Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89279310_89279330dupCA8241270ANKRD11c.7212_7232dup (p.Val2410_Ile2411insMetGlnGlnThrArgGluVal)
c.*7015_*7035dup (n.*7015_*7035dup)
c.745-4139_745-4119dup (n.745-4139_745-4119dup)
c.152-4139_152-4119dup
n.387_407dup
c.7110_7130dup (p.Val2376_Ile2377insMetGlnGlnThrArgGluVal)
c.6915_6935dup (p.Val2311_Ile2312insMetGlnGlnThrArgGluVal)
c.7083_7103dup (p.Val2367_Ile2368insMetGlnGlnThrArgGluVal)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.89279330C>ACA497372483ANKRD11c.7212G>T (p.Thr2404=)
c.*7015G>T (n.*7015G>T)
c.745-4139G>T (n.745-4139G>T)
c.152-4139G>T
n.387G>T
c.7110G>T (p.Thr2370=)
c.6915G>T (p.Thr2305=)
c.7083G>T (p.Thr2361=)
 gnomAD v4
16g.89279330C=CA2241586640ANKRD11c.7212G= (p.Thr2404=)
c.*7015G= (n.*7015G=)
c.745-4139G= (n.745-4139G=)
c.152-4139G=
n.387G=
c.7110G= (p.Thr2370=)
c.6915G= (p.Thr2305=)
c.7083G= (p.Thr2361=)
16g.89279330C>GCA497372484ANKRD11c.7212G>C (p.Thr2404=)
c.*7015G>C (n.*7015G>C)
c.745-4139G>C (n.745-4139G>C)
c.152-4139G>C
n.387G>C
c.7110G>C (p.Thr2370=)
c.6915G>C (p.Thr2305=)
c.7083G>C (p.Thr2361=)
16g.89279330C>TCA8241278ANKRD11c.7212G>A (p.Thr2404=)
c.*7015G>A (n.*7015G>A)
c.745-4139G>A (n.745-4139G>A)
c.152-4139G>A
n.387G>A
c.7110G>A (p.Thr2370=)
c.6915G>A (p.Thr2305=)
c.7083G>A (p.Thr2361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89279331G>ACA397148927ANKRD11c.7211C>T (p.Thr2404Met)
c.*7014C>T (n.*7014C>T)
c.745-4140C>T (n.745-4140C>T)
c.152-4140C>T
n.386C>T
c.7109C>T (p.Thr2370Met)
c.6914C>T (p.Thr2305Met)
c.7082C>T (p.Thr2361Met)
 gnomAD v4
16g.89279331G>CCA397148928ANKRD11c.7211C>G (p.Thr2404Arg)
c.*7014C>G (n.*7014C>G)
c.745-4140C>G (n.745-4140C>G)
c.152-4140C>G
n.386C>G
c.7109C>G (p.Thr2370Arg)
c.6914C>G (p.Thr2305Arg)
c.7082C>G (p.Thr2361Arg)
16g.89279331G>TCA397148930ANKRD11c.7211C>A (p.Thr2404Lys)
c.*7014C>A (n.*7014C>A)
c.745-4140C>A (n.745-4140C>A)
c.152-4140C>A
n.386C>A
c.7109C>A (p.Thr2370Lys)
c.6914C>A (p.Thr2305Lys)
c.7082C>A (p.Thr2361Lys)
16g.89279332T>ACA397148932ANKRD11c.7210A>T (p.Thr2404Ser)
c.*7013A>T (n.*7013A>T)
c.745-4141A>T (n.745-4141A>T)
c.152-4141A>T
n.385A>T
c.7108A>T (p.Thr2370Ser)
c.6913A>T (p.Thr2305Ser)
c.7081A>T (p.Thr2361Ser)
16g.89279332T>CCA8241279ANKRD11c.7210A>G (p.Thr2404Ala)
c.*7013A>G (n.*7013A>G)
c.745-4141A>G (n.745-4141A>G)
c.152-4141A>G
n.385A>G
c.7108A>G (p.Thr2370Ala)
c.6913A>G (p.Thr2305Ala)
c.7081A>G (p.Thr2361Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279332T>GCA397148934ANKRD11c.7210A>C (p.Thr2404Pro)
c.*7013A>C (n.*7013A>C)
c.745-4141A>C (n.745-4141A>C)
c.152-4141A>C
n.385A>C
c.7108A>C (p.Thr2370Pro)
c.6913A>C (p.Thr2305Pro)
c.7081A>C (p.Thr2361Pro)
16g.89279332T=CA2241586641ANKRD11c.7210A= (p.Thr2404=)
c.*7013A= (n.*7013A=)
c.745-4141A= (n.745-4141A=)
c.152-4141A=
n.385A=
c.7108A= (p.Thr2370=)
c.6913A= (p.Thr2305=)
c.7081A= (p.Thr2361=)
16g.89279333G>ACA497372489ANKRD11c.7209C>T (p.Ser2403=)
c.*7012C>T (n.*7012C>T)
c.745-4142C>T (n.745-4142C>T)
c.152-4142C>T
n.384C>T
c.7107C>T (p.Ser2369=)
c.6912C>T (p.Ser2304=)
c.7080C>T (p.Ser2360=)
 gnomAD v4
16g.89279333G>CCA497372490ANKRD11c.7209C>G (p.Ser2403=)
c.*7012C>G (n.*7012C>G)
c.745-4142C>G (n.745-4142C>G)
c.152-4142C>G
n.384C>G
c.7107C>G (p.Ser2369=)
c.6912C>G (p.Ser2304=)
c.7080C>G (p.Ser2360=)
16g.89279333G>TCA497372492ANKRD11c.7209C>A (p.Ser2403=)
c.*7012C>A (n.*7012C>A)
c.745-4142C>A (n.745-4142C>A)
c.152-4142C>A
n.384C>A
c.7107C>A (p.Ser2369=)
c.6912C>A (p.Ser2304=)
c.7080C>A (p.Ser2360=)
16g.89279334G>ACA397148936ANKRD11c.7208C>T (p.Ser2403Phe)
c.*7011C>T (n.*7011C>T)
c.745-4143C>T (n.745-4143C>T)
c.152-4143C>T
n.383C>T
c.7106C>T (p.Ser2369Phe)
c.6911C>T (p.Ser2304Phe)
c.7079C>T (p.Ser2360Phe)
 gnomAD v4
16g.89279334G>CCA397148938ANKRD11c.7208C>G (p.Ser2403Cys)
c.*7011C>G (n.*7011C>G)
c.745-4143C>G (n.745-4143C>G)
c.152-4143C>G
n.383C>G
c.7106C>G (p.Ser2369Cys)
c.6911C>G (p.Ser2304Cys)
c.7079C>G (p.Ser2360Cys)
16g.89279334G>TCA397148940ANKRD11c.7208C>A (p.Ser2403Tyr)
c.*7011C>A (n.*7011C>A)
c.745-4143C>A (n.745-4143C>A)
c.152-4143C>A
n.383C>A
c.7106C>A (p.Ser2369Tyr)
c.6911C>A (p.Ser2304Tyr)
c.7079C>A (p.Ser2360Tyr)
 gnomAD v4
16g.89279335A=CA2241586642ANKRD11c.7207T= (p.Ser2403=)
c.*7010T= (n.*7010T=)
c.745-4144T= (n.745-4144T=)
c.152-4144T=
n.382T=
c.7105T= (p.Ser2369=)
c.6910T= (p.Ser2304=)
c.7078T= (p.Ser2360=)
16g.89279335A>CCA397148942ANKRD11c.7207T>G (p.Ser2403Ala)
c.*7010T>G (n.*7010T>G)
c.745-4144T>G (n.745-4144T>G)
c.152-4144T>G
n.382T>G
c.7105T>G (p.Ser2369Ala)
c.6910T>G (p.Ser2304Ala)
c.7078T>G (p.Ser2360Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.89279335A>GCA397148944ANKRD11c.7207T>C (p.Ser2403Pro)
c.*7010T>C (n.*7010T>C)
c.745-4144T>C (n.745-4144T>C)
c.152-4144T>C
n.382T>C
c.7105T>C (p.Ser2369Pro)
c.6910T>C (p.Ser2304Pro)
c.7078T>C (p.Ser2360Pro)
 gnomAD v4
16g.89279335A>TCA8241280ANKRD11c.7207T>A (p.Ser2403Thr)
c.*7010T>A (n.*7010T>A)
c.745-4144T>A (n.745-4144T>A)
c.152-4144T>A
n.382T>A
c.7105T>A (p.Ser2369Thr)
c.6910T>A (p.Ser2304Thr)
c.7078T>A (p.Ser2360Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279336C>ACA497372494ANKRD11c.7206G>T (p.Thr2402=)
c.*7009G>T (n.*7009G>T)
c.745-4145G>T (n.745-4145G>T)
c.152-4145G>T
n.381G>T
c.7104G>T (p.Thr2368=)
c.6909G>T (p.Thr2303=)
c.7077G>T (p.Thr2359=)
 gnomAD v4
16g.89279336C=CA2241586643ANKRD11c.7206G= (p.Thr2402=)
c.*7009G= (n.*7009G=)
c.745-4145G= (n.745-4145G=)
c.152-4145G=
n.381G=
c.7104G= (p.Thr2368=)
c.6909G= (p.Thr2303=)
c.7077G= (p.Thr2359=)
16g.89279336C>GCA497372495ANKRD11c.7206G>C (p.Thr2402=)
c.*7009G>C (n.*7009G>C)
c.745-4145G>C (n.745-4145G>C)
c.152-4145G>C
n.381G>C
c.7104G>C (p.Thr2368=)
c.6909G>C (p.Thr2303=)
c.7077G>C (p.Thr2359=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279336C>TCA8241281ANKRD11c.7206G>A (p.Thr2402=)
c.*7009G>A (n.*7009G>A)
c.745-4145G>A (n.745-4145G>A)
c.152-4145G>A
n.381G>A
c.7104G>A (p.Thr2368=)
c.6909G>A (p.Thr2303=)
c.7077G>A (p.Thr2359=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279337G>ACA397148948ANKRD11c.7205C>T (p.Thr2402Met)
c.*7008C>T (n.*7008C>T)
c.745-4146C>T (n.745-4146C>T)
c.152-4146C>T
n.380C>T
c.7103C>T (p.Thr2368Met)
c.6908C>T (p.Thr2303Met)
c.7076C>T (p.Thr2359Met)
16g.89279337G>CCA397148953ANKRD11c.7205C>G (p.Thr2402Arg)
c.*7008C>G (n.*7008C>G)
c.745-4146C>G (n.745-4146C>G)
c.152-4146C>G
n.380C>G
c.7103C>G (p.Thr2368Arg)
c.6908C>G (p.Thr2303Arg)
c.7076C>G (p.Thr2359Arg)
16g.89279337G>TCA397148951ANKRD11c.7205C>A (p.Thr2402Lys)
c.*7008C>A (n.*7008C>A)
c.745-4146C>A (n.745-4146C>A)
c.152-4146C>A
n.380C>A
c.7103C>A (p.Thr2368Lys)
c.6908C>A (p.Thr2303Lys)
c.7076C>A (p.Thr2359Lys)
16g.89279338T>ACA397148955ANKRD11c.7204A>T (p.Thr2402Ser)
c.*7007A>T (n.*7007A>T)
c.745-4147A>T (n.745-4147A>T)
c.152-4147A>T
n.379A>T
c.7102A>T (p.Thr2368Ser)
c.6907A>T (p.Thr2303Ser)
c.7075A>T (p.Thr2359Ser)
16g.89279338T>CCA397148958ANKRD11c.7204A>G (p.Thr2402Ala)
c.*7007A>G (n.*7007A>G)
c.745-4147A>G (n.745-4147A>G)
c.152-4147A>G
n.379A>G
c.7102A>G (p.Thr2368Ala)
c.6907A>G (p.Thr2303Ala)
c.7075A>G (p.Thr2359Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89279338T>GCA397148956ANKRD11c.7204A>C (p.Thr2402Pro)
c.*7007A>C (n.*7007A>C)
c.745-4147A>C (n.745-4147A>C)
c.152-4147A>C
n.379A>C
c.7102A>C (p.Thr2368Pro)
c.6907A>C (p.Thr2303Pro)
c.7075A>C (p.Thr2359Pro)
16g.89279338T=CA2241586644ANKRD11c.7204A= (p.Thr2402=)
c.*7007A= (n.*7007A=)
c.745-4147A= (n.745-4147A=)
c.152-4147A=
n.379A=
c.7102A= (p.Thr2368=)
c.6907A= (p.Thr2303=)
c.7075A= (p.Thr2359=)
16g.89279339G>ACA497372496ANKRD11c.7203C>T (p.Asn2401=)
c.*7006C>T (n.*7006C>T)
c.745-4148C>T (n.745-4148C>T)
c.152-4148C>T
n.378C>T
c.7101C>T (p.Asn2367=)
c.6906C>T (p.Asn2302=)
c.7074C>T (p.Asn2358=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279339G>CCA397148960ANKRD11c.7203C>G (p.Asn2401Lys)
c.*7006C>G (n.*7006C>G)
c.745-4148C>G (n.745-4148C>G)
c.152-4148C>G
n.378C>G
c.7101C>G (p.Asn2367Lys)
c.6906C>G (p.Asn2302Lys)
c.7074C>G (p.Asn2358Lys)
16g.89279339G=CA2241586645ANKRD11c.7203C= (p.Asn2401=)
c.*7006C= (n.*7006C=)
c.745-4148C= (n.745-4148C=)
c.152-4148C=
n.378C=
c.7101C= (p.Asn2367=)
c.6906C= (p.Asn2302=)
c.7074C= (p.Asn2358=)
16g.89279339G>TCA397148961ANKRD11c.7203C>A (p.Asn2401Lys)
c.*7006C>A (n.*7006C>A)
c.745-4148C>A (n.745-4148C>A)
c.152-4148C>A
n.378C>A
c.7101C>A (p.Asn2367Lys)
c.6906C>A (p.Asn2302Lys)
c.7074C>A (p.Asn2358Lys)
16g.89279340T>ACA397148962ANKRD11c.7202A>T (p.Asn2401Ile)
c.*7005A>T (n.*7005A>T)
c.745-4149A>T (n.745-4149A>T)
c.152-4149A>T
n.377A>T
c.7100A>T (p.Asn2367Ile)
c.6905A>T (p.Asn2302Ile)
c.7073A>T (p.Asn2358Ile)
16g.89279340T>CCA286509447ANKRD11c.7202A>G (p.Asn2401Ser)
c.*7005A>G (n.*7005A>G)
c.745-4149A>G (n.745-4149A>G)
c.152-4149A>G
n.377A>G
c.7100A>G (p.Asn2367Ser)
c.6905A>G (p.Asn2302Ser)
c.7073A>G (p.Asn2358Ser)
 dbSNP gnomAD v4
16g.89279340T>GCA397148965ANKRD11c.7202A>C (p.Asn2401Thr)
c.*7005A>C (n.*7005A>C)
c.745-4149A>C (n.745-4149A>C)
c.152-4149A>C
n.377A>C
c.7100A>C (p.Asn2367Thr)
c.6905A>C (p.Asn2302Thr)
c.7073A>C (p.Asn2358Thr)
16g.89279340T=CA2241586646ANKRD11c.7202A= (p.Asn2401=)
c.*7005A= (n.*7005A=)
c.745-4149A= (n.745-4149A=)
c.152-4149A=
n.377A=
c.7100A= (p.Asn2367=)
c.6905A= (p.Asn2302=)
c.7073A= (p.Asn2358=)
16g.89279341T>ACA397148967ANKRD11c.7201A>T (p.Asn2401Tyr)
c.*7004A>T (n.*7004A>T)
c.745-4150A>T (n.745-4150A>T)
c.152-4150A>T
n.376A>T
c.7099A>T (p.Asn2367Tyr)
c.6904A>T (p.Asn2302Tyr)
c.7072A>T (p.Asn2358Tyr)
16g.89279341T>CCA397148968ANKRD11c.7201A>G (p.Asn2401Asp)
c.*7004A>G (n.*7004A>G)
c.745-4150A>G (n.745-4150A>G)
c.152-4150A>G
n.376A>G
c.7099A>G (p.Asn2367Asp)
c.6904A>G (p.Asn2302Asp)
c.7072A>G (p.Asn2358Asp)
16g.89279341T>GCA397148969ANKRD11c.7201A>C (p.Asn2401His)
c.*7004A>C (n.*7004A>C)
c.745-4150A>C (n.745-4150A>C)
c.152-4150A>C
n.376A>C
c.7099A>C (p.Asn2367His)
c.6904A>C (p.Asn2302His)
c.7072A>C (p.Asn2358His)
16g.89279341T=CA2241586647ANKRD11c.7201A= (p.Asn2401=)
c.*7004A= (n.*7004A=)
c.745-4150A= (n.745-4150A=)
c.152-4150A=
n.376A=
c.7099A= (p.Asn2367=)
c.6904A= (p.Asn2302=)
c.7072A= (p.Asn2358=)
16g.89279342C>ACA497372503ANKRD11c.7200G>T (p.Leu2400=)
c.*7003G>T (n.*7003G>T)
c.745-4151G>T (n.745-4151G>T)
c.152-4151G>T
n.375G>T
c.7098G>T (p.Leu2366=)
c.6903G>T (p.Leu2301=)
c.7071G>T (p.Leu2357=)
16g.89279342C=CA2241586648ANKRD11c.7200G= (p.Leu2400=)
c.*7003G= (n.*7003G=)
c.745-4151G= (n.745-4151G=)
c.152-4151G=
n.375G=
c.7098G= (p.Leu2366=)
c.6903G= (p.Leu2301=)
c.7071G= (p.Leu2357=)
16g.89279342C>GCA497372505ANKRD11c.7200G>C (p.Leu2400=)
c.*7003G>C (n.*7003G>C)
c.745-4151G>C (n.745-4151G>C)
c.152-4151G>C
n.375G>C
c.7098G>C (p.Leu2366=)
c.6903G>C (p.Leu2301=)
c.7071G>C (p.Leu2357=)
16g.89279342C>TCA497372504ANKRD11c.7200G>A (p.Leu2400=)
c.*7003G>A (n.*7003G>A)
c.745-4151G>A (n.745-4151G>A)
c.152-4151G>A
n.375G>A
c.7098G>A (p.Leu2366=)
c.6903G>A (p.Leu2301=)
c.7071G>A (p.Leu2357=)
 dbSNP gnomAD v3 gnomAD v4
16g.89279343_89279345dupCA624452345ANKRD11c.7198_7200dup (p.Leu2400_Asn2401insLeu)
c.*7001_*7003dup (n.*7001_*7003dup)
c.745-4153_745-4151dup (n.745-4153_745-4151dup)
c.152-4153_152-4151dup
n.373_375dup
c.7096_7098dup (p.Leu2366_Asn2367insLeu)
c.6901_6903dup (p.Leu2301_Asn2302insLeu)
c.7069_7071dup (p.Leu2357_Asn2358insLeu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279351_89279362dupCA2697556039ANKRD11c.7189_7200dup (p.Leu2400_Asn2401insGlnGlnGlnLeu)
c.*6992_*7003dup (n.*6992_*7003dup)
c.745-4162_745-4151dup (n.745-4162_745-4151dup)
c.152-4162_152-4151dup
n.364_375dup
c.7087_7098dup (p.Leu2366_Asn2367insGlnGlnGlnLeu)
c.6892_6903dup (p.Leu2301_Asn2302insGlnGlnGlnLeu)
c.7060_7071dup (p.Leu2357_Asn2358insGlnGlnGlnLeu)
 ClinVar
16g.89279343A=CA2241586649ANKRD11c.7199T= (p.Leu2400=)
c.*7002T= (n.*7002T=)
c.745-4152T= (n.745-4152T=)
