Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89280144A>CCA397151228ANKRD11c.6398T>G (p.Leu2133Arg)
c.*6201T>G (n.*6201T>G)
c.745-4953T>G (n.745-4953T>G)
c.152-4953T>G
c.6296T>G (p.Leu2099Arg)
c.6101T>G (p.Leu2034Arg)
c.6269T>G (p.Leu2090Arg)
16g.89280144A>GCA397151230ANKRD11c.6398T>C (p.Leu2133Pro)
c.*6201T>C (n.*6201T>C)
c.745-4953T>C (n.745-4953T>C)
c.152-4953T>C
c.6296T>C (p.Leu2099Pro)
c.6101T>C (p.Leu2034Pro)
c.6269T>C (p.Leu2090Pro)
 gnomAD v4
16g.89280144A>TCA397151229ANKRD11c.6398T>A (p.Leu2133Gln)
c.*6201T>A (n.*6201T>A)
c.745-4953T>A (n.745-4953T>A)
c.152-4953T>A
c.6296T>A (p.Leu2099Gln)
c.6101T>A (p.Leu2034Gln)
c.6269T>A (p.Leu2090Gln)
16g.89280145G>ACA497373311ANKRD11c.6397C>T (p.Leu2133=)
c.*6200C>T (n.*6200C>T)
c.745-4954C>T (n.745-4954C>T)
c.152-4954C>T
c.6295C>T (p.Leu2099=)
c.6100C>T (p.Leu2034=)
c.6268C>T (p.Leu2090=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280145G>CCA397151231ANKRD11c.6397C>G (p.Leu2133Val)
c.*6200C>G (n.*6200C>G)
c.745-4954C>G (n.745-4954C>G)
c.152-4954C>G
c.6295C>G (p.Leu2099Val)
c.6100C>G (p.Leu2034Val)
c.6268C>G (p.Leu2090Val)
 dbSNP
16g.89280145G=CA2241587197ANKRD11c.6397C= (p.Leu2133=)
c.*6200C= (n.*6200C=)
c.745-4954C= (n.745-4954C=)
c.152-4954C=
c.6295C= (p.Leu2099=)
c.6100C= (p.Leu2034=)
c.6268C= (p.Leu2090=)
16g.89280145G>TCA397151232ANKRD11c.6397C>A (p.Leu2133Met)
c.*6200C>A (n.*6200C>A)
c.745-4954C>A (n.745-4954C>A)
c.152-4954C>A
c.6295C>A (p.Leu2099Met)
c.6100C>A (p.Leu2034Met)
c.6268C>A (p.Leu2090Met)
16g.89280146G>ACA8241463ANKRD11c.6396C>T (p.Asp2132=)
c.*6199C>T (n.*6199C>T)
c.745-4955C>T (n.745-4955C>T)
c.152-4955C>T
c.6294C>T (p.Asp2098=)
c.6099C>T (p.Asp2033=)
c.6267C>T (p.Asp2089=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280146G>CCA286510282ANKRD11c.6396C>G (p.Asp2132Glu)
c.*6199C>G (n.*6199C>G)
c.745-4955C>G (n.745-4955C>G)
c.152-4955C>G
c.6294C>G (p.Asp2098Glu)
c.6099C>G (p.Asp2033Glu)
c.6267C>G (p.Asp2089Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280146G=CA2241587198ANKRD11c.6396C= (p.Asp2132=)
c.*6199C= (n.*6199C=)
c.745-4955C= (n.745-4955C=)
c.152-4955C=
c.6294C= (p.Asp2098=)
c.6099C= (p.Asp2033=)
c.6267C= (p.Asp2089=)
16g.89280146G>TCA397151233ANKRD11c.6396C>A (p.Asp2132Glu)
c.*6199C>A (n.*6199C>A)
c.745-4955C>A (n.745-4955C>A)
c.152-4955C>A
c.6294C>A (p.Asp2098Glu)
c.6099C>A (p.Asp2033Glu)
c.6267C>A (p.Asp2089Glu)
 dbSNP
16g.89280150_89280179delCA2634942354ANKRD11c.6367_6396del (p.Ala2123_Asp2132del)
c.*6170_*6199del (n.*6170_*6199del)
c.745-4984_745-4955del (n.745-4984_745-4955del)
c.152-4984_152-4955del
c.6265_6294del (p.Ala2089_Asp2098del)
c.6070_6099del (p.Ala2024_Asp2033del)
c.6238_6267del (p.Ala2080_Asp2089del)
 gnomAD v4
16g.89280147T>ACA286510283ANKRD11c.6395A>T (p.Asp2132Val)
c.*6198A>T (n.*6198A>T)
c.745-4956A>T (n.745-4956A>T)
c.152-4956A>T
c.6293A>T (p.Asp2098Val)
c.6098A>T (p.Asp2033Val)
c.6266A>T (p.Asp2089Val)
 dbSNP gnomAD v4
16g.89280147T>CCA397151234ANKRD11c.6395A>G (p.Asp2132Gly)
c.*6198A>G (n.*6198A>G)
c.745-4956A>G (n.745-4956A>G)
c.152-4956A>G
c.6293A>G (p.Asp2098Gly)
c.6098A>G (p.Asp2033Gly)
c.6266A>G (p.Asp2089Gly)
16g.89280147T>GCA397151235ANKRD11c.6395A>C (p.Asp2132Ala)
c.*6198A>C (n.*6198A>C)
c.745-4956A>C (n.745-4956A>C)
c.152-4956A>C
c.6293A>C (p.Asp2098Ala)
c.6098A>C (p.Asp2033Ala)
c.6266A>C (p.Asp2089Ala)
16g.89280147T=CA2241587199ANKRD11c.6395A= (p.Asp2132=)
c.*6198A= (n.*6198A=)
c.745-4956A= (n.745-4956A=)
c.152-4956A=
c.6293A= (p.Asp2098=)
c.6098A= (p.Asp2033=)
c.6266A= (p.Asp2089=)
16g.89280147_89280148delinsATCA2573054295ANKRD11c.6394_6395delinsAT (p.Asp2132Ile)
c.*6197_*6198delinsAT (n.*6197_*6198delinsAT)
c.745-4957_745-4956delinsAT (n.745-4957_745-4956delinsAT)
c.152-4957_152-4956delinsAT
c.6292_6293delinsAT (p.Asp2098Ile)
c.6097_6098delinsAT (p.Asp2033Ile)
c.6265_6266delinsAT (p.Asp2089Ile)
 ClinVar dbSNP
16g.89280148C>ACA397151236ANKRD11c.6394G>T (p.Asp2132Tyr)
c.*6197G>T (n.*6197G>T)
c.745-4957G>T (n.745-4957G>T)
c.152-4957G>T
c.6292G>T (p.Asp2098Tyr)
c.6097G>T (p.Asp2033Tyr)
c.6265G>T (p.Asp2089Tyr)
16g.89280148C=CA2241587200ANKRD11c.6394G= (p.Asp2132=)
c.*6197G= (n.*6197G=)
c.745-4957G= (n.745-4957G=)
c.152-4957G=
c.6292G= (p.Asp2098=)
c.6097G= (p.Asp2033=)
c.6265G= (p.Asp2089=)
16g.89280148C>GCA397151237ANKRD11c.6394G>C (p.Asp2132His)
c.*6197G>C (n.*6197G>C)
c.745-4957G>C (n.745-4957G>C)
c.152-4957G>C
c.6292G>C (p.Asp2098His)
c.6097G>C (p.Asp2033His)
c.6265G>C (p.Asp2089His)
16g.89280148C>TCA286510285ANKRD11c.6394G>A (p.Asp2132Asn)
c.*6197G>A (n.*6197G>A)
c.745-4957G>A (n.745-4957G>A)
c.152-4957G>A
c.6292G>A (p.Asp2098Asn)
c.6097G>A (p.Asp2033Asn)
c.6265G>A (p.Asp2089Asn)
 dbSNP gnomAD v4
16g.89280149C>ACA8241464ANKRD11c.6393G>T (p.Leu2131=)
c.*6196G>T (n.*6196G>T)
c.745-4958G>T (n.745-4958G>T)
c.152-4958G>T
c.6291G>T (p.Leu2097=)
c.6096G>T (p.Leu2032=)
c.6264G>T (p.Leu2088=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280149C=CA2241587201ANKRD11c.6393G= (p.Leu2131=)
c.*6196G= (n.*6196G=)
c.745-4958G= (n.745-4958G=)
c.152-4958G=
c.6291G= (p.Leu2097=)
c.6096G= (p.Leu2032=)
c.6264G= (p.Leu2088=)
16g.89280149C>GCA497373321ANKRD11c.6393G>C (p.Leu2131=)
c.*6196G>C (n.*6196G>C)
c.745-4958G>C (n.745-4958G>C)
c.152-4958G>C
c.6291G>C (p.Leu2097=)
c.6096G>C (p.Leu2032=)
c.6264G>C (p.Leu2088=)
 ClinVar dbSNP
16g.89280149C>TCA497373318ANKRD11c.6393G>A (p.Leu2131=)
c.*6196G>A (n.*6196G>A)
c.745-4958G>A (n.745-4958G>A)
c.152-4958G>A
c.6291G>A (p.Leu2097=)
c.6096G>A (p.Leu2032=)
c.6264G>A (p.Leu2088=)
 dbSNP
16g.89280150A=CA2241587202ANKRD11c.6392T= (p.Leu2131=)
c.*6195T= (n.*6195T=)
c.745-4959T= (n.745-4959T=)
c.152-4959T=
c.6290T= (p.Leu2097=)
c.6095T= (p.Leu2032=)
c.6263T= (p.Leu2088=)
16g.89280150A>CCA397151238ANKRD11c.6392T>G (p.Leu2131Arg)
c.*6195T>G (n.*6195T>G)
c.745-4959T>G (n.745-4959T>G)
c.152-4959T>G
c.6290T>G (p.Leu2097Arg)
c.6095T>G (p.Leu2032Arg)
c.6263T>G (p.Leu2088Arg)
16g.89280150A>GCA397151240ANKRD11c.6392T>C (p.Leu2131Pro)
c.*6195T>C (n.*6195T>C)
c.745-4959T>C (n.745-4959T>C)
c.152-4959T>C
c.6290T>C (p.Leu2097Pro)
c.6095T>C (p.Leu2032Pro)
c.6263T>C (p.Leu2088Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280150A>TCA397151239ANKRD11c.6392T>A (p.Leu2131Gln)
c.*6195T>A (n.*6195T>A)
c.745-4959T>A (n.745-4959T>A)
c.152-4959T>A
c.6290T>A (p.Leu2097Gln)
c.6095T>A (p.Leu2032Gln)
c.6263T>A (p.Leu2088Gln)
16g.89280151G>ACA8241465ANKRD11c.6391C>T (p.Leu2131=)
c.*6194C>T (n.*6194C>T)
c.745-4960C>T (n.745-4960C>T)
c.152-4960C>T
c.6289C>T (p.Leu2097=)
c.6094C>T (p.Leu2032=)
c.6262C>T (p.Leu2088=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280151G>CCA397151241ANKRD11c.6391C>G (p.Leu2131Val)
c.*6194C>G (n.*6194C>G)
c.745-4960C>G (n.745-4960C>G)
c.152-4960C>G
c.6289C>G (p.Leu2097Val)
c.6094C>G (p.Leu2032Val)
c.6262C>G (p.Leu2088Val)
16g.89280151G=CA2241587203ANKRD11c.6391C= (p.Leu2131=)
c.*6194C= (n.*6194C=)
c.745-4960C= (n.745-4960C=)
c.152-4960C=
c.6289C= (p.Leu2097=)
c.6094C= (p.Leu2032=)
c.6262C= (p.Leu2088=)
16g.89280151G>TCA397151242ANKRD11c.6391C>A (p.Leu2131Met)
c.*6194C>A (n.*6194C>A)
c.745-4960C>A (n.745-4960C>A)
c.152-4960C>A
c.6289C>A (p.Leu2097Met)
c.6094C>A (p.Leu2032Met)
c.6262C>A (p.Leu2088Met)
16g.89280152G>ACA8241466ANKRD11c.6390C>T (p.Asp2130=)
c.*6193C>T (n.*6193C>T)
c.745-4961C>T (n.745-4961C>T)
c.152-4961C>T
c.6288C>T (p.Asp2096=)
c.6093C>T (p.Asp2031=)
c.6261C>T (p.Asp2087=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280152G>CCA397151243ANKRD11c.6390C>G (p.Asp2130Glu)
c.*6193C>G (n.*6193C>G)
c.745-4961C>G (n.745-4961C>G)
c.152-4961C>G
c.6288C>G (p.Asp2096Glu)
c.6093C>G (p.Asp2031Glu)
c.6261C>G (p.Asp2087Glu)
16g.89280152G=CA2241587204ANKRD11c.6390C= (p.Asp2130=)
c.*6193C= (n.*6193C=)
c.745-4961C= (n.745-4961C=)
c.152-4961C=
c.6288C= (p.Asp2096=)
c.6093C= (p.Asp2031=)
c.6261C= (p.Asp2087=)
16g.89280152G>TCA397151244ANKRD11c.6390C>A (p.Asp2130Glu)
c.*6193C>A (n.*6193C>A)
c.745-4961C>A (n.745-4961C>A)
c.152-4961C>A
c.6288C>A (p.Asp2096Glu)
c.6093C>A (p.Asp2031Glu)
c.6261C>A (p.Asp2087Glu)
16g.89280153T>ACA397151247ANKRD11c.6389A>T (p.Asp2130Val)
c.*6192A>T (n.*6192A>T)
c.745-4962A>T (n.745-4962A>T)
c.152-4962A>T
c.6287A>T (p.Asp2096Val)
c.6092A>T (p.Asp2031Val)
c.6260A>T (p.Asp2087Val)
16g.89280153T>CCA397151245ANKRD11c.6389A>G (p.Asp2130Gly)
c.*6192A>G (n.*6192A>G)
c.745-4962A>G (n.745-4962A>G)
c.152-4962A>G
c.6287A>G (p.Asp2096Gly)
c.6092A>G (p.Asp2031Gly)
c.6260A>G (p.Asp2087Gly)
16g.89280153T>GCA397151246ANKRD11c.6389A>C (p.Asp2130Ala)
c.*6192A>C (n.*6192A>C)
c.745-4962A>C (n.745-4962A>C)
c.152-4962A>C
c.6287A>C (p.Asp2096Ala)
c.6092A>C (p.Asp2031Ala)
c.6260A>C (p.Asp2087Ala)
16g.89280154C>ACA397151248ANKRD11c.6388G>T (p.Asp2130Tyr)
c.*6191G>T (n.*6191G>T)
c.745-4963G>T (n.745-4963G>T)
c.152-4963G>T
c.6286G>T (p.Asp2096Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6259G>T (p.Asp2087Tyr)
16g.89280154C=CA2241587205ANKRD11c.6388G= (p.Asp2130=)
c.*6191G= (n.*6191G=)
c.745-4963G= (n.745-4963G=)
c.152-4963G=
c.6286G= (p.Asp2096=)
c.6091G= (p.Asp2031=)
c.6259G= (p.Asp2087=)
16g.89280154C>GCA397151249ANKRD11c.6388G>C (p.Asp2130His)
c.*6191G>C (n.*6191G>C)
c.745-4963G>C (n.745-4963G>C)
c.152-4963G>C
c.6286G>C (p.Asp2096His)
c.6091G>C (p.Asp2031His)
c.6259G>C (p.Asp2087His)
16g.89280154C>TCA8241467ANKRD11c.6388G>A (p.Asp2130Asn)
c.*6191G>A (n.*6191G>A)
c.745-4963G>A (n.745-4963G>A)
c.152-4963G>A
c.6286G>A (p.Asp2096Asn)
c.6091G>A (p.Asp2031Asn)
c.6259G>A (p.Asp2087Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280154dupCA2843238168ANKRD11c.6388dup (p.Asp2130GlyfsTer17)
c.*6191dup (n.*6191dup)
c.745-4963dup (n.745-4963dup)
c.152-4963dup
c.6286dup (p.Asp2096GlyfsTer17)
c.6091dup (p.Asp2031GlyfsTer17)
c.6259dup (p.Asp2087GlyfsTer17)
16g.89280155G>ACA497373327ANKRD11c.6387C>T (p.Asp2129=)
c.*6190C>T (n.*6190C>T)
c.745-4964C>T (n.745-4964C>T)
c.152-4964C>T
c.6285C>T (p.Asp2095=)
c.6090C>T (p.Asp2030=)
c.6258C>T (p.Asp2086=)
 gnomAD v4
16g.89280155G>CCA397151250ANKRD11c.6387C>G (p.Asp2129Glu)
c.*6190C>G (n.*6190C>G)
c.745-4964C>G (n.745-4964C>G)
c.152-4964C>G
c.6285C>G (p.Asp2095Glu)
c.6090C>G (p.Asp2030Glu)
c.6258C>G (p.Asp2086Glu)
16g.89280155G=CA2241587206ANKRD11c.6387C= (p.Asp2129=)
c.*6190C= (n.*6190C=)
c.745-4964C= (n.745-4964C=)
c.152-4964C=
c.6285C= (p.Asp2095=)
c.6090C= (p.Asp2030=)
c.6258C= (p.Asp2086=)
16g.89280155G>TCA397151251ANKRD11c.6387C>A (p.Asp2129Glu)
c.*6190C>A (n.*6190C>A)
c.745-4964C>A (n.745-4964C>A)
c.152-4964C>A
c.6285C>A (p.Asp2095Glu)
c.6090C>A (p.Asp2030Glu)
c.6258C>A (p.Asp2086Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280156T>ACA397151252ANKRD11c.6386A>T (p.Asp2129Val)
c.*6189A>T (n.*6189A>T)
c.745-4965A>T (n.745-4965A>T)
c.152-4965A>T
c.6284A>T (p.Asp2095Val)
c.6089A>T (p.Asp2030Val)
c.6257A>T (p.Asp2086Val)
 gnomAD v4
16g.89280156T>CCA8241468ANKRD11c.6386A>G (p.Asp2129Gly)
c.*6189A>G (n.*6189A>G)
c.745-4965A>G (n.745-4965A>G)
c.152-4965A>G
c.6284A>G (p.Asp2095Gly)
c.6089A>G (p.Asp2030Gly)
c.6257A>G (p.Asp2086Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280156T>GCA397151253ANKRD11c.6386A>C (p.Asp2129Ala)
c.*6189A>C (n.*6189A>C)
c.745-4965A>C (n.745-4965A>C)
