Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89275143_89275154delCA658761825ANKRD11c.7511_7522del (p.Leu2504_Gln2507del)
c.*7314_*7325del (n.*7314_*7325del)
c.785_796del (p.Leu262_Gln265del)
c.192_203del
c.7409_7420del (p.Leu2470_Gln2473del)
c.7214_7225del (p.Leu2405_Gln2408del)
c.7382_7393del (p.Leu2461_Gln2464del)
16g.89275149A>CCA397147895ANKRD11c.7513T>G (p.Phe2505Val)
c.*7316T>G (n.*7316T>G)
c.787T>G (p.Phe263Val)
c.194T>G
c.7411T>G (p.Phe2471Val)
c.7216T>G (p.Phe2406Val)
c.7384T>G (p.Phe2462Val)
16g.89275149A>GCA397147894ANKRD11c.7513T>C (p.Phe2505Leu)
c.*7316T>C (n.*7316T>C)
c.787T>C (p.Phe263Leu)
c.194T>C
c.7411T>C (p.Phe2471Leu)
c.7216T>C (p.Phe2406Leu)
c.7384T>C (p.Phe2462Leu)
16g.89275149A>TCA397147893ANKRD11c.7513T>A (p.Phe2505Ile)
c.*7316T>A (n.*7316T>A)
c.787T>A (p.Phe263Ile)
c.194T>A
c.7411T>A (p.Phe2471Ile)
c.7216T>A (p.Phe2406Ile)
c.7384T>A (p.Phe2462Ile)
16g.89275150C>ACA497168585ANKRD11c.7512G>T (p.Leu2504=)
c.*7315G>T (n.*7315G>T)
c.786G>T (p.Leu262=)
c.193G>T
c.7410G>T (p.Leu2470=)
c.7215G>T (p.Leu2405=)
c.7383G>T (p.Leu2461=)
gnomAD v4
16g.89275150C=CA2241598793ANKRD11c.7512G= (p.Leu2504=)
c.*7315G= (n.*7315G=)
c.786G= (p.Leu262=)
c.193G=
c.7410G= (p.Leu2470=)
c.7215G= (p.Leu2405=)
c.7383G= (p.Leu2461=)
16g.89275150C>GCA497168588ANKRD11c.7512G>C (p.Leu2504=)
c.*7315G>C (n.*7315G>C)
c.786G>C (p.Leu262=)
c.193G>C
c.7410G>C (p.Leu2470=)
c.7215G>C (p.Leu2405=)
c.7383G>C (p.Leu2461=)
16g.89275150C>TCA8241121ANKRD11c.7512G>A (p.Leu2504=)
c.*7315G>A (n.*7315G>A)
c.786G>A (p.Leu262=)
c.193G>A
c.7410G>A (p.Leu2470=)
c.7215G>A (p.Leu2405=)
c.7383G>A (p.Leu2461=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275151A>CCA397147896ANKRD11c.7511T>G (p.Leu2504Arg)
c.*7314T>G (n.*7314T>G)
c.785T>G (p.Leu262Arg)
c.192T>G
c.7409T>G (p.Leu2470Arg)
c.7214T>G (p.Leu2405Arg)
c.7382T>G (p.Leu2461Arg)
16g.89275151A>GCA397147897ANKRD11c.7511T>C (p.Leu2504Pro)
c.*7314T>C (n.*7314T>C)
c.785T>C (p.Leu262Pro)
c.192T>C
c.7409T>C (p.Leu2470Pro)
c.7214T>C (p.Leu2405Pro)
c.7382T>C (p.Leu2461Pro)
16g.89275151A>TCA397147898ANKRD11c.7511T>A (p.Leu2504Gln)
c.*7314T>A (n.*7314T>A)
c.785T>A (p.Leu262Gln)
c.192T>A
c.7409T>A (p.Leu2470Gln)
c.7214T>A (p.Leu2405Gln)
c.7382T>A (p.Leu2461Gln)
16g.89275151_89275154dupCA2695223891ANKRD11c.7508_7511dup (p.Phe2505AlafsTer28)
c.*7311_*7314dup (n.*7311_*7314dup)
c.782_785dup (p.Phe263AlafsTer28)
c.189_192dup
c.7406_7409dup (p.Phe2471AlafsTer28)
c.7211_7214dup (p.Phe2406AlafsTer28)
c.7379_7382dup (p.Phe2462AlafsTer28)
16g.89275152G>ACA8241122ANKRD11c.7510C>T (p.Leu2504=)
c.*7313C>T (n.*7313C>T)
c.784C>T (p.Leu262=)
c.191C>T
c.7408C>T (p.Leu2470=)
c.7213C>T (p.Leu2405=)
c.7381C>T (p.Leu2461=)
dbSNP ExAC gnomAD v2
16g.89275152G>CCA397147899ANKRD11c.7510C>G (p.Leu2504Val)
c.*7313C>G (n.*7313C>G)
c.784C>G (p.Leu262Val)
c.191C>G
c.7408C>G (p.Leu2470Val)
c.7213C>G (p.Leu2405Val)
c.7381C>G (p.Leu2461Val)
16g.89275152G=CA2241598794ANKRD11c.7510C= (p.Leu2504=)
c.*7313C= (n.*7313C=)
c.784C= (p.Leu262=)
c.191C=
c.7408C= (p.Leu2470=)
c.7213C= (p.Leu2405=)
c.7381C= (p.Leu2461=)
16g.89275152G>TCA397147900ANKRD11c.7510C>A (p.Leu2504Met)
c.*7313C>A (n.*7313C>A)
c.784C>A (p.Leu262Met)
c.191C>A
c.7408C>A (p.Leu2470Met)
c.7213C>A (p.Leu2405Met)
c.7381C>A (p.Leu2461Met)
16g.89275153C>ACA397147901ANKRD11c.7509G>T (p.Glu2503Asp)
c.*7312G>T (n.*7312G>T)
c.783G>T (p.Glu261Asp)
c.190G>T
c.7407G>T (p.Glu2469Asp)
c.7212G>T (p.Glu2404Asp)
c.7380G>T (p.Glu2460Asp)
dbSNP gnomAD v4
16g.89275153C=CA2241598795ANKRD11c.7509G= (p.Glu2503=)
c.*7312G= (n.*7312G=)
c.783G= (p.Glu261=)
c.190G=
c.7407G= (p.Glu2469=)
c.7212G= (p.Glu2404=)
c.7380G= (p.Glu2460=)
16g.89275153C>GCA397147902ANKRD11c.7509G>C (p.Glu2503Asp)
c.*7312G>C (n.*7312G>C)
c.783G>C (p.Glu261Asp)
c.190G>C
c.7407G>C (p.Glu2469Asp)
c.7212G>C (p.Glu2404Asp)
c.7380G>C (p.Glu2460Asp)
16g.89275153C>TCA286505940ANKRD11c.7509G>A (p.Glu2503=)
c.*7312G>A (n.*7312G>A)
c.783G>A (p.Glu261=)
c.190G>A
c.7407G>A (p.Glu2469=)
c.7212G>A (p.Glu2404=)
c.7380G>A (p.Glu2460=)
dbSNP gnomAD v4
16g.89275154T>ACA397147903ANKRD11c.7508A>T (p.Glu2503Val)
c.*7311A>T (n.*7311A>T)
c.782A>T (p.Glu261Val)
c.189A>T
c.7406A>T (p.Glu2469Val)
c.7211A>T (p.Glu2404Val)
c.7379A>T (p.Glu2460Val)
16g.89275154T>CCA397147904ANKRD11c.7508A>G (p.Glu2503Gly)
c.*7311A>G (n.*7311A>G)
c.782A>G (p.Glu261Gly)
c.189A>G
c.7406A>G (p.Glu2469Gly)
c.7211A>G (p.Glu2404Gly)
c.7379A>G (p.Glu2460Gly)
16g.89275154T>GCA397147905ANKRD11c.7508A>C (p.Glu2503Ala)
c.*7311A>C (n.*7311A>C)
c.782A>C (p.Glu261Ala)
c.189A>C
c.7406A>C (p.Glu2469Ala)
c.7211A>C (p.Glu2404Ala)
c.7379A>C (p.Glu2460Ala)
16g.89275155C>ACA397147908ANKRD11c.7507G>T (p.Glu2503Ter)
c.*7310G>T (n.*7310G>T)
c.781G>T (p.Glu261Ter)
c.188G>T
c.7405G>T (p.Glu2469Ter)
c.7210G>T (p.Glu2404Ter)
c.7378G>T (p.Glu2460Ter)
16g.89275155C>GCA397147907ANKRD11c.7507G>C (p.Glu2503Gln)
c.*7310G>C (n.*7310G>C)
c.781G>C (p.Glu261Gln)
c.188G>C
c.7405G>C (p.Glu2469Gln)
c.7210G>C (p.Glu2404Gln)
c.7378G>C (p.Glu2460Gln)
gnomAD v4
16g.89275155C>TCA397147906ANKRD11c.7507G>A (p.Glu2503Lys)
c.*7310G>A (n.*7310G>A)
c.781G>A (p.Glu261Lys)
c.188G>A
c.7405G>A (p.Glu2469Lys)
c.7210G>A (p.Glu2404Lys)
c.7378G>A (p.Glu2460Lys)
16g.89275156C>ACA397147909ANKRD11c.7506G>T (p.Lys2502Asn)
c.*7309G>T (n.*7309G>T)
c.780G>T (p.Lys260Asn)
c.187G>T
c.7404G>T (p.Lys2468Asn)
c.7209G>T (p.Lys2403Asn)
c.7377G>T (p.Lys2459Asn)
16g.89275156C=CA2241598796ANKRD11c.7506G= (p.Lys2502=)
c.*7309G= (n.*7309G=)
c.780G= (p.Lys260=)
c.187G=
c.7404G= (p.Lys2468=)
c.7209G= (p.Lys2403=)
c.7377G= (p.Lys2459=)
16g.89275156C>GCA397147910ANKRD11c.7506G>C (p.Lys2502Asn)
c.*7309G>C (n.*7309G>C)
c.780G>C (p.Lys260Asn)
c.187G>C
c.7404G>C (p.Lys2468Asn)
c.7209G>C (p.Lys2403Asn)
c.7377G>C (p.Lys2459Asn)
16g.89275156C>TCA497168607ANKRD11c.7506G>A (p.Lys2502=)
c.*7309G>A (n.*7309G>A)
c.780G>A (p.Lys260=)
c.187G>A
c.7404G>A (p.Lys2468=)
c.7209G>A (p.Lys2403=)
c.7377G>A (p.Lys2459=)
dbSNP gnomAD v2 gnomAD v4
16g.89275157T>ACA397147911ANKRD11c.7505A>T (p.Lys2502Met)
c.*7308A>T (n.*7308A>T)
c.779A>T (p.Lys260Met)
c.186A>T
c.7403A>T (p.Lys2468Met)
c.7208A>T (p.Lys2403Met)
c.7376A>T (p.Lys2459Met)
16g.89275157T>CCA397147912ANKRD11c.7505A>G (p.Lys2502Arg)
c.*7308A>G (n.*7308A>G)
c.779A>G (p.Lys260Arg)
c.186A>G
c.7403A>G (p.Lys2468Arg)
c.7208A>G (p.Lys2403Arg)
c.7376A>G (p.Lys2459Arg)
dbSNP
16g.89275157T>GCA397147913ANKRD11c.7505A>C (p.Lys2502Thr)
c.*7308A>C (n.*7308A>C)
c.779A>C (p.Lys260Thr)
c.186A>C
c.7403A>C (p.Lys2468Thr)
c.7208A>C (p.Lys2403Thr)
c.7376A>C (p.Lys2459Thr)
16g.89275157T=CA2241598797ANKRD11c.7505A= (p.Lys2502=)
c.*7308A= (n.*7308A=)
c.779A= (p.Lys260=)
c.186A=
c.7403A= (p.Lys2468=)
c.7208A= (p.Lys2403=)
c.7376A= (p.Lys2459=)
16g.89275158T>ACA397147914ANKRD11c.7504A>T (p.Lys2502Ter)
c.*7307A>T (n.*7307A>T)
c.778A>T (p.Lys260Ter)
c.185A>T
c.7402A>T (p.Lys2468Ter)
c.7207A>T (p.Lys2403Ter)
c.7375A>T (p.Lys2459Ter)
16g.89275158T>CCA397147915ANKRD11c.7504A>G (p.Lys2502Glu)
c.*7307A>G (n.*7307A>G)
c.778A>G (p.Lys260Glu)
c.185A>G
c.7402A>G (p.Lys2468Glu)
c.7207A>G (p.Lys2403Glu)
c.7375A>G (p.Lys2459Glu)
ClinVar dbSNP gnomAD v4
16g.89275158T>GCA397147916ANKRD11c.7504A>C (p.Lys2502Gln)
c.*7307A>C (n.*7307A>C)
c.778A>C (p.Lys260Gln)
c.185A>C
c.7402A>C (p.Lys2468Gln)
c.7207A>C (p.Lys2403Gln)
c.7375A>C (p.Lys2459Gln)
16g.89275158T=CA2241598798ANKRD11c.7504A= (p.Lys2502=)
c.*7307A= (n.*7307A=)
c.778A= (p.Lys260=)
c.185A=
c.7402A= (p.Lys2468=)
c.7207A= (p.Lys2403=)
c.7375A= (p.Lys2459=)
16g.89275159C>ACA497168618ANKRD11c.7503G>T (p.Leu2501=)
c.*7306G>T (n.*7306G>T)
c.777G>T (p.Leu259=)
c.184G>T
c.7401G>T (p.Leu2467=)
c.7206G>T (p.Leu2402=)
c.7374G>T (p.Leu2458=)
16g.89275159C>GCA497168620ANKRD11c.7503G>C (p.Leu2501=)
c.*7306G>C (n.*7306G>C)
c.777G>C (p.Leu259=)
c.184G>C
c.7401G>C (p.Leu2467=)
c.7206G>C (p.Leu2402=)
c.7374G>C (p.Leu2458=)
16g.89275159C>TCA497168623ANKRD11c.7503G>A (p.Leu2501=)
c.*7306G>A (n.*7306G>A)
c.777G>A (p.Leu259=)
c.184G>A
c.7401G>A (p.Leu2467=)
c.7206G>A (p.Leu2402=)
c.7374G>A (p.Leu2458=)
16g.89275160A>CCA397147917ANKRD11c.7502T>G (p.Leu2501Arg)
c.*7305T>G (n.*7305T>G)
c.776T>G (p.Leu259Arg)
c.183T>G
c.7400T>G (p.Leu2467Arg)
c.7205T>G (p.Leu2402Arg)
c.7373T>G (p.Leu2458Arg)
16g.89275160A>GCA397147918ANKRD11c.7502T>C (p.Leu2501Pro)
c.*7305T>C (n.*7305T>C)
c.776T>C (p.Leu259Pro)
c.183T>C
c.7400T>C (p.Leu2467Pro)
c.7205T>C (p.Leu2402Pro)
c.7373T>C (p.Leu2458Pro)
gnomAD v4
16g.89275160A>TCA397147919ANKRD11c.7502T>A (p.Leu2501Gln)
