Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.134413798T>CCA2505401337PHF6c.*505-25T>C (n.*505-25T>C)
c.484-25T>C (n.484-25T>C)
c.586-25T>C (n.586-25T>C)
c.*198-25T>C (n.*198-25T>C)
c.589-25T>C (n.589-25T>C)
Xg.134413799T>GCA2823680726PHF6c.*505-24T>G (n.*505-24T>G)
c.484-24T>G (n.484-24T>G)
c.586-24T>G (n.586-24T>G)
c.*198-24T>G (n.*198-24T>G)
c.589-24T>G (n.589-24T>G)
Xg.134413800C>ACA2526547600PHF6c.*505-23C>A (n.*505-23C>A)
c.484-23C>A (n.484-23C>A)
c.586-23C>A (n.586-23C>A)
c.*198-23C>A (n.*198-23C>A)
c.589-23C>A (n.589-23C>A)
Xg.134413800C=CA2459717440PHF6c.*505-23C= (n.*505-23C=)
c.484-23C= (n.484-23C=)
c.586-23C= (n.586-23C=)
c.*198-23C= (n.*198-23C=)
c.589-23C= (n.589-23C=)
Xg.134413800C>TCA336029332PHF6c.*505-23C>T (n.*505-23C>T)
c.484-23C>T (n.484-23C>T)
c.586-23C>T (n.586-23C>T)
c.*198-23C>T (n.*198-23C>T)
c.589-23C>T (n.589-23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.134413801G>ACA10521240PHF6c.*505-22G>A (n.*505-22G>A)
c.484-22G>A (n.484-22G>A)
c.586-22G>A (n.586-22G>A)
c.*198-22G>A (n.*198-22G>A)
c.589-22G>A (n.589-22G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
Xg.134413801G=CA2459717441PHF6c.*505-22G= (n.*505-22G=)
c.484-22G= (n.484-22G=)
c.586-22G= (n.586-22G=)
c.*198-22G= (n.*198-22G=)
c.589-22G= (n.589-22G=)
Xg.134413801G>TCA10521241PHF6c.*505-22G>T (n.*505-22G>T)
c.484-22G>T (n.484-22G>T)
c.586-22G>T (n.586-22G>T)
c.*198-22G>T (n.*198-22G>T)
c.589-22G>T (n.589-22G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.134413805T>CCA10521242PHF6c.*505-18T>C (n.*505-18T>C)
c.484-18T>C (n.484-18T>C)
c.586-18T>C (n.586-18T>C)
c.*198-18T>C (n.*198-18T>C)
c.589-18T>C (n.589-18T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.134413805T=CA2459717442PHF6c.*505-18T= (n.*505-18T=)
c.484-18T= (n.484-18T=)
c.586-18T= (n.586-18T=)
c.*198-18T= (n.*198-18T=)
c.589-18T= (n.589-18T=)
Xg.134413807_134413808insTGCA2531187620PHF6c.*505-16_*505-15insTG (n.*505-16_*505-15insTG)
c.484-16_484-15insTG (n.484-16_484-15insTG)
c.586-16_586-15insTG (n.586-16_586-15insTG)
c.*198-16_*198-15insTG (n.*198-16_*198-15insTG)
c.589-16_589-15insTG (n.589-16_589-15insTG)
Xg.134413808C=CA2459717443PHF6c.*505-15C= (n.*505-15C=)
c.484-15C= (n.484-15C=)
c.586-15C= (n.586-15C=)
c.*198-15C= (n.*198-15C=)
c.589-15C= (n.589-15C=)
Xg.134413808C>TCA10521243PHF6c.*505-15C>T (n.*505-15C>T)
c.484-15C>T (n.484-15C>T)
c.586-15C>T (n.586-15C>T)
c.*198-15C>T (n.*198-15C>T)
c.589-15C>T (n.589-15C>T)
 dbSNP ExAC gnomAD v2
Xg.134413809T>CCA336029333PHF6c.*505-14T>C (n.*505-14T>C)
c.484-14T>C (n.484-14T>C)
c.586-14T>C (n.586-14T>C)
c.*198-14T>C (n.*198-14T>C)
c.589-14T>C (n.589-14T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.134413809T>GCA336029334PHF6c.*505-14T>G (n.*505-14T>G)
c.484-14T>G (n.484-14T>G)
c.586-14T>G (n.586-14T>G)
c.*198-14T>G (n.*198-14T>G)
c.589-14T>G (n.589-14T>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.134413809T=CA2459717444PHF6c.*505-14T= (n.*505-14T=)
c.484-14T= (n.484-14T=)
c.586-14T= (n.586-14T=)
c.*198-14T= (n.*198-14T=)
c.589-14T= (n.589-14T=)
Xg.134413811T>CCA2459717446PHF6c.*505-12T>C (n.*505-12T>C)
c.484-12T>C (n.484-12T>C)
c.586-12T>C (n.586-12T>C)
c.*198-12T>C (n.*198-12T>C)
c.589-12T>C (n.589-12T>C)
 dbSNP gnomAD v4
Xg.134413811T=CA2459717445PHF6c.*505-12T= (n.*505-12T=)
c.484-12T= (n.484-12T=)
c.586-12T= (n.586-12T=)
c.*198-12T= (n.*198-12T=)
c.589-12T= (n.589-12T=)
Xg.134413813A>TCA2560147872PHF6c.*505-10A>T (n.*505-10A>T)
c.484-10A>T (n.484-10A>T)
c.586-10A>T (n.586-10A>T)
c.*198-10A>T (n.*198-10A>T)
c.589-10A>T (n.589-10A>T)
Xg.134413814C>TCA2579706011PHF6c.*505-9C>T (n.*505-9C>T)
c.484-9C>T (n.484-9C>T)
c.586-9C>T (n.586-9C>T)
c.*198-9C>T (n.*198-9C>T)
c.589-9C>T (n.589-9C>T)
Xg.134413815A=CA2459717447PHF6c.*505-8A= (n.*505-8A=)
c.484-8A= (n.484-8A=)
c.586-8A= (n.586-8A=)
c.*198-8A= (n.*198-8A=)
c.589-8A= (n.589-8A=)
Xg.134413815A>GCA871780929PHF6c.*505-8A>G (n.*505-8A>G)
c.484-8A>G (n.484-8A>G)
c.586-8A>G (n.586-8A>G)
c.*198-8A>G (n.*198-8A>G)
c.589-8A>G (n.589-8A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.134413818delCA2579706012PHF6c.*505-5del (n.*505-5del)
c.484-5del (n.484-5del)
c.586-5del (n.586-5del)
c.*198-5del (n.*198-5del)
c.589-5del (n.589-5del)
Xg.134413817T>ACA2738989609PHF6c.*505-6T>A (n.*505-6T>A)
c.484-6T>A (n.484-6T>A)
c.586-6T>A (n.586-6T>A)
c.*198-6T>A (n.*198-6T>A)
c.589-6T>A (n.589-6T>A)
 dbSNP
Xg.134413821A>CCA414712752PHF6c.*505-2A>C (n.*505-2A>C)
c.484-2A>C (n.484-2A>C)
c.586-2A>C (n.586-2A>C)
c.*198-2A>C (n.*198-2A>C)
c.589-2A>C (n.589-2A>C)
Xg.134413821A>GCA414712753PHF6c.*505-2A>G (n.*505-2A>G)
c.484-2A>G (n.484-2A>G)
c.586-2A>G (n.586-2A>G)
c.*198-2A>G (n.*198-2A>G)
c.589-2A>G (n.589-2A>G)
 COSMIC
Xg.134413821A>TCA414712754PHF6c.*505-2A>T (n.*505-2A>T)
c.484-2A>T (n.484-2A>T)
c.586-2A>T (n.586-2A>T)
c.*198-2A>T (n.*198-2A>T)
c.589-2A>T (n.589-2A>T)
Xg.134413822G>ACA414712755PHF6c.*505-1G>A (n.*505-1G>A)
c.484-1G>A (n.484-1G>A)
c.586-1G>A (n.586-1G>A)
c.*198-1G>A (n.*198-1G>A)
c.589-1G>A (n.589-1G>A)
Xg.134413822G>CCA414712756PHF6c.*505-1G>C (n.*505-1G>C)
c.484-1G>C (n.484-1G>C)
c.586-1G>C (n.586-1G>C)
c.*198-1G>C (n.*198-1G>C)
c.589-1G>C (n.589-1G>C)
Xg.134413822G>TCA414712757PHF6c.*505-1G>T (n.*505-1G>T)
c.484-1G>T (n.484-1G>T)
c.586-1G>T (n.586-1G>T)
c.*198-1G>T (n.*198-1G>T)
c.589-1G>T (n.589-1G>T)
 gnomAD v4 COSMIC COSMIC
Xg.134413823A>CCA518650988PHF6c.*505A>C (n.*505A>C)
c.484A>C (p.Arg162=)
c.586A>C (p.Arg196=)
