Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40605575C>ACA405933457LTBP4c.613C>A (p.Gln205Lys)
c.703C>A (p.Gln235Lys)
c.814C>A (p.Gln272Lys)
n.428+5472C>A
c.*549C>A (n.*549C>A)
c.847C>A (p.Gln283Lys)
c.205C>A (p.Gln69Lys)
19g.40605575C=CA2336060072LTBP4c.613C= (p.Gln205=)
c.703C= (p.Gln235=)
c.814C= (p.Gln272=)
n.428+5472C=
c.*549C= (n.*549C=)
c.847C= (p.Gln283=)
c.205C= (p.Gln69=)
19g.40605575C>GCA405933459LTBP4c.613C>G (p.Gln205Glu)
c.703C>G (p.Gln235Glu)
c.814C>G (p.Gln272Glu)
n.428+5472C>G
c.*549C>G (n.*549C>G)
c.847C>G (p.Gln283Glu)
c.205C>G (p.Gln69Glu)
19g.40605575C>TCA405933461LTBP4c.613C>T (p.Gln205Ter)
c.703C>T (p.Gln235Ter)
c.814C>T (p.Gln272Ter)
n.428+5472C>T
c.*549C>T (n.*549C>T)
c.847C>T (p.Gln283Ter)
c.205C>T (p.Gln69Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605576A>CCA405933463LTBP4c.614A>C (p.Gln205Pro)
c.704A>C (p.Gln235Pro)
c.815A>C (p.Gln272Pro)
n.428+5473A>C
c.*550A>C (n.*550A>C)
c.848A>C (p.Gln283Pro)
c.206A>C (p.Gln69Pro)
19g.40605576A>GCA405933465LTBP4c.614A>G (p.Gln205Arg)
c.704A>G (p.Gln235Arg)
c.815A>G (p.Gln272Arg)
n.428+5473A>G
c.*550A>G (n.*550A>G)
c.848A>G (p.Gln283Arg)
c.206A>G (p.Gln69Arg)
19g.40605576A>TCA405933467LTBP4c.614A>T (p.Gln205Leu)
c.704A>T (p.Gln235Leu)
c.815A>T (p.Gln272Leu)
n.428+5473A>T
c.*550A>T (n.*550A>T)
c.848A>T (p.Gln283Leu)
c.206A>T (p.Gln69Leu)
19g.40605576_40605594delCA2585156262LTBP4c.614_632del (p.Gln205ProfsTer?)
c.704_722del (p.Gln235ProfsTer?)
c.815_833del (p.Gln272ProfsTer?)
n.428+5473_428+5491del
c.*550_*568del (n.*550_*568del)
c.848_866del (p.Gln283ProfsTer?)
c.206_224del (p.Gln69ProfsTer?)
 gnomAD v4
19g.40605577G>ACA507684580LTBP4c.615G>A (p.Gln205=)
c.705G>A (p.Gln235=)
c.816G>A (p.Gln272=)
n.428+5474G>A
c.*551G>A (n.*551G>A)
c.849G>A (p.Gln283=)
c.207G>A (p.Gln69=)
19g.40605577G>CCA405933468LTBP4c.615G>C (p.Gln205His)
c.705G>C (p.Gln235His)
c.816G>C (p.Gln272His)
n.428+5474G>C
c.*551G>C (n.*551G>C)
c.849G>C (p.Gln283His)
c.207G>C (p.Gln69His)
19g.40605577G>TCA405933470LTBP4c.615G>T (p.Gln205His)
c.705G>T (p.Gln235His)
c.816G>T (p.Gln272His)
n.428+5474G>T
c.*551G>T (n.*551G>T)
c.849G>T (p.Gln283His)
c.207G>T (p.Gln69His)
19g.40605578A>CCA405933475LTBP4c.616A>C (p.Ser206Arg)
c.706A>C (p.Ser236Arg)
c.817A>C (p.Ser273Arg)
n.428+5475A>C
c.*552A>C (n.*552A>C)
c.850A>C (p.Ser284Arg)
c.208A>C (p.Ser70Arg)
19g.40605578A>GCA405933472LTBP4c.616A>G (p.Ser206Gly)
c.706A>G (p.Ser236Gly)
c.817A>G (p.Ser273Gly)
n.428+5475A>G
c.*552A>G (n.*552A>G)
c.850A>G (p.Ser284Gly)
c.208A>G (p.Ser70Gly)
 gnomAD v4
19g.40605578A>TCA405933473LTBP4c.616A>T (p.Ser206Cys)
c.706A>T (p.Ser236Cys)
c.817A>T (p.Ser273Cys)
n.428+5475A>T
c.*552A>T (n.*552A>T)
c.850A>T (p.Ser284Cys)
c.208A>T (p.Ser70Cys)
19g.40605579G>ACA405933477LTBP4c.617G>A (p.Ser206Asn)
c.707G>A (p.Ser236Asn)
c.818G>A (p.Ser273Asn)
n.428+5476G>A
c.*553G>A (n.*553G>A)
c.851G>A (p.Ser284Asn)
c.209G>A (p.Ser70Asn)
 gnomAD v4
19g.40605579G>CCA405933479LTBP4c.617G>C (p.Ser206Thr)
c.707G>C (p.Ser236Thr)
c.818G>C (p.Ser273Thr)
n.428+5476G>C
c.*553G>C (n.*553G>C)
c.851G>C (p.Ser284Thr)
c.209G>C (p.Ser70Thr)
19g.40605579G>TCA405933481LTBP4c.617G>T (p.Ser206Ile)
c.707G>T (p.Ser236Ile)
c.818G>T (p.Ser273Ile)
n.428+5476G>T
c.*553G>T (n.*553G>T)
c.851G>T (p.Ser284Ile)
c.209G>T (p.Ser70Ile)
19g.40605580C>ACA405933483LTBP4c.618C>A (p.Ser206Arg)
c.708C>A (p.Ser236Arg)
c.819C>A (p.Ser273Arg)
n.428+5477C>A
c.*554C>A (n.*554C>A)
c.852C>A (p.Ser284Arg)
c.210C>A (p.Ser70Arg)
 ClinVar
19g.40605580C=CA2336060073LTBP4c.618C= (p.Ser206=)
c.708C= (p.Ser236=)
c.819C= (p.Ser273=)
n.428+5477C=
c.*554C= (n.*554C=)
c.852C= (p.Ser284=)
c.210C= (p.Ser70=)
19g.40605580C>GCA405933485LTBP4c.618C>G (p.Ser206Arg)
c.708C>G (p.Ser236Arg)
c.819C>G (p.Ser273Arg)
n.428+5477C>G
c.*554C>G (n.*554C>G)
c.852C>G (p.Ser284Arg)
c.210C>G (p.Ser70Arg)
19g.40605580C>TCA507684581LTBP4c.618C>T (p.Ser206=)
c.708C>T (p.Ser236=)
c.819C>T (p.Ser273=)
n.428+5477C>T
c.*554C>T (n.*554C>T)
c.852C>T (p.Ser284=)
c.210C>T (p.Ser70=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605581G>ACA405933486LTBP4c.619G>A (p.Ala207Thr)
c.709G>A (p.Ala237Thr)
c.820G>A (p.Ala274Thr)
n.428+5478G>A
c.*555G>A (n.*555G>A)
c.853G>A (p.Ala285Thr)
c.211G>A (p.Ala71Thr)
 dbSNP gnomAD v2
19g.40605581G>CCA405933487LTBP4c.619G>C (p.Ala207Pro)
c.709G>C (p.Ala237Pro)
c.820G>C (p.Ala274Pro)
n.428+5478G>C
c.*555G>C (n.*555G>C)
c.853G>C (p.Ala285Pro)
c.211G>C (p.Ala71Pro)
19g.40605581G=CA2336060074LTBP4c.619G= (p.Ala207=)
c.709G= (p.Ala237=)
c.820G= (p.Ala274=)
n.428+5478G=
c.*555G= (n.*555G=)
c.853G= (p.Ala285=)
c.211G= (p.Ala71=)
19g.40605581G>TCA405933489LTBP4c.619G>T (p.Ala207Ser)
c.709G>T (p.Ala237Ser)
c.820G>T (p.Ala274Ser)
n.428+5478G>T
c.*555G>T (n.*555G>T)
c.853G>T (p.Ala285Ser)
c.211G>T (p.Ala71Ser)
 dbSNP
19g.40605582C>ACA405933491LTBP4c.620C>A (p.Ala207Glu)
c.710C>A (p.Ala237Glu)
c.821C>A (p.Ala274Glu)
n.428+5479C>A
c.*556C>A (n.*556C>A)
c.854C>A (p.Ala285Glu)
c.212C>A (p.Ala71Glu)
19g.40605582C=CA2336060075LTBP4c.620C= (p.Ala207=)
c.710C= (p.Ala237=)
c.821C= (p.Ala274=)
n.428+5479C=
c.*556C= (n.*556C=)
c.854C= (p.Ala285=)
c.212C= (p.Ala71=)
19g.40605582C>GCA405933492LTBP4c.620C>G (p.Ala207Gly)
c.710C>G (p.Ala237Gly)
c.821C>G (p.Ala274Gly)
n.428+5479C>G
c.*556C>G (n.*556C>G)
c.854C>G (p.Ala285Gly)
c.212C>G (p.Ala71Gly)
19g.40605582C>TCA9448076LTBP4c.620C>T (p.Ala207Val)
c.710C>T (p.Ala237Val)
c.821C>T (p.Ala274Val)
n.428+5479C>T
c.*556C>T (n.*556C>T)
c.854C>T (p.Ala285Val)
c.212C>T (p.Ala71Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605583G>ACA507684582LTBP4c.621G>A (p.Ala207=)
c.711G>A (p.Ala237=)
c.822G>A (p.Ala274=)
n.428+5480G>A
c.*557G>A (n.*557G>A)
c.855G>A (p.Ala285=)
c.213G>A (p.Ala71=)
19g.40605583G>CCA507684583LTBP4c.621G>C (p.Ala207=)
c.711G>C (p.Ala237=)
c.822G>C (p.Ala274=)
n.428+5480G>C
c.*557G>C (n.*557G>C)
c.855G>C (p.Ala285=)
c.213G>C (p.Ala71=)
19g.40605583G=CA2336060076LTBP4c.621G= (p.Ala207=)
c.711G= (p.Ala237=)
c.822G= (p.Ala274=)
n.428+5480G=
c.*557G= (n.*557G=)
c.855G= (p.Ala285=)
c.213G= (p.Ala71=)
19g.40605583G>TCA507684584LTBP4c.621G>T (p.Ala207=)
c.711G>T (p.Ala237=)
c.822G>T (p.Ala274=)
n.428+5480G>T
c.*557G>T (n.*557G>T)
c.855G>T (p.Ala285=)
c.213G>T (p.Ala71=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605584C>ACA405933498LTBP4c.622C>A (p.Pro208Thr)
c.712C>A (p.Pro238Thr)
c.823C>A (p.Pro275Thr)
n.428+5481C>A
c.*558C>A (n.*558C>A)
c.856C>A (p.Pro286Thr)
c.214C>A (p.Pro72Thr)
19g.40605584C=CA2336060077LTBP4c.622C= (p.Pro208=)
c.712C= (p.Pro238=)
c.823C= (p.Pro275=)
n.428+5481C=
c.*558C= (n.*558C=)
c.856C= (p.Pro286=)
c.214C= (p.Pro72=)
19g.40605584C>GCA405933496LTBP4c.622C>G (p.Pro208Ala)
c.712C>G (p.Pro238Ala)
c.823C>G (p.Pro275Ala)
n.428+5481C>G
c.*558C>G (n.*558C>G)
c.856C>G (p.Pro286Ala)
c.214C>G (p.Pro72Ala)
19g.40605584C>TCA308447773LTBP4c.622C>T (p.Pro208Ser)
c.712C>T (p.Pro238Ser)
c.823C>T (p.Pro275Ser)
n.428+5481C>T
c.*558C>T (n.*558C>T)
c.856C>T (p.Pro286Ser)
c.214C>T (p.Pro72Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605585C>ACA308447777LTBP4c.623C>A (p.Pro208Gln)
c.713C>A (p.Pro238Gln)
c.824C>A (p.Pro275Gln)
n.428+5482C>A
c.*559C>A (n.*559C>A)
c.857C>A (p.Pro286Gln)
c.215C>A (p.Pro72Gln)
 ClinVar dbSNP gnomAD v4
19g.40605585C=CA2336060078LTBP4c.623C= (p.Pro208=)