c.*7305T>A (n.*7305T>A)
c.776T>A (p.Leu259Gln)
c.183T>A
c.7400T>A (p.Leu2467Gln)
c.7205T>A (p.Leu2402Gln)
c.7373T>A (p.Leu2458Gln)
16g.89275161G>ACA497168631ANKRD11c.7501C>T (p.Leu2501=)
c.*7304C>T (n.*7304C>T)
c.775C>T (p.Leu259=)
c.182C>T
c.7399C>T (p.Leu2467=)
c.7204C>T (p.Leu2402=)
c.7372C>T (p.Leu2458=)
dbSNP gnomAD v4
16g.89275161G>CCA397147920ANKRD11c.7501C>G (p.Leu2501Val)
c.*7304C>G (n.*7304C>G)
c.775C>G (p.Leu259Val)
c.182C>G
c.7399C>G (p.Leu2467Val)
c.7204C>G (p.Leu2402Val)
c.7372C>G (p.Leu2458Val)
gnomAD v4
16g.89275161G=CA2241598799ANKRD11c.7501C= (p.Leu2501=)
c.*7304C= (n.*7304C=)
c.775C= (p.Leu259=)
c.182C=
c.7399C= (p.Leu2467=)
c.7204C= (p.Leu2402=)
c.7372C= (p.Leu2458=)
16g.89275161G>TCA397147921ANKRD11c.7501C>A (p.Leu2501Met)
c.*7304C>A (n.*7304C>A)
c.775C>A (p.Leu259Met)
c.182C>A
c.7399C>A (p.Leu2467Met)
c.7204C>A (p.Leu2402Met)
c.7372C>A (p.Leu2458Met)
16g.89275162G>ACA497168635ANKRD11c.7500C>T (p.Pro2500=)
c.*7303C>T (n.*7303C>T)
c.774C>T (p.Pro258=)
c.181C>T
c.7398C>T (p.Pro2466=)
c.7203C>T (p.Pro2401=)
c.7371C>T (p.Pro2457=)
dbSNP gnomAD v4
16g.89275162G>CCA497168638ANKRD11c.7500C>G (p.Pro2500=)
c.*7303C>G (n.*7303C>G)
c.774C>G (p.Pro258=)
c.181C>G
c.7398C>G (p.Pro2466=)
c.7203C>G (p.Pro2401=)
c.7371C>G (p.Pro2457=)
16g.89275162G=CA2241598800ANKRD11c.7500C= (p.Pro2500=)
c.*7303C= (n.*7303C=)
c.774C= (p.Pro258=)
c.181C=
c.7398C= (p.Pro2466=)
c.7203C= (p.Pro2401=)
c.7371C= (p.Pro2457=)
16g.89275162G>TCA497168640ANKRD11c.7500C>A (p.Pro2500=)
c.*7303C>A (n.*7303C>A)
c.774C>A (p.Pro258=)
c.181C>A
c.7398C>A (p.Pro2466=)
c.7203C>A (p.Pro2401=)
c.7371C>A (p.Pro2457=)
16g.89275163G>ACA397147924ANKRD11c.7499C>T (p.Pro2500Leu)
c.*7302C>T (n.*7302C>T)
c.773C>T (p.Pro258Leu)
c.180C>T
c.7397C>T (p.Pro2466Leu)
c.7202C>T (p.Pro2401Leu)
c.7370C>T (p.Pro2457Leu)
gnomAD v4
16g.89275163G>CCA397147922ANKRD11c.7499C>G (p.Pro2500Arg)
c.*7302C>G (n.*7302C>G)
c.773C>G (p.Pro258Arg)
c.180C>G
c.7397C>G (p.Pro2466Arg)
c.7202C>G (p.Pro2401Arg)
c.7370C>G (p.Pro2457Arg)
16g.89275163G>TCA397147923ANKRD11c.7499C>A (p.Pro2500His)
c.*7302C>A (n.*7302C>A)
c.773C>A (p.Pro258His)
c.180C>A
c.7397C>A (p.Pro2466His)
c.7202C>A (p.Pro2401His)
c.7370C>A (p.Pro2457His)
16g.89275164G>ACA8241123ANKRD11c.7498C>T (p.Pro2500Ser)
c.*7301C>T (n.*7301C>T)
c.772C>T (p.Pro258Ser)
c.179C>T
c.7396C>T (p.Pro2466Ser)
c.7201C>T (p.Pro2401Ser)
c.7369C>T (p.Pro2457Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275164G>CCA397147925ANKRD11c.7498C>G (p.Pro2500Ala)
c.*7301C>G (n.*7301C>G)
c.772C>G (p.Pro258Ala)
c.179C>G
c.7396C>G (p.Pro2466Ala)
c.7201C>G (p.Pro2401Ala)
c.7369C>G (p.Pro2457Ala)
16g.89275164G=CA2241598801ANKRD11c.7498C= (p.Pro2500=)
c.*7301C= (n.*7301C=)
c.772C= (p.Pro258=)
c.179C=
c.7396C= (p.Pro2466=)
c.7201C= (p.Pro2401=)
c.7369C= (p.Pro2457=)
16g.89275164G>TCA397147926ANKRD11c.7498C>A (p.Pro2500Thr)
c.*7301C>A (n.*7301C>A)
c.772C>A (p.Pro258Thr)
c.179C>A
c.7396C>A (p.Pro2466Thr)
c.7201C>A (p.Pro2401Thr)
c.7369C>A (p.Pro2457Thr)
gnomAD v4
16g.89275165C>ACA397147927ANKRD11c.7497G>T (p.Glu2499Asp)
c.*7300G>T (n.*7300G>T)
c.771G>T (p.Glu257Asp)
c.178G>T
c.7395G>T (p.Glu2465Asp)
c.7200G>T (p.Glu2400Asp)
c.7368G>T (p.Glu2456Asp)
dbSNP
16g.89275165C=CA2241598802ANKRD11c.7497G= (p.Glu2499=)
c.*7300G= (n.*7300G=)
c.771G= (p.Glu257=)
c.178G=
c.7395G= (p.Glu2465=)
c.7200G= (p.Glu2400=)
c.7368G= (p.Glu2456=)
16g.89275165C>GCA397147928ANKRD11c.7497G>C (p.Glu2499Asp)
c.*7300G>C (n.*7300G>C)
c.771G>C (p.Glu257Asp)
c.178G>C
c.7395G>C (p.Glu2465Asp)
c.7200G>C (p.Glu2400Asp)
c.7368G>C (p.Glu2456Asp)
16g.89275165C>TCA497168652ANKRD11c.7497G>A (p.Glu2499=)
c.*7300G>A (n.*7300G>A)
c.771G>A (p.Glu257=)
c.178G>A
c.7395G>A (p.Glu2465=)
c.7200G>A (p.Glu2400=)
c.7368G>A (p.Glu2456=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275166T>ACA397147929ANKRD11c.7496A>T (p.Glu2499Val)
c.*7299A>T (n.*7299A>T)
c.770A>T (p.Glu257Val)
c.177A>T
c.7394A>T (p.Glu2465Val)
c.7199A>T (p.Glu2400Val)
c.7367A>T (p.Glu2456Val)
16g.89275166T>CCA397147930ANKRD11c.7496A>G (p.Glu2499Gly)
c.*7299A>G (n.*7299A>G)
c.770A>G (p.Glu257Gly)
c.177A>G
c.7394A>G (p.Glu2465Gly)
c.7199A>G (p.Glu2400Gly)
c.7367A>G (p.Glu2456Gly)
16g.89275166T>GCA397147931ANKRD11c.7496A>C (p.Glu2499Ala)
c.*7299A>C (n.*7299A>C)
c.770A>C (p.Glu257Ala)
c.177A>C
c.7394A>C (p.Glu2465Ala)
c.7199A>C (p.Glu2400Ala)
c.7367A>C (p.Glu2456Ala)
16g.89275167C>ACA397147932ANKRD11c.7495G>T (p.Glu2499Ter)
c.*7298G>T (n.*7298G>T)
c.769G>T (p.Glu257Ter)
c.176G>T
c.7393G>T (p.Glu2465Ter)
c.7198G>T (p.Glu2400Ter)
c.7366G>T (p.Glu2456Ter)
16g.89275167C>GCA397147933ANKRD11c.7495G>C (p.Glu2499Gln)
c.*7298G>C (n.*7298G>C)
c.769G>C (p.Glu257Gln)
c.176G>C
c.7393G>C (p.Glu2465Gln)
c.7198G>C (p.Glu2400Gln)
c.7366G>C (p.Glu2456Gln)
16g.89275167C>TCA397147934ANKRD11c.7495G>A (p.Glu2499Lys)
c.*7298G>A (n.*7298G>A)
c.769G>A (p.Glu257Lys)
c.176G>A
c.7393G>A (p.Glu2465Lys)
c.7198G>A (p.Glu2400Lys)
c.7366G>A (p.Glu2456Lys)
16g.89275168C>ACA497168663ANKRD11c.7494G>T (p.Ala2498=)
c.*7297G>T (n.*7297G>T)
c.768G>T (p.Ala256=)
c.175G>T
c.7392G>T (p.Ala2464=)
c.7197G>T (p.Ala2399=)
c.7365G>T (p.Ala2455=)
16g.89275168C=CA2241598803ANKRD11c.7494G= (p.Ala2498=)
c.*7297G= (n.*7297G=)
c.768G= (p.Ala256=)
c.175G=
c.7392G= (p.Ala2464=)
c.7197G= (p.Ala2399=)
c.7365G= (p.Ala2455=)
16g.89275168C>GCA497168666ANKRD11c.7494G>C (p.Ala2498=)
c.*7297G>C (n.*7297G>C)
c.768G>C (p.Ala256=)
c.175G>C
c.7392G>C (p.Ala2464=)
c.7197G>C (p.Ala2399=)
c.7365G>C (p.Ala2455=)
16g.89275168C>TCA8241124ANKRD11c.7494G>A (p.Ala2498=)
c.*7297G>A (n.*7297G>A)
c.768G>A (p.Ala256=)
c.175G>A
c.7392G>A (p.Ala2464=)
c.7197G>A (p.Ala2399=)
c.7365G>A (p.Ala2455=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275169G>ACA397147935ANKRD11c.7493C>T (p.Ala2498Val)
c.*7296C>T (n.*7296C>T)
c.767C>T (p.Ala256Val)
c.174C>T
c.7391C>T (p.Ala2464Val)
c.7196C>T (p.Ala2399Val)
c.7364C>T (p.Ala2455Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89275169G>CCA397147936ANKRD11c.7493C>G (p.Ala2498Gly)
c.*7296C>G (n.*7296C>G)
c.767C>G (p.Ala256Gly)
c.174C>G
c.7391C>G (p.Ala2464Gly)
c.7196C>G (p.Ala2399Gly)
c.7364C>G (p.Ala2455Gly)
16g.89275169G=CA2241598804ANKRD11c.7493C= (p.Ala2498=)
c.*7296C= (n.*7296C=)
c.767C= (p.Ala256=)
c.174C=
c.7391C= (p.Ala2464=)
c.7196C= (p.Ala2399=)
c.7364C= (p.Ala2455=)
16g.89275169G>TCA286505942ANKRD11c.7493C>A (p.Ala2498Glu)
c.*7296C>A (n.*7296C>A)
c.767C>A (p.Ala256Glu)
c.174C>A
c.7391C>A (p.Ala2464Glu)
c.7196C>A (p.Ala2399Glu)
c.7364C>A (p.Ala2455Glu)
dbSNP
16g.89275170C>ACA397147937ANKRD11c.7492G>T (p.Ala2498Ser)
c.*7295G>T (n.*7295G>T)
c.766G>T (p.Ala256Ser)
c.173G>T
c.7390G>T (p.Ala2464Ser)
c.7195G>T (p.Ala2399Ser)
c.7363G>T (p.Ala2455Ser)
16g.89275170C>GCA397147939ANKRD11c.7492G>C (p.Ala2498Pro)
c.*7295G>C (n.*7295G>C)
c.766G>C (p.Ala256Pro)
c.173G>C
c.7390G>C (p.Ala2464Pro)
c.7195G>C (p.Ala2399Pro)
c.7363G>C (p.Ala2455Pro)
16g.89275170C>TCA397147938ANKRD11c.7492G>A (p.Ala2498Thr)
c.*7295G>A (n.*7295G>A)
c.766G>A (p.Ala256Thr)
c.173G>A
c.7390G>A (p.Ala2464Thr)
c.7195G>A (p.Ala2399Thr)
c.7363G>A (p.Ala2455Thr)
16g.89275171C>ACA497168681ANKRD11c.7491G>T (p.Leu2497=)
c.*7294G>T (n.*7294G>T)
c.765G>T (p.Leu255=)
c.172G>T
c.7389G>T (p.Leu2463=)
c.7194G>T (p.Leu2398=)
c.7362G>T (p.Leu2454=)
16g.89275171C>GCA497168677ANKRD11c.7491G>C (p.Leu2497=)
c.*7294G>C (n.*7294G>C)
c.765G>C (p.Leu255=)
c.172G>C
c.7389G>C (p.Leu2463=)
c.7194G>C (p.Leu2398=)
c.7362G>C (p.Leu2454=)
16g.89275171C>TCA497168679ANKRD11c.7491G>A (p.Leu2497=)
c.*7294G>A (n.*7294G>A)
c.765G>A (p.Leu255=)
c.172G>A
c.7389G>A (p.Leu2463=)
c.7194G>A (p.Leu2398=)
c.7362G>A (p.Leu2454=)
ClinVar gnomAD v4
16g.89275172A>CCA397147940ANKRD11c.7490T>G (p.Leu2497Arg)
c.*7293T>G (n.*7293T>G)
c.764T>G (p.Leu255Arg)
c.171T>G
c.7388T>G (p.Leu2463Arg)
c.7193T>G (p.Leu2398Arg)
c.7361T>G (p.Leu2454Arg)
16g.89275172A>GCA397147942ANKRD11c.7490T>C (p.Leu2497Pro)
c.*7293T>C (n.*7293T>C)
c.764T>C (p.Leu255Pro)
c.171T>C
c.7388T>C (p.Leu2463Pro)
c.7193T>C (p.Leu2398Pro)
c.7361T>C (p.Leu2454Pro)
16g.89275172A>TCA397147941ANKRD11c.7490T>A (p.Leu2497Gln)
c.*7293T>A (n.*7293T>A)
c.764T>A (p.Leu255Gln)
c.171T>A
c.7388T>A (p.Leu2463Gln)
c.7193T>A (p.Leu2398Gln)
c.7361T>A (p.Leu2454Gln)
16g.89275180_89275183dupCA2825002464ANKRD11c.7487_7490dup (p.Ala2498ProfsTer?)
c.*7290_*7293dup (n.*7290_*7293dup)
c.761_764dup (p.Ala256ProfsTer?)
c.168_171dup
c.7385_7388dup (p.Ala2464ProfsTer?)
c.7190_7193dup (p.Ala2399ProfsTer?)
c.7358_7361dup (p.Ala2455ProfsTer?)