c.*198A>C (n.*198A>C)
c.589A>C (p.Arg197=)
Xg.134413823A>GCA414712758PHF6c.*505A>G (n.*505A>G)
c.484A>G (p.Arg162Gly)
c.586A>G (p.Arg196Gly)
c.*198A>G (n.*198A>G)
c.589A>G (p.Arg197Gly)
Xg.134413823A>TCA414712759PHF6c.*505A>T (n.*505A>T)
c.484A>T (p.Arg162Ter)
c.586A>T (p.Arg196Ter)
c.*198A>T (n.*198A>T)
c.589A>T (p.Arg197Ter)
Xg.134413823dupCA645602522PHF6c.*505dup (n.*505dup)
c.484dup (p.Arg162LysfsTer3)
c.586dup (p.Arg196LysfsTer3)
c.*198dup (n.*198dup)
c.589dup (p.Arg197LysfsTer3)
 COSMIC
Xg.134413824G>ACA414712762PHF6c.*506G>A (n.*506G>A)
c.485G>A (p.Arg162Lys)
c.587G>A (p.Arg196Lys)
c.*199G>A (n.*199G>A)
c.590G>A (p.Arg197Lys)
 COSMIC COSMIC
Xg.134413824G>CCA414712761PHF6c.*506G>C (n.*506G>C)
c.485G>C (p.Arg162Thr)
c.587G>C (p.Arg196Thr)
c.*199G>C (n.*199G>C)
c.590G>C (p.Arg197Thr)
Xg.134413824G>TCA414712760PHF6c.*506G>T (n.*506G>T)
c.485G>T (p.Arg162Ile)
c.587G>T (p.Arg196Ile)
c.*199G>T (n.*199G>T)
c.590G>T (p.Arg197Ile)
Xg.134413825A>CCA414712763PHF6c.*507A>C (n.*507A>C)
c.486A>C (p.Arg162Ser)
c.588A>C (p.Arg196Ser)
c.*200A>C (n.*200A>C)
c.591A>C (p.Arg197Ser)
Xg.134413825A>GCA518650992PHF6c.*507A>G (n.*507A>G)
c.486A>G (p.Arg162=)
c.588A>G (p.Arg196=)
c.*200A>G (n.*200A>G)
c.591A>G (p.Arg197=)
Xg.134413825A>TCA414712764PHF6c.*507A>T (n.*507A>T)
c.486A>T (p.Arg162Ser)
c.588A>T (p.Arg196Ser)
c.*200A>T (n.*200A>T)
c.591A>T (p.Arg197Ser)
Xg.134413827_134413830delCA2695236438PHF6c.*509_*512del (n.*509_*512del)
c.488_491del (p.Asp163GlyfsTer20)
c.590_593del (p.Asp197GlyfsTer20)
c.*202_*205del (n.*202_*205del)
c.593_596del (p.Asp198GlyfsTer20)
Xg.134413826G>ACA414712765PHF6c.*508G>A (n.*508G>A)
c.487G>A (p.Asp163Asn)
c.589G>A (p.Asp197Asn)
c.*201G>A (n.*201G>A)
c.592G>A (p.Asp198Asn)
Xg.134413826G>CCA414712766PHF6c.*508G>C (n.*508G>C)
c.487G>C (p.Asp163His)
c.589G>C (p.Asp197His)
c.*201G>C (n.*201G>C)
c.592G>C (p.Asp198His)
Xg.134413826G>TCA414712767PHF6c.*508G>T (n.*508G>T)
c.487G>T (p.Asp163Tyr)
c.589G>T (p.Asp197Tyr)
c.*201G>T (n.*201G>T)
c.592G>T (p.Asp198Tyr)
Xg.134413827A>CCA414712768PHF6c.*509A>C (n.*509A>C)
c.488A>C (p.Asp163Ala)
c.590A>C (p.Asp197Ala)
c.*202A>C (n.*202A>C)
c.593A>C (p.Asp198Ala)
Xg.134413827A>GCA414712769PHF6c.*509A>G (n.*509A>G)
c.488A>G (p.Asp163Gly)
c.590A>G (p.Asp197Gly)
c.*202A>G (n.*202A>G)
c.593A>G (p.Asp198Gly)
Xg.134413827A>TCA414712770PHF6c.*509A>T (n.*509A>T)
c.488A>T (p.Asp163Val)
c.590A>T (p.Asp197Val)
c.*202A>T (n.*202A>T)
c.593A>T (p.Asp198Val)
Xg.134413828T>ACA414712771PHF6c.*510T>A (n.*510T>A)
c.489T>A (p.Asp163Glu)
c.591T>A (p.Asp197Glu)
c.*203T>A (n.*203T>A)
c.594T>A (p.Asp198Glu)
Xg.134413828T>CCA518650999PHF6c.*510T>C (n.*510T>C)
c.489T>C (p.Asp163=)
c.591T>C (p.Asp197=)
c.*203T>C (n.*203T>C)
c.594T>C (p.Asp198=)
Xg.134413828T>GCA414712772PHF6c.*510T>G (n.*510T>G)
c.489T>G (p.Asp163Glu)
c.591T>G (p.Asp197Glu)
c.*203T>G (n.*203T>G)
c.594T>G (p.Asp198Glu)
 dbSNP gnomAD v3 gnomAD v4
Xg.134413828T=CA2459717448PHF6c.*510T= (n.*510T=)
c.489T= (p.Asp163=)
c.591T= (p.Asp197=)
c.*203T= (n.*203T=)
c.594T= (p.Asp198=)
Xg.134413829A=CA2459717449PHF6c.*511A= (n.*511A=)
c.490A= (p.Arg164=)
c.592A= (p.Arg198=)
c.*204A= (n.*204A=)
c.595A= (p.Arg199=)
Xg.134413829A>CCA10521244PHF6c.*511A>C (n.*511A>C)
c.490A>C (p.Arg164=)
c.592A>C (p.Arg198=)
c.*204A>C (n.*204A>C)
c.595A>C (p.Arg199=)
 dbSNP ExAC gnomAD v2
Xg.134413829A>GCA414712773PHF6c.*511A>G (n.*511A>G)
c.490A>G (p.Arg164Gly)
c.592A>G (p.Arg198Gly)
c.*204A>G (n.*204A>G)
c.595A>G (p.Arg199Gly)
Xg.134413829A>TCA414712774PHF6c.*511A>T (n.*511A>T)
c.490A>T (p.Arg164Trp)
c.592A>T (p.Arg198Trp)
c.*204A>T (n.*204A>T)
c.595A>T (p.Arg199Trp)
Xg.134413829_134413835dupCA645602523PHF6c.*511_*517dup (n.*511_*517dup)
c.490_496dup (p.Pro166GlnfsTer9)
c.592_598dup (p.Pro200GlnfsTer9)
c.*204_*210dup (n.*204_*210dup)
c.595_601dup (p.Pro201GlnfsTer9)
 COSMIC
Xg.134413830G>ACA414712776PHF6c.*512G>A (n.*512G>A)
c.491G>A (p.Arg164Lys)
c.593G>A (p.Arg198Lys)
c.*205G>A (n.*205G>A)
c.596G>A (p.Arg199Lys)
Xg.134413830G>CCA414712777PHF6c.*512G>C (n.*512G>C)
c.491G>C (p.Arg164Thr)
c.593G>C (p.Arg198Thr)
c.*205G>C (n.*205G>C)
c.596G>C (p.Arg199Thr)
Xg.134413830G>TCA414712775PHF6c.*512G>T (n.*512G>T)
c.491G>T (p.Arg164Met)
c.593G>T (p.Arg198Met)
c.*205G>T (n.*205G>T)
c.596G>T (p.Arg199Met)
Xg.134413831G>ACA518651005PHF6c.*513G>A (n.*513G>A)
c.492G>A (p.Arg164=)
c.594G>A (p.Arg198=)
c.*206G>A (n.*206G>A)
c.597G>A (p.Arg199=)
Xg.134413831G>CCA414712779PHF6c.*513G>C (n.*513G>C)
c.492G>C (p.Arg164Ser)
c.594G>C (p.Arg198Ser)
c.*206G>C (n.*206G>C)
c.597G>C (p.Arg199Ser)
Xg.134413831G>TCA414712778PHF6c.*513G>T (n.*513G>T)
c.492G>T (p.Arg164Ser)
c.594G>T (p.Arg198Ser)
c.*206G>T (n.*206G>T)
c.597G>T (p.Arg199Ser)
Xg.134413832T>ACA414712780PHF6c.*514T>A (n.*514T>A)
c.493T>A (p.Ser165Thr)
c.595T>A (p.Ser199Thr)
c.*207T>A (n.*207T>A)
c.598T>A (p.Ser200Thr)
Xg.134413832T>CCA414712781PHF6c.*514T>C (n.*514T>C)
c.493T>C (p.Ser165Pro)
c.595T>C (p.Ser199Pro)
c.*207T>C (n.*207T>C)
c.598T>C (p.Ser200Pro)
Xg.134413832T>GCA414712782PHF6c.*514T>G (n.*514T>G)
c.493T>G (p.Ser165Ala)
c.595T>G (p.Ser199Ala)
c.*207T>G (n.*207T>G)
c.598T>G (p.Ser200Ala)
Xg.134413833C>ACA414712783PHF6c.*515C>A (n.*515C>A)
c.494C>A (p.Ser165Tyr)
c.596C>A (p.Ser199Tyr)
c.*208C>A (n.*208C>A)
c.599C>A (p.Ser200Tyr)
Xg.134413833C>GCA414712784PHF6c.*515C>G (n.*515C>G)
c.494C>G (p.Ser165Cys)
c.596C>G (p.Ser199Cys)
c.*208C>G (n.*208C>G)
c.599C>G (p.Ser200Cys)
 COSMIC COSMIC COSMIC