c.152-4965A>C
c.6284A>C (p.Asp2095Ala)
c.6089A>C (p.Asp2030Ala)
c.6257A>C (p.Asp2086Ala)
16g.89280156T=CA2241587207ANKRD11c.6386A= (p.Asp2129=)
c.*6189A= (n.*6189A=)
c.745-4965A= (n.745-4965A=)
c.152-4965A=
c.6284A= (p.Asp2095=)
c.6089A= (p.Asp2030=)
c.6257A= (p.Asp2086=)
16g.89280157C>ACA397151254ANKRD11c.6385G>T (p.Asp2129Tyr)
c.*6188G>T (n.*6188G>T)
c.745-4966G>T (n.745-4966G>T)
c.152-4966G>T
c.6283G>T (p.Asp2095Tyr)
c.6088G>T (p.Asp2030Tyr)
c.6256G>T (p.Asp2086Tyr)
16g.89280157C>GCA397151255ANKRD11c.6385G>C (p.Asp2129His)
c.*6188G>C (n.*6188G>C)
c.745-4966G>C (n.745-4966G>C)
c.152-4966G>C
c.6283G>C (p.Asp2095His)
c.6088G>C (p.Asp2030His)
c.6256G>C (p.Asp2086His)
16g.89280157C>TCA397151256ANKRD11c.6385G>A (p.Asp2129Asn)
c.*6188G>A (n.*6188G>A)
c.745-4966G>A (n.745-4966G>A)
c.152-4966G>A
c.6283G>A (p.Asp2095Asn)
c.6088G>A (p.Asp2030Asn)
c.6256G>A (p.Asp2086Asn)
16g.89280158C>ACA397151257ANKRD11c.6384G>T (p.Glu2128Asp)
c.*6187G>T (n.*6187G>T)
c.745-4967G>T (n.745-4967G>T)
c.152-4967G>T
c.6282G>T (p.Glu2094Asp)
c.6087G>T (p.Glu2029Asp)
c.6255G>T (p.Glu2085Asp)
16g.89280158C=CA2241587208ANKRD11c.6384G= (p.Glu2128=)
c.*6187G= (n.*6187G=)
c.745-4967G= (n.745-4967G=)
c.152-4967G=
c.6282G= (p.Glu2094=)
c.6087G= (p.Glu2029=)
c.6255G= (p.Glu2085=)
16g.89280158C>GCA397151258ANKRD11c.6384G>C (p.Glu2128Asp)
c.*6187G>C (n.*6187G>C)
c.745-4967G>C (n.745-4967G>C)
c.152-4967G>C
c.6282G>C (p.Glu2094Asp)
c.6087G>C (p.Glu2029Asp)
c.6255G>C (p.Glu2085Asp)
16g.89280158C>TCA497373332ANKRD11c.6384G>A (p.Glu2128=)
c.*6187G>A (n.*6187G>A)
c.745-4967G>A (n.745-4967G>A)
c.152-4967G>A
c.6282G>A (p.Glu2094=)
c.6087G>A (p.Glu2029=)
c.6255G>A (p.Glu2085=)
 dbSNP gnomAD v2
16g.89280159T>ACA397151259ANKRD11c.6383A>T (p.Glu2128Val)
c.*6186A>T (n.*6186A>T)
c.745-4968A>T (n.745-4968A>T)
c.152-4968A>T
c.6281A>T (p.Glu2094Val)
c.6086A>T (p.Glu2029Val)
c.6254A>T (p.Glu2085Val)
16g.89280159T>CCA397151260ANKRD11c.6383A>G (p.Glu2128Gly)
c.*6186A>G (n.*6186A>G)
c.745-4968A>G (n.745-4968A>G)
c.152-4968A>G
c.6281A>G (p.Glu2094Gly)
c.6086A>G (p.Glu2029Gly)
c.6254A>G (p.Glu2085Gly)
 gnomAD v4
16g.89280159T>GCA397151261ANKRD11c.6383A>C (p.Glu2128Ala)
c.*6186A>C (n.*6186A>C)
c.745-4968A>C (n.745-4968A>C)
c.152-4968A>C
c.6281A>C (p.Glu2094Ala)
c.6086A>C (p.Glu2029Ala)
c.6254A>C (p.Glu2085Ala)
16g.89280160C>ACA397151262ANKRD11c.6382G>T (p.Glu2128Ter)
c.*6185G>T (n.*6185G>T)
c.745-4969G>T (n.745-4969G>T)
c.152-4969G>T
c.6280G>T (p.Glu2094Ter)
c.6085G>T (p.Glu2029Ter)
c.6253G>T (p.Glu2085Ter)
 gnomAD v4
16g.89280160C>GCA397151263ANKRD11c.6382G>C (p.Glu2128Gln)
c.*6185G>C (n.*6185G>C)
c.745-4969G>C (n.745-4969G>C)
c.152-4969G>C
c.6280G>C (p.Glu2094Gln)
c.6085G>C (p.Glu2029Gln)
c.6253G>C (p.Glu2085Gln)
16g.89280160C>TCA397151264ANKRD11c.6382G>A (p.Glu2128Lys)
c.*6185G>A (n.*6185G>A)
c.745-4969G>A (n.745-4969G>A)
c.152-4969G>A
c.6280G>A (p.Glu2094Lys)
c.6085G>A (p.Glu2029Lys)
c.6253G>A (p.Glu2085Lys)
 gnomAD v4
16g.89280161G>ACA497373339ANKRD11c.6381C>T (p.Pro2127=)
c.*6184C>T (n.*6184C>T)
c.745-4970C>T (n.745-4970C>T)
c.152-4970C>T
c.6279C>T (p.Pro2093=)
c.6084C>T (p.Pro2028=)
c.6252C>T (p.Pro2084=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280161G>CCA497373340ANKRD11c.6381C>G (p.Pro2127=)
c.*6184C>G (n.*6184C>G)
c.745-4970C>G (n.745-4970C>G)
c.152-4970C>G
c.6279C>G (p.Pro2093=)
c.6084C>G (p.Pro2028=)
c.6252C>G (p.Pro2084=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280161G=CA2241587209ANKRD11c.6381C= (p.Pro2127=)
c.*6184C= (n.*6184C=)
c.745-4970C= (n.745-4970C=)
c.152-4970C=
c.6279C= (p.Pro2093=)
c.6084C= (p.Pro2028=)
c.6252C= (p.Pro2084=)
16g.89280161G>TCA497373341ANKRD11c.6381C>A (p.Pro2127=)
c.*6184C>A (n.*6184C>A)
c.745-4970C>A (n.745-4970C>A)
c.152-4970C>A
c.6279C>A (p.Pro2093=)
c.6084C>A (p.Pro2028=)
c.6252C>A (p.Pro2084=)
 dbSNP gnomAD v4
16g.89280162G>ACA397151265ANKRD11c.6380C>T (p.Pro2127Leu)
c.*6183C>T (n.*6183C>T)
c.745-4971C>T (n.745-4971C>T)
c.152-4971C>T
c.6278C>T (p.Pro2093Leu)
c.6083C>T (p.Pro2028Leu)
c.6251C>T (p.Pro2084Leu)
16g.89280162G>CCA397151267ANKRD11c.6380C>G (p.Pro2127Arg)
c.*6183C>G (n.*6183C>G)
c.745-4971C>G (n.745-4971C>G)
c.152-4971C>G
c.6278C>G (p.Pro2093Arg)
c.6083C>G (p.Pro2028Arg)
c.6251C>G (p.Pro2084Arg)
16g.89280162G>TCA397151266ANKRD11c.6380C>A (p.Pro2127His)
c.*6183C>A (n.*6183C>A)
c.745-4971C>A (n.745-4971C>A)
c.152-4971C>A
c.6278C>A (p.Pro2093His)
c.6083C>A (p.Pro2028His)
c.6251C>A (p.Pro2084His)
 gnomAD v4
16g.89280171_89280172insCAGGGCCGGCGACA980390266ANKRD11c.6380_6381insTGTCGCCGGCCC (p.Pro2127_Glu2128insValAlaGlyPro)
c.*6183_*6184insTGTCGCCGGCCC (n.*6183_*6184insTGTCGCCGGCCC)
c.745-4971_745-4970insTGTCGCCGGCCC (n.745-4971_745-4970insTGTCGCCGGCCC)
c.152-4971_152-4970insTGTCGCCGGCCC
c.6278_6279insTGTCGCCGGCCC (p.Pro2093_Glu2094insValAlaGlyPro)
c.6083_6084insTGTCGCCGGCCC (p.Pro2028_Glu2029insValAlaGlyPro)
c.6251_6252insTGTCGCCGGCCC (p.Pro2084_Glu2085insValAlaGlyPro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280163G>ACA397151268ANKRD11c.6379C>T (p.Pro2127Ser)
c.*6182C>T (n.*6182C>T)
c.745-4972C>T (n.745-4972C>T)
c.152-4972C>T
c.6277C>T (p.Pro2093Ser)
c.6082C>T (p.Pro2028Ser)
c.6250C>T (p.Pro2084Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89280163G>CCA397151270ANKRD11c.6379C>G (p.Pro2127Ala)
c.*6182C>G (n.*6182C>G)
c.745-4972C>G (n.745-4972C>G)
c.152-4972C>G
c.6277C>G (p.Pro2093Ala)
c.6082C>G (p.Pro2028Ala)
c.6250C>G (p.Pro2084Ala)
16g.89280163G=CA2241587210ANKRD11c.6379C= (p.Pro2127=)
c.*6182C= (n.*6182C=)
c.745-4972C= (n.745-4972C=)
c.152-4972C=
c.6277C= (p.Pro2093=)
c.6082C= (p.Pro2028=)
c.6250C= (p.Pro2084=)
16g.89280163G>TCA397151269ANKRD11c.6379C>A (p.Pro2127Thr)
c.*6182C>A (n.*6182C>A)
c.745-4972C>A (n.745-4972C>A)
c.152-4972C>A
c.6277C>A (p.Pro2093Thr)
c.6082C>A (p.Pro2028Thr)
c.6250C>A (p.Pro2084Thr)
 dbSNP gnomAD v4
16g.89280164G>ACA497373344ANKRD11c.6378C>T (p.Gly2126=)
c.*6181C>T (n.*6181C>T)
c.745-4973C>T (n.745-4973C>T)
c.152-4973C>T
c.6276C>T (p.Gly2092=)
c.6081C>T (p.Gly2027=)
c.6249C>T (p.Gly2083=)
16g.89280164G>CCA497373345ANKRD11c.6378C>G (p.Gly2126=)
c.*6181C>G (n.*6181C>G)
c.745-4973C>G (n.745-4973C>G)
c.152-4973C>G
c.6276C>G (p.Gly2092=)
c.6081C>G (p.Gly2027=)
c.6249C>G (p.Gly2083=)
16g.89280164G>TCA497373346ANKRD11c.6378C>A (p.Gly2126=)
c.*6181C>A (n.*6181C>A)
c.745-4973C>A (n.745-4973C>A)
c.152-4973C>A
c.6276C>A (p.Gly2092=)
c.6081C>A (p.Gly2027=)
c.6249C>A (p.Gly2083=)
 gnomAD v4
16g.89280165C>ACA8241470ANKRD11c.6377G>T (p.Gly2126Val)
c.*6180G>T (n.*6180G>T)
c.745-4974G>T (n.745-4974G>T)
c.152-4974G>T
c.6275G>T (p.Gly2092Val)
c.6080G>T (p.Gly2027Val)
c.6248G>T (p.Gly2083Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280165C=CA2241587211ANKRD11c.6377G= (p.Gly2126=)
c.*6180G= (n.*6180G=)
c.745-4974G= (n.745-4974G=)
c.152-4974G=
c.6275G= (p.Gly2092=)
c.6080G= (p.Gly2027=)
c.6248G= (p.Gly2083=)
16g.89280165C>GCA397151271ANKRD11c.6377G>C (p.Gly2126Ala)
c.*6180G>C (n.*6180G>C)
c.745-4974G>C (n.745-4974G>C)
c.152-4974G>C
c.6275G>C (p.Gly2092Ala)
c.6080G>C (p.Gly2027Ala)
c.6248G>C (p.Gly2083Ala)
 ClinVar dbSNP gnomAD v4
16g.89280165C>TCA8241469ANKRD11c.6377G>A (p.Gly2126Asp)
c.*6180G>A (n.*6180G>A)
c.745-4974G>A (n.745-4974G>A)
c.152-4974G>A
c.6275G>A (p.Gly2092Asp)
c.6080G>A (p.Gly2027Asp)
c.6248G>A (p.Gly2083Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280166C>ACA397151272ANKRD11c.6376G>T (p.Gly2126Cys)
c.*6179G>T (n.*6179G>T)
c.745-4975G>T (n.745-4975G>T)
c.152-4975G>T
c.6274G>T (p.Gly2092Cys)
c.6079G>T (p.Gly2027Cys)
c.6247G>T (p.Gly2083Cys)
16g.89280166C=CA2241587212ANKRD11c.6376G= (p.Gly2126=)
c.*6179G= (n.*6179G=)
c.745-4975G= (n.745-4975G=)
c.152-4975G=
c.6274G= (p.Gly2092=)
c.6079G= (p.Gly2027=)
c.6247G= (p.Gly2083=)
16g.89280166C>GCA397151273ANKRD11c.6376G>C (p.Gly2126Arg)
c.*6179G>C (n.*6179G>C)
c.745-4975G>C (n.745-4975G>C)
c.152-4975G>C
c.6274G>C (p.Gly2092Arg)
c.6079G>C (p.Gly2027Arg)
c.6247G>C (p.Gly2083Arg)
16g.89280166C>TCA8241471ANKRD11c.6376G>A (p.Gly2126Ser)
c.*6179G>A (n.*6179G>A)
c.745-4975G>A (n.745-4975G>A)
c.152-4975G>A
c.6274G>A (p.Gly2092Ser)
c.6079G>A (p.Gly2027Ser)
c.6247G>A (p.Gly2083Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280167G>ACA8241472ANKRD11c.6375C>T (p.Ala2125=)
c.*6178C>T (n.*6178C>T)
c.745-4976C>T (n.745-4976C>T)
c.152-4976C>T
c.6273C>T (p.Ala2091=)
c.6078C>T (p.Ala2026=)
c.6246C>T (p.Ala2082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280167G>CCA8241473ANKRD11c.6375C>G (p.Ala2125=)
c.*6178C>G (n.*6178C>G)
c.745-4976C>G (n.745-4976C>G)
c.152-4976C>G
c.6273C>G (p.Ala2091=)
c.6078C>G (p.Ala2026=)
c.6246C>G (p.Ala2082=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280167G=CA2241587213ANKRD11c.6375C= (p.Ala2125=)
c.*6178C= (n.*6178C=)
c.745-4976C= (n.745-4976C=)
c.152-4976C=
c.6273C= (p.Ala2091=)
c.6078C= (p.Ala2026=)
c.6246C= (p.Ala2082=)
16g.89280167G>TCA497373352ANKRD11c.6375C>A (p.Ala2125=)
c.*6178C>A (n.*6178C>A)
c.745-4976C>A (n.745-4976C>A)
c.152-4976C>A
c.6273C>A (p.Ala2091=)
c.6078C>A (p.Ala2026=)
c.6246C>A (p.Ala2082=)
 dbSNP gnomAD v4
16g.89280168G>ACA8241474ANKRD11c.6374C>T (p.Ala2125Val)
c.*6177C>T (n.*6177C>T)
c.745-4977C>T (n.745-4977C>T)
c.152-4977C>T
c.6272C>T (p.Ala2091Val)
c.6077C>T (p.Ala2026Val)
c.6245C>T (p.Ala2082Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280168G>CCA8241475ANKRD11c.6374C>G (p.Ala2125Gly)
c.*6177C>G (n.*6177C>G)
c.745-4977C>G (n.745-4977C>G)
c.152-4977C>G
c.6272C>G (p.Ala2091Gly)
c.6077C>G (p.Ala2026Gly)
c.6245C>G (p.Ala2082Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280168G=CA2241587214ANKRD11c.6374C= (p.Ala2125=)
c.*6177C= (n.*6177C=)
c.745-4977C= (n.745-4977C=)
c.152-4977C=
c.6272C= (p.Ala2091=)
c.6077C= (p.Ala2026=)
c.6245C= (p.Ala2082=)
16g.89280168G>TCA397151274ANKRD11c.6374C>A (p.Ala2125Asp)
c.*6177C>A (n.*6177C>A)
c.745-4977C>A (n.745-4977C>A)
c.152-4977C>A
c.6272C>A (p.Ala2091Asp)
c.6077C>A (p.Ala2026Asp)
c.6245C>A (p.Ala2082Asp)
 gnomAD v4
16g.89280169C>ACA286510304ANKRD11c.6373G>T (p.Ala2125Ser)
c.*6176G>T (n.*6176G>T)
c.745-4978G>T (n.745-4978G>T)
c.152-4978G>T
c.6271G>T (p.Ala2091Ser)
c.6076G>T (p.Ala2026Ser)
c.6244G>T (p.Ala2082Ser)
 dbSNP gnomAD v4
16g.89280169C=CA2241587215ANKRD11c.6373G= (p.Ala2125=)
c.*6176G= (n.*6176G=)
c.745-4978G= (n.745-4978G=)
c.152-4978G=
c.6271G= (p.Ala2091=)
c.6076G= (p.Ala2026=)
c.6244G= (p.Ala2082=)
16g.89280169C>GCA8241476ANKRD11c.6373G>C (p.Ala2125Pro)
c.*6176G>C (n.*6176G>C)
c.745-4978G>C (n.745-4978G>C)
c.152-4978G>C
c.6271G>C (p.Ala2091Pro)
c.6076G>C (p.Ala2026Pro)
c.6244G>C (p.Ala2082Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280169C>TCA8241477ANKRD11c.6373G>A (p.Ala2125Thr)
c.*6176G>A (n.*6176G>A)
c.745-4978G>A (n.745-4978G>A)
c.152-4978G>A
c.6271G>A (p.Ala2091Thr)
c.6076G>A (p.Ala2026Thr)
c.6244G>A (p.Ala2082Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280170G>ACA8241478ANKRD11c.6372C>T (p.Phe2124=)
c.*6175C>T (n.*6175C>T)
c.745-4979C>T (n.745-4979C>T)
c.152-4979C>T
c.6270C>T (p.Phe2090=)
c.6075C>T (p.Phe2025=)
c.6243C>T (p.Phe2081=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280170G>CCA397151275ANKRD11c.6372C>G (p.Phe2124Leu)
