Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.6877756A>GCA2686023133DEFB1c.61+41T>C (n.61+41T>C)
gnomAD v4
8g.6877757G=CA1761188569DEFB1c.61+40C= (n.61+40C=)
8g.6877757G>TCA579664745DEFB1c.61+40C>A (n.61+40C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877758C>GCA2579088543DEFB1c.61+39G>C (n.61+39G>C)
gnomAD v4
8g.6877759C>ACA2686023134DEFB1c.61+38G>T (n.61+38G>T)
gnomAD v4
8g.6877759C=CA1761188570DEFB1c.61+38G= (n.61+38G=)
8g.6877759C>GCA1761188571DEFB1c.61+38G>C (n.61+38G>C)
dbSNP gnomAD v4
8g.6877760C>ACA2686023135DEFB1c.61+37G>T (n.61+37G>T)
gnomAD v4
8g.6877760C=CA1761188572DEFB1c.61+37G= (n.61+37G=)
8g.6877760C>GCA854608977DEFB1c.61+37G>C (n.61+37G>C)
dbSNP gnomAD v3 gnomAD v4
8g.6877760C>TCA2686023136DEFB1c.61+37G>A (n.61+37G>A)
gnomAD v4
8g.6877760_6877763dupCA854608978DEFB1c.61+34_61+37dup (n.61+34_61+37dup)
dbSNP
8g.6877762G>TCA2579088544DEFB1c.61+35C>A (n.61+35C>A)
gnomAD v4
8g.6877765delCA2686023137DEFB1c.61+35del (n.61+35del)
gnomAD v4
8g.6877763G>ACA1761188574DEFB1c.61+34C>T (n.61+34C>T)
dbSNP gnomAD v4
8g.6877763G=CA1761188573DEFB1c.61+34C= (n.61+34C=)
8g.6877763G>TCA4612858DEFB1c.61+34C>A (n.61+34C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877764G>ACA2686023138DEFB1c.61+33C>T (n.61+33C>T)
gnomAD v4
8g.6877764G>CCA579664746DEFB1c.61+33C>G (n.61+33C>G)
dbSNP gnomAD v2 gnomAD v4
8g.6877764G=CA1761188575DEFB1c.61+33C= (n.61+33C=)
8g.6877764G>TCA4612859DEFB1c.61+33C>A (n.61+33C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877765G>ACA171486087DEFB1c.61+32C>T (n.61+32C>T)
dbSNP gnomAD v2 gnomAD v4
8g.6877765G=CA1761188576DEFB1c.61+32C= (n.61+32C=)
8g.6877765G>TCA2686023139DEFB1c.61+32C>A (n.61+32C>A)
gnomAD v4
8g.6877766A=CA1761188577DEFB1c.61+31T= (n.61+31T=)
8g.6877766A>CCA1110233962DEFB1c.61+31T>G (n.61+31T>G)
dbSNP gnomAD v3 gnomAD v4
8g.6877766A>GCA579664750DEFB1c.61+31T>C (n.61+31T>C)
dbSNP gnomAD v2 gnomAD v4
8g.6877766A>TCA2778897135DEFB1c.61+31T>A (n.61+31T>A)
8g.6877767T>CCA4612860DEFB1c.61+30A>G (n.61+30A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877767T>GCA171486094DEFB1c.61+30A>C (n.61+30A>C)
dbSNP gnomAD v3 gnomAD v4
8g.6877767T=CA1761188578DEFB1c.61+30A= (n.61+30A=)
8g.6877768G>ACA2778897136DEFB1c.61+29C>T (n.61+29C>T)
8g.6877768G>TCA2686023140DEFB1c.61+29C>A (n.61+29C>A)
gnomAD v4
8g.6877769G>ACA2686023141DEFB1c.61+28C>T (n.61+28C>T)
gnomAD v4