Xg.134413833C>TCA414712785PHF6c.*515C>T (n.*515C>T)
c.494C>T (p.Ser165Phe)
c.596C>T (p.Ser199Phe)
c.*208C>T (n.*208C>T)
c.599C>T (p.Ser200Phe)
Xg.134413834T>ACA518651011PHF6c.*516T>A (n.*516T>A)
c.495T>A (p.Ser165=)
c.597T>A (p.Ser199=)
c.*209T>A (n.*209T>A)
c.600T>A (p.Ser200=)
Xg.134413834T>CCA518651013PHF6c.*516T>C (n.*516T>C)
c.495T>C (p.Ser165=)
c.597T>C (p.Ser199=)
c.*209T>C (n.*209T>C)
c.600T>C (p.Ser200=)
Xg.134413834T>GCA518651014PHF6c.*516T>G (n.*516T>G)
c.495T>G (p.Ser165=)
c.597T>G (p.Ser199=)
c.*209T>G (n.*209T>G)
c.600T>G (p.Ser200=)
Xg.134413835C>ACA414712786PHF6c.*517C>A (n.*517C>A)
c.496C>A (p.Pro166Thr)
c.598C>A (p.Pro200Thr)
c.*210C>A (n.*210C>A)
c.601C>A (p.Pro201Thr)
Xg.134413835C>GCA414712787PHF6c.*517C>G (n.*517C>G)
c.496C>G (p.Pro166Ala)
c.598C>G (p.Pro200Ala)
c.*210C>G (n.*210C>G)
c.601C>G (p.Pro201Ala)
Xg.134413835C>TCA414712788PHF6c.*517C>T (n.*517C>T)
c.496C>T (p.Pro166Ser)
c.598C>T (p.Pro200Ser)
c.*210C>T (n.*210C>T)
c.601C>T (p.Pro201Ser)
Xg.134413836C>ACA414712789PHF6c.*518C>A (n.*518C>A)
c.497C>A (p.Pro166Gln)
c.599C>A (p.Pro200Gln)
c.*211C>A (n.*211C>A)
c.602C>A (p.Pro201Gln)
Xg.134413836C>GCA414712790PHF6c.*518C>G (n.*518C>G)
c.497C>G (p.Pro166Arg)
c.599C>G (p.Pro200Arg)
c.*211C>G (n.*211C>G)
c.602C>G (p.Pro201Arg)
Xg.134413836C>TCA414712791PHF6c.*518C>T (n.*518C>T)
c.497C>T (p.Pro166Leu)
c.599C>T (p.Pro200Leu)
c.*211C>T (n.*211C>T)
c.602C>T (p.Pro201Leu)
Xg.134413837delCA518651024PHF6c.*519del (n.*519del)
c.498del (p.His167ThrfsTer17)
c.600del (p.His201ThrfsTer17)
c.*212del (n.*212del)
c.603del (p.His202ThrfsTer17)
 COSMIC
Xg.134413837A>CCA518651019PHF6c.*519A>C (n.*519A>C)
c.498A>C (p.Pro166=)
c.600A>C (p.Pro200=)
c.*212A>C (n.*212A>C)
c.603A>C (p.Pro201=)
Xg.134413837A>GCA518651021PHF6c.*519A>G (n.*519A>G)
c.498A>G (p.Pro166=)
c.600A>G (p.Pro200=)
c.*212A>G (n.*212A>G)
c.603A>G (p.Pro201=)
Xg.134413837A>TCA518651023PHF6c.*519A>T (n.*519A>T)
c.498A>T (p.Pro166=)
c.600A>T (p.Pro200=)
c.*212A>T (n.*212A>T)
c.603A>T (p.Pro201=)
Xg.134413838C>ACA414712794PHF6c.*520C>A (n.*520C>A)
c.499C>A (p.His167Asn)
c.601C>A (p.His201Asn)
c.*213C>A (n.*213C>A)
c.604C>A (p.His202Asn)
Xg.134413838C>GCA414712792PHF6c.*520C>G (n.*520C>G)
c.499C>G (p.His167Asp)
c.601C>G (p.His201Asp)
c.*213C>G (n.*213C>G)
c.604C>G (p.His202Asp)
Xg.134413838C>TCA414712793PHF6c.*520C>T (n.*520C>T)
c.499C>T (p.His167Tyr)
c.601C>T (p.His201Tyr)
c.*213C>T (n.*213C>T)
c.604C>T (p.His202Tyr)
Xg.134413839A=CA2459717450PHF6c.*521A= (n.*521A=)
c.500A= (p.His167=)
c.602A= (p.His201=)
c.*214A= (n.*214A=)
c.605A= (p.His202=)
Xg.134413839A>CCA414712795PHF6c.*521A>C (n.*521A>C)
c.500A>C (p.His167Pro)
c.602A>C (p.His201Pro)
c.*214A>C (n.*214A>C)
c.605A>C (p.His202Pro)
 dbSNP
Xg.134413839A>GCA414712796PHF6c.*521A>G (n.*521A>G)
c.500A>G (p.His167Arg)
c.602A>G (p.His201Arg)
c.*214A>G (n.*214A>G)
c.605A>G (p.His202Arg)
 dbSNP
Xg.134413839A>TCA414712797PHF6c.*521A>T (n.*521A>T)
c.500A>T (p.His167Leu)
c.602A>T (p.His201Leu)
c.*214A>T (n.*214A>T)
c.605A>T (p.His202Leu)
Xg.134413840C>ACA414712798PHF6c.*522C>A (n.*522C>A)
c.501C>A (p.His167Gln)
c.603C>A (p.His201Gln)
c.*215C>A (n.*215C>A)
c.606C>A (p.His202Gln)
Xg.134413840C>GCA414712799PHF6c.*522C>G (n.*522C>G)
c.501C>G (p.His167Gln)
c.603C>G (p.His201Gln)
c.*215C>G (n.*215C>G)
c.606C>G (p.His202Gln)
Xg.134413840C>TCA518651030PHF6c.*522C>T (n.*522C>T)
c.501C>T (p.His167=)
c.603C>T (p.His201=)
c.*215C>T (n.*215C>T)
c.606C>T (p.His202=)
Xg.134413841A>CCA518651032PHF6c.*523A>C (n.*523A>C)
c.502A>C (p.Arg168=)
c.604A>C (p.Arg202=)
c.*216A>C (n.*216A>C)
c.607A>C (p.Arg203=)
Xg.134413841A>GCA414712800PHF6c.*523A>G (n.*523A>G)
c.502A>G (p.Arg168Gly)
c.604A>G (p.Arg202Gly)
c.*216A>G (n.*216A>G)
c.607A>G (p.Arg203Gly)
 gnomAD v4
Xg.134413841A>TCA414712801PHF6c.*523A>T (n.*523A>T)
c.502A>T (p.Arg168Ter)
c.604A>T (p.Arg202Ter)
c.*216A>T (n.*216A>T)
c.607A>T (p.Arg203Ter)
 COSMIC
Xg.134413842G>ACA414712802PHF6c.*524G>A (n.*524G>A)
c.503G>A (p.Arg168Lys)
c.605G>A (p.Arg202Lys)
c.*217G>A (n.*217G>A)
c.608G>A (p.Arg203Lys)
Xg.134413842G>CCA414712803PHF6c.*524G>C (n.*524G>C)
c.503G>C (p.Arg168Thr)
c.605G>C (p.Arg202Thr)
c.*217G>C (n.*217G>C)
c.608G>C (p.Arg203Thr)
Xg.134413842G>TCA414712804PHF6c.*524G>T (n.*524G>T)
c.503G>T (p.Arg168Ile)
c.605G>T (p.Arg202Ile)
c.*217G>T (n.*217G>T)
c.608G>T (p.Arg203Ile)
Xg.134413843A>CCA414712805PHF6c.*525A>C (n.*525A>C)
c.504A>C (p.Arg168Ser)
c.606A>C (p.Arg202Ser)
c.*218A>C (n.*218A>C)
c.609A>C (p.Arg203Ser)
Xg.134413843A>GCA518651038PHF6c.*525A>G (n.*525A>G)
c.504A>G (p.Arg168=)
c.606A>G (p.Arg202=)
c.*218A>G (n.*218A>G)
c.609A>G (p.Arg203=)
Xg.134413843A>TCA414712806PHF6c.*525A>T (n.*525A>T)
c.504A>T (p.Arg168Ser)
c.606A>T (p.Arg202Ser)
c.*218A>T (n.*218A>T)
c.609A>T (p.Arg203Ser)
Xg.134413844A>CCA414712809PHF6c.*526A>C (n.*526A>C)
c.505A>C (p.Ser169Arg)
c.607A>C (p.Ser203Arg)
c.*219A>C (n.*219A>C)
c.610A>C (p.Ser204Arg)
Xg.134413844A>GCA414712808PHF6c.*526A>G (n.*526A>G)
c.505A>G (p.Ser169Gly)
c.607A>G (p.Ser203Gly)
c.*219A>G (n.*219A>G)
c.610A>G (p.Ser204Gly)
Xg.134413844A>TCA414712807PHF6c.*526A>T (n.*526A>T)
c.505A>T (p.Ser169Cys)
c.607A>T (p.Ser203Cys)
c.*219A>T (n.*219A>T)
c.610A>T (p.Ser204Cys)
Xg.134413845G>ACA414712812PHF6c.*527G>A (n.*527G>A)
c.506G>A (p.Ser169Asn)
c.608G>A (p.Ser203Asn)
c.*220G>A (n.*220G>A)
c.611G>A (p.Ser204Asn)
Xg.134413845G>CCA414712810PHF6c.*527G>C (n.*527G>C)
c.506G>C (p.Ser169Thr)
c.608G>C (p.Ser203Thr)
c.*220G>C (n.*220G>C)