c.*6175C>G (n.*6175C>G)
c.745-4979C>G (n.745-4979C>G)
c.152-4979C>G
c.6270C>G (p.Phe2090Leu)
c.6075C>G (p.Phe2025Leu)
c.6243C>G (p.Phe2081Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280170G=CA2241587216ANKRD11c.6372C= (p.Phe2124=)
c.*6175C= (n.*6175C=)
c.745-4979C= (n.745-4979C=)
c.152-4979C=
c.6270C= (p.Phe2090=)
c.6075C= (p.Phe2025=)
c.6243C= (p.Phe2081=)
16g.89280170G>TCA397151276ANKRD11c.6372C>A (p.Phe2124Leu)
c.*6175C>A (n.*6175C>A)
c.745-4979C>A (n.745-4979C>A)
c.152-4979C>A
c.6270C>A (p.Phe2090Leu)
c.6075C>A (p.Phe2025Leu)
c.6243C>A (p.Phe2081Leu)
 gnomAD v4
16g.89280171A=CA2241587217ANKRD11c.6371T= (p.Phe2124=)
c.*6174T= (n.*6174T=)
c.745-4980T= (n.745-4980T=)
c.152-4980T=
c.6269T= (p.Phe2090=)
c.6074T= (p.Phe2025=)
c.6242T= (p.Phe2081=)
16g.89280171A>CCA397151277ANKRD11c.6371T>G (p.Phe2124Cys)
c.*6174T>G (n.*6174T>G)
c.745-4980T>G (n.745-4980T>G)
c.152-4980T>G
c.6269T>G (p.Phe2090Cys)
c.6074T>G (p.Phe2025Cys)
c.6242T>G (p.Phe2081Cys)
16g.89280171A>GCA397151278ANKRD11c.6371T>C (p.Phe2124Ser)
c.*6174T>C (n.*6174T>C)
c.745-4980T>C (n.745-4980T>C)
c.152-4980T>C
c.6269T>C (p.Phe2090Ser)
c.6074T>C (p.Phe2025Ser)
c.6242T>C (p.Phe2081Ser)
 gnomAD v4
16g.89280171A>TCA397151279ANKRD11c.6371T>A (p.Phe2124Tyr)
c.*6174T>A (n.*6174T>A)
c.745-4980T>A (n.745-4980T>A)
c.152-4980T>A
c.6269T>A (p.Phe2090Tyr)
c.6074T>A (p.Phe2025Tyr)
c.6242T>A (p.Phe2081Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89280172A=CA2241587218ANKRD11c.6370T= (p.Phe2124=)
c.*6173T= (n.*6173T=)
c.745-4981T= (n.745-4981T=)
c.152-4981T=
c.6268T= (p.Phe2090=)
c.6073T= (p.Phe2025=)
c.6241T= (p.Phe2081=)
16g.89280172A>CCA397151280ANKRD11c.6370T>G (p.Phe2124Val)
c.*6173T>G (n.*6173T>G)
c.745-4981T>G (n.745-4981T>G)
c.152-4981T>G
c.6268T>G (p.Phe2090Val)
c.6073T>G (p.Phe2025Val)
c.6241T>G (p.Phe2081Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280172A>GCA397151281ANKRD11c.6370T>C (p.Phe2124Leu)
c.*6173T>C (n.*6173T>C)
c.745-4981T>C (n.745-4981T>C)
c.152-4981T>C
c.6268T>C (p.Phe2090Leu)
c.6073T>C (p.Phe2025Leu)
c.6241T>C (p.Phe2081Leu)
16g.89280172A>TCA397151282ANKRD11c.6370T>A (p.Phe2124Ile)
c.*6173T>A (n.*6173T>A)
c.745-4981T>A (n.745-4981T>A)
c.152-4981T>A
c.6268T>A (p.Phe2090Ile)
c.6073T>A (p.Phe2025Ile)
c.6241T>A (p.Phe2081Ile)
16g.89280173G>ACA8241479ANKRD11c.6369C>T (p.Ala2123=)
c.*6172C>T (n.*6172C>T)
c.745-4982C>T (n.745-4982C>T)
c.152-4982C>T
c.6267C>T (p.Ala2089=)
c.6072C>T (p.Ala2024=)
c.6240C>T (p.Ala2080=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280173G>CCA497373357ANKRD11c.6369C>G (p.Ala2123=)
c.*6172C>G (n.*6172C>G)
c.745-4982C>G (n.745-4982C>G)
c.152-4982C>G
c.6267C>G (p.Ala2089=)
c.6072C>G (p.Ala2024=)
c.6240C>G (p.Ala2080=)
 gnomAD v4
16g.89280173G=CA2241587219ANKRD11c.6369C= (p.Ala2123=)
c.*6172C= (n.*6172C=)
c.745-4982C= (n.745-4982C=)
c.152-4982C=
c.6267C= (p.Ala2089=)
c.6072C= (p.Ala2024=)
c.6240C= (p.Ala2080=)
16g.89280173G>TCA497373356ANKRD11c.6369C>A (p.Ala2123=)
c.*6172C>A (n.*6172C>A)
c.745-4982C>A (n.745-4982C>A)
c.152-4982C>A
c.6267C>A (p.Ala2089=)
c.6072C>A (p.Ala2024=)
c.6240C>A (p.Ala2080=)
 gnomAD v4
16g.89280174G>ACA397151284ANKRD11c.6368C>T (p.Ala2123Val)
c.*6171C>T (n.*6171C>T)
c.745-4983C>T (n.745-4983C>T)
c.152-4983C>T
c.6266C>T (p.Ala2089Val)
c.6071C>T (p.Ala2024Val)
c.6239C>T (p.Ala2080Val)
 gnomAD v4
16g.89280174G>CCA397151285ANKRD11c.6368C>G (p.Ala2123Gly)
c.*6171C>G (n.*6171C>G)
c.745-4983C>G (n.745-4983C>G)
c.152-4983C>G
c.6266C>G (p.Ala2089Gly)
c.6071C>G (p.Ala2024Gly)
c.6239C>G (p.Ala2080Gly)
16g.89280174G>TCA397151283ANKRD11c.6368C>A (p.Ala2123Asp)
c.*6171C>A (n.*6171C>A)
c.745-4983C>A (n.745-4983C>A)
c.152-4983C>A
c.6266C>A (p.Ala2089Asp)
c.6071C>A (p.Ala2024Asp)
c.6239C>A (p.Ala2080Asp)
 gnomAD v4
16g.89280175C>ACA397151286ANKRD11c.6367G>T (p.Ala2123Ser)
c.*6170G>T (n.*6170G>T)
c.745-4984G>T (n.745-4984G>T)
c.152-4984G>T
c.6265G>T (p.Ala2089Ser)
c.6070G>T (p.Ala2024Ser)
c.6238G>T (p.Ala2080Ser)
16g.89280175C=CA2241587220ANKRD11c.6367G= (p.Ala2123=)
c.*6170G= (n.*6170G=)
c.745-4984G= (n.745-4984G=)
c.152-4984G=
c.6265G= (p.Ala2089=)
c.6070G= (p.Ala2024=)
c.6238G= (p.Ala2080=)
16g.89280175C>GCA397151287ANKRD11c.6367G>C (p.Ala2123Pro)
c.*6170G>C (n.*6170G>C)
c.745-4984G>C (n.745-4984G>C)
c.152-4984G>C
c.6265G>C (p.Ala2089Pro)
c.6070G>C (p.Ala2024Pro)
c.6238G>C (p.Ala2080Pro)
16g.89280175C>TCA397151288ANKRD11c.6367G>A (p.Ala2123Thr)
c.*6170G>A (n.*6170G>A)
c.745-4984G>A (n.745-4984G>A)
c.152-4984G>A
c.6265G>A (p.Ala2089Thr)
c.6070G>A (p.Ala2024Thr)
c.6238G>A (p.Ala2080Thr)
 dbSNP gnomAD v4
16g.89280177_89280180delCA2695223921ANKRD11c.6364_6367del (p.Asp2122ProfsTer?)
c.*6167_*6170del (n.*6167_*6170del)
c.745-4987_745-4984del (n.745-4987_745-4984del)
c.152-4987_152-4984del
c.6262_6265del (p.Asp2088ProfsTer?)
c.6067_6070del (p.Asp2023ProfsTer?)
c.6235_6238del (p.Asp2079ProfsTer?)
16g.89280176G>ACA8241480ANKRD11c.6366C>T (p.Asp2122=)
c.*6169C>T (n.*6169C>T)
c.745-4985C>T (n.745-4985C>T)
c.152-4985C>T
c.6264C>T (p.Asp2088=)
c.6069C>T (p.Asp2023=)
c.6237C>T (p.Asp2079=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280176G>CCA397151289ANKRD11c.6366C>G (p.Asp2122Glu)
c.*6169C>G (n.*6169C>G)
c.745-4985C>G (n.745-4985C>G)
c.152-4985C>G
c.6264C>G (p.Asp2088Glu)
c.6069C>G (p.Asp2023Glu)
c.6237C>G (p.Asp2079Glu)
16g.89280176G=CA2241587221ANKRD11c.6366C= (p.Asp2122=)
c.*6169C= (n.*6169C=)
c.745-4985C= (n.745-4985C=)
c.152-4985C=
c.6264C= (p.Asp2088=)
c.6069C= (p.Asp2023=)
c.6237C= (p.Asp2079=)
16g.89280176G>TCA397151290ANKRD11c.6366C>A (p.Asp2122Glu)
c.*6169C>A (n.*6169C>A)
c.745-4985C>A (n.745-4985C>A)
c.152-4985C>A
c.6264C>A (p.Asp2088Glu)
c.6069C>A (p.Asp2023Glu)
c.6237C>A (p.Asp2079Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280177T>ACA397151291ANKRD11c.6365A>T (p.Asp2122Val)
c.*6168A>T (n.*6168A>T)
c.745-4986A>T (n.745-4986A>T)
c.152-4986A>T
c.6263A>T (p.Asp2088Val)
c.6068A>T (p.Asp2023Val)
c.6236A>T (p.Asp2079Val)
16g.89280177T>CCA397151292ANKRD11c.6365A>G (p.Asp2122Gly)
c.*6168A>G (n.*6168A>G)
c.745-4986A>G (n.745-4986A>G)
c.152-4986A>G
c.6263A>G (p.Asp2088Gly)
c.6068A>G (p.Asp2023Gly)
c.6236A>G (p.Asp2079Gly)
 dbSNP
16g.89280177T>GCA397151293ANKRD11c.6365A>C (p.Asp2122Ala)
c.*6168A>C (n.*6168A>C)
c.745-4986A>C (n.745-4986A>C)
c.152-4986A>C
c.6263A>C (p.Asp2088Ala)
c.6068A>C (p.Asp2023Ala)
c.6236A>C (p.Asp2079Ala)
16g.89280177T=CA2241587222ANKRD11c.6365A= (p.Asp2122=)
c.*6168A= (n.*6168A=)
c.745-4986A= (n.745-4986A=)
c.152-4986A=
c.6263A= (p.Asp2088=)
c.6068A= (p.Asp2023=)
c.6236A= (p.Asp2079=)
16g.89280178C>ACA397151294ANKRD11c.6364G>T (p.Asp2122Tyr)
c.*6167G>T (n.*6167G>T)
c.745-4987G>T (n.745-4987G>T)
c.152-4987G>T
c.6262G>T (p.Asp2088Tyr)
c.6067G>T (p.Asp2023Tyr)
c.6235G>T (p.Asp2079Tyr)
16g.89280178C=CA2241587223ANKRD11c.6364G= (p.Asp2122=)
c.*6167G= (n.*6167G=)
c.745-4987G= (n.745-4987G=)
c.152-4987G=
c.6262G= (p.Asp2088=)
c.6067G= (p.Asp2023=)
c.6235G= (p.Asp2079=)
16g.89280178C>GCA8241481ANKRD11c.6364G>C (p.Asp2122His)
c.*6167G>C (n.*6167G>C)
c.745-4987G>C (n.745-4987G>C)
c.152-4987G>C
c.6262G>C (p.Asp2088His)
c.6067G>C (p.Asp2023His)
c.6235G>C (p.Asp2079His)
 dbSNP ExAC gnomAD v2
16g.89280178C>TCA397151295ANKRD11c.6364G>A (p.Asp2122Asn)
c.*6167G>A (n.*6167G>A)
c.745-4987G>A (n.745-4987G>A)
c.152-4987G>A
c.6262G>A (p.Asp2088Asn)
c.6067G>A (p.Asp2023Asn)
c.6235G>A (p.Asp2079Asn)
 gnomAD v4
16g.89280179C>ACA497373364ANKRD11c.6363G>T (p.Ala2121=)
c.*6166G>T (n.*6166G>T)
c.745-4988G>T (n.745-4988G>T)
c.152-4988G>T
c.6261G>T (p.Ala2087=)
c.6066G>T (p.Ala2022=)
c.6234G>T (p.Ala2078=)
16g.89280179C=CA2241587224ANKRD11c.6363G= (p.Ala2121=)
c.*6166G= (n.*6166G=)
c.745-4988G= (n.745-4988G=)
c.152-4988G=
c.6261G= (p.Ala2087=)
c.6066G= (p.Ala2022=)
c.6234G= (p.Ala2078=)
16g.89280179C>GCA497373365ANKRD11c.6363G>C (p.Ala2121=)
c.*6166G>C (n.*6166G>C)
c.745-4988G>C (n.745-4988G>C)
c.152-4988G>C
c.6261G>C (p.Ala2087=)
c.6066G>C (p.Ala2022=)
c.6234G>C (p.Ala2078=)
16g.89280179C>TCA8241482ANKRD11c.6363G>A (p.Ala2121=)
c.*6166G>A (n.*6166G>A)
c.745-4988G>A (n.745-4988G>A)
c.152-4988G>A
c.6261G>A (p.Ala2087=)
c.6066G>A (p.Ala2022=)
c.6234G>A (p.Ala2078=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280180G>ACA8241483ANKRD11c.6362C>T (p.Ala2121Val)
c.*6165C>T (n.*6165C>T)
c.745-4989C>T (n.745-4989C>T)
c.152-4989C>T
c.6260C>T (p.Ala2087Val)
c.6065C>T (p.Ala2022Val)
c.6233C>T (p.Ala2078Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280180G>CCA397151297ANKRD11c.6362C>G (p.Ala2121Gly)
c.*6165C>G (n.*6165C>G)
c.745-4989C>G (n.745-4989C>G)
c.152-4989C>G
c.6260C>G (p.Ala2087Gly)
c.6065C>G (p.Ala2022Gly)
c.6233C>G (p.Ala2078Gly)
16g.89280180G=CA2241587225ANKRD11c.6362C= (p.Ala2121=)
c.*6165C= (n.*6165C=)
c.745-4989C= (n.745-4989C=)
c.152-4989C=
c.6260C= (p.Ala2087=)
c.6065C= (p.Ala2022=)
c.6233C= (p.Ala2078=)
16g.89280180G>TCA397151296ANKRD11c.6362C>A (p.Ala2121Glu)
c.*6165C>A (n.*6165C>A)
c.745-4989C>A (n.745-4989C>A)
c.152-4989C>A
c.6260C>A (p.Ala2087Glu)
c.6065C>A (p.Ala2022Glu)
c.6233C>A (p.Ala2078Glu)
 gnomAD v4
16g.89280180_89280193delCA2573054296ANKRD11c.6349_6362del (p.Pro2117GlyfsTer25)
c.*6152_*6165del (n.*6152_*6165del)
c.745-5002_745-4989del (n.745-5002_745-4989del)
c.152-5002_152-4989del
c.6247_6260del (p.Pro2083GlyfsTer25)
c.6052_6065del (p.Pro2018GlyfsTer25)
c.6220_6233del (p.Pro2074GlyfsTer25)
 ClinVar dbSNP
16g.89280181C>ACA397151298ANKRD11c.6361G>T (p.Ala2121Ser)
c.*6164G>T (n.*6164G>T)
c.745-4990G>T (n.745-4990G>T)
c.152-4990G>T
c.6259G>T (p.Ala2087Ser)
c.6064G>T (p.Ala2022Ser)
c.6232G>T (p.Ala2078Ser)
 dbSNP gnomAD v4
16g.89280181C=CA2241587226ANKRD11c.6361G= (p.Ala2121=)
c.*6164G= (n.*6164G=)
c.745-4990G= (n.745-4990G=)
c.152-4990G=
c.6259G= (p.Ala2087=)
c.6064G= (p.Ala2022=)
c.6232G= (p.Ala2078=)
16g.89280181C>GCA397151299ANKRD11c.6361G>C (p.Ala2121Pro)
c.*6164G>C (n.*6164G>C)
c.745-4990G>C (n.745-4990G>C)
c.152-4990G>C
c.6259G>C (p.Ala2087Pro)
c.6064G>C (p.Ala2022Pro)
c.6232G>C (p.Ala2078Pro)
16g.89280181C>TCA8241484ANKRD11c.6361G>A (p.Ala2121Thr)
c.*6164G>A (n.*6164G>A)
c.745-4990G>A (n.745-4990G>A)
c.152-4990G>A
c.6259G>A (p.Ala2087Thr)
c.6064G>A (p.Ala2022Thr)
c.6232G>A (p.Ala2078Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280182C>ACA397151300ANKRD11c.6360G>T (p.Trp2120Cys)
c.*6163G>T (n.*6163G>T)
c.745-4991G>T (n.745-4991G>T)
c.152-4991G>T
c.6258G>T (p.Trp2086Cys)
c.6063G>T (p.Trp2021Cys)
c.6231G>T (p.Trp2077Cys)
 dbSNP gnomAD v4
16g.89280182C=CA2241587227ANKRD11c.6360G= (p.Trp2120=)
c.*6163G= (n.*6163G=)
c.745-4991G= (n.745-4991G=)
c.152-4991G=
c.6258G= (p.Trp2086=)
c.6063G= (p.Trp2021=)
c.6231G= (p.Trp2077=)
16g.89280182C>GCA397151301ANKRD11c.6360G>C (p.Trp2120Cys)
c.*6163G>C (n.*6163G>C)
c.745-4991G>C (n.745-4991G>C)
c.152-4991G>C
c.6258G>C (p.Trp2086Cys)
c.6063G>C (p.Trp2021Cys)
c.6231G>C (p.Trp2077Cys)
 gnomAD v4
16g.89280182C>TCA397151302ANKRD11c.6360G>A (p.Trp2120Ter)
c.*6163G>A (n.*6163G>A)
c.745-4991G>A (n.745-4991G>A)
c.152-4991G>A
c.6258G>A (p.Trp2086Ter)
c.6063G>A (p.Trp2021Ter)
c.6231G>A (p.Trp2077Ter)
 gnomAD v4
16g.89280182_89280185delCA658761828ANKRD11c.6357_6360del (p.Trp2120ArgfsTer?)