ClinVar
16g.89275180_89275183delCA2634942582ANKRD11c.7487_7490del (p.Ser2496TrpfsTer5)
c.*7290_*7293del (n.*7290_*7293del)
c.761_764del (p.Ser254TrpfsTer5)
c.168_171del
c.7385_7388del (p.Ser2462TrpfsTer5)
c.7190_7193del (p.Ser2397TrpfsTer5)
c.7358_7361del (p.Ser2453TrpfsTer5)
gnomAD v4
16g.89275173G>ACA8241125ANKRD11c.7489C>T (p.Leu2497=)
c.*7292C>T (n.*7292C>T)
c.763C>T (p.Leu255=)
c.170C>T
c.7387C>T (p.Leu2463=)
c.7192C>T (p.Leu2398=)
c.7360C>T (p.Leu2454=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275173G>CCA397147944ANKRD11c.7489C>G (p.Leu2497Val)
c.*7292C>G (n.*7292C>G)
c.763C>G (p.Leu255Val)
c.170C>G
c.7387C>G (p.Leu2463Val)
c.7192C>G (p.Leu2398Val)
c.7360C>G (p.Leu2454Val)
16g.89275173G=CA2241598805ANKRD11c.7489C= (p.Leu2497=)
c.*7292C= (n.*7292C=)
c.763C= (p.Leu255=)
c.170C=
c.7387C= (p.Leu2463=)
c.7192C= (p.Leu2398=)
c.7360C= (p.Leu2454=)
16g.89275173G>TCA397147943ANKRD11c.7489C>A (p.Leu2497Met)
c.*7292C>A (n.*7292C>A)
c.763C>A (p.Leu255Met)
c.170C>A
c.7387C>A (p.Leu2463Met)
c.7192C>A (p.Leu2398Met)
c.7360C>A (p.Leu2454Met)
gnomAD v4
16g.89275174G>ACA286505945ANKRD11c.7488C>T (p.Ser2496=)
c.*7291C>T (n.*7291C>T)
c.762C>T (p.Ser254=)
c.169C>T
c.7386C>T (p.Ser2462=)
c.7191C>T (p.Ser2397=)
c.7359C>T (p.Ser2453=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275174G>CCA286505947ANKRD11c.7488C>G (p.Ser2496=)
c.*7291C>G (n.*7291C>G)
c.762C>G (p.Ser254=)
c.169C>G
c.7386C>G (p.Ser2462=)
c.7191C>G (p.Ser2397=)
c.7359C>G (p.Ser2453=)
dbSNP gnomAD v3 gnomAD v4
16g.89275174G=CA2241598806ANKRD11c.7488C= (p.Ser2496=)
c.*7291C= (n.*7291C=)
c.762C= (p.Ser254=)
c.169C=
c.7386C= (p.Ser2462=)
c.7191C= (p.Ser2397=)
c.7359C= (p.Ser2453=)
16g.89275174G>TCA497168694ANKRD11c.7488C>A (p.Ser2496=)
c.*7291C>A (n.*7291C>A)
c.762C>A (p.Ser254=)
c.169C>A
c.7386C>A (p.Ser2462=)
c.7191C>A (p.Ser2397=)
c.7359C>A (p.Ser2453=)
dbSNP gnomAD v4
16g.89275175G>ACA397147947ANKRD11c.7487C>T (p.Ser2496Phe)
c.*7290C>T (n.*7290C>T)
c.761C>T (p.Ser254Phe)
c.168C>T
c.7385C>T (p.Ser2462Phe)
c.7190C>T (p.Ser2397Phe)
c.7358C>T (p.Ser2453Phe)
ClinVar dbSNP
16g.89275175G>CCA397147945ANKRD11c.7487C>G (p.Ser2496Cys)
c.*7290C>G (n.*7290C>G)
c.761C>G (p.Ser254Cys)
c.168C>G
c.7385C>G (p.Ser2462Cys)
c.7190C>G (p.Ser2397Cys)
c.7358C>G (p.Ser2453Cys)
16g.89275175G=CA2241598807ANKRD11c.7487C= (p.Ser2496=)
c.*7290C= (n.*7290C=)
c.761C= (p.Ser254=)
c.168C=
c.7385C= (p.Ser2462=)
c.7190C= (p.Ser2397=)
c.7358C= (p.Ser2453=)
16g.89275175G>TCA397147946ANKRD11c.7487C>A (p.Ser2496Tyr)
c.*7290C>A (n.*7290C>A)
c.761C>A (p.Ser254Tyr)
c.168C>A
c.7385C>A (p.Ser2462Tyr)
c.7190C>A (p.Ser2397Tyr)
c.7358C>A (p.Ser2453Tyr)
16g.89275176A>CCA397147948ANKRD11c.7486T>G (p.Ser2496Ala)
c.*7289T>G (n.*7289T>G)
c.760T>G (p.Ser254Ala)
c.167T>G
c.7384T>G (p.Ser2462Ala)
c.7189T>G (p.Ser2397Ala)
c.7357T>G (p.Ser2453Ala)
16g.89275176A>GCA397147949ANKRD11c.7486T>C (p.Ser2496Pro)
c.*7289T>C (n.*7289T>C)
c.760T>C (p.Ser254Pro)
c.167T>C
c.7384T>C (p.Ser2462Pro)
c.7189T>C (p.Ser2397Pro)
c.7357T>C (p.Ser2453Pro)
16g.89275176A>TCA397147950ANKRD11c.7486T>A (p.Ser2496Thr)
c.*7289T>A (n.*7289T>A)
c.760T>A (p.Ser254Thr)
c.167T>A
c.7384T>A (p.Ser2462Thr)
c.7189T>A (p.Ser2397Thr)
c.7357T>A (p.Ser2453Thr)
16g.89275177G>ACA497168710ANKRD11c.7485C>T (p.Pro2495=)
c.*7288C>T (n.*7288C>T)
c.759C>T (p.Pro253=)
c.166C>T
c.7383C>T (p.Pro2461=)
c.7188C>T (p.Pro2396=)
c.7356C>T (p.Pro2452=)
16g.89275177G>CCA8241126ANKRD11c.7485C>G (p.Pro2495=)
c.*7288C>G (n.*7288C>G)
c.759C>G (p.Pro253=)
c.166C>G
c.7383C>G (p.Pro2461=)
c.7188C>G (p.Pro2396=)
c.7356C>G (p.Pro2452=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275177G=CA2241598808ANKRD11c.7485C= (p.Pro2495=)
c.*7288C= (n.*7288C=)
c.759C= (p.Pro253=)
c.166C=
c.7383C= (p.Pro2461=)
c.7188C= (p.Pro2396=)
c.7356C= (p.Pro2452=)
16g.89275177G>TCA497168708ANKRD11c.7485C>A (p.Pro2495=)
c.*7288C>A (n.*7288C>A)
c.759C>A (p.Pro253=)
c.166C>A
c.7383C>A (p.Pro2461=)
c.7188C>A (p.Pro2396=)
c.7356C>A (p.Pro2452=)
16g.89275178G>ACA397147951ANKRD11c.7484C>T (p.Pro2495Leu)
c.*7287C>T (n.*7287C>T)
c.758C>T (p.Pro253Leu)
c.165C>T
c.7382C>T (p.Pro2461Leu)
c.7187C>T (p.Pro2396Leu)
c.7355C>T (p.Pro2452Leu)
COSMIC
16g.89275178G>CCA397147952ANKRD11c.7484C>G (p.Pro2495Arg)
c.*7287C>G (n.*7287C>G)
c.758C>G (p.Pro253Arg)
c.165C>G
c.7382C>G (p.Pro2461Arg)
c.7187C>G (p.Pro2396Arg)
c.7355C>G (p.Pro2452Arg)
16g.89275178G>TCA397147953ANKRD11c.7484C>A (p.Pro2495His)
c.*7287C>A (n.*7287C>A)
c.758C>A (p.Pro253His)
c.165C>A
c.7382C>A (p.Pro2461His)
c.7187C>A (p.Pro2396His)
c.7355C>A (p.Pro2452His)
gnomAD v4
16g.89275179G>ACA397147954ANKRD11c.7483C>T (p.Pro2495Ser)
c.*7286C>T (n.*7286C>T)
c.757C>T (p.Pro253Ser)
c.164C>T
c.7381C>T (p.Pro2461Ser)
c.7186C>T (p.Pro2396Ser)
c.7354C>T (p.Pro2452Ser)
16g.89275179G>CCA397147955ANKRD11c.7483C>G (p.Pro2495Ala)
c.*7286C>G (n.*7286C>G)
c.757C>G (p.Pro253Ala)
c.164C>G
c.7381C>G (p.Pro2461Ala)
c.7186C>G (p.Pro2396Ala)
c.7354C>G (p.Pro2452Ala)
16g.89275179G>TCA397147956ANKRD11c.7483C>A (p.Pro2495Thr)
c.*7286C>A (n.*7286C>A)
c.757C>A (p.Pro253Thr)
c.164C>A
c.7381C>A (p.Pro2461Thr)
c.7186C>A (p.Pro2396Thr)
c.7354C>A (p.Pro2452Thr)
16g.89275180A>CCA497168722ANKRD11c.7482T>G (p.Pro2494=)
c.*7285T>G (n.*7285T>G)
c.756T>G (p.Pro252=)
c.163T>G
c.7380T>G (p.Pro2460=)
c.7185T>G (p.Pro2395=)
c.7353T>G (p.Pro2451=)
16g.89275180A>GCA497168724ANKRD11c.7482T>C (p.Pro2494=)
c.*7285T>C (n.*7285T>C)
c.756T>C (p.Pro252=)
c.163T>C
c.7380T>C (p.Pro2460=)
c.7185T>C (p.Pro2395=)
c.7353T>C (p.Pro2451=)
16g.89275180A>TCA497168727ANKRD11c.7482T>A (p.Pro2494=)
c.*7285T>A (n.*7285T>A)
c.756T>A (p.Pro252=)
c.163T>A
c.7380T>A (p.Pro2460=)
c.7185T>A (p.Pro2395=)
c.7353T>A (p.Pro2451=)
16g.89275181G>ACA397147957ANKRD11c.7481C>T (p.Pro2494Leu)
c.*7284C>T (n.*7284C>T)
c.755C>T (p.Pro252Leu)
c.162C>T
c.7379C>T (p.Pro2460Leu)
c.7184C>T (p.Pro2395Leu)
c.7352C>T (p.Pro2451Leu)
16g.89275181G>CCA397147959ANKRD11c.7481C>G (p.Pro2494Arg)
c.*7284C>G (n.*7284C>G)
c.755C>G (p.Pro252Arg)
c.162C>G
c.7379C>G (p.Pro2460Arg)
c.7184C>G (p.Pro2395Arg)
c.7352C>G (p.Pro2451Arg)
ClinVar dbSNP
16g.89275181G>TCA397147958ANKRD11c.7481C>A (p.Pro2494His)
c.*7284C>A (n.*7284C>A)
c.755C>A (p.Pro252His)
c.162C>A
c.7379C>A (p.Pro2460His)
c.7184C>A (p.Pro2395His)
c.7352C>A (p.Pro2451His)
16g.89275185dupCA915940401ANKRD11c.7481dup (p.Pro2495SerfsTer?)
c.*7284dup (n.*7284dup)
c.755dup (p.Pro253SerfsTer?)
c.162dup
c.7379dup (p.Pro2461SerfsTer?)
c.7184dup (p.Pro2396SerfsTer?)
c.7352dup (p.Pro2452SerfsTer?)