c.611G>C (p.Ser204Thr)
Xg.134413845G>TCA414712811PHF6c.*527G>T (n.*527G>T)
c.506G>T (p.Ser169Ile)
c.608G>T (p.Ser203Ile)
c.*220G>T (n.*220G>T)
c.611G>T (p.Ser204Ile)
Xg.134413846C>ACA414712813PHF6c.*528C>A (n.*528C>A)
c.507C>A (p.Ser169Arg)
c.609C>A (p.Ser203Arg)
c.*221C>A (n.*221C>A)
c.612C>A (p.Ser204Arg)
Xg.134413846C>GCA414712814PHF6c.*528C>G (n.*528C>G)
c.507C>G (p.Ser169Arg)
c.609C>G (p.Ser203Arg)
c.*221C>G (n.*221C>G)
c.612C>G (p.Ser204Arg)
Xg.134413846C>TCA518651043PHF6c.*528C>T (n.*528C>T)
c.507C>T (p.Ser169=)
c.609C>T (p.Ser203=)
c.*221C>T (n.*221C>T)
c.612C>T (p.Ser204=)
Xg.134413847A>CCA414712815PHF6c.*529A>C (n.*529A>C)
c.508A>C (p.Ser170Arg)
c.610A>C (p.Ser204Arg)
c.*222A>C (n.*222A>C)
c.613A>C (p.Ser205Arg)
Xg.134413847A>GCA414712816PHF6c.*529A>G (n.*529A>G)
c.508A>G (p.Ser170Gly)
c.610A>G (p.Ser204Gly)
c.*222A>G (n.*222A>G)
c.613A>G (p.Ser205Gly)
Xg.134413847A>TCA414712817PHF6c.*529A>T (n.*529A>T)
c.508A>T (p.Ser170Cys)
c.610A>T (p.Ser204Cys)
c.*222A>T (n.*222A>T)
c.613A>T (p.Ser205Cys)
Xg.134413848G>ACA414712818PHF6c.*530G>A (n.*530G>A)
c.509G>A (p.Ser170Asn)
c.611G>A (p.Ser204Asn)
c.*223G>A (n.*223G>A)
c.614G>A (p.Ser205Asn)
Xg.134413848G>CCA414712819PHF6c.*530G>C (n.*530G>C)
c.509G>C (p.Ser170Thr)
c.611G>C (p.Ser204Thr)
c.*223G>C (n.*223G>C)
c.614G>C (p.Ser205Thr)
Xg.134413848G>TCA414712820PHF6c.*530G>T (n.*530G>T)
c.509G>T (p.Ser170Ile)
c.611G>T (p.Ser204Ile)
c.*223G>T (n.*223G>T)
c.614G>T (p.Ser205Ile)
Xg.134413849C>ACA414712821PHF6c.*531C>A (n.*531C>A)
c.510C>A (p.Ser170Arg)
c.612C>A (p.Ser204Arg)
c.*224C>A (n.*224C>A)
c.615C>A (p.Ser205Arg)
Xg.134413849C>GCA414712822PHF6c.*531C>G (n.*531C>G)
c.510C>G (p.Ser170Arg)
c.612C>G (p.Ser204Arg)
c.*224C>G (n.*224C>G)
c.615C>G (p.Ser205Arg)
Xg.134413849C>TCA518651050PHF6c.*531C>T (n.*531C>T)
c.510C>T (p.Ser170=)
c.612C>T (p.Ser204=)
c.*224C>T (n.*224C>T)
c.615C>T (p.Ser205=)
Xg.134413850C>ACA414712824PHF6c.*532C>A (n.*532C>A)
c.511C>A (p.Pro171Thr)
c.613C>A (p.Pro205Thr)
c.*225C>A (n.*225C>A)
c.616C>A (p.Pro206Thr)
Xg.134413850C>GCA414712825PHF6c.*532C>G (n.*532C>G)
c.511C>G (p.Pro171Ala)
c.613C>G (p.Pro205Ala)
c.*225C>G (n.*225C>G)
c.616C>G (p.Pro206Ala)
Xg.134413850C>TCA414712823PHF6c.*532C>T (n.*532C>T)
c.511C>T (p.Pro171Ser)
c.613C>T (p.Pro205Ser)
c.*225C>T (n.*225C>T)
c.616C>T (p.Pro206Ser)
Xg.134413851C>ACA414712826PHF6c.*533C>A (n.*533C>A)
c.512C>A (p.Pro171His)
c.614C>A (p.Pro205His)
c.*226C>A (n.*226C>A)
c.617C>A (p.Pro206His)
Xg.134413851C>GCA414712827PHF6c.*533C>G (n.*533C>G)
c.512C>G (p.Pro171Arg)
c.614C>G (p.Pro205Arg)
c.*226C>G (n.*226C>G)
c.617C>G (p.Pro206Arg)
Xg.134413851C>TCA414712828PHF6c.*533C>T (n.*533C>T)
c.512C>T (p.Pro171Leu)
c.614C>T (p.Pro205Leu)
c.*226C>T (n.*226C>T)
c.617C>T (p.Pro206Leu)
Xg.134413852T>ACA518651056PHF6c.*534T>A (n.*534T>A)
c.513T>A (p.Pro171=)
c.615T>A (p.Pro205=)
c.*227T>A (n.*227T>A)
c.618T>A (p.Pro206=)
Xg.134413852T>CCA518651058PHF6c.*534T>C (n.*534T>C)
c.513T>C (p.Pro171=)
c.615T>C (p.Pro205=)
c.*227T>C (n.*227T>C)
c.618T>C (p.Pro206=)
Xg.134413852T>GCA518651059PHF6c.*534T>G (n.*534T>G)
c.513T>G (p.Pro171=)
c.615T>G (p.Pro205=)
c.*227T>G (n.*227T>G)
c.618T>G (p.Pro206=)
Xg.134413853A>CCA414712829PHF6c.*535A>C (n.*535A>C)
c.514A>C (p.Ser172Arg)
c.616A>C (p.Ser206Arg)
c.*228A>C (n.*228A>C)
c.619A>C (p.Ser207Arg)
Xg.134413853A>GCA414712830PHF6c.*535A>G (n.*535A>G)
c.514A>G (p.Ser172Gly)
c.616A>G (p.Ser206Gly)
c.*228A>G (n.*228A>G)
c.619A>G (p.Ser207Gly)
 gnomAD v4
Xg.134413853A>TCA414712831PHF6c.*535A>T (n.*535A>T)
c.514A>T (p.Ser172Cys)
c.616A>T (p.Ser206Cys)
c.*228A>T (n.*228A>T)
c.619A>T (p.Ser207Cys)
Xg.134413854G>ACA414712832PHF6c.*536G>A (n.*536G>A)
c.515G>A (p.Ser172Asn)
c.617G>A (p.Ser206Asn)
c.*229G>A (n.*229G>A)
c.620G>A (p.Ser207Asn)
 dbSNP gnomAD v3 gnomAD v4
Xg.134413854G>CCA414712834PHF6c.*536G>C (n.*536G>C)
c.515G>C (p.Ser172Thr)
c.617G>C (p.Ser206Thr)
c.*229G>C (n.*229G>C)
c.620G>C (p.Ser207Thr)
Xg.134413854G=CA2459717451PHF6c.*536G= (n.*536G=)
c.515G= (p.Ser172=)
c.617G= (p.Ser206=)
c.*229G= (n.*229G=)
c.620G= (p.Ser207=)
Xg.134413854G>TCA414712833PHF6c.*536G>T (n.*536G>T)
c.515G>T (p.Ser172Ile)
c.617G>T (p.Ser206Ile)
c.*229G>T (n.*229G>T)
c.620G>T (p.Ser207Ile)
Xg.134413855T>ACA414712835PHF6c.*537T>A (n.*537T>A)
c.516T>A (p.Ser172Arg)
c.618T>A (p.Ser206Arg)
c.*230T>A (n.*230T>A)
c.621T>A (p.Ser207Arg)
Xg.134413855T>CCA518651066PHF6c.*537T>C (n.*537T>C)
c.516T>C (p.Ser172=)
c.618T>C (p.Ser206=)
c.*230T>C (n.*230T>C)
c.621T>C (p.Ser207=)
Xg.134413855T>GCA414712836PHF6c.*537T>G (n.*537T>G)
c.516T>G (p.Ser172Arg)
c.618T>G (p.Ser206Arg)
c.*230T>G (n.*230T>G)
c.621T>G (p.Ser207Arg)
Xg.134413856G>ACA414712837PHF6c.*538G>A (n.*538G>A)
c.517G>A (p.Asp173Asn)
c.619G>A (p.Asp207Asn)
c.*231G>A (n.*231G>A)
c.622G>A (p.Asp208Asn)
 gnomAD v4
Xg.134413856G>CCA414712838PHF6c.*538G>C (n.*538G>C)
c.517G>C (p.Asp173His)
c.619G>C (p.Asp207His)
c.*231G>C (n.*231G>C)
c.622G>C (p.Asp208His)
Xg.134413856G>TCA414712839PHF6c.*538G>T (n.*538G>T)
c.517G>T (p.Asp173Tyr)
c.619G>T (p.Asp207Tyr)
c.*231G>T (n.*231G>T)
c.622G>T (p.Asp208Tyr)
 COSMIC COSMIC COSMIC
Xg.134413857A>CCA414712841PHF6c.*539A>C (n.*539A>C)
c.518A>C (p.Asp173Ala)
c.620A>C (p.Asp207Ala)
c.*232A>C (n.*232A>C)
c.623A>C (p.Asp208Ala)
Xg.134413857A>GCA414712842PHF6c.*539A>G (n.*539A>G)
c.518A>G (p.Asp173Gly)
c.620A>G (p.Asp207Gly)
c.*232A>G (n.*232A>G)
c.623A>G (p.Asp208Gly)
Xg.134413857A>TCA414712840PHF6c.*539A>T (n.*539A>T)
c.518A>T (p.Asp173Val)
