Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89284348A=CA2241602498ANKRD11c.2194T= (p.Phe732=)
c.*1997T= (n.*1997T=)
c.1819T= (p.Phe607=)
c.744+4180T= (n.744+4180T=)
n.3966T=
c.151+4180T=
c.2092T= (p.Phe698=)
c.1897T= (p.Phe633=)
c.2065T= (p.Phe689=)
16g.89284348A>CCA397162971ANKRD11c.2194T>G (p.Phe732Val)
c.*1997T>G (n.*1997T>G)
c.1819T>G (p.Phe607Val)
c.744+4180T>G (n.744+4180T>G)
n.3966T>G
c.151+4180T>G
c.2092T>G (p.Phe698Val)
c.1897T>G (p.Phe633Val)
c.2065T>G (p.Phe689Val)
 ClinVar
16g.89284348A>GCA8242625ANKRD11c.2194T>C (p.Phe732Leu)
c.*1997T>C (n.*1997T>C)
c.1819T>C (p.Phe607Leu)
c.744+4180T>C (n.744+4180T>C)
n.3966T>C
c.151+4180T>C
c.2092T>C (p.Phe698Leu)
c.1897T>C (p.Phe633Leu)
c.2065T>C (p.Phe689Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284348A>TCA397162972ANKRD11c.2194T>A (p.Phe732Ile)
c.*1997T>A (n.*1997T>A)
c.1819T>A (p.Phe607Ile)
c.744+4180T>A (n.744+4180T>A)
n.3966T>A
c.151+4180T>A
c.2092T>A (p.Phe698Ile)
c.1897T>A (p.Phe633Ile)
c.2065T>A (p.Phe689Ile)
16g.89284349A>CCA497375040ANKRD11c.2193T>G (p.Ser731=)
c.*1996T>G (n.*1996T>G)
c.1818T>G (p.Ser606=)
c.744+4179T>G (n.744+4179T>G)
n.3965T>G
c.151+4179T>G
c.2091T>G (p.Ser697=)
c.1896T>G (p.Ser632=)
c.2064T>G (p.Ser688=)
16g.89284349A>GCA497375042ANKRD11c.2193T>C (p.Ser731=)
c.*1996T>C (n.*1996T>C)
c.1818T>C (p.Ser606=)
c.744+4179T>C (n.744+4179T>C)
n.3965T>C
c.151+4179T>C
c.2091T>C (p.Ser697=)
c.1896T>C (p.Ser632=)
c.2064T>C (p.Ser688=)
 gnomAD v4
16g.89284349A>TCA497375044ANKRD11c.2193T>A (p.Ser731=)
c.*1996T>A (n.*1996T>A)
c.1818T>A (p.Ser606=)
c.744+4179T>A (n.744+4179T>A)
n.3965T>A
c.151+4179T>A
c.2091T>A (p.Ser697=)
c.1896T>A (p.Ser632=)
c.2064T>A (p.Ser688=)
 gnomAD v4
16g.89284350G>ACA397162973ANKRD11c.2192C>T (p.Ser731Phe)
c.*1995C>T (n.*1995C>T)
c.1817C>T (p.Ser606Phe)
c.744+4178C>T (n.744+4178C>T)
n.3964C>T
c.151+4178C>T
c.2090C>T (p.Ser697Phe)
c.1895C>T (p.Ser632Phe)
c.2063C>T (p.Ser688Phe)
 gnomAD v4
16g.89284350G>CCA397162974ANKRD11c.2192C>G (p.Ser731Cys)
c.*1995C>G (n.*1995C>G)
c.1817C>G (p.Ser606Cys)
c.744+4178C>G (n.744+4178C>G)
n.3964C>G
c.151+4178C>G
c.2090C>G (p.Ser697Cys)
c.1895C>G (p.Ser632Cys)
c.2063C>G (p.Ser688Cys)
16g.89284350G>TCA397162975ANKRD11c.2192C>A (p.Ser731Tyr)
c.*1995C>A (n.*1995C>A)
c.1817C>A (p.Ser606Tyr)
c.744+4178C>A (n.744+4178C>A)
n.3964C>A
c.151+4178C>A
c.2090C>A (p.Ser697Tyr)
c.1895C>A (p.Ser632Tyr)
c.2063C>A (p.Ser688Tyr)
16g.89284351A>CCA397162976ANKRD11c.2191T>G (p.Ser731Ala)
