Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.46752478_46756014delCA16616280FKRPc.-39-2934_564del
n.246+3813_247-5819del
n.247+3813_247+7349del
 ClinVar
19g.46755883_46755905delCA2695201349FKRPc.433_455del (p.Val145ArgfsTer?)
c.4_26del (p.Val2ArgfsTer?)
n.247-5950_247-5928del
n.247+7218_247+7240del
 ClinVar
19g.46755894C>ACA507975331FKRPc.444C>A (p.Leu148=)
c.15C>A (p.Leu5=)
n.247-5939C>A
n.247+7229C>A
 gnomAD v4
19g.46755894C=CA2339067288FKRPc.444C= (p.Leu148=)
c.15C= (p.Leu5=)
n.247-5939C=
n.247+7229C=
19g.46755894C>GCA507975329FKRPc.444C>G (p.Leu148=)
c.15C>G (p.Leu5=)
n.247-5939C>G
n.247+7229C>G
 gnomAD v4
19g.46755894C>TCA507975330FKRPc.444C>T (p.Leu148=)
c.15C>T (p.Leu5=)
n.247-5939C>T
n.247+7229C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.46755895C>ACA406495343FKRPc.445C>A (p.Arg149Ser)
c.16C>A (p.Arg6Ser)
n.247-5938C>A
n.247+7230C>A
 gnomAD v4
19g.46755895C=CA2339067290FKRPc.445C= (p.Arg149=)
c.16C= (p.Arg6=)
n.247-5938C=
n.247+7230C=
19g.46755895C>GCA406495342FKRPc.445C>G (p.Arg149Gly)
c.16C>G (p.Arg6Gly)
n.247-5938C>G
n.247+7230C>G
 gnomAD v4
19g.46755895C>TCA406495341FKRPc.445C>T (p.Arg149Cys)
c.16C>T (p.Arg6Cys)
n.247-5938C>T
n.247+7230C>T
 dbSNP gnomAD v3 gnomAD v4
19g.46755896G>ACA406495346FKRPc.446G>A (p.Arg149His)
c.17G>A (p.Arg6His)
n.247-5937G>A
n.247+7231G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755896G>CCA406495344FKRPc.446G>C (p.Arg149Pro)
c.17G>C (p.Arg6Pro)
n.247-5937G>C
n.247+7231G>C
19g.46755896G=CA2339067293FKRPc.446G= (p.Arg149=)
c.17G= (p.Arg6=)
n.247-5937G=
n.247+7231G=
19g.46755896G>TCA406495345FKRPc.446G>T (p.Arg149Leu)
c.17G>T (p.Arg6Leu)
n.247-5937G>T
n.247+7231G>T
 gnomAD v4
19g.46755897_46755901delCA2580097436FKRPc.447_451del (p.Ala150LysfsTer?)
c.18_22del (p.Ala7LysfsTer?)
n.247-5936_247-5932del
n.247+7232_247+7236del
 ClinVar
19g.46755897C>ACA507975335FKRPc.447C>A (p.Arg149=)
c.18C>A (p.Arg6=)
n.247-5936C>A
n.247+7232C>A
 gnomAD v4
19g.46755897C=CA2339067294FKRPc.447C= (p.Arg149=)
c.18C= (p.Arg6=)
n.247-5936C=
n.247+7232C=
19g.46755897C>GCA507975337FKRPc.447C>G (p.Arg149=)
c.18C>G (p.Arg6=)
n.247-5936C>G
n.247+7232C>G
 dbSNP gnomAD v3 gnomAD v4
19g.46755897C>TCA507975336FKRPc.447C>T (p.Arg149=)
c.18C>T (p.Arg6=)
n.247-5936C>T
n.247+7232C>T
 dbSNP gnomAD v3 gnomAD v4
19g.46755898G>ACA406495347FKRPc.448G>A (p.Ala150Thr)
c.19G>A (p.Ala7Thr)
n.247-5935G>A
n.247+7233G>A
 ClinVar dbSNP gnomAD v4
19g.46755898G>CCA406495348FKRPc.448G>C (p.Ala150Pro)
c.19G>C (p.Ala7Pro)
n.247-5935G>C
n.247+7233G>C
 dbSNP gnomAD v3 gnomAD v4
19g.46755898G=CA2339067295FKRPc.448G= (p.Ala150=)
c.19G= (p.Ala7=)
n.247-5935G=
n.247+7233G=
19g.46755898G>TCA406495349FKRPc.448G>T (p.Ala150Ser)
c.19G>T (p.Ala7Ser)
n.247-5935G>T
n.247+7233G>T
 gnomAD v4
19g.46755899C>ACA406495351FKRPc.449C>A (p.Ala150Glu)
c.20C>A (p.Ala7Glu)
n.247-5934C>A
n.247+7234C>A
 gnomAD v4
19g.46755899C=CA2339067297FKRPc.449C= (p.Ala150=)
c.20C= (p.Ala7=)
n.247-5934C=
n.247+7234C=
19g.46755899C>GCA9532151FKRPc.449C>G (p.Ala150Gly)
c.20C>G (p.Ala7Gly)
n.247-5934C>G
n.247+7234C>G
 dbSNP ExAC gnomAD v2
19g.46755899C>TCA406495350FKRPc.449C>T (p.Ala150Val)
c.20C>T (p.Ala7Val)
n.247-5934C>T
n.247+7234C>T
 gnomAD v4
19g.46755900A=CA2339067298FKRPc.450A= (p.Ala150=)
c.21A= (p.Ala7=)
n.247-5933A=
n.247+7235A=
19g.46755900A>CCA507975342FKRPc.450A>C (p.Ala150=)
c.21A>C (p.Ala7=)
n.247-5933A>C
n.247+7235A>C
19g.46755900A>GCA507975343FKRPc.450A>G (p.Ala150=)
c.21A>G (p.Ala7=)
n.247-5933A>G
n.247+7235A>G
19g.46755900A>TCA507975344FKRPc.450A>T (p.Ala150=)
c.21A>T (p.Ala7=)
n.247-5933A>T
n.247+7235A>T
 dbSNP gnomAD v2 gnomAD v4
19g.46755901G>ACA406495352FKRPc.451G>A (p.Gly151Arg)
c.22G>A (p.Gly8Arg)
n.247-5932G>A
n.247+7236G>A
19g.46755901G>CCA406495353FKRPc.451G>C (p.Gly151Arg)
c.22G>C (p.Gly8Arg)
n.247-5932G>C
n.247+7236G>C
19g.46755901G>TCA406495354FKRPc.451G>T (p.Gly151Ter)
c.22G>T (p.Gly8Ter)
n.247-5932G>T
n.247+7236G>T
 gnomAD v4
19g.46755902G>ACA406495355FKRPc.452G>A (p.Gly151Glu)
c.23G>A (p.Gly8Glu)
n.247-5931G>A
n.247+7237G>A
 dbSNP gnomAD v4
19g.46755902G>CCA406495356FKRPc.452G>C (p.Gly151Ala)
c.23G>C (p.Gly8Ala)
n.247-5931G>C
n.247+7237G>C
 ClinVar dbSNP gnomAD v4
19g.46755902G=CA2339067299FKRPc.452G= (p.Gly151=)
c.23G= (p.Gly8=)
n.247-5931G=
n.247+7237G=
19g.46755902G>TCA406495357FKRPc.452G>T (p.Gly151Val)
c.23G>T (p.Gly8Val)
n.247-5931G>T
n.247+7237G>T
 gnomAD v4
19g.46755903A>CCA507975347FKRPc.453A>C (p.Gly151=)
c.24A>C (p.Gly8=)
n.247-5930A>C
n.247+7238A>C
19g.46755903A>GCA507975349FKRPc.453A>G (p.Gly151=)
c.24A>G (p.Gly8=)
n.247-5930A>G
n.247+7238A>G
19g.46755903A>TCA507975352FKRPc.453A>T (p.Gly151=)
c.24A>T (p.Gly8=)
n.247-5930A>T
n.247+7238A>T
19g.46755904A>CCA406495358FKRPc.454A>C (p.Ser152Arg)
c.25A>C (p.Ser9Arg)
n.247-5929A>C
n.247+7239A>C
19g.46755904A>GCA406495360FKRPc.454A>G (p.Ser152Gly)
c.25A>G (p.Ser9Gly)
n.247-5929A>G
n.247+7239A>G
19g.46755904A>TCA406495359FKRPc.454A>T (p.Ser152Cys)
c.25A>T (p.Ser9Cys)
n.247-5929A>T
n.247+7239A>T
19g.46755905G>ACA406495361FKRPc.455G>A (p.Ser152Asn)
c.26G>A (p.Ser9Asn)
n.247-5928G>A
n.247+7240G>A
19g.46755905G>CCA406495362FKRPc.455G>C (p.Ser152Thr)
c.26G>C (p.Ser9Thr)
n.247-5928G>C
n.247+7240G>C
19g.46755905G>TCA406495363FKRPc.455G>T (p.Ser152Ile)
c.26G>T (p.Ser9Ile)
n.247-5928G>T
n.247+7240G>T
 gnomAD v4
19g.46755906C>ACA406495364FKRPc.456C>A (p.Ser152Arg)
c.27C>A (p.Ser9Arg)
n.247-5927C>A
n.247+7241C>A
19g.46755906C=CA2339067302FKRPc.456C= (p.Ser152=)
c.27C= (p.Ser9=)
n.247-5927C=
n.247+7241C=