8g.6877770G>ACA4612861DEFB1c.61+27C>T (n.61+27C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877770G>CCA2686023142DEFB1c.61+27C>G (n.61+27C>G)
gnomAD v4
8g.6877770G=CA1761188579DEFB1c.61+27C= (n.61+27C=)
8g.6877770G>TCA2686023143DEFB1c.61+27C>A (n.61+27C>A)
gnomAD v4
8g.6877771A>TCA2686023144DEFB1c.61+26T>A (n.61+26T>A)
gnomAD v4
8g.6877773A>CCA2686023145DEFB1c.61+24T>G (n.61+24T>G)
gnomAD v4
8g.6877774C>ACA4612862DEFB1c.61+23G>T (n.61+23G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877774C=CA1761188580DEFB1c.61+23G= (n.61+23G=)
8g.6877774C>GCA2579088545DEFB1c.61+23G>C (n.61+23G>C)
gnomAD v4
8g.6877774C>TCA4612863DEFB1c.61+23G>A (n.61+23G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877776_6877777delCA2778897137DEFB1c.61+22_61+23del (n.61+22_61+23del)
8g.6877775T>CCA2686023147DEFB1c.61+22A>G (n.61+22A>G)
gnomAD v4
8g.6877776_6877778delCA2686023146DEFB1c.61+20_61+22del (n.61+20_61+22del)
gnomAD v4
8g.6877776C=CA1761188581DEFB1c.61+21G= (n.61+21G=)
8g.6877776C>GCA4612864DEFB1c.61+21G>C (n.61+21G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877776C>TCA2686023148DEFB1c.61+21G>A (n.61+21G>A)
gnomAD v4
8g.6877778T>ACA4612865DEFB1c.61+19A>T (n.61+19A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877778T>CCA1761188583DEFB1c.61+19A>G (n.61+19A>G)
dbSNP
8g.6877778T>GCA1761188582DEFB1c.61+19A>C (n.61+19A>C)
dbSNP gnomAD v4
8g.6877778T=CA1761188584DEFB1c.61+19A= (n.61+19A=)
8g.6877778_6877779insACA652031397DEFB1c.61+18_61+19insT (n.61+18_61+19insT)
8g.6877779G>TCA2686023150DEFB1c.61+18C>A (n.61+18C>A)
gnomAD v4
8g.6877779_6877780delCA2686023149DEFB1c.61+17_61+18del (n.61+17_61+18del)
gnomAD v4
8g.6877780delCA2686023151DEFB1c.61+17del (n.61+17del)
gnomAD v4
8g.6877780C=CA1761188585DEFB1c.61+17G= (n.61+17G=)
8g.6877780C>GCA1761188586DEFB1c.61+17G>C (n.61+17G>C)
dbSNP
8g.6877780C>TCA2686023152DEFB1c.61+17G>A (n.61+17G>A)
gnomAD v4
8g.6877781A>GCA2686023153DEFB1c.61+16T>C (n.61+16T>C)
gnomAD v4
8g.6877782G>ACA1761188588DEFB1c.61+15C>T (n.61+15C>T)
dbSNP gnomAD v4
8g.6877782G>CCA2686023155DEFB1c.61+15C>G (n.61+15C>G)
gnomAD v4
8g.6877782G=CA1761188587DEFB1c.61+15C= (n.61+15C=)
8g.6877782G>TCA2686023154DEFB1c.61+15C>A (n.61+15C>A)
gnomAD v4
8g.6877783G>ACA579664758DEFB1c.61+14C>T (n.61+14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877783G>CCA171486123DEFB1c.61+14C>G (n.61+14C>G)
dbSNP gnomAD v4
8g.6877783G=CA1761188589DEFB1c.61+14C= (n.61+14C=)
8g.6877783G>TCA2686023156DEFB1c.61+14C>A (n.61+14C>A)
