>G
c.695A>G (p.Asp232Gly)
c.677A>G (p.Asp226Gly)
c.575A>G (p.Asp192Gly)
c.755A>G (p.Asp252Gly)
c.857A>G (p.Asp286Gly)
c.797A>G (p.Asp266Gly)
c.680A>G (p.Asp227Gly)
c.698A>G (p.Asp233Gly)
c.488A>G (p.Asp163Gly)
c.506A>G (p.Asp169Gly)
2g.127423385A>TCA348400211PROCc.512A>T (p.Asp171Val)
c.97A>T
c.614A>T (p.Asp205Val)
c.455A>T (p.Asp152Val)
n.98A>T
c.695A>T (p.Asp232Val)
c.677A>T (p.Asp226Val)
c.575A>T (p.Asp192Val)
c.755A>T (p.Asp252Val)
c.857A>T (p.Asp286Val)
c.797A>T (p.Asp266Val)
c.680A>T (p.Asp227Val)
c.698A>T (p.Asp233Val)
c.488A>T (p.Asp163Val)
c.506A>T (p.Asp169Val)
2g.127423386C>ACA348400214PROCc.513C>A (p.Asp171Glu)
c.98C>A
c.615C>A (p.Asp205Glu)
c.456C>A (p.Asp152Glu)
n.99C>A
c.696C>A (p.Asp232Glu)
c.678C>A (p.Asp226Glu)
c.576C>A (p.Asp192Glu)
c.756C>A (p.Asp252Glu)
c.858C>A (p.Asp286Glu)
c.798C>A (p.Asp266Glu)
c.681C>A (p.Asp227Glu)
c.699C>A (p.Asp233Glu)
c.489C>A (p.Asp163Glu)
c.507C>A (p.Asp169Glu)
 gnomAD v4
2g.127423386C>GCA348400216PROCc.513C>G (p.Asp171Glu)
c.98C>G
c.615C>G (p.Asp205Glu)
c.456C>G (p.Asp152Glu)
n.99C>G
c.696C>G (p.Asp232Glu)
c.678C>G (p.Asp226Glu)
c.576C>G (p.Asp192Glu)
c.756C>G (p.Asp252Glu)
c.858C>G (p.Asp286Glu)
c.798C>G (p.Asp266Glu)
c.681C>G (p.Asp227Glu)
c.699C>G (p.Asp233Glu)
c.489C>G (p.Asp163Glu)
c.507C>G (p.Asp169Glu)
 gnomAD v4
2g.127423386C>TCA428617630PROCc.513C>T (p.Asp171=)
c.98C>T
c.615C>T (p.Asp205=)
c.456C>T (p.Asp152=)
n.99C>T
c.696C>T (p.Asp232=)
c.678C>T (p.Asp226=)
c.576C>T (p.Asp192=)
c.756C>T (p.Asp252=)
c.858C>T (p.Asp286=)
c.798C>T (p.Asp266=)
c.681C>T (p.Asp227=)
c.699C>T (p.Asp233=)
c.489C>T (p.Asp163=)
c.507C>T (p.Asp169=)
 gnomAD v4
2g.127423387C>ACA348400221PROCc.514C>A (p.Leu172Ile)
c.99C>A
c.616C>A (p.Leu206Ile)
c.457C>A (p.Leu153Ile)
n.100C>A
c.697C>A (p.Leu233Ile)
c.679C>A (p.Leu227Ile)
c.577C>A (p.Leu193Ile)
c.757C>A (p.Leu253Ile)
c.859C>A (p.Leu287Ile)
c.799C>A (p.Leu267Ile)
c.682C>A (p.Leu228Ile)
c.700C>A (p.Leu234Ile)
c.490C>A (p.Leu164Ile)
c.508C>A (p.Leu170Ile)
 gnomAD v4
2g.127423387C>GCA348400224PROCc.514C>G (p.Leu172Val)
c.99C>G
c.616C>G (p.Leu206Val)
c.457C>G (p.Leu153Val)
n.100C>G
c.697C>G (p.Leu233Val)
c.679C>G (p.Leu227Val)
c.577C>G (p.Leu193Val)
c.757C>G (p.Leu253Val)
c.859C>G (p.Leu287Val)
c.799C>G (p.Leu267Val)
c.682C>G (p.Leu228Val)
c.700C>G (p.Leu234Val)
c.490C>G (p.Leu164Val)
c.508C>G (p.Leu170Val)
2g.127423387C>TCA348400226PROCc.514C>T (p.Leu172Phe)
c.99C>T
c.616C>T (p.Leu206Phe)
c.457C>T (p.Leu153Phe)
n.100C>T
c.697C>T (p.Leu233Phe)
c.679C>T (p.Leu227Phe)
c.577C>T (p.Leu193Phe)
c.757C>T (p.Leu253Phe)
c.859C>T (p.Leu287Phe)
c.799C>T (p.Leu267Phe)
c.682C>T (p.Leu228Phe)
c.700C>T (p.Leu234Phe)
c.490C>T (p.Leu164Phe)
c.508C>T (p.Leu170Phe)
 gnomAD v4
2g.127423388T>ACA348400231PROCc.515T>A (p.Leu172His)
c.100T>A
c.617T>A (p.Leu206His)
c.458T>A (p.Leu153His)
n.101T>A
c.698T>A (p.Leu233His)
c.680T>A (p.Leu227His)
c.578T>A (p.Leu193His)
c.758T>A (p.Leu253His)
c.860T>A (p.Leu287His)
c.800T>A (p.Leu267His)
c.683T>A (p.Leu228His)
c.701T>A (p.Leu234His)
c.491T>A (p.Leu164His)
c.509T>A (p.Leu170His)
2g.127423388T>CCA348400236PROCc.515T>C (p.Leu172Pro)
c.100T>C
c.617T>C (p.Leu206Pro)
c.458T>C (p.Leu153Pro)
n.101T>C
c.698T>C (p.Leu233Pro)
c.680T>C (p.Leu227Pro)
c.578T>C (p.Leu193Pro)
c.758T>C (p.Leu253Pro)
c.860T>C (p.Leu287Pro)
c.800T>C (p.Leu267Pro)
c.683T>C (p.Leu228Pro)
c.701T>C (p.Leu234Pro)
c.491T>C (p.Leu164Pro)
c.509T>C (p.Leu170Pro)
2g.127423388T>GCA348400238PROCc.515T>G (p.Leu172Arg)
c.100T>G
c.617T>G (p.Leu206Arg)
c.458T>G (p.Leu153Arg)
n.101T>G
c.698T>G (p.Leu233Arg)
c.680T>G (p.Leu227Arg)
c.578T>G (p.Leu193Arg)
c.758T>G (p.Leu253Arg)
c.860T>G (p.Leu287Arg)
c.800T>G (p.Leu267Arg)
c.683T>G (p.Leu228Arg)
c.701T>G (p.Leu234Arg)
c.491T>G (p.Leu164Arg)
c.509T>G (p.Leu170Arg)
2g.127423389C>ACA428617632PROCc.516C>A (p.Leu172=)
c.101C>A
c.618C>A (p.Leu206=)
c.459C>A (p.Leu153=)
n.102C>A
c.699C>A (p.Leu233=)
c.681C>A (p.Leu227=)
c.579C>A (p.Leu193=)
c.759C>A (p.Leu253=)
c.861C>A (p.Leu287=)
c.801C>A (p.Leu267=)
c.684C>A (p.Leu228=)
c.702C>A (p.Leu234=)
c.492C>A (p.Leu164=)
c.510C>A (p.Leu170=)
 gnomAD v4
2g.127423389C>GCA428617635PROCc.516C>G (p.Leu172=)
c.101C>G
c.618C>G (p.Leu206=)
c.459C>G (p.Leu153=)
n.102C>G
c.699C>G (p.Leu233=)
c.681C>G (p.Leu227=)
c.579C>G (p.Leu193=)
c.759C>G (p.Leu253=)
c.861C>G (p.Leu287=)
c.801C>G (p.Leu267=)
c.684C>G (p.Leu228=)
c.702C>G (p.Leu234=)
c.492C>G (p.Leu164=)
c.510C>G (p.Leu170=)
2g.127423389C>TCA428617636PROCc.516C>T (p.Leu172=)
c.101C>T
c.618C>T (p.Leu206=)
c.459C>T (p.Leu153=)
n.102C>T
c.699C>T (p.Leu233=)
c.681C>T (p.Leu227=)
c.579C>T (p.Leu193=)
c.759C>T (p.Leu253=)
c.861C>T (p.Leu287=)
c.801C>T (p.Leu267=)
c.684C>T (p.Leu228=)
c.702C>T (p.Leu234=)
c.492C>T (p.Leu164=)
c.510C>T (p.Leu170=)
2g.127423390C>ACA348400244PROCc.517C>A (p.Leu173Met)
c.102C>A
c.619C>A (p.Leu207Met)
c.460C>A (p.Leu154Met)
n.103C>A
c.700C>A (p.Leu234Met)
c.682C>A (p.Leu228Met)
c.580C>A (p.Leu194Met)
c.760C>A (p.Leu254Met)