19g.46755906C>GCA9532153FKRPc.456C>G (p.Ser152Arg)
c.27C>G (p.Ser9Arg)
n.247-5927C>G
n.247+7241C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755906C>TCA9532152FKRPc.456C>T (p.Ser152=)
c.27C>T (p.Ser9=)
n.247-5927C>T
n.247+7241C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755907G>ACA406495365FKRPc.457G>A (p.Ala153Thr)
c.28G>A (p.Ala10Thr)
n.247-5926G>A
n.247+7242G>A
 dbSNP gnomAD v4
19g.46755907G>CCA406495366FKRPc.457G>C (p.Ala153Pro)
c.28G>C (p.Ala10Pro)
n.247-5926G>C
n.247+7242G>C
19g.46755907G>TCA406495367FKRPc.457G>T (p.Ala153Ser)
c.28G>T (p.Ala10Ser)
n.247-5926G>T
n.247+7242G>T
 gnomAD v4
19g.46755908C>ACA406495368FKRPc.458C>A (p.Ala153Glu)
c.29C>A (p.Ala10Glu)
n.247-5925C>A
n.247+7243C>A
 gnomAD v4
19g.46755908C=CA2339067305FKRPc.458C= (p.Ala153=)
c.29C= (p.Ala10=)
n.247-5925C=
n.247+7243C=
19g.46755908C>GCA406495369FKRPc.458C>G (p.Ala153Gly)
c.29C>G (p.Ala10Gly)
n.247-5925C>G
n.247+7243C>G
 dbSNP gnomAD v2 gnomAD v4
19g.46755908C>TCA406495370FKRPc.458C>T (p.Ala153Val)
c.29C>T (p.Ala10Val)
n.247-5925C>T
n.247+7243C>T
 gnomAD v4
19g.46755909A>CCA507975370FKRPc.459A>C (p.Ala153=)
c.30A>C (p.Ala10=)
n.247-5924A>C
n.247+7244A>C
 gnomAD v4
19g.46755909A>GCA507975372FKRPc.459A>G (p.Ala153=)
c.30A>G (p.Ala10=)
n.247-5924A>G
n.247+7244A>G
19g.46755909A>TCA507975374FKRPc.459A>T (p.Ala153=)
c.30A>T (p.Ala10=)
n.247-5924A>T
n.247+7244A>T
19g.46755910C>ACA406495372FKRPc.460C>A (p.Arg154Ser)
c.31C>A (p.Arg11Ser)
n.247-5923C>A
n.247+7245C>A
 gnomAD v4
19g.46755910C=CA2339067306FKRPc.460C= (p.Arg154=)
c.31C= (p.Arg11=)
n.247-5923C=
n.247+7245C=
19g.46755910C>GCA406495373FKRPc.460C>G (p.Arg154Gly)
c.31C>G (p.Arg11Gly)
n.247-5923C>G
n.247+7245C>G
 gnomAD v4
19g.46755910C>TCA406495371FKRPc.460C>T (p.Arg154Cys)
c.31C>T (p.Arg11Cys)
n.247-5923C>T
n.247+7245C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755911G>ACA406495374FKRPc.461G>A (p.Arg154His)
c.32G>A (p.Arg11His)
n.247-5922G>A
n.247+7246G>A
 gnomAD v4 COSMIC
19g.46755911G>CCA406495375FKRPc.461G>C (p.Arg154Pro)
c.32G>C (p.Arg11Pro)
n.247-5922G>C
n.247+7246G>C
 gnomAD v4
19g.46755911G>TCA406495376FKRPc.461G>T (p.Arg154Leu)
c.32G>T (p.Arg11Leu)
n.247-5922G>T
n.247+7246G>T
 gnomAD v4
19g.46755912T>ACA507975383FKRPc.462T>A (p.Arg154=)
c.33T>A (p.Arg11=)
n.247-5921T>A
n.247+7247T>A
19g.46755912T>CCA507975382FKRPc.462T>C (p.Arg154=)
c.33T>C (p.Arg11=)
n.247-5921T>C
n.247+7247T>C
19g.46755912T>GCA507975381FKRPc.462T>G (p.Arg154=)
c.33T>G (p.Arg11=)
n.247-5921T>G
n.247+7247T>G
19g.46755913_46755914delCA913018604FKRPc.463_464del (p.Leu155GlyfsTer?)
c.34_35del (p.Leu12GlyfsTer?)
n.247-5920_247-5919del
n.247+7248_247+7249del
19g.46755913C>ACA406495377FKRPc.463C>A (p.Leu155Met)
c.34C>A (p.Leu12Met)
n.247-5920C>A
n.247+7248C>A
19g.46755913C=CA2339067308FKRPc.463C= (p.Leu155=)
c.34C= (p.Leu12=)
n.247-5920C=
n.247+7248C=
19g.46755913C>GCA406495378FKRPc.463C>G (p.Leu155Val)
c.34C>G (p.Leu12Val)
n.247-5920C>G
n.247+7248C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755913C>TCA507975386FKRPc.463C>T (p.Leu155=)
c.34C>T (p.Leu12=)
n.247-5920C>T
n.247+7248C>T
 gnomAD v4
19g.46755913_46755914delinsCTCA2339067309FKRPc.463_464delinsCT (p.Leu155=)
c.34_35delinsCT (p.Leu12=)
n.247-5920_247-5919delinsCT
n.247+7248_247+7249delinsCT
19g.46755914delCA658825097FKRPc.464del (p.Leu155ArgfsTer17)
c.35del (p.Leu12ArgfsTer17)
n.247-5919del
n.247+7249del
c.464del (p.Leu155ArgfsTer?)
 ClinVar dbSNP
19g.46755914T>ACA406495381FKRPc.464T>A (p.Leu155Gln)
c.35T>A (p.Leu12Gln)
n.247-5919T>A
n.247+7249T>A
 gnomAD v4
19g.46755914T>CCA406495380FKRPc.464T>C (p.Leu155Pro)
c.35T>C (p.Leu12Pro)
n.247-5919T>C
n.247+7249T>C
19g.46755914T>GCA406495379FKRPc.464T>G (p.Leu155Arg)
c.35T>G (p.Leu12Arg)
n.247-5919T>G
n.247+7249T>G
19g.46755915G>ACA507975389FKRPc.465G>A (p.Leu155=)
c.36G>A (p.Leu12=)
n.247-5918G>A
n.247+7250G>A
 gnomAD v4
19g.46755915G>CCA507975390FKRPc.465G>C (p.Leu155=)
c.36G>C (p.Leu12=)
n.247-5918G>C
n.247+7250G>C
19g.46755915G>TCA507975392FKRPc.465G>T (p.Leu155=)
c.36G>T (p.Leu12=)
n.247-5918G>T
n.247+7250G>T
 gnomAD v4
19g.46755916G>ACA9532154FKRPc.466G>A (p.Val156Met)
c.37G>A (p.Val13Met)
n.247-5917G>A
n.247+7251G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.46755916G>CCA406495382FKRPc.466G>C (p.Val156Leu)
c.37G>C (p.Val13Leu)
n.247-5917G>C
n.247+7251G>C
19g.46755916G=CA2339067316FKRPc.466G= (p.Val156=)
c.37G= (p.Val13=)
n.247-5917G=
n.247+7251G=
19g.46755916G>TCA406495383FKRPc.466G>T (p.Val156Leu)
c.37G>T (p.Val13Leu)
n.247-5917G>T
n.247+7251G>T
 gnomAD v4
19g.46755917T>ACA406495384FKRPc.467T>A (p.Val156Glu)
c.38T>A (p.Val13Glu)
n.247-5916T>A
n.247+7252T>A
19g.46755917T>CCA406495385FKRPc.467T>C (p.Val156Ala)
c.38T>C (p.Val13Ala)
n.247-5916T>C
n.247+7252T>C
 ClinVar
19g.46755917T>GCA406495386FKRPc.467T>G (p.Val156Gly)
c.38T>G (p.Val13Gly)
n.247-5916T>G
n.247+7252T>G
19g.46755918G>ACA507975398FKRPc.468G>A (p.Val156=)
c.39G>A (p.Val13=)
n.247-5915G>A
n.247+7253G>A
19g.46755918G>CCA507975396FKRPc.468G>C (p.Val156=)
c.39G>C (p.Val13=)
n.247-5915G>C
n.247+7253G>C
19g.46755918G>TCA507975397FKRPc.468G>T (p.Val156=)
c.39G>T (p.Val13=)
n.247-5915G>T
n.247+7253G>T
 gnomAD v4
19g.46755919G>ACA406495388FKRPc.469G>A (p.Ala157Thr)
c.40G>A (p.Ala14Thr)
n.247-5914G>A
n.247+7254G>A
 gnomAD v4
19g.46755919G>CCA295341FKRPc.469G>C (p.Ala157Pro)
c.40G>C (p.Ala14Pro)
n.247-5914G>C
n.247+7254G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755919G=CA2339067318FKRPc.469G= (p.Ala157=)
c.40G= (p.Ala14=)
n.247-5914G=
n.247+7254G=
19g.46755919G>TCA406495387FKRPc.469G>T (p.Ala157Ser)