c.152-4152T=
n.374T=
c.7097T= (p.Leu2366=)
c.6902T= (p.Leu2301=)
c.7070T= (p.Leu2357=)
16g.89279343A>CCA397148971ANKRD11c.7199T>G (p.Leu2400Arg)
c.*7002T>G (n.*7002T>G)
c.745-4152T>G (n.745-4152T>G)
c.152-4152T>G
n.374T>G
c.7097T>G (p.Leu2366Arg)
c.6902T>G (p.Leu2301Arg)
c.7070T>G (p.Leu2357Arg)
16g.89279343A>GCA397148973ANKRD11c.7199T>C (p.Leu2400Pro)
c.*7002T>C (n.*7002T>C)
c.745-4152T>C (n.745-4152T>C)
c.152-4152T>C
n.374T>C
c.7097T>C (p.Leu2366Pro)
c.6902T>C (p.Leu2301Pro)
c.7070T>C (p.Leu2357Pro)
16g.89279343A>TCA397148974ANKRD11c.7199T>A (p.Leu2400Gln)
c.*7002T>A (n.*7002T>A)
c.745-4152T>A (n.745-4152T>A)
c.152-4152T>A
n.374T>A
c.7097T>A (p.Leu2366Gln)
c.6902T>A (p.Leu2301Gln)
c.7070T>A (p.Leu2357Gln)
 gnomAD v4
16g.89279344G>ACA8241282ANKRD11c.7198C>T (p.Leu2400=)
c.*7001C>T (n.*7001C>T)
c.745-4153C>T (n.745-4153C>T)
c.152-4153C>T
n.373C>T
c.7096C>T (p.Leu2366=)
c.6901C>T (p.Leu2301=)
c.7069C>T (p.Leu2357=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279344G>CCA286509453ANKRD11c.7198C>G (p.Leu2400Val)
c.*7001C>G (n.*7001C>G)
c.745-4153C>G (n.745-4153C>G)
c.152-4153C>G
n.373C>G
c.7096C>G (p.Leu2366Val)
c.6901C>G (p.Leu2301Val)
c.7069C>G (p.Leu2357Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89279344G=CA2241586650ANKRD11c.7198C= (p.Leu2400=)
c.*7001C= (n.*7001C=)
c.745-4153C= (n.745-4153C=)
c.152-4153C=
n.373C=
c.7096C= (p.Leu2366=)
c.6901C= (p.Leu2301=)
c.7069C= (p.Leu2357=)
16g.89279344G>TCA397148977ANKRD11c.7198C>A (p.Leu2400Met)
c.*7001C>A (n.*7001C>A)
c.745-4153C>A (n.745-4153C>A)
c.152-4153C>A
n.373C>A
c.7096C>A (p.Leu2366Met)
c.6901C>A (p.Leu2301Met)
c.7069C>A (p.Leu2357Met)
16g.89279352_89279354dupCA624452346ANKRD11c.7196_7198dup (p.Gln2399_Leu2400insGln)
c.*6999_*7001dup (n.*6999_*7001dup)
c.745-4155_745-4153dup (n.745-4155_745-4153dup)
c.152-4155_152-4153dup
n.371_373dup
c.7094_7096dup (p.Gln2365_Leu2366insGln)
c.6899_6901dup (p.Gln2300_Leu2301insGln)
c.7067_7069dup (p.Gln2356_Leu2357insGln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279352_89279354delCA2739267048ANKRD11c.7196_7198del (p.Gln2399del)
c.*6999_*7001del (n.*6999_*7001del)
c.745-4155_745-4153del (n.745-4155_745-4153del)
c.152-4155_152-4153del
n.371_373del
c.7094_7096del (p.Gln2365del)
c.6899_6901del (p.Gln2300del)
c.7067_7069del (p.Gln2356del)
 ClinVar
16g.89279345C>ACA397148980ANKRD11c.7197G>T (p.Gln2399His)
c.*7000G>T (n.*7000G>T)
c.745-4154G>T (n.745-4154G>T)
c.152-4154G>T
n.372G>T
c.7095G>T (p.Gln2365His)
c.6900G>T (p.Gln2300His)
c.7068G>T (p.Gln2356His)
 gnomAD v4
16g.89279345C=CA2241586651ANKRD11c.7197G= (p.Gln2399=)
c.*7000G= (n.*7000G=)
c.745-4154G= (n.745-4154G=)
c.152-4154G=
n.372G=
c.7095G= (p.Gln2365=)
c.6900G= (p.Gln2300=)
c.7068G= (p.Gln2356=)
16g.89279345C>GCA397148982ANKRD11c.7197G>C (p.Gln2399His)
c.*7000G>C (n.*7000G>C)
c.745-4154G>C (n.745-4154G>C)
c.152-4154G>C
n.372G>C
c.7095G>C (p.Gln2365His)
c.6900G>C (p.Gln2300His)
c.7068G>C (p.Gln2356His)
16g.89279345C>TCA497372508ANKRD11c.7197G>A (p.Gln2399=)
c.*7000G>A (n.*7000G>A)
c.745-4154G>A (n.745-4154G>A)
c.152-4154G>A
n.372G>A
c.7095G>A (p.Gln2365=)
c.6900G>A (p.Gln2300=)
c.7068G>A (p.Gln2356=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279346T>ACA397148984ANKRD11c.7196A>T (p.Gln2399Leu)
c.*6999A>T (n.*6999A>T)
c.745-4155A>T (n.745-4155A>T)
c.152-4155A>T
n.371A>T
c.7094A>T (p.Gln2365Leu)
c.6899A>T (p.Gln2300Leu)
c.7067A>T (p.Gln2356Leu)
16g.89279346T>CCA397148985ANKRD11c.7196A>G (p.Gln2399Arg)
c.*6999A>G (n.*6999A>G)
c.745-4155A>G (n.745-4155A>G)
c.152-4155A>G
n.371A>G
c.7094A>G (p.Gln2365Arg)
c.6899A>G (p.Gln2300Arg)
c.7067A>G (p.Gln2356Arg)
16g.89279346T>GCA397148987ANKRD11c.7196A>C (p.Gln2399Pro)
c.*6999A>C (n.*6999A>C)
c.745-4155A>C (n.745-4155A>C)
c.152-4155A>C
n.371A>C
c.7094A>C (p.Gln2365Pro)
c.6899A>C (p.Gln2300Pro)
c.7067A>C (p.Gln2356Pro)
 gnomAD v4
16g.89279347G>ACA397148989ANKRD11c.7195C>T (p.Gln2399Ter)
c.*6998C>T (n.*6998C>T)
c.745-4156C>T (n.745-4156C>T)
c.152-4156C>T
n.370C>T
c.7093C>T (p.Gln2365Ter)
c.6898C>T (p.Gln2300Ter)
c.7066C>T (p.Gln2356Ter)
16g.89279347G>CCA397148991ANKRD11c.7195C>G (p.Gln2399Glu)
c.*6998C>G (n.*6998C>G)
c.745-4156C>G (n.745-4156C>G)
c.152-4156C>G
n.370C>G
c.7093C>G (p.Gln2365Glu)
c.6898C>G (p.Gln2300Glu)
c.7066C>G (p.Gln2356Glu)
16g.89279347G>TCA397148993ANKRD11c.7195C>A (p.Gln2399Lys)
c.*6998C>A (n.*6998C>A)
c.745-4156C>A (n.745-4156C>A)
c.152-4156C>A
n.370C>A
c.7093C>A (p.Gln2365Lys)
c.6898C>A (p.Gln2300Lys)
c.7066C>A (p.Gln2356Lys)
16g.89279348C>ACA397148995ANKRD11c.7194G>T (p.Gln2398His)
c.*6997G>T (n.*6997G>T)
c.745-4157G>T (n.745-4157G>T)
c.152-4157G>T
n.369G>T
c.7092G>T (p.Gln2364His)
c.6897G>T (p.Gln2299His)
c.7065G>T (p.Gln2355His)
 gnomAD v4
16g.89279348C=CA2241586652ANKRD11c.7194G= (p.Gln2398=)
c.*6997G= (n.*6997G=)
c.745-4157G= (n.745-4157G=)
c.152-4157G=
n.369G=
c.7092G= (p.Gln2364=)
c.6897G= (p.Gln2299=)
c.7065G= (p.Gln2355=)
16g.89279348C>GCA397148997ANKRD11c.7194G>C (p.Gln2398His)
c.*6997G>C (n.*6997G>C)
c.745-4157G>C (n.745-4157G>C)
c.152-4157G>C
n.369G>C
c.7092G>C (p.Gln2364His)
c.6897G>C (p.Gln2299His)
c.7065G>C (p.Gln2355His)
16g.89279348C>TCA497372511ANKRD11c.7194G>A (p.Gln2398=)
c.*6997G>A (n.*6997G>A)
c.745-4157G>A (n.745-4157G>A)
c.152-4157G>A
n.369G>A
c.7092G>A (p.Gln2364=)
c.6897G>A (p.Gln2299=)
c.7065G>A (p.Gln2355=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279349T>ACA397149001ANKRD11c.7193A>T (p.Gln2398Leu)
c.*6996A>T (n.*6996A>T)
c.745-4158A>T (n.745-4158A>T)
c.152-4158A>T
n.368A>T
c.7091A>T (p.Gln2364Leu)
c.6896A>T (p.Gln2299Leu)
c.7064A>T (p.Gln2355Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279349T>CCA397149002ANKRD11c.7193A>G (p.Gln2398Arg)
c.*6996A>G (n.*6996A>G)
c.745-4158A>G (n.745-4158A>G)
c.152-4158A>G
n.368A>G
c.7091A>G (p.Gln2364Arg)
c.6896A>G (p.Gln2299Arg)
c.7064A>G (p.Gln2355Arg)
16g.89279349T>GCA397148999ANKRD11c.7193A>C (p.Gln2398Pro)
c.*6996A>C (n.*6996A>C)
c.745-4158A>C (n.745-4158A>C)
c.152-4158A>C
n.368A>C
c.7091A>C (p.Gln2364Pro)
c.6896A>C (p.Gln2299Pro)
c.7064A>C (p.Gln2355Pro)
16g.89279349T=CA2241586653ANKRD11c.7193A= (p.Gln2398=)
c.*6996A= (n.*6996A=)
c.745-4158A= (n.745-4158A=)
c.152-4158A=
n.368A=
c.7091A= (p.Gln2364=)
c.6896A= (p.Gln2299=)
c.7064A= (p.Gln2355=)
16g.89279350G>ACA397149004ANKRD11c.7192C>T (p.Gln2398Ter)
c.*6995C>T (n.*6995C>T)
c.745-4159C>T (n.745-4159C>T)
c.152-4159C>T
n.367C>T
c.7090C>T (p.Gln2364Ter)
c.6895C>T (p.Gln2299Ter)
c.7063C>T (p.Gln2355Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279350G>CCA397149005ANKRD11c.7192C>G (p.Gln2398Glu)
c.*6995C>G (n.*6995C>G)
c.745-4159C>G (n.745-4159C>G)
c.152-4159C>G
n.367C>G
c.7090C>G (p.Gln2364Glu)
c.6895C>G (p.Gln2299Glu)
c.7063C>G (p.Gln2355Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89279350G=CA2241586654ANKRD11c.7192C= (p.Gln2398=)
c.*6995C= (n.*6995C=)
c.745-4159C= (n.745-4159C=)
c.152-4159C=
n.367C=
c.7090C= (p.Gln2364=)
c.6895C= (p.Gln2299=)
c.7063C= (p.Gln2355=)
16g.89279350G>TCA397149006ANKRD11c.7192C>A (p.Gln2398Lys)
c.*6995C>A (n.*6995C>A)
c.745-4159C>A (n.745-4159C>A)
c.152-4159C>A
n.367C>A
c.7090C>A (p.Gln2364Lys)
c.6895C>A (p.Gln2299Lys)
c.7063C>A (p.Gln2355Lys)
 gnomAD v4
16g.89279355_89279360dupCA2634940963ANKRD11c.7187_7192dup (p.Gln2397_Gln2398insLeuGln)
c.*6990_*6995dup (n.*6990_*6995dup)
c.745-4164_745-4159dup (n.745-4164_745-4159dup)
c.152-4164_152-4159dup
n.362_367dup
c.7085_7090dup (p.Gln2363_Gln2364insLeuGln)
c.6890_6895dup (p.Gln2298_Gln2299insLeuGln)
c.7058_7063dup (p.Gln2354_Gln2355insLeuGln)
 gnomAD v4
16g.89279351C>ACA8241283ANKRD11c.7191G>T (p.Gln2397His)
c.*6994G>T (n.*6994G>T)
c.745-4160G>T (n.745-4160G>T)
c.152-4160G>T
n.366G>T
c.7089G>T (p.Gln2363His)
c.6894G>T (p.Gln2298His)
c.7062G>T (p.Gln2354His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279351C=CA2241586655ANKRD11c.7191G= (p.Gln2397=)
c.*6994G= (n.*6994G=)
c.745-4160G= (n.745-4160G=)
c.152-4160G=
n.366G=
c.7089G= (p.Gln2363=)
c.6894G= (p.Gln2298=)
c.7062G= (p.Gln2354=)
16g.89279351C>GCA8241284ANKRD11c.7191G>C (p.Gln2397His)
c.*6994G>C (n.*6994G>C)
c.745-4160G>C (n.745-4160G>C)
c.152-4160G>C
n.366G>C
c.7089G>C (p.Gln2363His)
c.6894G>C (p.Gln2298His)
c.7062G>C (p.Gln2354His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279351C>TCA497372518ANKRD11c.7191G>A (p.Gln2397=)
c.*6994G>A (n.*6994G>A)
c.745-4160G>A (n.745-4160G>A)
c.152-4160G>A
n.366G>A
c.7089G>A (p.Gln2363=)
c.6894G>A (p.Gln2298=)
c.7062G>A (p.Gln2354=)
 ClinVar dbSNP gnomAD v4
16g.89279352T>ACA8241285ANKRD11c.7190A>T (p.Gln2397Leu)
c.*6993A>T (n.*6993A>T)
c.745-4161A>T (n.745-4161A>T)
c.152-4161A>T
n.365A>T
c.7088A>T (p.Gln2363Leu)
c.6893A>T (p.Gln2298Leu)
c.7061A>T (p.Gln2354Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89279352T>CCA397149011ANKRD11c.7190A>G (p.Gln2397Arg)
c.*6993A>G (n.*6993A>G)
c.745-4161A>G (n.745-4161A>G)
c.152-4161A>G
n.365A>G
c.7088A>G (p.Gln2363Arg)
c.6893A>G (p.Gln2298Arg)
c.7061A>G (p.Gln2354Arg)
16g.89279352T>GCA397149013ANKRD11c.7190A>C (p.Gln2397Pro)
c.*6993A>C (n.*6993A>C)
c.745-4161A>C (n.745-4161A>C)
c.152-4161A>C
n.365A>C
c.7088A>C (p.Gln2363Pro)
c.6893A>C (p.Gln2298Pro)
c.7061A>C (p.Gln2354Pro)
16g.89279352T=CA2241586656ANKRD11c.7190A= (p.Gln2397=)
c.*6993A= (n.*6993A=)
c.745-4161A= (n.745-4161A=)
c.152-4161A=
n.365A=
c.7088A= (p.Gln2363=)
c.6893A= (p.Gln2298=)
c.7061A= (p.Gln2354=)
16g.89279353G>ACA397149015ANKRD11c.7189C>T (p.Gln2397Ter)
c.*6992C>T (n.*6992C>T)
c.745-4162C>T (n.745-4162C>T)
c.152-4162C>T
n.364C>T
c.7087C>T (p.Gln2363Ter)
c.6892C>T (p.Gln2298Ter)
c.7060C>T (p.Gln2354Ter)
 ClinVar dbSNP
16g.89279353G>CCA397149017ANKRD11c.7189C>G (p.Gln2397Glu)
c.*6992C>G (n.*6992C>G)
c.745-4162C>G (n.745-4162C>G)
c.152-4162C>G
n.364C>G
c.7087C>G (p.Gln2363Glu)
c.6892C>G (p.Gln2298Glu)
c.7060C>G (p.Gln2354Glu)
16g.89279353G=CA2241586657ANKRD11c.7189C= (p.Gln2397=)
c.*6992C= (n.*6992C=)
c.745-4162C= (n.745-4162C=)
c.152-4162C=
n.364C=
c.7087C= (p.Gln2363=)
c.6892C= (p.Gln2298=)
c.7060C= (p.Gln2354=)
16g.89279353G>TCA397149018ANKRD11c.7189C>A (p.Gln2397Lys)
c.*6992C>A (n.*6992C>A)
c.745-4162C>A (n.745-4162C>A)
c.152-4162C>A
n.364C>A
c.7087C>A (p.Gln2363Lys)
c.6892C>A (p.Gln2298Lys)
c.7060C>A (p.Gln2354Lys)
16g.89279355_89279357dupCA2576097087ANKRD11c.7187_7189dup (p.Leu2396_Gln2397insLeu)
c.*6990_*6992dup (n.*6990_*6992dup)
c.745-4164_745-4162dup (n.745-4164_745-4162dup)
c.152-4164_152-4162dup
n.362_364dup
c.7085_7087dup (p.Leu2362_Gln2363insLeu)
c.6890_6892dup (p.Leu2297_Gln2298insLeu)
c.7058_7060dup (p.Leu2353_Gln2354insLeu)
16g.89279353_89279354insGCCGCCACCAAACACA2808088000ANKRD11c.7188_7189insTGTTTGGTGGCGGC (p.Gln2397CysfsTer9)
c.*6991_*6992insTGTTTGGTGGCGGC (n.*6991_*6992insTGTTTGGTGGCGGC)
c.745-4163_745-4162insTGTTTGGTGGCGGC (n.745-4163_745-4162insTGTTTGGTGGCGGC)
c.152-4163_152-4162insTGTTTGGTGGCGGC
n.363_364insTGTTTGGTGGCGGC
c.7086_7087insTGTTTGGTGGCGGC (p.Gln2363CysfsTer9)
c.6891_6892insTGTTTGGTGGCGGC (p.Gln2298CysfsTer9)
c.7059_7060insTGTTTGGTGGCGGC (p.Gln2354CysfsTer9)
16g.89279354C>ACA497372528ANKRD11c.7188G>T (p.Leu2396=)
c.*6991G>T (n.*6991G>T)
c.745-4163G>T (n.745-4163G>T)
c.152-4163G>T
n.363G>T
c.7086G>T (p.Leu2362=)
c.6891G>T (p.Leu2297=)
c.7059G>T (p.Leu2353=)
16g.89279354C=CA2241586658ANKRD11c.7188G= (p.Leu2396=)
c.*6991G= (n.*6991G=)
c.745-4163G= (n.745-4163G=)
c.152-4163G=
n.363G=
c.7086G= (p.Leu2362=)
c.6891G= (p.Leu2297=)
c.7059G= (p.Leu2353=)
16g.89279354C>GCA497372527ANKRD11c.7188G>C (p.Leu2396=)
c.*6991G>C (n.*6991G>C)
c.745-4163G>C (n.745-4163G>C)
c.152-4163G>C
n.363G>C
c.7086G>C (p.Leu2362=)
c.6891G>C (p.Leu2297=)
c.7059G>C (p.Leu2353=)
16g.89279354C>TCA497372525ANKRD11c.7188G>A (p.Leu2396=)
c.*6991G>A (n.*6991G>A)
c.745-4163G>A (n.745-4163G>A)
c.152-4163G>A
n.363G>A
c.7086G>A (p.Leu2362=)