c.713C= (p.Pro238=)
c.824C= (p.Pro275=)
n.428+5482C=
c.*559C= (n.*559C=)
c.857C= (p.Pro286=)
c.215C= (p.Pro72=)
19g.40605585C>GCA405933501LTBP4c.623C>G (p.Pro208Arg)
c.713C>G (p.Pro238Arg)
c.824C>G (p.Pro275Arg)
n.428+5482C>G
c.*559C>G (n.*559C>G)
c.857C>G (p.Pro286Arg)
c.215C>G (p.Pro72Arg)
19g.40605585C>TCA405933503LTBP4c.623C>T (p.Pro208Leu)
c.713C>T (p.Pro238Leu)
c.824C>T (p.Pro275Leu)
n.428+5482C>T
c.*559C>T (n.*559C>T)
c.857C>T (p.Pro286Leu)
c.215C>T (p.Pro72Leu)
 gnomAD v4
19g.40605586G>ACA507684585LTBP4c.624G>A (p.Pro208=)
c.714G>A (p.Pro238=)
c.825G>A (p.Pro275=)
n.428+5483G>A
c.*560G>A (n.*560G>A)
c.858G>A (p.Pro286=)
c.216G>A (p.Pro72=)
 gnomAD v4
19g.40605586G>CCA507684586LTBP4c.624G>C (p.Pro208=)
c.714G>C (p.Pro238=)
c.825G>C (p.Pro275=)
n.428+5483G>C
c.*560G>C (n.*560G>C)
c.858G>C (p.Pro286=)
c.216G>C (p.Pro72=)
19g.40605586G>TCA507684587LTBP4c.624G>T (p.Pro208=)
c.714G>T (p.Pro238=)
c.825G>T (p.Pro275=)
n.428+5483G>T
c.*560G>T (n.*560G>T)
c.858G>T (p.Pro286=)
c.216G>T (p.Pro72=)
 gnomAD v4
19g.40605587C>ACA507684588LTBP4c.625C>A (p.Arg209=)
c.715C>A (p.Arg239=)
c.826C>A (p.Arg276=)
n.428+5484C>A
c.*561C>A (n.*561C>A)
c.859C>A (p.Arg287=)
c.217C>A (p.Arg73=)
19g.40605587C>GCA405933505LTBP4c.625C>G (p.Arg209Gly)
c.715C>G (p.Arg239Gly)
c.826C>G (p.Arg276Gly)
n.428+5484C>G
c.*561C>G (n.*561C>G)
c.859C>G (p.Arg287Gly)
c.217C>G (p.Arg73Gly)
19g.40605587C>TCA405933506LTBP4c.625C>T (p.Arg209Trp)
c.715C>T (p.Arg239Trp)
c.826C>T (p.Arg276Trp)
n.428+5484C>T
c.*561C>T (n.*561C>T)
c.859C>T (p.Arg287Trp)
c.217C>T (p.Arg73Trp)
19g.40605588G>ACA405933508LTBP4c.626G>A (p.Arg209Gln)
c.716G>A (p.Arg239Gln)
c.827G>A (p.Arg276Gln)
n.428+5485G>A
c.*562G>A (n.*562G>A)
c.860G>A (p.Arg287Gln)
c.218G>A (p.Arg73Gln)
19g.40605588G>CCA405933510LTBP4c.626G>C (p.Arg209Pro)
c.716G>C (p.Arg239Pro)
c.827G>C (p.Arg276Pro)
n.428+5485G>C
c.*562G>C (n.*562G>C)
c.860G>C (p.Arg287Pro)
c.218G>C (p.Arg73Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605588G=CA2336060079LTBP4c.626G= (p.Arg209=)
c.716G= (p.Arg239=)
c.827G= (p.Arg276=)
n.428+5485G=
c.*562G= (n.*562G=)
c.860G= (p.Arg287=)
c.218G= (p.Arg73=)
19g.40605588G>TCA405933512LTBP4c.626G>T (p.Arg209Leu)
c.716G>T (p.Arg239Leu)
c.827G>T (p.Arg276Leu)
n.428+5485G>T
c.*562G>T (n.*562G>T)
c.860G>T (p.Arg287Leu)
c.218G>T (p.Arg73Leu)
19g.40605589G>ACA507684589LTBP4c.627G>A (p.Arg209=)
c.717G>A (p.Arg239=)
c.828G>A (p.Arg276=)
n.428+5486G>A
c.*563G>A (n.*563G>A)
c.861G>A (p.Arg287=)
c.219G>A (p.Arg73=)
19g.40605589G>CCA507684591LTBP4c.627G>C (p.Arg209=)
c.717G>C (p.Arg239=)
c.828G>C (p.Arg276=)
n.428+5486G>C
c.*563G>C (n.*563G>C)
c.861G>C (p.Arg287=)
c.219G>C (p.Arg73=)
19g.40605589G>TCA507684590LTBP4c.627G>T (p.Arg209=)
c.717G>T (p.Arg239=)
c.828G>T (p.Arg276=)
n.428+5486G>T
c.*563G>T (n.*563G>T)
c.861G>T (p.Arg287=)
c.219G>T (p.Arg73=)
19g.40605590G>ACA405933514LTBP4c.628G>A (p.Glu210Lys)
c.718G>A (p.Glu240Lys)
c.829G>A (p.Glu277Lys)
n.428+5487G>A
c.*564G>A (n.*564G>A)
c.862G>A (p.Glu288Lys)
c.220G>A (p.Glu74Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40605590G>CCA405933515LTBP4c.628G>C (p.Glu210Gln)
c.718G>C (p.Glu240Gln)
c.829G>C (p.Glu277Gln)
n.428+5487G>C
c.*564G>C (n.*564G>C)
c.862G>C (p.Glu288Gln)
c.220G>C (p.Glu74Gln)
19g.40605590G=CA2336060080LTBP4c.628G= (p.Glu210=)
c.718G= (p.Glu240=)
c.829G= (p.Glu277=)
n.428+5487G=
c.*564G= (n.*564G=)
c.862G= (p.Glu288=)
c.220G= (p.Glu74=)
19g.40605590G>TCA405933517LTBP4c.628G>T (p.Glu210Ter)
c.718G>T (p.Glu240Ter)
c.829G>T (p.Glu277Ter)
n.428+5487G>T
c.*564G>T (n.*564G>T)
c.862G>T (p.Glu288Ter)
c.220G>T (p.Glu74Ter)
 gnomAD v4
19g.40605591A>CCA405933518LTBP4c.629A>C (p.Glu210Ala)
c.719A>C (p.Glu240Ala)
c.830A>C (p.Glu277Ala)
n.428+5488A>C
c.*565A>C (n.*565A>C)
c.863A>C (p.Glu288Ala)
c.221A>C (p.Glu74Ala)
19g.40605591A>GCA405933520LTBP4c.629A>G (p.Glu210Gly)
c.719A>G (p.Glu240Gly)
c.830A>G (p.Glu277Gly)
n.428+5488A>G
c.*565A>G (n.*565A>G)
c.863A>G (p.Glu288Gly)
c.221A>G (p.Glu74Gly)
19g.40605591A>TCA405933522LTBP4c.629A>T (p.Glu210Val)
c.719A>T (p.Glu240Val)
c.830A>T (p.Glu277Val)
n.428+5488A>T
c.*565A>T (n.*565A>T)
c.863A>T (p.Glu288Val)
c.221A>T (p.Glu74Val)
19g.40605592G>ACA507684592LTBP4c.630G>A (p.Glu210=)
c.720G>A (p.Glu240=)
c.831G>A (p.Glu277=)
n.428+5489G>A
c.*566G>A (n.*566G>A)
c.864G>A (p.Glu288=)
c.222G>A (p.Glu74=)
 dbSNP gnomAD v2
19g.40605592G>CCA405933524LTBP4c.630G>C (p.Glu210Asp)
c.720G>C (p.Glu240Asp)
c.831G>C (p.Glu277Asp)
n.428+5489G>C
c.*566G>C (n.*566G>C)
c.864G>C (p.Glu288Asp)
c.222G>C (p.Glu74Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.40605592G=CA2336060081LTBP4c.630G= (p.Glu210=)
c.720G= (p.Glu240=)
c.831G= (p.Glu277=)
n.428+5489G=
c.*566G= (n.*566G=)
c.864G= (p.Glu288=)
c.222G= (p.Glu74=)
19g.40605592G>TCA405933526LTBP4c.630G>T (p.Glu210Asp)
c.720G>T (p.Glu240Asp)
c.831G>T (p.Glu277Asp)
n.428+5489G>T
c.*566G>T (n.*566G>T)
c.864G>T (p.Glu288Asp)
c.222G>T (p.Glu74Asp)
 gnomAD v4
19g.40605593G>ACA405933528LTBP4c.631G>A (p.Asp211Asn)
c.721G>A (p.Asp241Asn)
c.832G>A (p.Asp278Asn)
n.428+5490G>A
c.*567G>A (n.*567G>A)
c.865G>A (p.Asp289Asn)
c.223G>A (p.Asp75Asn)
 dbSNP gnomAD v4
19g.40605593G>CCA405933529LTBP4c.631G>C (p.Asp211His)
c.721G>C (p.Asp241His)
c.832G>C (p.Asp278His)
n.428+5490G>C
c.*567G>C (n.*567G>C)
c.865G>C (p.Asp289His)
c.223G>C (p.Asp75His)
19g.40605593G=CA2336060082LTBP4c.631G= (p.Asp211=)
c.721G= (p.Asp241=)
c.832G= (p.Asp278=)
n.428+5490G=
c.*567G= (n.*567G=)
c.865G= (p.Asp289=)
c.223G= (p.Asp75=)
19g.40605593G>TCA405933530LTBP4c.631G>T (p.Asp211Tyr)
c.721G>T (p.Asp241Tyr)
c.832G>T (p.Asp278Tyr)
n.428+5490G>T
c.*567G>T (n.*567G>T)
c.865G>T (p.Asp289Tyr)
c.223G>T (p.Asp75Tyr)
19g.40605594A=CA2336060083LTBP4c.632A= (p.Asp211=)
c.722A= (p.Asp241=)
c.833A= (p.Asp278=)
n.428+5491A=
c.*568A= (n.*568A=)
c.866A= (p.Asp289=)
c.224A= (p.Asp75=)
19g.40605594A>CCA405933532LTBP4c.632A>C (p.Asp211Ala)
c.722A>C (p.Asp241Ala)
c.833A>C (p.Asp278Ala)
n.428+5491A>C
c.*568A>C (n.*568A>C)
c.866A>C (p.Asp289Ala)
c.224A>C (p.Asp75Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.40605594A>GCA308447779LTBP4c.632A>G (p.Asp211Gly)
c.722A>G (p.Asp241Gly)
c.833A>G (p.Asp278Gly)
n.428+5491A>G
c.*568A>G (n.*568A>G)
c.866A>G (p.Asp289Gly)
c.224A>G (p.Asp75Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605594A>TCA405933534LTBP4c.632A>T (p.Asp211Val)
c.722A>T (p.Asp241Val)
c.833A>T (p.Asp278Val)
n.428+5491A>T
c.*568A>T (n.*568A>T)
c.866A>T (p.Asp289Val)
c.224A>T (p.Asp75Val)
19g.40605595C>ACA405933537LTBP4c.633C>A (p.Asp211Glu)
c.723C>A (p.Asp241Glu)
c.834C>A (p.Asp278Glu)
n.428+5492C>A
c.*569C>A (n.*569C>A)
c.867C>A (p.Asp289Glu)
c.225C>A (p.Asp75Glu)
 gnomAD v4
19g.40605595C=CA2336060084LTBP4c.633C= (p.Asp211=)
c.723C= (p.Asp241=)
c.834C= (p.Asp278=)
n.428+5492C=
c.*569C= (n.*569C=)
c.867C= (p.Asp289=)
c.225C= (p.Asp75=)
19g.40605595C>GCA405933539LTBP4c.633C>G (p.Asp211Glu)
c.723C>G (p.Asp241Glu)
c.834C>G (p.Asp278Glu)
n.428+5492C>G
c.*569C>G (n.*569C>G)
c.867C>G (p.Asp289Glu)
c.225C>G (p.Asp75Glu)
19g.40605595C>TCA9448077LTBP4c.633C>T (p.Asp211=)
c.723C>T (p.Asp241=)
c.834C>T (p.Asp278=)
n.428+5492C>T
c.*569C>T (n.*569C>T)
c.867C>T (p.Asp289=)
c.225C>T (p.Asp75=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605596G>ACA9448078LTBP4c.634G>A (p.Gly212Ser)