c.*6160_*6163del (n.*6160_*6163del)
c.745-4994_745-4991del (n.745-4994_745-4991del)
c.152-4994_152-4991del
c.6255_6258del (p.Trp2086ArgfsTer?)
c.6060_6063del (p.Trp2021ArgfsTer?)
c.6228_6231del (p.Trp2077ArgfsTer?)
16g.89280183C>ACA397151303ANKRD11c.6359G>T (p.Trp2120Leu)
c.*6162G>T (n.*6162G>T)
c.745-4992G>T (n.745-4992G>T)
c.152-4992G>T
c.6257G>T (p.Trp2086Leu)
c.6062G>T (p.Trp2021Leu)
c.6230G>T (p.Trp2077Leu)
16g.89280183C>GCA397151304ANKRD11c.6359G>C (p.Trp2120Ser)
c.*6162G>C (n.*6162G>C)
c.745-4992G>C (n.745-4992G>C)
c.152-4992G>C
c.6257G>C (p.Trp2086Ser)
c.6062G>C (p.Trp2021Ser)
c.6230G>C (p.Trp2077Ser)
16g.89280183C>TCA397151305ANKRD11c.6359G>A (p.Trp2120Ter)
c.*6162G>A (n.*6162G>A)
c.745-4992G>A (n.745-4992G>A)
c.152-4992G>A
c.6257G>A (p.Trp2086Ter)
c.6062G>A (p.Trp2021Ter)
c.6230G>A (p.Trp2077Ter)
16g.89280184A>CCA397151306ANKRD11c.6358T>G (p.Trp2120Gly)
c.*6161T>G (n.*6161T>G)
c.745-4993T>G (n.745-4993T>G)
c.152-4993T>G
c.6256T>G (p.Trp2086Gly)
c.6061T>G (p.Trp2021Gly)
c.6229T>G (p.Trp2077Gly)
16g.89280184A>GCA397151307ANKRD11c.6358T>C (p.Trp2120Arg)
c.*6161T>C (n.*6161T>C)
c.745-4993T>C (n.745-4993T>C)
c.152-4993T>C
c.6256T>C (p.Trp2086Arg)
c.6061T>C (p.Trp2021Arg)
c.6229T>C (p.Trp2077Arg)
16g.89280184A>TCA397151308ANKRD11c.6358T>A (p.Trp2120Arg)
c.*6161T>A (n.*6161T>A)
c.745-4993T>A (n.745-4993T>A)
c.152-4993T>A
c.6256T>A (p.Trp2086Arg)
c.6061T>A (p.Trp2021Arg)
c.6229T>A (p.Trp2077Arg)
16g.89280185G>ACA497373368ANKRD11c.6357C>T (p.Pro2119=)
c.*6160C>T (n.*6160C>T)
c.745-4994C>T (n.745-4994C>T)
c.152-4994C>T
c.6255C>T (p.Pro2085=)
c.6060C>T (p.Pro2020=)
c.6228C>T (p.Pro2076=)
 gnomAD v4
16g.89280185G>CCA497373369ANKRD11c.6357C>G (p.Pro2119=)
c.*6160C>G (n.*6160C>G)
c.745-4994C>G (n.745-4994C>G)
c.152-4994C>G
c.6255C>G (p.Pro2085=)
c.6060C>G (p.Pro2020=)
c.6228C>G (p.Pro2076=)
16g.89280185G>TCA497373370ANKRD11c.6357C>A (p.Pro2119=)
c.*6160C>A (n.*6160C>A)
c.745-4994C>A (n.745-4994C>A)
c.152-4994C>A
c.6255C>A (p.Pro2085=)
c.6060C>A (p.Pro2020=)
c.6228C>A (p.Pro2076=)
16g.89280186G>ACA397151311ANKRD11c.6356C>T (p.Pro2119Leu)
c.*6159C>T (n.*6159C>T)
c.745-4995C>T (n.745-4995C>T)
c.152-4995C>T
c.6254C>T (p.Pro2085Leu)
c.6059C>T (p.Pro2020Leu)
c.6227C>T (p.Pro2076Leu)
 gnomAD v4
16g.89280186G>CCA397151310ANKRD11c.6356C>G (p.Pro2119Arg)
c.*6159C>G (n.*6159C>G)
c.745-4995C>G (n.745-4995C>G)
c.152-4995C>G
c.6254C>G (p.Pro2085Arg)
c.6059C>G (p.Pro2020Arg)
c.6227C>G (p.Pro2076Arg)
 gnomAD v4
16g.89280186G>TCA397151309ANKRD11c.6356C>A (p.Pro2119His)
c.*6159C>A (n.*6159C>A)
c.745-4995C>A (n.745-4995C>A)
c.152-4995C>A
c.6254C>A (p.Pro2085His)
c.6059C>A (p.Pro2020His)
c.6227C>A (p.Pro2076His)
16g.89280187G>ACA397151312ANKRD11c.6355C>T (p.Pro2119Ser)
c.*6158C>T (n.*6158C>T)
c.745-4996C>T (n.745-4996C>T)
c.152-4996C>T
c.6253C>T (p.Pro2085Ser)
c.6058C>T (p.Pro2020Ser)
c.6226C>T (p.Pro2076Ser)
 dbSNP gnomAD v4
16g.89280187G>CCA397151314ANKRD11c.6355C>G (p.Pro2119Ala)
c.*6158C>G (n.*6158C>G)
c.745-4996C>G (n.745-4996C>G)
c.152-4996C>G
c.6253C>G (p.Pro2085Ala)
c.6058C>G (p.Pro2020Ala)
c.6226C>G (p.Pro2076Ala)
16g.89280187G=CA2241587228ANKRD11c.6355C= (p.Pro2119=)
c.*6158C= (n.*6158C=)
c.745-4996C= (n.745-4996C=)
c.152-4996C=
c.6253C= (p.Pro2085=)
c.6058C= (p.Pro2020=)
c.6226C= (p.Pro2076=)
16g.89280187G>TCA397151313ANKRD11c.6355C>A (p.Pro2119Thr)
c.*6158C>A (n.*6158C>A)
c.745-4996C>A (n.745-4996C>A)
c.152-4996C>A
c.6253C>A (p.Pro2085Thr)
c.6058C>A (p.Pro2020Thr)
c.6226C>A (p.Pro2076Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.89280188C>ACA497373373ANKRD11c.6354G>T (p.Val2118=)
c.*6157G>T (n.*6157G>T)
c.745-4997G>T (n.745-4997G>T)
c.152-4997G>T
c.6252G>T (p.Val2084=)
c.6057G>T (p.Val2019=)
c.6225G>T (p.Val2075=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280188C=CA2241587229ANKRD11c.6354G= (p.Val2118=)
c.*6157G= (n.*6157G=)
c.745-4997G= (n.745-4997G=)
c.152-4997G=
c.6252G= (p.Val2084=)
c.6057G= (p.Val2019=)
c.6225G= (p.Val2075=)
16g.89280188C>GCA497373374ANKRD11c.6354G>C (p.Val2118=)
c.*6157G>C (n.*6157G>C)
c.745-4997G>C (n.745-4997G>C)
c.152-4997G>C
c.6252G>C (p.Val2084=)
c.6057G>C (p.Val2019=)
c.6225G>C (p.Val2075=)
 dbSNP gnomAD v4
16g.89280188C>TCA497373375ANKRD11c.6354G>A (p.Val2118=)
c.*6157G>A (n.*6157G>A)
c.745-4997G>A (n.745-4997G>A)
c.152-4997G>A
c.6252G>A (p.Val2084=)
c.6057G>A (p.Val2019=)
c.6225G>A (p.Val2075=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280189A>CCA397151315ANKRD11c.6353T>G (p.Val2118Gly)
c.*6156T>G (n.*6156T>G)
c.745-4998T>G (n.745-4998T>G)
c.152-4998T>G
c.6251T>G (p.Val2084Gly)
c.6056T>G (p.Val2019Gly)
c.6224T>G (p.Val2075Gly)
16g.89280189A>GCA397151316ANKRD11c.6353T>C (p.Val2118Ala)
c.*6156T>C (n.*6156T>C)
c.745-4998T>C (n.745-4998T>C)
c.152-4998T>C
c.6251T>C (p.Val2084Ala)
c.6056T>C (p.Val2019Ala)
c.6224T>C (p.Val2075Ala)
16g.89280189A>TCA397151317ANKRD11c.6353T>A (p.Val2118Glu)
c.*6156T>A (n.*6156T>A)
c.745-4998T>A (n.745-4998T>A)
c.152-4998T>A
c.6251T>A (p.Val2084Glu)
c.6056T>A (p.Val2019Glu)
c.6224T>A (p.Val2075Glu)
16g.89280190C>ACA397151318ANKRD11c.6352G>T (p.Val2118Leu)
c.*6155G>T (n.*6155G>T)
c.745-4999G>T (n.745-4999G>T)
c.152-4999G>T
c.6250G>T (p.Val2084Leu)
c.6055G>T (p.Val2019Leu)
c.6223G>T (p.Val2075Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280190C=CA2241587230ANKRD11c.6352G= (p.Val2118=)
c.*6155G= (n.*6155G=)
c.745-4999G= (n.745-4999G=)
c.152-4999G=
c.6250G= (p.Val2084=)
c.6055G= (p.Val2019=)
c.6223G= (p.Val2075=)
16g.89280190C>GCA397151319ANKRD11c.6352G>C (p.Val2118Leu)
c.*6155G>C (n.*6155G>C)
c.745-4999G>C (n.745-4999G>C)
c.152-4999G>C
c.6250G>C (p.Val2084Leu)
c.6055G>C (p.Val2019Leu)
c.6223G>C (p.Val2075Leu)
 gnomAD v4
16g.89280190C>TCA397151320ANKRD11c.6352G>A (p.Val2118Met)
c.*6155G>A (n.*6155G>A)
c.745-4999G>A (n.745-4999G>A)
c.152-4999G>A
c.6250G>A (p.Val2084Met)
c.6055G>A (p.Val2019Met)
c.6223G>A (p.Val2075Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280191C>ACA497373376ANKRD11c.6351G>T (p.Pro2117=)
c.*6154G>T (n.*6154G>T)
c.745-5000G>T (n.745-5000G>T)
c.152-5000G>T
c.6249G>T (p.Pro2083=)
c.6054G>T (p.Pro2018=)
c.6222G>T (p.Pro2074=)
 gnomAD v4 COSMIC
16g.89280191C=CA2241587231ANKRD11c.6351G= (p.Pro2117=)
c.*6154G= (n.*6154G=)
c.745-5000G= (n.745-5000G=)
c.152-5000G=
c.6249G= (p.Pro2083=)
c.6054G= (p.Pro2018=)
c.6222G= (p.Pro2074=)
16g.89280191C>GCA497373377ANKRD11c.6351G>C (p.Pro2117=)
c.*6154G>C (n.*6154G>C)
c.745-5000G>C (n.745-5000G>C)
c.152-5000G>C
c.6249G>C (p.Pro2083=)
c.6054G>C (p.Pro2018=)
c.6222G>C (p.Pro2074=)
16g.89280191C>TCA8241485ANKRD11c.6351G>A (p.Pro2117=)
c.*6154G>A (n.*6154G>A)
c.745-5000G>A (n.745-5000G>A)
c.152-5000G>A
c.6249G>A (p.Pro2083=)
c.6054G>A (p.Pro2018=)
c.6222G>A (p.Pro2074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280192G>ACA8241486ANKRD11c.6350C>T (p.Pro2117Leu)
c.*6153C>T (n.*6153C>T)
c.745-5001C>T (n.745-5001C>T)
c.152-5001C>T
c.6248C>T (p.Pro2083Leu)
c.6053C>T (p.Pro2018Leu)
c.6221C>T (p.Pro2074Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280192G>CCA397151321ANKRD11c.6350C>G (p.Pro2117Arg)
c.*6153C>G (n.*6153C>G)
c.745-5001C>G (n.745-5001C>G)
c.152-5001C>G
c.6248C>G (p.Pro2083Arg)
c.6053C>G (p.Pro2018Arg)
c.6221C>G (p.Pro2074Arg)
16g.89280192G=CA2241587232ANKRD11c.6350C= (p.Pro2117=)
c.*6153C= (n.*6153C=)
c.745-5001C= (n.745-5001C=)
c.152-5001C=
c.6248C= (p.Pro2083=)
c.6053C= (p.Pro2018=)
c.6221C= (p.Pro2074=)
16g.89280192G>TCA397151322ANKRD11c.6350C>A (p.Pro2117Gln)
c.*6153C>A (n.*6153C>A)
c.745-5001C>A (n.745-5001C>A)
c.152-5001C>A
c.6248C>A (p.Pro2083Gln)
c.6053C>A (p.Pro2018Gln)
c.6221C>A (p.Pro2074Gln)
16g.89280193G>ACA397151323ANKRD11c.6349C>T (p.Pro2117Ser)
c.*6152C>T (n.*6152C>T)
c.745-5002C>T (n.745-5002C>T)
c.152-5002C>T
c.6247C>T (p.Pro2083Ser)
c.6052C>T (p.Pro2018Ser)
c.6220C>T (p.Pro2074Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89280193G>CCA397151324ANKRD11c.6349C>G (p.Pro2117Ala)
c.*6152C>G (n.*6152C>G)
c.745-5002C>G (n.745-5002C>G)
c.152-5002C>G
c.6247C>G (p.Pro2083Ala)
c.6052C>G (p.Pro2018Ala)
c.6220C>G (p.Pro2074Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280193G=CA2241587233ANKRD11c.6349C= (p.Pro2117=)
c.*6152C= (n.*6152C=)
c.745-5002C= (n.745-5002C=)
c.152-5002C=
c.6247C= (p.Pro2083=)
c.6052C= (p.Pro2018=)
c.6220C= (p.Pro2074=)
16g.89280193G>TCA397151325ANKRD11c.6349C>A (p.Pro2117Thr)
c.*6152C>A (n.*6152C>A)
c.745-5002C>A (n.745-5002C>A)
c.152-5002C>A
c.6247C>A (p.Pro2083Thr)
c.6052C>A (p.Pro2018Thr)
c.6220C>A (p.Pro2074Thr)
 gnomAD v4
16g.89280194C>ACA397151326ANKRD11c.6348G>T (p.Glu2116Asp)
c.*6151G>T (n.*6151G>T)
c.745-5003G>T (n.745-5003G>T)
c.152-5003G>T
c.6246G>T (p.Glu2082Asp)
c.6051G>T (p.Glu2017Asp)
c.6219G>T (p.Glu2073Asp)
16g.89280194C=CA2241587234ANKRD11c.6348G= (p.Glu2116=)
c.*6151G= (n.*6151G=)
c.745-5003G= (n.745-5003G=)
c.152-5003G=
c.6246G= (p.Glu2082=)
c.6051G= (p.Glu2017=)
c.6219G= (p.Glu2073=)
16g.89280194C>GCA8241487ANKRD11c.6348G>C (p.Glu2116Asp)
c.*6151G>C (n.*6151G>C)
c.745-5003G>C (n.745-5003G>C)
c.152-5003G>C
c.6246G>C (p.Glu2082Asp)
c.6051G>C (p.Glu2017Asp)
c.6219G>C (p.Glu2073Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280194C>TCA497373381ANKRD11c.6348G>A (p.Glu2116=)
c.*6151G>A (n.*6151G>A)
c.745-5003G>A (n.745-5003G>A)
c.152-5003G>A
c.6246G>A (p.Glu2082=)
c.6051G>A (p.Glu2017=)
c.6219G>A (p.Glu2073=)
 gnomAD v4
16g.89280195T>ACA397151327ANKRD11c.6347A>T (p.Glu2116Val)
c.*6150A>T (n.*6150A>T)
c.745-5004A>T (n.745-5004A>T)
c.152-5004A>T
c.6245A>T (p.Glu2082Val)
c.6050A>T (p.Glu2017Val)
c.6218A>T (p.Glu2073Val)
16g.89280195T>CCA8241488ANKRD11c.6347A>G (p.Glu2116Gly)
c.*6150A>G (n.*6150A>G)
c.745-5004A>G (n.745-5004A>G)
c.152-5004A>G
c.6245A>G (p.Glu2082Gly)
c.6050A>G (p.Glu2017Gly)
c.6218A>G (p.Glu2073Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280195T>GCA397151328ANKRD11c.6347A>C (p.Glu2116Ala)
c.*6150A>C (n.*6150A>C)
c.745-5004A>C (n.745-5004A>C)
c.152-5004A>C
c.6245A>C (p.Glu2082Ala)
c.6050A>C (p.Glu2017Ala)
c.6218A>C (p.Glu2073Ala)
16g.89280195T=CA2241587235ANKRD11c.6347A= (p.Glu2116=)
c.*6150A= (n.*6150A=)
c.745-5004A= (n.745-5004A=)
c.152-5004A=
c.6245A= (p.Glu2082=)
c.6050A= (p.Glu2017=)
c.6218A= (p.Glu2073=)
16g.89280196C>ACA397151329ANKRD11c.6346G>T (p.Glu2116Ter)
c.*6149G>T (n.*6149G>T)
c.745-5005G>T (n.745-5005G>T)
c.152-5005G>T
c.6244G>T (p.Glu2082Ter)
c.6049G>T (p.Glu2017Ter)
c.6217G>T (p.Glu2073Ter)
 gnomAD v4
16g.89280196C>GCA397151330ANKRD11c.6346G>C (p.Glu2116Gln)
c.*6149G>C (n.*6149G>C)