gnomAD v4
8g.6877784T>CCA1761188591DEFB1c.61+13A>G (n.61+13A>G)
dbSNP gnomAD v4
8g.6877784T=CA1761188590DEFB1c.61+13A= (n.61+13A=)
8g.6877785A=CA1761188592DEFB1c.61+12T= (n.61+12T=)
8g.6877785A>GCA4612866DEFB1c.61+12T>C (n.61+12T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877785A>TCA2686023157DEFB1c.61+12T>A (n.61+12T>A)
gnomAD v4
8g.6877786C>ACA2686023159DEFB1c.61+11G>T (n.61+11G>T)
gnomAD v4
8g.6877786C=CA1761188593DEFB1c.61+11G= (n.61+11G=)
8g.6877786C>GCA4612867DEFB1c.61+11G>C (n.61+11G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877786C>TCA2686023160DEFB1c.61+11G>A (n.61+11G>A)
gnomAD v4
8g.6877787delCA2686023158DEFB1c.61+11del (n.61+11del)
gnomAD v4
8g.6877786_6877787insTCA918194043DEFB1c.61+10_61+11insA (n.61+10_61+11insA)
dbSNP
8g.6877787C=CA1761188594DEFB1c.61+10G= (n.61+10G=)
8g.6877787C>TCA4612868DEFB1c.61+10G>A (n.61+10G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877788A=CA1761188595DEFB1c.61+9T= (n.61+9T=)
8g.6877788A>GCA1761188596DEFB1c.61+9T>C (n.61+9T>C)
dbSNP gnomAD v4
8g.6877789G>CCA459186050DEFB1c.61+8C>G (n.61+8C>G)
dbSNP
8g.6877789G=CA1761188597DEFB1c.61+8C= (n.61+8C=)
8g.6877789G>TCA4612869DEFB1c.61+8C>A (n.61+8C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877790A=CA1761188598DEFB1c.61+7T= (n.61+7T=)
8g.6877790A>CCA4612870DEFB1c.61+7T>G (n.61+7T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877790A>TCA2579088546DEFB1c.61+7T>A (n.61+7T>A)
8g.6877791G>ACA4612871DEFB1c.61+6C>T (n.61+6C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877791G>CCA579664770DEFB1c.61+6C>G (n.61+6C>G)
dbSNP gnomAD v2 gnomAD v4
8g.6877791G=CA1761188599DEFB1c.61+6C= (n.61+6C=)
8g.6877792C=CA1761188600DEFB1c.61+5G= (n.61+5G=)
8g.6877792C>GCA854609038DEFB1c.61+5G>C (n.61+5G>C)
dbSNP
8g.6877792C>TCA4612872DEFB1c.61+5G>A (n.61+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877793T>CCA2686023161DEFB1c.61+4A>G (n.61+4A>G)
gnomAD v4
8g.6877793T>GCA2686023162DEFB1c.61+4A>C (n.61+4A>C)
gnomAD v4
8g.6877795A>CCA370230781DEFB1c.61+2T>G (n.61+2T>G)
8g.6877795A>GCA370230782DEFB1c.61+2T>C (n.61+2T>C)
8g.6877795A>TCA370230783DEFB1c.61+2T>A (n.61+2T>A)
8g.6877796C>ACA370230785DEFB1c.61+1G>T (n.61+1G>T)
8g.6877796C=CA1761188601DEFB1c.61+1G= (n.61+1G=)
8g.6877796C>GCA4612873DEFB1c.61+1G>C (n.61+1G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877796C>TCA370230787DEFB1c.61+1G>A (n.61+1G>A)
gnomAD v4