c.724G>A (p.Gly242Ser)
c.835G>A (p.Gly279Ser)
n.428+5493G>A
c.*570G>A (n.*570G>A)
c.868G>A (p.Gly290Ser)
c.226G>A (p.Gly76Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605596G>CCA405933541LTBP4c.634G>C (p.Gly212Arg)
c.724G>C (p.Gly242Arg)
c.835G>C (p.Gly279Arg)
n.428+5493G>C
c.*570G>C (n.*570G>C)
c.868G>C (p.Gly290Arg)
c.226G>C (p.Gly76Arg)
 gnomAD v4
19g.40605596G=CA2336060085LTBP4c.634G= (p.Gly212=)
c.724G= (p.Gly242=)
c.835G= (p.Gly279=)
n.428+5493G=
c.*570G= (n.*570G=)
c.868G= (p.Gly290=)
c.226G= (p.Gly76=)
19g.40605596G>TCA405933542LTBP4c.634G>T (p.Gly212Cys)
c.724G>T (p.Gly242Cys)
c.835G>T (p.Gly279Cys)
n.428+5493G>T
c.*570G>T (n.*570G>T)
c.868G>T (p.Gly290Cys)
c.226G>T (p.Gly76Cys)
19g.40605597G>ACA405933543LTBP4c.635G>A (p.Gly212Asp)
c.725G>A (p.Gly242Asp)
c.836G>A (p.Gly279Asp)
n.428+5494G>A
c.*571G>A (n.*571G>A)
c.869G>A (p.Gly290Asp)
c.227G>A (p.Gly76Asp)
19g.40605597G>CCA405933547LTBP4c.635G>C (p.Gly212Ala)
c.725G>C (p.Gly242Ala)
c.836G>C (p.Gly279Ala)
n.428+5494G>C
c.*571G>C (n.*571G>C)
c.869G>C (p.Gly290Ala)
c.227G>C (p.Gly76Ala)
19g.40605597G=CA2336060086LTBP4c.635G= (p.Gly212=)
c.725G= (p.Gly242=)
c.836G= (p.Gly279=)
n.428+5494G=
c.*571G= (n.*571G=)
c.869G= (p.Gly290=)
c.227G= (p.Gly76=)
19g.40605597G>TCA405933545LTBP4c.635G>T (p.Gly212Val)
c.725G>T (p.Gly242Val)
c.836G>T (p.Gly279Val)
n.428+5494G>T
c.*571G>T (n.*571G>T)
c.869G>T (p.Gly290Val)
c.227G>T (p.Gly76Val)
 dbSNP gnomAD v4
19g.40605598C>ACA507684593LTBP4c.636C>A (p.Gly212=)
c.726C>A (p.Gly242=)
c.837C>A (p.Gly279=)
n.428+5495C>A
c.*572C>A (n.*572C>A)
c.870C>A (p.Gly290=)
c.228C>A (p.Gly76=)
 gnomAD v4
19g.40605598C=CA2336060087LTBP4c.636C= (p.Gly212=)
c.726C= (p.Gly242=)
c.837C= (p.Gly279=)
n.428+5495C=
c.*572C= (n.*572C=)
c.870C= (p.Gly290=)
c.228C= (p.Gly76=)
19g.40605598C>GCA507684594LTBP4c.636C>G (p.Gly212=)
c.726C>G (p.Gly242=)
c.837C>G (p.Gly279=)
n.428+5495C>G
c.*572C>G (n.*572C>G)
c.870C>G (p.Gly290=)
c.228C>G (p.Gly76=)
 gnomAD v4
19g.40605598C>TCA308447783LTBP4c.636C>T (p.Gly212=)
c.726C>T (p.Gly242=)
c.837C>T (p.Gly279=)
n.428+5495C>T
c.*572C>T (n.*572C>T)
c.870C>T (p.Gly290=)
c.228C>T (p.Gly76=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605599T>ACA405933549LTBP4c.637T>A (p.Tyr213Asn)
c.727T>A (p.Tyr243Asn)
c.838T>A (p.Tyr280Asn)
n.428+5496T>A
c.*573T>A (n.*573T>A)
c.871T>A (p.Tyr291Asn)
c.229T>A (p.Tyr77Asn)
19g.40605599T>CCA9448079LTBP4c.637T>C (p.Tyr213His)
c.727T>C (p.Tyr243His)
c.838T>C (p.Tyr280His)
n.428+5496T>C
c.*573T>C (n.*573T>C)
c.871T>C (p.Tyr291His)
c.229T>C (p.Tyr77His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605599T>GCA405933550LTBP4c.637T>G (p.Tyr213Asp)
c.727T>G (p.Tyr243Asp)
c.838T>G (p.Tyr280Asp)
n.428+5496T>G
c.*573T>G (n.*573T>G)
c.871T>G (p.Tyr291Asp)
c.229T>G (p.Tyr77Asp)
19g.40605599T=CA2336060088LTBP4c.637T= (p.Tyr213=)
c.727T= (p.Tyr243=)
c.838T= (p.Tyr280=)
n.428+5496T=
c.*573T= (n.*573T=)
c.871T= (p.Tyr291=)
c.229T= (p.Tyr77=)
19g.40605600A>CCA405933554LTBP4c.638A>C (p.Tyr213Ser)
c.728A>C (p.Tyr243Ser)
c.839A>C (p.Tyr280Ser)
n.428+5497A>C
c.*574A>C (n.*574A>C)
c.872A>C (p.Tyr291Ser)
c.230A>C (p.Tyr77Ser)
19g.40605600A>GCA405933558LTBP4c.638A>G (p.Tyr213Cys)
c.728A>G (p.Tyr243Cys)
c.839A>G (p.Tyr280Cys)
n.428+5497A>G
c.*574A>G (n.*574A>G)
c.872A>G (p.Tyr291Cys)
c.230A>G (p.Tyr77Cys)
19g.40605600A>TCA405933556LTBP4c.638A>T (p.Tyr213Phe)
c.728A>T (p.Tyr243Phe)
c.839A>T (p.Tyr280Phe)
n.428+5497A>T
c.*574A>T (n.*574A>T)
c.872A>T (p.Tyr291Phe)
c.230A>T (p.Tyr77Phe)
19g.40605601C>ACA405933560LTBP4c.639C>A (p.Tyr213Ter)
c.729C>A (p.Tyr243Ter)
c.840C>A (p.Tyr280Ter)
n.428+5498C>A
c.*575C>A (n.*575C>A)
c.873C>A (p.Tyr291Ter)
c.231C>A (p.Tyr77Ter)
19g.40605601C=CA2336060089LTBP4c.639C= (p.Tyr213=)
c.729C= (p.Tyr243=)
c.840C= (p.Tyr280=)
n.428+5498C=
c.*575C= (n.*575C=)
c.873C= (p.Tyr291=)
c.231C= (p.Tyr77=)
19g.40605601C>GCA405933562LTBP4c.639C>G (p.Tyr213Ter)
c.729C>G (p.Tyr243Ter)
c.840C>G (p.Tyr280Ter)
n.428+5498C>G
c.*575C>G (n.*575C>G)
c.873C>G (p.Tyr291Ter)
c.231C>G (p.Tyr77Ter)
19g.40605601C>TCA9448080LTBP4c.639C>T (p.Tyr213=)
c.729C>T (p.Tyr243=)
c.840C>T (p.Tyr280=)
n.428+5498C>T
c.*575C>T (n.*575C>T)
c.873C>T (p.Tyr291=)
c.231C>T (p.Tyr77=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605602T>ACA405933564LTBP4c.640T>A (p.Ser214Thr)
c.730T>A (p.Ser244Thr)
c.841T>A (p.Ser281Thr)
n.428+5499T>A
c.*576T>A (n.*576T>A)
c.874T>A (p.Ser292Thr)
c.232T>A (p.Ser78Thr)
19g.40605602T>CCA405933565LTBP4c.640T>C (p.Ser214Pro)
c.730T>C (p.Ser244Pro)
c.841T>C (p.Ser281Pro)
n.428+5499T>C
c.*576T>C (n.*576T>C)
c.874T>C (p.Ser292Pro)
c.232T>C (p.Ser78Pro)
19g.40605602T>GCA405933567LTBP4c.640T>G (p.Ser214Ala)
c.730T>G (p.Ser244Ala)
c.841T>G (p.Ser281Ala)
n.428+5499T>G
c.*576T>G (n.*576T>G)
c.874T>G (p.Ser292Ala)
c.232T>G (p.Ser78Ala)
19g.40605603C>ACA405933569LTBP4c.641C>A (p.Ser214Ter)
c.731C>A (p.Ser244Ter)
c.842C>A (p.Ser281Ter)
n.428+5500C>A
c.*577C>A (n.*577C>A)
c.875C>A (p.Ser292Ter)
c.233C>A (p.Ser78Ter)
 gnomAD v4
19g.40605603C>GCA405933571LTBP4c.641C>G (p.Ser214Ter)
c.731C>G (p.Ser244Ter)
c.842C>G (p.Ser281Ter)
n.428+5500C>G
c.*577C>G (n.*577C>G)
c.875C>G (p.Ser292Ter)
c.233C>G (p.Ser78Ter)
19g.40605603C>TCA405933573LTBP4c.641C>T (p.Ser214Leu)
c.731C>T (p.Ser244Leu)
c.842C>T (p.Ser281Leu)
n.428+5500C>T
c.*577C>T (n.*577C>T)
c.875C>T (p.Ser292Leu)
c.233C>T (p.Ser78Leu)
19g.40605604A>CCA507684595LTBP4c.642A>C (p.Ser214=)
c.732A>C (p.Ser244=)
c.843A>C (p.Ser281=)
n.428+5501A>C
c.*578A>C (n.*578A>C)
c.876A>C (p.Ser292=)
c.234A>C (p.Ser78=)
19g.40605604A>GCA507684596LTBP4c.642A>G (p.Ser214=)
c.732A>G (p.Ser244=)
c.843A>G (p.Ser281=)
n.428+5501A>G
c.*578A>G (n.*578A>G)
c.876A>G (p.Ser292=)
c.234A>G (p.Ser78=)
 gnomAD v4
19g.40605604A>TCA507684597LTBP4c.642A>T (p.Ser214=)
c.732A>T (p.Ser244=)
c.843A>T (p.Ser281=)
n.428+5501A>T
c.*578A>T (n.*578A>T)
c.876A>T (p.Ser292=)
c.234A>T (p.Ser78=)
19g.40605605G>ACA405933575LTBP4c.643G>A (p.Asp215Asn)
c.733G>A (p.Asp245Asn)
c.844G>A (p.Asp282Asn)
n.428+5502G>A
c.*579G>A (n.*579G>A)
c.877G>A (p.Asp293Asn)
c.235G>A (p.Asp79Asn)
 gnomAD v4
19g.40605605G>CCA405933577LTBP4c.643G>C (p.Asp215His)
c.733G>C (p.Asp245His)
c.844G>C (p.Asp282His)
n.428+5502G>C
c.*579G>C (n.*579G>C)
c.877G>C (p.Asp293His)
c.235G>C (p.Asp79His)
19g.40605605G=CA2336060090LTBP4c.643G= (p.Asp215=)
c.733G= (p.Asp245=)
c.844G= (p.Asp282=)
n.428+5502G=
c.*579G= (n.*579G=)
c.877G= (p.Asp293=)
c.235G= (p.Asp79=)
19g.40605605G>TCA405933578LTBP4c.643G>T (p.Asp215Tyr)
c.733G>T (p.Asp245Tyr)
c.844G>T (p.Asp282Tyr)
n.428+5502G>T
c.*579G>T (n.*579G>T)
c.877G>T (p.Asp293Tyr)
c.235G>T (p.Asp79Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605606A=CA2336060091LTBP4c.644A= (p.Asp215=)
c.734A= (p.Asp245=)
c.845A= (p.Asp282=)
n.428+5503A=
c.*580A= (n.*580A=)
c.878A= (p.Asp293=)
c.236A= (p.Asp79=)
19g.40605606A>CCA405933580LTBP4c.644A>C (p.Asp215Ala)
c.734A>C (p.Asp245Ala)
c.845A>C (p.Asp282Ala)
n.428+5503A>C
c.*580A>C (n.*580A>C)
c.878A>C (p.Asp293Ala)
c.236A>C (p.Asp79Ala)
19g.40605606A>GCA405933581LTBP4c.644A>G (p.Asp215Gly)
c.734A>G (p.Asp245Gly)
c.845A>G (p.Asp282Gly)
n.428+5503A>G
c.*580A>G (n.*580A>G)
c.878A>G (p.Asp293Gly)
c.236A>G (p.Asp79Gly)
19g.40605606A>TCA308447792LTBP4c.644A>T (p.Asp215Val)