c.40G>T (p.Ala14Ser)
n.247-5914G>T
n.247+7254G>T
 gnomAD v4
19g.46755920C>ACA406495389FKRPc.470C>A (p.Ala157Asp)
c.41C>A (p.Ala14Asp)
n.247-5913C>A
n.247+7255C>A
 gnomAD v4
19g.46755920C>GCA406495390FKRPc.470C>G (p.Ala157Gly)
c.41C>G (p.Ala14Gly)
n.247-5913C>G
n.247+7255C>G
 ClinVar dbSNP gnomAD v4
19g.46755920C>TCA406495391FKRPc.470C>T (p.Ala157Val)
c.41C>T (p.Ala14Val)
n.247-5913C>T
n.247+7255C>T
 gnomAD v4
19g.46755921C>ACA507975407FKRPc.471C>A (p.Ala157=)
c.42C>A (p.Ala14=)
n.247-5912C>A
n.247+7256C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755921C=CA2339067320FKRPc.471C= (p.Ala157=)
c.42C= (p.Ala14=)
n.247-5912C=
n.247+7256C=
19g.46755921C>GCA507975408FKRPc.471C>G (p.Ala157=)
c.42C>G (p.Ala14=)
n.247-5912C>G
n.247+7256C>G
19g.46755921C>TCA507975409FKRPc.471C>T (p.Ala157=)
c.42C>T (p.Ala14=)
n.247-5912C>T
n.247+7256C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755922G>ACA406495392FKRPc.472G>A (p.Ala158Thr)
c.43G>A (p.Ala15Thr)
n.247-5911G>A
n.247+7257G>A
 ClinVar dbSNP gnomAD v4
19g.46755922G>CCA406495393FKRPc.472G>C (p.Ala158Pro)
c.43G>C (p.Ala15Pro)
n.247-5911G>C
n.247+7257G>C
19g.46755922G=CA2339067321FKRPc.472G= (p.Ala158=)
c.43G= (p.Ala15=)
n.247-5911G=
n.247+7257G=
19g.46755922G>TCA406495394FKRPc.472G>T (p.Ala158Ser)
c.43G>T (p.Ala15Ser)
n.247-5911G>T
n.247+7257G>T
 gnomAD v4
19g.46755923C>ACA406495395FKRPc.473C>A (p.Ala158Asp)
c.44C>A (p.Ala15Asp)
n.247-5910C>A
n.247+7258C>A
 gnomAD v4
19g.46755923C=CA2339067323FKRPc.473C= (p.Ala158=)
c.44C= (p.Ala15=)
n.247-5910C=
n.247+7258C=
19g.46755923C>GCA406495396FKRPc.473C>G (p.Ala158Gly)
c.44C>G (p.Ala15Gly)
n.247-5910C>G
n.247+7258C>G
19g.46755923C>TCA406495397FKRPc.473C>T (p.Ala158Val)
c.44C>T (p.Ala15Val)
n.247-5910C>T
n.247+7258C>T
 dbSNP gnomAD v3 gnomAD v4
19g.46755926delCA2585987466FKRPc.476del (p.Pro159ArgfsTer13)
c.47del (p.Pro16ArgfsTer13)
n.247-5907del
n.247+7261del
c.476del (p.Pro159ArgfsTer?)
 gnomAD v4
19g.46755924C>ACA507975417FKRPc.474C>A (p.Ala158=)
c.45C>A (p.Ala15=)
n.247-5909C>A
n.247+7259C>A
 ClinVar gnomAD v4
19g.46755924C=CA2339067325FKRPc.474C= (p.Ala158=)
c.45C= (p.Ala15=)
n.247-5909C=
n.247+7259C=
19g.46755924C>GCA309099303FKRPc.474C>G (p.Ala158=)
c.45C>G (p.Ala15=)
n.247-5909C>G
n.247+7259C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755924C>TCA507975416FKRPc.474C>T (p.Ala158=)
c.45C>T (p.Ala15=)
n.247-5909C>T
n.247+7259C>T
 dbSNP gnomAD v4
19g.46755925C>ACA406495398FKRPc.475C>A (p.Pro159Thr)
c.46C>A (p.Pro16Thr)
n.247-5908C>A
n.247+7260C>A
 dbSNP gnomAD v4
19g.46755925C=CA2339067327FKRPc.475C= (p.Pro159=)
c.46C= (p.Pro16=)
n.247-5908C=
n.247+7260C=
19g.46755925C>GCA309099305FKRPc.475C>G (p.Pro159Ala)
c.46C>G (p.Pro16Ala)
n.247-5908C>G
n.247+7260C>G
 dbSNP
19g.46755925C>TCA406495399FKRPc.475C>T (p.Pro159Ser)
c.46C>T (p.Pro16Ser)
n.247-5908C>T
n.247+7260C>T
19g.46755926C>ACA406495400FKRPc.476C>A (p.Pro159Gln)
c.47C>A (p.Pro16Gln)
n.247-5907C>A
n.247+7261C>A
 gnomAD v4
19g.46755926C=CA2339067329FKRPc.476C= (p.Pro159=)
c.47C= (p.Pro16=)
n.247-5907C=
n.247+7261C=
19g.46755926C>GCA406495402FKRPc.476C>G (p.Pro159Arg)
c.47C>G (p.Pro16Arg)
n.247-5907C>G
n.247+7261C>G
 dbSNP gnomAD v2 gnomAD v4
19g.46755926C>TCA406495401FKRPc.476C>T (p.Pro159Leu)
c.47C>T (p.Pro16Leu)
n.247-5907C>T
n.247+7261C>T
 gnomAD v4
19g.46755927G>ACA507975424FKRPc.477G>A (p.Pro159=)
c.48G>A (p.Pro16=)
n.247-5906G>A
n.247+7262G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.46755927G>CCA507975426FKRPc.477G>C (p.Pro159=)
c.48G>C (p.Pro16=)
n.247-5906G>C
n.247+7262G>C
 ClinVar
19g.46755927G=CA2339067332FKRPc.477G= (p.Pro159=)
c.48G= (p.Pro16=)
n.247-5906G=
n.247+7262G=
19g.46755927G>TCA507975427FKRPc.477G>T (p.Pro159=)
c.48G>T (p.Pro16=)
n.247-5906G>T
n.247+7262G>T
 gnomAD v4
19g.46755928G>ACA406495403FKRPc.478G>A (p.Val160Ile)
c.49G>A (p.Val17Ile)
n.247-5905G>A
n.247+7263G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755928G>CCA406495404FKRPc.478G>C (p.Val160Leu)
c.49G>C (p.Val17Leu)
n.247-5905G>C
n.247+7263G>C
 ClinVar dbSNP gnomAD v4
19g.46755928G=CA2339067335FKRPc.478G= (p.Val160=)
c.49G= (p.Val17=)
n.247-5905G=
n.247+7263G=
19g.46755928G>TCA406495405FKRPc.478G>T (p.Val160Phe)
c.49G>T (p.Val17Phe)
n.247-5905G>T
n.247+7263G>T
 ClinVar dbSNP gnomAD v4
19g.46755929T>ACA406495406FKRPc.479T>A (p.Val160Asp)
c.50T>A (p.Val17Asp)
n.247-5904T>A
n.247+7264T>A
19g.46755929T>CCA406495407FKRPc.479T>C (p.Val160Ala)
c.50T>C (p.Val17Ala)
n.247-5904T>C
n.247+7264T>C
19g.46755929T>GCA406495408FKRPc.479T>G (p.Val160Gly)
c.50T>G (p.Val17Gly)
n.247-5904T>G
n.247+7264T>G
19g.46755930T>ACA507975430FKRPc.480T>A (p.Val160=)
c.51T>A (p.Val17=)
n.247-5903T>A
n.247+7265T>A
19g.46755930T>CCA507975431FKRPc.480T>C (p.Val160=)
c.51T>C (p.Val17=)
n.247-5903T>C
n.247+7265T>C
 gnomAD v4
19g.46755930T>GCA507975432FKRPc.480T>G (p.Val160=)
c.51T>G (p.Val17=)
n.247-5903T>G
n.247+7265T>G
19g.46755931G>ACA406495409FKRPc.481G>A (p.Ala161Thr)
c.52G>A (p.Ala18Thr)
n.247-5902G>A
n.247+7266G>A
 ClinVar gnomAD v4
19g.46755931G>CCA406495410FKRPc.481G>C (p.Ala161Pro)
c.52G>C (p.Ala18Pro)
n.247-5902G>C
n.247+7266G>C
19g.46755931G>TCA406495411FKRPc.481G>T (p.Ala161Ser)
c.52G>T (p.Ala18Ser)
n.247-5902G>T
n.247+7266G>T
 gnomAD v4
19g.46755932C>ACA406495412FKRPc.482C>A (p.Ala161Asp)
c.53C>A (p.Ala18Asp)
n.247-5901C>A
n.247+7267C>A
 gnomAD v4
19g.46755932C=CA2339067338FKRPc.482C= (p.Ala161=)
c.53C= (p.Ala18=)
n.247-5901C=
n.247+7267C=
19g.46755932C>GCA406495413FKRPc.482C>G (p.Ala161Gly)
c.53C>G (p.Ala18Gly)
n.247-5901C>G
n.247+7267C>G