c.620A>T (p.Asp207Val)
c.*232A>T (n.*232A>T)
c.623A>T (p.Asp208Val)
Xg.134413858C>ACA414712843PHF6c.*540C>A (n.*540C>A)
c.519C>A (p.Asp173Glu)
c.621C>A (p.Asp207Glu)
c.*233C>A (n.*233C>A)
c.624C>A (p.Asp208Glu)
Xg.134413858C=CA2459717452PHF6c.*540C= (n.*540C=)
c.519C= (p.Asp173=)
c.621C= (p.Asp207=)
c.*233C= (n.*233C=)
c.624C= (p.Asp208=)
Xg.134413858C>GCA414712844PHF6c.*540C>G (n.*540C>G)
c.519C>G (p.Asp173Glu)
c.621C>G (p.Asp207Glu)
c.*233C>G (n.*233C>G)
c.624C>G (p.Asp208Glu)
Xg.134413858C>TCA518651072PHF6c.*540C>T (n.*540C>T)
c.519C>T (p.Asp173=)
c.621C>T (p.Asp207=)
c.*233C>T (n.*233C>T)
c.624C>T (p.Asp208=)
 dbSNP
Xg.134413859A>CCA414712845PHF6c.*541A>C (n.*541A>C)
c.520A>C (p.Thr174Pro)
c.622A>C (p.Thr208Pro)
c.*234A>C (n.*234A>C)
c.625A>C (p.Thr209Pro)
Xg.134413859A>GCA414712846PHF6c.*541A>G (n.*541A>G)
c.520A>G (p.Thr174Ala)
c.622A>G (p.Thr208Ala)
c.*234A>G (n.*234A>G)
c.625A>G (p.Thr209Ala)
Xg.134413859A>TCA414712847PHF6c.*541A>T (n.*541A>T)
c.520A>T (p.Thr174Ser)
c.622A>T (p.Thr208Ser)
c.*234A>T (n.*234A>T)
c.625A>T (p.Thr209Ser)
Xg.134413860C>ACA414712848PHF6c.*542C>A (n.*542C>A)
c.521C>A (p.Thr174Asn)
c.623C>A (p.Thr208Asn)
c.*235C>A (n.*235C>A)
c.626C>A (p.Thr209Asn)
Xg.134413860C=CA2459717453PHF6c.*542C= (n.*542C=)
c.521C= (p.Thr174=)
c.623C= (p.Thr208=)
c.*235C= (n.*235C=)
c.626C= (p.Thr209=)
Xg.134413860C>GCA414712849PHF6c.*542C>G (n.*542C>G)
c.521C>G (p.Thr174Ser)
c.623C>G (p.Thr208Ser)
c.*235C>G (n.*235C>G)
c.626C>G (p.Thr209Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.134413860C>TCA414712850PHF6c.*542C>T (n.*542C>T)
c.521C>T (p.Thr174Ile)
c.623C>T (p.Thr208Ile)
c.*235C>T (n.*235C>T)
c.626C>T (p.Thr209Ile)
 ClinVar gnomAD v4
Xg.134413861C>ACA518651077PHF6c.*543C>A (n.*543C>A)
c.522C>A (p.Thr174=)
c.624C>A (p.Thr208=)
c.*236C>A (n.*236C>A)
c.627C>A (p.Thr209=)
Xg.134413861C=CA2459717454PHF6c.*543C= (n.*543C=)
c.522C= (p.Thr174=)
c.624C= (p.Thr208=)
c.*236C= (n.*236C=)
c.627C= (p.Thr209=)
Xg.134413861C>GCA518651079PHF6c.*543C>G (n.*543C>G)
c.522C>G (p.Thr174=)
c.624C>G (p.Thr208=)
c.*236C>G (n.*236C>G)
c.627C>G (p.Thr209=)
Xg.134413861C>TCA518651081PHF6c.*543C>T (n.*543C>T)
c.522C>T (p.Thr174=)
c.624C>T (p.Thr208=)
c.*236C>T (n.*236C>T)
c.627C>T (p.Thr209=)
 ClinVar dbSNP gnomAD v4
Xg.134413862A>CCA518651082PHF6c.*544A>C (n.*544A>C)
c.523A>C (p.Arg175=)
c.625A>C (p.Arg209=)
c.*237A>C (n.*237A>C)
c.628A>C (p.Arg210=)
Xg.134413862A>GCA414712851PHF6c.*544A>G (n.*544A>G)
c.523A>G (p.Arg175Gly)
c.625A>G (p.Arg209Gly)
c.*237A>G (n.*237A>G)
c.628A>G (p.Arg210Gly)
Xg.134413862A>TCA414712852PHF6c.*544A>T (n.*544A>T)
c.523A>T (p.Arg175Trp)
c.625A>T (p.Arg209Trp)
c.*237A>T (n.*237A>T)
c.628A>T (p.Arg210Trp)
Xg.134413863G>ACA414712853PHF6c.*545G>A (n.*545G>A)
c.524G>A (p.Arg175Lys)
c.626G>A (p.Arg209Lys)
c.*238G>A (n.*238G>A)
c.629G>A (p.Arg210Lys)
Xg.134413863G>CCA414712854PHF6c.*545G>C (n.*545G>C)
c.524G>C (p.Arg175Thr)
c.626G>C (p.Arg209Thr)
c.*238G>C (n.*238G>C)
c.629G>C (p.Arg210Thr)
Xg.134413863G>TCA414712855PHF6c.*545G>T (n.*545G>T)
c.524G>T (p.Arg175Met)
c.626G>T (p.Arg209Met)
c.*238G>T (n.*238G>T)
c.629G>T (p.Arg210Met)
Xg.134413864G>ACA518651087PHF6c.*546G>A (n.*546G>A)
c.525G>A (p.Arg175=)
c.627G>A (p.Arg209=)
c.*239G>A (n.*239G>A)
c.630G>A (p.Arg210=)
Xg.134413864G>CCA414712856PHF6c.*546G>C (n.*546G>C)
c.525G>C (p.Arg175Ser)
c.627G>C (p.Arg209Ser)
c.*239G>C (n.*239G>C)
c.630G>C (p.Arg210Ser)
Xg.134413864G>TCA414712857PHF6c.*546G>T (n.*546G>T)
c.525G>T (p.Arg175Ser)
c.627G>T (p.Arg209Ser)
c.*239G>T (n.*239G>T)
c.630G>T (p.Arg210Ser)
 dbSNP
Xg.134413865C>ACA414712860PHF6c.*547C>A (n.*547C>A)
c.526C>A (p.Pro176Thr)
c.628C>A (p.Pro210Thr)
c.*240C>A (n.*240C>A)
c.631C>A (p.Pro211Thr)
 dbSNP
Xg.134413865C>GCA414712858PHF6c.*547C>G (n.*547C>G)
c.526C>G (p.Pro176Ala)
c.628C>G (p.Pro210Ala)
c.*240C>G (n.*240C>G)
c.631C>G (p.Pro211Ala)
Xg.134413865C>TCA414712859PHF6c.*547C>T (n.*547C>T)
c.526C>T (p.Pro176Ser)
c.628C>T (p.Pro210Ser)
c.*240C>T (n.*240C>T)
c.631C>T (p.Pro211Ser)
Xg.134413866C>ACA414712861PHF6c.*548C>A (n.*548C>A)
c.527C>A (p.Pro176His)
c.629C>A (p.Pro210His)
c.*241C>A (n.*241C>A)
c.632C>A (p.Pro211His)
Xg.134413866C=CA2459717455PHF6c.*548C= (n.*548C=)
c.527C= (p.Pro176=)
c.629C= (p.Pro210=)
c.*241C= (n.*241C=)
c.632C= (p.Pro211=)
Xg.134413866C>GCA414712862PHF6c.*548C>G (n.*548C>G)
c.527C>G (p.Pro176Arg)
c.629C>G (p.Pro210Arg)
c.*241C>G (n.*241C>G)
c.632C>G (p.Pro211Arg)
Xg.134413866C>TCA414712863PHF6c.*548C>T (n.*548C>T)
c.527C>T (p.Pro176Leu)
c.629C>T (p.Pro210Leu)
c.*241C>T (n.*241C>T)
c.632C>T (p.Pro211Leu)
 dbSNP
Xg.134413867T>ACA518651093PHF6c.*549T>A (n.*549T>A)
c.528T>A (p.Pro176=)
c.630T>A (p.Pro210=)
c.*242T>A (n.*242T>A)
c.633T>A (p.Pro211=)
Xg.134413867T>CCA518651096PHF6c.*549T>C (n.*549T>C)
c.528T>C (p.Pro176=)
c.630T>C (p.Pro210=)
c.*242T>C (n.*242T>C)
c.633T>C (p.Pro211=)
Xg.134413867T>GCA518651095PHF6c.*549T>G (n.*549T>G)
c.528T>G (p.Pro176=)
c.630T>G (p.Pro210=)
c.*242T>G (n.*242T>G)
c.633T>G (p.Pro211=)
Xg.134413868A>CCA414712864PHF6c.*550A>C (n.*550A>C)
c.529A>C (p.Lys177Gln)
c.631A>C (p.Lys211Gln)
c.*243A>C (n.*243A>C)
c.634A>C (p.Lys212Gln)
Xg.134413868A>GCA414712865PHF6c.*550A>G (n.*550A>G)
c.529A>G (p.Lys177Glu)
c.631A>G (p.Lys211Glu)
c.*243A>G (n.*243A>G)
c.634A>G (p.Lys212Glu)
 COSMIC
Xg.134413868A>TCA414712866PHF6c.*550A>T (n.*550A>T)
c.529A>T (p.Lys177Ter)
c.631A>T (p.Lys211Ter)
c.*243A>T (n.*243A>T)
c.634A>T (p.Lys212Ter)
 COSMIC