c.734A>T (p.Asp245Val)
c.845A>T (p.Asp282Val)
n.428+5503A>T
c.*580A>T (n.*580A>T)
c.878A>T (p.Asp293Val)
c.236A>T (p.Asp79Val)
 dbSNP gnomAD v4
19g.40605607T>ACA405933584LTBP4c.645T>A (p.Asp215Glu)
c.735T>A (p.Asp245Glu)
c.846T>A (p.Asp282Glu)
n.428+5504T>A
c.879T>A (p.Asp293Glu)
c.237T>A (p.Asp79Glu)
19g.40605607T>CCA9448081LTBP4c.645T>C (p.Asp215=)
c.735T>C (p.Asp245=)
c.846T>C (p.Asp282=)
n.428+5504T>C
c.879T>C (p.Asp293=)
c.237T>C (p.Asp79=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605607T>GCA405933586LTBP4c.645T>G (p.Asp215Glu)
c.735T>G (p.Asp245Glu)
c.846T>G (p.Asp282Glu)
n.428+5504T>G
c.879T>G (p.Asp293Glu)
c.237T>G (p.Asp79Glu)
19g.40605607T=CA2336060092LTBP4c.645T= (p.Asp215=)
c.735T= (p.Asp245=)
c.846T= (p.Asp282=)
n.428+5504T=
c.879T= (p.Asp293=)
c.237T= (p.Asp79=)
19g.40605608G>ACA405933588LTBP4c.646G>A (p.Ala216Thr)
c.736G>A (p.Ala246Thr)
c.847G>A (p.Ala283Thr)
n.428+5505G>A
c.880G>A (p.Ala294Thr)
c.238G>A (p.Ala80Thr)
19g.40605608G>CCA405933590LTBP4c.646G>C (p.Ala216Pro)
c.736G>C (p.Ala246Pro)
c.847G>C (p.Ala283Pro)
n.428+5505G>C
c.880G>C (p.Ala294Pro)
c.238G>C (p.Ala80Pro)
19g.40605608G>TCA405933592LTBP4c.646G>T (p.Ala216Ser)
c.736G>T (p.Ala246Ser)
c.847G>T (p.Ala283Ser)
n.428+5505G>T
c.880G>T (p.Ala294Ser)
c.238G>T (p.Ala80Ser)
 gnomAD v4
19g.40605609C>ACA405933594LTBP4c.647C>A (p.Ala216Asp)
c.737C>A (p.Ala246Asp)
c.848C>A (p.Ala283Asp)
n.428+5506C>A
c.881C>A (p.Ala294Asp)
c.239C>A (p.Ala80Asp)
 gnomAD v4
19g.40605609C=CA2336060093LTBP4c.647C= (p.Ala216=)
c.737C= (p.Ala246=)
c.848C= (p.Ala283=)
n.428+5506C=
c.881C= (p.Ala294=)
c.239C= (p.Ala80=)
19g.40605609C>GCA405933595LTBP4c.647C>G (p.Ala216Gly)
c.737C>G (p.Ala246Gly)
c.848C>G (p.Ala283Gly)
n.428+5506C>G
c.881C>G (p.Ala294Gly)
c.239C>G (p.Ala80Gly)
19g.40605609C>TCA9448082LTBP4c.647C>T (p.Ala216Val)
c.737C>T (p.Ala246Val)
c.848C>T (p.Ala283Val)
n.428+5506C>T
c.881C>T (p.Ala294Val)
c.239C>T (p.Ala80Val)
 dbSNP ExAC gnomAD v4
19g.40605610C>ACA507684599LTBP4c.648C>A (p.Ala216=)
c.738C>A (p.Ala246=)
c.849C>A (p.Ala283=)
n.428+5507C>A
c.882C>A (p.Ala294=)
c.240C>A (p.Ala80=)
 gnomAD v4
19g.40605610C>GCA507684600LTBP4c.648C>G (p.Ala216=)
c.738C>G (p.Ala246=)
c.849C>G (p.Ala283=)
n.428+5507C>G
c.882C>G (p.Ala294=)
c.240C>G (p.Ala80=)
19g.40605610C>TCA507684598LTBP4c.648C>T (p.Ala216=)
c.738C>T (p.Ala246=)
c.849C>T (p.Ala283=)
n.428+5507C>T
c.882C>T (p.Ala294=)
c.240C>T (p.Ala80=)
19g.40605611T>ACA405933600LTBP4c.649T>A (p.Ser217Thr)
c.739T>A (p.Ser247Thr)
c.850T>A (p.Ser284Thr)
n.428+5508T>A
c.883T>A (p.Ser295Thr)
c.241T>A (p.Ser81Thr)
19g.40605611T>CCA405933601LTBP4c.649T>C (p.Ser217Pro)
c.739T>C (p.Ser247Pro)
c.850T>C (p.Ser284Pro)
n.428+5508T>C
c.883T>C (p.Ser295Pro)
c.241T>C (p.Ser81Pro)
 gnomAD v4
19g.40605611T>GCA405933598LTBP4c.649T>G (p.Ser217Ala)
c.739T>G (p.Ser247Ala)
c.850T>G (p.Ser284Ala)
n.428+5508T>G
c.883T>G (p.Ser295Ala)
c.241T>G (p.Ser81Ala)
19g.40605612C>ACA405933602LTBP4c.650C>A (p.Ser217Ter)
c.740C>A (p.Ser247Ter)
c.851C>A (p.Ser284Ter)
n.428+5509C>A
c.884C>A (p.Ser295Ter)
c.242C>A (p.Ser81Ter)
 gnomAD v4
19g.40605612C=CA2336060094LTBP4c.650C= (p.Ser217=)
c.740C= (p.Ser247=)
c.851C= (p.Ser284=)
n.428+5509C=
c.884C= (p.Ser295=)
c.242C= (p.Ser81=)
19g.40605612C>GCA405933604LTBP4c.650C>G (p.Ser217Trp)
c.740C>G (p.Ser247Trp)
c.851C>G (p.Ser284Trp)
n.428+5509C>G
c.884C>G (p.Ser295Trp)
c.242C>G (p.Ser81Trp)
 dbSNP gnomAD v3 gnomAD v4
19g.40605612C>TCA9448083LTBP4c.650C>T (p.Ser217Leu)
c.740C>T (p.Ser247Leu)
c.851C>T (p.Ser284Leu)
n.428+5509C>T
c.884C>T (p.Ser295Leu)
c.242C>T (p.Ser81Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605613G>ACA507684603LTBP4c.651G>A (p.Ser217=)
c.741G>A (p.Ser247=)
c.852G>A (p.Ser284=)
n.428+5510G>A
c.885G>A (p.Ser295=)
c.243G>A (p.Ser81=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605613G>CCA507684601LTBP4c.651G>C (p.Ser217=)
c.741G>C (p.Ser247=)
c.852G>C (p.Ser284=)
n.428+5510G>C
c.885G>C (p.Ser295=)
c.243G>C (p.Ser81=)
 dbSNP
19g.40605613G=CA2336060095LTBP4c.651G= (p.Ser217=)
c.741G= (p.Ser247=)
c.852G= (p.Ser284=)
n.428+5510G=
c.885G= (p.Ser295=)
c.243G= (p.Ser81=)
19g.40605613G>TCA507684602LTBP4c.651G>T (p.Ser217=)
c.741G>T (p.Ser247=)
c.852G>T (p.Ser284=)
n.428+5510G>T
c.885G>T (p.Ser295=)
c.243G>T (p.Ser81=)
 gnomAD v4
19g.40605614G>ACA405933607LTBP4c.652G>A (p.Gly218Ser)
c.742G>A (p.Gly248Ser)
c.853G>A (p.Gly285Ser)
n.428+5511G>A
c.886G>A (p.Gly296Ser)
c.244G>A (p.Gly82Ser)
 gnomAD v4
19g.40605614G>CCA405933609LTBP4c.652G>C (p.Gly218Arg)
c.742G>C (p.Gly248Arg)
c.853G>C (p.Gly285Arg)
n.428+5511G>C
c.886G>C (p.Gly296Arg)
c.244G>C (p.Gly82Arg)
19g.40605614G>TCA405933610LTBP4c.652G>T (p.Gly218Cys)
c.742G>T (p.Gly248Cys)
c.853G>T (p.Gly285Cys)
n.428+5511G>T
c.886G>T (p.Gly296Cys)
c.244G>T (p.Gly82Cys)
 gnomAD v4
19g.40605615G>ACA405933612LTBP4c.653G>A (p.Gly218Asp)
c.743G>A (p.Gly248Asp)
c.854G>A (p.Gly285Asp)
n.428+5512G>A
c.887G>A (p.Gly296Asp)
c.245G>A (p.Gly82Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40605615G>CCA405933614LTBP4c.653G>C (p.Gly218Ala)
c.743G>C (p.Gly248Ala)
c.854G>C (p.Gly285Ala)
n.428+5512G>C
c.887G>C (p.Gly296Ala)
c.245G>C (p.Gly82Ala)
19g.40605615G=CA2336060096LTBP4c.653G= (p.Gly218=)
c.743G= (p.Gly248=)
c.854G= (p.Gly285=)
n.428+5512G=
c.887G= (p.Gly296=)
c.245G= (p.Gly82=)
19g.40605615G>TCA405933615LTBP4c.653G>T (p.Gly218Val)
c.743G>T (p.Gly248Val)
c.854G>T (p.Gly285Val)
n.428+5512G>T
c.887G>T (p.Gly296Val)
c.245G>T (p.Gly82Val)
19g.40605616C>ACA507684604LTBP4c.654C>A (p.Gly218=)
c.744C>A (p.Gly248=)
c.855C>A (p.Gly285=)
n.428+5513C>A
c.888C>A (p.Gly296=)
c.246C>A (p.Gly82=)
 dbSNP gnomAD v4
19g.40605616C=CA2336060097LTBP4c.654C= (p.Gly218=)
c.744C= (p.Gly248=)
c.855C= (p.Gly285=)
n.428+5513C=
c.888C= (p.Gly296=)
c.246C= (p.Gly82=)
19g.40605616C>GCA507684606LTBP4c.654C>G (p.Gly218=)
c.744C>G (p.Gly248=)
c.855C>G (p.Gly285=)
n.428+5513C>G
c.888C>G (p.Gly296=)
c.246C>G (p.Gly82=)
19g.40605616C>TCA507684605LTBP4c.654C>T (p.Gly218=)
c.744C>T (p.Gly248=)
c.855C>T (p.Gly285=)
n.428+5513C>T
c.888C>T (p.Gly296=)
c.246C>T (p.Gly82=)
 dbSNP
19g.40605617T>ACA405933617LTBP4c.655T>A (p.Phe219Ile)
c.745T>A (p.Phe249Ile)
c.856T>A (p.Phe286Ile)
n.428+5514T>A
c.889T>A (p.Phe297Ile)
c.247T>A (p.Phe83Ile)
 dbSNP
19g.40605617T>CCA405933619LTBP4c.655T>C (p.Phe219Leu)
c.745T>C (p.Phe249Leu)
c.856T>C (p.Phe286Leu)
n.428+5514T>C
c.889T>C (p.Phe297Leu)
c.247T>C (p.Phe83Leu)
19g.40605617T>GCA405933621LTBP4c.655T>G (p.Phe219Val)
c.745T>G (p.Phe249Val)
c.856T>G (p.Phe286Val)
n.428+5514T>G
c.889T>G (p.Phe297Val)
c.247T>G (p.Phe83Val)
19g.40605617T=CA2336060098LTBP4c.655T= (p.Phe219=)
c.745T= (p.Phe249=)
c.856T= (p.Phe286=)
n.428+5514T=
c.889T= (p.Phe297=)
c.247T= (p.Phe83=)
19g.40605618T>ACA405933624LTBP4c.656T>A (p.Phe219Tyr)
c.746T>A (p.Phe249Tyr)
c.857T>A (p.Phe286Tyr)
n.428+5515T>A
c.890T>A (p.Phe297Tyr)
c.248T>A (p.Phe83Tyr)
 gnomAD v4
19g.40605618T>CCA405933626LTBP4c.656T>C (p.Phe219Ser)
c.746T>C (p.Phe249Ser)
c.857T>C (p.Phe286Ser)
n.428+5515T>C
c.890T>C (p.Phe297Ser)
c.248T>C (p.Phe83Ser)
19g.40605618T>GCA405933623LTBP4c.656T>G (p.Phe219Cys)
c.746T>G (p.Phe249Cys)
c.857T>G (p.Phe286Cys)
n.428+5515T>G
c.890T>G (p.Phe297Cys)
c.248T>G (p.Phe83Cys)
19g.40605619C>ACA405933628LTBP4c.657C>A (p.Phe219Leu)