19g.46755932C>TCA406495414FKRPc.482C>T (p.Ala161Val)
c.53C>T (p.Ala18Val)
n.247-5901C>T
n.247+7267C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755933C>ACA507975439FKRPc.483C>A (p.Ala161=)
c.54C>A (p.Ala18=)
n.247-5900C>A
n.247+7268C>A
 gnomAD v4
19g.46755933C=CA2339067340FKRPc.483C= (p.Ala161=)
c.54C= (p.Ala18=)
n.247-5900C=
n.247+7268C=
19g.46755933C>GCA507975440FKRPc.483C>G (p.Ala161=)
c.54C>G (p.Ala18=)
n.247-5900C>G
n.247+7268C>G
19g.46755933C>TCA206471FKRPc.483C>T (p.Ala161=)
c.54C>T (p.Ala18=)
n.247-5900C>T
n.247+7268C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755934A>CCA406495415FKRPc.484A>C (p.Thr162Pro)
c.55A>C (p.Thr19Pro)
n.247-5899A>C
n.247+7269A>C
19g.46755934A>GCA406495417FKRPc.484A>G (p.Thr162Ala)
c.55A>G (p.Thr19Ala)
n.247-5899A>G
n.247+7269A>G
 ClinVar
19g.46755934A>TCA406495416FKRPc.484A>T (p.Thr162Ser)
c.55A>T (p.Thr19Ser)
n.247-5899A>T
n.247+7269A>T
19g.46755935C>ACA406495418FKRPc.485C>A (p.Thr162Lys)
c.56C>A (p.Thr19Lys)
n.247-5898C>A
n.247+7270C>A
 gnomAD v4
19g.46755935C=CA2339067341FKRPc.485C= (p.Thr162=)
c.56C= (p.Thr19=)
n.247-5898C=
n.247+7270C=
19g.46755935C>GCA406495419FKRPc.485C>G (p.Thr162Arg)
c.56C>G (p.Thr19Arg)
n.247-5898C>G
n.247+7270C>G
 gnomAD v4
19g.46755935C>TCA406495420FKRPc.485C>T (p.Thr162Met)
c.56C>T (p.Thr19Met)
n.247-5898C>T
n.247+7270C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755936G>ACA9532155FKRPc.486G>A (p.Thr162=)
c.57G>A (p.Thr19=)
n.247-5897G>A
n.247+7271G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755936G>CCA507975449FKRPc.486G>C (p.Thr162=)
c.57G>C (p.Thr19=)
n.247-5897G>C
n.247+7271G>C
19g.46755936G=CA2339067343FKRPc.486G= (p.Thr162=)
c.57G= (p.Thr19=)
n.247-5897G=
n.247+7271G=
19g.46755936G>TCA507975450FKRPc.486G>T (p.Thr162=)
c.57G>T (p.Thr19=)
n.247-5897G>T
n.247+7271G>T
 gnomAD v4
19g.46755937G>ACA309099311FKRPc.487G>A (p.Ala163Thr)
c.58G>A (p.Ala20Thr)
n.247-5896G>A
n.247+7272G>A
c.487G>A
 ClinVar dbSNP gnomAD v4
19g.46755937G>CCA406495421FKRPc.487G>C (p.Ala163Pro)
c.58G>C (p.Ala20Pro)
n.247-5896G>C
n.247+7272G>C
c.487G>C
19g.46755937G=CA2339067345FKRPc.487G= (p.Ala163=)
c.58G= (p.Ala20=)
n.247-5896G=
n.247+7272G=
c.487G=
19g.46755937G>TCA406495422FKRPc.487G>T (p.Ala163Ser)
c.58G>T (p.Ala20Ser)
n.247-5896G>T
n.247+7272G>T
c.487G>T
 gnomAD v4
19g.46755938C>ACA406495423FKRPc.488C>A (p.Ala163Asp)
c.59C>A (p.Ala20Asp)
n.247-5895C>A
n.247+7273C>A
 gnomAD v4
19g.46755938C>GCA406495424FKRPc.488C>G (p.Ala163Gly)
c.59C>G (p.Ala20Gly)
n.247-5895C>G
n.247+7273C>G
 ClinVar dbSNP
19g.46755938C>TCA406495425FKRPc.488C>T (p.Ala163Val)
c.59C>T (p.Ala20Val)
n.247-5895C>T
n.247+7273C>T
 gnomAD v4
19g.46755939C>ACA507975454FKRPc.489C>A (p.Ala163=)
c.60C>A (p.Ala20=)
n.247-5894C>A
n.247+7274C>A
 dbSNP gnomAD v4
19g.46755939C=CA2339067346FKRPc.489C= (p.Ala163=)
c.60C= (p.Ala20=)
n.247-5894C=
n.247+7274C=
19g.46755939C>GCA507975455FKRPc.489C>G (p.Ala163=)
c.60C>G (p.Ala20=)
n.247-5894C>G
n.247+7274C>G
19g.46755939C>TCA507975456FKRPc.489C>T (p.Ala163=)
c.60C>T (p.Ala20=)
n.247-5894C>T
n.247+7274C>T
 gnomAD v4
19g.46755940A>CCA406495426FKRPc.490A>C (p.Asn164His)
c.61A>C (p.Asn21His)
n.247-5893A>C
n.247+7275A>C
19g.46755940A>GCA406495428FKRPc.490A>G (p.Asn164Asp)
c.61A>G (p.Asn21Asp)
n.247-5893A>G
n.247+7275A>G
 gnomAD v4
19g.46755940A>TCA406495427FKRPc.490A>T (p.Asn164Tyr)
c.61A>T (p.Asn21Tyr)
n.247-5893A>T
n.247+7275A>T
19g.46755941A=CA2339067348FKRPc.491A= (p.Asn164=)
c.62A= (p.Asn21=)
n.247-5892A=
n.247+7276A=
19g.46755941A>CCA406495429FKRPc.491A>C (p.Asn164Thr)
c.62A>C (p.Asn21Thr)
n.247-5892A>C
n.247+7276A>C
19g.46755941A>GCA309099314FKRPc.491A>G (p.Asn164Ser)
c.62A>G (p.Asn21Ser)
n.247-5892A>G
n.247+7276A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755941A>TCA406495430FKRPc.491A>T (p.Asn164Ile)
c.62A>T (p.Asn21Ile)
n.247-5892A>T
n.247+7276A>T
 COSMIC
19g.46755942C>ACA406495431FKRPc.492C>A (p.Asn164Lys)
c.63C>A (p.Asn21Lys)
n.247-5891C>A
n.247+7277C>A
 gnomAD v4
19g.46755942C>GCA406495432FKRPc.492C>G (p.Asn164Lys)
c.63C>G (p.Asn21Lys)
n.247-5891C>G
n.247+7277C>G
19g.46755942C>TCA507975466FKRPc.492C>T (p.Asn164=)
c.63C>T (p.Asn21=)
n.247-5891C>T
n.247+7277C>T
19g.46755943C>ACA406495433FKRPc.493C>A (p.Pro165Thr)
c.64C>A (p.Pro22Thr)
n.247-5890C>A
n.247+7278C>A
 gnomAD v4
19g.46755943C=CA2339067351FKRPc.493C= (p.Pro165=)
c.64C= (p.Pro22=)
n.247-5890C=
n.247+7278C=
19g.46755943C>GCA406495434FKRPc.493C>G (p.Pro165Ala)
c.64C>G (p.Pro22Ala)
n.247-5890C>G
n.247+7278C>G
19g.46755943C>TCA309099316FKRPc.493C>T (p.Pro165Ser)
c.64C>T (p.Pro22Ser)
n.247-5890C>T
n.247+7278C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.46755944C>ACA406495435FKRPc.494C>A (p.Pro165His)
c.65C>A (p.Pro22His)
n.247-5889C>A
n.247+7279C>A
 dbSNP gnomAD v3 gnomAD v4
19g.46755944C=CA2339067353FKRPc.494C= (p.Pro165=)
c.65C= (p.Pro22=)
n.247-5889C=
n.247+7279C=
19g.46755944C>GCA406495436FKRPc.494C>G (p.Pro165Arg)
c.65C>G (p.Pro22Arg)
n.247-5889C>G
n.247+7279C>G
19g.46755944C>TCA406495437FKRPc.494C>T (p.Pro165Leu)
c.65C>T (p.Pro22Leu)
n.247-5889C>T
n.247+7279C>T
 gnomAD v4
19g.46755945T>ACA507975473FKRPc.495T>A (p.Pro165=)
c.66T>A (p.Pro22=)
n.247-5888T>A
n.247+7280T>A
19g.46755945T>CCA507975475FKRPc.495T>C (p.Pro165=)
c.66T>C (p.Pro22=)
n.247-5888T>C
n.247+7280T>C
19g.46755945T>GCA507975474FKRPc.495T>G (p.Pro165=)
c.66T>G (p.Pro22=)
n.247-5888T>G
n.247+7280T>G
19g.46755946G>ACA406495440FKRPc.496G>A (p.Ala166Thr)
c.67G>A (p.Ala23Thr)
n.247-5887G>A
n.247+7281G>A
 dbSNP gnomAD v2 gnomAD v4