c.6891G>A (p.Leu2297=)
c.7059G>A (p.Leu2353=)
 dbSNP gnomAD v4
16g.89279355A=CA2241586659ANKRD11c.7187T= (p.Leu2396=)
c.*6990T= (n.*6990T=)
c.745-4164T= (n.745-4164T=)
c.152-4164T=
n.362T=
c.7085T= (p.Leu2362=)
c.6890T= (p.Leu2297=)
c.7058T= (p.Leu2353=)
16g.89279355A>CCA397149021ANKRD11c.7187T>G (p.Leu2396Arg)
c.*6990T>G (n.*6990T>G)
c.745-4164T>G (n.745-4164T>G)
c.152-4164T>G
n.362T>G
c.7085T>G (p.Leu2362Arg)
c.6890T>G (p.Leu2297Arg)
c.7058T>G (p.Leu2353Arg)
16g.89279355A>GCA397149023ANKRD11c.7187T>C (p.Leu2396Pro)
c.*6990T>C (n.*6990T>C)
c.745-4164T>C (n.745-4164T>C)
c.152-4164T>C
n.362T>C
c.7085T>C (p.Leu2362Pro)
c.6890T>C (p.Leu2297Pro)
c.7058T>C (p.Leu2353Pro)
16g.89279355A>TCA397149020ANKRD11c.7187T>A (p.Leu2396Gln)
c.*6990T>A (n.*6990T>A)
c.745-4164T>A (n.745-4164T>A)
c.152-4164T>A
n.362T>A
c.7085T>A (p.Leu2362Gln)
c.6890T>A (p.Leu2297Gln)
c.7058T>A (p.Leu2353Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.89279356G>ACA8241286ANKRD11c.7186C>T (p.Leu2396=)
c.*6989C>T (n.*6989C>T)
c.745-4165C>T (n.745-4165C>T)
c.152-4165C>T
n.361C>T
c.7084C>T (p.Leu2362=)
c.6889C>T (p.Leu2297=)
c.7057C>T (p.Leu2353=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279356G>CCA397149026ANKRD11c.7186C>G (p.Leu2396Val)
c.*6989C>G (n.*6989C>G)
c.745-4165C>G (n.745-4165C>G)
c.152-4165C>G
n.361C>G
c.7084C>G (p.Leu2362Val)
c.6889C>G (p.Leu2297Val)
c.7057C>G (p.Leu2353Val)
16g.89279356G=CA2241586660ANKRD11c.7186C= (p.Leu2396=)
c.*6989C= (n.*6989C=)
c.745-4165C= (n.745-4165C=)
c.152-4165C=
n.361C=
c.7084C= (p.Leu2362=)
c.6889C= (p.Leu2297=)
c.7057C= (p.Leu2353=)
16g.89279356G>TCA397149028ANKRD11c.7186C>A (p.Leu2396Met)
c.*6989C>A (n.*6989C>A)
c.745-4165C>A (n.745-4165C>A)
c.152-4165C>A
n.361C>A
c.7084C>A (p.Leu2362Met)
c.6889C>A (p.Leu2297Met)
c.7057C>A (p.Leu2353Met)
16g.89279360_89279362dupCA2634940964ANKRD11c.7184_7186dup (p.Gln2395_Leu2396insGln)
c.*6987_*6989dup (n.*6987_*6989dup)
c.745-4167_745-4165dup (n.745-4167_745-4165dup)
c.152-4167_152-4165dup
n.359_361dup
c.7082_7084dup (p.Gln2361_Leu2362insGln)
c.6887_6889dup (p.Gln2296_Leu2297insGln)
c.7055_7057dup (p.Gln2352_Leu2353insGln)
 gnomAD v4
16g.89279357C>ACA397149030ANKRD11c.7185G>T (p.Gln2395His)
c.*6988G>T (n.*6988G>T)
c.745-4166G>T (n.745-4166G>T)
c.152-4166G>T
n.360G>T
c.7083G>T (p.Gln2361His)
c.6888G>T (p.Gln2296His)
c.7056G>T (p.Gln2352His)
16g.89279357C=CA2241586661ANKRD11c.7185G= (p.Gln2395=)
c.*6988G= (n.*6988G=)
c.745-4166G= (n.745-4166G=)
c.152-4166G=
n.360G=
c.7083G= (p.Gln2361=)
c.6888G= (p.Gln2296=)
c.7056G= (p.Gln2352=)
16g.89279357C>GCA397149031ANKRD11c.7185G>C (p.Gln2395His)
c.*6988G>C (n.*6988G>C)
c.745-4166G>C (n.745-4166G>C)
c.152-4166G>C
n.360G>C
c.7083G>C (p.Gln2361His)
c.6888G>C (p.Gln2296His)
c.7056G>C (p.Gln2352His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89279357C>TCA497372529ANKRD11c.7185G>A (p.Gln2395=)
c.*6988G>A (n.*6988G>A)
c.745-4166G>A (n.745-4166G>A)
c.152-4166G>A
n.360G>A
c.7083G>A (p.Gln2361=)
c.6888G>A (p.Gln2296=)
c.7056G>A (p.Gln2352=)
 gnomAD v4
16g.89279358T>ACA397149036ANKRD11c.7184A>T (p.Gln2395Leu)
c.*6987A>T (n.*6987A>T)
c.745-4167A>T (n.745-4167A>T)
c.152-4167A>T
n.359A>T
c.7082A>T (p.Gln2361Leu)
c.6887A>T (p.Gln2296Leu)
c.7055A>T (p.Gln2352Leu)
16g.89279358T>CCA397149033ANKRD11c.7184A>G (p.Gln2395Arg)
c.*6987A>G (n.*6987A>G)
c.745-4167A>G (n.745-4167A>G)
c.152-4167A>G
n.359A>G
c.7082A>G (p.Gln2361Arg)
c.6887A>G (p.Gln2296Arg)
c.7055A>G (p.Gln2352Arg)
 gnomAD v4
16g.89279358T>GCA8241287ANKRD11c.7184A>C (p.Gln2395Pro)
c.*6987A>C (n.*6987A>C)
c.745-4167A>C (n.745-4167A>C)
c.152-4167A>C
n.359A>C
c.7082A>C (p.Gln2361Pro)
c.6887A>C (p.Gln2296Pro)
c.7055A>C (p.Gln2352Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279358T=CA2241586662ANKRD11c.7184A= (p.Gln2395=)
c.*6987A= (n.*6987A=)
c.745-4167A= (n.745-4167A=)
c.152-4167A=
n.359A=
c.7082A= (p.Gln2361=)
c.6887A= (p.Gln2296=)
c.7055A= (p.Gln2352=)
16g.89279359G>ACA397149038ANKRD11c.7183C>T (p.Gln2395Ter)
c.*6986C>T (n.*6986C>T)
c.745-4168C>T (n.745-4168C>T)
c.152-4168C>T
n.358C>T
c.7081C>T (p.Gln2361Ter)
c.6886C>T (p.Gln2296Ter)
c.7054C>T (p.Gln2352Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279359G>CCA397149039ANKRD11c.7183C>G (p.Gln2395Glu)
c.*6986C>G (n.*6986C>G)
c.745-4168C>G (n.745-4168C>G)
c.152-4168C>G
n.358C>G
c.7081C>G (p.Gln2361Glu)
c.6886C>G (p.Gln2296Glu)
c.7054C>G (p.Gln2352Glu)
16g.89279359G=CA2241586663ANKRD11c.7183C= (p.Gln2395=)
c.*6986C= (n.*6986C=)
c.745-4168C= (n.745-4168C=)
c.152-4168C=
n.358C=
c.7081C= (p.Gln2361=)
c.6886C= (p.Gln2296=)
c.7054C= (p.Gln2352=)
16g.89279359G>TCA397149041ANKRD11c.7183C>A (p.Gln2395Lys)
c.*6986C>A (n.*6986C>A)
c.745-4168C>A (n.745-4168C>A)
c.152-4168C>A
n.358C>A
c.7081C>A (p.Gln2361Lys)
c.6886C>A (p.Gln2296Lys)
c.7054C>A (p.Gln2352Lys)
16g.89279360C>ACA397149042ANKRD11c.7182G>T (p.Gln2394His)
c.*6985G>T (n.*6985G>T)
c.745-4169G>T (n.745-4169G>T)
c.152-4169G>T
n.357G>T
c.7080G>T (p.Gln2360His)
c.6885G>T (p.Gln2295His)
c.7053G>T (p.Gln2351His)
16g.89279360C=CA2241586664ANKRD11c.7182G= (p.Gln2394=)
c.*6985G= (n.*6985G=)
c.745-4169G= (n.745-4169G=)
c.152-4169G=
n.357G=
c.7080G= (p.Gln2360=)
c.6885G= (p.Gln2295=)
c.7053G= (p.Gln2351=)
16g.89279360C>GCA397149044ANKRD11c.7182G>C (p.Gln2394His)
c.*6985G>C (n.*6985G>C)
c.745-4169G>C (n.745-4169G>C)
c.152-4169G>C
n.357G>C
c.7080G>C (p.Gln2360His)
c.6885G>C (p.Gln2295His)
c.7053G>C (p.Gln2351His)
16g.89279360C>TCA8241288ANKRD11c.7182G>A (p.Gln2394=)
c.*6985G>A (n.*6985G>A)
c.745-4169G>A (n.745-4169G>A)
c.152-4169G>A
n.357G>A
c.7080G>A (p.Gln2360=)
c.6885G>A (p.Gln2295=)
c.7053G>A (p.Gln2351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279361T>ACA397149050ANKRD11c.7181A>T (p.Gln2394Leu)
c.*6984A>T (n.*6984A>T)
c.745-4170A>T (n.745-4170A>T)
c.152-4170A>T
n.356A>T
c.7079A>T (p.Gln2360Leu)
c.6884A>T (p.Gln2295Leu)
c.7052A>T (p.Gln2351Leu)
16g.89279361T>CCA397149049ANKRD11c.7181A>G (p.Gln2394Arg)
c.*6984A>G (n.*6984A>G)
c.745-4170A>G (n.745-4170A>G)
c.152-4170A>G
n.356A>G
c.7079A>G (p.Gln2360Arg)
c.6884A>G (p.Gln2295Arg)
c.7052A>G (p.Gln2351Arg)
 gnomAD v4
16g.89279361T>GCA397149047ANKRD11c.7181A>C (p.Gln2394Pro)
c.*6984A>C (n.*6984A>C)
c.745-4170A>C (n.745-4170A>C)
c.152-4170A>C
n.356A>C
c.7079A>C (p.Gln2360Pro)
c.6884A>C (p.Gln2295Pro)
c.7052A>C (p.Gln2351Pro)
16g.89279362G>ACA279648ANKRD11c.7180C>T (p.Gln2394Ter)
c.*6983C>T (n.*6983C>T)
c.745-4171C>T (n.745-4171C>T)
c.152-4171C>T
n.355C>T
c.7078C>T (p.Gln2360Ter)
c.6883C>T (p.Gln2295Ter)
c.7051C>T (p.Gln2351Ter)
 ClinVar dbSNP
16g.89279362G>CCA397149051ANKRD11c.7180C>G (p.Gln2394Glu)
c.*6983C>G (n.*6983C>G)
c.745-4171C>G (n.745-4171C>G)
c.152-4171C>G
n.355C>G
c.7078C>G (p.Gln2360Glu)
c.6883C>G (p.Gln2295Glu)
c.7051C>G (p.Gln2351Glu)
16g.89279362G=CA2241586665ANKRD11c.7180C= (p.Gln2394=)
c.*6983C= (n.*6983C=)
c.745-4171C= (n.745-4171C=)
c.152-4171C=
n.355C=
c.7078C= (p.Gln2360=)
c.6883C= (p.Gln2295=)
c.7051C= (p.Gln2351=)
16g.89279362G>TCA397149053ANKRD11c.7180C>A (p.Gln2394Lys)
c.*6983C>A (n.*6983C>A)
c.745-4171C>A (n.745-4171C>A)
c.152-4171C>A
n.355C>A
c.7078C>A (p.Gln2360Lys)
c.6883C>A (p.Gln2295Lys)
c.7051C>A (p.Gln2351Lys)
16g.89279363G>ACA497372538ANKRD11c.7179C>T (p.Thr2393=)
c.*6982C>T (n.*6982C>T)
c.745-4172C>T (n.745-4172C>T)
c.152-4172C>T
n.354C>T
c.7077C>T (p.Thr2359=)
c.6882C>T (p.Thr2294=)
c.7050C>T (p.Thr2350=)
16g.89279363G>CCA497372539ANKRD11c.7179C>G (p.Thr2393=)
c.*6982C>G (n.*6982C>G)
c.745-4172C>G (n.745-4172C>G)
c.152-4172C>G
n.354C>G
c.7077C>G (p.Thr2359=)
c.6882C>G (p.Thr2294=)
c.7050C>G (p.Thr2350=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279363G=CA2241586666ANKRD11c.7179C= (p.Thr2393=)
c.*6982C= (n.*6982C=)
c.745-4172C= (n.745-4172C=)
c.152-4172C=
n.354C=
c.7077C= (p.Thr2359=)
c.6882C= (p.Thr2294=)
c.7050C= (p.Thr2350=)
16g.89279363G>TCA497372540ANKRD11c.7179C>A (p.Thr2393=)
c.*6982C>A (n.*6982C>A)
c.745-4172C>A (n.745-4172C>A)
c.152-4172C>A
n.354C>A
c.7077C>A (p.Thr2359=)
c.6882C>A (p.Thr2294=)
c.7050C>A (p.Thr2350=)
 gnomAD v4
16g.89279364G>ACA397149054ANKRD11c.7178C>T (p.Thr2393Ile)
c.*6981C>T (n.*6981C>T)
c.745-4173C>T (n.745-4173C>T)
c.152-4173C>T
n.353C>T
c.7076C>T (p.Thr2359Ile)
c.6881C>T (p.Thr2294Ile)
c.7049C>T (p.Thr2350Ile)
 gnomAD v4
16g.89279364G>CCA397149058ANKRD11c.7178C>G (p.Thr2393Ser)
c.*6981C>G (n.*6981C>G)
c.745-4173C>G (n.745-4173C>G)
c.152-4173C>G
n.353C>G
c.7076C>G (p.Thr2359Ser)
c.6881C>G (p.Thr2294Ser)
c.7049C>G (p.Thr2350Ser)
 dbSNP gnomAD v4
16g.89279364G=CA2241586667ANKRD11c.7178C= (p.Thr2393=)
c.*6981C= (n.*6981C=)
c.745-4173C= (n.745-4173C=)
c.152-4173C=
n.353C=
c.7076C= (p.Thr2359=)
c.6881C= (p.Thr2294=)
c.7049C= (p.Thr2350=)
16g.89279364G>TCA397149056ANKRD11c.7178C>A (p.Thr2393Asn)
c.*6981C>A (n.*6981C>A)
c.745-4173C>A (n.745-4173C>A)
c.152-4173C>A
n.353C>A
c.7076C>A (p.Thr2359Asn)
c.6881C>A (p.Thr2294Asn)
c.7049C>A (p.Thr2350Asn)
 dbSNP gnomAD v4
16g.89279365T>ACA397149059ANKRD11c.7177A>T (p.Thr2393Ser)
c.*6980A>T (n.*6980A>T)
c.745-4174A>T (n.745-4174A>T)
c.152-4174A>T
n.352A>T
c.7075A>T (p.Thr2359Ser)
c.6880A>T (p.Thr2294Ser)
c.7048A>T (p.Thr2350Ser)
16g.89279365T>CCA397149060ANKRD11c.7177A>G (p.Thr2393Ala)
c.*6980A>G (n.*6980A>G)
c.745-4174A>G (n.745-4174A>G)
c.152-4174A>G
n.352A>G
c.7075A>G (p.Thr2359Ala)
c.6880A>G (p.Thr2294Ala)
c.7048A>G (p.Thr2350Ala)
16g.89279365T>GCA397149062ANKRD11c.7177A>C (p.Thr2393Pro)
c.*6980A>C (n.*6980A>C)
c.745-4174A>C (n.745-4174A>C)
c.152-4174A>C
n.352A>C
c.7075A>C (p.Thr2359Pro)
c.6880A>C (p.Thr2294Pro)
c.7048A>C (p.Thr2350Pro)
16g.89279366G>ACA497372543ANKRD11c.7176C>T (p.Ser2392=)
c.*6979C>T (n.*6979C>T)
c.745-4175C>T (n.745-4175C>T)
c.152-4175C>T
n.351C>T
c.7074C>T (p.Ser2358=)
c.6879C>T (p.Ser2293=)
c.7047C>T (p.Ser2349=)
 gnomAD v4
16g.89279366G>CCA497372546ANKRD11c.7176C>G (p.Ser2392=)
c.*6979C>G (n.*6979C>G)
c.745-4175C>G (n.745-4175C>G)
c.152-4175C>G
n.351C>G
c.7074C>G (p.Ser2358=)
c.6879C>G (p.Ser2293=)
c.7047C>G (p.Ser2349=)
16g.89279366G>TCA497372548ANKRD11c.7176C>A (p.Ser2392=)
c.*6979C>A (n.*6979C>A)
c.745-4175C>A (n.745-4175C>A)
c.152-4175C>A
n.351C>A
c.7074C>A (p.Ser2358=)
c.6879C>A (p.Ser2293=)
c.7047C>A (p.Ser2349=)
16g.89279367G>ACA397149064ANKRD11c.7175C>T (p.Ser2392Phe)
c.*6978C>T (n.*6978C>T)
c.745-4176C>T (n.745-4176C>T)
c.152-4176C>T
n.350C>T
c.7073C>T (p.Ser2358Phe)
c.6878C>T (p.Ser2293Phe)
c.7046C>T (p.Ser2349Phe)
16g.89279367G>CCA397149066ANKRD11c.7175C>G (p.Ser2392Cys)
c.*6978C>G (n.*6978C>G)
c.745-4176C>G (n.745-4176C>G)
c.152-4176C>G
n.350C>G
c.7073C>G (p.Ser2358Cys)
c.6878C>G (p.Ser2293Cys)
c.7046C>G (p.Ser2349Cys)
16g.89279367G>TCA397149067ANKRD11c.7175C>A (p.Ser2392Tyr)
c.*6978C>A (n.*6978C>A)
c.745-4176C>A (n.745-4176C>A)
c.152-4176C>A
n.350C>A
c.7073C>A (p.Ser2358Tyr)
c.6878C>A (p.Ser2293Tyr)
c.7046C>A (p.Ser2349Tyr)
16g.89279368A>CCA397149069ANKRD11c.7174T>G (p.Ser2392Ala)
c.*6977T>G (n.*6977T>G)
c.745-4177T>G (n.745-4177T>G)
c.152-4177T>G
n.349T>G
c.7072T>G (p.Ser2358Ala)
c.6877T>G (p.Ser2293Ala)
c.7045T>G (p.Ser2349Ala)
16g.89279368A>GCA397149070ANKRD11c.7174T>C (p.Ser2392Pro)
c.*6977T>C (n.*6977T>C)
c.745-4177T>C (n.745-4177T>C)
c.152-4177T>C
n.349T>C
c.7072T>C (p.Ser2358Pro)
c.6877T>C (p.Ser2293Pro)
c.7045T>C (p.Ser2349Pro)
 gnomAD v4
16g.89279368A>TCA397149072ANKRD11c.7174T>A (p.Ser2392Thr)
c.*6977T>A (n.*6977T>A)
c.745-4177T>A (n.745-4177T>A)
c.152-4177T>A
n.349T>A
c.7072T>A (p.Ser2358Thr)
c.6877T>A (p.Ser2293Thr)
c.7045T>A (p.Ser2349Thr)
16g.89279369G>ACA497372553ANKRD11c.7173C>T (p.Arg2391=)
c.*6976C>T (n.*6976C>T)
c.745-4178C>T (n.745-4178C>T)
c.152-4178C>T
n.348C>T
c.7071C>T (p.Arg2357=)
c.6876C>T (p.Arg2292=)
c.7044C>T (p.Arg2348=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279369G>CCA497372556ANKRD11c.7173C>G (p.Arg2391=)