Xg.134413869A=CA2459717456PHF6c.*551A= (n.*551A=)
c.530A= (p.Lys177=)
c.632A= (p.Lys211=)
c.*244A= (n.*244A=)
c.635A= (p.Lys212=)
Xg.134413869A>CCA414712867PHF6c.*551A>C (n.*551A>C)
c.530A>C (p.Lys177Thr)
c.632A>C (p.Lys211Thr)
c.*244A>C (n.*244A>C)
c.635A>C (p.Lys212Thr)
 gnomAD v4
Xg.134413869A>GCA10521245PHF6c.*551A>G (n.*551A>G)
c.530A>G (p.Lys177Arg)
c.632A>G (p.Lys211Arg)
c.*244A>G (n.*244A>G)
c.635A>G (p.Lys212Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.134413869A>TCA414712868PHF6c.*551A>T (n.*551A>T)
c.530A>T (p.Lys177Ile)
c.632A>T (p.Lys211Ile)
c.*244A>T (n.*244A>T)
c.635A>T (p.Lys212Ile)
Xg.134413870A=CA2459717457PHF6c.*552A= (n.*552A=)
c.531A= (p.Lys177=)
c.633A= (p.Lys211=)
c.*245A= (n.*245A=)
c.636A= (p.Lys212=)
Xg.134413870A>CCA414712869PHF6c.*552A>C (n.*552A>C)
c.531A>C (p.Lys177Asn)
c.633A>C (p.Lys211Asn)
c.*245A>C (n.*245A>C)
c.636A>C (p.Lys212Asn)
Xg.134413870A>GCA518651109PHF6c.*552A>G (n.*552A>G)
c.531A>G (p.Lys177=)
c.633A>G (p.Lys211=)
c.*245A>G (n.*245A>G)
c.636A>G (p.Lys212=)
 dbSNP
Xg.134413870A>TCA336029335PHF6c.*552A>T (n.*552A>T)
c.531A>T (p.Lys177Asn)
c.633A>T (p.Lys211Asn)
c.*245A>T (n.*245A>T)
c.636A>T (p.Lys212Asn)
 dbSNP
Xg.134413871T>ACA414712872PHF6c.*553T>A (n.*553T>A)
c.532T>A (p.Cys178Ser)
c.634T>A (p.Cys212Ser)
c.*246T>A (n.*246T>A)
c.637T>A (p.Cys213Ser)
Xg.134413871T>CCA414712871PHF6c.*553T>C (n.*553T>C)
c.532T>C (p.Cys178Arg)
c.634T>C (p.Cys212Arg)
c.*246T>C (n.*246T>C)
c.637T>C (p.Cys213Arg)
Xg.134413871T>GCA414712870PHF6c.*553T>G (n.*553T>G)
c.532T>G (p.Cys178Gly)
c.634T>G (p.Cys212Gly)
c.*246T>G (n.*246T>G)
c.637T>G (p.Cys213Gly)
Xg.134413873_134413874delCA645602524PHF6c.*555_*556del (n.*555_*556del)
c.534_535del (p.Cys178TrpfsTer11)
c.636_637del (p.Cys212TrpfsTer11)
c.*248_*249del (n.*248_*249del)
c.639_640del (p.Cys213TrpfsTer11)
 COSMIC
Xg.134413872G>ACA414712873PHF6c.*554G>A (n.*554G>A)
c.533G>A (p.Cys178Tyr)
c.635G>A (p.Cys212Tyr)
c.*247G>A (n.*247G>A)
c.638G>A (p.Cys213Tyr)
Xg.134413872G>CCA414712874PHF6c.*554G>C (n.*554G>C)
c.533G>C (p.Cys178Ser)
c.635G>C (p.Cys212Ser)
c.*247G>C (n.*247G>C)
c.638G>C (p.Cys213Ser)
Xg.134413872G>TCA414712875PHF6c.*554G>T (n.*554G>T)
c.533G>T (p.Cys178Phe)
c.635G>T (p.Cys212Phe)
c.*247G>T (n.*247G>T)
c.638G>T (p.Cys213Phe)
Xg.134413873T>ACA414712876PHF6c.*555T>A (n.*555T>A)
c.534T>A (p.Cys178Ter)
c.636T>A (p.Cys212Ter)
c.*248T>A (n.*248T>A)
c.639T>A (p.Cys213Ter)
Xg.134413873T>CCA518651116PHF6c.*555T>C (n.*555T>C)
c.534T>C (p.Cys178=)
c.636T>C (p.Cys212=)
c.*248T>C (n.*248T>C)
c.639T>C (p.Cys213=)
 dbSNP gnomAD v3 gnomAD v4
Xg.134413873T>GCA414712877PHF6c.*555T>G (n.*555T>G)
c.534T>G (p.Cys178Trp)
c.636T>G (p.Cys212Trp)
c.*248T>G (n.*248T>G)
c.639T>G (p.Cys213Trp)
Xg.134413873T=CA2459717458PHF6c.*555T= (n.*555T=)
c.534T= (p.Cys178=)
c.636T= (p.Cys212=)
c.*248T= (n.*248T=)
c.639T= (p.Cys213=)
Xg.134413874G>ACA414712880PHF6c.*556G>A (n.*556G>A)
c.535G>A (p.Gly179Arg)
c.637G>A (p.Gly213Arg)
c.*249G>A (n.*249G>A)
c.640G>A (p.Gly214Arg)
 COSMIC
Xg.134413874G>CCA414712879PHF6c.*556G>C (n.*556G>C)
c.535G>C (p.Gly179Arg)
c.637G>C (p.Gly213Arg)
c.*249G>C (n.*249G>C)
c.640G>C (p.Gly214Arg)
Xg.134413874G>TCA414712878PHF6c.*556G>T (n.*556G>T)
c.535G>T (p.Gly179Ter)
c.637G>T (p.Gly213Ter)
c.*249G>T (n.*249G>T)
c.640G>T (p.Gly214Ter)
Xg.134413877_134413878insAGGATCA645602525PHF6c.*559_*560insAGGAT (n.*559_*560insAGGAT)
c.538_539insAGGAT (p.Phe180Ter)
c.640_641insAGGAT (p.Phe214Ter)
c.*252_*253insAGGAT (n.*252_*253insAGGAT)
c.643_644insAGGAT (p.Phe215Ter)
 COSMIC COSMIC
Xg.134413875G>ACA414712881PHF6c.*557G>A (n.*557G>A)
c.536G>A (p.Gly179Glu)
c.638G>A (p.Gly213Glu)
c.*250G>A (n.*250G>A)
c.641G>A (p.Gly214Glu)
Xg.134413875G>CCA414712882PHF6c.*557G>C (n.*557G>C)
c.536G>C (p.Gly179Ala)
c.638G>C (p.Gly213Ala)
c.*250G>C (n.*250G>C)
c.641G>C (p.Gly214Ala)
Xg.134413875G>TCA414712883PHF6c.*557G>T (n.*557G>T)
c.536G>T (p.Gly179Val)
c.638G>T (p.Gly213Val)
c.*250G>T (n.*250G>T)
c.641G>T (p.Gly214Val)
 COSMIC COSMIC COSMIC
Xg.134413876A>CCA518651126PHF6c.*558A>C (n.*558A>C)
c.537A>C (p.Gly179=)
c.639A>C (p.Gly213=)
c.*251A>C (n.*251A>C)
c.642A>C (p.Gly214=)
Xg.134413876A>GCA518651124PHF6c.*558A>G (n.*558A>G)
c.537A>G (p.Gly179=)
c.639A>G (p.Gly213=)
c.*251A>G (n.*251A>G)
c.642A>G (p.Gly214=)
Xg.134413876A>TCA518651123PHF6c.*558A>T (n.*558A>T)
c.537A>T (p.Gly179=)
c.639A>T (p.Gly213=)
c.*251A>T (n.*251A>T)
c.642A>T (p.Gly214=)
Xg.134413876_134413877insCCCA645602526PHF6c.*558_*559insCC (n.*558_*559insCC)
c.537_538insCC (p.Phe180ProfsTer5)
c.639_640insCC (p.Phe214ProfsTer5)
c.*251_*252insCC (n.*251_*252insCC)
c.642_643insCC (p.Phe215ProfsTer5)
 COSMIC COSMIC COSMIC
Xg.134413877T>ACA414712884PHF6c.*559T>A (n.*559T>A)
c.538T>A (p.Phe180Ile)
c.640T>A (p.Phe214Ile)
c.*252T>A (n.*252T>A)
c.643T>A (p.Phe215Ile)
Xg.134413877T>CCA414712885PHF6c.*559T>C (n.*559T>C)
c.538T>C (p.Phe180Leu)
c.640T>C (p.Phe214Leu)
c.*252T>C (n.*252T>C)
c.643T>C (p.Phe215Leu)
Xg.134413877T>GCA414712886PHF6c.*559T>G (n.*559T>G)
c.538T>G (p.Phe180Val)
c.640T>G (p.Phe214Val)
c.*252T>G (n.*252T>G)
c.643T>G (p.Phe215Val)
Xg.134413878T>ACA414712887PHF6c.*560T>A (n.*560T>A)
c.539T>A (p.Phe180Tyr)
c.641T>A (p.Phe214Tyr)
c.*253T>A (n.*253T>A)
c.644T>A (p.Phe215Tyr)
Xg.134413878T>CCA414712889PHF6c.*560T>C (n.*560T>C)
c.539T>C (p.Phe180Ser)
c.641T>C (p.Phe214Ser)
c.*253T>C (n.*253T>C)
c.644T>C (p.Phe215Ser)
Xg.134413878T>GCA414712888PHF6c.*560T>G (n.*560T>G)
c.539T>G (p.Phe180Cys)