8g.6877797delCA2579088547DEFB1c.61+1del
8g.6877797C>ACA171486173DEFB1c.61G>T (p.Gly21Cys)
dbSNP gnomAD v4
8g.6877797C=CA1761188602DEFB1c.61G= (p.Gly21=)
8g.6877797C>GCA4612874DEFB1c.61G>C (p.Gly21Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877797C>TCA171486174DEFB1c.61G>A (p.Gly21Ser)
dbSNP gnomAD v4
8g.6877798T>ACA459186101DEFB1c.60A>T (p.Ser20=)
8g.6877798T>CCA459186103DEFB1c.60A>G (p.Ser20=)
8g.6877798T>GCA459186107DEFB1c.60A>C (p.Ser20=)
8g.6877799G>ACA370230792DEFB1c.59C>T (p.Ser20Leu)
8g.6877799G>CCA370230793DEFB1c.59C>G (p.Ser20Ter)
gnomAD v4
8g.6877799G>TCA370230794DEFB1c.59C>A (p.Ser20Ter)
8g.6877800A>CCA370230799DEFB1c.58T>G (p.Ser20Ala)
8g.6877800A>GCA370230796DEFB1c.58T>C (p.Ser20Pro)
8g.6877800A>TCA370230797DEFB1c.58T>A (p.Ser20Thr)
8g.6877801G>ACA459186122DEFB1c.57C>T (p.Ala19=)
8g.6877801G>CCA459186119DEFB1c.57C>G (p.Ala19=)
8g.6877801G=CA1761188603DEFB1c.57C= (p.Ala19=)
8g.6877801G>TCA459186116DEFB1c.57C>A (p.Ala19=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877802G>ACA370230801DEFB1c.56C>T (p.Ala19Val)
gnomAD v4
8g.6877802G>CCA370230803DEFB1c.56C>G (p.Ala19Gly)
gnomAD v4
8g.6877802G=CA1761188604DEFB1c.56C= (p.Ala19=)
8g.6877802G>TCA370230804DEFB1c.56C>A (p.Ala19Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877803C>ACA370230806DEFB1c.55G>T (p.Ala19Ser)
gnomAD v4
8g.6877803C=CA1761188605DEFB1c.55G= (p.Ala19=)
8g.6877803C>GCA370230808DEFB1c.55G>C (p.Ala19Pro)
gnomAD v4
8g.6877803C>TCA4612875DEFB1c.55G>A (p.Ala19Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877804delCA2778897141DEFB1c.55del (p.Ala19ProfsTer?)
8g.6877804C>ACA370230811DEFB1c.54G>T (p.Met18Ile)
gnomAD v4
8g.6877804C=CA1761188606DEFB1c.54G= (p.Met18=)
8g.6877804C>GCA370230813DEFB1c.54G>C (p.Met18Ile)
dbSNP gnomAD v2 gnomAD v4
8g.6877804C>TCA370230814DEFB1c.54G>A (p.Met18Ile)
dbSNP gnomAD v4
8g.6877805A>CCA370230816DEFB1c.53T>G (p.Met18Arg)
gnomAD v4
8g.6877805A>GCA370230818DEFB1c.53T>C (p.Met18Thr)
gnomAD v4
8g.6877805A>TCA370230819DEFB1c.53T>A (p.Met18Lys)
8g.6877806T>ACA370230822DEFB1c.52A>T (p.Met18Leu)
gnomAD v4
8g.6877806T>CCA370230824DEFB1c.52A>G (p.Met18Val)
8g.6877806T>GCA370230821DEFB1c.52A>C (p.Met18Leu)
8g.6877807C>ACA370230827DEFB1c.51G>T (p.Glu17Asp)
8g.6877807C>GCA370230826DEFB1c.51G>C (p.Glu17Asp)
8g.6877807C>TCA459186176DEFB1c.51G>A (p.Glu17=)
8g.6877808T>ACA370230830DEFB1c.50A>T (p.Glu17Val)
8g.6877808T>CCA370230831DEFB1c.50A>G (p.Glu17Gly)