c.*6976C>G (n.*6976C>G)
c.745-4178C>G (n.745-4178C>G)
c.152-4178C>G
n.348C>G
c.7071C>G (p.Arg2357=)
c.6876C>G (p.Arg2292=)
c.7044C>G (p.Arg2348=)
16g.89279369G=CA2241586668ANKRD11c.7173C= (p.Arg2391=)
c.*6976C= (n.*6976C=)
c.745-4178C= (n.745-4178C=)
c.152-4178C=
n.348C=
c.7071C= (p.Arg2357=)
c.6876C= (p.Arg2292=)
c.7044C= (p.Arg2348=)
16g.89279369G>TCA497372558ANKRD11c.7173C>A (p.Arg2391=)
c.*6976C>A (n.*6976C>A)
c.745-4178C>A (n.745-4178C>A)
c.152-4178C>A
n.348C>A
c.7071C>A (p.Arg2357=)
c.6876C>A (p.Arg2292=)
c.7044C>A (p.Arg2348=)
16g.89279370C>ACA397149074ANKRD11c.7172G>T (p.Arg2391Leu)
c.*6975G>T (n.*6975G>T)
c.745-4179G>T (n.745-4179G>T)
c.152-4179G>T
n.347G>T
c.7070G>T (p.Arg2357Leu)
c.6875G>T (p.Arg2292Leu)
c.7043G>T (p.Arg2348Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.89279370C=CA2241586669ANKRD11c.7172G= (p.Arg2391=)
c.*6975G= (n.*6975G=)
c.745-4179G= (n.745-4179G=)
c.152-4179G=
n.347G=
c.7070G= (p.Arg2357=)
c.6875G= (p.Arg2292=)
c.7043G= (p.Arg2348=)
16g.89279370C>GCA397149076ANKRD11c.7172G>C (p.Arg2391Pro)
c.*6975G>C (n.*6975G>C)
c.745-4179G>C (n.745-4179G>C)
c.152-4179G>C
n.347G>C
c.7070G>C (p.Arg2357Pro)
c.6875G>C (p.Arg2292Pro)
c.7043G>C (p.Arg2348Pro)
 gnomAD v4
16g.89279370C>TCA397149078ANKRD11c.7172G>A (p.Arg2391His)
c.*6975G>A (n.*6975G>A)
c.745-4179G>A (n.745-4179G>A)
c.152-4179G>A
n.347G>A
c.7070G>A (p.Arg2357His)
c.6875G>A (p.Arg2292His)
c.7043G>A (p.Arg2348His)
 dbSNP gnomAD v2 gnomAD v4
16g.89279371G>ACA397149083ANKRD11c.7171C>T (p.Arg2391Cys)
c.*6974C>T (n.*6974C>T)
c.745-4180C>T (n.745-4180C>T)
c.152-4180C>T
n.346C>T
c.7069C>T (p.Arg2357Cys)
c.6874C>T (p.Arg2292Cys)
c.7042C>T (p.Arg2348Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.89279371G>CCA397149079ANKRD11c.7171C>G (p.Arg2391Gly)
c.*6974C>G (n.*6974C>G)
c.745-4180C>G (n.745-4180C>G)
c.152-4180C>G
n.346C>G
c.7069C>G (p.Arg2357Gly)
c.6874C>G (p.Arg2292Gly)
c.7042C>G (p.Arg2348Gly)
16g.89279371G=CA2241586670ANKRD11c.7171C= (p.Arg2391=)
c.*6974C= (n.*6974C=)
c.745-4180C= (n.745-4180C=)
c.152-4180C=
n.346C=
c.7069C= (p.Arg2357=)
c.6874C= (p.Arg2292=)
c.7042C= (p.Arg2348=)
16g.89279371G>TCA397149081ANKRD11c.7171C>A (p.Arg2391Ser)
c.*6974C>A (n.*6974C>A)
c.745-4180C>A (n.745-4180C>A)
c.152-4180C>A
n.346C>A
c.7069C>A (p.Arg2357Ser)
c.6874C>A (p.Arg2292Ser)
c.7042C>A (p.Arg2348Ser)
16g.89279372C>ACA397149085ANKRD11c.7170G>T (p.Gln2390His)
c.*6973G>T (n.*6973G>T)
c.745-4181G>T (n.745-4181G>T)
c.152-4181G>T
n.345G>T
c.7068G>T (p.Gln2356His)
c.6873G>T (p.Gln2291His)
c.7041G>T (p.Gln2347His)
 gnomAD v4
16g.89279372C>GCA397149086ANKRD11c.7170G>C (p.Gln2390His)
c.*6973G>C (n.*6973G>C)
c.745-4181G>C (n.745-4181G>C)
c.152-4181G>C
n.345G>C
c.7068G>C (p.Gln2356His)
c.6873G>C (p.Gln2291His)
c.7041G>C (p.Gln2347His)
16g.89279372C>TCA497372562ANKRD11c.7170G>A (p.Gln2390=)
c.*6973G>A (n.*6973G>A)
c.745-4181G>A (n.745-4181G>A)
c.152-4181G>A
n.345G>A
c.7068G>A (p.Gln2356=)
c.6873G>A (p.Gln2291=)
c.7041G>A (p.Gln2347=)
16g.89279373T>ACA397149089ANKRD11c.7169A>T (p.Gln2390Leu)
c.*6972A>T (n.*6972A>T)
c.745-4182A>T (n.745-4182A>T)
c.152-4182A>T
n.344A>T
c.7067A>T (p.Gln2356Leu)
c.6872A>T (p.Gln2291Leu)
c.7040A>T (p.Gln2347Leu)
16g.89279373T>CCA397149091ANKRD11c.7169A>G (p.Gln2390Arg)
c.*6972A>G (n.*6972A>G)
c.745-4182A>G (n.745-4182A>G)
c.152-4182A>G
n.344A>G
c.7067A>G (p.Gln2356Arg)
c.6872A>G (p.Gln2291Arg)
c.7040A>G (p.Gln2347Arg)
 gnomAD v4
16g.89279373T>GCA397149092ANKRD11c.7169A>C (p.Gln2390Pro)
c.*6972A>C (n.*6972A>C)
c.745-4182A>C (n.745-4182A>C)
c.152-4182A>C
n.344A>C
c.7067A>C (p.Gln2356Pro)
c.6872A>C (p.Gln2291Pro)
c.7040A>C (p.Gln2347Pro)
16g.89279374G>ACA397149095ANKRD11c.7168C>T (p.Gln2390Ter)
c.*6971C>T (n.*6971C>T)
c.745-4183C>T (n.745-4183C>T)
c.152-4183C>T
n.343C>T
c.7066C>T (p.Gln2356Ter)
c.6871C>T (p.Gln2291Ter)
c.7039C>T (p.Gln2347Ter)
 ClinVar dbSNP gnomAD v4
16g.89279374G>CCA397149097ANKRD11c.7168C>G (p.Gln2390Glu)
c.*6971C>G (n.*6971C>G)
c.745-4183C>G (n.745-4183C>G)
c.152-4183C>G
n.343C>G
c.7066C>G (p.Gln2356Glu)
c.6871C>G (p.Gln2291Glu)
c.7039C>G (p.Gln2347Glu)
16g.89279374G>TCA397149098ANKRD11c.7168C>A (p.Gln2390Lys)
c.*6971C>A (n.*6971C>A)
c.745-4183C>A (n.745-4183C>A)
c.152-4183C>A
n.343C>A
c.7066C>A (p.Gln2356Lys)
c.6871C>A (p.Gln2291Lys)
c.7039C>A (p.Gln2347Lys)
16g.89279375A=CA2241586671ANKRD11c.7167T= (p.Phe2389=)
c.*6970T= (n.*6970T=)
c.745-4184T= (n.745-4184T=)
c.152-4184T=
n.342T=
c.7065T= (p.Phe2355=)
c.6870T= (p.Phe2290=)
c.7038T= (p.Phe2346=)
16g.89279375A>CCA286509471ANKRD11c.7167T>G (p.Phe2389Leu)
c.*6970T>G (n.*6970T>G)
c.745-4184T>G (n.745-4184T>G)
c.152-4184T>G
n.342T>G
c.7065T>G (p.Phe2355Leu)
c.6870T>G (p.Phe2290Leu)
c.7038T>G (p.Phe2346Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279375A>GCA497372566ANKRD11c.7167T>C (p.Phe2389=)
c.*6970T>C (n.*6970T>C)
c.745-4184T>C (n.745-4184T>C)
c.152-4184T>C
n.342T>C
c.7065T>C (p.Phe2355=)
c.6870T>C (p.Phe2290=)
c.7038T>C (p.Phe2346=)
 gnomAD v4
16g.89279375A>TCA397149101ANKRD11c.7167T>A (p.Phe2389Leu)
c.*6970T>A (n.*6970T>A)
c.745-4184T>A (n.745-4184T>A)
c.152-4184T>A
n.342T>A
c.7065T>A (p.Phe2355Leu)
c.6870T>A (p.Phe2290Leu)
c.7038T>A (p.Phe2346Leu)
16g.89279377delCA2576097088ANKRD11c.7167del (p.Gln2390SerfsTer11)
c.*6970del (n.*6970del)
c.745-4184del (n.745-4184del)
c.152-4184del
n.342del
c.7065del (p.Gln2356SerfsTer11)
c.6870del (p.Gln2291SerfsTer11)
c.7038del (p.Gln2347SerfsTer11)
16g.89279376A>CCA397149107ANKRD11c.7166T>G (p.Phe2389Cys)
c.*6969T>G (n.*6969T>G)
c.745-4185T>G (n.745-4185T>G)
c.152-4185T>G
n.341T>G
c.7064T>G (p.Phe2355Cys)
c.6869T>G (p.Phe2290Cys)
c.7037T>G (p.Phe2346Cys)
16g.89279376A>GCA397149105ANKRD11c.7166T>C (p.Phe2389Ser)
c.*6969T>C (n.*6969T>C)
c.745-4185T>C (n.745-4185T>C)
c.152-4185T>C
n.341T>C
c.7064T>C (p.Phe2355Ser)
c.6869T>C (p.Phe2290Ser)
c.7037T>C (p.Phe2346Ser)
16g.89279376A>TCA397149103ANKRD11c.7166T>A (p.Phe2389Tyr)
c.*6969T>A (n.*6969T>A)
c.745-4185T>A (n.745-4185T>A)
c.152-4185T>A
n.341T>A
c.7064T>A (p.Phe2355Tyr)
c.6869T>A (p.Phe2290Tyr)
c.7037T>A (p.Phe2346Tyr)
16g.89279377A>CCA397149109ANKRD11c.7165T>G (p.Phe2389Val)
c.*6968T>G (n.*6968T>G)
c.745-4186T>G (n.745-4186T>G)
c.152-4186T>G
n.340T>G
c.7063T>G (p.Phe2355Val)
c.6868T>G (p.Phe2290Val)
c.7036T>G (p.Phe2346Val)
 gnomAD v4
16g.89279377A>GCA397149111ANKRD11c.7165T>C (p.Phe2389Leu)
c.*6968T>C (n.*6968T>C)
c.745-4186T>C (n.745-4186T>C)
c.152-4186T>C
n.340T>C
c.7063T>C (p.Phe2355Leu)
c.6868T>C (p.Phe2290Leu)
c.7036T>C (p.Phe2346Leu)
 gnomAD v4
16g.89279377A>TCA397149113ANKRD11c.7165T>A (p.Phe2389Ile)
c.*6968T>A (n.*6968T>A)
c.745-4186T>A (n.745-4186T>A)
c.152-4186T>A
n.340T>A
c.7063T>A (p.Phe2355Ile)
c.6868T>A (p.Phe2290Ile)
c.7036T>A (p.Phe2346Ile)
16g.89279378G>ACA497372573ANKRD11c.7164C>T (p.Arg2388=)
c.*6967C>T (n.*6967C>T)
c.745-4187C>T (n.745-4187C>T)
c.152-4187C>T
n.339C>T
c.7062C>T (p.Arg2354=)
c.6867C>T (p.Arg2289=)
c.7035C>T (p.Arg2345=)
16g.89279378G>CCA497372574ANKRD11c.7164C>G (p.Arg2388=)
c.*6967C>G (n.*6967C>G)
c.745-4187C>G (n.745-4187C>G)
c.152-4187C>G
n.339C>G
c.7062C>G (p.Arg2354=)
c.6867C>G (p.Arg2289=)
c.7035C>G (p.Arg2345=)
 gnomAD v4
16g.89279378G>TCA497372575ANKRD11c.7164C>A (p.Arg2388=)
c.*6967C>A (n.*6967C>A)
c.745-4187C>A (n.745-4187C>A)
c.152-4187C>A
n.339C>A
c.7062C>A (p.Arg2354=)
c.6867C>A (p.Arg2289=)
c.7035C>A (p.Arg2345=)
16g.89279379C>ACA397149114ANKRD11c.7163G>T (p.Arg2388Leu)
c.*6966G>T (n.*6966G>T)
c.745-4188G>T (n.745-4188G>T)
c.152-4188G>T
n.338G>T
c.7061G>T (p.Arg2354Leu)
c.6866G>T (p.Arg2289Leu)
c.7034G>T (p.Arg2345Leu)
 dbSNP gnomAD v4
16g.89279379C=CA2241586672ANKRD11c.7163G= (p.Arg2388=)
c.*6966G= (n.*6966G=)
c.745-4188G= (n.745-4188G=)
c.152-4188G=
n.338G=
c.7061G= (p.Arg2354=)
c.6866G= (p.Arg2289=)
c.7034G= (p.Arg2345=)
16g.89279379C>GCA397149115ANKRD11c.7163G>C (p.Arg2388Pro)
c.*6966G>C (n.*6966G>C)
c.745-4188G>C (n.745-4188G>C)
c.152-4188G>C
n.338G>C
c.7061G>C (p.Arg2354Pro)
c.6866G>C (p.Arg2289Pro)
c.7034G>C (p.Arg2345Pro)
16g.89279379C>TCA397149117ANKRD11c.7163G>A (p.Arg2388His)
c.*6966G>A (n.*6966G>A)
c.745-4188G>A (n.745-4188G>A)
c.152-4188G>A
n.338G>A
c.7061G>A (p.Arg2354His)
c.6866G>A (p.Arg2289His)
c.7034G>A (p.Arg2345His)
 gnomAD v4 COSMIC
16g.89279380G>ACA397149119ANKRD11c.7162C>T (p.Arg2388Cys)
c.*6965C>T (n.*6965C>T)
c.745-4189C>T (n.745-4189C>T)
c.152-4189C>T
n.337C>T
c.7060C>T (p.Arg2354Cys)
c.6865C>T (p.Arg2289Cys)
c.7033C>T (p.Arg2345Cys)
 ClinVar dbSNP gnomAD v4
16g.89279380G>CCA397149120ANKRD11c.7162C>G (p.Arg2388Gly)
c.*6965C>G (n.*6965C>G)
c.745-4189C>G (n.745-4189C>G)
c.152-4189C>G
n.337C>G
c.7060C>G (p.Arg2354Gly)
c.6865C>G (p.Arg2289Gly)
c.7033C>G (p.Arg2345Gly)
16g.89279380G=CA2241586673ANKRD11c.7162C= (p.Arg2388=)
c.*6965C= (n.*6965C=)
c.745-4189C= (n.745-4189C=)
c.152-4189C=
n.337C=
c.7060C= (p.Arg2354=)
c.6865C= (p.Arg2289=)
c.7033C= (p.Arg2345=)
16g.89279380G>TCA397149121ANKRD11c.7162C>A (p.Arg2388Ser)
c.*6965C>A (n.*6965C>A)
c.745-4189C>A (n.745-4189C>A)
c.152-4189C>A
n.337C>A
c.7060C>A (p.Arg2354Ser)
c.6865C>A (p.Arg2289Ser)
c.7033C>A (p.Arg2345Ser)
 gnomAD v4
16g.89279381G>ACA8241289ANKRD11c.7161C>T (p.Arg2387=)
c.*6964C>T (n.*6964C>T)
c.745-4190C>T (n.745-4190C>T)
c.152-4190C>T
n.336C>T
c.7059C>T (p.Arg2353=)
c.6864C>T (p.Arg2288=)
c.7032C>T (p.Arg2344=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279381G>CCA497372579ANKRD11c.7161C>G (p.Arg2387=)
c.*6964C>G (n.*6964C>G)
c.745-4190C>G (n.745-4190C>G)
c.152-4190C>G
n.336C>G
c.7059C>G (p.Arg2353=)
c.6864C>G (p.Arg2288=)
c.7032C>G (p.Arg2344=)
16g.89279381G=CA2241586674ANKRD11c.7161C= (p.Arg2387=)
c.*6964C= (n.*6964C=)
c.745-4190C= (n.745-4190C=)
c.152-4190C=
n.336C=
c.7059C= (p.Arg2353=)
c.6864C= (p.Arg2288=)
c.7032C= (p.Arg2344=)
16g.89279381G>TCA497372577ANKRD11c.7161C>A (p.Arg2387=)
c.*6964C>A (n.*6964C>A)
c.745-4190C>A (n.745-4190C>A)
c.152-4190C>A
n.336C>A
c.7059C>A (p.Arg2353=)
c.6864C>A (p.Arg2288=)
c.7032C>A (p.Arg2344=)
 gnomAD v4
16g.89279382C>ACA397149125ANKRD11c.7160G>T (p.Arg2387Leu)
c.*6963G>T (n.*6963G>T)
c.745-4191G>T (n.745-4191G>T)
c.152-4191G>T
n.335G>T
c.7058G>T (p.Arg2353Leu)
c.6863G>T (p.Arg2288Leu)
c.7031G>T (p.Arg2344Leu)
16g.89279382C=CA2241586675ANKRD11c.7160G= (p.Arg2387=)
c.*6963G= (n.*6963G=)
c.745-4191G= (n.745-4191G=)
c.152-4191G=
n.335G=
c.7058G= (p.Arg2353=)
c.6863G= (p.Arg2288=)
c.7031G= (p.Arg2344=)
16g.89279382C>GCA397149127ANKRD11c.7160G>C (p.Arg2387Pro)
c.*6963G>C (n.*6963G>C)
c.745-4191G>C (n.745-4191G>C)
c.152-4191G>C
n.335G>C
c.7058G>C (p.Arg2353Pro)
c.6863G>C (p.Arg2288Pro)
c.7031G>C (p.Arg2344Pro)
 dbSNP gnomAD v2
16g.89279382C>TCA397149129ANKRD11c.7160G>A (p.Arg2387His)
c.*6963G>A (n.*6963G>A)
c.745-4191G>A (n.745-4191G>A)
c.152-4191G>A
n.335G>A
c.7058G>A (p.Arg2353His)
c.6863G>A (p.Arg2288His)
c.7031G>A (p.Arg2344His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279383G>ACA397149132ANKRD11c.7159C>T (p.Arg2387Cys)
c.*6962C>T (n.*6962C>T)
c.745-4192C>T (n.745-4192C>T)
c.152-4192C>T
n.334C>T
c.7057C>T (p.Arg2353Cys)
c.6862C>T (p.Arg2288Cys)
c.7030C>T (p.Arg2344Cys)
 dbSNP gnomAD v3 gnomAD v4
16g.89279383G>CCA397149135ANKRD11c.7159C>G (p.Arg2387Gly)
c.*6962C>G (n.*6962C>G)
c.745-4192C>G (n.745-4192C>G)
c.152-4192C>G
n.334C>G
c.7057C>G (p.Arg2353Gly)
c.6862C>G (p.Arg2288Gly)
c.7030C>G (p.Arg2344Gly)
16g.89279383G=CA2241586676ANKRD11c.7159C= (p.Arg2387=)
c.*6962C= (n.*6962C=)
c.745-4192C= (n.745-4192C=)
c.152-4192C=
n.334C=
c.7057C= (p.Arg2353=)
c.6862C= (p.Arg2288=)
c.7030C= (p.Arg2344=)
16g.89279383G>TCA397149133ANKRD11c.7159C>A (p.Arg2387Ser)
c.*6962C>A (n.*6962C>A)
c.745-4192C>A (n.745-4192C>A)
c.152-4192C>A
n.334C>A
c.7057C>A (p.Arg2353Ser)
c.6862C>A (p.Arg2288Ser)
c.7030C>A (p.Arg2344Ser)
16g.89279384T>ACA397149136ANKRD11c.7158A>T (p.Lys2386Asn)