c.745-5005G>C (n.745-5005G>C)
c.152-5005G>C
c.6244G>C (p.Glu2082Gln)
c.6049G>C (p.Glu2017Gln)
c.6217G>C (p.Glu2073Gln)
 gnomAD v4
16g.89280196C>TCA397151331ANKRD11c.6346G>A (p.Glu2116Lys)
c.*6149G>A (n.*6149G>A)
c.745-5005G>A (n.745-5005G>A)
c.152-5005G>A
c.6244G>A (p.Glu2082Lys)
c.6049G>A (p.Glu2017Lys)
c.6217G>A (p.Glu2073Lys)
 ClinVar gnomAD v4
16g.89280197C>ACA497373390ANKRD11c.6345G>T (p.Val2115=)
c.*6148G>T (n.*6148G>T)
c.745-5006G>T (n.745-5006G>T)
c.152-5006G>T
c.6243G>T (p.Val2081=)
c.6048G>T (p.Val2016=)
c.6216G>T (p.Val2072=)
 gnomAD v4
16g.89280197C=CA2241587236ANKRD11c.6345G= (p.Val2115=)
c.*6148G= (n.*6148G=)
c.745-5006G= (n.745-5006G=)
c.152-5006G=
c.6243G= (p.Val2081=)
c.6048G= (p.Val2016=)
c.6216G= (p.Val2072=)
16g.89280197C>GCA497373386ANKRD11c.6345G>C (p.Val2115=)
c.*6148G>C (n.*6148G>C)
c.745-5006G>C (n.745-5006G>C)
c.152-5006G>C
c.6243G>C (p.Val2081=)
c.6048G>C (p.Val2016=)
c.6216G>C (p.Val2072=)
16g.89280197C>TCA8241489ANKRD11c.6345G>A (p.Val2115=)
c.*6148G>A (n.*6148G>A)
c.745-5006G>A (n.745-5006G>A)
c.152-5006G>A
c.6243G>A (p.Val2081=)
c.6048G>A (p.Val2016=)
c.6216G>A (p.Val2072=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280198A=CA2241587237ANKRD11c.6344T= (p.Val2115=)
c.*6147T= (n.*6147T=)
c.745-5007T= (n.745-5007T=)
c.152-5007T=
c.6242T= (p.Val2081=)
c.6047T= (p.Val2016=)
c.6215T= (p.Val2072=)
16g.89280198A>CCA8241490ANKRD11c.6344T>G (p.Val2115Gly)
c.*6147T>G (n.*6147T>G)
c.745-5007T>G (n.745-5007T>G)
c.152-5007T>G
c.6242T>G (p.Val2081Gly)
c.6047T>G (p.Val2016Gly)
c.6215T>G (p.Val2072Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280198A>GCA397151332ANKRD11c.6344T>C (p.Val2115Ala)
c.*6147T>C (n.*6147T>C)
c.745-5007T>C (n.745-5007T>C)
c.152-5007T>C
c.6242T>C (p.Val2081Ala)
c.6047T>C (p.Val2016Ala)
c.6215T>C (p.Val2072Ala)
16g.89280198A>TCA397151333ANKRD11c.6344T>A (p.Val2115Glu)
c.*6147T>A (n.*6147T>A)
c.745-5007T>A (n.745-5007T>A)
c.152-5007T>A
c.6242T>A (p.Val2081Glu)
c.6047T>A (p.Val2016Glu)
c.6215T>A (p.Val2072Glu)
16g.89280199C>ACA397151334ANKRD11c.6343G>T (p.Val2115Leu)
c.*6146G>T (n.*6146G>T)
c.745-5008G>T (n.745-5008G>T)
c.152-5008G>T
c.6241G>T (p.Val2081Leu)
c.6046G>T (p.Val2016Leu)
c.6214G>T (p.Val2072Leu)
16g.89280199C=CA2241587238ANKRD11c.6343G= (p.Val2115=)
c.*6146G= (n.*6146G=)
c.745-5008G= (n.745-5008G=)
c.152-5008G=
c.6241G= (p.Val2081=)
c.6046G= (p.Val2016=)
c.6214G= (p.Val2072=)
16g.89280199C>GCA397151335ANKRD11c.6343G>C (p.Val2115Leu)
c.*6146G>C (n.*6146G>C)
c.745-5008G>C (n.745-5008G>C)
c.152-5008G>C
c.6241G>C (p.Val2081Leu)
c.6046G>C (p.Val2016Leu)
c.6214G>C (p.Val2072Leu)
16g.89280199C>TCA8241491ANKRD11c.6343G>A (p.Val2115Met)
c.*6146G>A (n.*6146G>A)
c.745-5008G>A (n.745-5008G>A)
c.152-5008G>A
c.6241G>A (p.Val2081Met)
c.6046G>A (p.Val2016Met)
c.6214G>A (p.Val2072Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280200C>ACA397151336ANKRD11c.6342G>T (p.Gln2114His)
c.*6145G>T (n.*6145G>T)
c.745-5009G>T (n.745-5009G>T)
c.152-5009G>T
c.6240G>T (p.Gln2080His)
c.6045G>T (p.Gln2015His)
c.6213G>T (p.Gln2071His)
16g.89280200C=CA2241587239ANKRD11c.6342G= (p.Gln2114=)
c.*6145G= (n.*6145G=)
c.745-5009G= (n.745-5009G=)
c.152-5009G=
c.6240G= (p.Gln2080=)
c.6045G= (p.Gln2015=)
c.6213G= (p.Gln2071=)
16g.89280200C>GCA397151337ANKRD11c.6342G>C (p.Gln2114His)
c.*6145G>C (n.*6145G>C)
c.745-5009G>C (n.745-5009G>C)
c.152-5009G>C
c.6240G>C (p.Gln2080His)
c.6045G>C (p.Gln2015His)
c.6213G>C (p.Gln2071His)
 gnomAD v4
16g.89280200C>TCA497373392ANKRD11c.6342G>A (p.Gln2114=)
c.*6145G>A (n.*6145G>A)
c.745-5009G>A (n.745-5009G>A)
c.152-5009G>A
c.6240G>A (p.Gln2080=)
c.6045G>A (p.Gln2015=)
c.6213G>A (p.Gln2071=)
 dbSNP gnomAD v4
16g.89280201T>ACA397151340ANKRD11c.6341A>T (p.Gln2114Leu)
c.*6144A>T (n.*6144A>T)
c.745-5010A>T (n.745-5010A>T)
c.152-5010A>T
c.6239A>T (p.Gln2080Leu)
c.6044A>T (p.Gln2015Leu)
c.6212A>T (p.Gln2071Leu)
16g.89280201T>CCA397151338ANKRD11c.6341A>G (p.Gln2114Arg)
c.*6144A>G (n.*6144A>G)
c.745-5010A>G (n.745-5010A>G)
c.152-5010A>G
c.6239A>G (p.Gln2080Arg)
c.6044A>G (p.Gln2015Arg)
c.6212A>G (p.Gln2071Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.89280201T>GCA397151339ANKRD11c.6341A>C (p.Gln2114Pro)
c.*6144A>C (n.*6144A>C)
c.745-5010A>C (n.745-5010A>C)
c.152-5010A>C
c.6239A>C (p.Gln2080Pro)
c.6044A>C (p.Gln2015Pro)
c.6212A>C (p.Gln2071Pro)
16g.89280201T=CA2241587240ANKRD11c.6341A= (p.Gln2114=)
c.*6144A= (n.*6144A=)
c.745-5010A= (n.745-5010A=)
c.152-5010A=
c.6239A= (p.Gln2080=)
c.6044A= (p.Gln2015=)
c.6212A= (p.Gln2071=)
16g.89280202G>ACA397151341ANKRD11c.6340C>T (p.Gln2114Ter)
c.*6143C>T (n.*6143C>T)
c.745-5011C>T (n.745-5011C>T)
c.152-5011C>T
c.6238C>T (p.Gln2080Ter)
c.6043C>T (p.Gln2015Ter)
c.6211C>T (p.Gln2071Ter)
 ClinVar dbSNP
16g.89280202G>CCA397151342ANKRD11c.6340C>G (p.Gln2114Glu)
c.*6143C>G (n.*6143C>G)
c.745-5011C>G (n.745-5011C>G)
c.152-5011C>G
c.6238C>G (p.Gln2080Glu)
c.6043C>G (p.Gln2015Glu)
c.6211C>G (p.Gln2071Glu)
16g.89280202G=CA2241587242ANKRD11c.6340C= (p.Gln2114=)
c.*6143C= (n.*6143C=)
c.745-5011C= (n.745-5011C=)
c.152-5011C=
c.6238C= (p.Gln2080=)
c.6043C= (p.Gln2015=)
c.6211C= (p.Gln2071=)
16g.89280202G>TCA397151343ANKRD11c.6340C>A (p.Gln2114Lys)
c.*6143C>A (n.*6143C>A)
c.745-5011C>A (n.745-5011C>A)
c.152-5011C>A
c.6238C>A (p.Gln2080Lys)
c.6043C>A (p.Gln2015Lys)
c.6211C>A (p.Gln2071Lys)
 gnomAD v4
16g.89280203delCA2843744558ANKRD11c.6340del (p.Gln2114ArgfsTer?)
c.*6143del (n.*6143del)
c.745-5011del (n.745-5011del)
c.152-5011del
c.6238del (p.Gln2080ArgfsTer?)
c.6043del (p.Gln2015ArgfsTer?)
c.6211del (p.Gln2071ArgfsTer?)
16g.89280207_89280221dupCA2241587241ANKRD11c.6326_6340dup (p.Gly2113_Gln2114insLeuSerHisLeuGly)
c.*6129_*6143dup (n.*6129_*6143dup)
c.745-5025_745-5011dup (n.745-5025_745-5011dup)
c.152-5025_152-5011dup
c.6224_6238dup (p.Gly2079_Gln2080insLeuSerHisLeuGly)
c.6029_6043dup (p.Gly2014_Gln2015insLeuSerHisLeuGly)
c.6197_6211dup (p.Gly2070_Gln2071insLeuSerHisLeuGly)
 dbSNP
16g.89280203G>ACA497373400ANKRD11c.6339C>T (p.Gly2113=)
c.*6142C>T (n.*6142C>T)
c.745-5012C>T (n.745-5012C>T)
c.152-5012C>T
c.6237C>T (p.Gly2079=)
c.6042C>T (p.Gly2014=)
c.6210C>T (p.Gly2070=)
 gnomAD v4
16g.89280203G>CCA497373397ANKRD11c.6339C>G (p.Gly2113=)
c.*6142C>G (n.*6142C>G)
c.745-5012C>G (n.745-5012C>G)
c.152-5012C>G
c.6237C>G (p.Gly2079=)
c.6042C>G (p.Gly2014=)
c.6210C>G (p.Gly2070=)
16g.89280203G>TCA497373399ANKRD11c.6339C>A (p.Gly2113=)
c.*6142C>A (n.*6142C>A)
c.745-5012C>A (n.745-5012C>A)
c.152-5012C>A
c.6237C>A (p.Gly2079=)
c.6042C>A (p.Gly2014=)
c.6210C>A (p.Gly2070=)
 gnomAD v4
16g.89280204C>ACA397151344ANKRD11c.6338G>T (p.Gly2113Val)
c.*6141G>T (n.*6141G>T)
c.745-5013G>T (n.745-5013G>T)
c.152-5013G>T
c.6236G>T (p.Gly2079Val)
c.6041G>T (p.Gly2014Val)
c.6209G>T (p.Gly2070Val)
16g.89280204C>GCA397151345ANKRD11c.6338G>C (p.Gly2113Ala)
c.*6141G>C (n.*6141G>C)
c.745-5013G>C (n.745-5013G>C)
c.152-5013G>C
c.6236G>C (p.Gly2079Ala)
c.6041G>C (p.Gly2014Ala)
c.6209G>C (p.Gly2070Ala)
16g.89280204C>TCA397151346ANKRD11c.6338G>A (p.Gly2113Asp)
c.*6141G>A (n.*6141G>A)
c.745-5013G>A (n.745-5013G>A)
c.152-5013G>A
c.6236G>A (p.Gly2079Asp)
c.6041G>A (p.Gly2014Asp)
c.6209G>A (p.Gly2070Asp)
 gnomAD v4
16g.89280205C>ACA397151347ANKRD11c.6337G>T (p.Gly2113Cys)
c.*6140G>T (n.*6140G>T)
c.745-5014G>T (n.745-5014G>T)
c.152-5014G>T
c.6235G>T (p.Gly2079Cys)
c.6040G>T (p.Gly2014Cys)
c.6208G>T (p.Gly2070Cys)
 gnomAD v4
16g.89280205C=CA2241587243ANKRD11c.6337G= (p.Gly2113=)
c.*6140G= (n.*6140G=)
c.745-5014G= (n.745-5014G=)
c.152-5014G=
c.6235G= (p.Gly2079=)
c.6040G= (p.Gly2014=)
c.6208G= (p.Gly2070=)
16g.89280205C>GCA397151348ANKRD11c.6337G>C (p.Gly2113Arg)
c.*6140G>C (n.*6140G>C)
c.745-5014G>C (n.745-5014G>C)
c.152-5014G>C
c.6235G>C (p.Gly2079Arg)
c.6040G>C (p.Gly2014Arg)
c.6208G>C (p.Gly2070Arg)
16g.89280205C>TCA286510362ANKRD11c.6337G>A (p.Gly2113Ser)
c.*6140G>A (n.*6140G>A)
c.745-5014G>A (n.745-5014G>A)
c.152-5014G>A
c.6235G>A (p.Gly2079Ser)
c.6040G>A (p.Gly2014Ser)
c.6208G>A (p.Gly2070Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280206G>ACA8241492ANKRD11c.6336C>T (p.Leu2112=)
c.*6139C>T (n.*6139C>T)
c.745-5015C>T (n.745-5015C>T)
c.152-5015C>T
c.6234C>T (p.Leu2078=)
c.6039C>T (p.Leu2013=)
c.6207C>T (p.Leu2069=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280206G>CCA497373402ANKRD11c.6336C>G (p.Leu2112=)
c.*6139C>G (n.*6139C>G)
c.745-5015C>G (n.745-5015C>G)
c.152-5015C>G
c.6234C>G (p.Leu2078=)
c.6039C>G (p.Leu2013=)
c.6207C>G (p.Leu2069=)
16g.89280206G=CA2241587244ANKRD11c.6336C= (p.Leu2112=)
c.*6139C= (n.*6139C=)
c.745-5015C= (n.745-5015C=)
c.152-5015C=
c.6234C= (p.Leu2078=)
c.6039C= (p.Leu2013=)
c.6207C= (p.Leu2069=)
16g.89280206G>TCA497373403ANKRD11c.6336C>A (p.Leu2112=)
c.*6139C>A (n.*6139C>A)
c.745-5015C>A (n.745-5015C>A)
c.152-5015C>A
c.6234C>A (p.Leu2078=)
c.6039C>A (p.Leu2013=)
c.6207C>A (p.Leu2069=)
 gnomAD v4
16g.89280207A>CCA397151349ANKRD11c.6335T>G (p.Leu2112Arg)
c.*6138T>G (n.*6138T>G)
c.745-5016T>G (n.745-5016T>G)
c.152-5016T>G
c.6233T>G (p.Leu2078Arg)
c.6038T>G (p.Leu2013Arg)
c.6206T>G (p.Leu2069Arg)
16g.89280207A>GCA397151350ANKRD11c.6335T>C (p.Leu2112Pro)
c.*6138T>C (n.*6138T>C)
c.745-5016T>C (n.745-5016T>C)
c.152-5016T>C
c.6233T>C (p.Leu2078Pro)
c.6038T>C (p.Leu2013Pro)
c.6206T>C (p.Leu2069Pro)
 gnomAD v4
16g.89280207A>TCA397151351ANKRD11c.6335T>A (p.Leu2112His)
c.*6138T>A (n.*6138T>A)
c.745-5016T>A (n.745-5016T>A)
c.152-5016T>A
c.6233T>A (p.Leu2078His)
c.6038T>A (p.Leu2013His)
c.6206T>A (p.Leu2069His)
16g.89280208G>ACA397151354ANKRD11c.6334C>T (p.Leu2112Phe)
c.*6137C>T (n.*6137C>T)
c.745-5017C>T (n.745-5017C>T)
c.152-5017C>T
c.6232C>T (p.Leu2078Phe)
c.6037C>T (p.Leu2013Phe)
c.6205C>T (p.Leu2069Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.89280208G>CCA397151352ANKRD11c.6334C>G (p.Leu2112Val)
c.*6137C>G (n.*6137C>G)
c.745-5017C>G (n.745-5017C>G)
c.152-5017C>G
c.6232C>G (p.Leu2078Val)
c.6037C>G (p.Leu2013Val)
c.6205C>G (p.Leu2069Val)
 gnomAD v4
16g.89280208G=CA2241587245ANKRD11c.6334C= (p.Leu2112=)
c.*6137C= (n.*6137C=)
c.745-5017C= (n.745-5017C=)
c.152-5017C=
c.6232C= (p.Leu2078=)
c.6037C= (p.Leu2013=)
c.6205C= (p.Leu2069=)
16g.89280208G>TCA397151353ANKRD11c.6334C>A (p.Leu2112Ile)
c.*6137C>A (n.*6137C>A)
c.745-5017C>A (n.745-5017C>A)
c.152-5017C>A
c.6232C>A (p.Leu2078Ile)
c.6037C>A (p.Leu2013Ile)
c.6205C>A (p.Leu2069Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.89280208_89280209insCCA2508982713ANKRD11c.6333_6334insG (p.Leu2112AlafsTer?)