c.747C>A (p.Phe249Leu)
c.858C>A (p.Phe286Leu)
n.428+5516C>A
c.891C>A (p.Phe297Leu)
c.249C>A (p.Phe83Leu)
 gnomAD v4
19g.40605619C>GCA405933629LTBP4c.657C>G (p.Phe219Leu)
c.747C>G (p.Phe249Leu)
c.858C>G (p.Phe286Leu)
n.428+5516C>G
c.891C>G (p.Phe297Leu)
c.249C>G (p.Phe83Leu)
19g.40605619C>TCA507684607LTBP4c.657C>T (p.Phe219=)
c.747C>T (p.Phe249=)
c.858C>T (p.Phe286=)
n.428+5516C>T
c.891C>T (p.Phe297=)
c.249C>T (p.Phe83=)
 gnomAD v4
19g.40605620G>ACA405933631LTBP4c.658G>A (p.Gly220Ser)
c.748G>A (p.Gly250Ser)
c.859G>A (p.Gly287Ser)
n.428+5517G>A
c.892G>A (p.Gly298Ser)
c.250G>A (p.Gly84Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605620G>CCA405933633LTBP4c.658G>C (p.Gly220Arg)
c.748G>C (p.Gly250Arg)
c.859G>C (p.Gly287Arg)
n.428+5517G>C
c.892G>C (p.Gly298Arg)
c.250G>C (p.Gly84Arg)
19g.40605620G=CA2336060099LTBP4c.658G= (p.Gly220=)
c.748G= (p.Gly250=)
c.859G= (p.Gly287=)
n.428+5517G=
c.892G= (p.Gly298=)
c.250G= (p.Gly84=)
19g.40605620G>TCA9448084LTBP4c.658G>T (p.Gly220Cys)
c.748G>T (p.Gly250Cys)
c.859G>T (p.Gly287Cys)
n.428+5517G>T
c.892G>T (p.Gly298Cys)
c.250G>T (p.Gly84Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605621G>ACA9448085LTBP4c.659G>A (p.Gly220Asp)
c.749G>A (p.Gly250Asp)
c.860G>A (p.Gly287Asp)
n.428+5518G>A
c.893G>A (p.Gly298Asp)
c.251G>A (p.Gly84Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605621G>CCA405933637LTBP4c.659G>C (p.Gly220Ala)
c.749G>C (p.Gly250Ala)
c.860G>C (p.Gly287Ala)
n.428+5518G>C
c.893G>C (p.Gly298Ala)
c.251G>C (p.Gly84Ala)
19g.40605621G=CA2336060100LTBP4c.659G= (p.Gly220=)
c.749G= (p.Gly250=)
c.860G= (p.Gly287=)
n.428+5518G=
c.893G= (p.Gly298=)
c.251G= (p.Gly84=)
19g.40605621G>TCA405933638LTBP4c.659G>T (p.Gly220Val)
c.749G>T (p.Gly250Val)
c.860G>T (p.Gly287Val)
n.428+5518G>T
c.893G>T (p.Gly298Val)
c.251G>T (p.Gly84Val)
19g.40605622T>ACA507684608LTBP4c.660T>A (p.Gly220=)
c.750T>A (p.Gly250=)
c.861T>A (p.Gly287=)
n.428+5519T>A
c.894T>A (p.Gly298=)
c.252T>A (p.Gly84=)
19g.40605622T>CCA507684609LTBP4c.660T>C (p.Gly220=)
c.750T>C (p.Gly250=)
c.861T>C (p.Gly287=)
n.428+5519T>C
c.894T>C (p.Gly298=)
c.252T>C (p.Gly84=)
19g.40605622T>GCA507684610LTBP4c.660T>G (p.Gly220=)
c.750T>G (p.Gly250=)
c.861T>G (p.Gly287=)
n.428+5519T>G
c.894T>G (p.Gly298=)
c.252T>G (p.Gly84=)
19g.40605623T>ACA405933641LTBP4c.661T>A (p.Tyr221Asn)
c.751T>A (p.Tyr251Asn)
c.862T>A (p.Tyr288Asn)
n.428+5520T>A
c.895T>A (p.Tyr299Asn)
c.253T>A (p.Tyr85Asn)
19g.40605623T>CCA405933642LTBP4c.661T>C (p.Tyr221His)
c.751T>C (p.Tyr251His)
c.862T>C (p.Tyr288His)
n.428+5520T>C
c.895T>C (p.Tyr299His)
c.253T>C (p.Tyr85His)
19g.40605623T>GCA405933644LTBP4c.661T>G (p.Tyr221Asp)
c.751T>G (p.Tyr251Asp)
c.862T>G (p.Tyr288Asp)
n.428+5520T>G
c.895T>G (p.Tyr299Asp)
c.253T>G (p.Tyr85Asp)
 gnomAD v4
19g.40605624A>CCA405933646LTBP4c.662A>C (p.Tyr221Ser)
c.752A>C (p.Tyr251Ser)
c.863A>C (p.Tyr288Ser)
n.428+5521A>C
c.896A>C (p.Tyr299Ser)
c.254A>C (p.Tyr85Ser)
19g.40605624A>GCA405933648LTBP4c.662A>G (p.Tyr221Cys)
c.752A>G (p.Tyr251Cys)
c.863A>G (p.Tyr288Cys)
n.428+5521A>G
c.896A>G (p.Tyr299Cys)
c.254A>G (p.Tyr85Cys)
19g.40605624A>TCA405933649LTBP4c.662A>T (p.Tyr221Phe)
c.752A>T (p.Tyr251Phe)
c.863A>T (p.Tyr288Phe)
n.428+5521A>T
c.896A>T (p.Tyr299Phe)
c.254A>T (p.Tyr85Phe)
19g.40605625C>ACA405933651LTBP4c.663C>A (p.Tyr221Ter)
c.753C>A (p.Tyr251Ter)
c.864C>A (p.Tyr288Ter)
n.428+5522C>A
c.897C>A (p.Tyr299Ter)
c.255C>A (p.Tyr85Ter)
 gnomAD v4
19g.40605625C=CA2336060101LTBP4c.663C= (p.Tyr221=)
c.753C= (p.Tyr251=)
c.864C= (p.Tyr288=)
n.428+5522C=
c.897C= (p.Tyr299=)
c.255C= (p.Tyr85=)
19g.40605625C>GCA405933653LTBP4c.663C>G (p.Tyr221Ter)
c.753C>G (p.Tyr251Ter)
c.864C>G (p.Tyr288Ter)
n.428+5522C>G
c.897C>G (p.Tyr299Ter)
c.255C>G (p.Tyr85Ter)
 gnomAD v4
19g.40605625C>TCA507684611LTBP4c.663C>T (p.Tyr221=)
c.753C>T (p.Tyr251=)
c.864C>T (p.Tyr288=)
n.428+5522C>T
c.897C>T (p.Tyr299=)
c.255C>T (p.Tyr85=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605626T>ACA405933655LTBP4c.664T>A (p.Cys222Ser)
c.754T>A (p.Cys252Ser)
c.865T>A (p.Cys289Ser)
n.428+5523T>A
c.898T>A (p.Cys300Ser)
c.256T>A (p.Cys86Ser)
 dbSNP
19g.40605626T>CCA405933658LTBP4c.664T>C (p.Cys222Arg)
c.754T>C (p.Cys252Arg)
c.865T>C (p.Cys289Arg)
n.428+5523T>C
c.898T>C (p.Cys300Arg)
c.256T>C (p.Cys86Arg)
 gnomAD v4
19g.40605626T>GCA405933657LTBP4c.664T>G (p.Cys222Gly)
c.754T>G (p.Cys252Gly)
c.865T>G (p.Cys289Gly)
n.428+5523T>G
c.898T>G (p.Cys300Gly)
c.256T>G (p.Cys86Gly)
19g.40605627G>ACA405933660LTBP4c.665G>A (p.Cys222Tyr)
c.755G>A (p.Cys252Tyr)
c.866G>A (p.Cys289Tyr)
n.428+5524G>A
c.899G>A (p.Cys300Tyr)
c.257G>A (p.Cys86Tyr)
 gnomAD v4
19g.40605627G>CCA405933662LTBP4c.665G>C (p.Cys222Ser)
c.755G>C (p.Cys252Ser)
c.866G>C (p.Cys289Ser)
n.428+5524G>C
c.899G>C (p.Cys300Ser)
c.257G>C (p.Cys86Ser)
19g.40605627G=CA2336060102LTBP4c.665G= (p.Cys222=)
c.755G= (p.Cys252=)
c.866G= (p.Cys289=)
n.428+5524G=
c.899G= (p.Cys300=)
c.257G= (p.Cys86=)
19g.40605627G>TCA9448086LTBP4c.665G>T (p.Cys222Phe)
c.755G>T (p.Cys252Phe)
c.866G>T (p.Cys289Phe)
n.428+5524G>T
c.899G>T (p.Cys300Phe)
c.257G>T (p.Cys86Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605628C>ACA405933664LTBP4c.666C>A (p.Cys222Ter)
c.756C>A (p.Cys252Ter)
c.867C>A (p.Cys289Ter)
n.428+5525C>A
c.900C>A (p.Cys300Ter)
c.258C>A (p.Cys86Ter)
 gnomAD v4
19g.40605628C>GCA405933666LTBP4c.666C>G (p.Cys222Trp)
c.756C>G (p.Cys252Trp)
c.867C>G (p.Cys289Trp)
n.428+5525C>G
c.900C>G (p.Cys300Trp)
c.258C>G (p.Cys86Trp)
19g.40605628C>TCA507684612LTBP4c.666C>T (p.Cys222=)
c.756C>T (p.Cys252=)
c.867C>T (p.Cys289=)
n.428+5525C>T
c.900C>T (p.Cys300=)
c.258C>T (p.Cys86=)
19g.40605629T>ACA405933668LTBP4c.667T>A (p.Phe223Ile)
c.757T>A (p.Phe253Ile)
c.868T>A (p.Phe290Ile)
n.428+5526T>A
c.901T>A (p.Phe301Ile)
c.259T>A (p.Phe87Ile)
19g.40605629T>CCA405933670LTBP4c.667T>C (p.Phe223Leu)
c.757T>C (p.Phe253Leu)
c.868T>C (p.Phe290Leu)
n.428+5526T>C
c.901T>C (p.Phe301Leu)
c.259T>C (p.Phe87Leu)
19g.40605629T>GCA405933671LTBP4c.667T>G (p.Phe223Val)
c.757T>G (p.Phe253Val)
c.868T>G (p.Phe290Val)
n.428+5526T>G
c.901T>G (p.Phe301Val)
c.259T>G (p.Phe87Val)
19g.40605630T>ACA405933673LTBP4c.668T>A (p.Phe223Tyr)
c.758T>A (p.Phe253Tyr)
c.869T>A (p.Phe290Tyr)
n.428+5527T>A
c.902T>A (p.Phe301Tyr)
c.260T>A (p.Phe87Tyr)
19g.40605630T>CCA405933675LTBP4c.668T>C (p.Phe223Ser)
c.758T>C (p.Phe253Ser)
c.869T>C (p.Phe290Ser)
n.428+5527T>C
c.902T>C (p.Phe301Ser)
c.260T>C (p.Phe87Ser)
19g.40605630T>GCA405933677LTBP4c.668T>G (p.Phe223Cys)
c.758T>G (p.Phe253Cys)
c.869T>G (p.Phe290Cys)
n.428+5527T>G
c.902T>G (p.Phe301Cys)
c.260T>G (p.Phe87Cys)
19g.40605631T>ACA405933678LTBP4c.669T>A (p.Phe223Leu)
c.759T>A (p.Phe253Leu)
c.870T>A (p.Phe290Leu)
n.428+5528T>A
c.903T>A (p.Phe301Leu)
c.261T>A (p.Phe87Leu)
19g.40605631T>CCA507684613LTBP4c.669T>C (p.Phe223=)
c.759T>C (p.Phe253=)
c.870T>C (p.Phe290=)
n.428+5528T>C
c.903T>C (p.Phe301=)
c.261T>C (p.Phe87=)
 gnomAD v4
19g.40605631T>GCA405933680LTBP4c.669T>G (p.Phe223Leu)
c.759T>G (p.Phe253Leu)
c.870T>G (p.Phe290Leu)
n.428+5528T>G
c.903T>G (p.Phe301Leu)
c.261T>G (p.Phe87Leu)
19g.40605632C>ACA507684614LTBP4c.670C>A (p.Arg224=)
c.760C>A (p.Arg254=)
c.871C>A (p.Arg291=)
n.428+5529C>A
c.904C>A (p.Arg302=)
c.262C>A (p.Arg88=)
 gnomAD v4
19g.40605632C>GCA405933682LTBP4c.670C>G (p.Arg224Gly)
c.760C>G (p.Arg254Gly)