16g.89275185delCA2634942583ANKRD11c.7481del (p.Pro2494LeufsTer8)
c.*7284del (n.*7284del)
c.755del (p.Pro252LeufsTer8)
c.162del
c.7379del (p.Pro2460LeufsTer8)
c.7184del (p.Pro2395LeufsTer8)
c.7352del (p.Pro2451LeufsTer8)
gnomAD v4
16g.89275182G>ACA397147960ANKRD11c.7480C>T (p.Pro2494Ser)
c.*7283C>T (n.*7283C>T)
c.754C>T (p.Pro252Ser)
c.161C>T
c.7378C>T (p.Pro2460Ser)
c.7183C>T (p.Pro2395Ser)
c.7351C>T (p.Pro2451Ser)
16g.89275182G>CCA397147961ANKRD11c.7480C>G (p.Pro2494Ala)
c.*7283C>G (n.*7283C>G)
c.754C>G (p.Pro252Ala)
c.161C>G
c.7378C>G (p.Pro2460Ala)
c.7183C>G (p.Pro2395Ala)
c.7351C>G (p.Pro2451Ala)
16g.89275182G=CA2241598809ANKRD11c.7480C= (p.Pro2494=)
c.*7283C= (n.*7283C=)
c.754C= (p.Pro252=)
c.161C=
c.7378C= (p.Pro2460=)
c.7183C= (p.Pro2395=)
c.7351C= (p.Pro2451=)
16g.89275182G>TCA16620302ANKRD11c.7480C>A (p.Pro2494Thr)
c.*7283C>A (n.*7283C>A)
c.754C>A (p.Pro252Thr)
c.161C>A
c.7378C>A (p.Pro2460Thr)
c.7183C>A (p.Pro2395Thr)
c.7351C>A (p.Pro2451Thr)
ClinVar dbSNP gnomAD v4
16g.89275183G>ACA497168738ANKRD11c.7479C>T (p.Pro2493=)
c.*7282C>T (n.*7282C>T)
c.753C>T (p.Pro251=)
c.160C>T
c.7377C>T (p.Pro2459=)
c.7182C>T (p.Pro2394=)
c.7350C>T (p.Pro2450=)
dbSNP
16g.89275183G>CCA497168740ANKRD11c.7479C>G (p.Pro2493=)
c.*7282C>G (n.*7282C>G)
c.753C>G (p.Pro251=)
c.160C>G
c.7377C>G (p.Pro2459=)
c.7182C>G (p.Pro2394=)
c.7350C>G (p.Pro2450=)
gnomAD v4
16g.89275183G=CA2241598810ANKRD11c.7479C= (p.Pro2493=)
c.*7282C= (n.*7282C=)
c.753C= (p.Pro251=)
c.160C=
c.7377C= (p.Pro2459=)
c.7182C= (p.Pro2394=)
c.7350C= (p.Pro2450=)
16g.89275183G>TCA497168742ANKRD11c.7479C>A (p.Pro2493=)
c.*7282C>A (n.*7282C>A)
c.753C>A (p.Pro251=)
c.160C>A
c.7377C>A (p.Pro2459=)
c.7182C>A (p.Pro2394=)
c.7350C>A (p.Pro2450=)
16g.89275184G>ACA397147962ANKRD11c.7478C>T (p.Pro2493Leu)
c.*7281C>T (n.*7281C>T)
c.752C>T (p.Pro251Leu)
c.159C>T
c.7376C>T (p.Pro2459Leu)
c.7181C>T (p.Pro2394Leu)
c.7349C>T (p.Pro2450Leu)
dbSNP gnomAD v2
16g.89275184G>CCA397147963ANKRD11c.7478C>G (p.Pro2493Arg)
c.*7281C>G (n.*7281C>G)
c.752C>G (p.Pro251Arg)
c.159C>G
c.7376C>G (p.Pro2459Arg)
c.7181C>G (p.Pro2394Arg)
c.7349C>G (p.Pro2450Arg)
16g.89275184G=CA2241598811ANKRD11c.7478C= (p.Pro2493=)
c.*7281C= (n.*7281C=)
c.752C= (p.Pro251=)
c.159C=
c.7376C= (p.Pro2459=)
c.7181C= (p.Pro2394=)
c.7349C= (p.Pro2450=)
16g.89275184G>TCA397147964ANKRD11c.7478C>A (p.Pro2493His)
c.*7281C>A (n.*7281C>A)
c.752C>A (p.Pro251His)
c.159C>A
c.7376C>A (p.Pro2459His)
c.7181C>A (p.Pro2394His)
c.7349C>A (p.Pro2450His)
16g.89275185G>ACA397147965ANKRD11c.7477C>T (p.Pro2493Ser)
c.*7280C>T (n.*7280C>T)
c.751C>T (p.Pro251Ser)
c.158C>T
c.7375C>T (p.Pro2459Ser)
c.7180C>T (p.Pro2394Ser)
c.7348C>T (p.Pro2450Ser)
gnomAD v4
16g.89275185G>CCA397147966ANKRD11c.7477C>G (p.Pro2493Ala)
c.*7280C>G (n.*7280C>G)
c.751C>G (p.Pro251Ala)
c.158C>G
c.7375C>G (p.Pro2459Ala)
c.7180C>G (p.Pro2394Ala)
c.7348C>G (p.Pro2450Ala)
16g.89275185G>TCA397147967ANKRD11c.7477C>A (p.Pro2493Thr)
c.*7280C>A (n.*7280C>A)
c.751C>A (p.Pro251Thr)
c.158C>A
c.7375C>A (p.Pro2459Thr)
c.7180C>A (p.Pro2394Thr)
c.7348C>A (p.Pro2450Thr)
16g.89275186T>ACA497168754ANKRD11c.7476A>T (p.Ala2492=)
c.*7279A>T (n.*7279A>T)
c.750A>T (p.Ala250=)
c.157A>T
c.7374A>T (p.Ala2458=)
c.7179A>T (p.Ala2393=)
c.7347A>T (p.Ala2449=)
16g.89275186T>CCA8241127ANKRD11c.7476A>G (p.Ala2492=)
c.*7279A>G (n.*7279A>G)
c.750A>G (p.Ala250=)
c.157A>G
c.7374A>G (p.Ala2458=)
c.7179A>G (p.Ala2393=)
c.7347A>G (p.Ala2449=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275186T>GCA497168758ANKRD11c.7476A>C (p.Ala2492=)
c.*7279A>C (n.*7279A>C)
c.750A>C (p.Ala250=)
c.157A>C
c.7374A>C (p.Ala2458=)
c.7179A>C (p.Ala2393=)
c.7347A>C (p.Ala2449=)
dbSNP
16g.89275186T=CA2241598812ANKRD11c.7476A= (p.Ala2492=)
c.*7279A= (n.*7279A=)
c.750A= (p.Ala250=)
c.157A=
c.7374A= (p.Ala2458=)
c.7179A= (p.Ala2393=)
c.7347A= (p.Ala2449=)
16g.89275187G>ACA397147969ANKRD11c.7475C>T (p.Ala2492Val)
c.*7278C>T (n.*7278C>T)
c.749C>T (p.Ala250Val)
c.156C>T
c.7373C>T (p.Ala2458Val)
c.7178C>T (p.Ala2393Val)
c.7346C>T (p.Ala2449Val)
16g.89275187G>CCA397147970ANKRD11c.7475C>G (p.Ala2492Gly)
c.*7278C>G (n.*7278C>G)
c.749C>G (p.Ala250Gly)
c.156C>G
c.7373C>G (p.Ala2458Gly)
c.7178C>G (p.Ala2393Gly)
c.7346C>G (p.Ala2449Gly)
16g.89275187G>TCA397147968ANKRD11c.7475C>A (p.Ala2492Glu)
c.*7278C>A (n.*7278C>A)
c.749C>A (p.Ala250Glu)
c.156C>A
c.7373C>A (p.Ala2458Glu)
c.7178C>A (p.Ala2393Glu)
c.7346C>A (p.Ala2449Glu)
16g.89275188C>ACA397147971ANKRD11c.7474G>T (p.Ala2492Ser)
c.*7277G>T (n.*7277G>T)
c.748G>T (p.Ala250Ser)
c.155G>T
c.7372G>T (p.Ala2458Ser)
c.7177G>T (p.Ala2393Ser)
c.7345G>T (p.Ala2449Ser)
gnomAD v4
16g.89275188C>GCA397147972ANKRD11c.7474G>C (p.Ala2492Pro)
c.*7277G>C (n.*7277G>C)
c.748G>C (p.Ala250Pro)
c.155G>C
c.7372G>C (p.Ala2458Pro)
c.7177G>C (p.Ala2393Pro)
c.7345G>C (p.Ala2449Pro)
16g.89275188C>TCA397147973ANKRD11c.7474G>A (p.Ala2492Thr)
c.*7277G>A (n.*7277G>A)
c.748G>A (p.Ala250Thr)
c.155G>A
c.7372G>A (p.Ala2458Thr)
c.7177G>A (p.Ala2393Thr)
c.7345G>A (p.Ala2449Thr)
gnomAD v4
16g.89275189G>ACA8241128ANKRD11c.7473C>T (p.Ile2491=)
c.*7276C>T (n.*7276C>T)
c.747C>T (p.Ile249=)
c.154C>T
c.7371C>T (p.Ile2457=)
c.7176C>T (p.Ile2392=)
c.7344C>T (p.Ile2448=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275189G>CCA397147974ANKRD11c.7473C>G (p.Ile2491Met)
c.*7276C>G (n.*7276C>G)
c.747C>G (p.Ile249Met)
c.154C>G
c.7371C>G (p.Ile2457Met)
c.7176C>G (p.Ile2392Met)
c.7344C>G (p.Ile2448Met)
16g.89275189G=CA2241598813ANKRD11c.7473C= (p.Ile2491=)
c.*7276C= (n.*7276C=)
c.747C= (p.Ile249=)
c.154C=
c.7371C= (p.Ile2457=)
c.7176C= (p.Ile2392=)
c.7344C= (p.Ile2448=)
16g.89275189G>TCA497168770ANKRD11c.7473C>A (p.Ile2491=)
c.*7276C>A (n.*7276C>A)
c.747C>A (p.Ile249=)
c.154C>A
c.7371C>A (p.Ile2457=)
c.7176C>A (p.Ile2392=)
c.7344C>A (p.Ile2448=)
16g.89275190A>CCA397147975ANKRD11c.7472T>G (p.Ile2491Ser)
c.*7275T>G (n.*7275T>G)
c.746T>G (p.Ile249Ser)
c.153T>G
c.7370T>G (p.Ile2457Ser)
c.7175T>G (p.Ile2392Ser)
c.7343T>G (p.Ile2448Ser)
16g.89275190A>GCA397147976ANKRD11c.7472T>C (p.Ile2491Thr)
c.*7275T>C (n.*7275T>C)
c.746T>C (p.Ile249Thr)
c.153T>C
c.7370T>C (p.Ile2457Thr)
c.7175T>C (p.Ile2392Thr)
c.7343T>C (p.Ile2448Thr)
16g.89275190A>TCA397147977ANKRD11c.7472T>A (p.Ile2491Asn)
c.*7275T>A (n.*7275T>A)
c.746T>A (p.Ile249Asn)
c.153T>A
c.7370T>A (p.Ile2457Asn)
c.7175T>A (p.Ile2392Asn)
c.7343T>A (p.Ile2448Asn)
16g.89275191T>ACA397147978ANKRD11c.7471A>T (p.Ile2491Phe)
c.*7274A>T (n.*7274A>T)
c.745A>T (p.Ile249Phe)
c.152A>T
c.7369A>T (p.Ile2457Phe)
c.7174A>T (p.Ile2392Phe)
c.7342A>T (p.Ile2448Phe)
16g.89275191T>CCA286505950ANKRD11c.7471A>G (p.Ile2491Val)
c.*7274A>G (n.*7274A>G)
c.745A>G (p.Ile249Val)
c.152A>G
c.7369A>G (p.Ile2457Val)
c.7174A>G (p.Ile2392Val)
c.7342A>G (p.Ile2448Val)
dbSNP
16g.89275191T>GCA397147979ANKRD11c.7471A>C (p.Ile2491Leu)
c.*7274A>C (n.*7274A>C)
c.745A>C (p.Ile249Leu)
c.152A>C
c.7369A>C (p.Ile2457Leu)
c.7174A>C (p.Ile2392Leu)
c.7342A>C (p.Ile2448Leu)
16g.89275191T=CA2241598814ANKRD11c.7471A= (p.Ile2491=)
c.*7274A= (n.*7274A=)
c.745A= (p.Ile249=)
c.152A=
c.7369A= (p.Ile2457=)
c.7174A= (p.Ile2392=)
c.7342A= (p.Ile2448=)
16g.89275192C>ACA397147981ANKRD11c.7471-1G>T (n.7471-1G>T)
c.*7274-1G>T (n.*7274-1G>T)
c.745-1G>T (n.745-1G>T)
c.152-1G>T
c.7369-1G>T (n.7369-1G>T)
c.7174-1G>T (n.7174-1G>T)
c.7342-1G>T (n.7342-1G>T)
gnomAD v4
16g.89275192C=CA2241598815ANKRD11c.7471-1G= (n.7471-1G=)
c.*7274-1G= (n.*7274-1G=)
c.745-1G= (n.745-1G=)
c.152-1G=
c.7369-1G= (n.7369-1G=)
c.7174-1G= (n.7174-1G=)
c.7342-1G= (n.7342-1G=)
16g.89275192C>GCA397147982ANKRD11c.7471-1G>C (n.7471-1G>C)
c.*7274-1G>C (n.*7274-1G>C)
c.745-1G>C (n.745-1G>C)
c.152-1G>C
c.7369-1G>C (n.7369-1G>C)
c.7174-1G>C (n.7174-1G>C)
c.7342-1G>C (n.7342-1G>C)
16g.89275192C>TCA397147980ANKRD11c.7471-1G>A (n.7471-1G>A)
c.*7274-1G>A (n.*7274-1G>A)
c.745-1G>A (n.745-1G>A)
c.152-1G>A
c.7369-1G>A (n.7369-1G>A)
c.7174-1G>A (n.7174-1G>A)
c.7342-1G>A (n.7342-1G>A)
dbSNP gnomAD v2
16g.89275193T>ACA397147983ANKRD11c.7471-2A>T (n.7471-2A>T)
c.*7274-2A>T (n.*7274-2A>T)
c.745-2A>T (n.745-2A>T)
c.152-2A>T
c.7369-2A>T (n.7369-2A>T)
c.7174-2A>T (n.7174-2A>T)
c.7342-2A>T (n.7342-2A>T)
16g.89275193T>CCA397147984ANKRD11c.7471-2A>G (n.7471-2A>G)
c.*7274-2A>G (n.*7274-2A>G)
c.745-2A>G (n.745-2A>G)
c.152-2A>G
c.7369-2A>G (n.7369-2A>G)
c.7174-2A>G (n.7174-2A>G)
c.7342-2A>G (n.7342-2A>G)
ClinVar dbSNP gnomAD v4
16g.89275193T>GCA397147985ANKRD11c.7471-2A>C (n.7471-2A>C)