c.*6136_*6137insG (n.*6136_*6137insG)
c.745-5018_745-5017insG (n.745-5018_745-5017insG)
c.152-5018_152-5017insG
c.6231_6232insG (p.Leu2078AlafsTer?)
c.6036_6037insG (p.Leu2013AlafsTer?)
c.6204_6205insG (p.Leu2069AlafsTer?)
16g.89280209G>ACA8241493ANKRD11c.6333C>T (p.His2111=)
c.*6136C>T (n.*6136C>T)
c.745-5018C>T (n.745-5018C>T)
c.152-5018C>T
c.6231C>T (p.His2077=)
c.6036C>T (p.His2012=)
c.6204C>T (p.His2068=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280209G>CCA397151355ANKRD11c.6333C>G (p.His2111Gln)
c.*6136C>G (n.*6136C>G)
c.745-5018C>G (n.745-5018C>G)
c.152-5018C>G
c.6231C>G (p.His2077Gln)
c.6036C>G (p.His2012Gln)
c.6204C>G (p.His2068Gln)
16g.89280209G=CA2241587246ANKRD11c.6333C= (p.His2111=)
c.*6136C= (n.*6136C=)
c.745-5018C= (n.745-5018C=)
c.152-5018C=
c.6231C= (p.His2077=)
c.6036C= (p.His2012=)
c.6204C= (p.His2068=)
16g.89280209G>TCA397151356ANKRD11c.6333C>A (p.His2111Gln)
c.*6136C>A (n.*6136C>A)
c.745-5018C>A (n.745-5018C>A)
c.152-5018C>A
c.6231C>A (p.His2077Gln)
c.6036C>A (p.His2012Gln)
c.6204C>A (p.His2068Gln)
 gnomAD v4
16g.89280210T>ACA397151357ANKRD11c.6332A>T (p.His2111Leu)
c.*6135A>T (n.*6135A>T)
c.745-5019A>T (n.745-5019A>T)
c.152-5019A>T
c.6230A>T (p.His2077Leu)
c.6035A>T (p.His2012Leu)
c.6203A>T (p.His2068Leu)
 gnomAD v4
16g.89280210T>CCA397151358ANKRD11c.6332A>G (p.His2111Arg)
c.*6135A>G (n.*6135A>G)
c.745-5019A>G (n.745-5019A>G)
c.152-5019A>G
c.6230A>G (p.His2077Arg)
c.6035A>G (p.His2012Arg)
c.6203A>G (p.His2068Arg)
16g.89280210T>GCA397151359ANKRD11c.6332A>C (p.His2111Pro)
c.*6135A>C (n.*6135A>C)
c.745-5019A>C (n.745-5019A>C)
c.152-5019A>C
c.6230A>C (p.His2077Pro)
c.6035A>C (p.His2012Pro)
c.6203A>C (p.His2068Pro)
 gnomAD v4
16g.89280211G>ACA397151360ANKRD11c.6331C>T (p.His2111Tyr)
c.*6134C>T (n.*6134C>T)
c.745-5020C>T (n.745-5020C>T)
c.152-5020C>T
c.6229C>T (p.His2077Tyr)
c.6034C>T (p.His2012Tyr)
c.6202C>T (p.His2068Tyr)
 gnomAD v4
16g.89280211G>CCA397151361ANKRD11c.6331C>G (p.His2111Asp)
c.*6134C>G (n.*6134C>G)
c.745-5020C>G (n.745-5020C>G)
c.152-5020C>G
c.6229C>G (p.His2077Asp)
c.6034C>G (p.His2012Asp)
c.6202C>G (p.His2068Asp)
16g.89280211G>TCA397151362ANKRD11c.6331C>A (p.His2111Asn)
c.*6134C>A (n.*6134C>A)
c.745-5020C>A (n.745-5020C>A)
c.152-5020C>A
c.6229C>A (p.His2077Asn)
c.6034C>A (p.His2012Asn)
c.6202C>A (p.His2068Asn)
 gnomAD v4
16g.89280212delCA2520247214ANKRD11c.6330del (p.His2111ThrfsTer?)
c.*6133del (n.*6133del)
c.745-5021del (n.745-5021del)
c.152-5021del
c.6228del (p.His2077ThrfsTer?)
c.6033del (p.His2012ThrfsTer?)
c.6201del (p.His2068ThrfsTer?)
16g.89280212A=CA2241587247ANKRD11c.6330T= (p.Ser2110=)
c.*6133T= (n.*6133T=)
c.745-5021T= (n.745-5021T=)
c.152-5021T=
c.6228T= (p.Ser2076=)
c.6033T= (p.Ser2011=)
c.6201T= (p.Ser2067=)
16g.89280212A>CCA497373411ANKRD11c.6330T>G (p.Ser2110=)
c.*6133T>G (n.*6133T>G)
c.745-5021T>G (n.745-5021T>G)
c.152-5021T>G
c.6228T>G (p.Ser2076=)
c.6033T>G (p.Ser2011=)
c.6201T>G (p.Ser2067=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280212A>GCA497373412ANKRD11c.6330T>C (p.Ser2110=)
c.*6133T>C (n.*6133T>C)
c.745-5021T>C (n.745-5021T>C)
c.152-5021T>C
c.6228T>C (p.Ser2076=)
c.6033T>C (p.Ser2011=)
c.6201T>C (p.Ser2067=)
 gnomAD v4
16g.89280212A>TCA497373413ANKRD11c.6330T>A (p.Ser2110=)
c.*6133T>A (n.*6133T>A)
c.745-5021T>A (n.745-5021T>A)
c.152-5021T>A
c.6228T>A (p.Ser2076=)
c.6033T>A (p.Ser2011=)
c.6201T>A (p.Ser2067=)
16g.89280213G>ACA397151363ANKRD11c.6329C>T (p.Ser2110Phe)
c.*6132C>T (n.*6132C>T)
c.745-5022C>T (n.745-5022C>T)
c.152-5022C>T
c.6227C>T (p.Ser2076Phe)
c.6032C>T (p.Ser2011Phe)
c.6200C>T (p.Ser2067Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280213G>CCA8241494ANKRD11c.6329C>G (p.Ser2110Cys)
c.*6132C>G (n.*6132C>G)
c.745-5022C>G (n.745-5022C>G)
c.152-5022C>G
c.6227C>G (p.Ser2076Cys)
c.6032C>G (p.Ser2011Cys)
c.6200C>G (p.Ser2067Cys)
 ClinVar dbSNP ExAC gnomAD v4
16g.89280213G=CA2241587248ANKRD11c.6329C= (p.Ser2110=)
c.*6132C= (n.*6132C=)
c.745-5022C= (n.745-5022C=)
c.152-5022C=
c.6227C= (p.Ser2076=)
c.6032C= (p.Ser2011=)
c.6200C= (p.Ser2067=)
16g.89280213G>TCA397151364ANKRD11c.6329C>A (p.Ser2110Tyr)
c.*6132C>A (n.*6132C>A)
c.745-5022C>A (n.745-5022C>A)
c.152-5022C>A
c.6227C>A (p.Ser2076Tyr)
c.6032C>A (p.Ser2011Tyr)
c.6200C>A (p.Ser2067Tyr)
16g.89280214A=CA2241587249ANKRD11c.6328T= (p.Ser2110=)
c.*6131T= (n.*6131T=)
c.745-5023T= (n.745-5023T=)
c.152-5023T=
c.6226T= (p.Ser2076=)
c.6031T= (p.Ser2011=)
c.6199T= (p.Ser2067=)
16g.89280214A>CCA397151367ANKRD11c.6328T>G (p.Ser2110Ala)
c.*6131T>G (n.*6131T>G)
c.745-5023T>G (n.745-5023T>G)
c.152-5023T>G
c.6226T>G (p.Ser2076Ala)
c.6031T>G (p.Ser2011Ala)
c.6199T>G (p.Ser2067Ala)
16g.89280214A>GCA397151365ANKRD11c.6328T>C (p.Ser2110Pro)
c.*6131T>C (n.*6131T>C)
c.745-5023T>C (n.745-5023T>C)
c.152-5023T>C
c.6226T>C (p.Ser2076Pro)
c.6031T>C (p.Ser2011Pro)
c.6199T>C (p.Ser2067Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.89280214A>TCA397151366ANKRD11c.6328T>A (p.Ser2110Thr)
c.*6131T>A (n.*6131T>A)
c.745-5023T>A (n.745-5023T>A)
c.152-5023T>A
c.6226T>A (p.Ser2076Thr)
c.6031T>A (p.Ser2011Thr)
c.6199T>A (p.Ser2067Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.89280215C>ACA497373419ANKRD11c.6327G>T (p.Leu2109=)
c.*6130G>T (n.*6130G>T)
c.745-5024G>T (n.745-5024G>T)
c.152-5024G>T
c.6225G>T (p.Leu2075=)
c.6030G>T (p.Leu2010=)
c.6198G>T (p.Leu2066=)
 gnomAD v4
16g.89280215C=CA2241587250ANKRD11c.6327G= (p.Leu2109=)
c.*6130G= (n.*6130G=)
c.745-5024G= (n.745-5024G=)
c.152-5024G=
c.6225G= (p.Leu2075=)
c.6030G= (p.Leu2010=)
c.6198G= (p.Leu2066=)
16g.89280215C>GCA497373420ANKRD11c.6327G>C (p.Leu2109=)
c.*6130G>C (n.*6130G>C)
c.745-5024G>C (n.745-5024G>C)
c.152-5024G>C
c.6225G>C (p.Leu2075=)
c.6030G>C (p.Leu2010=)
c.6198G>C (p.Leu2066=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280215C>TCA8241495ANKRD11c.6327G>A (p.Leu2109=)
c.*6130G>A (n.*6130G>A)
c.745-5024G>A (n.745-5024G>A)
c.152-5024G>A
c.6225G>A (p.Leu2075=)
c.6030G>A (p.Leu2010=)
c.6198G>A (p.Leu2066=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280216A>CCA397151368ANKRD11c.6326T>G (p.Leu2109Arg)
c.*6129T>G (n.*6129T>G)
c.745-5025T>G (n.745-5025T>G)
c.152-5025T>G
c.6224T>G (p.Leu2075Arg)
c.6029T>G (p.Leu2010Arg)
c.6197T>G (p.Leu2066Arg)
16g.89280216A>GCA397151369ANKRD11c.6326T>C (p.Leu2109Pro)
c.*6129T>C (n.*6129T>C)
c.745-5025T>C (n.745-5025T>C)
c.152-5025T>C
c.6224T>C (p.Leu2075Pro)
c.6029T>C (p.Leu2010Pro)
c.6197T>C (p.Leu2066Pro)
16g.89280216A>TCA397151370ANKRD11c.6326T>A (p.Leu2109Gln)
c.*6129T>A (n.*6129T>A)
c.745-5025T>A (n.745-5025T>A)
c.152-5025T>A
c.6224T>A (p.Leu2075Gln)
c.6029T>A (p.Leu2010Gln)
c.6197T>A (p.Leu2066Gln)
16g.89280217G>ACA497373422ANKRD11c.6325C>T (p.Leu2109=)
c.*6128C>T (n.*6128C>T)
c.745-5026C>T (n.745-5026C>T)
c.152-5026C>T
c.6223C>T (p.Leu2075=)
c.6028C>T (p.Leu2010=)
c.6196C>T (p.Leu2066=)
 gnomAD v4
16g.89280217G>CCA397151371ANKRD11c.6325C>G (p.Leu2109Val)
c.*6128C>G (n.*6128C>G)
c.745-5026C>G (n.745-5026C>G)
c.152-5026C>G
c.6223C>G (p.Leu2075Val)
c.6028C>G (p.Leu2010Val)
c.6196C>G (p.Leu2066Val)
 gnomAD v4
16g.89280217G>TCA397151372ANKRD11c.6325C>A (p.Leu2109Met)
c.*6128C>A (n.*6128C>A)
c.745-5026C>A (n.745-5026C>A)
c.152-5026C>A
c.6223C>A (p.Leu2075Met)
c.6028C>A (p.Leu2010Met)
c.6196C>A (p.Leu2066Met)
 gnomAD v4
16g.89280218G>ACA8241496ANKRD11c.6324C>T (p.Gly2108=)
c.*6127C>T (n.*6127C>T)
c.745-5027C>T (n.745-5027C>T)
c.152-5027C>T
c.6222C>T (p.Gly2074=)
c.6027C>T (p.Gly2009=)
c.6195C>T (p.Gly2065=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280218G>CCA497373425ANKRD11c.6324C>G (p.Gly2108=)
c.*6127C>G (n.*6127C>G)
c.745-5027C>G (n.745-5027C>G)
c.152-5027C>G
c.6222C>G (p.Gly2074=)
c.6027C>G (p.Gly2009=)
c.6195C>G (p.Gly2065=)
16g.89280218G=CA2241587251ANKRD11c.6324C= (p.Gly2108=)
c.*6127C= (n.*6127C=)
c.745-5027C= (n.745-5027C=)
c.152-5027C=
c.6222C= (p.Gly2074=)
c.6027C= (p.Gly2009=)
c.6195C= (p.Gly2065=)
16g.89280218G>TCA497373426ANKRD11c.6324C>A (p.Gly2108=)
c.*6127C>A (n.*6127C>A)
c.745-5027C>A (n.745-5027C>A)
c.152-5027C>A
c.6222C>A (p.Gly2074=)
c.6027C>A (p.Gly2009=)
c.6195C>A (p.Gly2065=)
 gnomAD v4
16g.89280219C>ACA397151373ANKRD11c.6323G>T (p.Gly2108Val)
c.*6126G>T (n.*6126G>T)
c.745-5028G>T (n.745-5028G>T)
c.152-5028G>T
c.6221G>T (p.Gly2074Val)
c.6026G>T (p.Gly2009Val)
c.6194G>T (p.Gly2065Val)
16g.89280219C=CA2241587252ANKRD11c.6323G= (p.Gly2108=)
c.*6126G= (n.*6126G=)
c.745-5028G= (n.745-5028G=)
c.152-5028G=
c.6221G= (p.Gly2074=)
c.6026G= (p.Gly2009=)
c.6194G= (p.Gly2065=)
16g.89280219C>GCA397151374ANKRD11c.6323G>C (p.Gly2108Ala)
c.*6126G>C (n.*6126G>C)
c.745-5028G>C (n.745-5028G>C)
c.152-5028G>C
c.6221G>C (p.Gly2074Ala)
c.6026G>C (p.Gly2009Ala)
c.6194G>C (p.Gly2065Ala)
16g.89280219C>TCA249133ANKRD11c.6323G>A (p.Gly2108Asp)
c.*6126G>A (n.*6126G>A)
c.745-5028G>A (n.745-5028G>A)
c.152-5028G>A
c.6221G>A (p.Gly2074Asp)
c.6026G>A (p.Gly2009Asp)
c.6194G>A (p.Gly2065Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280220C>ACA397151375ANKRD11c.6322G>T (p.Gly2108Cys)
c.*6125G>T (n.*6125G>T)
c.745-5029G>T (n.745-5029G>T)
c.152-5029G>T
c.6220G>T (p.Gly2074Cys)
c.6025G>T (p.Gly2009Cys)
c.6193G>T (p.Gly2065Cys)
16g.89280220C>GCA397151376ANKRD11c.6322G>C (p.Gly2108Arg)
c.*6125G>C (n.*6125G>C)
c.745-5029G>C (n.745-5029G>C)
c.152-5029G>C
c.6220G>C (p.Gly2074Arg)
c.6025G>C (p.Gly2009Arg)
c.6193G>C (p.Gly2065Arg)
16g.89280220C>TCA397151377ANKRD11c.6322G>A (p.Gly2108Ser)
c.*6125G>A (n.*6125G>A)
c.745-5029G>A (n.745-5029G>A)
c.152-5029G>A
c.6220G>A (p.Gly2074Ser)
c.6025G>A (p.Gly2009Ser)
c.6193G>A (p.Gly2065Ser)
 COSMIC
16g.89280221G>ACA8241497ANKRD11c.6321C>T (p.Arg2107=)
c.*6124C>T (n.*6124C>T)
c.745-5030C>T (n.745-5030C>T)
c.152-5030C>T
c.6219C>T (p.Arg2073=)
c.6024C>T (p.Arg2008=)
c.6192C>T (p.Arg2064=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280221G>CCA497373427ANKRD11c.6321C>G (p.Arg2107=)
c.*6124C>G (n.*6124C>G)
c.745-5030C>G (n.745-5030C>G)
c.152-5030C>G
c.6219C>G (p.Arg2073=)
c.6024C>G (p.Arg2008=)
c.6192C>G (p.Arg2064=)
16g.89280221G=CA2241587253ANKRD11c.6321C= (p.Arg2107=)
c.*6124C= (n.*6124C=)
c.745-5030C= (n.745-5030C=)
c.152-5030C=
c.6219C= (p.Arg2073=)
c.6024C= (p.Arg2008=)
c.6192C= (p.Arg2064=)
16g.89280221G>TCA497373428ANKRD11c.6321C>A (p.Arg2107=)
c.*6124C>A (n.*6124C>A)
c.745-5030C>A (n.745-5030C>A)
c.152-5030C>A
c.6219C>A (p.Arg2073=)
c.6024C>A (p.Arg2008=)
c.6192C>A (p.Arg2064=)
16g.89280222C>ACA397151380ANKRD11c.6320G>T (p.Arg2107Leu)
c.*6123G>T (n.*6123G>T)
c.745-5031G>T (n.745-5031G>T)
c.152-5031G>T
c.6218G>T (p.Arg2073Leu)
c.6023G>T (p.Arg2008Leu)
c.6191G>T (p.Arg2064Leu)
16g.89280222C=CA2241587254ANKRD11c.6320G= (p.Arg2107=)
c.*6123G= (n.*6123G=)
c.745-5031G= (n.745-5031G=)
c.152-5031G=
c.6218G= (p.Arg2073=)
c.6023G= (p.Arg2008=)
c.6191G= (p.Arg2064=)
16g.89280222C>GCA397151378ANKRD11c.6320G>C (p.Arg2107Pro)
c.*6123G>C (n.*6123G>C)
c.745-5031G>C (n.745-5031G>C)
c.152-5031G>C
c.6218G>C (p.Arg2073Pro)
c.6023G>C (p.Arg2008Pro)
c.6191G>C (p.Arg2064Pro)
 gnomAD v4
16g.89280222C>TCA397151379ANKRD11c.6320G>A (p.Arg2107His)
c.*6123G>A (n.*6123G>A)
c.745-5031G>A (n.745-5031G>A)
c.152-5031G>A
c.6218G>A (p.Arg2073His)
c.6023G>A (p.Arg2008His)
c.6191G>A (p.Arg2064His)
 dbSNP gnomAD v3 gnomAD v4
16g.89280222dupCA2573152762ANKRD11c.6320dup (p.Gly2108ArgfsTer?)