c.862C>A (p.Leu288Met)
c.802C>A (p.Leu268Met)
c.685C>A (p.Leu229Met)
c.703C>A (p.Leu235Met)
c.493C>A (p.Leu165Met)
c.511C>A (p.Leu171Met)
 gnomAD v4
2g.127423390C>GCA348400241PROCc.517C>G (p.Leu173Val)
c.102C>G
c.619C>G (p.Leu207Val)
c.460C>G (p.Leu154Val)
n.103C>G
c.700C>G (p.Leu234Val)
c.682C>G (p.Leu228Val)
c.580C>G (p.Leu194Val)
c.760C>G (p.Leu254Val)
c.862C>G (p.Leu288Val)
c.802C>G (p.Leu268Val)
c.685C>G (p.Leu229Val)
c.703C>G (p.Leu235Val)
c.493C>G (p.Leu165Val)
c.511C>G (p.Leu171Val)
2g.127423390C>TCA428617638PROCc.517C>T (p.Leu173=)
c.102C>T
c.619C>T (p.Leu207=)
c.460C>T (p.Leu154=)
n.103C>T
c.700C>T (p.Leu234=)
c.682C>T (p.Leu228=)
c.580C>T (p.Leu194=)
c.760C>T (p.Leu254=)
c.862C>T (p.Leu288=)
c.802C>T (p.Leu268=)
c.685C>T (p.Leu229=)
c.703C>T (p.Leu235=)
c.493C>T (p.Leu165=)
c.511C>T (p.Leu171=)
 gnomAD v4
2g.127423391T>ACA348400246PROCc.518T>A (p.Leu173Gln)
c.103T>A
c.620T>A (p.Leu207Gln)
c.461T>A (p.Leu154Gln)
n.104T>A
c.701T>A (p.Leu234Gln)
c.683T>A (p.Leu228Gln)
c.581T>A (p.Leu194Gln)
c.761T>A (p.Leu254Gln)
c.863T>A (p.Leu288Gln)
c.803T>A (p.Leu268Gln)
c.686T>A (p.Leu229Gln)
c.704T>A (p.Leu235Gln)
c.494T>A (p.Leu165Gln)
c.512T>A (p.Leu171Gln)
2g.127423391T>CCA348400248PROCc.518T>C (p.Leu173Pro)
c.103T>C
c.620T>C (p.Leu207Pro)
c.461T>C (p.Leu154Pro)
n.104T>C
c.701T>C (p.Leu234Pro)
c.683T>C (p.Leu228Pro)
c.581T>C (p.Leu194Pro)
c.761T>C (p.Leu254Pro)
c.863T>C (p.Leu288Pro)
c.803T>C (p.Leu268Pro)
c.686T>C (p.Leu229Pro)
c.704T>C (p.Leu235Pro)
c.494T>C (p.Leu165Pro)
c.512T>C (p.Leu171Pro)
 gnomAD v4
2g.127423391T>GCA348400249PROCc.518T>G (p.Leu173Arg)
c.103T>G
c.620T>G (p.Leu207Arg)
c.461T>G (p.Leu154Arg)
n.104T>G
c.701T>G (p.Leu234Arg)
c.683T>G (p.Leu228Arg)
c.581T>G (p.Leu194Arg)
c.761T>G (p.Leu254Arg)
c.863T>G (p.Leu288Arg)
c.803T>G (p.Leu268Arg)
c.686T>G (p.Leu229Arg)
c.704T>G (p.Leu235Arg)
c.494T>G (p.Leu165Arg)
c.512T>G (p.Leu171Arg)
2g.127423392G>ACA428617642PROCc.519G>A (p.Leu173=)
c.104G>A
c.621G>A (p.Leu207=)
c.462G>A (p.Leu154=)
n.105G>A
c.702G>A (p.Leu234=)
c.684G>A (p.Leu228=)
c.582G>A (p.Leu194=)
c.762G>A (p.Leu254=)
c.864G>A (p.Leu288=)
c.804G>A (p.Leu268=)
c.687G>A (p.Leu229=)
c.705G>A (p.Leu235=)
c.495G>A (p.Leu165=)
c.513G>A (p.Leu171=)
 gnomAD v4
2g.127423392G>CCA428617641PROCc.519G>C (p.Leu173=)
c.104G>C
c.621G>C (p.Leu207=)
c.462G>C (p.Leu154=)
n.105G>C
c.702G>C (p.Leu234=)
c.684G>C (p.Leu228=)
c.582G>C (p.Leu194=)
c.762G>C (p.Leu254=)
c.864G>C (p.Leu288=)
c.804G>C (p.Leu268=)
c.687G>C (p.Leu229=)
c.705G>C (p.Leu235=)
c.495G>C (p.Leu165=)
c.513G>C (p.Leu171=)
2g.127423392G>TCA428617640PROCc.519G>T (p.Leu173=)
c.104G>T
c.621G>T (p.Leu207=)
c.462G>T (p.Leu154=)
n.105G>T
c.702G>T (p.Leu234=)
c.684G>T (p.Leu228=)
c.582G>T (p.Leu194=)
c.762G>T (p.Leu254=)
c.864G>T (p.Leu288=)
c.804G>T (p.Leu268=)
c.687G>T (p.Leu229=)
c.705G>T (p.Leu235=)
c.495G>T (p.Leu165=)
c.513G>T (p.Leu171=)
 gnomAD v4
2g.127423393C>ACA348400250PROCc.520C>A (p.Gln174Lys)
c.105C>A
c.622C>A (p.Gln208Lys)
c.463C>A (p.Gln155Lys)
n.106C>A
c.703C>A (p.Gln235Lys)
c.685C>A (p.Gln229Lys)
c.583C>A (p.Gln195Lys)
c.763C>A (p.Gln255Lys)
c.865C>A (p.Gln289Lys)
c.805C>A (p.Gln269Lys)
c.688C>A (p.Gln230Lys)
c.706C>A (p.Gln236Lys)
c.496C>A (p.Gln166Lys)
c.514C>A (p.Gln172Lys)
 gnomAD v4
2g.127423393C=CA1286882167PROCc.520C= (p.Gln174=)
c.105C=
c.622C= (p.Gln208=)
c.463C= (p.Gln155=)
n.106C=
c.703C= (p.Gln235=)
c.685C= (p.Gln229=)
c.583C= (p.Gln195=)
c.763C= (p.Gln255=)
c.865C= (p.Gln289=)
c.805C= (p.Gln269=)
c.688C= (p.Gln230=)
c.706C= (p.Gln236=)
c.496C= (p.Gln166=)
c.514C= (p.Gln172=)
2g.127423393C>GCA348400251PROCc.520C>G (p.Gln174Glu)
c.105C>G
c.622C>G (p.Gln208Glu)
c.463C>G (p.Gln155Glu)
n.106C>G
c.703C>G (p.Gln235Glu)
c.685C>G (p.Gln229Glu)
c.583C>G (p.Gln195Glu)
c.763C>G (p.Gln255Glu)
c.865C>G (p.Gln289Glu)
c.805C>G (p.Gln269Glu)
c.688C>G (p.Gln230Glu)
c.706C>G (p.Gln236Glu)
c.496C>G (p.Gln166Glu)
c.514C>G (p.Gln172Glu)
2g.127423393C>TCA348400258PROCc.520C>T (p.Gln174Ter)
c.105C>T
c.622C>T (p.Gln208Ter)
c.463C>T (p.Gln155Ter)
n.106C>T
c.703C>T (p.Gln235Ter)
c.685C>T (p.Gln229Ter)
c.583C>T (p.Gln195Ter)
c.763C>T (p.Gln255Ter)
c.865C>T (p.Gln289Ter)
c.805C>T (p.Gln269Ter)
c.688C>T (p.Gln230Ter)
c.706C>T (p.Gln236Ter)
c.496C>T (p.Gln166Ter)
c.514C>T (p.Gln172Ter)
 ClinVar dbSNP gnomAD v4
2g.127423394A>CCA348400264PROCc.521A>C (p.Gln174Pro)
c.106A>C
c.623A>C (p.Gln208Pro)
c.464A>C (p.Gln155Pro)
n.107A>C
c.704A>C (p.Gln235Pro)
c.686A>C (p.Gln229Pro)
c.584A>C (p.Gln195Pro)
c.764A>C (p.Gln255Pro)
c.866A>C (p.Gln289Pro)
c.806A>C (p.Gln269Pro)
c.689A>C (p.Gln230Pro)
c.707A>C (p.Gln236Pro)
c.497A>C (p.Gln166Pro)
c.515A>C (p.Gln172Pro)
2g.127423394A>GCA348400261PROCc.521A>G (p.Gln174Arg)
c.106A>G
c.623A>G (p.Gln208Arg)
c.464A>G (p.Gln155Arg)
n.107A>G
c.704A>G (p.Gln235Arg)
c.686A>G (p.Gln229Arg)
c.584A>G (p.Gln195Arg)
c.764A>G (p.Gln255Arg)
c.866A>G (p.Gln289Arg)
c.806A>G (p.Gln269Arg)
c.689A>G (p.Gln230Arg)
c.707A>G (p.Gln236Arg)
c.497A>G (p.Gln166Arg)