c.*6961A>T (n.*6961A>T)
c.745-4193A>T (n.745-4193A>T)
c.152-4193A>T
n.333A>T
c.7056A>T (p.Lys2352Asn)
c.6861A>T (p.Lys2287Asn)
c.7029A>T (p.Lys2343Asn)
16g.89279384T>CCA497372586ANKRD11c.7158A>G (p.Lys2386=)
c.*6961A>G (n.*6961A>G)
c.745-4193A>G (n.745-4193A>G)
c.152-4193A>G
n.333A>G
c.7056A>G (p.Lys2352=)
c.6861A>G (p.Lys2287=)
c.7029A>G (p.Lys2343=)
16g.89279384T>GCA397149138ANKRD11c.7158A>C (p.Lys2386Asn)
c.*6961A>C (n.*6961A>C)
c.745-4193A>C (n.745-4193A>C)
c.152-4193A>C
n.333A>C
c.7056A>C (p.Lys2352Asn)
c.6861A>C (p.Lys2287Asn)
c.7029A>C (p.Lys2343Asn)
16g.89279385T>ACA397149140ANKRD11c.7157A>T (p.Lys2386Ile)
c.*6960A>T (n.*6960A>T)
c.745-4194A>T (n.745-4194A>T)
c.152-4194A>T
n.332A>T
c.7055A>T (p.Lys2352Ile)
c.6860A>T (p.Lys2287Ile)
c.7028A>T (p.Lys2343Ile)
16g.89279385T>CCA397149142ANKRD11c.7157A>G (p.Lys2386Arg)
c.*6960A>G (n.*6960A>G)
c.745-4194A>G (n.745-4194A>G)
c.152-4194A>G
n.332A>G
c.7055A>G (p.Lys2352Arg)
c.6860A>G (p.Lys2287Arg)
c.7028A>G (p.Lys2343Arg)
16g.89279385T>GCA397149144ANKRD11c.7157A>C (p.Lys2386Thr)
c.*6960A>C (n.*6960A>C)
c.745-4194A>C (n.745-4194A>C)
c.152-4194A>C
n.332A>C
c.7055A>C (p.Lys2352Thr)
c.6860A>C (p.Lys2287Thr)
c.7028A>C (p.Lys2343Thr)
16g.89279386T>ACA397149146ANKRD11c.7156A>T (p.Lys2386Ter)
c.*6959A>T (n.*6959A>T)
c.745-4195A>T (n.745-4195A>T)
c.152-4195A>T
n.331A>T
c.7054A>T (p.Lys2352Ter)
c.6859A>T (p.Lys2287Ter)
c.7027A>T (p.Lys2343Ter)
16g.89279386T>CCA397149148ANKRD11c.7156A>G (p.Lys2386Glu)
c.*6959A>G (n.*6959A>G)
c.745-4195A>G (n.745-4195A>G)
c.152-4195A>G
n.331A>G
c.7054A>G (p.Lys2352Glu)
c.6859A>G (p.Lys2287Glu)
c.7027A>G (p.Lys2343Glu)
16g.89279386T>GCA397149150ANKRD11c.7156A>C (p.Lys2386Gln)
c.*6959A>C (n.*6959A>C)
c.745-4195A>C (n.745-4195A>C)
c.152-4195A>C
n.331A>C
c.7054A>C (p.Lys2352Gln)
c.6859A>C (p.Lys2287Gln)
c.7027A>C (p.Lys2343Gln)
16g.89279387G>ACA497372591ANKRD11c.7155C>T (p.Arg2385=)
c.*6958C>T (n.*6958C>T)
c.745-4196C>T (n.745-4196C>T)
c.152-4196C>T
n.330C>T
c.7053C>T (p.Arg2351=)
c.6858C>T (p.Arg2286=)
c.7026C>T (p.Arg2342=)
 gnomAD v4
16g.89279387G>CCA497372593ANKRD11c.7155C>G (p.Arg2385=)
c.*6958C>G (n.*6958C>G)
c.745-4196C>G (n.745-4196C>G)
c.152-4196C>G
n.330C>G
c.7053C>G (p.Arg2351=)
c.6858C>G (p.Arg2286=)
c.7026C>G (p.Arg2342=)
 dbSNP
16g.89279387G=CA2241586677ANKRD11c.7155C= (p.Arg2385=)
c.*6958C= (n.*6958C=)
c.745-4196C= (n.745-4196C=)
c.152-4196C=
n.330C=
c.7053C= (p.Arg2351=)
c.6858C= (p.Arg2286=)
c.7026C= (p.Arg2342=)
16g.89279387G>TCA497372594ANKRD11c.7155C>A (p.Arg2385=)
c.*6958C>A (n.*6958C>A)
c.745-4196C>A (n.745-4196C>A)
c.152-4196C>A
n.330C>A
c.7053C>A (p.Arg2351=)
c.6858C>A (p.Arg2286=)
c.7026C>A (p.Arg2342=)
16g.89279388C>ACA397149152ANKRD11c.7154G>T (p.Arg2385Leu)
c.*6957G>T (n.*6957G>T)
c.745-4197G>T (n.745-4197G>T)
c.152-4197G>T
n.329G>T
c.7052G>T (p.Arg2351Leu)
c.6857G>T (p.Arg2286Leu)
c.7025G>T (p.Arg2342Leu)
 gnomAD v4
16g.89279388C=CA2241586678ANKRD11c.7154G= (p.Arg2385=)
c.*6957G= (n.*6957G=)
c.745-4197G= (n.745-4197G=)
c.152-4197G=
n.329G=
c.7052G= (p.Arg2351=)
c.6857G= (p.Arg2286=)
c.7025G= (p.Arg2342=)
16g.89279388C>GCA397149154ANKRD11c.7154G>C (p.Arg2385Pro)
c.*6957G>C (n.*6957G>C)
c.745-4197G>C (n.745-4197G>C)
c.152-4197G>C
n.329G>C
c.7052G>C (p.Arg2351Pro)
c.6857G>C (p.Arg2286Pro)
c.7025G>C (p.Arg2342Pro)
16g.89279388C>TCA397149156ANKRD11c.7154G>A (p.Arg2385His)
c.*6957G>A (n.*6957G>A)
c.745-4197G>A (n.745-4197G>A)
c.152-4197G>A
n.329G>A
c.7052G>A (p.Arg2351His)
c.6857G>A (p.Arg2286His)
c.7025G>A (p.Arg2342His)
 dbSNP gnomAD v4
16g.89279389G>ACA397149160ANKRD11c.7153C>T (p.Arg2385Cys)
c.*6956C>T (n.*6956C>T)
c.745-4198C>T (n.745-4198C>T)
c.152-4198C>T
n.328C>T
c.7051C>T (p.Arg2351Cys)
c.6856C>T (p.Arg2286Cys)
c.7024C>T (p.Arg2342Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89279389G>CCA397149162ANKRD11c.7153C>G (p.Arg2385Gly)
c.*6956C>G (n.*6956C>G)
c.745-4198C>G (n.745-4198C>G)
c.152-4198C>G
n.328C>G
c.7051C>G (p.Arg2351Gly)
c.6856C>G (p.Arg2286Gly)
c.7024C>G (p.Arg2342Gly)
16g.89279389G=CA2241586679ANKRD11c.7153C= (p.Arg2385=)
c.*6956C= (n.*6956C=)
c.745-4198C= (n.745-4198C=)
c.152-4198C=
n.328C=
c.7051C= (p.Arg2351=)
c.6856C= (p.Arg2286=)
c.7024C= (p.Arg2342=)
16g.89279389G>TCA397149158ANKRD11c.7153C>A (p.Arg2385Ser)
c.*6956C>A (n.*6956C>A)
c.745-4198C>A (n.745-4198C>A)
c.152-4198C>A
n.328C>A
c.7051C>A (p.Arg2351Ser)
c.6856C>A (p.Arg2286Ser)
c.7024C>A (p.Arg2342Ser)
16g.89279390C>ACA497372596ANKRD11c.7152G>T (p.Pro2384=)
c.*6955G>T (n.*6955G>T)
c.745-4199G>T (n.745-4199G>T)
c.152-4199G>T
n.327G>T
c.7050G>T (p.Pro2350=)
c.6855G>T (p.Pro2285=)
c.7023G>T (p.Pro2341=)
16g.89279390C=CA2241586680ANKRD11c.7152G= (p.Pro2384=)
c.*6955G= (n.*6955G=)
c.745-4199G= (n.745-4199G=)
c.152-4199G=
n.327G=
c.7050G= (p.Pro2350=)
c.6855G= (p.Pro2285=)
c.7023G= (p.Pro2341=)
16g.89279390C>GCA497372598ANKRD11c.7152G>C (p.Pro2384=)
c.*6955G>C (n.*6955G>C)
c.745-4199G>C (n.745-4199G>C)
c.152-4199G>C
n.327G>C
c.7050G>C (p.Pro2350=)
c.6855G>C (p.Pro2285=)
c.7023G>C (p.Pro2341=)
16g.89279390C>TCA497372599ANKRD11c.7152G>A (p.Pro2384=)
c.*6955G>A (n.*6955G>A)
c.745-4199G>A (n.745-4199G>A)
c.152-4199G>A
n.327G>A
c.7050G>A (p.Pro2350=)
c.6855G>A (p.Pro2285=)
c.7023G>A (p.Pro2341=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279391G>ACA397149164ANKRD11c.7151C>T (p.Pro2384Leu)
c.*6954C>T (n.*6954C>T)
c.745-4200C>T (n.745-4200C>T)
c.152-4200C>T
n.326C>T
c.7049C>T (p.Pro2350Leu)
c.6854C>T (p.Pro2285Leu)
c.7022C>T (p.Pro2341Leu)
 gnomAD v4
16g.89279391G>CCA397149166ANKRD11c.7151C>G (p.Pro2384Arg)
c.*6954C>G (n.*6954C>G)
c.745-4200C>G (n.745-4200C>G)
c.152-4200C>G
n.326C>G
c.7049C>G (p.Pro2350Arg)
c.6854C>G (p.Pro2285Arg)
c.7022C>G (p.Pro2341Arg)
16g.89279391G>TCA397149167ANKRD11c.7151C>A (p.Pro2384Gln)
c.*6954C>A (n.*6954C>A)
c.745-4200C>A (n.745-4200C>A)
c.152-4200C>A
n.326C>A
c.7049C>A (p.Pro2350Gln)
c.6854C>A (p.Pro2285Gln)
c.7022C>A (p.Pro2341Gln)
16g.89279392delCA2573152858ANKRD11c.7151del (p.Pro2384ArgfsTer17)
c.*6954del (n.*6954del)
c.745-4200del (n.745-4200del)
c.152-4200del
n.326del
c.7049del (p.Pro2350ArgfsTer17)
c.6854del (p.Pro2285ArgfsTer17)
c.7022del (p.Pro2341ArgfsTer17)
 dbSNP
16g.89279392G>ACA397149170ANKRD11c.7150C>T (p.Pro2384Ser)
c.*6953C>T (n.*6953C>T)
c.745-4201C>T (n.745-4201C>T)
c.152-4201C>T
n.325C>T
c.7048C>T (p.Pro2350Ser)
c.6853C>T (p.Pro2285Ser)
c.7021C>T (p.Pro2341Ser)
16g.89279392G>CCA397149172ANKRD11c.7150C>G (p.Pro2384Ala)
c.*6953C>G (n.*6953C>G)
c.745-4201C>G (n.745-4201C>G)
c.152-4201C>G
n.325C>G
c.7048C>G (p.Pro2350Ala)
c.6853C>G (p.Pro2285Ala)
c.7021C>G (p.Pro2341Ala)
16g.89279392G>TCA397149174ANKRD11c.7150C>A (p.Pro2384Thr)
c.*6953C>A (n.*6953C>A)
c.745-4201C>A (n.745-4201C>A)
c.152-4201C>A
n.325C>A
c.7048C>A (p.Pro2350Thr)
c.6853C>A (p.Pro2285Thr)
c.7021C>A (p.Pro2341Thr)
16g.89279392_89279393delinsTTCA2580613926ANKRD11c.7149_7150delinsAA (p.His2383_Pro2384delinsGlnThr)
c.*6952_*6953delinsAA (n.*6952_*6953delinsAA)
c.745-4202_745-4201delinsAA (n.745-4202_745-4201delinsAA)
c.152-4202_152-4201delinsAA
n.324_325delinsAA
c.7047_7048delinsAA (p.His2349_Pro2350delinsGlnThr)
c.6852_6853delinsAA (p.His2284_Pro2285delinsGlnThr)
c.7020_7021delinsAA (p.His2340_Pro2341delinsGlnThr)
 ClinVar
16g.89279393A=CA2241586681ANKRD11c.7149T= (p.His2383=)
c.*6952T= (n.*6952T=)
c.745-4202T= (n.745-4202T=)
c.152-4202T=
n.324T=
c.7047T= (p.His2349=)
c.6852T= (p.His2284=)
c.7020T= (p.His2340=)
16g.89279393A>CCA397149176ANKRD11c.7149T>G (p.His2383Gln)
c.*6952T>G (n.*6952T>G)
c.745-4202T>G (n.745-4202T>G)
c.152-4202T>G
n.324T>G
c.7047T>G (p.His2349Gln)
c.6852T>G (p.His2284Gln)
c.7020T>G (p.His2340Gln)
 dbSNP gnomAD v4
16g.89279393A>GCA497372605ANKRD11c.7149T>C (p.His2383=)
c.*6952T>C (n.*6952T>C)
c.745-4202T>C (n.745-4202T>C)
c.152-4202T>C
n.324T>C
c.7047T>C (p.His2349=)
c.6852T>C (p.His2284=)
c.7020T>C (p.His2340=)
16g.89279393A>TCA397149177ANKRD11c.7149T>A (p.His2383Gln)
c.*6952T>A (n.*6952T>A)
c.745-4202T>A (n.745-4202T>A)
c.152-4202T>A
n.324T>A
c.7047T>A (p.His2349Gln)
c.6852T>A (p.His2284Gln)
c.7020T>A (p.His2340Gln)
16g.89279394T>ACA397149179ANKRD11c.7148A>T (p.His2383Leu)
c.*6951A>T (n.*6951A>T)
c.745-4203A>T (n.745-4203A>T)
c.152-4203A>T
n.323A>T
c.7046A>T (p.His2349Leu)
c.6851A>T (p.His2284Leu)
c.7019A>T (p.His2340Leu)
16g.89279394T>CCA397149181ANKRD11c.7148A>G (p.His2383Arg)
c.*6951A>G (n.*6951A>G)
c.745-4203A>G (n.745-4203A>G)
c.152-4203A>G
n.323A>G
c.7046A>G (p.His2349Arg)
c.6851A>G (p.His2284Arg)
c.7019A>G (p.His2340Arg)
16g.89279394T>GCA397149183ANKRD11c.7148A>C (p.His2383Pro)
c.*6951A>C (n.*6951A>C)
c.745-4203A>C (n.745-4203A>C)
c.152-4203A>C
n.323A>C
c.7046A>C (p.His2349Pro)
c.6851A>C (p.His2284Pro)
c.7019A>C (p.His2340Pro)
16g.89279395G>ACA397149185ANKRD11c.7147C>T (p.His2383Tyr)
c.*6950C>T (n.*6950C>T)
c.745-4204C>T (n.745-4204C>T)
c.152-4204C>T
n.322C>T
c.7045C>T (p.His2349Tyr)
c.6850C>T (p.His2284Tyr)
c.7018C>T (p.His2340Tyr)
 ClinVar dbSNP gnomAD v4
16g.89279395G>CCA397149186ANKRD11c.7147C>G (p.His2383Asp)
c.*6950C>G (n.*6950C>G)
c.745-4204C>G (n.745-4204C>G)
c.152-4204C>G
n.322C>G
c.7045C>G (p.His2349Asp)
c.6850C>G (p.His2284Asp)
c.7018C>G (p.His2340Asp)
16g.89279395G=CA2241586682ANKRD11c.7147C= (p.His2383=)
c.*6950C= (n.*6950C=)
c.745-4204C= (n.745-4204C=)
c.152-4204C=
n.322C=
c.7045C= (p.His2349=)
c.6850C= (p.His2284=)
c.7018C= (p.His2340=)
16g.89279395G>TCA397149188ANKRD11c.7147C>A (p.His2383Asn)
c.*6950C>A (n.*6950C>A)
c.745-4204C>A (n.745-4204C>A)
c.152-4204C>A
n.322C>A
c.7045C>A (p.His2349Asn)
c.6850C>A (p.His2284Asn)
c.7018C>A (p.His2340Asn)
 gnomAD v4
16g.89279396C>ACA397149191ANKRD11c.7146G>T (p.Gln2382His)
c.*6949G>T (n.*6949G>T)
c.745-4205G>T (n.745-4205G>T)
c.152-4205G>T
n.321G>T
c.7044G>T (p.Gln2348His)
c.6849G>T (p.Gln2283His)
c.7017G>T (p.Gln2339His)
16g.89279396C>GCA397149190ANKRD11c.7146G>C (p.Gln2382His)
c.*6949G>C (n.*6949G>C)
c.745-4205G>C (n.745-4205G>C)
c.152-4205G>C
n.321G>C
c.7044G>C (p.Gln2348His)
c.6849G>C (p.Gln2283His)
c.7017G>C (p.Gln2339His)
16g.89279396C>TCA497372608ANKRD11c.7146G>A (p.Gln2382=)
c.*6949G>A (n.*6949G>A)
c.745-4205G>A (n.745-4205G>A)
c.152-4205G>A
n.321G>A
c.7044G>A (p.Gln2348=)
c.6849G>A (p.Gln2283=)
c.7017G>A (p.Gln2339=)
 gnomAD v4
16g.89279397T>ACA397149193ANKRD11c.7145A>T (p.Gln2382Leu)
c.*6948A>T (n.*6948A>T)
c.745-4206A>T (n.745-4206A>T)
c.152-4206A>T
n.320A>T
c.7043A>T (p.Gln2348Leu)
c.6848A>T (p.Gln2283Leu)
c.7016A>T (p.Gln2339Leu)
16g.89279397T>CCA397149195ANKRD11c.7145A>G (p.Gln2382Arg)
c.*6948A>G (n.*6948A>G)
c.745-4206A>G (n.745-4206A>G)
c.152-4206A>G
n.320A>G
c.7043A>G (p.Gln2348Arg)
c.6848A>G (p.Gln2283Arg)
c.7016A>G (p.Gln2339Arg)
16g.89279397T>GCA397149196ANKRD11c.7145A>C (p.Gln2382Pro)
c.*6948A>C (n.*6948A>C)
c.745-4206A>C (n.745-4206A>C)
c.152-4206A>C
n.320A>C
c.7043A>C (p.Gln2348Pro)
c.6848A>C (p.Gln2283Pro)
c.7016A>C (p.Gln2339Pro)
16g.89279397T=CA2241586683ANKRD11c.7145A= (p.Gln2382=)
c.*6948A= (n.*6948A=)
c.745-4206A= (n.745-4206A=)
c.152-4206A=
n.320A=
c.7043A= (p.Gln2348=)
c.6848A= (p.Gln2283=)
c.7016A= (p.Gln2339=)
16g.89279398G>ACA397149199ANKRD11c.7144C>T (p.Gln2382Ter)
c.*6947C>T (n.*6947C>T)
c.745-4207C>T (n.745-4207C>T)
c.152-4207C>T
n.319C>T
c.7042C>T (p.Gln2348Ter)
c.6847C>T (p.Gln2283Ter)
c.7015C>T (p.Gln2339Ter)
 ClinVar dbSNP
16g.89279398G>CCA397149200ANKRD11c.7144C>G (p.Gln2382Glu)
c.*6947C>G (n.*6947C>G)
c.745-4207C>G (n.745-4207C>G)
c.152-4207C>G
n.319C>G
c.7042C>G (p.Gln2348Glu)
c.6847C>G (p.Gln2283Glu)
c.7015C>G (p.Gln2339Glu)
16g.89279398G>TCA397149202ANKRD11c.7144C>A (p.Gln2382Lys)
c.*6947C>A (n.*6947C>A)
c.745-4207C>A (n.745-4207C>A)
c.152-4207C>A
n.319C>A
c.7042C>A (p.Gln2348Lys)
c.6847C>A (p.Gln2283Lys)
c.7015C>A (p.Gln2339Lys)
16g.89279400dupCA915949406ANKRD11c.7144dup (p.Gln2382ProfsTer?)