c.*6123dup (n.*6123dup)
c.745-5031dup (n.745-5031dup)
c.152-5031dup
c.6218dup (p.Gly2074ArgfsTer?)
c.6023dup (p.Gly2009ArgfsTer?)
c.6191dup (p.Gly2065ArgfsTer?)
 ClinVar dbSNP
16g.89280223G>ACA8241498ANKRD11c.6319C>T (p.Arg2107Cys)
c.*6122C>T (n.*6122C>T)
c.745-5032C>T (n.745-5032C>T)
c.152-5032C>T
c.6217C>T (p.Arg2073Cys)
c.6022C>T (p.Arg2008Cys)
c.6190C>T (p.Arg2064Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280223G>CCA397151381ANKRD11c.6319C>G (p.Arg2107Gly)
c.*6122C>G (n.*6122C>G)
c.745-5032C>G (n.745-5032C>G)
c.152-5032C>G
c.6217C>G (p.Arg2073Gly)
c.6022C>G (p.Arg2008Gly)
c.6190C>G (p.Arg2064Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.89280223G=CA2241587255ANKRD11c.6319C= (p.Arg2107=)
c.*6122C= (n.*6122C=)
c.745-5032C= (n.745-5032C=)
c.152-5032C=
c.6217C= (p.Arg2073=)
c.6022C= (p.Arg2008=)
c.6190C= (p.Arg2064=)
16g.89280223G>TCA397151382ANKRD11c.6319C>A (p.Arg2107Ser)
c.*6122C>A (n.*6122C>A)
c.745-5032C>A (n.745-5032C>A)
c.152-5032C>A
c.6217C>A (p.Arg2073Ser)
c.6022C>A (p.Arg2008Ser)
c.6190C>A (p.Arg2064Ser)
 gnomAD v4
16g.89280224G>ACA497373432ANKRD11c.6318C>T (p.Ser2106=)
c.*6121C>T (n.*6121C>T)
c.745-5033C>T (n.745-5033C>T)
c.152-5033C>T
c.6216C>T (p.Ser2072=)
c.6021C>T (p.Ser2007=)
c.6189C>T (p.Ser2063=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280224G>CCA397151383ANKRD11c.6318C>G (p.Ser2106Arg)
c.*6121C>G (n.*6121C>G)
c.745-5033C>G (n.745-5033C>G)
c.152-5033C>G
c.6216C>G (p.Ser2072Arg)
c.6021C>G (p.Ser2007Arg)
c.6189C>G (p.Ser2063Arg)
 dbSNP gnomAD v4
16g.89280224G=CA2241587256ANKRD11c.6318C= (p.Ser2106=)
c.*6121C= (n.*6121C=)
c.745-5033C= (n.745-5033C=)
c.152-5033C=
c.6216C= (p.Ser2072=)
c.6021C= (p.Ser2007=)
c.6189C= (p.Ser2063=)
16g.89280224G>TCA397151384ANKRD11c.6318C>A (p.Ser2106Arg)
c.*6121C>A (n.*6121C>A)
c.745-5033C>A (n.745-5033C>A)
c.152-5033C>A
c.6216C>A (p.Ser2072Arg)
c.6021C>A (p.Ser2007Arg)
c.6189C>A (p.Ser2063Arg)
 gnomAD v4
16g.89280225C>ACA397151385ANKRD11c.6317G>T (p.Ser2106Ile)
c.*6120G>T (n.*6120G>T)
c.745-5034G>T (n.745-5034G>T)
c.152-5034G>T
c.6215G>T (p.Ser2072Ile)
c.6020G>T (p.Ser2007Ile)
c.6188G>T (p.Ser2063Ile)
16g.89280225C>GCA397151386ANKRD11c.6317G>C (p.Ser2106Thr)
c.*6120G>C (n.*6120G>C)
c.745-5034G>C (n.745-5034G>C)
c.152-5034G>C
c.6215G>C (p.Ser2072Thr)
c.6020G>C (p.Ser2007Thr)
c.6188G>C (p.Ser2063Thr)
16g.89280225C>TCA397151387ANKRD11c.6317G>A (p.Ser2106Asn)
c.*6120G>A (n.*6120G>A)
c.745-5034G>A (n.745-5034G>A)
c.152-5034G>A
c.6215G>A (p.Ser2072Asn)
c.6020G>A (p.Ser2007Asn)
c.6188G>A (p.Ser2063Asn)
16g.89280226T>ACA397151388ANKRD11c.6316A>T (p.Ser2106Cys)
c.*6119A>T (n.*6119A>T)
c.745-5035A>T (n.745-5035A>T)
c.152-5035A>T
c.6214A>T (p.Ser2072Cys)
c.6019A>T (p.Ser2007Cys)
c.6187A>T (p.Ser2063Cys)
16g.89280226T>CCA397151389ANKRD11c.6316A>G (p.Ser2106Gly)
c.*6119A>G (n.*6119A>G)
c.745-5035A>G (n.745-5035A>G)
c.152-5035A>G
c.6214A>G (p.Ser2072Gly)
c.6019A>G (p.Ser2007Gly)
c.6187A>G (p.Ser2063Gly)
16g.89280226T>GCA397151390ANKRD11c.6316A>C (p.Ser2106Arg)
c.*6119A>C (n.*6119A>C)
c.745-5035A>C (n.745-5035A>C)
c.152-5035A>C
c.6214A>C (p.Ser2072Arg)
c.6019A>C (p.Ser2007Arg)
c.6187A>C (p.Ser2063Arg)
16g.89280227G>ACA8241499ANKRD11c.6315C>T (p.Gly2105=)
c.*6118C>T (n.*6118C>T)
c.745-5036C>T (n.745-5036C>T)
c.152-5036C>T
c.6213C>T (p.Gly2071=)
c.6018C>T (p.Gly2006=)
c.6186C>T (p.Gly2062=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280227G>CCA497373439ANKRD11c.6315C>G (p.Gly2105=)
c.*6118C>G (n.*6118C>G)
c.745-5036C>G (n.745-5036C>G)
c.152-5036C>G
c.6213C>G (p.Gly2071=)
c.6018C>G (p.Gly2006=)
c.6186C>G (p.Gly2062=)
16g.89280227G=CA2241587257ANKRD11c.6315C= (p.Gly2105=)
c.*6118C= (n.*6118C=)
c.745-5036C= (n.745-5036C=)
c.152-5036C=
c.6213C= (p.Gly2071=)
c.6018C= (p.Gly2006=)
c.6186C= (p.Gly2062=)
16g.89280227G>TCA497373441ANKRD11c.6315C>A (p.Gly2105=)
c.*6118C>A (n.*6118C>A)
c.745-5036C>A (n.745-5036C>A)
c.152-5036C>A
c.6213C>A (p.Gly2071=)
c.6018C>A (p.Gly2006=)
c.6186C>A (p.Gly2062=)
 dbSNP gnomAD v2
16g.89280228C>ACA397151393ANKRD11c.6314G>T (p.Gly2105Val)
c.*6117G>T (n.*6117G>T)
c.745-5037G>T (n.745-5037G>T)
c.152-5037G>T
c.6212G>T (p.Gly2071Val)
c.6017G>T (p.Gly2006Val)
c.6185G>T (p.Gly2062Val)
16g.89280228C>GCA397151391ANKRD11c.6314G>C (p.Gly2105Ala)
c.*6117G>C (n.*6117G>C)
c.745-5037G>C (n.745-5037G>C)
c.152-5037G>C
c.6212G>C (p.Gly2071Ala)
c.6017G>C (p.Gly2006Ala)
c.6185G>C (p.Gly2062Ala)
16g.89280228C>TCA397151392ANKRD11c.6314G>A (p.Gly2105Asp)
c.*6117G>A (n.*6117G>A)
c.745-5037G>A (n.745-5037G>A)
c.152-5037G>A
c.6212G>A (p.Gly2071Asp)
c.6017G>A (p.Gly2006Asp)
c.6185G>A (p.Gly2062Asp)
 gnomAD v4
16g.89280229C>ACA397151394ANKRD11c.6313G>T (p.Gly2105Cys)
c.*6116G>T (n.*6116G>T)
c.745-5038G>T (n.745-5038G>T)
c.152-5038G>T
c.6211G>T (p.Gly2071Cys)
c.6016G>T (p.Gly2006Cys)
c.6184G>T (p.Gly2062Cys)
16g.89280229C=CA2241587258ANKRD11c.6313G= (p.Gly2105=)
c.*6116G= (n.*6116G=)
c.745-5038G= (n.745-5038G=)
c.152-5038G=
c.6211G= (p.Gly2071=)
c.6016G= (p.Gly2006=)
c.6184G= (p.Gly2062=)
16g.89280229C>GCA397151395ANKRD11c.6313G>C (p.Gly2105Arg)
c.*6116G>C (n.*6116G>C)
c.745-5038G>C (n.745-5038G>C)
c.152-5038G>C
c.6211G>C (p.Gly2071Arg)
c.6016G>C (p.Gly2006Arg)
c.6184G>C (p.Gly2062Arg)
 gnomAD v4
16g.89280229C>TCA8241500ANKRD11c.6313G>A (p.Gly2105Ser)
c.*6116G>A (n.*6116G>A)
c.745-5038G>A (n.745-5038G>A)
c.152-5038G>A
c.6211G>A (p.Gly2071Ser)
c.6016G>A (p.Gly2006Ser)
c.6184G>A (p.Gly2062Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280230G>ACA8241501ANKRD11c.6312C>T (p.Asp2104=)
c.*6115C>T (n.*6115C>T)
c.745-5039C>T (n.745-5039C>T)
c.152-5039C>T
c.6210C>T (p.Asp2070=)
c.6015C>T (p.Asp2005=)
c.6183C>T (p.Asp2061=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280230G>CCA397151396ANKRD11c.6312C>G (p.Asp2104Glu)
c.*6115C>G (n.*6115C>G)
c.745-5039C>G (n.745-5039C>G)
c.152-5039C>G
c.6210C>G (p.Asp2070Glu)
c.6015C>G (p.Asp2005Glu)
c.6183C>G (p.Asp2061Glu)
16g.89280230G=CA2241587259ANKRD11c.6312C= (p.Asp2104=)
c.*6115C= (n.*6115C=)
c.745-5039C= (n.745-5039C=)
c.152-5039C=
c.6210C= (p.Asp2070=)
c.6015C= (p.Asp2005=)
c.6183C= (p.Asp2061=)
16g.89280230G>TCA397151397ANKRD11c.6312C>A (p.Asp2104Glu)
c.*6115C>A (n.*6115C>A)
c.745-5039C>A (n.745-5039C>A)
c.152-5039C>A
c.6210C>A (p.Asp2070Glu)
c.6015C>A (p.Asp2005Glu)
c.6183C>A (p.Asp2061Glu)
 gnomAD v4
16g.89280231T>ACA397151398ANKRD11c.6311A>T (p.Asp2104Val)
c.*6114A>T (n.*6114A>T)
c.745-5040A>T (n.745-5040A>T)
c.152-5040A>T
c.6209A>T (p.Asp2070Val)
c.6014A>T (p.Asp2005Val)
c.6182A>T (p.Asp2061Val)
16g.89280231T>CCA397151399ANKRD11c.6311A>G (p.Asp2104Gly)
c.*6114A>G (n.*6114A>G)
c.745-5040A>G (n.745-5040A>G)
c.152-5040A>G
c.6209A>G (p.Asp2070Gly)
c.6014A>G (p.Asp2005Gly)
c.6182A>G (p.Asp2061Gly)
 dbSNP
16g.89280231T>GCA397151400ANKRD11c.6311A>C (p.Asp2104Ala)
c.*6114A>C (n.*6114A>C)
c.745-5040A>C (n.745-5040A>C)
c.152-5040A>C
c.6209A>C (p.Asp2070Ala)
c.6014A>C (p.Asp2005Ala)
c.6182A>C (p.Asp2061Ala)
16g.89280232C>ACA397151401ANKRD11c.6310G>T (p.Asp2104Tyr)
c.*6113G>T (n.*6113G>T)
c.745-5041G>T (n.745-5041G>T)
c.152-5041G>T
c.6208G>T (p.Asp2070Tyr)
c.6013G>T (p.Asp2005Tyr)
c.6181G>T (p.Asp2061Tyr)
 dbSNP gnomAD v3 gnomAD v4
16g.89280232C=CA2241587260ANKRD11c.6310G= (p.Asp2104=)
c.*6113G= (n.*6113G=)
c.745-5041G= (n.745-5041G=)
c.152-5041G=
c.6208G= (p.Asp2070=)
c.6013G= (p.Asp2005=)
c.6181G= (p.Asp2061=)
16g.89280232C>GCA397151402ANKRD11c.6310G>C (p.Asp2104His)
c.*6113G>C (n.*6113G>C)
c.745-5041G>C (n.745-5041G>C)
c.152-5041G>C
c.6208G>C (p.Asp2070His)
c.6013G>C (p.Asp2005His)
c.6181G>C (p.Asp2061His)
16g.89280232C>TCA397151403ANKRD11c.6310G>A (p.Asp2104Asn)
c.*6113G>A (n.*6113G>A)
c.745-5041G>A (n.745-5041G>A)
c.152-5041G>A
c.6208G>A (p.Asp2070Asn)
c.6013G>A (p.Asp2005Asn)
c.6181G>A (p.Asp2061Asn)
 gnomAD v4
16g.89280233C>ACA497373446ANKRD11c.6309G>T (p.Leu2103=)
c.*6112G>T (n.*6112G>T)
c.745-5042G>T (n.745-5042G>T)
c.152-5042G>T
c.6207G>T (p.Leu2069=)
c.6012G>T (p.Leu2004=)
c.6180G>T (p.Leu2060=)
16g.89280233C=CA2241587261ANKRD11c.6309G= (p.Leu2103=)
c.*6112G= (n.*6112G=)
c.745-5042G= (n.745-5042G=)
c.152-5042G=
c.6207G= (p.Leu2069=)
c.6012G= (p.Leu2004=)
c.6180G= (p.Leu2060=)
16g.89280233C>GCA497373447ANKRD11c.6309G>C (p.Leu2103=)
c.*6112G>C (n.*6112G>C)
c.745-5042G>C (n.745-5042G>C)
c.152-5042G>C
c.6207G>C (p.Leu2069=)
c.6012G>C (p.Leu2004=)
c.6180G>C (p.Leu2060=)
16g.89280233C>TCA497373449ANKRD11c.6309G>A (p.Leu2103=)
c.*6112G>A (n.*6112G>A)
c.745-5042G>A (n.745-5042G>A)
c.152-5042G>A
c.6207G>A (p.Leu2069=)
c.6012G>A (p.Leu2004=)
c.6180G>A (p.Leu2060=)
 dbSNP gnomAD v2
16g.89280234A=CA2241587262ANKRD11c.6308T= (p.Leu2103=)
c.*6111T= (n.*6111T=)
c.745-5043T= (n.745-5043T=)
c.152-5043T=
c.6206T= (p.Leu2069=)
c.6011T= (p.Leu2004=)
c.6179T= (p.Leu2060=)
16g.89280234A>CCA397151406ANKRD11c.6308T>G (p.Leu2103Arg)
c.*6111T>G (n.*6111T>G)
c.745-5043T>G (n.745-5043T>G)
c.152-5043T>G
c.6206T>G (p.Leu2069Arg)
c.6011T>G (p.Leu2004Arg)
c.6179T>G (p.Leu2060Arg)
16g.89280234A>GCA397151405ANKRD11c.6308T>C (p.Leu2103Pro)
c.*6111T>C (n.*6111T>C)
c.745-5043T>C (n.745-5043T>C)
c.152-5043T>C
c.6206T>C (p.Leu2069Pro)
c.6011T>C (p.Leu2004Pro)
c.6179T>C (p.Leu2060Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280234A>TCA397151404ANKRD11c.6308T>A (p.Leu2103Gln)