c.641T>G (p.Phe214Cys)
c.*253T>G (n.*253T>G)
c.644T>G (p.Phe215Cys)
Xg.134413879T>ACA414712890PHF6c.*561T>A (n.*561T>A)
c.540T>A (p.Phe180Leu)
c.642T>A (p.Phe214Leu)
c.*254T>A (n.*254T>A)
c.645T>A (p.Phe215Leu)
Xg.134413879T>CCA518651132PHF6c.*561T>C (n.*561T>C)
c.540T>C (p.Phe180=)
c.642T>C (p.Phe214=)
c.*254T>C (n.*254T>C)
c.645T>C (p.Phe215=)
 gnomAD v4
Xg.134413879T>GCA414712891PHF6c.*561T>G (n.*561T>G)
c.540T>G (p.Phe180Leu)
c.642T>G (p.Phe214Leu)
c.*254T>G (n.*254T>G)
c.645T>G (p.Phe215Leu)
Xg.134413880T>ACA414712892PHF6c.*562T>A (n.*562T>A)
c.541T>A (p.Cys181Ser)
c.643T>A (p.Cys215Ser)
c.*255T>A (n.*255T>A)
c.646T>A (p.Cys216Ser)
Xg.134413880T>CCA414712893PHF6c.*562T>C (n.*562T>C)
c.541T>C (p.Cys181Arg)
c.643T>C (p.Cys215Arg)
c.*255T>C (n.*255T>C)
c.646T>C (p.Cys216Arg)
 COSMIC COSMIC COSMIC
Xg.134413880T>GCA414712894PHF6c.*562T>G (n.*562T>G)
c.541T>G (p.Cys181Gly)
c.643T>G (p.Cys215Gly)
c.*255T>G (n.*255T>G)
c.646T>G (p.Cys216Gly)
Xg.134413881G>ACA414712895PHF6c.*563G>A (n.*563G>A)
c.542G>A (p.Cys181Tyr)
c.644G>A (p.Cys215Tyr)
c.*256G>A (n.*256G>A)
c.647G>A (p.Cys216Tyr)
Xg.134413881G>CCA414712896PHF6c.*563G>C (n.*563G>C)
c.542G>C (p.Cys181Ser)
c.644G>C (p.Cys215Ser)
c.*256G>C (n.*256G>C)
c.647G>C (p.Cys216Ser)
Xg.134413881G>TCA414712897PHF6c.*563G>T (n.*563G>T)
c.542G>T (p.Cys181Phe)
c.644G>T (p.Cys215Phe)
c.*256G>T (n.*256G>T)
c.647G>T (p.Cys216Phe)
Xg.134413882C>ACA414712898PHF6c.*564C>A (n.*564C>A)
c.543C>A (p.Cys181Ter)
c.645C>A (p.Cys215Ter)
c.*257C>A (n.*257C>A)
c.648C>A (p.Cys216Ter)
Xg.134413882C>GCA414712899PHF6c.*564C>G (n.*564C>G)
c.543C>G (p.Cys181Trp)
c.645C>G (p.Cys215Trp)
c.*257C>G (n.*257C>G)
c.648C>G (p.Cys216Trp)
Xg.134413882C>TCA518651139PHF6c.*564C>T (n.*564C>T)
c.543C>T (p.Cys181=)
c.645C>T (p.Cys215=)
c.*257C>T (n.*257C>T)
c.648C>T (p.Cys216=)
 gnomAD v4
Xg.134413883C>ACA414712902PHF6c.*565C>A (n.*565C>A)
c.544C>A (p.His182Asn)
c.646C>A (p.His216Asn)
c.*258C>A (n.*258C>A)
c.649C>A (p.His217Asn)
Xg.134413883C>GCA414712901PHF6c.*565C>G (n.*565C>G)
c.544C>G (p.His182Asp)
c.646C>G (p.His216Asp)
c.*258C>G (n.*258C>G)
c.649C>G (p.His217Asp)
Xg.134413883C>TCA414712900PHF6c.*565C>T (n.*565C>T)
c.544C>T (p.His182Tyr)
c.646C>T (p.His216Tyr)
c.*258C>T (n.*258C>T)
c.649C>T (p.His217Tyr)
Xg.134413884A>CCA414712903PHF6c.*566A>C (n.*566A>C)
c.545A>C (p.His182Pro)
c.647A>C (p.His216Pro)
c.*259A>C (n.*259A>C)
c.650A>C (p.His217Pro)
Xg.134413884A>GCA414712905PHF6c.*566A>G (n.*566A>G)
c.545A>G (p.His182Arg)
c.647A>G (p.His216Arg)
c.*259A>G (n.*259A>G)
c.650A>G (p.His217Arg)
Xg.134413884A>TCA414712904PHF6c.*566A>T (n.*566A>T)
c.545A>T (p.His182Leu)
c.647A>T (p.His216Leu)
c.*259A>T (n.*259A>T)
c.650A>T (p.His217Leu)
Xg.134413885T>ACA414712906PHF6c.*567T>A (n.*567T>A)
c.546T>A (p.His182Gln)
c.648T>A (p.His216Gln)
c.*260T>A (n.*260T>A)
c.651T>A (p.His217Gln)
Xg.134413885T>CCA10521246PHF6c.*567T>C (n.*567T>C)
c.546T>C (p.His182=)
c.648T>C (p.His216=)
c.*260T>C (n.*260T>C)
c.651T>C (p.His217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.134413885T>GCA414712907PHF6c.*567T>G (n.*567T>G)
c.546T>G (p.His182Gln)
c.648T>G (p.His216Gln)
c.*260T>G (n.*260T>G)
c.651T>G (p.His217Gln)
Xg.134413885T=CA2459717459PHF6c.*567T= (n.*567T=)
c.546T= (p.His182=)
c.648T= (p.His216=)
c.*260T= (n.*260T=)
c.651T= (p.His217=)
Xg.134413886G>ACA414712908PHF6c.*568G>A (n.*568G>A)
c.547G>A (p.Val183Ile)
c.649G>A (p.Val217Ile)
c.*261G>A (n.*261G>A)
c.652G>A (p.Val218Ile)
Xg.134413886G>CCA414712910PHF6c.*568G>C (n.*568G>C)
c.547G>C (p.Val183Leu)
c.649G>C (p.Val217Leu)
c.*261G>C (n.*261G>C)
c.652G>C (p.Val218Leu)
Xg.134413886G>TCA414712909PHF6c.*568G>T (n.*568G>T)
c.547G>T (p.Val183Leu)
c.649G>T (p.Val217Leu)
c.*261G>T (n.*261G>T)
c.652G>T (p.Val218Leu)
 gnomAD v4
Xg.134413887T>ACA414712911PHF6c.*569T>A (n.*569T>A)
c.548T>A (p.Val183Glu)
c.650T>A (p.Val217Glu)
c.*262T>A (n.*262T>A)
c.653T>A (p.Val218Glu)
Xg.134413887T>CCA414712912PHF6c.*569T>C (n.*569T>C)
c.548T>C (p.Val183Ala)
c.650T>C (p.Val217Ala)
c.*262T>C (n.*262T>C)
c.653T>C (p.Val218Ala)
Xg.134413887T>GCA414712913PHF6c.*569T>G (n.*569T>G)
c.548T>G (p.Val183Gly)
c.650T>G (p.Val217Gly)
c.*262T>G (n.*262T>G)
c.653T>G (p.Val218Gly)
Xg.134413888A>CCA518651149PHF6c.*570A>C (n.*570A>C)
c.549A>C (p.Val183=)
c.651A>C (p.Val217=)
c.*263A>C (n.*263A>C)
c.654A>C (p.Val218=)
Xg.134413888A>GCA518651151PHF6c.*570A>G (n.*570A>G)
c.549A>G (p.Val183=)
c.651A>G (p.Val217=)
c.*263A>G (n.*263A>G)
c.654A>G (p.Val218=)
Xg.134413888A>TCA518651153PHF6c.*570A>T (n.*570A>T)
c.549A>T (p.Val183=)
c.651A>T (p.Val217=)
c.*263A>T (n.*263A>T)
c.654A>T (p.Val218=)
Xg.134413888_134413889insTCA2695202447PHF6c.*570_*571insT (n.*570_*571insT)
c.549_550insT (p.Gly184TrpfsTer6)
c.651_652insT (p.Gly218TrpfsTer6)
c.*263_*264insT (n.*263_*264insT)
c.654_655insT (p.Gly219TrpfsTer6)
Xg.134413889G>ACA414712914PHF6c.*571G>A (n.*571G>A)
c.550G>A (p.Gly184Arg)
c.652G>A (p.Gly218Arg)
c.*264G>A (n.*264G>A)
c.655G>A (p.Gly219Arg)
Xg.134413889G>CCA414712915PHF6c.*571G>C (n.*571G>C)
c.550G>C (p.Gly184Arg)
c.652G>C (p.Gly218Arg)
c.*264G>C (n.*264G>C)
c.655G>C (p.Gly219Arg)
Xg.134413889G>TCA414712916PHF6c.*571G>T (n.*571G>T)
c.550G>T (p.Gly184Trp)
c.652G>T (p.Gly218Trp)
c.*264G>T (n.*264G>T)
c.655G>T (p.Gly219Trp)
Xg.134413889_134413892delCA2823680727PHF6c.*571_*574del (n.*571_*574del)
c.550_553del (p.Gly184ArgfsTer?)
c.652_655del (p.Gly218ArgfsTer?)
c.*264_*267del (n.*264_*267del)
c.655_658del (p.Gly219ArgfsTer?)