c.871C>G (p.Arg291Gly)
n.428+5529C>G
c.904C>G (p.Arg302Gly)
c.262C>G (p.Arg88Gly)
 gnomAD v4
19g.40605632C>TCA405933684LTBP4c.670C>T (p.Arg224Trp)
c.760C>T (p.Arg254Trp)
c.871C>T (p.Arg291Trp)
n.428+5529C>T
c.904C>T (p.Arg302Trp)
c.262C>T (p.Arg88Trp)
 dbSNP
19g.40605633G>ACA405933686LTBP4c.671G>A (p.Arg224Gln)
c.761G>A (p.Arg254Gln)
c.872G>A (p.Arg291Gln)
n.428+5530G>A
c.905G>A (p.Arg302Gln)
c.263G>A (p.Arg88Gln)
 gnomAD v4
19g.40605633G>CCA405933688LTBP4c.671G>C (p.Arg224Pro)
c.761G>C (p.Arg254Pro)
c.872G>C (p.Arg291Pro)
n.428+5530G>C
c.905G>C (p.Arg302Pro)
c.263G>C (p.Arg88Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.40605633G=CA2336060103LTBP4c.671G= (p.Arg224=)
c.761G= (p.Arg254=)
c.872G= (p.Arg291=)
n.428+5530G=
c.905G= (p.Arg302=)
c.263G= (p.Arg88=)
19g.40605633G>TCA308447805LTBP4c.671G>T (p.Arg224Leu)
c.761G>T (p.Arg254Leu)
c.872G>T (p.Arg291Leu)
n.428+5530G>T
c.905G>T (p.Arg302Leu)
c.263G>T (p.Arg88Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.40605634G>ACA507684615LTBP4c.672G>A (p.Arg224=)
c.762G>A (p.Arg254=)
c.873G>A (p.Arg291=)
n.428+5531G>A
c.906G>A (p.Arg302=)
c.264G>A (p.Arg88=)
 dbSNP gnomAD v4
19g.40605634G>CCA507684616LTBP4c.672G>C (p.Arg224=)
c.762G>C (p.Arg254=)
c.873G>C (p.Arg291=)
n.428+5531G>C
c.906G>C (p.Arg302=)
c.264G>C (p.Arg88=)
19g.40605634G=CA2336060104LTBP4c.672G= (p.Arg224=)
c.762G= (p.Arg254=)
c.873G= (p.Arg291=)
n.428+5531G=
c.906G= (p.Arg302=)
c.264G= (p.Arg88=)
19g.40605634G>TCA507684617LTBP4c.672G>T (p.Arg224=)
c.762G>T (p.Arg254=)
c.873G>T (p.Arg291=)
n.428+5531G>T
c.906G>T (p.Arg302=)
c.264G>T (p.Arg88=)
 gnomAD v4
19g.40605635G>ACA9448087LTBP4c.673G>A (p.Glu225Lys)
c.763G>A (p.Glu255Lys)
c.874G>A (p.Glu292Lys)
n.428+5532G>A
c.907G>A (p.Glu303Lys)
c.265G>A (p.Glu89Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605635G>CCA405933691LTBP4c.673G>C (p.Glu225Gln)
c.763G>C (p.Glu255Gln)
c.874G>C (p.Glu292Gln)
n.428+5532G>C
c.907G>C (p.Glu303Gln)
c.265G>C (p.Glu89Gln)
19g.40605635G=CA2336060105LTBP4c.673G= (p.Glu225=)
c.763G= (p.Glu255=)
c.874G= (p.Glu292=)
n.428+5532G=
c.907G= (p.Glu303=)
c.265G= (p.Glu89=)
19g.40605635G>TCA405933692LTBP4c.673G>T (p.Glu225Ter)
c.763G>T (p.Glu255Ter)
c.874G>T (p.Glu292Ter)
n.428+5532G>T
c.907G>T (p.Glu303Ter)
c.265G>T (p.Glu89Ter)
19g.40605636A>CCA405933695LTBP4c.674A>C (p.Glu225Ala)
c.764A>C (p.Glu255Ala)
c.875A>C (p.Glu292Ala)
n.428+5533A>C
c.908A>C (p.Glu303Ala)
c.266A>C (p.Glu89Ala)
19g.40605636A>GCA405933696LTBP4c.674A>G (p.Glu225Gly)
c.764A>G (p.Glu255Gly)
c.875A>G (p.Glu292Gly)
n.428+5533A>G
c.908A>G (p.Glu303Gly)
c.266A>G (p.Glu89Gly)
19g.40605636A>TCA405933697LTBP4c.674A>T (p.Glu225Val)
c.764A>T (p.Glu255Val)
c.875A>T (p.Glu292Val)
n.428+5533A>T
c.908A>T (p.Glu303Val)
c.266A>T (p.Glu89Val)
19g.40605637G>ACA507684618LTBP4c.675G>A (p.Glu225=)
c.765G>A (p.Glu255=)
c.876G>A (p.Glu292=)
n.428+5534G>A
c.909G>A (p.Glu303=)
c.267G>A (p.Glu89=)
 gnomAD v4
19g.40605637G>CCA405933699LTBP4c.675G>C (p.Glu225Asp)
c.765G>C (p.Glu255Asp)
c.876G>C (p.Glu292Asp)
n.428+5534G>C
c.909G>C (p.Glu303Asp)
c.267G>C (p.Glu89Asp)
19g.40605637G>TCA405933700LTBP4c.675G>T (p.Glu225Asp)
c.765G>T (p.Glu255Asp)
c.876G>T (p.Glu292Asp)
n.428+5534G>T
c.909G>T (p.Glu303Asp)
c.267G>T (p.Glu89Asp)
19g.40605638C>ACA405933703LTBP4c.676C>A (p.Leu226Met)
c.766C>A (p.Leu256Met)
c.877C>A (p.Leu293Met)
n.428+5535C>A
c.910C>A (p.Leu304Met)
c.268C>A (p.Leu90Met)
 gnomAD v4
19g.40605638C>GCA405933702LTBP4c.676C>G (p.Leu226Val)
c.766C>G (p.Leu256Val)
c.877C>G (p.Leu293Val)
n.428+5535C>G
c.910C>G (p.Leu304Val)
c.268C>G (p.Leu90Val)
19g.40605638C>TCA507684619LTBP4c.676C>T (p.Leu226=)
c.766C>T (p.Leu256=)
c.877C>T (p.Leu293=)
n.428+5535C>T
c.910C>T (p.Leu304=)
c.268C>T (p.Leu90=)
 gnomAD v4
19g.40605639T>ACA405933705LTBP4c.677T>A (p.Leu226Gln)
c.767T>A (p.Leu256Gln)
c.878T>A (p.Leu293Gln)
n.428+5536T>A
c.911T>A (p.Leu304Gln)
c.269T>A (p.Leu90Gln)
19g.40605639T>CCA405933706LTBP4c.677T>C (p.Leu226Pro)
c.767T>C (p.Leu256Pro)
c.878T>C (p.Leu293Pro)
n.428+5536T>C
c.911T>C (p.Leu304Pro)
c.269T>C (p.Leu90Pro)
19g.40605639T>GCA405933708LTBP4c.677T>G (p.Leu226Arg)
c.767T>G (p.Leu256Arg)
c.878T>G (p.Leu293Arg)
n.428+5536T>G
c.911T>G (p.Leu304Arg)
c.269T>G (p.Leu90Arg)
19g.40605640G>ACA507684620LTBP4c.678G>A (p.Leu226=)
c.768G>A (p.Leu256=)
c.879G>A (p.Leu293=)
n.428+5537G>A
c.912G>A (p.Leu304=)
c.270G>A (p.Leu90=)
 gnomAD v4
19g.40605640G>CCA507684621LTBP4c.678G>C (p.Leu226=)
c.768G>C (p.Leu256=)
c.879G>C (p.Leu293=)
n.428+5537G>C
c.912G>C (p.Leu304=)
c.270G>C (p.Leu90=)
19g.40605640G>TCA507684622LTBP4c.678G>T (p.Leu226=)
c.768G>T (p.Leu256=)
c.879G>T (p.Leu293=)
n.428+5537G>T
c.912G>T (p.Leu304=)
c.270G>T (p.Leu90=)
 gnomAD v4
19g.40605641C>ACA405933709LTBP4c.679C>A (p.Arg227Ser)
c.769C>A (p.Arg257Ser)
c.880C>A (p.Arg294Ser)
n.428+5538C>A
c.913C>A (p.Arg305Ser)
c.271C>A (p.Arg91Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.40605641C=CA2336060106LTBP4c.679C= (p.Arg227=)
c.769C= (p.Arg257=)
c.880C= (p.Arg294=)
n.428+5538C=
c.913C= (p.Arg305=)
c.271C= (p.Arg91=)
19g.40605641C>GCA405933712LTBP4c.679C>G (p.Arg227Gly)
c.769C>G (p.Arg257Gly)
c.880C>G (p.Arg294Gly)
n.428+5538C>G
c.913C>G (p.Arg305Gly)
c.271C>G (p.Arg91Gly)
19g.40605641C>TCA308447822LTBP4c.679C>T (p.Arg227Cys)
c.769C>T (p.Arg257Cys)
c.880C>T (p.Arg294Cys)
n.428+5538C>T
c.913C>T (p.Arg305Cys)
c.271C>T (p.Arg91Cys)
 dbSNP gnomAD v4
19g.40605642G>ACA405933714LTBP4c.680G>A (p.Arg227His)
c.770G>A (p.Arg257His)
c.881G>A (p.Arg294His)
n.428+5539G>A
c.914G>A (p.Arg305His)
c.272G>A (p.Arg91His)
 dbSNP gnomAD v2 gnomAD v4
19g.40605642G>CCA405933715LTBP4c.680G>C (p.Arg227Pro)
c.770G>C (p.Arg257Pro)
c.881G>C (p.Arg294Pro)
n.428+5539G>C
c.914G>C (p.Arg305Pro)
c.272G>C (p.Arg91Pro)
19g.40605642G=CA2336060107LTBP4c.680G= (p.Arg227=)
c.770G= (p.Arg257=)
c.881G= (p.Arg294=)
n.428+5539G=
c.914G= (p.Arg305=)
c.272G= (p.Arg91=)
19g.40605642G>TCA405933716LTBP4c.680G>T (p.Arg227Leu)
c.770G>T (p.Arg257Leu)
c.881G>T (p.Arg294Leu)
n.428+5539G>T
c.914G>T (p.Arg305Leu)
c.272G>T (p.Arg91Leu)
 gnomAD v4
19g.40605643C>ACA507684623LTBP4c.681C>A (p.Arg227=)
c.771C>A (p.Arg257=)
c.882C>A (p.Arg294=)
n.428+5540C>A
c.915C>A (p.Arg305=)
c.273C>A (p.Arg91=)
 gnomAD v4
19g.40605643C=CA2336060108LTBP4c.681C= (p.Arg227=)
c.771C= (p.Arg257=)
c.882C= (p.Arg294=)
n.428+5540C=
c.915C= (p.Arg305=)
c.273C= (p.Arg91=)
19g.40605643C>GCA507684625LTBP4c.681C>G (p.Arg227=)
c.771C>G (p.Arg257=)
c.882C>G (p.Arg294=)
n.428+5540C>G
c.915C>G (p.Arg305=)
c.273C>G (p.Arg91=)
19g.40605643C>TCA507684624LTBP4c.681C>T (p.Arg227=)
c.771C>T (p.Arg257=)
c.882C>T (p.Arg294=)
n.428+5540C>T
c.915C>T (p.Arg305=)
c.273C>T (p.Arg91=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605644G>ACA405933718LTBP4c.682G>A (p.Gly228Arg)
c.772G>A (p.Gly258Arg)
c.883G>A (p.Gly295Arg)
n.428+5541G>A
c.916G>A (p.Gly306Arg)
c.274G>A (p.Gly92Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.40605644G>CCA308447828LTBP4c.682G>C (p.Gly228Arg)
c.772G>C (p.Gly258Arg)
c.883G>C (p.Gly295Arg)
n.428+5541G>C
c.916G>C (p.Gly306Arg)
c.274G>C (p.Gly92Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.40605644G=CA2336060109LTBP4c.682G= (p.Gly228=)
c.772G= (p.Gly258=)
c.883G= (p.Gly295=)
n.428+5541G=
c.916G= (p.Gly306=)
c.274G= (p.Gly92=)