c.*6947dup (n.*6947dup)
c.745-4207dup (n.745-4207dup)
c.152-4207dup
n.319dup
c.7042dup (p.Gln2348ProfsTer?)
c.6847dup (p.Gln2283ProfsTer?)
c.7015dup (p.Gln2339ProfsTer?)
 ClinVar dbSNP
16g.89279399G>ACA497372613ANKRD11c.7143C>T (p.Ala2381=)
c.*6946C>T (n.*6946C>T)
c.745-4208C>T (n.745-4208C>T)
c.152-4208C>T
n.318C>T
c.7041C>T (p.Ala2347=)
c.6846C>T (p.Ala2282=)
c.7014C>T (p.Ala2338=)
16g.89279399G>CCA497372615ANKRD11c.7143C>G (p.Ala2381=)
c.*6946C>G (n.*6946C>G)
c.745-4208C>G (n.745-4208C>G)
c.152-4208C>G
n.318C>G
c.7041C>G (p.Ala2347=)
c.6846C>G (p.Ala2282=)
c.7014C>G (p.Ala2338=)
 gnomAD v4
16g.89279399G=CA2241586684ANKRD11c.7143C= (p.Ala2381=)
c.*6946C= (n.*6946C=)
c.745-4208C= (n.745-4208C=)
c.152-4208C=
n.318C=
c.7041C= (p.Ala2347=)
c.6846C= (p.Ala2282=)
c.7014C= (p.Ala2338=)
16g.89279399G>TCA497372616ANKRD11c.7143C>A (p.Ala2381=)
c.*6946C>A (n.*6946C>A)
c.745-4208C>A (n.745-4208C>A)
c.152-4208C>A
n.318C>A
c.7041C>A (p.Ala2347=)
c.6846C>A (p.Ala2282=)
c.7014C>A (p.Ala2338=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279400G>ACA397149216ANKRD11c.7142C>T (p.Ala2381Val)
c.*6945C>T (n.*6945C>T)
c.745-4209C>T (n.745-4209C>T)
c.152-4209C>T
n.317C>T
c.7040C>T (p.Ala2347Val)
c.6845C>T (p.Ala2282Val)
c.7013C>T (p.Ala2338Val)
16g.89279400G>CCA397149212ANKRD11c.7142C>G (p.Ala2381Gly)
c.*6945C>G (n.*6945C>G)
c.745-4209C>G (n.745-4209C>G)
c.152-4209C>G
n.317C>G
c.7040C>G (p.Ala2347Gly)
c.6845C>G (p.Ala2282Gly)
c.7013C>G (p.Ala2338Gly)
16g.89279400G>TCA397149214ANKRD11c.7142C>A (p.Ala2381Asp)
c.*6945C>A (n.*6945C>A)
c.745-4209C>A (n.745-4209C>A)
c.152-4209C>A
n.317C>A
c.7040C>A (p.Ala2347Asp)
c.6845C>A (p.Ala2282Asp)
c.7013C>A (p.Ala2338Asp)
16g.89279401C>ACA397149217ANKRD11c.7141G>T (p.Ala2381Ser)
c.*6944G>T (n.*6944G>T)
c.745-4210G>T (n.745-4210G>T)
c.152-4210G>T
n.316G>T
c.7039G>T (p.Ala2347Ser)
c.6844G>T (p.Ala2282Ser)
c.7012G>T (p.Ala2338Ser)
 gnomAD v4
16g.89279401C=CA2241586685ANKRD11c.7141G= (p.Ala2381=)
c.*6944G= (n.*6944G=)
c.745-4210G= (n.745-4210G=)
c.152-4210G=
n.316G=
c.7039G= (p.Ala2347=)
c.6844G= (p.Ala2282=)
c.7012G= (p.Ala2338=)
16g.89279401C>GCA397149218ANKRD11c.7141G>C (p.Ala2381Pro)
c.*6944G>C (n.*6944G>C)
c.745-4210G>C (n.745-4210G>C)
c.152-4210G>C
n.316G>C
c.7039G>C (p.Ala2347Pro)
c.6844G>C (p.Ala2282Pro)
c.7012G>C (p.Ala2338Pro)
 gnomAD v4
16g.89279401C>TCA286509474ANKRD11c.7141G>A (p.Ala2381Thr)
c.*6944G>A (n.*6944G>A)
c.745-4210G>A (n.745-4210G>A)
c.152-4210G>A
n.316G>A
c.7039G>A (p.Ala2347Thr)
c.6844G>A (p.Ala2282Thr)
c.7012G>A (p.Ala2338Thr)
 dbSNP gnomAD v4
16g.89279402C>ACA397149223ANKRD11c.7140G>T (p.Gln2380His)
c.*6943G>T (n.*6943G>T)
c.745-4211G>T (n.745-4211G>T)
c.152-4211G>T
n.315G>T
c.7038G>T (p.Gln2346His)
c.6843G>T (p.Gln2281His)
c.7011G>T (p.Gln2337His)
16g.89279402C=CA2241586686ANKRD11c.7140G= (p.Gln2380=)
c.*6943G= (n.*6943G=)
c.745-4211G= (n.745-4211G=)
c.152-4211G=
n.315G=
c.7038G= (p.Gln2346=)
c.6843G= (p.Gln2281=)
c.7011G= (p.Gln2337=)
16g.89279402C>GCA397149225ANKRD11c.7140G>C (p.Gln2380His)
c.*6943G>C (n.*6943G>C)
c.745-4211G>C (n.745-4211G>C)
c.152-4211G>C
n.315G>C
c.7038G>C (p.Gln2346His)
c.6843G>C (p.Gln2281His)
c.7011G>C (p.Gln2337His)
16g.89279402C>TCA497372622ANKRD11c.7140G>A (p.Gln2380=)
c.*6943G>A (n.*6943G>A)
c.745-4211G>A (n.745-4211G>A)
c.152-4211G>A
n.315G>A
c.7038G>A (p.Gln2346=)
c.6843G>A (p.Gln2281=)
c.7011G>A (p.Gln2337=)
 dbSNP
16g.89279403T>ACA397149226ANKRD11c.7139A>T (p.Gln2380Leu)
c.*6942A>T (n.*6942A>T)
c.745-4212A>T (n.745-4212A>T)
c.152-4212A>T
n.314A>T
c.7037A>T (p.Gln2346Leu)
c.6842A>T (p.Gln2281Leu)
c.7010A>T (p.Gln2337Leu)
16g.89279403T>CCA397149230ANKRD11c.7139A>G (p.Gln2380Arg)
c.*6942A>G (n.*6942A>G)
c.745-4212A>G (n.745-4212A>G)
c.152-4212A>G
n.314A>G
c.7037A>G (p.Gln2346Arg)
c.6842A>G (p.Gln2281Arg)
c.7010A>G (p.Gln2337Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279403T>GCA397149228ANKRD11c.7139A>C (p.Gln2380Pro)
c.*6942A>C (n.*6942A>C)
c.745-4212A>C (n.745-4212A>C)
c.152-4212A>C
n.314A>C
c.7037A>C (p.Gln2346Pro)
c.6842A>C (p.Gln2281Pro)
c.7010A>C (p.Gln2337Pro)
16g.89279403T=CA2241586687ANKRD11c.7139A= (p.Gln2380=)
c.*6942A= (n.*6942A=)
c.745-4212A= (n.745-4212A=)
c.152-4212A=
n.314A=
c.7037A= (p.Gln2346=)
c.6842A= (p.Gln2281=)
c.7010A= (p.Gln2337=)
16g.89279404G>ACA16608326ANKRD11c.7138C>T (p.Gln2380Ter)
c.*6941C>T (n.*6941C>T)
c.745-4213C>T (n.745-4213C>T)
c.152-4213C>T
n.313C>T
c.7036C>T (p.Gln2346Ter)
c.6841C>T (p.Gln2281Ter)
c.7009C>T (p.Gln2337Ter)
 ClinVar dbSNP
16g.89279404G>CCA397149232ANKRD11c.7138C>G (p.Gln2380Glu)
c.*6941C>G (n.*6941C>G)
c.745-4213C>G (n.745-4213C>G)
c.152-4213C>G
n.313C>G
c.7036C>G (p.Gln2346Glu)
c.6841C>G (p.Gln2281Glu)
c.7009C>G (p.Gln2337Glu)
 gnomAD v4
16g.89279404G=CA2241586688ANKRD11c.7138C= (p.Gln2380=)
c.*6941C= (n.*6941C=)
c.745-4213C= (n.745-4213C=)
c.152-4213C=
n.313C=
c.7036C= (p.Gln2346=)
c.6841C= (p.Gln2281=)
c.7009C= (p.Gln2337=)
16g.89279404G>TCA397149233ANKRD11c.7138C>A (p.Gln2380Lys)
c.*6941C>A (n.*6941C>A)
c.745-4213C>A (n.745-4213C>A)
c.152-4213C>A
n.313C>A
c.7036C>A (p.Gln2346Lys)
c.6841C>A (p.Gln2281Lys)
c.7009C>A (p.Gln2337Lys)
16g.89279404_89279434delinsGGGCGTCGTCGTCCTCGGAGCCGCGGGCCTTCA2241586689ANKRD11c.7108_7138delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2370=)
c.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.*6911_*6941delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC)
c.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (n.745-4243_745-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC)
c.152-4243_152-4213delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC
n.283_313delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC
c.7006_7036delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2336=)
c.6811_6841delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2271=)
c.6979_7009delinsAAGGCCCGCGGCTCCGAGGACGACGACGCCC (p.Lys2327=)
16g.89279405G>ACA497372624ANKRD11c.7137C>T (p.Ala2379=)
c.*6940C>T (n.*6940C>T)
c.745-4214C>T (n.745-4214C>T)
c.152-4214C>T
n.312C>T
c.7035C>T (p.Ala2345=)
c.6840C>T (p.Ala2280=)
c.7008C>T (p.Ala2336=)
16g.89279405G>CCA497372625ANKRD11c.7137C>G (p.Ala2379=)
c.*6940C>G (n.*6940C>G)
c.745-4214C>G (n.745-4214C>G)
c.152-4214C>G
n.312C>G
c.7035C>G (p.Ala2345=)
c.6840C>G (p.Ala2280=)
c.7008C>G (p.Ala2336=)
16g.89279405G>TCA497372626ANKRD11c.7137C>A (p.Ala2379=)
c.*6940C>A (n.*6940C>A)
c.745-4214C>A (n.745-4214C>A)
c.152-4214C>A
n.312C>A
c.7035C>A (p.Ala2345=)
c.6840C>A (p.Ala2280=)
c.7008C>A (p.Ala2336=)
16g.89279405_89279407delinsGGCCA2241586691ANKRD11c.7135_7137delinsGCC (p.Ala2379=)
c.*6938_*6940delinsGCC (n.*6938_*6940delinsGCC)
c.745-4216_745-4214delinsGCC (n.745-4216_745-4214delinsGCC)
c.152-4216_152-4214delinsGCC
n.310_312delinsGCC
c.7033_7035delinsGCC (p.Ala2345=)
c.6838_6840delinsGCC (p.Ala2280=)
c.7006_7008delinsGCC (p.Ala2336=)
16g.89279408_89279437delCA2241586690ANKRD11c.7108_7137del (p.Lys2370_Ala2379del)
c.*6911_*6940del (n.*6911_*6940del)
c.745-4243_745-4214del (n.745-4243_745-4214del)
c.152-4243_152-4214del
n.283_312del
c.7006_7035del (p.Lys2336_Ala2345del)
c.6811_6840del (p.Lys2271_Ala2280del)
c.6979_7008del (p.Lys2327_Ala2336del)
 dbSNP
16g.89279406G>ACA397149236ANKRD11c.7136C>T (p.Ala2379Val)
c.*6939C>T (n.*6939C>T)
c.745-4215C>T (n.745-4215C>T)
c.152-4215C>T
n.311C>T
c.7034C>T (p.Ala2345Val)
c.6839C>T (p.Ala2280Val)
c.7007C>T (p.Ala2336Val)
 gnomAD v4
16g.89279406G>CCA286509479ANKRD11c.7136C>G (p.Ala2379Gly)
c.*6939C>G (n.*6939C>G)
c.745-4215C>G (n.745-4215C>G)
c.152-4215C>G
n.311C>G
c.7034C>G (p.Ala2345Gly)
c.6839C>G (p.Ala2280Gly)
c.7007C>G (p.Ala2336Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279406G=CA2241586693ANKRD11c.7136C= (p.Ala2379=)
c.*6939C= (n.*6939C=)
c.745-4215C= (n.745-4215C=)
c.152-4215C=
n.311C=
c.7034C= (p.Ala2345=)
c.6839C= (p.Ala2280=)
c.7007C= (p.Ala2336=)
16g.89279406G>TCA397149239ANKRD11c.7136C>A (p.Ala2379Asp)
c.*6939C>A (n.*6939C>A)
c.745-4215C>A (n.745-4215C>A)
c.152-4215C>A
n.311C>A
c.7034C>A (p.Ala2345Asp)
c.6839C>A (p.Ala2280Asp)
c.7007C>A (p.Ala2336Asp)
 gnomAD v4
16g.89279407_89279408delCA980389759ANKRD11c.7135_7136del (p.Ala2379ProfsTer?)
c.*6938_*6939del (n.*6938_*6939del)
c.745-4216_745-4215del (n.745-4216_745-4215del)
c.152-4216_152-4215del
n.310_311del
c.7033_7034del (p.Ala2345ProfsTer?)
c.6838_6839del (p.Ala2280ProfsTer?)