Xg.134413890G>ACA414712917PHF6c.*572G>A (n.*572G>A)
c.551G>A (p.Gly184Glu)
c.653G>A (p.Gly218Glu)
c.*265G>A (n.*265G>A)
c.656G>A (p.Gly219Glu)
Xg.134413890G>CCA414712918PHF6c.*572G>C (n.*572G>C)
c.551G>C (p.Gly184Ala)
c.653G>C (p.Gly218Ala)
c.*265G>C (n.*265G>C)
c.656G>C (p.Gly219Ala)
Xg.134413890G>TCA414712919PHF6c.*572G>T (n.*572G>T)
c.551G>T (p.Gly184Val)
c.653G>T (p.Gly218Val)
c.*265G>T (n.*265G>T)
c.656G>T (p.Gly219Val)
Xg.134413890_134413904delinsCCCTTTAAAGGGACA645602527PHF6c.*572_*586delinsCCCTTTAAAGGGA (n.*572_*586delinsCCCTTTAAAGGGA)
c.551_565delinsCCCTTTAAAGGGA (p.Gly184AlafsTer3)
c.653_667delinsCCCTTTAAAGGGA (p.Gly218AlafsTer3)
c.*265_*279delinsCCCTTTAAAGGGA (n.*265_*279delinsCCCTTTAAAGGGA)
c.656_670delinsCCCTTTAAAGGGA (p.Gly219AlafsTer3)
 COSMIC
Xg.134413891G>ACA518651157PHF6c.*573G>A (n.*573G>A)
c.552G>A (p.Gly184=)
c.654G>A (p.Gly218=)
c.*266G>A (n.*266G>A)
c.657G>A (p.Gly219=)
Xg.134413891G>CCA518651159PHF6c.*573G>C (n.*573G>C)
c.552G>C (p.Gly184=)
c.654G>C (p.Gly218=)
c.*266G>C (n.*266G>C)
c.657G>C (p.Gly219=)
Xg.134413891G>TCA518651161PHF6c.*573G>T (n.*573G>T)
c.552G>T (p.Gly184=)
c.654G>T (p.Gly218=)
c.*266G>T (n.*266G>T)
c.657G>T (p.Gly219=)
Xg.134413892G>ACA414712920PHF6c.*574G>A (n.*574G>A)
c.553G>A (p.Glu185Lys)
c.655G>A (p.Glu219Lys)
c.*267G>A (n.*267G>A)
c.658G>A (p.Glu220Lys)
Xg.134413892G>CCA414712921PHF6c.*574G>C (n.*574G>C)
c.553G>C (p.Glu185Gln)
c.655G>C (p.Glu219Gln)
c.*267G>C (n.*267G>C)
c.658G>C (p.Glu220Gln)
Xg.134413892G>TCA414712922PHF6c.*574G>T (n.*574G>T)
c.553G>T (p.Glu185Ter)
c.655G>T (p.Glu219Ter)
c.*267G>T (n.*267G>T)
c.658G>T (p.Glu220Ter)
Xg.134413893A>CCA414712923PHF6c.*575A>C (n.*575A>C)
c.554A>C (p.Glu185Ala)
c.656A>C (p.Glu219Ala)
c.*268A>C (n.*268A>C)
c.659A>C (p.Glu220Ala)
Xg.134413893A>GCA414712925PHF6c.*575A>G (n.*575A>G)
c.554A>G (p.Glu185Gly)
c.656A>G (p.Glu219Gly)
c.*268A>G (n.*268A>G)
c.659A>G (p.Glu220Gly)
Xg.134413893A>TCA414712924PHF6c.*575A>T (n.*575A>T)
c.554A>T (p.Glu185Val)
c.656A>T (p.Glu219Val)
c.*268A>T (n.*268A>T)
c.659A>T (p.Glu220Val)
Xg.134413893_134413894insAAAACA2823680728PHF6c.*575_*576insAAAA (n.*575_*576insAAAA)
c.554_555insAAAA (p.Glu186LysfsTer5)
c.656_657insAAAA (p.Glu220LysfsTer5)
c.*268_*269insAAAA (n.*268_*269insAAAA)
c.659_660insAAAA (p.Glu221LysfsTer5)
Xg.134413894G>ACA518651166PHF6c.*576G>A (n.*576G>A)
c.555G>A (p.Glu185=)
c.657G>A (p.Glu219=)
c.*269G>A (n.*269G>A)
c.660G>A (p.Glu220=)
Xg.134413894G>CCA414712926PHF6c.*576G>C (n.*576G>C)
c.555G>C (p.Glu185Asp)
c.657G>C (p.Glu219Asp)
c.*269G>C (n.*269G>C)
c.660G>C (p.Glu220Asp)
Xg.134413894G>TCA414712927PHF6c.*576G>T (n.*576G>T)
c.555G>T (p.Glu185Asp)
c.657G>T (p.Glu219Asp)
c.*269G>T (n.*269G>T)
c.660G>T (p.Glu220Asp)
Xg.134413895G>ACA414712928PHF6c.*577G>A (n.*577G>A)
c.556G>A (p.Glu186Lys)
c.658G>A (p.Glu220Lys)
c.*270G>A (n.*270G>A)
c.661G>A (p.Glu221Lys)
Xg.134413895G>CCA414712929PHF6c.*577G>C (n.*577G>C)
c.556G>C (p.Glu186Gln)
c.658G>C (p.Glu220Gln)
c.*270G>C (n.*270G>C)
c.661G>C (p.Glu221Gln)
Xg.134413895G>TCA414712930PHF6c.*577G>T (n.*577G>T)
c.556G>T (p.Glu186Ter)
c.658G>T (p.Glu220Ter)
c.*270G>T (n.*270G>T)
c.661G>T (p.Glu221Ter)
Xg.134413896A>CCA414712931PHF6c.*578A>C (n.*578A>C)
c.557A>C (p.Glu186Ala)
c.659A>C (p.Glu220Ala)
c.*271A>C (n.*271A>C)
c.662A>C (p.Glu221Ala)
Xg.134413896A>GCA414712932PHF6c.*578A>G (n.*578A>G)
c.557A>G (p.Glu186Gly)
c.659A>G (p.Glu220Gly)
c.*271A>G (n.*271A>G)
c.662A>G (p.Glu221Gly)
Xg.134413896A>TCA414712933PHF6c.*578A>T (n.*578A>T)
c.557A>T (p.Glu186Val)
c.659A>T (p.Glu220Val)
c.*271A>T (n.*271A>T)
c.662A>T (p.Glu221Val)
Xg.134413897A>CCA414712934PHF6c.*579A>C (n.*579A>C)
c.558A>C (p.Glu186Asp)
c.660A>C (p.Glu220Asp)
c.*272A>C (n.*272A>C)
c.663A>C (p.Glu221Asp)
Xg.134413897A>GCA518651173PHF6c.*579A>G (n.*579A>G)
c.558A>G (p.Glu186=)
c.660A>G (p.Glu220=)
c.*272A>G (n.*272A>G)
c.663A>G (p.Glu221=)
Xg.134413897A>TCA414712935PHF6c.*579A>T (n.*579A>T)
c.558A>T (p.Glu186Asp)
c.660A>T (p.Glu220Asp)
c.*272A>T (n.*272A>T)
c.663A>T (p.Glu221Asp)
Xg.134413898G>ACA414712938PHF6c.*580G>A (n.*580G>A)
c.559G>A (p.Glu187Lys)
c.661G>A (p.Glu221Lys)
c.*273G>A (n.*273G>A)
c.664G>A (p.Glu222Lys)
Xg.134413898G>CCA414712937PHF6c.*580G>C (n.*580G>C)
c.559G>C (p.Glu187Gln)
c.661G>C (p.Glu221Gln)
c.*273G>C (n.*273G>C)
c.664G>C (p.Glu222Gln)
Xg.134413898G>TCA414712936PHF6c.*580G>T (n.*580G>T)
c.559G>T (p.Glu187Ter)
c.661G>T (p.Glu221Ter)
c.*273G>T (n.*273G>T)
c.664G>T (p.Glu222Ter)
 COSMIC COSMIC COSMIC

Number of alleles fetched