19g.46755946G>CCA406495439FKRPc.496G>C (p.Ala166Pro)
c.67G>C (p.Ala23Pro)
n.247-5887G>C
n.247+7281G>C
 gnomAD v4
19g.46755946G=CA2339067355FKRPc.496G= (p.Ala166=)
c.67G= (p.Ala23=)
n.247-5887G=
n.247+7281G=
19g.46755946G>TCA406495438FKRPc.496G>T (p.Ala166Ser)
c.67G>T (p.Ala23Ser)
n.247-5887G>T
n.247+7281G>T
 gnomAD v4
19g.46755947C>ACA406495441FKRPc.497C>A (p.Ala166Asp)
c.68C>A (p.Ala23Asp)
n.247-5886C>A
n.247+7282C>A
 gnomAD v4
19g.46755947C=CA2339067357FKRPc.497C= (p.Ala166=)
c.68C= (p.Ala23=)
n.247-5886C=
n.247+7282C=
19g.46755947C>GCA406495442FKRPc.497C>G (p.Ala166Gly)
c.68C>G (p.Ala23Gly)
n.247-5886C>G
n.247+7282C>G
 ClinVar
19g.46755947C>TCA406495443FKRPc.497C>T (p.Ala166Val)
c.68C>T (p.Ala23Val)
n.247-5886C>T
n.247+7282C>T
 dbSNP gnomAD v2 gnomAD v4
19g.46755948delCA2585987467FKRPc.498del (p.Arg167GlyfsTer5)
c.69del (p.Arg24GlyfsTer5)
n.247-5885del
n.247+7283del
 gnomAD v4
19g.46755948C>ACA507975479FKRPc.498C>A (p.Ala166=)
c.69C>A (p.Ala23=)
n.247-5885C>A
n.247+7283C>A
 gnomAD v4
19g.46755948C=CA2339067359FKRPc.498C= (p.Ala166=)
c.69C= (p.Ala23=)
n.247-5885C=
n.247+7283C=
19g.46755948C>GCA507975480FKRPc.498C>G (p.Ala166=)
c.69C>G (p.Ala23=)
n.247-5885C>G
n.247+7283C>G
19g.46755948C>TCA9532156FKRPc.498C>T (p.Ala166=)
c.69C>T (p.Ala23=)
n.247-5885C>T
n.247+7283C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.46755949A>CCA507975483FKRPc.499A>C (p.Arg167=)
c.70A>C (p.Arg24=)
n.247-5884A>C
n.247+7284A>C
19g.46755949A>GCA406495444FKRPc.499A>G (p.Arg167Gly)
c.70A>G (p.Arg24Gly)
n.247-5884A>G
n.247+7284A>G
19g.46755949A>TCA406495445FKRPc.499A>T (p.Arg167Trp)
c.70A>T (p.Arg24Trp)
n.247-5884A>T
n.247+7284A>T
19g.46755950G>ACA406495446FKRPc.500G>A (p.Arg167Lys)
c.71G>A (p.Arg24Lys)
n.247-5883G>A
n.247+7285G>A
19g.46755950G>CCA406495448FKRPc.500G>C (p.Arg167Thr)
c.71G>C (p.Arg24Thr)
n.247-5883G>C
n.247+7285G>C
19g.46755950G>TCA406495447FKRPc.500G>T (p.Arg167Met)
c.71G>T (p.Arg24Met)
n.247-5883G>T
n.247+7285G>T
 gnomAD v4
19g.46755951G>ACA507975486FKRPc.501G>A (p.Arg167=)
c.72G>A (p.Arg24=)
n.247-5882G>A
n.247+7286G>A
 ClinVar dbSNP gnomAD v4
19g.46755951G>CCA406495449FKRPc.501G>C (p.Arg167Ser)
c.72G>C (p.Arg24Ser)
n.247-5882G>C
n.247+7286G>C
 dbSNP gnomAD v4
19g.46755951G=CA2339067361FKRPc.501G= (p.Arg167=)
c.72G= (p.Arg24=)
n.247-5882G=
n.247+7286G=
19g.46755951G>TCA406495450FKRPc.501G>T (p.Arg167Ser)
c.72G>T (p.Arg24Ser)
n.247-5882G>T
n.247+7286G>T
19g.46755951_46755952delinsCCCA2573156475FKRPc.501_502delinsCC (p.Arg167_Cys168delinsSerArg)
c.72_73delinsCC (p.Arg24_Cys25delinsSerArg)
n.247-5882_247-5881delinsCC
n.247+7286_247+7287delinsCC
 ClinVar dbSNP
19g.46755952T>ACA406495451FKRPc.502T>A (p.Cys168Ser)
c.73T>A (p.Cys25Ser)
n.247-5881T>A
n.247+7287T>A
19g.46755952T>CCA406495452FKRPc.502T>C (p.Cys168Arg)
c.73T>C (p.Cys25Arg)
n.247-5881T>C
n.247+7287T>C
 ClinVar dbSNP gnomAD v4
19g.46755952T>GCA406495453FKRPc.502T>G (p.Cys168Gly)
c.73T>G (p.Cys25Gly)
n.247-5881T>G
n.247+7287T>G
19g.46755952T=CA2339067364FKRPc.502T= (p.Cys168=)
c.73T= (p.Cys25=)
n.247-5881T=
n.247+7287T=
19g.46755953G>ACA406495454FKRPc.503G>A (p.Cys168Tyr)
c.74G>A (p.Cys25Tyr)
n.247-5880G>A
n.247+7288G>A
 ClinVar dbSNP gnomAD v4
19g.46755953G>CCA406495455FKRPc.503G>C (p.Cys168Ser)
c.74G>C (p.Cys25Ser)
n.247-5880G>C
n.247+7288G>C
19g.46755953G=CA2339067365FKRPc.503G= (p.Cys168=)
c.74G= (p.Cys25=)
n.247-5880G=
n.247+7288G=
19g.46755953G>TCA309099318FKRPc.503G>T (p.Cys168Phe)
c.74G>T (p.Cys25Phe)
n.247-5880G>T
n.247+7288G>T
 dbSNP gnomAD v3 gnomAD v4
19g.46755954C>ACA406495456FKRPc.504C>A (p.Cys168Ter)
c.75C>A (p.Cys25Ter)
n.247-5879C>A
n.247+7289C>A
 gnomAD v4
19g.46755954C>GCA406495457FKRPc.504C>G (p.Cys168Trp)
c.75C>G (p.Cys25Trp)
n.247-5879C>G
n.247+7289C>G
19g.46755954C>TCA507975493FKRPc.504C>T (p.Cys168=)
c.75C>T (p.Cys25=)
n.247-5879C>T
n.247+7289C>T
 gnomAD v4
19g.46755955C>ACA406495458FKRPc.505C>A (p.Leu169Met)
c.76C>A (p.Leu26Met)
n.247-5878C>A
n.247+7290C>A
 gnomAD v4
19g.46755955C>GCA406495459FKRPc.505C>G (p.Leu169Val)
c.76C>G (p.Leu26Val)
n.247-5878C>G
n.247+7290C>G
19g.46755955C>TCA507975496FKRPc.505C>T (p.Leu169=)
c.76C>T (p.Leu26=)
n.247-5878C>T
n.247+7290C>T
19g.46755956T>ACA406495462FKRPc.506T>A (p.Leu169Gln)
c.77T>A (p.Leu26Gln)
n.247-5877T>A
n.247+7291T>A
19g.46755956T>CCA406495460FKRPc.506T>C (p.Leu169Pro)
c.77T>C (p.Leu26Pro)
n.247-5877T>C
n.247+7291T>C
 gnomAD v4
19g.46755956T>GCA406495461FKRPc.506T>G (p.Leu169Arg)
c.77T>G (p.Leu26Arg)
n.247-5877T>G
n.247+7291T>G
 gnomAD v4
19g.46755957G>ACA507975498FKRPc.507G>A (p.Leu169=)
c.78G>A (p.Leu26=)
n.247-5876G>A
n.247+7292G>A
19g.46755957G>CCA507975500FKRPc.507G>C (p.Leu169=)
c.78G>C (p.Leu26=)
n.247-5876G>C
n.247+7292G>C
19g.46755957G>TCA507975499FKRPc.507G>T (p.Leu169=)
c.78G>T (p.Leu26=)
n.247-5876G>T
n.247+7292G>T
 gnomAD v4
19g.46755957_46755970delinsGGCCCTGAACGTCACA2339067366FKRPc.507_520delinsGGCCCTGAACGTCA (p.Leu169=)
c.78_91delinsGGCCCTGAACGTCA (p.Leu26=)
n.247-5876_247-5863delinsGGCCCTGAACGTCA
n.247+7292_247+7305delinsGGCCCTGAACGTCA
19g.46755958G>ACA406495463FKRPc.508G>A (p.Ala170Thr)
c.79G>A (p.Ala27Thr)
n.247-5875G>A
n.247+7293G>A
19g.46755958G>CCA406495464FKRPc.508G>C (p.Ala170Pro)
c.79G>C (p.Ala27Pro)
n.247-5875G>C
n.247+7293G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755958G=CA2339067367FKRPc.508G= (p.Ala170=)
c.79G= (p.Ala27=)
n.247-5875G=
n.247+7293G=
19g.46755958G>TCA406495465FKRPc.508G>T (p.Ala170Ser)
c.79G>T (p.Ala27Ser)
n.247-5875G>T
n.247+7293G>T
 gnomAD v4
19g.46755961_46755973delCA882849400FKRPc.511_523del (p.Leu171CysfsTer?)