c.515A>G (p.Gln172Arg)
 gnomAD v4
2g.127423394A>TCA348400262PROCc.521A>T (p.Gln174Leu)
c.106A>T
c.623A>T (p.Gln208Leu)
c.464A>T (p.Gln155Leu)
n.107A>T
c.704A>T (p.Gln235Leu)
c.686A>T (p.Gln229Leu)
c.584A>T (p.Gln195Leu)
c.764A>T (p.Gln255Leu)
c.866A>T (p.Gln289Leu)
c.806A>T (p.Gln269Leu)
c.689A>T (p.Gln230Leu)
c.707A>T (p.Gln236Leu)
c.497A>T (p.Gln166Leu)
c.515A>T (p.Gln172Leu)
 gnomAD v4
2g.127423395G>ACA428617646PROCc.522G>A (p.Gln174=)
c.107G>A
c.624G>A (p.Gln208=)
c.465G>A (p.Gln155=)
n.108G>A
c.705G>A (p.Gln235=)
c.687G>A (p.Gln229=)
c.585G>A (p.Gln195=)
c.765G>A (p.Gln255=)
c.867G>A (p.Gln289=)
c.807G>A (p.Gln269=)
c.690G>A (p.Gln230=)
c.708G>A (p.Gln236=)
c.498G>A (p.Gln166=)
c.516G>A (p.Gln172=)
 gnomAD v4
2g.127423395G>CCA348400265PROCc.522G>C (p.Gln174His)
c.107G>C
c.624G>C (p.Gln208His)
c.465G>C (p.Gln155His)
n.108G>C
c.705G>C (p.Gln235His)
c.687G>C (p.Gln229His)
c.585G>C (p.Gln195His)
c.765G>C (p.Gln255His)
c.867G>C (p.Gln289His)
c.807G>C (p.Gln269His)
c.690G>C (p.Gln230His)
c.708G>C (p.Gln236His)
c.498G>C (p.Gln166His)
c.516G>C (p.Gln172His)
2g.127423395G>TCA348400267PROCc.522G>T (p.Gln174His)
c.107G>T
c.624G>T (p.Gln208His)
c.465G>T (p.Gln155His)
n.108G>T
c.705G>T (p.Gln235His)
c.687G>T (p.Gln229His)
c.585G>T (p.Gln195His)
c.765G>T (p.Gln255His)
c.867G>T (p.Gln289His)
c.807G>T (p.Gln269His)
c.690G>T (p.Gln230His)
c.708G>T (p.Gln236His)
c.498G>T (p.Gln166His)
c.516G>T (p.Gln172His)
2g.127423396T>ACA348400270PROCc.523T>A (p.Cys175Ser)
c.108T>A
c.625T>A (p.Cys209Ser)
c.466T>A (p.Cys156Ser)
n.109T>A
c.706T>A (p.Cys236Ser)
c.688T>A (p.Cys230Ser)
c.586T>A (p.Cys196Ser)
c.766T>A (p.Cys256Ser)
c.868T>A (p.Cys290Ser)
c.808T>A (p.Cys270Ser)
c.691T>A (p.Cys231Ser)
c.709T>A (p.Cys237Ser)
c.499T>A (p.Cys167Ser)
c.517T>A (p.Cys173Ser)
2g.127423396T>CCA348400272PROCc.523T>C (p.Cys175Arg)
c.108T>C
c.625T>C (p.Cys209Arg)
c.466T>C (p.Cys156Arg)
n.109T>C
c.706T>C (p.Cys236Arg)
c.688T>C (p.Cys230Arg)
c.586T>C (p.Cys196Arg)
c.766T>C (p.Cys256Arg)
c.868T>C (p.Cys290Arg)
c.808T>C (p.Cys270Arg)
c.691T>C (p.Cys231Arg)
c.709T>C (p.Cys237Arg)
c.499T>C (p.Cys167Arg)
c.517T>C (p.Cys173Arg)
2g.127423396T>GCA348400274PROCc.523T>G (p.Cys175Gly)
c.108T>G
c.625T>G (p.Cys209Gly)
c.466T>G (p.Cys156Gly)
n.109T>G
c.706T>G (p.Cys236Gly)
c.688T>G (p.Cys230Gly)
c.586T>G (p.Cys196Gly)
c.766T>G (p.Cys256Gly)
c.868T>G (p.Cys290Gly)
c.808T>G (p.Cys270Gly)
c.691T>G (p.Cys231Gly)
c.709T>G (p.Cys237Gly)
c.499T>G (p.Cys167Gly)
c.517T>G (p.Cys173Gly)
2g.127423397G>ACA55345553PROCc.524G>A (p.Cys175Tyr)
c.109G>A
c.626G>A (p.Cys209Tyr)
c.467G>A (p.Cys156Tyr)
n.110G>A
c.707G>A (p.Cys236Tyr)
c.689G>A (p.Cys230Tyr)
c.587G>A (p.Cys196Tyr)
c.767G>A (p.Cys256Tyr)
c.869G>A (p.Cys290Tyr)
c.809G>A (p.Cys270Tyr)
c.692G>A (p.Cys231Tyr)
c.710G>A (p.Cys237Tyr)
c.500G>A (p.Cys167Tyr)
c.518G>A (p.Cys173Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.127423397G>CCA348400282PROCc.524G>C (p.Cys175Ser)
c.109G>C
c.626G>C (p.Cys209Ser)
c.467G>C (p.Cys156Ser)
n.110G>C
c.707G>C (p.Cys236Ser)
c.689G>C (p.Cys230Ser)
c.587G>C (p.Cys196Ser)
c.767G>C (p.Cys256Ser)
c.869G>C (p.Cys290Ser)
c.809G>C (p.Cys270Ser)
c.692G>C (p.Cys231Ser)
c.710G>C (p.Cys237Ser)
c.500G>C (p.Cys167Ser)
c.518G>C (p.Cys173Ser)
2g.127423397G=CA1286882168PROCc.524G= (p.Cys175=)
c.109G=
c.626G= (p.Cys209=)
c.467G= (p.Cys156=)
n.110G=
c.707G= (p.Cys236=)
c.689G= (p.Cys230=)
c.587G= (p.Cys196=)
c.767G= (p.Cys256=)
c.869G= (p.Cys290=)
c.809G= (p.Cys270=)
c.692G= (p.Cys231=)
c.710G= (p.Cys237=)
c.500G= (p.Cys167=)
c.518G= (p.Cys173=)
2g.127423397G>TCA348400279PROCc.524G>T (p.Cys175Phe)
c.109G>T
c.626G>T (p.Cys209Phe)
c.467G>T (p.Cys156Phe)
n.110G>T
c.707G>T (p.Cys236Phe)
c.689G>T (p.Cys230Phe)
c.587G>T (p.Cys196Phe)
c.767G>T (p.Cys256Phe)
c.869G>T (p.Cys290Phe)
c.809G>T (p.Cys270Phe)
c.692G>T (p.Cys231Phe)
c.710G>T (p.Cys237Phe)
c.500G>T (p.Cys167Phe)
c.518G>T (p.Cys173Phe)
 gnomAD v4
2g.127423398T>ACA348400284PROCc.525T>A (p.Cys175Ter)
c.110T>A
c.627T>A (p.Cys209Ter)
c.468T>A (p.Cys156Ter)
n.111T>A
c.708T>A (p.Cys236Ter)
c.690T>A (p.Cys230Ter)
c.588T>A (p.Cys196Ter)
c.768T>A (p.Cys256Ter)
c.870T>A (p.Cys290Ter)
c.810T>A (p.Cys270Ter)
c.693T>A (p.Cys231Ter)
c.711T>A (p.Cys237Ter)
c.501T>A (p.Cys167Ter)
c.519T>A (p.Cys173Ter)
 gnomAD v4
2g.127423398T>CCA428617648PROCc.525T>C (p.Cys175=)
c.110T>C
c.627T>C (p.Cys209=)
c.468T>C (p.Cys156=)
n.111T>C
c.708T>C (p.Cys236=)
c.690T>C (p.Cys230=)
c.588T>C (p.Cys196=)
c.768T>C (p.Cys256=)
c.870T>C (p.Cys290=)
c.810T>C (p.Cys270=)
c.693T>C (p.Cys231=)
c.711T>C (p.Cys237=)
c.501T>C (p.Cys167=)
c.519T>C (p.Cys173=)
 gnomAD v4
2g.127423398T>GCA348400286PROCc.525T>G (p.Cys175Trp)
c.110T>G
c.627T>G (p.Cys209Trp)
c.468T>G (p.Cys156Trp)
n.111T>G
c.708T>G (p.Cys236Trp)
c.690T>G (p.Cys230Trp)
c.588T>G (p.Cys196Trp)
c.768T>G (p.Cys256Trp)
c.870T>G (p.Cys290Trp)
c.810T>G (p.Cys270Trp)
c.693T>G (p.Cys231Trp)
c.711T>G (p.Cys237Trp)
c.501T>G (p.Cys167Trp)
c.519T>G (p.Cys173Trp)