c.*6111T>A (n.*6111T>A)
c.745-5043T>A (n.745-5043T>A)
c.152-5043T>A
c.6206T>A (p.Leu2069Gln)
c.6011T>A (p.Leu2004Gln)
c.6179T>A (p.Leu2060Gln)
16g.89280235G>ACA497373451ANKRD11c.6307C>T (p.Leu2103=)
c.*6110C>T (n.*6110C>T)
c.745-5044C>T (n.745-5044C>T)
c.152-5044C>T
c.6205C>T (p.Leu2069=)
c.6010C>T (p.Leu2004=)
c.6178C>T (p.Leu2060=)
 dbSNP gnomAD v4 COSMIC
16g.89280235G>CCA8241502ANKRD11c.6307C>G (p.Leu2103Val)
c.*6110C>G (n.*6110C>G)
c.745-5044C>G (n.745-5044C>G)
c.152-5044C>G
c.6205C>G (p.Leu2069Val)
c.6010C>G (p.Leu2004Val)
c.6178C>G (p.Leu2060Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280235G=CA2241587263ANKRD11c.6307C= (p.Leu2103=)
c.*6110C= (n.*6110C=)
c.745-5044C= (n.745-5044C=)
c.152-5044C=
c.6205C= (p.Leu2069=)
c.6010C= (p.Leu2004=)
c.6178C= (p.Leu2060=)
16g.89280235G>TCA397151407ANKRD11c.6307C>A (p.Leu2103Met)
c.*6110C>A (n.*6110C>A)
c.745-5044C>A (n.745-5044C>A)
c.152-5044C>A
c.6205C>A (p.Leu2069Met)
c.6010C>A (p.Leu2004Met)
c.6178C>A (p.Leu2060Met)
 gnomAD v4
16g.89280236G>ACA8241503ANKRD11c.6306C>T (p.Phe2102=)
c.*6109C>T (n.*6109C>T)
c.745-5045C>T (n.745-5045C>T)
c.152-5045C>T
c.6204C>T (p.Phe2068=)
c.6009C>T (p.Phe2003=)
c.6177C>T (p.Phe2059=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280236G>CCA397151408ANKRD11c.6306C>G (p.Phe2102Leu)
c.*6109C>G (n.*6109C>G)
c.745-5045C>G (n.745-5045C>G)
c.152-5045C>G
c.6204C>G (p.Phe2068Leu)
c.6009C>G (p.Phe2003Leu)
c.6177C>G (p.Phe2059Leu)
16g.89280236G=CA2241587264ANKRD11c.6306C= (p.Phe2102=)
c.*6109C= (n.*6109C=)
c.745-5045C= (n.745-5045C=)
c.152-5045C=
c.6204C= (p.Phe2068=)
c.6009C= (p.Phe2003=)
c.6177C= (p.Phe2059=)
16g.89280236G>TCA397151409ANKRD11c.6306C>A (p.Phe2102Leu)
c.*6109C>A (n.*6109C>A)
c.745-5045C>A (n.745-5045C>A)
c.152-5045C>A
c.6204C>A (p.Phe2068Leu)
c.6009C>A (p.Phe2003Leu)
c.6177C>A (p.Phe2059Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280237A=CA2241587265ANKRD11c.6305T= (p.Phe2102=)
c.*6108T= (n.*6108T=)
c.745-5046T= (n.745-5046T=)
c.152-5046T=
c.6203T= (p.Phe2068=)
c.6008T= (p.Phe2003=)
c.6176T= (p.Phe2059=)
16g.89280237A>CCA397151410ANKRD11c.6305T>G (p.Phe2102Cys)
c.*6108T>G (n.*6108T>G)
c.745-5046T>G (n.745-5046T>G)
c.152-5046T>G
c.6203T>G (p.Phe2068Cys)
c.6008T>G (p.Phe2003Cys)
c.6176T>G (p.Phe2059Cys)
16g.89280237A>GCA397151411ANKRD11c.6305T>C (p.Phe2102Ser)
c.*6108T>C (n.*6108T>C)
c.745-5046T>C (n.745-5046T>C)
c.152-5046T>C
c.6203T>C (p.Phe2068Ser)
c.6008T>C (p.Phe2003Ser)
c.6176T>C (p.Phe2059Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89280237A>TCA397151412ANKRD11c.6305T>A (p.Phe2102Tyr)
c.*6108T>A (n.*6108T>A)
c.745-5046T>A (n.745-5046T>A)
c.152-5046T>A
c.6203T>A (p.Phe2068Tyr)
c.6008T>A (p.Phe2003Tyr)
c.6176T>A (p.Phe2059Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280238A=CA2241587266ANKRD11c.6304T= (p.Phe2102=)
c.*6107T= (n.*6107T=)
c.745-5047T= (n.745-5047T=)
c.152-5047T=
c.6202T= (p.Phe2068=)
c.6007T= (p.Phe2003=)
c.6175T= (p.Phe2059=)
16g.89280238A>CCA397151413ANKRD11c.6304T>G (p.Phe2102Val)
c.*6107T>G (n.*6107T>G)
c.745-5047T>G (n.745-5047T>G)
c.152-5047T>G
c.6202T>G (p.Phe2068Val)
c.6007T>G (p.Phe2003Val)
c.6175T>G (p.Phe2059Val)
16g.89280238A>GCA397151414ANKRD11c.6304T>C (p.Phe2102Leu)
c.*6107T>C (n.*6107T>C)
c.745-5047T>C (n.745-5047T>C)
c.152-5047T>C
c.6202T>C (p.Phe2068Leu)
c.6007T>C (p.Phe2003Leu)
c.6175T>C (p.Phe2059Leu)
 dbSNP gnomAD v4
16g.89280238A>TCA397151415ANKRD11c.6304T>A (p.Phe2102Ile)
c.*6107T>A (n.*6107T>A)
c.745-5047T>A (n.745-5047T>A)
c.152-5047T>A
c.6202T>A (p.Phe2068Ile)
c.6007T>A (p.Phe2003Ile)
c.6175T>A (p.Phe2059Ile)
16g.89280239G>ACA497373455ANKRD11c.6303C>T (p.Ser2101=)
c.*6106C>T (n.*6106C>T)
c.745-5048C>T (n.745-5048C>T)
c.152-5048C>T
c.6201C>T (p.Ser2067=)
c.6006C>T (p.Ser2002=)
c.6174C>T (p.Ser2058=)
16g.89280239G>CCA397151416ANKRD11c.6303C>G (p.Ser2101Arg)
c.*6106C>G (n.*6106C>G)
c.745-5048C>G (n.745-5048C>G)
c.152-5048C>G
c.6201C>G (p.Ser2067Arg)
c.6006C>G (p.Ser2002Arg)
c.6174C>G (p.Ser2058Arg)
16g.89280239G>TCA397151417ANKRD11c.6303C>A (p.Ser2101Arg)
c.*6106C>A (n.*6106C>A)
c.745-5048C>A (n.745-5048C>A)
c.152-5048C>A
c.6201C>A (p.Ser2067Arg)
c.6006C>A (p.Ser2002Arg)
c.6174C>A (p.Ser2058Arg)
 gnomAD v4
16g.89280240C>ACA397151418ANKRD11c.6302G>T (p.Ser2101Ile)
c.*6105G>T (n.*6105G>T)
c.745-5049G>T (n.745-5049G>T)
c.152-5049G>T
c.6200G>T (p.Ser2067Ile)
c.6005G>T (p.Ser2002Ile)
c.6173G>T (p.Ser2058Ile)
 ClinVar gnomAD v4
16g.89280240C=CA2241587267ANKRD11c.6302G= (p.Ser2101=)
c.*6105G= (n.*6105G=)
c.745-5049G= (n.745-5049G=)
c.152-5049G=
c.6200G= (p.Ser2067=)
c.6005G= (p.Ser2002=)
c.6173G= (p.Ser2058=)
16g.89280240C>GCA397151419ANKRD11c.6302G>C (p.Ser2101Thr)
c.*6105G>C (n.*6105G>C)
c.745-5049G>C (n.745-5049G>C)
c.152-5049G>C
c.6200G>C (p.Ser2067Thr)
c.6005G>C (p.Ser2002Thr)
c.6173G>C (p.Ser2058Thr)
 gnomAD v4
16g.89280240C>TCA8241504ANKRD11c.6302G>A (p.Ser2101Asn)
c.*6105G>A (n.*6105G>A)
c.745-5049G>A (n.745-5049G>A)
c.152-5049G>A
c.6200G>A (p.Ser2067Asn)
c.6005G>A (p.Ser2002Asn)
c.6173G>A (p.Ser2058Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280241T>ACA397151420ANKRD11c.6301A>T (p.Ser2101Cys)
c.*6104A>T (n.*6104A>T)
c.745-5050A>T (n.745-5050A>T)
c.152-5050A>T
c.6199A>T (p.Ser2067Cys)
c.6004A>T (p.Ser2002Cys)
c.6172A>T (p.Ser2058Cys)
16g.89280241T>CCA397151422ANKRD11c.6301A>G (p.Ser2101Gly)
c.*6104A>G (n.*6104A>G)
c.745-5050A>G (n.745-5050A>G)
c.152-5050A>G
c.6199A>G (p.Ser2067Gly)
c.6004A>G (p.Ser2002Gly)
c.6172A>G (p.Ser2058Gly)
16g.89280241T>GCA397151421ANKRD11c.6301A>C (p.Ser2101Arg)
c.*6104A>C (n.*6104A>C)
c.745-5050A>C (n.745-5050A>C)
c.152-5050A>C
c.6199A>C (p.Ser2067Arg)
c.6004A>C (p.Ser2002Arg)
c.6172A>C (p.Ser2058Arg)
16g.89280242A=CA2241587268ANKRD11c.6300T= (p.Asn2100=)
c.*6103T= (n.*6103T=)
c.745-5051T= (n.745-5051T=)
c.152-5051T=
c.6198T= (p.Asn2066=)
c.6003T= (p.Asn2001=)
c.6171T= (p.Asn2057=)
16g.89280242A>CCA397151423ANKRD11c.6300T>G (p.Asn2100Lys)
c.*6103T>G (n.*6103T>G)
c.745-5051T>G (n.745-5051T>G)
c.152-5051T>G
c.6198T>G (p.Asn2066Lys)
c.6003T>G (p.Asn2001Lys)
c.6171T>G (p.Asn2057Lys)
16g.89280242A>GCA497373457ANKRD11c.6300T>C (p.Asn2100=)
c.*6103T>C (n.*6103T>C)
c.745-5051T>C (n.745-5051T>C)
c.152-5051T>C
c.6198T>C (p.Asn2066=)
c.6003T>C (p.Asn2001=)
c.6171T>C (p.Asn2057=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280242A>TCA397151424ANKRD11c.6300T>A (p.Asn2100Lys)
c.*6103T>A (n.*6103T>A)
c.745-5051T>A (n.745-5051T>A)
c.152-5051T>A
c.6198T>A (p.Asn2066Lys)
c.6003T>A (p.Asn2001Lys)
c.6171T>A (p.Asn2057Lys)
16g.89280242_89280243insCAGGAAACTACCGAGCCACCACATTTCTCCCA2241587270ANKRD11c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2100delinsLysGluLysCysGlyGlySerValValSerCys)
c.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (n.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG)
c.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (n.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG)
c.152-5052_152-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG
c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2066delinsLysGluLysCysGlyGlySerValValSerCys)
c.6002_6003insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2001delinsLysGluLysCysGlyGlySerValValSerCys)
c.6170_6171insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2057delinsLysGluLysCysGlyGlySerValValSerCys)
 dbSNP
16g.89280243T>ACA397151425ANKRD11c.6299A>T (p.Asn2100Ile)
c.*6102A>T (n.*6102A>T)
c.745-5052A>T (n.745-5052A>T)
c.152-5052A>T
c.6197A>T (p.Asn2066Ile)
c.6002A>T (p.Asn2001Ile)
c.6170A>T (p.Asn2057Ile)
 gnomAD v4
16g.89280243T>CCA397151426ANKRD11c.6299A>G (p.Asn2100Ser)
c.*6102A>G (n.*6102A>G)
c.745-5052A>G (n.745-5052A>G)
c.152-5052A>G
c.6197A>G (p.Asn2066Ser)
c.6002A>G (p.Asn2001Ser)
c.6170A>G (p.Asn2057Ser)
 dbSNP gnomAD v2
16g.89280243T>GCA397151427ANKRD11c.6299A>C (p.Asn2100Thr)
c.*6102A>C (n.*6102A>C)
c.745-5052A>C (n.745-5052A>C)
c.152-5052A>C
c.6197A>C (p.Asn2066Thr)
c.6002A>C (p.Asn2001Thr)
c.6170A>C (p.Asn2057Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280243T=CA2241587269ANKRD11c.6299A= (p.Asn2100=)
c.*6102A= (n.*6102A=)
c.745-5052A= (n.745-5052A=)
c.152-5052A=
c.6197A= (p.Asn2066=)
c.6002A= (p.Asn2001=)
c.6170A= (p.Asn2057=)
16g.89280245_89280246dupCA2697556041ANKRD11c.6298_6299dup (p.Asn2100LysfsTer?)
c.*6101_*6102dup (n.*6101_*6102dup)
c.745-5053_745-5052dup (n.745-5053_745-5052dup)
c.152-5053_152-5052dup
c.6196_6197dup (p.Asn2066LysfsTer?)
c.6001_6002dup (p.Asn2001LysfsTer?)
c.6169_6170dup (p.Asn2057LysfsTer?)
 ClinVar
16g.89280244T>ACA397151428ANKRD11c.6298A>T (p.Asn2100Tyr)
c.*6101A>T (n.*6101A>T)
c.745-5053A>T (n.745-5053A>T)
c.152-5053A>T
c.6196A>T (p.Asn2066Tyr)
c.6001A>T (p.Asn2001Tyr)
c.6169A>T (p.Asn2057Tyr)
16g.89280244T>CCA397151429ANKRD11c.6298A>G (p.Asn2100Asp)
c.*6101A>G (n.*6101A>G)
c.745-5053A>G (n.745-5053A>G)
c.152-5053A>G
c.6196A>G (p.Asn2066Asp)
c.6001A>G (p.Asn2001Asp)
c.6169A>G (p.Asn2057Asp)
16g.89280244T>GCA397151430ANKRD11c.6298A>C (p.Asn2100His)
c.*6101A>C (n.*6101A>C)
c.745-5053A>C (n.745-5053A>C)
c.152-5053A>C
c.6196A>C (p.Asn2066His)
c.6001A>C (p.Asn2001His)
c.6169A>C (p.Asn2057His)

Number of alleles fetched