c.7006_7007del (p.Ala2336ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
16g.89279406_89279409delinsGCGTCA2241586692ANKRD11c.7133_7136delinsACGC (p.Asp2378=)
c.*6936_*6939delinsACGC (n.*6936_*6939delinsACGC)
c.745-4218_745-4215delinsACGC (n.745-4218_745-4215delinsACGC)
c.152-4218_152-4215delinsACGC
n.308_311delinsACGC
c.7031_7034delinsACGC (p.Asp2344=)
c.6836_6839delinsACGC (p.Asp2279=)
c.7004_7007delinsACGC (p.Asp2335=)
16g.89279407C>ACA397149242ANKRD11c.7135G>T (p.Ala2379Ser)
c.*6938G>T (n.*6938G>T)
c.745-4216G>T (n.745-4216G>T)
c.152-4216G>T
n.310G>T
c.7033G>T (p.Ala2345Ser)
c.6838G>T (p.Ala2280Ser)
c.7006G>T (p.Ala2336Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279407C=CA2241586694ANKRD11c.7135G= (p.Ala2379=)
c.*6938G= (n.*6938G=)
c.745-4216G= (n.745-4216G=)
c.152-4216G=
n.310G=
c.7033G= (p.Ala2345=)
c.6838G= (p.Ala2280=)
c.7006G= (p.Ala2336=)
16g.89279407C>GCA397149244ANKRD11c.7135G>C (p.Ala2379Pro)
c.*6938G>C (n.*6938G>C)
c.745-4216G>C (n.745-4216G>C)
c.152-4216G>C
n.310G>C
c.7033G>C (p.Ala2345Pro)
c.6838G>C (p.Ala2280Pro)
c.7006G>C (p.Ala2336Pro)
16g.89279407C>TCA397149246ANKRD11c.7135G>A (p.Ala2379Thr)
c.*6938G>A (n.*6938G>A)
c.745-4216G>A (n.745-4216G>A)
c.152-4216G>A
n.310G>A
c.7033G>A (p.Ala2345Thr)
c.6838G>A (p.Ala2280Thr)
c.7006G>A (p.Ala2336Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.89279414_89279416dupCA2808088001ANKRD11c.7133_7135dup (p.Asp2378_Ala2379insAsp)
c.*6936_*6938dup (n.*6936_*6938dup)
c.745-4218_745-4216dup (n.745-4218_745-4216dup)
c.152-4218_152-4216dup
n.308_310dup
c.7031_7033dup (p.Asp2344_Ala2345insAsp)
c.6836_6838dup (p.Asp2279_Ala2280insAsp)
c.7004_7006dup (p.Asp2335_Ala2336insAsp)
16g.89279414_89279416delCA8241290ANKRD11c.7133_7135del (p.Asp2378del)
c.*6936_*6938del (n.*6936_*6938del)
c.745-4218_745-4216del (n.745-4218_745-4216del)
c.152-4218_152-4216del
n.308_310del
c.7031_7033del (p.Asp2344del)
c.6836_6838del (p.Asp2279del)
c.7004_7006del (p.Asp2335del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89279408G>ACA497372637ANKRD11c.7134C>T (p.Asp2378=)
c.*6937C>T (n.*6937C>T)
c.745-4217C>T (n.745-4217C>T)
c.152-4217C>T
n.309C>T
c.7032C>T (p.Asp2344=)
c.6837C>T (p.Asp2279=)
c.7005C>T (p.Asp2335=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89279408G>CCA397149249ANKRD11c.7134C>G (p.Asp2378Glu)
c.*6937C>G (n.*6937C>G)
c.745-4217C>G (n.745-4217C>G)
c.152-4217C>G
n.309C>G
c.7032C>G (p.Asp2344Glu)
c.6837C>G (p.Asp2279Glu)
c.7005C>G (p.Asp2335Glu)
16g.89279408G=CA2241586695ANKRD11c.7134C= (p.Asp2378=)
c.*6937C= (n.*6937C=)
c.745-4217C= (n.745-4217C=)
c.152-4217C=
n.309C=
c.7032C= (p.Asp2344=)
c.6837C= (p.Asp2279=)
c.7005C= (p.Asp2335=)
16g.89279408G>TCA397149251ANKRD11c.7134C>A (p.Asp2378Glu)
c.*6937C>A (n.*6937C>A)
c.745-4217C>A (n.745-4217C>A)
c.152-4217C>A
n.309C>A
c.7032C>A (p.Asp2344Glu)
c.6837C>A (p.Asp2279Glu)
c.7005C>A (p.Asp2335Glu)
16g.89279409T>ACA397149254ANKRD11c.7133A>T (p.Asp2378Val)
c.*6936A>T (n.*6936A>T)
c.745-4218A>T (n.745-4218A>T)
c.152-4218A>T
n.308A>T
c.7031A>T (p.Asp2344Val)
c.6836A>T (p.Asp2279Val)
c.7004A>T (p.Asp2335Val)
16g.89279409T>CCA397149253ANKRD11c.7133A>G (p.Asp2378Gly)
c.*6936A>G (n.*6936A>G)
c.745-4218A>G (n.745-4218A>G)
c.152-4218A>G
n.308A>G
c.7031A>G (p.Asp2344Gly)
c.6836A>G (p.Asp2279Gly)
c.7004A>G (p.Asp2335Gly)
 gnomAD v4
16g.89279409T>GCA8241291ANKRD11c.7133A>C (p.Asp2378Ala)
c.*6936A>C (n.*6936A>C)
c.745-4218A>C (n.745-4218A>C)
c.152-4218A>C
n.308A>C
c.7031A>C (p.Asp2344Ala)
c.6836A>C (p.Asp2279Ala)
c.7004A>C (p.Asp2335Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279409T=CA2241586696ANKRD11c.7133A= (p.Asp2378=)
c.*6936A= (n.*6936A=)
c.745-4218A= (n.745-4218A=)
c.152-4218A=
n.308A=
c.7031A= (p.Asp2344=)
c.6836A= (p.Asp2279=)
c.7004A= (p.Asp2335=)
16g.89279409_89279410delinsTCCA2241586697ANKRD11c.7132_7133delinsGA (p.Asp2378=)
c.*6935_*6936delinsGA (n.*6935_*6936delinsGA)
c.745-4219_745-4218delinsGA (n.745-4219_745-4218delinsGA)
c.152-4219_152-4218delinsGA
n.307_308delinsGA
c.7030_7031delinsGA (p.Asp2344=)
c.6835_6836delinsGA (p.Asp2279=)
c.7003_7004delinsGA (p.Asp2335=)
16g.89279410delCA980389764ANKRD11c.7132del (p.Asp2378ThrfsTer23)
c.*6935del (n.*6935del)
c.745-4219del (n.745-4219del)
c.152-4219del
n.307del
c.7030del (p.Asp2344ThrfsTer23)
c.6835del (p.Asp2279ThrfsTer23)
c.7003del (p.Asp2335ThrfsTer23)
 dbSNP gnomAD v3 gnomAD v4
16g.89279410C>ACA397149256ANKRD11c.7132G>T (p.Asp2378Tyr)
c.*6935G>T (n.*6935G>T)
c.745-4219G>T (n.745-4219G>T)
c.152-4219G>T
n.307G>T
c.7030G>T (p.Asp2344Tyr)
c.6835G>T (p.Asp2279Tyr)
c.7003G>T (p.Asp2335Tyr)
 gnomAD v4
16g.89279410C=CA2241586698ANKRD11c.7132G= (p.Asp2378=)
c.*6935G= (n.*6935G=)
c.745-4219G= (n.745-4219G=)
c.152-4219G=
n.307G=
c.7030G= (p.Asp2344=)
c.6835G= (p.Asp2279=)
c.7003G= (p.Asp2335=)
16g.89279410C>GCA397149258ANKRD11c.7132G>C (p.Asp2378His)
c.*6935G>C (n.*6935G>C)
c.745-4219G>C (n.745-4219G>C)
c.152-4219G>C
n.307G>C
c.7030G>C (p.Asp2344His)
c.6835G>C (p.Asp2279His)
c.7003G>C (p.Asp2335His)
16g.89279410C>TCA286509486ANKRD11c.7132G>A (p.Asp2378Asn)
c.*6935G>A (n.*6935G>A)
c.745-4219G>A (n.745-4219G>A)
c.152-4219G>A
n.307G>A
c.7030G>A (p.Asp2344Asn)
c.6835G>A (p.Asp2279Asn)
c.7003G>A (p.Asp2335Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279411G>ACA286509489ANKRD11c.7131C>T (p.Asp2377=)
c.*6934C>T (n.*6934C>T)
c.745-4220C>T (n.745-4220C>T)
c.152-4220C>T
n.306C>T
c.7029C>T (p.Asp2343=)
c.6834C>T (p.Asp2278=)
c.7002C>T (p.Asp2334=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89279411G>CCA397149261ANKRD11c.7131C>G (p.Asp2377Glu)
c.*6934C>G (n.*6934C>G)
c.745-4220C>G (n.745-4220C>G)
c.152-4220C>G
n.306C>G
c.7029C>G (p.Asp2343Glu)
c.6834C>G (p.Asp2278Glu)
c.7002C>G (p.Asp2334Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89279411G=CA2241586699ANKRD11c.7131C= (p.Asp2377=)
c.*6934C= (n.*6934C=)
c.745-4220C= (n.745-4220C=)
c.152-4220C=
n.306C=
c.7029C= (p.Asp2343=)
c.6834C= (p.Asp2278=)
c.7002C= (p.Asp2334=)
16g.89279411G>TCA397149262ANKRD11c.7131C>A (p.Asp2377Glu)
c.*6934C>A (n.*6934C>A)
c.745-4220C>A (n.745-4220C>A)
c.152-4220C>A
n.306C>A
c.7029C>A (p.Asp2343Glu)
c.6834C>A (p.Asp2278Glu)
c.7002C>A (p.Asp2334Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.89279412T>ACA397149263ANKRD11c.7130A>T (p.Asp2377Val)
c.*6933A>T (n.*6933A>T)
c.745-4221A>T (n.745-4221A>T)
c.152-4221A>T
n.305A>T
c.7028A>T (p.Asp2343Val)
c.6833A>T (p.Asp2278Val)
c.7001A>T (p.Asp2334Val)
 dbSNP gnomAD v4
16g.89279412T>CCA397149264ANKRD11c.7130A>G (p.Asp2377Gly)
c.*6933A>G (n.*6933A>G)
c.745-4221A>G (n.745-4221A>G)
c.152-4221A>G
n.305A>G
c.7028A>G (p.Asp2343Gly)
c.6833A>G (p.Asp2278Gly)
c.7001A>G (p.Asp2334Gly)
16g.89279412T>GCA397149265ANKRD11c.7130A>C (p.Asp2377Ala)
c.*6933A>C (n.*6933A>C)
c.745-4221A>C (n.745-4221A>C)
c.152-4221A>C
n.305A>C
c.7028A>C (p.Asp2343Ala)
c.6833A>C (p.Asp2278Ala)
c.7001A>C (p.Asp2334Ala)
 gnomAD v4
16g.89279412T=CA2241586700ANKRD11c.7130A= (p.Asp2377=)
c.*6933A= (n.*6933A=)
c.745-4221A= (n.745-4221A=)
c.152-4221A=
n.305A=
c.7028A= (p.Asp2343=)
c.6833A= (p.Asp2278=)
c.7001A= (p.Asp2334=)
16g.89279413C>ACA286509492ANKRD11c.7129G>T (p.Asp2377Tyr)
c.*6932G>T (n.*6932G>T)
c.745-4222G>T (n.745-4222G>T)
c.152-4222G>T
n.304G>T
c.7027G>T (p.Asp2343Tyr)
c.6832G>T (p.Asp2278Tyr)
c.7000G>T (p.Asp2334Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279413C=CA2241586701ANKRD11c.7129G= (p.Asp2377=)
c.*6932G= (n.*6932G=)
c.745-4222G= (n.745-4222G=)
c.152-4222G=
n.304G=
c.7027G= (p.Asp2343=)
c.6832G= (p.Asp2278=)
c.7000G= (p.Asp2334=)
16g.89279413C>GCA397149266ANKRD11c.7129G>C (p.Asp2377His)
c.*6932G>C (n.*6932G>C)
c.745-4222G>C (n.745-4222G>C)
c.152-4222G>C
n.304G>C
c.7027G>C (p.Asp2343His)
c.6832G>C (p.Asp2278His)
c.7000G>C (p.Asp2334His)
16g.89279413C>TCA397149267ANKRD11c.7129G>A (p.Asp2377Asn)
c.*6932G>A (n.*6932G>A)
c.745-4222G>A (n.745-4222G>A)
c.152-4222G>A
n.304G>A
c.7027G>A (p.Asp2343Asn)
c.6832G>A (p.Asp2278Asn)
c.7000G>A (p.Asp2334Asn)
16g.89279413_89279414delinsACCA2740093464ANKRD11c.7128_7129delinsGT (p.Asp2376_Asp2377delinsGluTyr)
c.*6931_*6932delinsGT (n.*6931_*6932delinsGT)
c.745-4223_745-4222delinsGT (n.745-4223_745-4222delinsGT)
c.152-4223_152-4222delinsGT
n.303_304delinsGT
c.7026_7027delinsGT (p.Asp2342_Asp2343delinsGluTyr)
c.6831_6832delinsGT (p.Asp2277_Asp2278delinsGluTyr)
c.6999_7000delinsGT (p.Asp2333_Asp2334delinsGluTyr)
 ClinVar
16g.89279414G>ACA497372642ANKRD11c.7128C>T (p.Asp2376=)
c.*6931C>T (n.*6931C>T)
c.745-4223C>T (n.745-4223C>T)
c.152-4223C>T
n.303C>T
c.7026C>T (p.Asp2342=)
c.6831C>T (p.Asp2277=)
c.6999C>T (p.Asp2333=)
 ClinVar dbSNP gnomAD v4
16g.89279414G>CCA8241292ANKRD11c.7128C>G (p.Asp2376Glu)
c.*6931C>G (n.*6931C>G)
c.745-4223C>G (n.745-4223C>G)
c.152-4223C>G
n.303C>G
c.7026C>G (p.Asp2342Glu)
c.6831C>G (p.Asp2277Glu)
c.6999C>G (p.Asp2333Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89279414G=CA2241586702ANKRD11c.7128C= (p.Asp2376=)
c.*6931C= (n.*6931C=)
c.745-4223C= (n.745-4223C=)
c.152-4223C=
n.303C=
c.7026C= (p.Asp2342=)
c.6831C= (p.Asp2277=)
c.6999C= (p.Asp2333=)
16g.89279414G>TCA397149268ANKRD11c.7128C>A (p.Asp2376Glu)
c.*6931C>A (n.*6931C>A)
c.745-4223C>A (n.745-4223C>A)
c.152-4223C>A
n.303C>A
c.7026C>A (p.Asp2342Glu)
c.6831C>A (p.Asp2277Glu)
c.6999C>A (p.Asp2333Glu)
16g.89279415T>ACA397149271ANKRD11c.7127A>T (p.Asp2376Val)
c.*6930A>T (n.*6930A>T)
c.745-4224A>T (n.745-4224A>T)
c.152-4224A>T
n.302A>T
c.7025A>T (p.Asp2342Val)
c.6830A>T (p.Asp2277Val)
c.6998A>T (p.Asp2333Val)
16g.89279415T>CCA397149269ANKRD11c.7127A>G (p.Asp2376Gly)
c.*6930A>G (n.*6930A>G)
c.745-4224A>G (n.745-4224A>G)
c.152-4224A>G
n.302A>G
c.7025A>G (p.Asp2342Gly)
c.6830A>G (p.Asp2277Gly)
c.6998A>G (p.Asp2333Gly)
 gnomAD v4
16g.89279415T>GCA397149270ANKRD11c.7127A>C (p.Asp2376Ala)
c.*6930A>C (n.*6930A>C)
c.745-4224A>C (n.745-4224A>C)
c.152-4224A>C
n.302A>C
c.7025A>C (p.Asp2342Ala)
c.6830A>C (p.Asp2277Ala)
c.6998A>C (p.Asp2333Ala)
16g.89279417_89279419dupCA8241293ANKRD11c.7125_7127dup (p.Glu2375_Asp2376insGlu)
c.*6928_*6930dup (n.*6928_*6930dup)
c.745-4226_745-4224dup (n.745-4226_745-4224dup)
c.152-4226_152-4224dup
n.300_302dup
c.7023_7025dup (p.Glu2341_Asp2342insGlu)
c.6828_6830dup (p.Glu2276_Asp2277insGlu)
c.6996_6998dup (p.Glu2332_Asp2333insGlu)
 dbSNP ExAC
16g.89279416C>ACA397149273ANKRD11c.7126G>T (p.Asp2376Tyr)
c.*6929G>T (n.*6929G>T)
c.745-4225G>T (n.745-4225G>T)
c.152-4225G>T
n.301G>T
c.7024G>T (p.Asp2342Tyr)
c.6829G>T (p.Asp2277Tyr)
c.6997G>T (p.Asp2333Tyr)
16g.89279416C>GCA397149272ANKRD11c.7126G>C (p.Asp2376His)
c.*6929G>C (n.*6929G>C)
c.745-4225G>C (n.745-4225G>C)
c.152-4225G>C
n.301G>C
c.7024G>C (p.Asp2342His)
c.6829G>C (p.Asp2277His)
c.6997G>C (p.Asp2333His)
16g.89279416C>TCA397149274ANKRD11c.7126G>A (p.Asp2376Asn)
c.*6929G>A (n.*6929G>A)
c.745-4225G>A (n.745-4225G>A)
c.152-4225G>A
n.301G>A
c.7024G>A (p.Asp2342Asn)
c.6829G>A (p.Asp2277Asn)
c.6997G>A (p.Asp2333Asn)
16g.89279417C>ACA397149275ANKRD11c.7125G>T (p.Glu2375Asp)
c.*6928G>T (n.*6928G>T)
c.745-4226G>T (n.745-4226G>T)
c.152-4226G>T
n.300G>T
c.7023G>T (p.Glu2341Asp)
c.6828G>T (p.Glu2276Asp)
c.6996G>T (p.Glu2332Asp)
16g.89279417C>GCA397149276ANKRD11c.7125G>C (p.Glu2375Asp)
c.*6928G>C (n.*6928G>C)
c.745-4226G>C (n.745-4226G>C)
c.152-4226G>C
n.300G>C
c.7023G>C (p.Glu2341Asp)
c.6828G>C (p.Glu2276Asp)
c.6996G>C (p.Glu2332Asp)