8g.6877808T>GCA370230833DEFB1c.50A>C (p.Glu17Ala)
8g.6877809C>ACA370230834DEFB1c.49G>T (p.Glu17Ter)
8g.6877809C=CA1761188607DEFB1c.49G= (p.Glu17=)
8g.6877809C>GCA4612876DEFB1c.49G>C (p.Glu17Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877809C>TCA370230836DEFB1c.49G>A (p.Glu17Lys)
8g.6877810A>CCA459186197DEFB1c.48T>G (p.Ser16=)
8g.6877810A>GCA459186200DEFB1c.48T>C (p.Ser16=)
8g.6877810A>TCA459186203DEFB1c.48T>A (p.Ser16=)
8g.6877811G>ACA370230837DEFB1c.47C>T (p.Ser16Phe)
8g.6877811G>CCA370230838DEFB1c.47C>G (p.Ser16Cys)
8g.6877811G>TCA370230840DEFB1c.47C>A (p.Ser16Tyr)
gnomAD v4
8g.6877812A>CCA370230842DEFB1c.46T>G (p.Ser16Ala)
8g.6877812A>GCA370230844DEFB1c.46T>C (p.Ser16Pro)
8g.6877812A>TCA370230845DEFB1c.46T>A (p.Ser16Thr)
8g.6877813C>ACA370230847DEFB1c.45G>T (p.Leu15Phe)
8g.6877813C=CA1761188608DEFB1c.45G= (p.Leu15=)
8g.6877813C>GCA4612877DEFB1c.45G>C (p.Leu15Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877813C>TCA459186229DEFB1c.45G>A (p.Leu15=)
8g.6877814A>CCA370230848DEFB1c.44T>G (p.Leu15Trp)
8g.6877814A>GCA370230850DEFB1c.44T>C (p.Leu15Ser)
8g.6877814A>TCA370230852DEFB1c.44T>A (p.Leu15Ter)
8g.6877817delCA579664783DEFB1c.44del (p.Leu15CysfsTer?)
gnomAD v2 gnomAD v4
8g.6877815A>CCA370230853DEFB1c.43T>G (p.Leu15Val)
8g.6877815A>GCA459186246DEFB1c.43T>C (p.Leu15=)
8g.6877815A>TCA370230855DEFB1c.43T>A (p.Leu15Met)
8g.6877816A=CA1761188609DEFB1c.42T= (p.Leu14=)
8g.6877816A>CCA459186253DEFB1c.42T>G (p.Leu14=)
dbSNP gnomAD v2 gnomAD v4
8g.6877816A>GCA459186258DEFB1c.42T>C (p.Leu14=)
8g.6877816A>TCA459186262DEFB1c.42T>A (p.Leu14=)
8g.6877817A>CCA370230857DEFB1c.41T>G (p.Leu14Arg)
8g.6877817A>GCA370230858DEFB1c.41T>C (p.Leu14Pro)
8g.6877817A>TCA370230859DEFB1c.41T>A (p.Leu14His)
8g.6877818G>ACA370230861DEFB1c.40C>T (p.Leu14Phe)
8g.6877818G>CCA370230862DEFB1c.40C>G (p.Leu14Val)
8g.6877818G>TCA370230864DEFB1c.40C>A (p.Leu14Ile)
8g.6877819T>ACA370230866DEFB1c.39A>T (p.Leu13Phe)
8g.6877819T>CCA459186284DEFB1c.39A>G (p.Leu13=)
8g.6877819T>GCA370230867DEFB1c.39A>C (p.Leu13Phe)
8g.6877820A>CCA370230872DEFB1c.38T>G (p.Leu13Ter)
8g.6877820A>GCA370230871DEFB1c.38T>C (p.Leu13Ser)
8g.6877820A>TCA370230869DEFB1c.38T>A (p.Leu13Ter)
gnomAD v4
8g.6877821A>CCA370230874DEFB1c.37T>G (p.Leu13Val)
8g.6877821A>GCA459186295DEFB1c.37T>C (p.Leu13=)
8g.6877821A>TCA370230876DEFB1c.37T>A (p.Leu13Ile)