c.*7274-2A>C (n.*7274-2A>C)
c.745-2A>C (n.745-2A>C)
c.152-2A>C
c.7369-2A>C (n.7369-2A>C)
c.7174-2A>C (n.7174-2A>C)
c.7342-2A>C (n.7342-2A>C)
16g.89275193T=CA2241598816ANKRD11c.7471-2A= (n.7471-2A=)
c.*7274-2A= (n.*7274-2A=)
c.745-2A= (n.745-2A=)
c.152-2A=
c.7369-2A= (n.7369-2A=)
c.7174-2A= (n.7174-2A=)
c.7342-2A= (n.7342-2A=)
16g.89275195C>ACA2634942585ANKRD11c.7471-4G>T (n.7471-4G>T)
c.*7274-4G>T (n.*7274-4G>T)
c.745-4G>T (n.745-4G>T)
c.152-4G>T
c.7369-4G>T (n.7369-4G>T)
c.7174-4G>T (n.7174-4G>T)
c.7342-4G>T (n.7342-4G>T)
gnomAD v4
16g.89275195C=CA2241598817ANKRD11c.7471-4G= (n.7471-4G=)
c.*7274-4G= (n.*7274-4G=)
c.745-4G= (n.745-4G=)
c.152-4G=
c.7369-4G= (n.7369-4G=)
c.7174-4G= (n.7174-4G=)
c.7342-4G= (n.7342-4G=)
16g.89275195C>TCA286505951ANKRD11c.7471-4G>A (n.7471-4G>A)
c.*7274-4G>A (n.*7274-4G>A)
c.745-4G>A (n.745-4G>A)
c.152-4G>A
c.7369-4G>A (n.7369-4G>A)
c.7174-4G>A (n.7174-4G>A)
c.7342-4G>A (n.7342-4G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275196A>GCA2634942586ANKRD11c.7471-5T>C (n.7471-5T>C)
c.*7274-5T>C (n.*7274-5T>C)
c.745-5T>C (n.745-5T>C)
c.152-5T>C
c.7369-5T>C (n.7369-5T>C)
c.7174-5T>C (n.7174-5T>C)
c.7342-5T>C (n.7342-5T>C)
gnomAD v4
16g.89275197G>ACA286505952ANKRD11c.7471-6C>T (n.7471-6C>T)
c.*7274-6C>T (n.*7274-6C>T)
c.745-6C>T (n.745-6C>T)
c.152-6C>T
c.7369-6C>T (n.7369-6C>T)
c.7174-6C>T (n.7174-6C>T)
c.7342-6C>T (n.7342-6C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275197G=CA2241598818ANKRD11c.7471-6C= (n.7471-6C=)
c.*7274-6C= (n.*7274-6C=)
c.745-6C= (n.745-6C=)
c.152-6C=
c.7369-6C= (n.7369-6C=)
c.7174-6C= (n.7174-6C=)
c.7342-6C= (n.7342-6C=)
16g.89275197G>TCA2634942587ANKRD11c.7471-6C>A (n.7471-6C>A)
c.*7274-6C>A (n.*7274-6C>A)
c.745-6C>A (n.745-6C>A)
c.152-6C>A
c.7369-6C>A (n.7369-6C>A)
c.7174-6C>A (n.7174-6C>A)
c.7342-6C>A (n.7342-6C>A)
gnomAD v4
16g.89275198G>ACA2634942588ANKRD11c.7471-7C>T (n.7471-7C>T)
c.*7274-7C>T (n.*7274-7C>T)
c.745-7C>T (n.745-7C>T)
c.152-7C>T
c.7369-7C>T (n.7369-7C>T)
c.7174-7C>T (n.7174-7C>T)
c.7342-7C>T (n.7342-7C>T)
gnomAD v4
16g.89275198G>TCA2634942589ANKRD11c.7471-7C>A (n.7471-7C>A)
c.*7274-7C>A (n.*7274-7C>A)
c.745-7C>A (n.745-7C>A)
c.152-7C>A
c.7369-7C>A (n.7369-7C>A)
c.7174-7C>A (n.7174-7C>A)
c.7342-7C>A (n.7342-7C>A)
gnomAD v4
16g.89275199C>ACA2634942590ANKRD11c.7471-8G>T (n.7471-8G>T)
c.*7274-8G>T (n.*7274-8G>T)
c.745-8G>T (n.745-8G>T)
c.152-8G>T
c.7369-8G>T (n.7369-8G>T)
c.7174-8G>T (n.7174-8G>T)
c.7342-8G>T (n.7342-8G>T)
gnomAD v4
16g.89275199C=CA2241598819ANKRD11c.7471-8G= (n.7471-8G=)
c.*7274-8G= (n.*7274-8G=)
c.745-8G= (n.745-8G=)
c.152-8G=
c.7369-8G= (n.7369-8G=)
c.7174-8G= (n.7174-8G=)
c.7342-8G= (n.7342-8G=)
16g.89275199C>TCA624242530ANKRD11c.7471-8G>A (n.7471-8G>A)
c.*7274-8G>A (n.*7274-8G>A)
c.745-8G>A (n.745-8G>A)
c.152-8G>A
c.7369-8G>A (n.7369-8G>A)
c.7174-8G>A (n.7174-8G>A)
c.7342-8G>A (n.7342-8G>A)
dbSNP gnomAD v2
16g.89275200A=CA2241598820ANKRD11c.7471-9T= (n.7471-9T=)
c.*7274-9T= (n.*7274-9T=)
c.745-9T= (n.745-9T=)
c.152-9T=
c.7369-9T= (n.7369-9T=)
c.7174-9T= (n.7174-9T=)
c.7342-9T= (n.7342-9T=)
16g.89275200A>GCA8241129ANKRD11c.7471-9T>C (n.7471-9T>C)
c.*7274-9T>C (n.*7274-9T>C)
c.745-9T>C (n.745-9T>C)
c.152-9T>C
c.7369-9T>C (n.7369-9T>C)
c.7174-9T>C (n.7174-9T>C)
c.7342-9T>C (n.7342-9T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275203delCA2634942591ANKRD11c.7471-9del (n.7471-9del)
c.*7274-9del (n.*7274-9del)
c.745-9del (n.745-9del)
c.152-9del
c.7369-9del (n.7369-9del)
c.7174-9del (n.7174-9del)
c.7342-9del (n.7342-9del)
gnomAD v4
16g.89275201A>GCA2634942592ANKRD11c.7471-10T>C (n.7471-10T>C)
c.*7274-10T>C (n.*7274-10T>C)
c.745-10T>C (n.745-10T>C)
c.152-10T>C
c.7369-10T>C (n.7369-10T>C)
c.7174-10T>C (n.7174-10T>C)
c.7342-10T>C (n.7342-10T>C)
gnomAD v4
16g.89275202A>GCA2741510179ANKRD11c.7471-11T>C (n.7471-11T>C)
c.*7274-11T>C (n.*7274-11T>C)
c.745-11T>C (n.745-11T>C)
c.152-11T>C
c.7369-11T>C (n.7369-11T>C)
c.7174-11T>C (n.7174-11T>C)
c.7342-11T>C (n.7342-11T>C)
16g.89275202A>TCA2634942593ANKRD11c.7471-11T>A (n.7471-11T>A)
c.*7274-11T>A (n.*7274-11T>A)
c.745-11T>A (n.745-11T>A)
c.152-11T>A
c.7369-11T>A (n.7369-11T>A)
c.7174-11T>A (n.7174-11T>A)
c.7342-11T>A (n.7342-11T>A)
gnomAD v4
16g.89275203A>GCA2634942594ANKRD11c.7471-12T>C (n.7471-12T>C)
c.*7274-12T>C (n.*7274-12T>C)
c.745-12T>C (n.745-12T>C)
c.152-12T>C
c.7369-12T>C (n.7369-12T>C)
c.7174-12T>C (n.7174-12T>C)
c.7342-12T>C (n.7342-12T>C)
gnomAD v4
16g.89275203A>TCA2634942595ANKRD11c.7471-12T>A (n.7471-12T>A)
c.*7274-12T>A (n.*7274-12T>A)
c.745-12T>A (n.745-12T>A)
c.152-12T>A
c.7369-12T>A (n.7369-12T>A)
c.7174-12T>A (n.7174-12T>A)
c.7342-12T>A (n.7342-12T>A)
gnomAD v4
16g.89275204G>ACA624242531ANKRD11c.7471-13C>T (n.7471-13C>T)
c.*7274-13C>T (n.*7274-13C>T)
c.745-13C>T (n.745-13C>T)
c.152-13C>T
c.7369-13C>T (n.7369-13C>T)
c.7174-13C>T (n.7174-13C>T)
c.7342-13C>T (n.7342-13C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275204G>CCA624242532ANKRD11c.7471-13C>G (n.7471-13C>G)
c.*7274-13C>G (n.*7274-13C>G)
c.745-13C>G (n.745-13C>G)
c.152-13C>G
c.7369-13C>G (n.7369-13C>G)
c.7174-13C>G (n.7174-13C>G)
c.7342-13C>G (n.7342-13C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275204G=CA2241598821ANKRD11c.7471-13C= (n.7471-13C=)
c.*7274-13C= (n.*7274-13C=)
c.745-13C= (n.745-13C=)
c.152-13C=
c.7369-13C= (n.7369-13C=)
c.7174-13C= (n.7174-13C=)
c.7342-13C= (n.7342-13C=)
16g.89275204G>TCA2634942596ANKRD11c.7471-13C>A (n.7471-13C>A)
c.*7274-13C>A (n.*7274-13C>A)
c.745-13C>A (n.745-13C>A)
c.152-13C>A
c.7369-13C>A (n.7369-13C>A)
c.7174-13C>A (n.7174-13C>A)
c.7342-13C>A (n.7342-13C>A)
gnomAD v4
16g.89275205G>ACA8241130ANKRD11c.7471-14C>T (n.7471-14C>T)
c.*7274-14C>T (n.*7274-14C>T)
c.745-14C>T (n.745-14C>T)
c.152-14C>T
c.7369-14C>T (n.7369-14C>T)
c.7174-14C>T (n.7174-14C>T)
c.7342-14C>T (n.7342-14C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275205G=CA2241598822ANKRD11c.7471-14C= (n.7471-14C=)
c.*7274-14C= (n.*7274-14C=)
c.745-14C= (n.745-14C=)
c.152-14C=
c.7369-14C= (n.7369-14C=)
c.7174-14C= (n.7174-14C=)
c.7342-14C= (n.7342-14C=)
16g.89275205G>TCA8241131ANKRD11c.7471-14C>A (n.7471-14C>A)
c.*7274-14C>A (n.*7274-14C>A)
c.745-14C>A (n.745-14C>A)
c.152-14C>A
c.7369-14C>A (n.7369-14C>A)
c.7174-14C>A (n.7174-14C>A)
c.7342-14C>A (n.7342-14C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275208_89275211delCA2634942597ANKRD11c.7471-17_7471-14del (n.7471-17_7471-14del)
c.*7274-17_*7274-14del (n.*7274-17_*7274-14del)
c.745-17_745-14del (n.745-17_745-14del)
c.152-17_152-14del
c.7369-17_7369-14del (n.7369-17_7369-14del)
c.7174-17_7174-14del (n.7174-17_7174-14del)
c.7342-17_7342-14del (n.7342-17_7342-14del)
gnomAD v4
16g.89275206T>ACA2634942598ANKRD11c.7471-15A>T (n.7471-15A>T)
c.*7274-15A>T (n.*7274-15A>T)
c.745-15A>T (n.745-15A>T)
c.152-15A>T
c.7369-15A>T (n.7369-15A>T)
c.7174-15A>T (n.7174-15A>T)
c.7342-15A>T (n.7342-15A>T)
gnomAD v4
16g.89275206T>GCA2733138469ANKRD11c.7471-15A>C (n.7471-15A>C)
c.*7274-15A>C (n.*7274-15A>C)
c.745-15A>C (n.745-15A>C)
c.152-15A>C
c.7369-15A>C (n.7369-15A>C)
c.7174-15A>C (n.7174-15A>C)
c.7342-15A>C (n.7342-15A>C)
dbSNP
16g.89275206dupCA624242533ANKRD11c.7471-15dup (n.7471-15dup)
c.*7274-15dup (n.*7274-15dup)
c.745-15dup (n.745-15dup)
c.152-15dup
c.7369-15dup (n.7369-15dup)
c.7174-15dup (n.7174-15dup)
c.7342-15dup (n.7342-15dup)
dbSNP gnomAD v2 gnomAD v4
16g.89275207G>ACA8241132ANKRD11c.7471-16C>T (n.7471-16C>T)
c.*7274-16C>T (n.*7274-16C>T)
c.745-16C>T (n.745-16C>T)
c.152-16C>T
c.7369-16C>T (n.7369-16C>T)
c.7174-16C>T (n.7174-16C>T)
c.7342-16C>T (n.7342-16C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275207G=CA2241598823ANKRD11c.7471-16C= (n.7471-16C=)
c.*7274-16C= (n.*7274-16C=)
c.745-16C= (n.745-16C=)
c.152-16C=
c.7369-16C= (n.7369-16C=)
c.7174-16C= (n.7174-16C=)
c.7342-16C= (n.7342-16C=)
16g.89275207G>TCA8241133ANKRD11c.7471-16C>A (n.7471-16C>A)
c.*7274-16C>A (n.*7274-16C>A)
c.745-16C>A (n.745-16C>A)
c.152-16C>A
c.7369-16C>A (n.7369-16C>A)
c.7174-16C>A (n.7174-16C>A)
c.7342-16C>A (n.7342-16C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275208A=CA2241598824ANKRD11c.7471-17T= (n.7471-17T=)
c.*7274-17T= (n.*7274-17T=)
c.745-17T= (n.745-17T=)
c.152-17T=
c.7369-17T= (n.7369-17T=)
c.7174-17T= (n.7174-17T=)
c.7342-17T= (n.7342-17T=)
16g.89275208A>CCA8241134ANKRD11c.7471-17T>G (n.7471-17T>G)
c.*7274-17T>G (n.*7274-17T>G)
c.745-17T>G (n.745-17T>G)
c.152-17T>G