2g.127423399C>ACA348400289PROCc.526C>A (p.His176Asn)
c.111C>A
c.628C>A (p.His210Asn)
c.469C>A (p.His157Asn)
n.112C>A
c.709C>A (p.His237Asn)
c.691C>A (p.His231Asn)
c.589C>A (p.His197Asn)
c.769C>A (p.His257Asn)
c.871C>A (p.His291Asn)
c.811C>A (p.His271Asn)
c.694C>A (p.His232Asn)
c.712C>A (p.His238Asn)
c.502C>A (p.His168Asn)
c.520C>A (p.His174Asn)
 gnomAD v4
2g.127423399C>GCA348400290PROCc.526C>G (p.His176Asp)
c.111C>G
c.628C>G (p.His210Asp)
c.469C>G (p.His157Asp)
n.112C>G
c.709C>G (p.His237Asp)
c.691C>G (p.His231Asp)
c.589C>G (p.His197Asp)
c.769C>G (p.His257Asp)
c.871C>G (p.His291Asp)
c.811C>G (p.His271Asp)
c.694C>G (p.His232Asp)
c.712C>G (p.His238Asp)
c.502C>G (p.His168Asp)
c.520C>G (p.His174Asp)
2g.127423399C>TCA348400292PROCc.526C>T (p.His176Tyr)
c.111C>T
c.628C>T (p.His210Tyr)
c.469C>T (p.His157Tyr)
n.112C>T
c.709C>T (p.His237Tyr)
c.691C>T (p.His231Tyr)
c.589C>T (p.His197Tyr)
c.769C>T (p.His257Tyr)
c.871C>T (p.His291Tyr)
c.811C>T (p.His271Tyr)
c.694C>T (p.His232Tyr)
c.712C>T (p.His238Tyr)
c.502C>T (p.His168Tyr)
c.520C>T (p.His174Tyr)
 gnomAD v4
2g.127423400A>CCA348400294PROCc.527A>C (p.His176Pro)
c.112A>C
c.629A>C (p.His210Pro)
c.470A>C (p.His157Pro)
n.113A>C
c.710A>C (p.His237Pro)
c.692A>C (p.His231Pro)
c.590A>C (p.His197Pro)
c.770A>C (p.His257Pro)
c.872A>C (p.His291Pro)
c.812A>C (p.His271Pro)
c.695A>C (p.His232Pro)
c.713A>C (p.His238Pro)
c.503A>C (p.His168Pro)
c.521A>C (p.His174Pro)
2g.127423400A>GCA348400295PROCc.527A>G (p.His176Arg)
c.112A>G
c.629A>G (p.His210Arg)
c.470A>G (p.His157Arg)
n.113A>G
c.710A>G (p.His237Arg)
c.692A>G (p.His231Arg)
c.590A>G (p.His197Arg)
c.770A>G (p.His257Arg)
c.872A>G (p.His291Arg)
c.812A>G (p.His271Arg)
c.695A>G (p.His232Arg)
c.713A>G (p.His238Arg)
c.503A>G (p.His168Arg)
c.521A>G (p.His174Arg)
 gnomAD v4
2g.127423400A>TCA348400296PROCc.527A>T (p.His176Leu)
c.112A>T
c.629A>T (p.His210Leu)
c.470A>T (p.His157Leu)
n.113A>T
c.710A>T (p.His237Leu)
c.692A>T (p.His231Leu)
c.590A>T (p.His197Leu)
c.770A>T (p.His257Leu)
c.872A>T (p.His291Leu)
c.812A>T (p.His271Leu)
c.695A>T (p.His232Leu)
c.713A>T (p.His238Leu)
c.503A>T (p.His168Leu)
c.521A>T (p.His174Leu)
2g.127423400_127423405delinsACCCCGCA1286882169PROCc.527_532delinsACCCCG (p.His176=)
c.112_117delinsACCCCG
c.629_634delinsACCCCG (p.His210=)
c.470_475delinsACCCCG (p.His157=)
n.113_118delinsACCCCG
c.710_715delinsACCCCG (p.His237=)
c.692_697delinsACCCCG (p.His231=)
c.590_595delinsACCCCG (p.His197=)
c.770_775delinsACCCCG (p.His257=)
c.872_877delinsACCCCG (p.His291=)
c.812_817delinsACCCCG (p.His271=)
c.695_700delinsACCCCG (p.His232=)
c.713_718delinsACCCCG (p.His238=)
c.503_508delinsACCCCG (p.His168=)
c.521_526delinsACCCCG (p.His174=)
2g.127423401C>ACA348400297PROCc.528C>A (p.His176Gln)
c.113C>A
c.630C>A (p.His210Gln)
c.471C>A (p.His157Gln)
n.114C>A
c.711C>A (p.His237Gln)
c.693C>A (p.His231Gln)
c.591C>A (p.His197Gln)
c.771C>A (p.His257Gln)
c.873C>A (p.His291Gln)
c.813C>A (p.His271Gln)
c.696C>A (p.His232Gln)
c.714C>A (p.His238Gln)
c.504C>A (p.His168Gln)
c.522C>A (p.His174Gln)
 gnomAD v4
2g.127423401C=CA1286882170PROCc.528C= (p.His176=)
c.113C=
c.630C= (p.His210=)
c.471C= (p.His157=)
n.114C=
c.711C= (p.His237=)
c.693C= (p.His231=)
c.591C= (p.His197=)
c.771C= (p.His257=)
c.873C= (p.His291=)
c.813C= (p.His271=)
c.696C= (p.His232=)
c.714C= (p.His238=)
c.504C= (p.His168=)
c.522C= (p.His174=)
2g.127423401C>GCA348400298PROCc.528C>G (p.His176Gln)
c.113C>G
c.630C>G (p.His210Gln)
c.471C>G (p.His157Gln)
n.114C>G
c.711C>G (p.His237Gln)
c.693C>G (p.His231Gln)
c.591C>G (p.His197Gln)
c.771C>G (p.His257Gln)
c.873C>G (p.His291Gln)
c.813C>G (p.His271Gln)
c.696C>G (p.His232Gln)
c.714C>G (p.His238Gln)
c.504C>G (p.His168Gln)
c.522C>G (p.His174Gln)
 dbSNP
2g.127423401C>TCA428617652PROCc.528C>T (p.His176=)
c.113C>T
c.630C>T (p.His210=)
c.471C>T (p.His157=)
n.114C>T
c.711C>T (p.His237=)
c.693C>T (p.His231=)
c.591C>T (p.His197=)
c.771C>T (p.His257=)
c.873C>T (p.His291=)
c.813C>T (p.His271=)
c.696C>T (p.His232=)
c.714C>T (p.His238=)
c.504C>T (p.His168=)
c.522C>T (p.His174=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423404delCA2660996468PROCc.531del (p.Ala178GlnfsTer2)
c.116del
c.633del (p.Ala212GlnfsTer2)
c.474del (p.Ala159GlnfsTer2)
n.117del
c.714del (p.Ala239GlnfsTer2)
c.696del (p.Ala233GlnfsTer2)
c.594del (p.Ala199GlnfsTer2)
c.774del (p.Ala259GlnfsTer2)
c.876del (p.Ala293GlnfsTer2)
c.816del (p.Ala273GlnfsTer2)
c.699del (p.Ala234GlnfsTer2)
c.717del (p.Ala240GlnfsTer2)
c.507del (p.Ala170GlnfsTer2)
c.525del (p.Ala176GlnfsTer2)
 gnomAD v4
2g.127423402_127423406delCA535639369PROCc.529_533del (p.Pro177SerfsTer?)
c.114_118del
c.631_635del (p.Pro211SerfsTer?)
c.472_476del (p.Pro158SerfsTer?)
n.115_119del
c.712_716del (p.Pro238SerfsTer?)
c.694_698del (p.Pro232SerfsTer?)
c.592_596del (p.Pro198SerfsTer?)
c.772_776del (p.Pro258SerfsTer?)
c.874_878del (p.Pro292SerfsTer?)
c.814_818del (p.Pro272SerfsTer?)
c.697_701del (p.Pro233SerfsTer?)
c.715_719del (p.Pro239SerfsTer?)
c.505_509del (p.Pro169SerfsTer?)