8g.6877822G>ACA4612878DEFB1c.36C>T (p.Cys12=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877822G>CCA370230878DEFB1c.36C>G (p.Cys12Trp)
8g.6877822G=CA1761188610DEFB1c.36C= (p.Cys12=)
8g.6877822G>TCA370230880DEFB1c.36C>A (p.Cys12Ter)
8g.6877823C>ACA370230882DEFB1c.35G>T (p.Cys12Phe)
8g.6877823C=CA1761188612DEFB1c.35G= (p.Cys12=)
8g.6877823C>GCA370230884DEFB1c.35G>C (p.Cys12Ser)
8g.6877823C>TCA4612879DEFB1c.35G>A (p.Cys12Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877823_6877824delinsCACA1761188611DEFB1c.34_35delinsTG (p.Cys12=)
8g.6877824delCA4612880DEFB1c.34del (p.Cys12AlafsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877824A>CCA370230885DEFB1c.34T>G (p.Cys12Gly)
8g.6877824A>GCA370230887DEFB1c.34T>C (p.Cys12Arg)
gnomAD v4
8g.6877824A>TCA370230888DEFB1c.34T>A (p.Cys12Ser)
8g.6877825G>ACA459186335DEFB1c.33C>T (p.Leu11=)
gnomAD v4
8g.6877825G>CCA171486188DEFB1c.33C>G (p.Leu11=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.6877825G=CA1761188613DEFB1c.33C= (p.Leu11=)
8g.6877825G>TCA459186340DEFB1c.33C>A (p.Leu11=)
8g.6877826A=CA1761188614DEFB1c.32T= (p.Leu11=)
8g.6877826A>CCA370230893DEFB1c.32T>G (p.Leu11Arg)
8g.6877826A>GCA370230894DEFB1c.32T>C (p.Leu11Pro)
dbSNP
8g.6877826A>TCA370230891DEFB1c.32T>A (p.Leu11His)
8g.6877827G>ACA370230895DEFB1c.31C>T (p.Leu11Phe)
8g.6877827G>CCA4612881DEFB1c.31C>G (p.Leu11Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877827G=CA1761188615DEFB1c.31C= (p.Leu11=)
8g.6877827G>TCA370230897DEFB1c.31C>A (p.Leu11Ile)
gnomAD v4
8g.6877828A=CA1761188616DEFB1c.30T= (p.Thr10=)
8g.6877828A>CCA459186361DEFB1c.30T>G (p.Thr10=)
8g.6877828A>GCA459186364DEFB1c.30T>C (p.Thr10=)
dbSNP
8g.6877828A>TCA459186367DEFB1c.30T>A (p.Thr10=)
8g.6877829G>ACA370230899DEFB1c.29C>T (p.Thr10Ile)
8g.6877829G>CCA4612882DEFB1c.29C>G (p.Thr10Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877829G=CA1761188617DEFB1c.29C= (p.Thr10=)
8g.6877829G>TCA370230901DEFB1c.29C>A (p.Thr10Asn)
8g.6877830T>ACA370230903DEFB1c.28A>T (p.Thr10Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877830T>CCA370230906DEFB1c.28A>G (p.Thr10Ala)
gnomAD v4
8g.6877830T>GCA171486222DEFB1c.28A>C (p.Thr10Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.6877830T=CA1761188618DEFB1c.28A= (p.Thr10=)
8g.6877831A>CCA370230908DEFB1c.27T>G (p.Phe9Leu)
8g.6877831A>GCA459186393DEFB1c.27T>C (p.Phe9=)
8g.6877831A>TCA370230909DEFB1c.27T>A (p.Phe9Leu)
8g.6877832A>CCA370230910DEFB1c.26T>G (p.Phe9Cys)
gnomAD v4