c.*1994T>G (n.*1994T>G)
c.1816T>G (p.Ser606Ala)
c.744+4177T>G (n.744+4177T>G)
n.3963T>G
c.151+4177T>G
c.2089T>G (p.Ser697Ala)
c.1894T>G (p.Ser632Ala)
c.2062T>G (p.Ser688Ala)
16g.89284351A>GCA397162977ANKRD11c.2191T>C (p.Ser731Pro)
c.*1994T>C (n.*1994T>C)
c.1816T>C (p.Ser606Pro)
c.744+4177T>C (n.744+4177T>C)
n.3963T>C
c.151+4177T>C
c.2089T>C (p.Ser697Pro)
c.1894T>C (p.Ser632Pro)
c.2062T>C (p.Ser688Pro)
16g.89284351A>TCA397162978ANKRD11c.2191T>A (p.Ser731Thr)
c.*1994T>A (n.*1994T>A)
c.1816T>A (p.Ser606Thr)
c.744+4177T>A (n.744+4177T>A)
n.3963T>A
c.151+4177T>A
c.2089T>A (p.Ser697Thr)
c.1894T>A (p.Ser632Thr)
c.2062T>A (p.Ser688Thr)
16g.89284352C>ACA397162979ANKRD11c.2190G>T (p.Arg730Ser)
c.*1993G>T (n.*1993G>T)
c.1815G>T (p.Arg605Ser)
c.744+4176G>T (n.744+4176G>T)
n.3962G>T
c.151+4176G>T
c.2088G>T (p.Arg696Ser)
c.1893G>T (p.Arg631Ser)
c.2061G>T (p.Arg687Ser)
 dbSNP
16g.89284352C=CA2241602499ANKRD11c.2190G= (p.Arg730=)
c.*1993G= (n.*1993G=)
c.1815G= (p.Arg605=)
c.744+4176G= (n.744+4176G=)
n.3962G=
c.151+4176G=
c.2088G= (p.Arg696=)
c.1893G= (p.Arg631=)
c.2061G= (p.Arg687=)
16g.89284352C>GCA397162980ANKRD11c.2190G>C (p.Arg730Ser)
c.*1993G>C (n.*1993G>C)
c.1815G>C (p.Arg605Ser)
c.744+4176G>C (n.744+4176G>C)
n.3962G>C
c.151+4176G>C
c.2088G>C (p.Arg696Ser)
c.1893G>C (p.Arg631Ser)
c.2061G>C (p.Arg687Ser)
16g.89284352C>TCA497375047ANKRD11c.2190G>A (p.Arg730=)
c.*1993G>A (n.*1993G>A)
c.1815G>A (p.Arg605=)
c.744+4176G>A (n.744+4176G>A)
n.3962G>A
c.151+4176G>A
c.2088G>A (p.Arg696=)
c.1893G>A (p.Arg631=)
c.2061G>A (p.Arg687=)
 dbSNP gnomAD v4
16g.89284352_89284355delinsCCTGCA2241602500ANKRD11c.2187_2190delinsCAGG (p.Ser729=)
c.*1990_*1993delinsCAGG (n.*1990_*1993delinsCAGG)
c.1812_1815delinsCAGG (p.Ser604=)
c.744+4173_744+4176delinsCAGG (n.744+4173_744+4176delinsCAGG)
n.3959_3962delinsCAGG
c.151+4173_151+4176delinsCAGG
c.2085_2088delinsCAGG (p.Ser695=)
c.1890_1893delinsCAGG (p.Ser630=)
c.2058_2061delinsCAGG (p.Ser686=)
16g.89284353C>ACA397162981ANKRD11c.2189G>T (p.Arg730Met)
c.*1992G>T (n.*1992G>T)
c.1814G>T (p.Arg605Met)
c.744+4175G>T (n.744+4175G>T)
n.3961G>T
c.151+4175G>T
c.2087G>T (p.Arg696Met)
c.1892G>T (p.Arg631Met)
c.2060G>T (p.Arg687Met)
16g.89284353C=CA2241602504ANKRD11c.2189G= (p.Arg730=)
c.*1992G= (n.*1992G=)
c.1814G= (p.Arg605=)
c.744+4175G= (n.744+4175G=)
n.3961G=
c.151+4175G=
c.2087G= (p.Arg696=)
c.1892G= (p.Arg631=)
c.2060G= (p.Arg687=)
16g.89284353C>GCA397162982ANKRD11c.2189G>C (p.Arg730Thr)
c.*1992G>C (n.*1992G>C)