c.523_527del (p.Pro175SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.127423402C>ACA348400301PROCc.529C>A (p.Pro177Thr)
c.114C>A
c.631C>A (p.Pro211Thr)
c.472C>A (p.Pro158Thr)
n.115C>A
c.712C>A (p.Pro238Thr)
c.694C>A (p.Pro232Thr)
c.592C>A (p.Pro198Thr)
c.772C>A (p.Pro258Thr)
c.874C>A (p.Pro292Thr)
c.814C>A (p.Pro272Thr)
c.697C>A (p.Pro233Thr)
c.715C>A (p.Pro239Thr)
c.505C>A (p.Pro169Thr)
c.523C>A (p.Pro175Thr)
 gnomAD v4
2g.127423402C>GCA348400300PROCc.529C>G (p.Pro177Ala)
c.114C>G
c.631C>G (p.Pro211Ala)
c.472C>G (p.Pro158Ala)
n.115C>G
c.712C>G (p.Pro238Ala)
c.694C>G (p.Pro232Ala)
c.592C>G (p.Pro198Ala)
c.772C>G (p.Pro258Ala)
c.874C>G (p.Pro292Ala)
c.814C>G (p.Pro272Ala)
c.697C>G (p.Pro233Ala)
c.715C>G (p.Pro239Ala)
c.505C>G (p.Pro169Ala)
c.523C>G (p.Pro175Ala)
2g.127423402C>TCA348400299PROCc.529C>T (p.Pro177Ser)
c.114C>T
c.631C>T (p.Pro211Ser)
c.472C>T (p.Pro158Ser)
n.115C>T
c.712C>T (p.Pro238Ser)
c.694C>T (p.Pro232Ser)
c.592C>T (p.Pro198Ser)
c.772C>T (p.Pro258Ser)
c.874C>T (p.Pro292Ser)
c.814C>T (p.Pro272Ser)
c.697C>T (p.Pro233Ser)
c.715C>T (p.Pro239Ser)
c.505C>T (p.Pro169Ser)
c.523C>T (p.Pro175Ser)
 gnomAD v4
2g.127423403C>ACA348400302PROCc.530C>A (p.Pro177His)
c.115C>A
c.632C>A (p.Pro211His)
c.473C>A (p.Pro158His)
n.116C>A
c.713C>A (p.Pro238His)
c.695C>A (p.Pro232His)
c.593C>A (p.Pro198His)
c.773C>A (p.Pro258His)
c.875C>A (p.Pro292His)
c.815C>A (p.Pro272His)
c.698C>A (p.Pro233His)
c.716C>A (p.Pro239His)
c.506C>A (p.Pro169His)
c.524C>A (p.Pro175His)
 gnomAD v4
2g.127423403C>GCA348400304PROCc.530C>G (p.Pro177Arg)
c.115C>G
c.632C>G (p.Pro211Arg)
c.473C>G (p.Pro158Arg)
n.116C>G
c.713C>G (p.Pro238Arg)
c.695C>G (p.Pro232Arg)
c.593C>G (p.Pro198Arg)
c.773C>G (p.Pro258Arg)
c.875C>G (p.Pro292Arg)
c.815C>G (p.Pro272Arg)
c.698C>G (p.Pro233Arg)
c.716C>G (p.Pro239Arg)
c.506C>G (p.Pro169Arg)
c.524C>G (p.Pro175Arg)
2g.127423403C>TCA348400303PROCc.530C>T (p.Pro177Leu)
c.115C>T
c.632C>T (p.Pro211Leu)
c.473C>T (p.Pro158Leu)
n.116C>T
c.713C>T (p.Pro238Leu)
c.695C>T (p.Pro232Leu)
c.593C>T (p.Pro198Leu)
c.773C>T (p.Pro258Leu)
c.875C>T (p.Pro292Leu)
c.815C>T (p.Pro272Leu)
c.698C>T (p.Pro233Leu)
c.716C>T (p.Pro239Leu)
c.506C>T (p.Pro169Leu)
c.524C>T (p.Pro175Leu)
 gnomAD v4
2g.127423404C>ACA428617656PROCc.531C>A (p.Pro177=)
c.116C>A
c.633C>A (p.Pro211=)
c.474C>A (p.Pro158=)
n.117C>A
c.714C>A (p.Pro238=)
c.696C>A (p.Pro232=)
c.594C>A (p.Pro198=)
c.774C>A (p.Pro258=)
c.876C>A (p.Pro292=)
c.816C>A (p.Pro272=)
c.699C>A (p.Pro233=)
c.717C>A (p.Pro239=)
c.507C>A (p.Pro169=)
c.525C>A (p.Pro175=)
 gnomAD v4
2g.127423404C=CA1286882171PROCc.531C= (p.Pro177=)
c.116C=
c.633C= (p.Pro211=)
c.474C= (p.Pro158=)
n.117C=
c.714C= (p.Pro238=)
c.696C= (p.Pro232=)
c.594C= (p.Pro198=)
c.774C= (p.Pro258=)
c.876C= (p.Pro292=)
c.816C= (p.Pro272=)
c.699C= (p.Pro233=)
c.717C= (p.Pro239=)
c.507C= (p.Pro169=)
c.525C= (p.Pro175=)
2g.127423404C>GCA428617657PROCc.531C>G (p.Pro177=)
c.116C>G
c.633C>G (p.Pro211=)
c.474C>G (p.Pro158=)
n.117C>G
c.714C>G (p.Pro238=)
c.696C>G (p.Pro232=)
c.594C>G (p.Pro198=)
c.774C>G (p.Pro258=)
c.876C>G (p.Pro292=)
c.816C>G (p.Pro272=)
c.699C>G (p.Pro233=)
c.717C>G (p.Pro239=)
c.507C>G (p.Pro169=)
c.525C>G (p.Pro175=)
2g.127423404C>TCA1859359PROCc.531C>T (p.Pro177=)
c.116C>T
c.633C>T (p.Pro211=)
c.474C>T (p.Pro158=)
n.117C>T
c.714C>T (p.Pro238=)
c.696C>T (p.Pro232=)
c.594C>T (p.Pro198=)
c.774C>T (p.Pro258=)
c.876C>T (p.Pro292=)
c.816C>T (p.Pro272=)
c.699C>T (p.Pro233=)
c.717C>T (p.Pro239=)
c.507C>T (p.Pro169=)
c.525C>T (p.Pro175=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127423405G>ACA348400307PROCc.532G>A (p.Ala178Thr)
c.117G>A
c.634G>A (p.Ala212Thr)
c.475G>A (p.Ala159Thr)
n.118G>A
c.715G>A (p.Ala239Thr)
c.697G>A (p.Ala233Thr)
c.595G>A (p.Ala199Thr)
c.775G>A (p.Ala259Thr)
c.877G>A (p.Ala293Thr)
c.817G>A (p.Ala273Thr)
c.700G>A (p.Ala234Thr)
c.718G>A (p.Ala240Thr)
c.508G>A (p.Ala170Thr)
c.526G>A (p.Ala176Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.127423405G>CCA348400305PROCc.532G>C (p.Ala178Pro)
c.117G>C
c.634G>C (p.Ala212Pro)
c.475G>C (p.Ala159Pro)
n.118G>C
c.715G>C (p.Ala239Pro)
c.697G>C (p.Ala233Pro)
c.595G>C (p.Ala199Pro)
c.775G>C (p.Ala259Pro)
c.877G>C (p.Ala293Pro)
c.817G>C (p.Ala273Pro)
c.700G>C (p.Ala234Pro)
c.718G>C (p.Ala240Pro)
c.508G>C (p.Ala170Pro)
c.526G>C (p.Ala176Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127423405G=CA1286882172PROCc.532G= (p.Ala178=)
c.117G=
c.634G= (p.Ala212=)
c.475G= (p.Ala159=)
n.118G=
c.715G= (p.Ala239=)
c.697G= (p.Ala233=)
c.595G= (p.Ala199=)
c.775G= (p.Ala259=)
c.877G= (p.Ala293=)
c.817G= (p.Ala273=)
c.700G= (p.Ala234=)
c.718G= (p.Ala240=)
c.508G= (p.Ala170=)
c.526G= (p.Ala176=)
2g.127423405G>TCA348400306PROCc.532G>T (p.Ala178Ser)
c.117G>T
c.634G>T (p.Ala212Ser)
c.475G>T (p.Ala159Ser)
n.118G>T
c.715G>T (p.Ala239Ser)
c.697G>T (p.Ala233Ser)
c.595G>T (p.Ala199Ser)
c.775G>T (p.Ala259Ser)
c.877G>T (p.Ala293Ser)
c.817G>T (p.Ala273Ser)
c.700G>T (p.Ala234Ser)
c.718G>T (p.Ala240Ser)
c.508G>T (p.Ala170Ser)
c.526G>T (p.Ala176Ser)
 gnomAD v4
2g.127423406C>ACA348400308PROCc.533C>A (p.Ala178Glu)
c.118C>A
c.635C>A (p.Ala212Glu)
c.476C>A (p.Ala159Glu)
n.119C>A
c.716C>A (p.Ala239Glu)
c.698C>A (p.Ala233Glu)
c.596C>A (p.Ala199Glu)
c.776C>A (p.Ala259Glu)
c.878C>A (p.Ala293Glu)
c.818C>A (p.Ala273Glu)
c.701C>A (p.Ala234Glu)
c.719C>A (p.Ala240Glu)
c.509C>A (p.Ala170Glu)
c.527C>A (p.Ala176Glu)
2g.127423406C>GCA348400309PROCc.533C>G (p.Ala178Gly)