16g.89279417C>TCA497372648ANKRD11c.7125G>A (p.Glu2375=)
c.*6928G>A (n.*6928G>A)
c.745-4226G>A (n.745-4226G>A)
c.152-4226G>A
n.300G>A
c.7023G>A (p.Glu2341=)
c.6828G>A (p.Glu2276=)
c.6996G>A (p.Glu2332=)
16g.89279418T>ACA397149277ANKRD11c.7124A>T (p.Glu2375Val)
c.*6927A>T (n.*6927A>T)
c.745-4227A>T (n.745-4227A>T)
c.152-4227A>T
n.299A>T
c.7022A>T (p.Glu2341Val)
c.6827A>T (p.Glu2276Val)
c.6995A>T (p.Glu2332Val)
16g.89279418T>CCA397149278ANKRD11c.7124A>G (p.Glu2375Gly)
c.*6927A>G (n.*6927A>G)
c.745-4227A>G (n.745-4227A>G)
c.152-4227A>G
n.299A>G
c.7022A>G (p.Glu2341Gly)
c.6827A>G (p.Glu2276Gly)
c.6995A>G (p.Glu2332Gly)
16g.89279418T>GCA397149279ANKRD11c.7124A>C (p.Glu2375Ala)
c.*6927A>C (n.*6927A>C)
c.745-4227A>C (n.745-4227A>C)
c.152-4227A>C
n.299A>C
c.7022A>C (p.Glu2341Ala)
c.6827A>C (p.Glu2276Ala)
c.6995A>C (p.Glu2332Ala)
16g.89279419C>ACA397149280ANKRD11c.7123G>T (p.Glu2375Ter)
c.*6926G>T (n.*6926G>T)
c.745-4228G>T (n.745-4228G>T)
c.152-4228G>T
n.298G>T
c.7021G>T (p.Glu2341Ter)
c.6826G>T (p.Glu2276Ter)
c.6994G>T (p.Glu2332Ter)
16g.89279419C=CA2241586703ANKRD11c.7123G= (p.Glu2375=)
c.*6926G= (n.*6926G=)
c.745-4228G= (n.745-4228G=)
c.152-4228G=
n.298G=
c.7021G= (p.Glu2341=)
c.6826G= (p.Glu2276=)
c.6994G= (p.Glu2332=)
16g.89279419C>GCA397149281ANKRD11c.7123G>C (p.Glu2375Gln)
c.*6926G>C (n.*6926G>C)
c.745-4228G>C (n.745-4228G>C)
c.152-4228G>C
n.298G>C
c.7021G>C (p.Glu2341Gln)
c.6826G>C (p.Glu2276Gln)
c.6994G>C (p.Glu2332Gln)
16g.89279419C>TCA397149282ANKRD11c.7123G>A (p.Glu2375Lys)
c.*6926G>A (n.*6926G>A)
c.745-4228G>A (n.745-4228G>A)
c.152-4228G>A
n.298G>A
c.7021G>A (p.Glu2341Lys)
c.6826G>A (p.Glu2276Lys)
c.6994G>A (p.Glu2332Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.89279420G>ACA497372654ANKRD11c.7122C>T (p.Ser2374=)
c.*6925C>T (n.*6925C>T)
c.745-4229C>T (n.745-4229C>T)
c.152-4229C>T
n.297C>T
c.7020C>T (p.Ser2340=)
c.6825C>T (p.Ser2275=)
c.6993C>T (p.Ser2331=)
 dbSNP gnomAD v4
16g.89279420G>CCA497372656ANKRD11c.7122C>G (p.Ser2374=)
c.*6925C>G (n.*6925C>G)
c.745-4229C>G (n.745-4229C>G)
c.152-4229C>G
n.297C>G
c.7020C>G (p.Ser2340=)
c.6825C>G (p.Ser2275=)
c.6993C>G (p.Ser2331=)
 gnomAD v4
16g.89279420G=CA2241586704ANKRD11c.7122C= (p.Ser2374=)
c.*6925C= (n.*6925C=)
c.745-4229C= (n.745-4229C=)
c.152-4229C=
n.297C=
c.7020C= (p.Ser2340=)
c.6825C= (p.Ser2275=)
c.6993C= (p.Ser2331=)
16g.89279420G>TCA497372657ANKRD11c.7122C>A (p.Ser2374=)
c.*6925C>A (n.*6925C>A)
c.745-4229C>A (n.745-4229C>A)
c.152-4229C>A
n.297C>A
c.7020C>A (p.Ser2340=)
c.6825C>A (p.Ser2275=)
c.6993C>A (p.Ser2331=)
 gnomAD v4
16g.89279421G>ACA397149283ANKRD11c.7121C>T (p.Ser2374Phe)
c.*6924C>T (n.*6924C>T)
c.745-4230C>T (n.745-4230C>T)
c.152-4230C>T
n.296C>T
c.7019C>T (p.Ser2340Phe)
c.6824C>T (p.Ser2275Phe)
c.6992C>T (p.Ser2331Phe)
16g.89279421G>CCA397149284ANKRD11c.7121C>G (p.Ser2374Cys)
c.*6924C>G (n.*6924C>G)
c.745-4230C>G (n.745-4230C>G)
c.152-4230C>G
n.296C>G
c.7019C>G (p.Ser2340Cys)
c.6824C>G (p.Ser2275Cys)
c.6992C>G (p.Ser2331Cys)
 dbSNP
16g.89279421G=CA2241586705ANKRD11c.7121C= (p.Ser2374=)
c.*6924C= (n.*6924C=)
c.745-4230C= (n.745-4230C=)
c.152-4230C=
n.296C=
c.7019C= (p.Ser2340=)
c.6824C= (p.Ser2275=)
c.6992C= (p.Ser2331=)
16g.89279421G>TCA397149285ANKRD11c.7121C>A (p.Ser2374Tyr)
c.*6924C>A (n.*6924C>A)
c.745-4230C>A (n.745-4230C>A)
c.152-4230C>A
n.296C>A
c.7019C>A (p.Ser2340Tyr)
c.6824C>A (p.Ser2275Tyr)
c.6992C>A (p.Ser2331Tyr)
16g.89279422A>CCA397149286ANKRD11c.7120T>G (p.Ser2374Ala)
c.*6923T>G (n.*6923T>G)
c.745-4231T>G (n.745-4231T>G)
c.152-4231T>G
n.295T>G
c.7018T>G (p.Ser2340Ala)
c.6823T>G (p.Ser2275Ala)
c.6991T>G (p.Ser2331Ala)
16g.89279422A>GCA397149287ANKRD11c.7120T>C (p.Ser2374Pro)
c.*6923T>C (n.*6923T>C)
c.745-4231T>C (n.745-4231T>C)
c.152-4231T>C
n.295T>C
c.7018T>C (p.Ser2340Pro)
c.6823T>C (p.Ser2275Pro)
c.6991T>C (p.Ser2331Pro)
16g.89279422A>TCA397149288ANKRD11c.7120T>A (p.Ser2374Thr)
c.*6923T>A (n.*6923T>A)
c.745-4231T>A (n.745-4231T>A)
c.152-4231T>A
n.295T>A
c.7018T>A (p.Ser2340Thr)
c.6823T>A (p.Ser2275Thr)
c.6991T>A (p.Ser2331Thr)
16g.89279423G>ACA497372664ANKRD11c.7119C>T (p.Gly2373=)
c.*6922C>T (n.*6922C>T)
c.745-4232C>T (n.745-4232C>T)
c.152-4232C>T
n.294C>T
c.7017C>T (p.Gly2339=)
c.6822C>T (p.Gly2274=)
c.6990C>T (p.Gly2330=)
 dbSNP gnomAD v4
16g.89279423G>CCA497372659ANKRD11c.7119C>G (p.Gly2373=)
c.*6922C>G (n.*6922C>G)
c.745-4232C>G (n.745-4232C>G)
c.152-4232C>G
n.294C>G
c.7017C>G (p.Gly2339=)
c.6822C>G (p.Gly2274=)
c.6990C>G (p.Gly2330=)
16g.89279423G=CA2241586706ANKRD11c.7119C= (p.Gly2373=)
c.*6922C= (n.*6922C=)
c.745-4232C= (n.745-4232C=)
c.152-4232C=
n.294C=
c.7017C= (p.Gly2339=)
c.6822C= (p.Gly2274=)
c.6990C= (p.Gly2330=)
16g.89279423G>TCA497372661ANKRD11c.7119C>A (p.Gly2373=)
c.*6922C>A (n.*6922C>A)
c.745-4232C>A (n.745-4232C>A)
c.152-4232C>A
n.294C>A
c.7017C>A (p.Gly2339=)
c.6822C>A (p.Gly2274=)
c.6990C>A (p.Gly2330=)
 gnomAD v4
16g.89279424C>ACA397149291ANKRD11c.7118G>T (p.Gly2373Val)
c.*6921G>T (n.*6921G>T)
c.745-4233G>T (n.745-4233G>T)
c.152-4233G>T
n.293G>T
c.7016G>T (p.Gly2339Val)
c.6821G>T (p.Gly2274Val)
c.6989G>T (p.Gly2330Val)
 dbSNP gnomAD v2 gnomAD v4
16g.89279424C=CA2241586707ANKRD11c.7118G= (p.Gly2373=)
c.*6921G= (n.*6921G=)
c.745-4233G= (n.745-4233G=)
c.152-4233G=
n.293G=
c.7016G= (p.Gly2339=)
c.6821G= (p.Gly2274=)
c.6989G= (p.Gly2330=)
16g.89279424C>GCA397149290ANKRD11c.7118G>C (p.Gly2373Ala)
c.*6921G>C (n.*6921G>C)
c.745-4233G>C (n.745-4233G>C)
c.152-4233G>C
n.293G>C
c.7016G>C (p.Gly2339Ala)
c.6821G>C (p.Gly2274Ala)
c.6989G>C (p.Gly2330Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.89279424C>TCA397149289ANKRD11c.7118G>A (p.Gly2373Asp)
c.*6921G>A (n.*6921G>A)
c.745-4233G>A (n.745-4233G>A)
c.152-4233G>A
n.293G>A
c.7016G>A (p.Gly2339Asp)
c.6821G>A (p.Gly2274Asp)
c.6989G>A (p.Gly2330Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279425C>ACA397149292ANKRD11c.7117G>T (p.Gly2373Cys)
c.*6920G>T (n.*6920G>T)
c.745-4234G>T (n.745-4234G>T)
c.152-4234G>T
n.292G>T
c.7015G>T (p.Gly2339Cys)
c.6820G>T (p.Gly2274Cys)
c.6988G>T (p.Gly2330Cys)
 gnomAD v4
16g.89279425C=CA2241586708ANKRD11c.7117G= (p.Gly2373=)
c.*6920G= (n.*6920G=)
c.745-4234G= (n.745-4234G=)
c.152-4234G=
n.292G=
c.7015G= (p.Gly2339=)
c.6820G= (p.Gly2274=)
c.6988G= (p.Gly2330=)
16g.89279425C>GCA397149293ANKRD11c.7117G>C (p.Gly2373Arg)
c.*6920G>C (n.*6920G>C)
c.745-4234G>C (n.745-4234G>C)
c.152-4234G>C
n.292G>C
c.7015G>C (p.Gly2339Arg)
c.6820G>C (p.Gly2274Arg)
c.6988G>C (p.Gly2330Arg)
16g.89279425C>TCA397149294ANKRD11c.7117G>A (p.Gly2373Ser)
c.*6920G>A (n.*6920G>A)
c.745-4234G>A (n.745-4234G>A)
c.152-4234G>A
n.292G>A
c.7015G>A (p.Gly2339Ser)
c.6820G>A (p.Gly2274Ser)
c.6988G>A (p.Gly2330Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89279426G>ACA497372668ANKRD11c.7116C>T (p.Arg2372=)
c.*6919C>T (n.*6919C>T)
c.745-4235C>T (n.745-4235C>T)
c.152-4235C>T
n.291C>T
c.7014C>T (p.Arg2338=)
c.6819C>T (p.Arg2273=)
c.6987C>T (p.Arg2329=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279426G>CCA286509498ANKRD11c.7116C>G (p.Arg2372=)
c.*6919C>G (n.*6919C>G)
c.745-4235C>G (n.745-4235C>G)
c.152-4235C>G
n.291C>G
c.7014C>G (p.Arg2338=)
c.6819C>G (p.Arg2273=)
c.6987C>G (p.Arg2329=)
 dbSNP
16g.89279426G=CA2241586709ANKRD11c.7116C= (p.Arg2372=)
c.*6919C= (n.*6919C=)
c.745-4235C= (n.745-4235C=)
c.152-4235C=
n.291C=
c.7014C= (p.Arg2338=)
c.6819C= (p.Arg2273=)
c.6987C= (p.Arg2329=)
16g.89279426G>TCA497372669ANKRD11c.7116C>A (p.Arg2372=)
c.*6919C>A (n.*6919C>A)
c.745-4235C>A (n.745-4235C>A)
c.152-4235C>A
n.291C>A
c.7014C>A (p.Arg2338=)
c.6819C>A (p.Arg2273=)
c.6987C>A (p.Arg2329=)
 dbSNP gnomAD v2 gnomAD v4
16g.89279427C>ACA397149295ANKRD11c.7115G>T (p.Arg2372Leu)
c.*6918G>T (n.*6918G>T)
c.745-4236G>T (n.745-4236G>T)
c.152-4236G>T
n.290G>T
c.7013G>T (p.Arg2338Leu)
c.6818G>T (p.Arg2273Leu)
c.6986G>T (p.Arg2329Leu)
16g.89279427C=CA2241586710ANKRD11c.7115G= (p.Arg2372=)
c.*6918G= (n.*6918G=)
c.745-4236G= (n.745-4236G=)
c.152-4236G=
n.290G=
c.7013G= (p.Arg2338=)
c.6818G= (p.Arg2273=)
c.6986G= (p.Arg2329=)
16g.89279427C>GCA286509503ANKRD11c.7115G>C (p.Arg2372Pro)
c.*6918G>C (n.*6918G>C)
c.745-4236G>C (n.745-4236G>C)
c.152-4236G>C
n.290G>C
c.7013G>C (p.Arg2338Pro)
c.6818G>C (p.Arg2273Pro)
c.6986G>C (p.Arg2329Pro)
 dbSNP
16g.89279427C>TCA8241294ANKRD11c.7115G>A (p.Arg2372His)
c.*6918G>A (n.*6918G>A)
c.745-4236G>A (n.745-4236G>A)
c.152-4236G>A
n.290G>A
c.7013G>A (p.Arg2338His)
c.6818G>A (p.Arg2273His)
c.6986G>A (p.Arg2329His)
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.89279428G>ACA397149296ANKRD11c.7114C>T (p.Arg2372Cys)
c.*6917C>T (n.*6917C>T)
c.745-4237C>T (n.745-4237C>T)
c.152-4237C>T
n.289C>T
c.7012C>T (p.Arg2338Cys)
c.6817C>T (p.Arg2273Cys)
c.6985C>T (p.Arg2329Cys)
 ClinVar dbSNP gnomAD v4
16g.89279428G>CCA397149297ANKRD11c.7114C>G (p.Arg2372Gly)
c.*6917C>G (n.*6917C>G)
c.745-4237C>G (n.745-4237C>G)
c.152-4237C>G
n.289C>G
c.7012C>G (p.Arg2338Gly)
c.6817C>G (p.Arg2273Gly)
c.6985C>G (p.Arg2329Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89279428G=CA2241586711ANKRD11c.7114C= (p.Arg2372=)
c.*6917C= (n.*6917C=)
c.745-4237C= (n.745-4237C=)
c.152-4237C=
n.289C=
c.7012C= (p.Arg2338=)
c.6817C= (p.Arg2273=)
c.6985C= (p.Arg2329=)
16g.89279428G>TCA397149298ANKRD11c.7114C>A (p.Arg2372Ser)
c.*6917C>A (n.*6917C>A)
c.745-4237C>A (n.745-4237C>A)
c.152-4237C>A
n.289C>A
c.7012C>A (p.Arg2338Ser)
c.6817C>A (p.Arg2273Ser)
c.6985C>A (p.Arg2329Ser)
16g.89279430dupCA915949407ANKRD11c.7114dup (p.Arg2372ProfsTer?)
c.*6917dup (n.*6917dup)
c.745-4237dup (n.745-4237dup)
c.152-4237dup
n.289dup
c.7012dup (p.Arg2338ProfsTer?)
c.6817dup (p.Arg2273ProfsTer?)
c.6985dup (p.Arg2329ProfsTer?)
 ClinVar dbSNP
16g.89279429G>ACA497372675ANKRD11c.7113C>T (p.Ala2371=)
c.*6916C>T (n.*6916C>T)
c.745-4238C>T (n.745-4238C>T)
c.152-4238C>T
n.288C>T
c.7011C>T (p.Ala2337=)
c.6816C>T (p.Ala2272=)
c.6984C>T (p.Ala2328=)
 dbSNP gnomAD v4
16g.89279429G>CCA497372677ANKRD11c.7113C>G (p.Ala2371=)
c.*6916C>G (n.*6916C>G)
c.745-4238C>G (n.745-4238C>G)
c.152-4238C>G
n.288C>G
c.7011C>G (p.Ala2337=)
c.6816C>G (p.Ala2272=)
c.6984C>G (p.Ala2328=)
16g.89279429G=CA2241586712ANKRD11c.7113C= (p.Ala2371=)
c.*6916C= (n.*6916C=)
c.745-4238C= (n.745-4238C=)
c.152-4238C=
n.288C=
c.7011C= (p.Ala2337=)
c.6816C= (p.Ala2272=)
c.6984C= (p.Ala2328=)
16g.89279429G>TCA497372676ANKRD11c.7113C>A (p.Ala2371=)
c.*6916C>A (n.*6916C>A)
c.745-4238C>A (n.745-4238C>A)
c.152-4238C>A
n.288C>A
c.7011C>A (p.Ala2337=)
c.6816C>A (p.Ala2272=)
c.6984C>A (p.Ala2328=)
16g.89279430G>ACA397149300ANKRD11c.7112C>T (p.Ala2371Val)
c.*6915C>T (n.*6915C>T)
c.745-4239C>T (n.745-4239C>T)
c.152-4239C>T
n.287C>T
c.7010C>T (p.Ala2337Val)
c.6815C>T (p.Ala2272Val)
c.6983C>T (p.Ala2328Val)
 dbSNP gnomAD v3 gnomAD v4
16g.89279430G>CCA397149301ANKRD11c.7112C>G (p.Ala2371Gly)
c.*6915C>G (n.*6915C>G)
c.745-4239C>G (n.745-4239C>G)
c.152-4239C>G
n.287C>G
c.7010C>G (p.Ala2337Gly)
c.6815C>G (p.Ala2272Gly)
c.6983C>G (p.Ala2328Gly)
 gnomAD v4
16g.89279430G=CA2241586713ANKRD11c.7112C= (p.Ala2371=)
c.*6915C= (n.*6915C=)
c.745-4239C= (n.745-4239C=)
c.152-4239C=
n.287C=
c.7010C= (p.Ala2337=)
c.6815C= (p.Ala2272=)
c.6983C= (p.Ala2328=)
16g.89279430G>TCA397149303ANKRD11c.7112C>A (p.Ala2371Asp)
c.*6915C>A (n.*6915C>A)
c.745-4239C>A (n.745-4239C>A)
c.152-4239C>A
n.287C>A
c.7010C>A (p.Ala2337Asp)
c.6815C>A (p.Ala2272Asp)
c.6983C>A (p.Ala2328Asp)

Number of alleles fetched