c.82_94del (p.Leu28CysfsTer?)
n.247-5872_247-5860del
n.247+7296_247+7308del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.46755959C>ACA406495466FKRPc.509C>A (p.Ala170Asp)
c.80C>A (p.Ala27Asp)
n.247-5874C>A
n.247+7294C>A
 dbSNP gnomAD v2 gnomAD v4
19g.46755959C=CA2339067369FKRPc.509C= (p.Ala170=)
c.80C= (p.Ala27=)
n.247-5874C=
n.247+7294C=
19g.46755959C>GCA406495467FKRPc.509C>G (p.Ala170Gly)
c.80C>G (p.Ala27Gly)
n.247-5874C>G
n.247+7294C>G
19g.46755959C>TCA406495468FKRPc.509C>T (p.Ala170Val)
c.80C>T (p.Ala27Val)
n.247-5874C>T
n.247+7294C>T
19g.46755960C>ACA507975506FKRPc.510C>A (p.Ala170=)
c.81C>A (p.Ala27=)
n.247-5873C>A
n.247+7295C>A
19g.46755960C=CA2339067371FKRPc.510C= (p.Ala170=)
c.81C= (p.Ala27=)
n.247-5873C=
n.247+7295C=
19g.46755960C>GCA309099321FKRPc.510C>G (p.Ala170=)
c.81C>G (p.Ala27=)
n.247-5873C>G
n.247+7295C>G
 dbSNP
19g.46755960C>TCA507975507FKRPc.510C>T (p.Ala170=)
c.81C>T (p.Ala27=)
n.247-5873C>T
n.247+7295C>T
19g.46755961C>ACA406495469FKRPc.511C>A (p.Leu171Met)
c.82C>A (p.Leu28Met)
n.247-5872C>A
n.247+7296C>A
 gnomAD v4
19g.46755961C=CA2339067373FKRPc.511C= (p.Leu171=)
c.82C= (p.Leu28=)
n.247-5872C=
n.247+7296C=
19g.46755961C>GCA9532157FKRPc.511C>G (p.Leu171Val)
c.82C>G (p.Leu28Val)
n.247-5872C>G
n.247+7296C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.46755961C>TCA507975509FKRPc.511C>T (p.Leu171=)
c.82C>T (p.Leu28=)
n.247-5872C>T
n.247+7296C>T
 ClinVar dbSNP
19g.46755962T>ACA406495470FKRPc.512T>A (p.Leu171Gln)
c.83T>A (p.Leu28Gln)
n.247-5871T>A
n.247+7297T>A
 gnomAD v4
19g.46755962T>CCA406495471FKRPc.512T>C (p.Leu171Pro)
c.83T>C (p.Leu28Pro)
n.247-5871T>C
n.247+7297T>C
 gnomAD v4
19g.46755962T>GCA406495472FKRPc.512T>G (p.Leu171Arg)
c.83T>G (p.Leu28Arg)
n.247-5871T>G
n.247+7297T>G
19g.46755963G>ACA309099325FKRPc.513G>A (p.Leu171=)
c.84G>A (p.Leu28=)
n.247-5870G>A
n.247+7298G>A
 dbSNP gnomAD v4
19g.46755963G>CCA507975513FKRPc.513G>C (p.Leu171=)
c.84G>C (p.Leu28=)
n.247-5870G>C
n.247+7298G>C
19g.46755963G=CA2339067376FKRPc.513G= (p.Leu171=)
c.84G= (p.Leu28=)
n.247-5870G=
n.247+7298G=
19g.46755963G>TCA507975514FKRPc.513G>T (p.Leu171=)
c.84G>T (p.Leu28=)
n.247-5870G>T
n.247+7298G>T
 gnomAD v4
19g.46755964A>CCA406495473FKRPc.514A>C (p.Asn172His)
c.85A>C (p.Asn29His)
n.247-5869A>C
n.247+7299A>C
19g.46755964A>GCA406495474FKRPc.514A>G (p.Asn172Asp)
c.85A>G (p.Asn29Asp)
n.247-5869A>G
n.247+7299A>G
19g.46755964A>TCA406495475FKRPc.514A>T (p.Asn172Tyr)
c.85A>T (p.Asn29Tyr)
n.247-5869A>T
n.247+7299A>T
19g.46755965dupCA2499225522FKRPc.515dup (p.Asn172LysfsTer?)
c.86dup (p.Asn29LysfsTer?)
n.247-5868dup
n.247+7300dup
 ClinVar dbSNP
19g.46755965A>CCA406495476FKRPc.515A>C (p.Asn172Thr)
c.86A>C (p.Asn29Thr)
n.247-5868A>C
n.247+7300A>C
19g.46755965A>GCA406495478FKRPc.515A>G (p.Asn172Ser)
c.86A>G (p.Asn29Ser)
n.247-5868A>G
n.247+7300A>G
 gnomAD v4
19g.46755965A>TCA406495477FKRPc.515A>T (p.Asn172Ile)
c.86A>T (p.Asn29Ile)
n.247-5868A>T
n.247+7300A>T
19g.46755966C>ACA406495479FKRPc.516C>A (p.Asn172Lys)
c.87C>A (p.Asn29Lys)
n.247-5867C>A
n.247+7301C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755966C=CA2339067378FKRPc.516C= (p.Asn172=)
c.87C= (p.Asn29=)
n.247-5867C=
n.247+7301C=
19g.46755966C>GCA406495480FKRPc.516C>G (p.Asn172Lys)
c.87C>G (p.Asn29Lys)
n.247-5867C>G
n.247+7301C>G
19g.46755966C>TCA309099328FKRPc.516C>T (p.Asn172=)
c.87C>T (p.Asn29=)
n.247-5867C>T
n.247+7301C>T
 ClinVar dbSNP gnomAD v4
19g.46755967G>ACA406495481FKRPc.517G>A (p.Val173Ile)
c.88G>A (p.Val30Ile)
n.247-5866G>A
n.247+7302G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755967G>CCA406495482FKRPc.517G>C (p.Val173Leu)
c.88G>C (p.Val30Leu)
n.247-5866G>C
n.247+7302G>C
 dbSNP
19g.46755967G=CA2339067381FKRPc.517G= (p.Val173=)
c.88G= (p.Val30=)
n.247-5866G=
n.247+7302G=
19g.46755967G>TCA406495483FKRPc.517G>T (p.Val173Phe)
c.88G>T (p.Val30Phe)
n.247-5866G>T
n.247+7302G>T
 gnomAD v4
19g.46755968T>ACA406495484FKRPc.518T>A (p.Val173Asp)
c.89T>A (p.Val30Asp)
n.247-5865T>A
n.247+7303T>A
19g.46755968T>CCA406495485FKRPc.518T>C (p.Val173Ala)
c.89T>C (p.Val30Ala)
n.247-5865T>C
n.247+7303T>C
19g.46755968T>GCA406495486FKRPc.518T>G (p.Val173Gly)
c.89T>G (p.Val30Gly)
n.247-5865T>G
n.247+7303T>G
19g.46755969C>ACA507975525FKRPc.519C>A (p.Val173=)
c.90C>A (p.Val30=)