c.118C>G
c.635C>G (p.Ala212Gly)
c.476C>G (p.Ala159Gly)
n.119C>G
c.716C>G (p.Ala239Gly)
c.698C>G (p.Ala233Gly)
c.596C>G (p.Ala199Gly)
c.776C>G (p.Ala259Gly)
c.878C>G (p.Ala293Gly)
c.818C>G (p.Ala273Gly)
c.701C>G (p.Ala234Gly)
c.719C>G (p.Ala240Gly)
c.509C>G (p.Ala170Gly)
c.527C>G (p.Ala176Gly)
 gnomAD v4
2g.127423406C>TCA348400310PROCc.533C>T (p.Ala178Val)
c.118C>T
c.635C>T (p.Ala212Val)
c.476C>T (p.Ala159Val)
n.119C>T
c.716C>T (p.Ala239Val)
c.698C>T (p.Ala233Val)
c.596C>T (p.Ala199Val)
c.776C>T (p.Ala259Val)
c.878C>T (p.Ala293Val)
c.818C>T (p.Ala273Val)
c.701C>T (p.Ala234Val)
c.719C>T (p.Ala240Val)
c.509C>T (p.Ala170Val)
c.527C>T (p.Ala176Val)
 gnomAD v4
2g.127423407A=CA1286882173PROCc.534A= (p.Ala178=)
c.119A=
c.636A= (p.Ala212=)
c.477A= (p.Ala159=)
n.120A=
c.717A= (p.Ala239=)
c.699A= (p.Ala233=)
c.597A= (p.Ala199=)
c.777A= (p.Ala259=)
c.879A= (p.Ala293=)
c.819A= (p.Ala273=)
c.702A= (p.Ala234=)
c.720A= (p.Ala240=)
c.510A= (p.Ala170=)
c.528A= (p.Ala176=)
2g.127423407A>CCA428617659PROCc.534A>C (p.Ala178=)
c.119A>C
c.636A>C (p.Ala212=)
c.477A>C (p.Ala159=)
n.120A>C
c.717A>C (p.Ala239=)
c.699A>C (p.Ala233=)
c.597A>C (p.Ala199=)
c.777A>C (p.Ala259=)
c.879A>C (p.Ala293=)
c.819A>C (p.Ala273=)
c.702A>C (p.Ala234=)
c.720A>C (p.Ala240=)
c.510A>C (p.Ala170=)
c.528A>C (p.Ala176=)
 gnomAD v4
2g.127423407A>GCA55345575PROCc.534A>G (p.Ala178=)
c.119A>G
c.636A>G (p.Ala212=)
c.477A>G (p.Ala159=)
n.120A>G
c.717A>G (p.Ala239=)
c.699A>G (p.Ala233=)
c.597A>G (p.Ala199=)
c.777A>G (p.Ala259=)
c.879A>G (p.Ala293=)
c.819A>G (p.Ala273=)
c.702A>G (p.Ala234=)
c.720A>G (p.Ala240=)
c.510A>G (p.Ala170=)
c.528A>G (p.Ala176=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127423407A>TCA428617660PROCc.534A>T (p.Ala178=)
c.119A>T
c.636A>T (p.Ala212=)
c.477A>T (p.Ala159=)
n.120A>T
c.717A>T (p.Ala239=)
c.699A>T (p.Ala233=)
c.597A>T (p.Ala199=)
c.777A>T (p.Ala259=)
c.879A>T (p.Ala293=)
c.819A>T (p.Ala273=)
c.702A>T (p.Ala234=)
c.720A>T (p.Ala240=)
c.510A>T (p.Ala170=)
c.528A>T (p.Ala176=)
 gnomAD v4
2g.127423408G>ACA348400311PROCc.535G>A (p.Val179Met)
c.120G>A
c.637G>A (p.Val213Met)
c.478G>A (p.Val160Met)
n.121G>A
c.718G>A (p.Val240Met)
c.700G>A (p.Val234Met)
c.598G>A (p.Val200Met)
c.778G>A (p.Val260Met)
c.880G>A (p.Val294Met)
c.820G>A (p.Val274Met)
c.703G>A (p.Val235Met)
c.721G>A (p.Val241Met)
c.511G>A (p.Val171Met)
c.529G>A (p.Val177Met)
 dbSNP gnomAD v2 gnomAD v4
2g.127423408G>CCA348400312PROCc.535G>C (p.Val179Leu)
c.120G>C
c.637G>C (p.Val213Leu)
c.478G>C (p.Val160Leu)
n.121G>C
c.718G>C (p.Val240Leu)
c.700G>C (p.Val234Leu)
c.598G>C (p.Val200Leu)
c.778G>C (p.Val260Leu)
c.880G>C (p.Val294Leu)
c.820G>C (p.Val274Leu)
c.703G>C (p.Val235Leu)
c.721G>C (p.Val241Leu)
c.511G>C (p.Val171Leu)
c.529G>C (p.Val177Leu)
2g.127423408G=CA1286882174PROCc.535G= (p.Val179=)
c.120G=
c.637G= (p.Val213=)
c.478G= (p.Val160=)
n.121G=
c.718G= (p.Val240=)
c.700G= (p.Val234=)
c.598G= (p.Val200=)
c.778G= (p.Val260=)
c.880G= (p.Val294=)
c.820G= (p.Val274=)
c.703G= (p.Val235=)
c.721G= (p.Val241=)
c.511G= (p.Val171=)
c.529G= (p.Val177=)
2g.127423408G>TCA348400313PROCc.535G>T (p.Val179Leu)
c.120G>T
c.637G>T (p.Val213Leu)
c.478G>T (p.Val160Leu)
n.121G>T
c.718G>T (p.Val240Leu)
c.700G>T (p.Val234Leu)
c.598G>T (p.Val200Leu)
c.778G>T (p.Val260Leu)
c.880G>T (p.Val294Leu)
c.820G>T (p.Val274Leu)
c.703G>T (p.Val235Leu)
c.721G>T (p.Val241Leu)
c.511G>T (p.Val171Leu)
c.529G>T (p.Val177Leu)
 gnomAD v4
2g.127423409G>ACA348400314PROCc.535+1G>A (n.535+1G>A)
c.120+1G>A
c.637+1G>A (n.637+1G>A)
c.478+1G>A (n.478+1G>A)
n.121+1G>A
c.718+1G>A (n.718+1G>A)
c.700+1G>A (n.700+1G>A)
c.598+1G>A (n.598+1G>A)
c.778+1G>A (n.778+1G>A)
c.880+1G>A (n.880+1G>A)
c.820+1G>A (n.820+1G>A)
c.703+1G>A (n.703+1G>A)
c.721+1G>A (n.721+1G>A)
c.511+1G>A (n.511+1G>A)
c.529+1G>A (n.529+1G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.127423409G>CCA348400315PROCc.535+1G>C (n.535+1G>C)
c.120+1G>C
c.637+1G>C (n.637+1G>C)
c.478+1G>C (n.478+1G>C)
n.121+1G>C
c.718+1G>C (n.718+1G>C)
c.700+1G>C (n.700+1G>C)
c.598+1G>C (n.598+1G>C)
c.778+1G>C (n.778+1G>C)
c.880+1G>C (n.880+1G>C)
c.820+1G>C (n.820+1G>C)
c.703+1G>C (n.703+1G>C)
c.721+1G>C (n.721+1G>C)
c.511+1G>C (n.511+1G>C)
c.529+1G>C (n.529+1G>C)
 gnomAD v4
2g.127423409G=CA1286882175PROCc.535+1G= (n.535+1G=)
c.120+1G=
c.637+1G= (n.637+1G=)
c.478+1G= (n.478+1G=)
n.121+1G=
c.718+1G= (n.718+1G=)
c.700+1G= (n.700+1G=)
c.598+1G= (n.598+1G=)
c.778+1G= (n.778+1G=)
c.880+1G= (n.880+1G=)
c.820+1G= (n.820+1G=)
c.703+1G= (n.703+1G=)
c.721+1G= (n.721+1G=)
c.511+1G= (n.511+1G=)
c.529+1G= (n.529+1G=)
2g.127423409G>TCA348400316PROCc.535+1G>T (n.535+1G>T)
c.120+1G>T
c.637+1G>T (n.637+1G>T)
c.478+1G>T (n.478+1G>T)
n.121+1G>T
c.718+1G>T (n.718+1G>T)
c.700+1G>T (n.700+1G>T)
c.598+1G>T (n.598+1G>T)
c.778+1G>T (n.778+1G>T)
c.880+1G>T (n.880+1G>T)
c.820+1G>T (n.820+1G>T)
c.703+1G>T (n.703+1G>T)
c.721+1G>T (n.721+1G>T)
c.511+1G>T (n.511+1G>T)
c.529+1G>T (n.529+1G>T)
 gnomAD v4
2g.127423410T>ACA348400319PROCc.535+2T>A (n.535+2T>A)
c.120+2T>A
c.637+2T>A (n.637+2T>A)
c.478+2T>A (n.478+2T>A)
n.121+2T>A
c.718+2T>A (n.718+2T>A)
c.700+2T>A (n.700+2T>A)
c.598+2T>A (n.598+2T>A)
c.778+2T>A (n.778+2T>A)
c.880+2T>A (n.880+2T>A)
c.820+2T>A (n.820+2T>A)
c.703+2T>A (n.703+2T>A)
c.721+2T>A (n.721+2T>A)
c.511+2T>A (n.511+2T>A)
c.529+2T>A (n.529+2T>A)
2g.127423410T>CCA348400317PROCc.535+2T>C (n.535+2T>C)
c.120+2T>C
c.637+2T>C (n.637+2T>C)