19g.40605644G>TCA405933719LTBP4c.682G>T (p.Gly228Ter)
c.772G>T (p.Gly258Ter)
c.883G>T (p.Gly295Ter)
n.428+5541G>T
c.916G>T (p.Gly306Ter)
c.274G>T (p.Gly92Ter)
 gnomAD v4
19g.40605645G>ACA405933722LTBP4c.683G>A (p.Gly228Glu)
c.773G>A (p.Gly258Glu)
c.884G>A (p.Gly295Glu)
n.428+5542G>A
c.917G>A (p.Gly306Glu)
c.275G>A (p.Gly92Glu)
 gnomAD v4
19g.40605645G>CCA405933723LTBP4c.683G>C (p.Gly228Ala)
c.773G>C (p.Gly258Ala)
c.884G>C (p.Gly295Ala)
n.428+5542G>C
c.917G>C (p.Gly306Ala)
c.275G>C (p.Gly92Ala)
19g.40605645G>TCA405933721LTBP4c.683G>T (p.Gly228Val)
c.773G>T (p.Gly258Val)
c.884G>T (p.Gly295Val)
n.428+5542G>T
c.917G>T (p.Gly306Val)
c.275G>T (p.Gly92Val)
 gnomAD v4
19g.40605646A=CA2336060110LTBP4c.684A= (p.Gly228=)
c.774A= (p.Gly258=)
c.885A= (p.Gly295=)
n.428+5543A=
c.918A= (p.Gly306=)
c.276A= (p.Gly92=)
19g.40605646A>CCA308447830LTBP4c.684A>C (p.Gly228=)
c.774A>C (p.Gly258=)
c.885A>C (p.Gly295=)
n.428+5543A>C
c.918A>C (p.Gly306=)
c.276A>C (p.Gly92=)
 dbSNP gnomAD v4
19g.40605646A>GCA507684626LTBP4c.684A>G (p.Gly228=)
c.774A>G (p.Gly258=)
c.885A>G (p.Gly295=)
n.428+5543A>G
c.918A>G (p.Gly306=)
c.276A>G (p.Gly92=)
 gnomAD v4
19g.40605646A>TCA507684627LTBP4c.684A>T (p.Gly228=)
c.774A>T (p.Gly258=)
c.885A>T (p.Gly295=)
n.428+5543A>T
c.918A>T (p.Gly306=)
c.276A>T (p.Gly92=)
 gnomAD v4
19g.40605647G>ACA405933725LTBP4c.685G>A (p.Gly229Ser)
c.775G>A (p.Gly259Ser)
c.886G>A (p.Gly296Ser)
n.428+5544G>A
c.919G>A (p.Gly307Ser)
c.277G>A (p.Gly93Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605647G>CCA405933727LTBP4c.685G>C (p.Gly229Arg)
c.775G>C (p.Gly259Arg)
c.886G>C (p.Gly296Arg)
n.428+5544G>C
c.919G>C (p.Gly307Arg)
c.277G>C (p.Gly93Arg)
19g.40605647G=CA2336060111LTBP4c.685G= (p.Gly229=)
c.775G= (p.Gly259=)
c.886G= (p.Gly296=)
n.428+5544G=
c.919G= (p.Gly307=)
c.277G= (p.Gly93=)
19g.40605647G>TCA405933728LTBP4c.685G>T (p.Gly229Cys)
c.775G>T (p.Gly259Cys)
c.886G>T (p.Gly296Cys)
n.428+5544G>T
c.919G>T (p.Gly307Cys)
c.277G>T (p.Gly93Cys)
 gnomAD v4
19g.40605648G>ACA405933730LTBP4c.686G>A (p.Gly229Asp)
c.776G>A (p.Gly259Asp)
c.887G>A (p.Gly296Asp)
n.428+5545G>A
c.920G>A (p.Gly307Asp)
c.278G>A (p.Gly93Asp)
 gnomAD v4
19g.40605648G>CCA405933731LTBP4c.686G>C (p.Gly229Ala)
c.776G>C (p.Gly259Ala)
c.887G>C (p.Gly296Ala)
n.428+5545G>C
c.920G>C (p.Gly307Ala)
c.278G>C (p.Gly93Ala)
19g.40605648G>TCA405933733LTBP4c.686G>T (p.Gly229Val)
c.776G>T (p.Gly259Val)
c.887G>T (p.Gly296Val)
n.428+5545G>T
c.920G>T (p.Gly307Val)
c.278G>T (p.Gly93Val)
 gnomAD v4
19g.40605649C>ACA507684628LTBP4c.687C>A (p.Gly229=)
c.777C>A (p.Gly259=)
c.888C>A (p.Gly296=)
n.428+5546C>A
c.921C>A (p.Gly307=)
c.279C>A (p.Gly93=)
 gnomAD v4
19g.40605649C>GCA507684629LTBP4c.687C>G (p.Gly229=)
c.777C>G (p.Gly259=)
c.888C>G (p.Gly296=)
n.428+5546C>G
c.921C>G (p.Gly307=)
c.279C>G (p.Gly93=)
19g.40605649C>TCA507684630LTBP4c.687C>T (p.Gly229=)
c.777C>T (p.Gly259=)
c.888C>T (p.Gly296=)
n.428+5546C>T
c.921C>T (p.Gly307=)
c.279C>T (p.Gly93=)
19g.40605650G>ACA405933734LTBP4c.688G>A (p.Glu230Lys)
c.778G>A (p.Glu260Lys)
c.889G>A (p.Glu297Lys)
n.428+5547G>A
c.922G>A (p.Glu308Lys)
c.280G>A (p.Glu94Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.40605650G>CCA405933736LTBP4c.688G>C (p.Glu230Gln)
c.778G>C (p.Glu260Gln)
c.889G>C (p.Glu297Gln)
n.428+5547G>C
c.922G>C (p.Glu308Gln)
c.280G>C (p.Glu94Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.40605650G=CA2336060112LTBP4c.688G= (p.Glu230=)
c.778G= (p.Glu260=)
c.889G= (p.Glu297=)
n.428+5547G=
c.922G= (p.Glu308=)
c.280G= (p.Glu94=)
19g.40605650G>TCA405933735LTBP4c.688G>T (p.Glu230Ter)
c.778G>T (p.Glu260Ter)
c.889G>T (p.Glu297Ter)
n.428+5547G>T
c.922G>T (p.Glu308Ter)
c.280G>T (p.Glu94Ter)
 ClinVar gnomAD v4
19g.40605651A>CCA405933737LTBP4c.689A>C (p.Glu230Ala)
c.779A>C (p.Glu260Ala)
c.890A>C (p.Glu297Ala)
n.428+5548A>C
c.923A>C (p.Glu308Ala)
c.281A>C (p.Glu94Ala)
19g.40605651A>GCA405933738LTBP4c.689A>G (p.Glu230Gly)
c.779A>G (p.Glu260Gly)
c.890A>G (p.Glu297Gly)
n.428+5548A>G
c.923A>G (p.Glu308Gly)
c.281A>G (p.Glu94Gly)
19g.40605651A>TCA405933739LTBP4c.689A>T (p.Glu230Val)
c.779A>T (p.Glu260Val)
c.890A>T (p.Glu297Val)
n.428+5548A>T
c.923A>T (p.Glu308Val)
c.281A>T (p.Glu94Val)
19g.40605652A>CCA405933741LTBP4c.690A>C (p.Glu230Asp)
c.780A>C (p.Glu260Asp)
c.891A>C (p.Glu297Asp)
n.428+5549A>C
c.924A>C (p.Glu308Asp)
c.282A>C (p.Glu94Asp)
19g.40605652A>GCA507684631LTBP4c.690A>G (p.Glu230=)
c.780A>G (p.Glu260=)
c.891A>G (p.Glu297=)
n.428+5549A>G
c.924A>G (p.Glu308=)
c.282A>G (p.Glu94=)
 gnomAD v4
19g.40605652A>TCA405933742LTBP4c.690A>T (p.Glu230Asp)
c.780A>T (p.Glu260Asp)
c.891A>T (p.Glu297Asp)
n.428+5549A>T
c.924A>T (p.Glu308Asp)
c.282A>T (p.Glu94Asp)
 gnomAD v4
19g.40605653G>ACA405933745LTBP4c.690+1G>A (n.690+1G>A)
c.780+1G>A (n.780+1G>A)
c.891+1G>A (n.891+1G>A)
n.428+5550G>A
c.924+1G>A (n.924+1G>A)
c.282+1G>A (n.282+1G>A)
 gnomAD v4
19g.40605653G>CCA405933746LTBP4c.690+1G>C (n.690+1G>C)
c.780+1G>C (n.780+1G>C)
c.891+1G>C (n.891+1G>C)
n.428+5550G>C
c.924+1G>C (n.924+1G>C)
c.282+1G>C (n.282+1G>C)
 gnomAD v4
19g.40605653G>TCA405933744LTBP4c.690+1G>T (n.690+1G>T)
c.780+1G>T (n.780+1G>T)
c.891+1G>T (n.891+1G>T)
n.428+5550G>T
c.924+1G>T (n.924+1G>T)
c.282+1G>T (n.282+1G>T)
 gnomAD v4
19g.40605654T>ACA405933747LTBP4c.690+2T>A (n.690+2T>A)
c.780+2T>A (n.780+2T>A)
c.891+2T>A (n.891+2T>A)
n.428+5551T>A
c.924+2T>A (n.924+2T>A)
c.282+2T>A (n.282+2T>A)
19g.40605654T>CCA405933751LTBP4c.690+2T>C (n.690+2T>C)
c.780+2T>C (n.780+2T>C)
c.891+2T>C (n.891+2T>C)
n.428+5551T>C
c.924+2T>C (n.924+2T>C)
c.282+2T>C (n.282+2T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40605654T>GCA405933749LTBP4c.690+2T>G (n.690+2T>G)
c.780+2T>G (n.780+2T>G)
c.891+2T>G (n.891+2T>G)
n.428+5551T>G
c.924+2T>G (n.924+2T>G)
c.282+2T>G (n.282+2T>G)
19g.40605654T=CA2336060113LTBP4c.690+2T= (n.690+2T=)
c.780+2T= (n.780+2T=)
c.891+2T= (n.891+2T=)
n.428+5551T=
c.924+2T= (n.924+2T=)
c.282+2T= (n.282+2T=)
19g.40605655G>ACA2576787751LTBP4c.690+3G>A (n.690+3G>A)
c.780+3G>A (n.780+3G>A)
c.891+3G>A (n.891+3G>A)
n.428+5552G>A
c.924+3G>A (n.924+3G>A)
c.282+3G>A (n.282+3G>A)
 gnomAD v4
19g.40605655G>TCA2585156264LTBP4c.690+3G>T (n.690+3G>T)
c.780+3G>T (n.780+3G>T)
c.891+3G>T (n.891+3G>T)
n.428+5552G>T
c.924+3G>T (n.924+3G>T)
c.282+3G>T (n.282+3G>T)
 gnomAD v4
19g.40605658_40605659delCA2585156263LTBP4c.690+6_690+7del (n.690+6_690+7del)
c.780+6_780+7del (n.780+6_780+7del)
c.891+6_891+7del (n.891+6_891+7del)
n.428+5555_428+5556del
c.924+6_924+7del (n.924+6_924+7del)
c.282+6_282+7del (n.282+6_282+7del)
 gnomAD v4
19g.40605656A>GCA2585156265LTBP4c.690+4A>G (n.690+4A>G)
c.780+4A>G (n.780+4A>G)
c.891+4A>G (n.891+4A>G)
n.428+5553A>G
c.924+4A>G (n.924+4A>G)
c.282+4A>G (n.282+4A>G)
 gnomAD v4
19g.40605657G>TCA2585156267LTBP4c.690+5G>T (n.690+5G>T)
c.780+5G>T (n.780+5G>T)
c.891+5G>T (n.891+5G>T)
n.428+5554G>T
c.924+5G>T (n.924+5G>T)
c.282+5G>T (n.282+5G>T)
 gnomAD v4
19g.40605661_40605663delCA2585156266LTBP4c.690+9_690+11del (n.690+9_690+11del)
c.780+9_780+11del (n.780+9_780+11del)
c.891+9_891+11del (n.891+9_891+11del)
n.428+5558_428+5560del
c.924+9_924+11del (n.924+9_924+11del)
c.282+9_282+11del (n.282+9_282+11del)
 gnomAD v4
19g.40605658A=CA2336060114LTBP4c.690+6A= (n.690+6A=)
c.780+6A= (n.780+6A=)
c.891+6A= (n.891+6A=)
n.428+5555A=