c.7369-17T>G (n.7369-17T>G)
c.7174-17T>G (n.7174-17T>G)
c.7342-17T>G (n.7342-17T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275209G>ACA2634942600ANKRD11c.7471-18C>T (n.7471-18C>T)
c.*7274-18C>T (n.*7274-18C>T)
c.745-18C>T (n.745-18C>T)
c.152-18C>T
c.7369-18C>T (n.7369-18C>T)
c.7174-18C>T (n.7174-18C>T)
c.7342-18C>T (n.7342-18C>T)
gnomAD v4
16g.89275209G>TCA2634942599ANKRD11c.7471-18C>A (n.7471-18C>A)
c.*7274-18C>A (n.*7274-18C>A)
c.745-18C>A (n.745-18C>A)
c.152-18C>A
c.7369-18C>A (n.7369-18C>A)
c.7174-18C>A (n.7174-18C>A)
c.7342-18C>A (n.7342-18C>A)
gnomAD v4
16g.89275210T>ACA2634942601ANKRD11c.7471-19A>T (n.7471-19A>T)
c.*7274-19A>T (n.*7274-19A>T)
c.745-19A>T (n.745-19A>T)
c.152-19A>T
c.7369-19A>T (n.7369-19A>T)
c.7174-19A>T (n.7174-19A>T)
c.7342-19A>T (n.7342-19A>T)
gnomAD v4
16g.89275210T>CCA8241136ANKRD11c.7471-19A>G (n.7471-19A>G)
c.*7274-19A>G (n.*7274-19A>G)
c.745-19A>G (n.745-19A>G)
c.152-19A>G
c.7369-19A>G (n.7369-19A>G)
c.7174-19A>G (n.7174-19A>G)
c.7342-19A>G (n.7342-19A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275210T>GCA8241135ANKRD11c.7471-19A>C (n.7471-19A>C)
c.*7274-19A>C (n.*7274-19A>C)
c.745-19A>C (n.745-19A>C)
c.152-19A>C
c.7369-19A>C (n.7369-19A>C)
c.7174-19A>C (n.7174-19A>C)
c.7342-19A>C (n.7342-19A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89275210T=CA2241598825ANKRD11c.7471-19A= (n.7471-19A=)
c.*7274-19A= (n.*7274-19A=)
c.745-19A= (n.745-19A=)
c.152-19A=
c.7369-19A= (n.7369-19A=)
c.7174-19A= (n.7174-19A=)
c.7342-19A= (n.7342-19A=)
16g.89275211G>ACA624242534ANKRD11c.7471-20C>T (n.7471-20C>T)
c.*7274-20C>T (n.*7274-20C>T)
c.745-20C>T (n.745-20C>T)
c.152-20C>T
c.7369-20C>T (n.7369-20C>T)
c.7174-20C>T (n.7174-20C>T)
c.7342-20C>T (n.7342-20C>T)
dbSNP gnomAD v2 gnomAD v4
16g.89275211G=CA2241598826ANKRD11c.7471-20C= (n.7471-20C=)
c.*7274-20C= (n.*7274-20C=)
c.745-20C= (n.745-20C=)
c.152-20C=
c.7369-20C= (n.7369-20C=)
c.7174-20C= (n.7174-20C=)
c.7342-20C= (n.7342-20C=)
16g.89275211G>TCA2634942602ANKRD11c.7471-20C>A (n.7471-20C>A)
c.*7274-20C>A (n.*7274-20C>A)
c.745-20C>A (n.745-20C>A)
c.152-20C>A
c.7369-20C>A (n.7369-20C>A)
c.7174-20C>A (n.7174-20C>A)
c.7342-20C>A (n.7342-20C>A)
gnomAD v4
16g.89275212T>GCA8241137ANKRD11c.7471-21A>C (n.7471-21A>C)
c.*7274-21A>C (n.*7274-21A>C)
c.745-21A>C (n.745-21A>C)
c.152-21A>C
c.7369-21A>C (n.7369-21A>C)
c.7174-21A>C (n.7174-21A>C)
c.7342-21A>C (n.7342-21A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275212T=CA2241598827ANKRD11c.7471-21A= (n.7471-21A=)
c.*7274-21A= (n.*7274-21A=)
c.745-21A= (n.745-21A=)
c.152-21A=
c.7369-21A= (n.7369-21A=)
c.7174-21A= (n.7174-21A=)
c.7342-21A= (n.7342-21A=)
16g.89275213G>ACA624242536ANKRD11c.7471-22C>T (n.7471-22C>T)
c.*7274-22C>T (n.*7274-22C>T)
c.745-22C>T (n.745-22C>T)
c.152-22C>T
c.7369-22C>T (n.7369-22C>T)
c.7174-22C>T (n.7174-22C>T)
c.7342-22C>T (n.7342-22C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275213G>CCA2634942603ANKRD11c.7471-22C>G (n.7471-22C>G)
c.*7274-22C>G (n.*7274-22C>G)
c.745-22C>G (n.745-22C>G)
c.152-22C>G
c.7369-22C>G (n.7369-22C>G)
c.7174-22C>G (n.7174-22C>G)
c.7342-22C>G (n.7342-22C>G)
gnomAD v4
16g.89275213G=CA2241598828ANKRD11c.7471-22C= (n.7471-22C=)
c.*7274-22C= (n.*7274-22C=)
c.745-22C= (n.745-22C=)
c.152-22C=
c.7369-22C= (n.7369-22C=)
c.7174-22C= (n.7174-22C=)
c.7342-22C= (n.7342-22C=)
16g.89275213G>TCA8241138ANKRD11c.7471-22C>A (n.7471-22C>A)
c.*7274-22C>A (n.*7274-22C>A)
c.745-22C>A (n.745-22C>A)
c.152-22C>A
c.7369-22C>A (n.7369-22C>A)
c.7174-22C>A (n.7174-22C>A)
c.7342-22C>A (n.7342-22C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275218dupCA624242535ANKRD11c.7471-22dup (n.7471-22dup)
c.*7274-22dup (n.*7274-22dup)
c.745-22dup (n.745-22dup)
c.152-22dup
c.7369-22dup (n.7369-22dup)
c.7174-22dup (n.7174-22dup)
c.7342-22dup (n.7342-22dup)
dbSNP gnomAD v2 gnomAD v4
16g.89275218delCA2634942604ANKRD11c.7471-22del (n.7471-22del)
c.*7274-22del (n.*7274-22del)
c.745-22del (n.745-22del)
c.152-22del
c.7369-22del (n.7369-22del)
c.7174-22del (n.7174-22del)
c.7342-22del (n.7342-22del)
gnomAD v4
16g.89275214G>ACA2634942605ANKRD11c.7471-23C>T (n.7471-23C>T)
c.*7274-23C>T (n.*7274-23C>T)
c.745-23C>T (n.745-23C>T)
c.152-23C>T
c.7369-23C>T (n.7369-23C>T)
c.7174-23C>T (n.7174-23C>T)
c.7342-23C>T (n.7342-23C>T)
dbSNP gnomAD v4
16g.89275214G>TCA2634942606ANKRD11c.7471-23C>A (n.7471-23C>A)
c.*7274-23C>A (n.*7274-23C>A)
c.745-23C>A (n.745-23C>A)
c.152-23C>A
c.7369-23C>A (n.7369-23C>A)
c.7174-23C>A (n.7174-23C>A)
c.7342-23C>A (n.7342-23C>A)
gnomAD v4
16g.89275215G>ACA2634942607ANKRD11c.7471-24C>T (n.7471-24C>T)
c.*7274-24C>T (n.*7274-24C>T)
c.745-24C>T (n.745-24C>T)
c.152-24C>T
c.7369-24C>T (n.7369-24C>T)
c.7174-24C>T (n.7174-24C>T)
c.7342-24C>T (n.7342-24C>T)
gnomAD v4
16g.89275215G>TCA2634942608ANKRD11c.7471-24C>A (n.7471-24C>A)
c.*7274-24C>A (n.*7274-24C>A)
c.745-24C>A (n.745-24C>A)
c.152-24C>A
c.7369-24C>A (n.7369-24C>A)
c.7174-24C>A (n.7174-24C>A)
c.7342-24C>A (n.7342-24C>A)
gnomAD v4
16g.89275216G>ACA624242537ANKRD11c.7471-25C>T (n.7471-25C>T)
c.*7274-25C>T (n.*7274-25C>T)
c.745-25C>T (n.745-25C>T)
c.152-25C>T
c.7369-25C>T (n.7369-25C>T)
c.7174-25C>T (n.7174-25C>T)
c.7342-25C>T (n.7342-25C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275216G=CA2241598829ANKRD11c.7471-25C= (n.7471-25C=)
c.*7274-25C= (n.*7274-25C=)
c.745-25C= (n.745-25C=)
c.152-25C=
c.7369-25C= (n.7369-25C=)
c.7174-25C= (n.7174-25C=)
c.7342-25C= (n.7342-25C=)
16g.89275216G>TCA2634942609ANKRD11c.7471-25C>A (n.7471-25C>A)
c.*7274-25C>A (n.*7274-25C>A)
c.745-25C>A (n.745-25C>A)
c.152-25C>A
c.7369-25C>A (n.7369-25C>A)
c.7174-25C>A (n.7174-25C>A)
c.7342-25C>A (n.7342-25C>A)
gnomAD v4
16g.89275217G>ACA2634942610ANKRD11c.7471-26C>T (n.7471-26C>T)
c.*7274-26C>T (n.*7274-26C>T)
c.745-26C>T (n.745-26C>T)
c.152-26C>T
c.7369-26C>T (n.7369-26C>T)
c.7174-26C>T (n.7174-26C>T)
c.7342-26C>T (n.7342-26C>T)
gnomAD v4
16g.89275217G>TCA2576097272ANKRD11c.7471-26C>A (n.7471-26C>A)
c.*7274-26C>A (n.*7274-26C>A)
c.745-26C>A (n.745-26C>A)
c.152-26C>A
c.7369-26C>A (n.7369-26C>A)
c.7174-26C>A (n.7174-26C>A)
c.7342-26C>A (n.7342-26C>A)
gnomAD v4
16g.89275218G>ACA2634942611ANKRD11c.7471-27C>T (n.7471-27C>T)
c.*7274-27C>T (n.*7274-27C>T)
c.745-27C>T (n.745-27C>T)
c.152-27C>T
c.7369-27C>T (n.7369-27C>T)
c.7174-27C>T (n.7174-27C>T)
c.7342-27C>T (n.7342-27C>T)
gnomAD v4
16g.89275218G=CA2241598830ANKRD11c.7471-27C= (n.7471-27C=)
c.*7274-27C= (n.*7274-27C=)
c.745-27C= (n.745-27C=)
c.152-27C=
c.7369-27C= (n.7369-27C=)
c.7174-27C= (n.7174-27C=)
c.7342-27C= (n.7342-27C=)
16g.89275218G>TCA980393735ANKRD11c.7471-27C>A (n.7471-27C>A)
c.*7274-27C>A (n.*7274-27C>A)
c.745-27C>A (n.745-27C>A)
c.152-27C>A
c.7369-27C>A (n.7369-27C>A)
c.7174-27C>A (n.7174-27C>A)
c.7342-27C>A (n.7342-27C>A)
dbSNP gnomAD v3 gnomAD v4
16g.89275219T>ACA2535532255ANKRD11c.7471-28A>T (n.7471-28A>T)
c.*7274-28A>T (n.*7274-28A>T)
c.745-28A>T (n.745-28A>T)
c.152-28A>T
c.7369-28A>T (n.7369-28A>T)
c.7174-28A>T (n.7174-28A>T)
c.7342-28A>T (n.7342-28A>T)
gnomAD v4
16g.89275219T>GCA2241598832ANKRD11c.7471-28A>C (n.7471-28A>C)
c.*7274-28A>C (n.*7274-28A>C)
c.745-28A>C (n.745-28A>C)
c.152-28A>C
c.7369-28A>C (n.7369-28A>C)
c.7174-28A>C (n.7174-28A>C)
c.7342-28A>C (n.7342-28A>C)
dbSNP
16g.89275219T=CA2241598831ANKRD11c.7471-28A= (n.7471-28A=)
c.*7274-28A= (n.*7274-28A=)
c.745-28A= (n.745-28A=)
c.152-28A=
c.7369-28A= (n.7369-28A=)
c.7174-28A= (n.7174-28A=)
c.7342-28A= (n.7342-28A=)
16g.89275220C>ACA2634942612ANKRD11c.7471-29G>T (n.7471-29G>T)
c.*7274-29G>T (n.*7274-29G>T)
c.745-29G>T (n.745-29G>T)
c.152-29G>T
c.7369-29G>T (n.7369-29G>T)
c.7174-29G>T (n.7174-29G>T)
c.7342-29G>T (n.7342-29G>T)
gnomAD v4
16g.89275220C>TCA2634942613ANKRD11c.7471-29G>A (n.7471-29G>A)
c.*7274-29G>A (n.*7274-29G>A)
c.745-29G>A (n.745-29G>A)
c.152-29G>A
c.7369-29G>A (n.7369-29G>A)
c.7174-29G>A (n.7174-29G>A)
c.7342-29G>A (n.7342-29G>A)
gnomAD v4
16g.89275221A=CA2241598833ANKRD11c.7471-30T= (n.7471-30T=)
c.*7274-30T= (n.*7274-30T=)
c.745-30T= (n.745-30T=)
c.152-30T=
c.7369-30T= (n.7369-30T=)
c.7174-30T= (n.7174-30T=)
c.7342-30T= (n.7342-30T=)
16g.89275221A>GCA2634942615ANKRD11c.7471-30T>C (n.7471-30T>C)
c.*7274-30T>C (n.*7274-30T>C)
c.745-30T>C (n.745-30T>C)
c.152-30T>C
c.7369-30T>C (n.7369-30T>C)
c.7174-30T>C (n.7174-30T>C)
c.7342-30T>C (n.7342-30T>C)
gnomAD v4
16g.89275221A>TCA2241598834ANKRD11c.7471-30T>A (n.7471-30T>A)
c.*7274-30T>A (n.*7274-30T>A)