c.478+2T>C (n.478+2T>C)
n.121+2T>C
c.718+2T>C (n.718+2T>C)
c.700+2T>C (n.700+2T>C)
c.598+2T>C (n.598+2T>C)
c.778+2T>C (n.778+2T>C)
c.880+2T>C (n.880+2T>C)
c.820+2T>C (n.820+2T>C)
c.703+2T>C (n.703+2T>C)
c.721+2T>C (n.721+2T>C)
c.511+2T>C (n.511+2T>C)
c.529+2T>C (n.529+2T>C)
 dbSNP
2g.127423410T>GCA348400318PROCc.535+2T>G (n.535+2T>G)
c.120+2T>G
c.637+2T>G (n.637+2T>G)
c.478+2T>G (n.478+2T>G)
n.121+2T>G
c.718+2T>G (n.718+2T>G)
c.700+2T>G (n.700+2T>G)
c.598+2T>G (n.598+2T>G)
c.778+2T>G (n.778+2T>G)
c.880+2T>G (n.880+2T>G)
c.820+2T>G (n.820+2T>G)
c.703+2T>G (n.703+2T>G)
c.721+2T>G (n.721+2T>G)
c.511+2T>G (n.511+2T>G)
c.529+2T>G (n.529+2T>G)
2g.127423410T=CA1286882176PROCc.535+2T= (n.535+2T=)
c.120+2T=
c.637+2T= (n.637+2T=)
c.478+2T= (n.478+2T=)
n.121+2T=
c.718+2T= (n.718+2T=)
c.700+2T= (n.700+2T=)
c.598+2T= (n.598+2T=)
c.778+2T= (n.778+2T=)
c.880+2T= (n.880+2T=)
c.820+2T= (n.820+2T=)
c.703+2T= (n.703+2T=)
c.721+2T= (n.721+2T=)
c.511+2T= (n.511+2T=)
c.529+2T= (n.529+2T=)
2g.127423410_127423414delCA2586969862PROCc.535+2_535+6del (n.535+2_535+6del)
c.120+2_120+6del
c.637+2_637+6del (n.637+2_637+6del)
c.478+2_478+6del (n.478+2_478+6del)
n.121+2_121+6del
c.718+2_718+6del (n.718+2_718+6del)
c.700+2_700+6del (n.700+2_700+6del)
c.598+2_598+6del (n.598+2_598+6del)
c.778+2_778+6del (n.778+2_778+6del)
c.880+2_880+6del (n.880+2_880+6del)
c.820+2_820+6del (n.820+2_820+6del)
c.703+2_703+6del (n.703+2_703+6del)
c.721+2_721+6del (n.721+2_721+6del)
c.511+2_511+6del (n.511+2_511+6del)
c.529+2_529+6del (n.529+2_529+6del)
2g.127423411G>ACA535639370PROCc.535+3G>A (n.535+3G>A)
c.120+3G>A
c.637+3G>A (n.637+3G>A)
c.478+3G>A (n.478+3G>A)
n.121+3G>A
c.718+3G>A (n.718+3G>A)
c.700+3G>A (n.700+3G>A)
c.598+3G>A (n.598+3G>A)
c.778+3G>A (n.778+3G>A)
c.880+3G>A (n.880+3G>A)
c.820+3G>A (n.820+3G>A)
c.703+3G>A (n.703+3G>A)
c.721+3G>A (n.721+3G>A)
c.511+3G>A (n.511+3G>A)
c.529+3G>A (n.529+3G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.127423411G=CA1286882177PROCc.535+3G= (n.535+3G=)
c.120+3G=
c.637+3G= (n.637+3G=)
c.478+3G= (n.478+3G=)
n.121+3G=
c.718+3G= (n.718+3G=)
c.700+3G= (n.700+3G=)
c.598+3G= (n.598+3G=)
c.778+3G= (n.778+3G=)
c.880+3G= (n.880+3G=)
c.820+3G= (n.820+3G=)
c.703+3G= (n.703+3G=)
c.721+3G= (n.721+3G=)
c.511+3G= (n.511+3G=)
c.529+3G= (n.529+3G=)
2g.127423411G>TCA1036158708PROCc.535+3G>T (n.535+3G>T)
c.120+3G>T
c.637+3G>T (n.637+3G>T)
c.478+3G>T (n.478+3G>T)
n.121+3G>T
c.718+3G>T (n.718+3G>T)
c.700+3G>T (n.700+3G>T)
c.598+3G>T (n.598+3G>T)
c.778+3G>T (n.778+3G>T)
c.880+3G>T (n.880+3G>T)
c.820+3G>T (n.820+3G>T)
c.703+3G>T (n.703+3G>T)
c.721+3G>T (n.721+3G>T)
c.511+3G>T (n.511+3G>T)
c.529+3G>T (n.529+3G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.127423412A>GCA2660996469PROCc.535+4A>G (n.535+4A>G)
c.120+4A>G
c.637+4A>G (n.637+4A>G)
c.478+4A>G (n.478+4A>G)
n.121+4A>G
c.718+4A>G (n.718+4A>G)
c.700+4A>G (n.700+4A>G)
c.598+4A>G (n.598+4A>G)
c.778+4A>G (n.778+4A>G)
c.880+4A>G (n.880+4A>G)
c.820+4A>G (n.820+4A>G)
c.703+4A>G (n.703+4A>G)
c.721+4A>G (n.721+4A>G)
c.511+4A>G (n.511+4A>G)
c.529+4A>G (n.529+4A>G)
 gnomAD v4
2g.127423413G>ACA2660996470PROCc.535+5G>A (n.535+5G>A)
c.120+5G>A
c.637+5G>A (n.637+5G>A)
c.478+5G>A (n.478+5G>A)
n.121+5G>A
c.718+5G>A (n.718+5G>A)
c.700+5G>A (n.700+5G>A)
c.598+5G>A (n.598+5G>A)
c.778+5G>A (n.778+5G>A)
c.880+5G>A (n.880+5G>A)
c.820+5G>A (n.820+5G>A)
c.703+5G>A (n.703+5G>A)
c.721+5G>A (n.721+5G>A)
c.511+5G>A (n.511+5G>A)
c.529+5G>A (n.529+5G>A)
 gnomAD v4
2g.127423413G>TCA2660996471PROCc.535+5G>T (n.535+5G>T)
c.120+5G>T
c.637+5G>T (n.637+5G>T)
c.478+5G>T (n.478+5G>T)
n.121+5G>T
c.718+5G>T (n.718+5G>T)
c.700+5G>T (n.700+5G>T)
c.598+5G>T (n.598+5G>T)
c.778+5G>T (n.778+5G>T)
c.880+5G>T (n.880+5G>T)
c.820+5G>T (n.820+5G>T)
c.703+5G>T (n.703+5G>T)
c.721+5G>T (n.721+5G>T)
c.511+5G>T (n.511+5G>T)
c.529+5G>T (n.529+5G>T)
 gnomAD v4
2g.127423415A>GCA2660996472PROCc.535+7A>G (n.535+7A>G)
c.120+7A>G
c.637+7A>G (n.637+7A>G)
c.478+7A>G (n.478+7A>G)
n.121+7A>G
c.718+7A>G (n.718+7A>G)
c.700+7A>G (n.700+7A>G)
c.598+7A>G (n.598+7A>G)
c.778+7A>G (n.778+7A>G)
c.880+7A>G (n.880+7A>G)
c.820+7A>G (n.820+7A>G)
c.703+7A>G (n.703+7A>G)
c.721+7A>G (n.721+7A>G)
c.511+7A>G (n.511+7A>G)
c.529+7A>G (n.529+7A>G)
 gnomAD v4
2g.127423415A>TCA2660996473PROCc.535+7A>T (n.535+7A>T)
c.120+7A>T
c.637+7A>T (n.637+7A>T)
c.478+7A>T (n.478+7A>T)
n.121+7A>T
c.718+7A>T (n.718+7A>T)
c.700+7A>T (n.700+7A>T)
c.598+7A>T (n.598+7A>T)
c.778+7A>T (n.778+7A>T)
c.880+7A>T (n.880+7A>T)
c.820+7A>T (n.820+7A>T)
c.703+7A>T (n.703+7A>T)
c.721+7A>T (n.721+7A>T)
c.511+7A>T (n.511+7A>T)
c.529+7A>T (n.529+7A>T)
 gnomAD v4
2g.127423416G>ACA535639371PROCc.535+8G>A (n.535+8G>A)
c.120+8G>A
c.637+8G>A (n.637+8G>A)
c.478+8G>A (n.478+8G>A)
n.121+8G>A
c.718+8G>A (n.718+8G>A)
c.700+8G>A (n.700+8G>A)
c.598+8G>A (n.598+8G>A)
c.778+8G>A (n.778+8G>A)
c.880+8G>A (n.880+8G>A)
c.820+8G>A (n.820+8G>A)
c.703+8G>A (n.703+8G>A)
c.721+8G>A (n.721+8G>A)
c.511+8G>A (n.511+8G>A)
c.529+8G>A (n.529+8G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.127423416G=CA1286882178PROCc.535+8G= (n.535+8G=)
c.120+8G=
c.637+8G= (n.637+8G=)
c.478+8G= (n.478+8G=)
n.121+8G=
c.718+8G= (n.718+8G=)
c.700+8G= (n.700+8G=)
c.598+8G= (n.598+8G=)
c.778+8G= (n.778+8G=)
c.880+8G= (n.880+8G=)
c.820+8G= (n.820+8G=)
c.703+8G= (n.703+8G=)
c.721+8G= (n.721+8G=)
c.511+8G= (n.511+8G=)
c.529+8G= (n.529+8G=)
2g.127423416G>TCA1036158723PROCc.535+8G>T (n.535+8G>T)