c.924+6A= (n.924+6A=)
c.282+6A= (n.282+6A=)
19g.40605658A>CCA882257914LTBP4c.690+6A>C (n.690+6A>C)
c.780+6A>C (n.780+6A>C)
c.891+6A>C (n.891+6A>C)
n.428+5555A>C
c.924+6A>C (n.924+6A>C)
c.282+6A>C (n.282+6A>C)
 dbSNP gnomAD v4
19g.40605658A>GCA633466918LTBP4c.690+6A>G (n.690+6A>G)
c.780+6A>G (n.780+6A>G)
c.891+6A>G (n.891+6A>G)
n.428+5555A>G
c.924+6A>G (n.924+6A>G)
c.282+6A>G (n.282+6A>G)
 dbSNP gnomAD v2 gnomAD v4
19g.40605659G>ACA308447835LTBP4c.690+7G>A (n.690+7G>A)
c.780+7G>A (n.780+7G>A)
c.891+7G>A (n.891+7G>A)
n.428+5556G>A
c.924+7G>A (n.924+7G>A)
c.282+7G>A (n.282+7G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605659G>CCA995924648LTBP4c.690+7G>C (n.690+7G>C)
c.780+7G>C (n.780+7G>C)
c.891+7G>C (n.891+7G>C)
n.428+5556G>C
c.924+7G>C (n.924+7G>C)
c.282+7G>C (n.282+7G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.40605659G=CA2336060115LTBP4c.690+7G= (n.690+7G=)
c.780+7G= (n.780+7G=)
c.891+7G= (n.891+7G=)
n.428+5556G=
c.924+7G= (n.924+7G=)
c.282+7G= (n.282+7G=)
19g.40605660G>ACA2585156268LTBP4c.690+8G>A (n.690+8G>A)
c.780+8G>A (n.780+8G>A)
c.891+8G>A (n.891+8G>A)
n.428+5557G>A
c.924+8G>A (n.924+8G>A)
c.282+8G>A (n.282+8G>A)
 gnomAD v4
19g.40605661A=CA2336060116LTBP4c.690+9A= (n.690+9A=)
c.780+9A= (n.780+9A=)
c.891+9A= (n.891+9A=)
n.428+5558A=
c.924+9A= (n.924+9A=)
c.282+9A= (n.282+9A=)
19g.40605661A>TCA633466919LTBP4c.690+9A>T (n.690+9A>T)
c.780+9A>T (n.780+9A>T)
c.891+9A>T (n.891+9A>T)
n.428+5558A>T
c.924+9A>T (n.924+9A>T)
c.282+9A>T (n.282+9A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605662G>ACA2585156269LTBP4c.690+10G>A (n.690+10G>A)
c.780+10G>A (n.780+10G>A)
c.891+10G>A (n.891+10G>A)
n.428+5559G>A
c.924+10G>A (n.924+10G>A)
c.282+10G>A (n.282+10G>A)
 gnomAD v4
19g.40605662G>TCA2585156270LTBP4c.690+10G>T (n.690+10G>T)
c.780+10G>T (n.780+10G>T)
c.891+10G>T (n.891+10G>T)
n.428+5559G>T
c.924+10G>T (n.924+10G>T)
c.282+10G>T (n.282+10G>T)
 gnomAD v4
19g.40605663G>ACA2585156271LTBP4c.690+11G>A (n.690+11G>A)
c.780+11G>A (n.780+11G>A)
c.891+11G>A (n.891+11G>A)
n.428+5560G>A
c.924+11G>A (n.924+11G>A)
c.282+11G>A (n.282+11G>A)
 gnomAD v4
19g.40605663G>TCA2585156272LTBP4c.690+11G>T (n.690+11G>T)
c.780+11G>T (n.780+11G>T)
c.891+11G>T (n.891+11G>T)
n.428+5560G>T
c.924+11G>T (n.924+11G>T)
c.282+11G>T (n.282+11G>T)
 gnomAD v4
19g.40605664C=CA2336060117LTBP4c.690+12C= (n.690+12C=)
c.780+12C= (n.780+12C=)
c.891+12C= (n.891+12C=)
n.428+5561C=
c.924+12C= (n.924+12C=)
c.282+12C= (n.282+12C=)
19g.40605664C>TCA2336060118LTBP4c.690+12C>T (n.690+12C>T)
c.780+12C>T (n.780+12C>T)
c.891+12C>T (n.891+12C>T)
n.428+5561C>T
c.924+12C>T (n.924+12C>T)
c.282+12C>T (n.282+12C>T)
 ClinVar dbSNP gnomAD v4
19g.40605665C>ACA2585156273LTBP4c.690+13C>A (n.690+13C>A)
c.780+13C>A (n.780+13C>A)
c.891+13C>A (n.891+13C>A)
n.428+5562C>A
c.924+13C>A (n.924+13C>A)
c.282+13C>A (n.282+13C>A)
 gnomAD v4
19g.40605665C=CA2336060119LTBP4c.690+13C= (n.690+13C=)
c.780+13C= (n.780+13C=)
c.891+13C= (n.891+13C=)
n.428+5562C=
c.924+13C= (n.924+13C=)
c.282+13C= (n.282+13C=)
19g.40605665C>TCA2336060120LTBP4c.690+13C>T (n.690+13C>T)
c.780+13C>T (n.780+13C>T)
c.891+13C>T (n.891+13C>T)
n.428+5562C>T
c.924+13C>T (n.924+13C>T)
c.282+13C>T (n.282+13C>T)
 dbSNP gnomAD v4
19g.40605666C>ACA2576787752LTBP4c.690+14C>A (n.690+14C>A)
c.780+14C>A (n.780+14C>A)
c.891+14C>A (n.891+14C>A)
n.428+5563C>A
c.924+14C>A (n.924+14C>A)
c.282+14C>A (n.282+14C>A)
 gnomAD v4
19g.40605666C=CA2336060121LTBP4c.690+14C= (n.690+14C=)
c.780+14C= (n.780+14C=)
c.891+14C= (n.891+14C=)
n.428+5563C=
c.924+14C= (n.924+14C=)
c.282+14C= (n.282+14C=)
19g.40605666C>GCA308447843LTBP4c.690+14C>G (n.690+14C>G)
c.780+14C>G (n.780+14C>G)
c.891+14C>G (n.891+14C>G)
n.428+5563C>G
c.924+14C>G (n.924+14C>G)
c.282+14C>G (n.282+14C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605666C>TCA633466920LTBP4c.690+14C>T (n.690+14C>T)
c.780+14C>T (n.780+14C>T)
c.891+14C>T (n.891+14C>T)
n.428+5563C>T
c.924+14C>T (n.924+14C>T)
c.282+14C>T (n.282+14C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605667G>ACA2585156274LTBP4c.690+15G>A (n.690+15G>A)
c.780+15G>A (n.780+15G>A)
c.891+15G>A (n.891+15G>A)
n.428+5564G>A
c.924+15G>A (n.924+15G>A)
c.282+15G>A (n.282+15G>A)
 gnomAD v4
19g.40605667G>TCA2585156275LTBP4c.690+15G>T (n.690+15G>T)
c.780+15G>T (n.780+15G>T)
c.891+15G>T (n.891+15G>T)
n.428+5564G>T
c.924+15G>T (n.924+15G>T)
c.282+15G>T (n.282+15G>T)
 gnomAD v4
19g.40605668T=CA2336060122LTBP4c.690+16T= (n.690+16T=)
c.780+16T= (n.780+16T=)
c.891+16T= (n.891+16T=)
n.428+5565T=
c.924+16T= (n.924+16T=)
c.282+16T= (n.282+16T=)
19g.40605669G>ACA2585156276LTBP4c.690+17G>A (n.690+17G>A)
c.780+17G>A (n.780+17G>A)
c.891+17G>A (n.891+17G>A)
n.428+5566G>A
c.924+17G>A (n.924+17G>A)
c.282+17G>A (n.282+17G>A)
 gnomAD v4
19g.40605669G>CCA308447847LTBP4c.690+17G>C (n.690+17G>C)
c.780+17G>C (n.780+17G>C)
c.891+17G>C (n.891+17G>C)
n.428+5566G>C
c.924+17G>C (n.924+17G>C)
c.282+17G>C (n.282+17G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.40605669G=CA2336060123LTBP4c.690+17G= (n.690+17G=)
c.780+17G= (n.780+17G=)
c.891+17G= (n.891+17G=)
n.428+5566G=
c.924+17G= (n.924+17G=)
c.282+17G= (n.282+17G=)
19g.40605672dupCA633466921LTBP4c.690+20dup (n.690+20dup)
c.780+20dup (n.780+20dup)
c.891+20dup (n.891+20dup)
n.428+5569dup
c.924+20dup (n.924+20dup)
c.282+20dup (n.282+20dup)
 dbSNP gnomAD v2 gnomAD v4
19g.40605670G>ACA2585156277LTBP4c.690+18G>A (n.690+18G>A)
c.780+18G>A (n.780+18G>A)
c.891+18G>A (n.891+18G>A)
n.428+5567G>A
c.924+18G>A (n.924+18G>A)
c.282+18G>A (n.282+18G>A)
 gnomAD v4
19g.40605670G>TCA2585156278LTBP4c.690+18G>T (n.690+18G>T)
c.780+18G>T (n.780+18G>T)
c.891+18G>T (n.891+18G>T)
n.428+5567G>T
c.924+18G>T (n.924+18G>T)
c.282+18G>T (n.282+18G>T)
 gnomAD v4
19g.40605671G>ACA2576787753LTBP4c.690+19G>A (n.690+19G>A)
c.780+19G>A (n.780+19G>A)
c.891+19G>A (n.891+19G>A)
n.428+5568G>A
c.924+19G>A (n.924+19G>A)
c.282+19G>A (n.282+19G>A)
 gnomAD v4
19g.40605672G>CCA9448088LTBP4c.690+20G>C (n.690+20G>C)
c.780+20G>C (n.780+20G>C)
c.891+20G>C (n.891+20G>C)
n.428+5569G>C
c.924+20G>C (n.924+20G>C)
c.282+20G>C (n.282+20G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605672G=CA2336060124LTBP4c.690+20G= (n.690+20G=)
c.780+20G= (n.780+20G=)
c.891+20G= (n.891+20G=)
n.428+5569G=
c.924+20G= (n.924+20G=)
c.282+20G= (n.282+20G=)
19g.40605672G>TCA2585156279LTBP4c.690+20G>T (n.690+20G>T)
c.780+20G>T (n.780+20G>T)
c.891+20G>T (n.891+20G>T)
n.428+5569G>T
c.924+20G>T (n.924+20G>T)
c.282+20G>T (n.282+20G>T)
 gnomAD v4
19g.40605673A>GCA2585156280LTBP4c.690+21A>G (n.690+21A>G)
c.780+21A>G (n.780+21A>G)
c.891+21A>G (n.891+21A>G)
n.428+5570A>G
c.924+21A>G (n.924+21A>G)
c.282+21A>G (n.282+21A>G)
 gnomAD v4
19g.40605674G>ACA2585156281LTBP4c.690+22G>A (n.690+22G>A)
c.780+22G>A (n.780+22G>A)
c.891+22G>A (n.891+22G>A)
n.428+5571G>A
c.924+22G>A (n.924+22G>A)
c.282+22G>A (n.282+22G>A)
 gnomAD v4
19g.40605675G>CCA2585156282LTBP4c.690+23G>C (n.690+23G>C)
c.780+23G>C (n.780+23G>C)
c.891+23G>C (n.891+23G>C)
n.428+5572G>C
c.924+23G>C (n.924+23G>C)
c.282+23G>C (n.282+23G>C)
 gnomAD v4
19g.40605675G>TCA2585156283LTBP4c.690+23G>T (n.690+23G>T)
c.780+23G>T (n.780+23G>T)
c.891+23G>T (n.891+23G>T)
n.428+5572G>T
c.924+23G>T (n.924+23G>T)
c.282+23G>T (n.282+23G>T)
 gnomAD v4

Number of alleles fetched