n.247-5864C>A
n.247+7304C>A
 gnomAD v4
19g.46755969C>GCA507975526FKRPc.519C>G (p.Val173=)
c.90C>G (p.Val30=)
n.247-5864C>G
n.247+7304C>G
19g.46755969C>TCA507975527FKRPc.519C>T (p.Val173=)
c.90C>T (p.Val30=)
n.247-5864C>T
n.247+7304C>T
 gnomAD v4
19g.46755970A=CA2339067383FKRPc.520A= (p.Ser174=)
c.91A= (p.Ser31=)
n.247-5863A=
n.247+7305A=
19g.46755970A>CCA406495487FKRPc.520A>C (p.Ser174Arg)
c.91A>C (p.Ser31Arg)
n.247-5863A>C
n.247+7305A>C
 gnomAD v4
19g.46755970A>GCA406495488FKRPc.520A>G (p.Ser174Gly)
c.91A>G (p.Ser31Gly)
n.247-5863A>G
n.247+7305A>G
 dbSNP gnomAD v3 gnomAD v4
19g.46755970A>TCA200251FKRPc.520A>T (p.Ser174Cys)
c.91A>T (p.Ser31Cys)
n.247-5863A>T
n.247+7305A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755971G>ACA406495489FKRPc.521G>A (p.Ser174Asn)
c.92G>A (p.Ser31Asn)
n.247-5862G>A
n.247+7306G>A
 dbSNP gnomAD v2 gnomAD v4
19g.46755971G>CCA406495491FKRPc.521G>C (p.Ser174Thr)
c.92G>C (p.Ser31Thr)
n.247-5862G>C
n.247+7306G>C
19g.46755971G=CA2339067385FKRPc.521G= (p.Ser174=)
c.92G= (p.Ser31=)
n.247-5862G=
n.247+7306G=
19g.46755971G>TCA406495490FKRPc.521G>T (p.Ser174Ile)
c.92G>T (p.Ser31Ile)
n.247-5862G>T
n.247+7306G>T
 gnomAD v4
19g.46755972C>ACA406495492FKRPc.522C>A (p.Ser174Arg)
c.93C>A (p.Ser31Arg)
n.247-5861C>A
n.247+7307C>A
 gnomAD v4
19g.46755972C=CA2339067388FKRPc.522C= (p.Ser174=)
c.93C= (p.Ser31=)
n.247-5861C=
n.247+7307C=
19g.46755972C>GCA406495493FKRPc.522C>G (p.Ser174Arg)
c.93C>G (p.Ser31Arg)
n.247-5861C>G
n.247+7307C>G
19g.46755972C>TCA507975531FKRPc.522C>T (p.Ser174=)
c.93C>T (p.Ser31=)
n.247-5861C>T
n.247+7307C>T
 ClinVar dbSNP gnomAD v4
19g.46755973C>ACA406495494FKRPc.523C>A (p.Leu175Met)
c.94C>A (p.Leu32Met)
n.247-5860C>A
n.247+7308C>A
 gnomAD v4
19g.46755973C=CA2339067390FKRPc.523C= (p.Leu175=)
c.94C= (p.Leu32=)
n.247-5860C=
n.247+7308C=
19g.46755973C>GCA406495495FKRPc.523C>G (p.Leu175Val)
c.94C>G (p.Leu32Val)
n.247-5860C>G
n.247+7308C>G
19g.46755973C>TCA507975533FKRPc.523C>T (p.Leu175=)
c.94C>T (p.Leu32=)
n.247-5860C>T
n.247+7308C>T
 dbSNP
19g.46755974T>ACA406495496FKRPc.524T>A (p.Leu175Gln)
c.95T>A (p.Leu32Gln)
n.247-5859T>A
n.247+7309T>A
19g.46755974T>CCA406495497FKRPc.524T>C (p.Leu175Pro)
c.95T>C (p.Leu32Pro)
n.247-5859T>C
n.247+7309T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755974T>GCA406495498FKRPc.524T>G (p.Leu175Arg)
c.95T>G (p.Leu32Arg)
n.247-5859T>G
n.247+7309T>G
19g.46755974T=CA2339067392FKRPc.524T= (p.Leu175=)
c.95T= (p.Leu32=)
n.247-5859T=
n.247+7309T=
19g.46755975G>ACA507975537FKRPc.525G>A (p.Leu175=)
c.96G>A (p.Leu32=)
n.247-5858G>A
n.247+7310G>A
 ClinVar dbSNP gnomAD v4
19g.46755975G>CCA507975539FKRPc.525G>C (p.Leu175=)
c.96G>C (p.Leu32=)
n.247-5858G>C
n.247+7310G>C
 dbSNP gnomAD v3 gnomAD v4
19g.46755975G=CA2339067394FKRPc.525G= (p.Leu175=)
c.96G= (p.Leu32=)
n.247-5858G=
n.247+7310G=
19g.46755975G>TCA507975542FKRPc.525G>T (p.Leu175=)
c.96G>T (p.Leu32=)
n.247-5858G>T
n.247+7310G>T
 ClinVar dbSNP gnomAD v4
19g.46755976C>ACA507975549FKRPc.526C>A (p.Arg176=)
c.97C>A (p.Arg33=)
n.247-5857C>A
n.247+7311C>A
 ClinVar dbSNP gnomAD v4
19g.46755976C=CA2339067396FKRPc.526C= (p.Arg176=)
c.97C= (p.Arg33=)
n.247-5857C=
n.247+7311C=
19g.46755976C>GCA406495499FKRPc.526C>G (p.Arg176Gly)
c.97C>G (p.Arg33Gly)
n.247-5857C>G
n.247+7311C>G
 ClinVar
19g.46755976C>TCA406495500FKRPc.526C>T (p.Arg176Ter)
c.97C>T (p.Arg33Ter)
n.247-5857C>T
n.247+7311C>T
 ClinVar dbSNP gnomAD v4
19g.46755977G>ACA9532158FKRPc.527G>A (p.Arg176Gln)
c.98G>A (p.Arg33Gln)
n.247-5856G>A
n.247+7312G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.46755977G>CCA406495501FKRPc.527G>C (p.Arg176Pro)
c.98G>C (p.Arg33Pro)
n.247-5856G>C
n.247+7312G>C
 gnomAD v4
19g.46755977G=CA2339067398FKRPc.527G= (p.Arg176=)
c.98G= (p.Arg33=)
n.247-5856G=
n.247+7312G=
19g.46755977G>TCA406495502FKRPc.527G>T (p.Arg176Leu)
c.98G>T (p.Arg33Leu)
n.247-5856G>T
n.247+7312G>T
 gnomAD v4
19g.46755978A>CCA507975558FKRPc.528A>C (p.Arg176=)
c.99A>C (p.Arg33=)
n.247-5855A>C
n.247+7313A>C
19g.46755978A>GCA507975565FKRPc.528A>G (p.Arg176=)
c.99A>G (p.Arg33=)
n.247-5855A>G
n.247+7313A>G
19g.46755978A>TCA507975566FKRPc.528A>T (p.Arg176=)
c.99A>T (p.Arg33=)
n.247-5855A>T
n.247+7313A>T
19g.46755978_46755996delCA2585987468FKRPc.528_546del (p.Glu177AlafsTer?)