8g.6877832A>GCA370230912DEFB1c.26T>C (p.Phe9Ser)
8g.6877832A>TCA370230914DEFB1c.26T>A (p.Phe9Tyr)
8g.6877833A>CCA370230917DEFB1c.25T>G (p.Phe9Val)
8g.6877833A>GCA370230918DEFB1c.25T>C (p.Phe9Leu)
8g.6877833A>TCA370230916DEFB1c.25T>A (p.Phe9Ile)
8g.6877834C>ACA459186424DEFB1c.24G>T (p.Leu8=)
8g.6877834C=CA1761188619DEFB1c.24G= (p.Leu8=)
8g.6877834C>GCA459186428DEFB1c.24G>C (p.Leu8=)
gnomAD v4
8g.6877834C>TCA459186432DEFB1c.24G>A (p.Leu8=)
dbSNP gnomAD v2 gnomAD v4
8g.6877835A>CCA370230922DEFB1c.23T>G (p.Leu8Arg)
8g.6877835A>GCA370230920DEFB1c.23T>C (p.Leu8Pro)
8g.6877835A>TCA370230923DEFB1c.23T>A (p.Leu8Gln)
8g.6877836G>ACA459186445DEFB1c.22C>T (p.Leu8=)
8g.6877836G>CCA370230924DEFB1c.22C>G (p.Leu8Val)
dbSNP
8g.6877836G=CA1761188620DEFB1c.22C= (p.Leu8=)
8g.6877836G>TCA370230925DEFB1c.22C>A (p.Leu8Met)
8g.6877837C>ACA459186455DEFB1c.21G>T (p.Leu7=)
8g.6877837C=CA1761188621DEFB1c.21G= (p.Leu7=)
8g.6877837C>GCA459186458DEFB1c.21G>C (p.Leu7=)
8g.6877837C>TCA459186461DEFB1c.21G>A (p.Leu7=)
dbSNP gnomAD v4
8g.6877838A=CA1761188622DEFB1c.20T= (p.Leu7=)
8g.6877838A>CCA370230926DEFB1c.20T>G (p.Leu7Arg)
8g.6877838A>GCA4612883DEFB1c.20T>C (p.Leu7Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877838A>TCA370230928DEFB1c.20T>A (p.Leu7Gln)
8g.6877839G>ACA459186468DEFB1c.19C>T (p.Leu7=)
dbSNP
8g.6877839G>CCA370230930DEFB1c.19C>G (p.Leu7Val)
gnomAD v4
8g.6877839G=CA1761188623DEFB1c.19C= (p.Leu7=)
8g.6877839G>TCA370230931DEFB1c.19C>A (p.Leu7Met)
gnomAD v4
8g.6877840A>CCA459186479DEFB1c.18T>G (p.Leu6=)
8g.6877840A>GCA459186481DEFB1c.18T>C (p.Leu6=)
gnomAD v4
8g.6877840A>TCA459186483DEFB1c.18T>A (p.Leu6=)
8g.6877841A>CCA370230935DEFB1c.17T>G (p.Leu6Arg)
8g.6877841A>GCA370230933DEFB1c.17T>C (p.Leu6Pro)
8g.6877841A>TCA370230932DEFB1c.17T>A (p.Leu6His)
8g.6877842G>ACA4612885DEFB1c.16C>T (p.Leu6Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877842G>CCA4612884DEFB1c.16C>G (p.Leu6Val)
dbSNP ExAC gnomAD v2
8g.6877842G=CA1761188624DEFB1c.16C= (p.Leu6=)
8g.6877842G>TCA370230937DEFB1c.16C>A (p.Leu6Ile)
gnomAD v4
8g.6877843G>ACA4612886DEFB1c.15C>T (p.Tyr5=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877843G>CCA4612887DEFB1c.15C>G (p.Tyr5Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877843G=CA1761188625DEFB1c.15C= (p.Tyr5=)
8g.6877843G>TCA370230939DEFB1c.15C>A (p.Tyr5Ter)
gnomAD v4
8g.6877844T>ACA370230945DEFB1c.14A>T (p.Tyr5Phe)
8g.6877844T>CCA370230942DEFB1c.14A>G (p.Tyr5Cys)