c.745-30T>A (n.745-30T>A)
c.152-30T>A
c.7369-30T>A (n.7369-30T>A)
c.7174-30T>A (n.7174-30T>A)
c.7342-30T>A (n.7342-30T>A)
dbSNP gnomAD v4
16g.89275222G>ACA980393737ANKRD11c.7471-31C>T (n.7471-31C>T)
c.*7274-31C>T (n.*7274-31C>T)
c.745-31C>T (n.745-31C>T)
c.152-31C>T
c.7369-31C>T (n.7369-31C>T)
c.7174-31C>T (n.7174-31C>T)
c.7342-31C>T (n.7342-31C>T)
dbSNP gnomAD v3 gnomAD v4
16g.89275222G>CCA2634942617ANKRD11c.7471-31C>G (n.7471-31C>G)
c.*7274-31C>G (n.*7274-31C>G)
c.745-31C>G (n.745-31C>G)
c.152-31C>G
c.7369-31C>G (n.7369-31C>G)
c.7174-31C>G (n.7174-31C>G)
c.7342-31C>G (n.7342-31C>G)
gnomAD v4
16g.89275222G=CA2241598835ANKRD11c.7471-31C= (n.7471-31C=)
c.*7274-31C= (n.*7274-31C=)
c.745-31C= (n.745-31C=)
c.152-31C=
c.7369-31C= (n.7369-31C=)
c.7174-31C= (n.7174-31C=)
c.7342-31C= (n.7342-31C=)
16g.89275222G>TCA2634942616ANKRD11c.7471-31C>A (n.7471-31C>A)
c.*7274-31C>A (n.*7274-31C>A)
c.745-31C>A (n.745-31C>A)
c.152-31C>A
c.7369-31C>A (n.7369-31C>A)
c.7174-31C>A (n.7174-31C>A)
c.7342-31C>A (n.7342-31C>A)
gnomAD v4
16g.89275222dupCA2741510180ANKRD11c.7471-31dup (n.7471-31dup)
c.*7274-31dup (n.*7274-31dup)
c.745-31dup (n.745-31dup)
c.152-31dup
c.7369-31dup (n.7369-31dup)
c.7174-31dup (n.7174-31dup)
c.7342-31dup (n.7342-31dup)
16g.89275223C>ACA2634942618ANKRD11c.7471-32G>T (n.7471-32G>T)
c.*7274-32G>T (n.*7274-32G>T)
c.745-32G>T (n.745-32G>T)
c.152-32G>T
c.7369-32G>T (n.7369-32G>T)
c.7174-32G>T (n.7174-32G>T)
c.7342-32G>T (n.7342-32G>T)
gnomAD v4
16g.89275223C=CA2241598836ANKRD11c.7471-32G= (n.7471-32G=)
c.*7274-32G= (n.*7274-32G=)
c.745-32G= (n.745-32G=)
c.152-32G=
c.7369-32G= (n.7369-32G=)
c.7174-32G= (n.7174-32G=)
c.7342-32G= (n.7342-32G=)
16g.89275223C>GCA8241139ANKRD11c.7471-32G>C (n.7471-32G>C)
c.*7274-32G>C (n.*7274-32G>C)
c.745-32G>C (n.745-32G>C)
c.152-32G>C
c.7369-32G>C (n.7369-32G>C)
c.7174-32G>C (n.7174-32G>C)
c.7342-32G>C (n.7342-32G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275223C>TCA980393742ANKRD11c.7471-32G>A (n.7471-32G>A)
c.*7274-32G>A (n.*7274-32G>A)
c.745-32G>A (n.745-32G>A)
c.152-32G>A
c.7369-32G>A (n.7369-32G>A)
c.7174-32G>A (n.7174-32G>A)
c.7342-32G>A (n.7342-32G>A)
dbSNP gnomAD v3 gnomAD v4
16g.89275223_89275224insGGGCA2741510181ANKRD11c.7471-33_7471-32insCCC (n.7471-33_7471-32insCCC)
c.*7274-33_*7274-32insCCC (n.*7274-33_*7274-32insCCC)
c.745-33_745-32insCCC (n.745-33_745-32insCCC)
c.152-33_152-32insCCC
c.7369-33_7369-32insCCC (n.7369-33_7369-32insCCC)
c.7174-33_7174-32insCCC (n.7174-33_7174-32insCCC)
c.7342-33_7342-32insCCC (n.7342-33_7342-32insCCC)
16g.89275224T>CCA2634942619ANKRD11c.7471-33A>G (n.7471-33A>G)
c.*7274-33A>G (n.*7274-33A>G)
c.745-33A>G (n.745-33A>G)
c.152-33A>G
c.7369-33A>G (n.7369-33A>G)
c.7174-33A>G (n.7174-33A>G)
c.7342-33A>G (n.7342-33A>G)
gnomAD v4
16g.89275225G>ACA725698291ANKRD11c.7471-34C>T (n.7471-34C>T)
c.*7274-34C>T (n.*7274-34C>T)
c.745-34C>T (n.745-34C>T)
c.152-34C>T
c.7369-34C>T (n.7369-34C>T)
c.7174-34C>T (n.7174-34C>T)
c.7342-34C>T (n.7342-34C>T)
dbSNP gnomAD v3 gnomAD v4
16g.89275225G=CA2241598837ANKRD11c.7471-34C= (n.7471-34C=)
c.*7274-34C= (n.*7274-34C=)
c.745-34C= (n.745-34C=)
c.152-34C=
c.7369-34C= (n.7369-34C=)
c.7174-34C= (n.7174-34C=)
c.7342-34C= (n.7342-34C=)
16g.89275225G>TCA2634942621ANKRD11c.7471-34C>A (n.7471-34C>A)
c.*7274-34C>A (n.*7274-34C>A)
c.745-34C>A (n.745-34C>A)
c.152-34C>A
c.7369-34C>A (n.7369-34C>A)
c.7174-34C>A (n.7174-34C>A)
c.7342-34C>A (n.7342-34C>A)
gnomAD v4
16g.89275227_89275228delCA2634942620ANKRD11c.7471-35_7471-34del (n.7471-35_7471-34del)
c.*7274-35_*7274-34del (n.*7274-35_*7274-34del)
c.745-35_745-34del (n.745-35_745-34del)
c.152-35_152-34del
c.7369-35_7369-34del (n.7369-35_7369-34del)
c.7174-35_7174-34del (n.7174-35_7174-34del)
c.7342-35_7342-34del (n.7342-35_7342-34del)
gnomAD v4
16g.89275226G>ACA624242538ANKRD11c.7471-35C>T (n.7471-35C>T)
c.*7274-35C>T (n.*7274-35C>T)
c.745-35C>T (n.745-35C>T)
c.152-35C>T
c.7369-35C>T (n.7369-35C>T)
c.7174-35C>T (n.7174-35C>T)
c.7342-35C>T (n.7342-35C>T)
dbSNP gnomAD v2 gnomAD v4
16g.89275226G=CA2241598838ANKRD11c.7471-35C= (n.7471-35C=)
c.*7274-35C= (n.*7274-35C=)
c.745-35C= (n.745-35C=)
c.152-35C=
c.7369-35C= (n.7369-35C=)
c.7174-35C= (n.7174-35C=)
c.7342-35C= (n.7342-35C=)
16g.89275226G>TCA2634942623ANKRD11c.7471-35C>A (n.7471-35C>A)
c.*7274-35C>A (n.*7274-35C>A)
c.745-35C>A (n.745-35C>A)
c.152-35C>A
c.7369-35C>A (n.7369-35C>A)
c.7174-35C>A (n.7174-35C>A)
c.7342-35C>A (n.7342-35C>A)
gnomAD v4
16g.89275227_89275228insCAAAAATAAAAAATTAAAATTAAAAAACACACAAAAAGGCA2741510182ANKRD11c.7471-35_7471-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.7471-35_7471-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
c.*7274-35_*7274-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.*7274-35_*7274-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
c.745-35_745-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.745-35_745-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
c.152-35_152-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC
c.7369-35_7369-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.7369-35_7369-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
c.7174-35_7174-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.7174-35_7174-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
c.7342-35_7342-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC (n.7342-35_7342-34insTTTTTGTGTGTTTTTTAATTTTAATTTTTTATTTTTGCC)
16g.89275227G>CCA2634942624ANKRD11c.7471-36C>G (n.7471-36C>G)
c.*7274-36C>G (n.*7274-36C>G)
c.745-36C>G (n.745-36C>G)
c.152-36C>G
c.7369-36C>G (n.7369-36C>G)
c.7174-36C>G (n.7174-36C>G)
c.7342-36C>G (n.7342-36C>G)
gnomAD v4
16g.89275227G>TCA2576097273ANKRD11c.7471-36C>A (n.7471-36C>A)
c.*7274-36C>A (n.*7274-36C>A)
c.745-36C>A (n.745-36C>A)
c.152-36C>A
c.7369-36C>A (n.7369-36C>A)
c.7174-36C>A (n.7174-36C>A)
c.7342-36C>A (n.7342-36C>A)
gnomAD v4
16g.89275228G>ACA624242539ANKRD11c.7471-37C>T (n.7471-37C>T)
c.*7274-37C>T (n.*7274-37C>T)
c.745-37C>T (n.745-37C>T)
c.152-37C>T
c.7369-37C>T (n.7369-37C>T)
c.7174-37C>T (n.7174-37C>T)
c.7342-37C>T (n.7342-37C>T)
dbSNP gnomAD v2 gnomAD v4
16g.89275228G=CA2241598839ANKRD11c.7471-37C= (n.7471-37C=)
c.*7274-37C= (n.*7274-37C=)
c.745-37C= (n.745-37C=)
c.152-37C=
c.7369-37C= (n.7369-37C=)
c.7174-37C= (n.7174-37C=)
c.7342-37C= (n.7342-37C=)
16g.89275228G>TCA2634942625ANKRD11c.7471-37C>A (n.7471-37C>A)
c.*7274-37C>A (n.*7274-37C>A)
c.745-37C>A (n.745-37C>A)
c.152-37C>A
c.7369-37C>A (n.7369-37C>A)
c.7174-37C>A (n.7174-37C>A)
c.7342-37C>A (n.7342-37C>A)
gnomAD v4
16g.89275229C>ACA2634942626ANKRD11c.7471-38G>T (n.7471-38G>T)
c.*7274-38G>T (n.*7274-38G>T)
c.745-38G>T (n.745-38G>T)
c.152-38G>T
c.7369-38G>T (n.7369-38G>T)
c.7174-38G>T (n.7174-38G>T)
c.7342-38G>T (n.7342-38G>T)
gnomAD v4
16g.89275229C>TCA2634942627ANKRD11c.7471-38G>A (n.7471-38G>A)
c.*7274-38G>A (n.*7274-38G>A)
c.745-38G>A (n.745-38G>A)
c.152-38G>A
c.7369-38G>A (n.7369-38G>A)
c.7174-38G>A (n.7174-38G>A)
c.7342-38G>A (n.7342-38G>A)
gnomAD v4
16g.89275230T>ACA2634942628ANKRD11c.7471-39A>T (n.7471-39A>T)
c.*7274-39A>T (n.*7274-39A>T)
c.745-39A>T (n.745-39A>T)
c.152-39A>T
c.7369-39A>T (n.7369-39A>T)
c.7174-39A>T (n.7174-39A>T)
c.7342-39A>T (n.7342-39A>T)
gnomAD v4
16g.89275230T>CCA2634942629ANKRD11c.7471-39A>G (n.7471-39A>G)
c.*7274-39A>G (n.*7274-39A>G)
c.745-39A>G (n.745-39A>G)
c.152-39A>G
c.7369-39A>G (n.7369-39A>G)
c.7174-39A>G (n.7174-39A>G)
c.7342-39A>G (n.7342-39A>G)
gnomAD v4
16g.89275231G>ACA2634942630ANKRD11c.7471-40C>T (n.7471-40C>T)
c.*7274-40C>T (n.*7274-40C>T)
c.745-40C>T (n.745-40C>T)
c.152-40C>T
c.7369-40C>T (n.7369-40C>T)
c.7174-40C>T (n.7174-40C>T)
c.7342-40C>T (n.7342-40C>T)
gnomAD v4
16g.89275231G>TCA2634942631ANKRD11c.7471-40C>A (n.7471-40C>A)
c.*7274-40C>A (n.*7274-40C>A)
c.745-40C>A (n.745-40C>A)
c.152-40C>A
c.7369-40C>A (n.7369-40C>A)
c.7174-40C>A (n.7174-40C>A)
c.7342-40C>A (n.7342-40C>A)
gnomAD v4
16g.89275232T>ACA2634942632ANKRD11c.7471-41A>T (n.7471-41A>T)
c.*7274-41A>T (n.*7274-41A>T)
c.745-41A>T (n.745-41A>T)
c.152-41A>T
c.7369-41A>T (n.7369-41A>T)
c.7174-41A>T (n.7174-41A>T)
c.7342-41A>T (n.7342-41A>T)
gnomAD v4
16g.89275232T=CA2241598840ANKRD11c.7471-41A= (n.7471-41A=)
c.*7274-41A= (n.*7274-41A=)
c.745-41A= (n.745-41A=)
c.152-41A=
c.7369-41A= (n.7369-41A=)
c.7174-41A= (n.7174-41A=)
c.7342-41A= (n.7342-41A=)
16g.89275233G>ACA2634942634ANKRD11c.7471-42C>T (n.7471-42C>T)
c.*7274-42C>T (n.*7274-42C>T)