n.247-5855_247-5837del
n.247+7313_247+7331del
 gnomAD v4
19g.46755979G>ACA295343FKRPc.529G>A (p.Glu177Lys)
c.100G>A (p.Glu34Lys)
n.247-5854G>A
n.247+7314G>A
 ClinVar dbSNP gnomAD v4
19g.46755979G>CCA406495504FKRPc.529G>C (p.Glu177Gln)
c.100G>C (p.Glu34Gln)
n.247-5854G>C
n.247+7314G>C
 dbSNP
19g.46755979G=CA2339067400FKRPc.529G= (p.Glu177=)
c.100G= (p.Glu34=)
n.247-5854G=
n.247+7314G=
19g.46755979G>TCA406495503FKRPc.529G>T (p.Glu177Ter)
c.100G>T (p.Glu34Ter)
n.247-5854G>T
n.247+7314G>T
19g.46755980A=CA2339067401FKRPc.530A= (p.Glu177=)
c.101A= (p.Glu34=)
n.247-5853A=
n.247+7315A=
19g.46755980A>CCA406495505FKRPc.530A>C (p.Glu177Ala)
c.101A>C (p.Glu34Ala)
n.247-5853A>C
n.247+7315A>C
19g.46755980A>GCA406495506FKRPc.530A>G (p.Glu177Gly)
c.101A>G (p.Glu34Gly)
n.247-5853A>G
n.247+7315A>G
 dbSNP
19g.46755980A>TCA406495507FKRPc.530A>T (p.Glu177Val)
c.101A>T (p.Glu34Val)
n.247-5853A>T
n.247+7315A>T
19g.46755981G>ACA9532159FKRPc.531G>A (p.Glu177=)
c.102G>A (p.Glu34=)
n.247-5852G>A
n.247+7316G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755981G>CCA406495508FKRPc.531G>C (p.Glu177Asp)
c.102G>C (p.Glu34Asp)
n.247-5852G>C
n.247+7316G>C
19g.46755981G=CA2339067403FKRPc.531G= (p.Glu177=)
c.102G= (p.Glu34=)
n.247-5852G=
n.247+7316G=
19g.46755981G>TCA406495509FKRPc.531G>T (p.Glu177Asp)
c.102G>T (p.Glu34Asp)
n.247-5852G>T
n.247+7316G>T
 gnomAD v4
19g.46755982T>ACA406495510FKRPc.532T>A (p.Trp178Arg)
c.103T>A (p.Trp35Arg)
n.247-5851T>A
n.247+7317T>A
19g.46755982T>CCA406495511FKRPc.532T>C (p.Trp178Arg)
c.103T>C (p.Trp35Arg)
n.247-5851T>C
n.247+7317T>C
19g.46755982T>GCA406495512FKRPc.532T>G (p.Trp178Gly)
c.103T>G (p.Trp35Gly)
n.247-5851T>G
n.247+7317T>G
 gnomAD v4
19g.46755983G>ACA9532160FKRPc.533G>A (p.Trp178Ter)
c.104G>A (p.Trp35Ter)
n.247-5850G>A
n.247+7318G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.46755983G>CCA406495513FKRPc.533G>C (p.Trp178Ser)
c.104G>C (p.Trp35Ser)
n.247-5850G>C
n.247+7318G>C
19g.46755983G=CA2339067405FKRPc.533G= (p.Trp178=)
c.104G= (p.Trp35=)
n.247-5850G=
n.247+7318G=
19g.46755983G>TCA406495514FKRPc.533G>T (p.Trp178Leu)
c.104G>T (p.Trp35Leu)
n.247-5850G>T
n.247+7318G>T
 gnomAD v4
19g.46755984delCA2576826104FKRPc.534del (p.Trp178Ter)
c.105del (p.Trp35=)
n.247-5849del
n.247+7319del
19g.46755984G>ACA406495516FKRPc.534G>A (p.Trp178Ter)
c.105G>A (p.Trp35Ter)
n.247-5849G>A
n.247+7319G>A
 dbSNP
19g.46755984G>CCA406495517FKRPc.534G>C (p.Trp178Cys)
c.105G>C (p.Trp35Cys)
n.247-5849G>C
n.247+7319G>C
 dbSNP
19g.46755984G=CA2339067407FKRPc.534G= (p.Trp178=)
c.105G= (p.Trp35=)
n.247-5849G=
n.247+7319G=
19g.46755984G>TCA406495515FKRPc.534G>T (p.Trp178Cys)
c.105G>T (p.Trp35Cys)
n.247-5849G>T
n.247+7319G>T
 gnomAD v4
19g.46755985A=CA2339067409FKRPc.535A= (p.Thr179=)
n.247-5848A=
n.247+7320A=
19g.46755985A>CCA406495518FKRPc.535A>C (p.Thr179Pro)
n.247-5848A>C
n.247+7320A>C
 dbSNP
19g.46755985A>GCA406495519FKRPc.535A>G (p.Thr179Ala)
n.247-5848A>G
n.247+7320A>G
 gnomAD v4
19g.46755985A>TCA406495520FKRPc.535A>T (p.Thr179Ser)
n.247-5848A>T
n.247+7320A>T
19g.46755986C>ACA406495521FKRPc.536C>A (p.Thr179Asn)
n.247-5847C>A
n.247+7321C>A
 ClinVar dbSNP gnomAD v4
19g.46755986C>GCA406495522FKRPc.536C>G (p.Thr179Ser)
n.247-5847C>G
n.247+7321C>G
19g.46755986C>TCA406495523FKRPc.536C>T (p.Thr179Ile)
n.247-5847C>T
n.247+7321C>T
19g.46755991_46756011delCA2585987469FKRPc.541_561del (p.Arg181_Ala187del)
n.247-5842_247-5822del
n.247+7326_247+7346del
 gnomAD v4
19g.46755990_46756020dupCA633484279FKRPc.540_570dup (p.Cys191ProfsTer?)
n.247-5843_247-5813dup
n.247+7325_247+7355dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.46755987C>ACA507975599FKRPc.537C>A (p.Thr179=)
n.247-5846C>A
n.247+7322C>A
 gnomAD v4
19g.46755987C=CA2339067411FKRPc.537C= (p.Thr179=)
n.247-5846C=
n.247+7322C=
19g.46755987C>GCA9532161FKRPc.537C>G (p.Thr179=)
n.247-5846C>G
n.247+7322C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755987C>TCA507975601FKRPc.537C>T (p.Thr179=)
n.247-5846C>T
n.247+7322C>T
 ClinVar dbSNP gnomAD v4
19g.46755992_46756017delCA2580097437FKRPc.542_567del (p.Arg181ProfsTer?)
n.247-5841_247-5816del
n.247+7327_247+7352del
 ClinVar
19g.46755988G>ACA406495524FKRPc.538G>A (p.Ala180Thr)
n.247-5845G>A
n.247+7323G>A
 gnomAD v4
19g.46755988G>CCA406495525FKRPc.538G>C (p.Ala180Pro)
n.247-5845G>C
n.247+7323G>C
19g.46755988G>TCA406495526FKRPc.538G>T (p.Ala180Ser)
n.247-5845G>T
n.247+7323G>T
 ClinVar gnomAD v4
19g.46755989C>ACA406495527FKRPc.539C>A (p.Ala180Asp)
n.247-5844C>A
n.247+7324C>A
 ClinVar dbSNP
19g.46755989C=CA2339067412FKRPc.539C= (p.Ala180=)
n.247-5844C=
n.247+7324C=
19g.46755989C>GCA406495528FKRPc.539C>G (p.Ala180Gly)
n.247-5844C>G
n.247+7324C>G
19g.46755989C>TCA406495529FKRPc.539C>T (p.Ala180Val)
n.247-5844C>T
n.247+7324C>T
19g.46755990C>ACA507975612FKRPc.540C>A (p.Ala180=)
n.247-5843C>A
n.247+7325C>A
 gnomAD v4
19g.46755990C=CA2339067415FKRPc.540C= (p.Ala180=)
n.247-5843C=
n.247+7325C=
19g.46755990C>GCA507975614FKRPc.540C>G (p.Ala180=)
n.247-5843C>G
n.247+7325C>G
19g.46755990C>TCA507975615FKRPc.540C>T (p.Ala180=)
n.247-5843C>T
n.247+7325C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755990_46755991delinsCCCA2339067416FKRPc.540_541delinsCC (p.Ala180=)
n.247-5843_247-5842delinsCC
n.247+7325_247+7326delinsCC
19g.46755990_46755991delinsTACA891844242FKRPc.540_541delinsTA (p.Arg181Ser)
n.247-5843_247-5842delinsTA
n.247+7325_247+7326delinsTA
 ClinVar dbSNP
19g.46755991C>ACA9532162FKRPc.541C>A (p.Arg181Ser)
n.247-5842C>A
n.247+7326C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755991C=CA2339067420FKRPc.541C= (p.Arg181=)
n.247-5842C=
n.247+7326C=
19g.46755991C>GCA406495530FKRPc.541C>G (p.Arg181Gly)
n.247-5842C>G
n.247+7326C>G
 dbSNP gnomAD v3 gnomAD v4
19g.46755991C>TCA309099342FKRPc.541C>T (p.Arg181Cys)
n.247-5842C>T
n.247+7326C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.46755992G>ACA406495531FKRPc.542G>A (p.Arg181His)
n.247-5841G>A
n.247+7327G>A
 gnomAD v4 COSMIC
19g.46755992G>CCA406495532FKRPc.542G>C (p.Arg181Pro)
n.247-5841G>C
n.247+7327G>C
19g.46755992G>TCA406495533FKRPc.542G>T (p.Arg181Leu)
n.247-5841G>T
n.247+7327G>T
 gnomAD v4
19g.46755993_46755997delCA2576826105FKRPc.543_547del (p.Tyr182ArgfsTer?)
n.247-5840_247-5836del
n.247+7328_247+7332del
19g.46755993C>ACA507975622FKRPc.543C>A (p.Arg181=)
n.247-5840C>A
n.247+7328C>A
19g.46755993C>GCA507975623FKRPc.543C>G (p.Arg181=)
n.247-5840C>G
n.247+7328C>G
19g.46755993C>TCA507975624FKRPc.543C>T (p.Arg181=)
n.247-5840C>T
n.247+7328C>T
 gnomAD v4
19g.46755994delCA2695201350FKRPc.544del (p.Tyr182MetfsTer?)
n.247-5839del
n.247+7329del
 ClinVar
19g.46755994T>ACA406495534FKRPc.544T>A (p.Tyr182Asn)
n.247-5839T>A
n.247+7329T>A
19g.46755994T>CCA9532163FKRPc.544T>C (p.Tyr182His)
n.247-5839T>C
n.247+7329T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.46755994T>GCA406495535FKRPc.544T>G (p.Tyr182Asp)
n.247-5839T>G
n.247+7329T>G
19g.46755994T=CA2339067424FKRPc.544T= (p.Tyr182=)
n.247-5839T=
n.247+7329T=

Number of alleles fetched