COSMIC
8g.6877844T>GCA370230944DEFB1c.14A>C (p.Tyr5Ser)
8g.6877845A=CA1761188626DEFB1c.13T= (p.Tyr5=)
8g.6877845A>CCA370230947DEFB1c.13T>G (p.Tyr5Asp)
8g.6877845A>GCA370230949DEFB1c.13T>C (p.Tyr5His)
dbSNP gnomAD v2 gnomAD v4
8g.6877845A>TCA370230951DEFB1c.13T>A (p.Tyr5Asn)
gnomAD v4
8g.6877846G>ACA4612888DEFB1c.12C>T (p.Ser4=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877846G>CCA459186535DEFB1c.12C>G (p.Ser4=)
dbSNP gnomAD v2 gnomAD v4
8g.6877846G=CA1761188627DEFB1c.12C= (p.Ser4=)
8g.6877846G>TCA459186540DEFB1c.12C>A (p.Ser4=)
8g.6877847G>ACA370230954DEFB1c.11C>T (p.Ser4Phe)
gnomAD v4
8g.6877847G>CCA370230955DEFB1c.11C>G (p.Ser4Cys)
8g.6877847G>TCA370230957DEFB1c.11C>A (p.Ser4Tyr)
8g.6877848A>CCA370230959DEFB1c.10T>G (p.Ser4Ala)
8g.6877848A>GCA370230961DEFB1c.10T>C (p.Ser4Pro)
8g.6877848A>TCA370230962DEFB1c.10T>A (p.Ser4Thr)
8g.6877849A=CA1761188628DEFB1c.9T= (p.Thr3=)
8g.6877849A>CCA459186559DEFB1c.9T>G (p.Thr3=)
dbSNP gnomAD v2 gnomAD v4
8g.6877849A>GCA459186566DEFB1c.9T>C (p.Thr3=)
gnomAD v4
8g.6877849A>TCA459186563DEFB1c.9T>A (p.Thr3=)
8g.6877850G>ACA4612889DEFB1c.8C>T (p.Thr3Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.6877850G>CCA370230964DEFB1c.8C>G (p.Thr3Ser)
8g.6877850G=CA1761188629DEFB1c.8C= (p.Thr3=)
8g.6877850G>TCA370230966DEFB1c.8C>A (p.Thr3Asn)
COSMIC
8g.6877851T>ACA370230968DEFB1c.7A>T (p.Thr3Ser)
8g.6877851T>CCA370230970DEFB1c.7A>G (p.Thr3Ala)
8g.6877851T>GCA370230969DEFB1c.7A>C (p.Thr3Pro)
8g.6877852T>ACA370230972DEFB1c.6A>T (p.Arg2Ser)
8g.6877852T>CCA459186593DEFB1c.6A>G (p.Arg2=)
8g.6877852T>GCA370230973DEFB1c.6A>C (p.Arg2Ser)
8g.6877853C>ACA370230975DEFB1c.5G>T (p.Arg2Ile)
gnomAD v4
8g.6877853C=CA1761188630DEFB1c.5G= (p.Arg2=)
8g.6877853C>GCA370230976DEFB1c.5G>C (p.Arg2Thr)
dbSNP gnomAD v4
8g.6877853C>TCA171486274DEFB1c.5G>A (p.Arg2Lys)
dbSNP gnomAD v2 gnomAD v4
8g.6877854T>ACA370230978DEFB1c.4A>T (p.Arg2Ter)
8g.6877854T>CCA370230980DEFB1c.4A>G (p.Arg2Gly)
8g.6877854T>GCA459186606DEFB1c.4A>C (p.Arg2=)
8g.6877855C>ACA370230981DEFB1c.3G>T (p.Met1Ile)
8g.6877855C=CA1761188631DEFB1c.3G= (p.Met1=)
8g.6877855C>GCA370230983DEFB1c.3G>C (p.Met1Ile)
8g.6877855C>TCA4612890DEFB1c.3G>A (p.Met1Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.6877856A>CCA370230985DEFB1c.2T>G (p.Met1Arg)
gnomAD v4
8g.6877856A>GCA370230987DEFB1c.2T>C (p.Met1Thr)
8g.6877856A>TCA370230989DEFB1c.2T>A (p.Met1Lys)

Number of alleles fetched