c.120+8G>T
c.637+8G>T (n.637+8G>T)
c.478+8G>T (n.478+8G>T)
n.121+8G>T
c.718+8G>T (n.718+8G>T)
c.700+8G>T (n.700+8G>T)
c.598+8G>T (n.598+8G>T)
c.778+8G>T (n.778+8G>T)
c.880+8G>T (n.880+8G>T)
c.820+8G>T (n.820+8G>T)
c.703+8G>T (n.703+8G>T)
c.721+8G>T (n.721+8G>T)
c.511+8G>T (n.511+8G>T)
c.529+8G>T (n.529+8G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.127423417C>ACA2660996474PROCc.535+9C>A (n.535+9C>A)
c.120+9C>A
c.637+9C>A (n.637+9C>A)
c.478+9C>A (n.478+9C>A)
n.121+9C>A
c.718+9C>A (n.718+9C>A)
c.700+9C>A (n.700+9C>A)
c.598+9C>A (n.598+9C>A)
c.778+9C>A (n.778+9C>A)
c.880+9C>A (n.880+9C>A)
c.820+9C>A (n.820+9C>A)
c.703+9C>A (n.703+9C>A)
c.721+9C>A (n.721+9C>A)
c.511+9C>A (n.511+9C>A)
c.529+9C>A (n.529+9C>A)
 gnomAD v4
2g.127423417C=CA1286882179PROCc.535+9C= (n.535+9C=)
c.120+9C=
c.637+9C= (n.637+9C=)
c.478+9C= (n.478+9C=)
n.121+9C=
c.718+9C= (n.718+9C=)
c.700+9C= (n.700+9C=)
c.598+9C= (n.598+9C=)
c.778+9C= (n.778+9C=)
c.880+9C= (n.880+9C=)
c.820+9C= (n.820+9C=)
c.703+9C= (n.703+9C=)
c.721+9C= (n.721+9C=)
c.511+9C= (n.511+9C=)
c.529+9C= (n.529+9C=)
2g.127423417C>TCA535639372PROCc.535+9C>T (n.535+9C>T)
c.120+9C>T
c.637+9C>T (n.637+9C>T)
c.478+9C>T (n.478+9C>T)
n.121+9C>T
c.718+9C>T (n.718+9C>T)
c.700+9C>T (n.700+9C>T)
c.598+9C>T (n.598+9C>T)
c.778+9C>T (n.778+9C>T)
c.880+9C>T (n.880+9C>T)
c.820+9C>T (n.820+9C>T)
c.703+9C>T (n.703+9C>T)
c.721+9C>T (n.721+9C>T)
c.511+9C>T (n.511+9C>T)
c.529+9C>T (n.529+9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127423421dupCA1286882180PROCc.535+13dup (n.535+13dup)
c.120+13dup
c.637+13dup (n.637+13dup)
c.478+13dup (n.478+13dup)
n.121+13dup
c.718+13dup (n.718+13dup)
c.700+13dup (n.700+13dup)
c.598+13dup (n.598+13dup)
c.778+13dup (n.778+13dup)
c.880+13dup (n.880+13dup)
c.820+13dup (n.820+13dup)
c.703+13dup (n.703+13dup)
c.721+13dup (n.721+13dup)
c.511+13dup (n.511+13dup)
c.529+13dup (n.529+13dup)
 ClinVar dbSNP gnomAD v4
2g.127423419_127423421dupCA2660996475PROCc.535+11_535+13dup (n.535+11_535+13dup)
c.120+11_120+13dup
c.637+11_637+13dup (n.637+11_637+13dup)
c.478+11_478+13dup (n.478+11_478+13dup)
n.121+11_121+13dup
c.718+11_718+13dup (n.718+11_718+13dup)
c.700+11_700+13dup (n.700+11_700+13dup)
c.598+11_598+13dup (n.598+11_598+13dup)
c.778+11_778+13dup (n.778+11_778+13dup)
c.880+11_880+13dup (n.880+11_880+13dup)
c.820+11_820+13dup (n.820+11_820+13dup)
c.703+11_703+13dup (n.703+11_703+13dup)
c.721+11_721+13dup (n.721+11_721+13dup)
c.511+11_511+13dup (n.511+11_511+13dup)
c.529+11_529+13dup (n.529+11_529+13dup)
 gnomAD v4
2g.127423421delCA2577090333PROCc.535+13del (n.535+13del)
c.120+13del
c.637+13del (n.637+13del)
c.478+13del (n.478+13del)
n.121+13del
c.718+13del (n.718+13del)
c.700+13del (n.700+13del)
c.598+13del (n.598+13del)
c.778+13del (n.778+13del)
c.880+13del (n.880+13del)
c.820+13del (n.820+13del)
c.703+13del (n.703+13del)
c.721+13del (n.721+13del)
c.511+13del (n.511+13del)
c.529+13del (n.529+13del)
 gnomAD v4
2g.127423418C>ACA1859360PROCc.535+10C>A (n.535+10C>A)
c.120+10C>A
c.637+10C>A (n.637+10C>A)
c.478+10C>A (n.478+10C>A)
n.121+10C>A
c.718+10C>A (n.718+10C>A)
c.700+10C>A (n.700+10C>A)
c.598+10C>A (n.598+10C>A)
c.778+10C>A (n.778+10C>A)
c.880+10C>A (n.880+10C>A)
c.820+10C>A (n.820+10C>A)
c.703+10C>A (n.703+10C>A)
c.721+10C>A (n.721+10C>A)
c.511+10C>A (n.511+10C>A)
c.529+10C>A (n.529+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127423418C=CA1286882181PROCc.535+10C= (n.535+10C=)
c.120+10C=
c.637+10C= (n.637+10C=)
c.478+10C= (n.478+10C=)
n.121+10C=
c.718+10C= (n.718+10C=)
c.700+10C= (n.700+10C=)
c.598+10C= (n.598+10C=)
c.778+10C= (n.778+10C=)
c.880+10C= (n.880+10C=)
c.820+10C= (n.820+10C=)
c.703+10C= (n.703+10C=)
c.721+10C= (n.721+10C=)
c.511+10C= (n.511+10C=)
c.529+10C= (n.529+10C=)
2g.127423418C>GCA2660996476PROCc.535+10C>G (n.535+10C>G)
c.120+10C>G
c.637+10C>G (n.637+10C>G)
c.478+10C>G (n.478+10C>G)
n.121+10C>G
c.718+10C>G (n.718+10C>G)
c.700+10C>G (n.700+10C>G)
c.598+10C>G (n.598+10C>G)
c.778+10C>G (n.778+10C>G)
c.880+10C>G (n.880+10C>G)
c.820+10C>G (n.820+10C>G)
c.703+10C>G (n.703+10C>G)
c.721+10C>G (n.721+10C>G)
c.511+10C>G (n.511+10C>G)
c.529+10C>G (n.529+10C>G)
 gnomAD v4
2g.127423418C>TCA1286882182PROCc.535+10C>T (n.535+10C>T)
c.120+10C>T
c.637+10C>T (n.637+10C>T)
c.478+10C>T (n.478+10C>T)
n.121+10C>T
c.718+10C>T (n.718+10C>T)
c.700+10C>T (n.700+10C>T)
c.598+10C>T (n.598+10C>T)
c.778+10C>T (n.778+10C>T)
c.880+10C>T (n.880+10C>T)
c.820+10C>T (n.820+10C>T)
c.703+10C>T (n.703+10C>T)
c.721+10C>T (n.721+10C>T)
c.511+10C>T (n.511+10C>T)
c.529+10C>T (n.529+10C>T)
 ClinVar dbSNP gnomAD v4
2g.127423419C>ACA2660996477PROCc.535+11C>A (n.535+11C>A)
c.120+11C>A
c.637+11C>A (n.637+11C>A)
c.478+11C>A (n.478+11C>A)
n.121+11C>A
c.718+11C>A (n.718+11C>A)
c.700+11C>A (n.700+11C>A)
c.598+11C>A (n.598+11C>A)
c.778+11C>A (n.778+11C>A)
c.880+11C>A (n.880+11C>A)
c.820+11C>A (n.820+11C>A)
c.703+11C>A (n.703+11C>A)
c.721+11C>A (n.721+11C>A)
c.511+11C>A (n.511+11C>A)
c.529+11C>A (n.529+11C>A)
 gnomAD v4
2g.127423419C>TCA2660996478PROCc.535+11C>T (n.535+11C>T)
c.120+11C>T
c.637+11C>T (n.637+11C>T)
c.478+11C>T (n.478+11C>T)
n.121+11C>T
c.718+11C>T (n.718+11C>T)
c.700+11C>T (n.700+11C>T)
c.598+11C>T (n.598+11C>T)
c.778+11C>T (n.778+11C>T)
c.880+11C>T (n.880+11C>T)
c.820+11C>T (n.820+11C>T)
c.703+11C>T (n.703+11C>T)
c.721+11C>T (n.721+11C>T)
c.511+11C>T (n.511+11C>T)
c.529+11C>T (n.529+11C>T)
 gnomAD v4

Number of alleles fetched