c.745-42C>T (n.745-42C>T)
c.152-42C>T
c.7369-42C>T (n.7369-42C>T)
c.7174-42C>T (n.7174-42C>T)
c.7342-42C>T (n.7342-42C>T)
gnomAD v4
16g.89275233G>CCA286505959ANKRD11c.7471-42C>G (n.7471-42C>G)
c.*7274-42C>G (n.*7274-42C>G)
c.745-42C>G (n.745-42C>G)
c.152-42C>G
c.7369-42C>G (n.7369-42C>G)
c.7174-42C>G (n.7174-42C>G)
c.7342-42C>G (n.7342-42C>G)
dbSNP
16g.89275233G=CA2241598841ANKRD11c.7471-42C= (n.7471-42C=)
c.*7274-42C= (n.*7274-42C=)
c.745-42C= (n.745-42C=)
c.152-42C=
c.7369-42C= (n.7369-42C=)
c.7174-42C= (n.7174-42C=)
c.7342-42C= (n.7342-42C=)
16g.89275234dupCA624242540ANKRD11c.7471-42dup (n.7471-42dup)
c.*7274-42dup (n.*7274-42dup)
c.745-42dup (n.745-42dup)
c.152-42dup
c.7369-42dup (n.7369-42dup)
c.7174-42dup (n.7174-42dup)
c.7342-42dup (n.7342-42dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275234delCA2634942633ANKRD11c.7471-42del (n.7471-42del)
c.*7274-42del (n.*7274-42del)
c.745-42del (n.745-42del)
c.152-42del
c.7369-42del (n.7369-42del)
c.7174-42del (n.7174-42del)
c.7342-42del (n.7342-42del)
gnomAD v4
16g.89275234G>ACA2634942635ANKRD11c.7471-43C>T (n.7471-43C>T)
c.*7274-43C>T (n.*7274-43C>T)
c.745-43C>T (n.745-43C>T)
c.152-43C>T
c.7369-43C>T (n.7369-43C>T)
c.7174-43C>T (n.7174-43C>T)
c.7342-43C>T (n.7342-43C>T)
gnomAD v4
16g.89275234G>TCA2634942636ANKRD11c.7471-43C>A (n.7471-43C>A)
c.*7274-43C>A (n.*7274-43C>A)
c.745-43C>A (n.745-43C>A)
c.152-43C>A
c.7369-43C>A (n.7369-43C>A)
c.7174-43C>A (n.7174-43C>A)
c.7342-43C>A (n.7342-43C>A)
gnomAD v4
16g.89275235A=CA2241598842ANKRD11c.7471-44T= (n.7471-44T=)
c.*7274-44T= (n.*7274-44T=)
c.745-44T= (n.745-44T=)
c.152-44T=
c.7369-44T= (n.7369-44T=)
c.7174-44T= (n.7174-44T=)
c.7342-44T= (n.7342-44T=)
16g.89275235A>GCA624242541ANKRD11c.7471-44T>C (n.7471-44T>C)
c.*7274-44T>C (n.*7274-44T>C)
c.745-44T>C (n.745-44T>C)
c.152-44T>C
c.7369-44T>C (n.7369-44T>C)
c.7174-44T>C (n.7174-44T>C)
c.7342-44T>C (n.7342-44T>C)
dbSNP gnomAD v2 gnomAD v4
16g.89275237C>ACA2634942638ANKRD11c.7471-46G>T (n.7471-46G>T)
c.*7274-46G>T (n.*7274-46G>T)
c.745-46G>T (n.745-46G>T)
c.152-46G>T
c.7369-46G>T (n.7369-46G>T)
c.7174-46G>T (n.7174-46G>T)
c.7342-46G>T (n.7342-46G>T)
gnomAD v4
16g.89275237C>GCA2634942639ANKRD11c.7471-46G>C (n.7471-46G>C)
c.*7274-46G>C (n.*7274-46G>C)
c.745-46G>C (n.745-46G>C)
c.152-46G>C
c.7369-46G>C (n.7369-46G>C)
c.7174-46G>C (n.7174-46G>C)
c.7342-46G>C (n.7342-46G>C)
gnomAD v4
16g.89275237C>TCA2634942637ANKRD11c.7471-46G>A (n.7471-46G>A)
c.*7274-46G>A (n.*7274-46G>A)
c.745-46G>A (n.745-46G>A)
c.152-46G>A
c.7369-46G>A (n.7369-46G>A)
c.7174-46G>A (n.7174-46G>A)
c.7342-46G>A (n.7342-46G>A)
gnomAD v4
16g.89275238T>ACA624242542ANKRD11c.7471-47A>T (n.7471-47A>T)
c.*7274-47A>T (n.*7274-47A>T)
c.745-47A>T (n.745-47A>T)
c.152-47A>T
c.7369-47A>T (n.7369-47A>T)
c.7174-47A>T (n.7174-47A>T)
c.7342-47A>T (n.7342-47A>T)
dbSNP gnomAD v2 gnomAD v4
16g.89275238T>CCA2576097274ANKRD11c.7471-47A>G (n.7471-47A>G)
c.*7274-47A>G (n.*7274-47A>G)
c.745-47A>G (n.745-47A>G)
c.152-47A>G
c.7369-47A>G (n.7369-47A>G)
c.7174-47A>G (n.7174-47A>G)
c.7342-47A>G (n.7342-47A>G)
gnomAD v4
16g.89275238T=CA2241598843ANKRD11c.7471-47A= (n.7471-47A=)
c.*7274-47A= (n.*7274-47A=)
c.745-47A= (n.745-47A=)
c.152-47A=
c.7369-47A= (n.7369-47A=)
c.7174-47A= (n.7174-47A=)
c.7342-47A= (n.7342-47A=)
16g.89275239G>ACA2634942641ANKRD11c.7471-48C>T (n.7471-48C>T)
c.*7274-48C>T (n.*7274-48C>T)
c.745-48C>T (n.745-48C>T)
c.152-48C>T
c.7369-48C>T (n.7369-48C>T)
c.7174-48C>T (n.7174-48C>T)
c.7342-48C>T (n.7342-48C>T)
gnomAD v4
16g.89275239G>CCA624242543ANKRD11c.7471-48C>G (n.7471-48C>G)
c.*7274-48C>G (n.*7274-48C>G)
c.745-48C>G (n.745-48C>G)
c.152-48C>G
c.7369-48C>G (n.7369-48C>G)
c.7174-48C>G (n.7174-48C>G)
c.7342-48C>G (n.7342-48C>G)
dbSNP gnomAD v2 gnomAD v4
16g.89275239G=CA2241598844ANKRD11c.7471-48C= (n.7471-48C=)
c.*7274-48C= (n.*7274-48C=)
c.745-48C= (n.745-48C=)
c.152-48C=
c.7369-48C= (n.7369-48C=)
c.7174-48C= (n.7174-48C=)
c.7342-48C= (n.7342-48C=)
16g.89275239G>TCA2241598845ANKRD11c.7471-48C>A (n.7471-48C>A)
c.*7274-48C>A (n.*7274-48C>A)
c.745-48C>A (n.745-48C>A)
c.152-48C>A
c.7369-48C>A (n.7369-48C>A)
c.7174-48C>A (n.7174-48C>A)
c.7342-48C>A (n.7342-48C>A)
dbSNP gnomAD v4
16g.89275240C>ACA2634942643ANKRD11c.7471-49G>T (n.7471-49G>T)
c.*7274-49G>T (n.*7274-49G>T)
c.745-49G>T (n.745-49G>T)
c.152-49G>T
c.7369-49G>T (n.7369-49G>T)
c.7174-49G>T (n.7174-49G>T)
c.7342-49G>T (n.7342-49G>T)
gnomAD v4
16g.89275241A>GCA2634942644ANKRD11c.7471-50T>C (n.7471-50T>C)
c.*7274-50T>C (n.*7274-50T>C)
c.745-50T>C (n.745-50T>C)
c.152-50T>C
c.7369-50T>C (n.7369-50T>C)
c.7174-50T>C (n.7174-50T>C)
c.7342-50T>C (n.7342-50T>C)
gnomAD v4
16g.89275241A>TCA2634942645ANKRD11c.7471-50T>A (n.7471-50T>A)
c.*7274-50T>A (n.*7274-50T>A)
c.745-50T>A (n.745-50T>A)
c.152-50T>A
c.7369-50T>A (n.7369-50T>A)
c.7174-50T>A (n.7174-50T>A)
c.7342-50T>A (n.7342-50T>A)
gnomAD v4
16g.89275242C>ACA624242544ANKRD11c.7471-51G>T (n.7471-51G>T)
c.*7274-51G>T (n.*7274-51G>T)
c.745-51G>T (n.745-51G>T)
c.152-51G>T
c.7369-51G>T (n.7369-51G>T)
c.7174-51G>T (n.7174-51G>T)
c.7342-51G>T (n.7342-51G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89275242C=CA2241598846ANKRD11c.7471-51G= (n.7471-51G=)
c.*7274-51G= (n.*7274-51G=)
c.745-51G= (n.745-51G=)
c.152-51G=
c.7369-51G= (n.7369-51G=)
c.7174-51G= (n.7174-51G=)
c.7342-51G= (n.7342-51G=)
16g.89275242C>TCA8241140ANKRD11c.7471-51G>A (n.7471-51G>A)
c.*7274-51G>A (n.*7274-51G>A)
c.745-51G>A (n.745-51G>A)
c.152-51G>A
c.7369-51G>A (n.7369-51G>A)
c.7174-51G>A (n.7174-51G>A)
c.7342-51G>A (n.7342-51G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89275243G>ACA497168811ANKRD11c.7471-52C>T (n.7471-52C>T)
c.*7274-52C>T (n.*7274-52C>T)
c.745-52C>T (n.745-52C>T)
c.152-52C>T
c.7369-52C>T (n.7369-52C>T)
c.7174-52C>T (n.7174-52C>T)
c.7342-52C>T (n.7342-52C>T)
dbSNP gnomAD v2 gnomAD v4
16g.89275243G=CA2241598847ANKRD11c.7471-52C= (n.7471-52C=)
c.*7274-52C= (n.*7274-52C=)
c.745-52C= (n.745-52C=)
c.152-52C=
c.7369-52C= (n.7369-52C=)
c.7174-52C= (n.7174-52C=)
c.7342-52C= (n.7342-52C=)
16g.89275243G>TCA2634942646ANKRD11c.7471-52C>A (n.7471-52C>A)
c.*7274-52C>A (n.*7274-52C>A)
c.745-52C>A (n.745-52C>A)
c.152-52C>A
c.7369-52C>A (n.7369-52C>A)
c.7174-52C>A (n.7174-52C>A)
c.7342-52C>A (n.7342-52C>A)
gnomAD v4
16g.89275246G>ACA286505962ANKRD11c.7471-55C>T (n.7471-55C>T)
c.*7274-55C>T (n.*7274-55C>T)
c.745-55C>T (n.745-55C>T)
c.152-55C>T
c.7369-55C>T (n.7369-55C>T)
c.7174-55C>T (n.7174-55C>T)
c.7342-55C>T (n.7342-55C>T)
dbSNP
16g.89275246G=CA2241598848ANKRD11c.7471-55C= (n.7471-55C=)
c.*7274-55C= (n.*7274-55C=)
c.745-55C= (n.745-55C=)
c.152-55C=
c.7369-55C= (n.7369-55C=)
c.7174-55C= (n.7174-55C=)
c.7342-55C= (n.7342-55C=)
16g.89275246G>TCA2634942648ANKRD11c.7471-55C>A (n.7471-55C>A)
c.*7274-55C>A (n.*7274-55C>A)
c.745-55C>A (n.745-55C>A)
c.152-55C>A
c.7369-55C>A (n.7369-55C>A)
c.7174-55C>A (n.7174-55C>A)
c.7342-55C>A (n.7342-55C>A)
gnomAD v4
16g.89275249_89275259delCA2634942647ANKRD11c.7471-65_7471-55del (n.7471-65_7471-55del)
c.*7274-65_*7274-55del (n.*7274-65_*7274-55del)
c.745-65_745-55del (n.745-65_745-55del)
c.152-65_152-55del
c.7369-65_7369-55del (n.7369-65_7369-55del)
c.7174-65_7174-55del (n.7174-65_7174-55del)
c.7342-65_7342-55del (n.7342-65_7342-55del)
gnomAD v4
16g.89275247G>ACA2634942651ANKRD11c.7471-56C>T (n.7471-56C>T)
c.*7274-56C>T (n.*7274-56C>T)
c.745-56C>T (n.745-56C>T)
c.152-56C>T
c.7369-56C>T (n.7369-56C>T)
c.7174-56C>T (n.7174-56C>T)
c.7342-56C>T (n.7342-56C>T)
gnomAD v4
16g.89275247G>CCA2634942650ANKRD11c.7471-56C>G (n.7471-56C>G)
c.*7274-56C>G (n.*7274-56C>G)
c.745-56C>G (n.745-56C>G)
c.152-56C>G
c.7369-56C>G (n.7369-56C>G)
c.7174-56C>G (n.7174-56C>G)
c.7342-56C>G (n.7342-56C>G)
gnomAD v4
16g.89275248A>GCA2634942652ANKRD11c.7471-57T>C (n.7471-57T>C)
c.*7274-57T>C (n.*7274-57T>C)
c.745-57T>C (n.745-57T>C)
c.152-57T>C
c.7369-57T>C (n.7369-57T>C)
c.7174-57T>C (n.7174-57T>C)
c.7342-57T>C (n.7342-57T>C)
gnomAD v4
16g.89275249T>CCA2576097276ANKRD11c.7471-58A>G (n.7471-58A>G)
c.*7274-58A>G (n.*7274-58A>G)
c.745-58A>G (n.745-58A>G)
c.152-58A>G
c.7369-58A>G (n.7369-58A>G)
c.7174-58A>G (n.7174-58A>G)
c.7342-58A>G (n.7342-58A>G)
16g.89275249T>GCA2733138483ANKRD11c.7471-58A>C (n.7471-58A>C)
c.*7274-58A>C (n.*7274-58A>C)
c.745-58A>C (n.745-58A>C)
c.152-58A>C
c.7369-58A>C (n.7369-58A>C)
c.7174-58A>C (n.7174-58A>C)
c.7342-58A>C (n.7342-58A>C)
dbSNP

Number of alleles fetched