c.1814G>C (p.Arg605Thr)
c.744+4175G>C (n.744+4175G>C)
n.3961G>C
c.151+4175G>C
c.2087G>C (p.Arg696Thr)
c.1892G>C (p.Arg631Thr)
c.2060G>C (p.Arg687Thr)
 gnomAD v4
16g.89284353C>TCA397162983ANKRD11c.2189G>A (p.Arg730Lys)
c.*1992G>A (n.*1992G>A)
c.1814G>A (p.Arg605Lys)
c.744+4175G>A (n.744+4175G>A)
n.3961G>A
c.151+4175G>A
c.2087G>A (p.Arg696Lys)
c.1892G>A (p.Arg631Lys)
c.2060G>A (p.Arg687Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.89284356_89284358delCA2241602502ANKRD11c.2187_2189del (p.Ser729del)
c.*1990_*1992del (n.*1990_*1992del)
c.1812_1814del (p.Ser604del)
c.744+4173_744+4175del (n.744+4173_744+4175del)
n.3959_3961del
c.151+4173_151+4175del
c.2085_2087del (p.Ser695del)
c.1890_1892del (p.Ser630del)
c.2058_2060del (p.Ser686del)
 ClinVar dbSNP
16g.89284354T>ACA397162985ANKRD11c.2188A>T (p.Arg730Trp)
c.*1991A>T (n.*1991A>T)
c.1813A>T (p.Arg605Trp)
c.744+4174A>T (n.744+4174A>T)
n.3960A>T
c.151+4174A>T
c.2086A>T (p.Arg696Trp)
c.1891A>T (p.Arg631Trp)
c.2059A>T (p.Arg687Trp)
16g.89284354T>CCA397162984ANKRD11c.2188A>G (p.Arg730Gly)
c.*1991A>G (n.*1991A>G)
c.1813A>G (p.Arg605Gly)
c.744+4174A>G (n.744+4174A>G)
n.3960A>G
c.151+4174A>G
c.2086A>G (p.Arg696Gly)
c.1891A>G (p.Arg631Gly)
c.2059A>G (p.Arg687Gly)
16g.89284354T>GCA497375052ANKRD11c.2188A>C (p.Arg730=)
c.*1991A>C (n.*1991A>C)
c.1813A>C (p.Arg605=)
c.744+4174A>C (n.744+4174A>C)
n.3960A>C
c.151+4174A>C
c.2086A>C (p.Arg696=)
c.1891A>C (p.Arg631=)
c.2059A>C (p.Arg687=)
16g.89284355G>ACA497375058ANKRD11c.2187C>T (p.Ser729=)
c.*1990C>T (n.*1990C>T)
c.1812C>T (p.Ser604=)
c.744+4173C>T (n.744+4173C>T)
n.3959C>T
c.151+4173C>T
c.2085C>T (p.Ser695=)
c.1890C>T (p.Ser630=)
c.2058C>T (p.Ser686=)
16g.89284355G>CCA397162986ANKRD11c.2187C>G (p.Ser729Arg)
c.*1990C>G (n.*1990C>G)
c.1812C>G (p.Ser604Arg)
c.744+4173C>G (n.744+4173C>G)
n.3959C>G
c.151+4173C>G
c.2085C>G (p.Ser695Arg)
c.1890C>G (p.Ser630Arg)
c.2058C>G (p.Ser686Arg)
16g.89284355G>TCA397162987ANKRD11c.2187C>A (p.Ser729Arg)
c.*1990C>A (n.*1990C>A)
c.1812C>A (p.Ser604Arg)
c.744+4173C>A (n.744+4173C>A)
n.3959C>A
c.151+4173C>A
c.2085C>A (p.Ser695Arg)
c.1890C>A (p.Ser630Arg)
c.2058C>A (p.Ser686Arg)
16g.89284356C>ACA397162988ANKRD11c.2186G>T (p.Ser729Ile)
c.*1989G>T (n.*1989G>T)
c.1811G>T (p.Ser604Ile)
c.744+4172G>T (n.744+4172G>T)
n.3958G>T
c.151+4172G>T
c.2084G>T (p.Ser695Ile)
c.1889G>T (p.Ser630Ile)
c.2057G>T (p.Ser686Ile)
16g.89284356C>GCA397162989ANKRD11c.2186G>C (p.Ser729Thr)
c.*1989G>C (n.*1989G>C)
c.1811G>C (p.Ser604Thr)
c.744+4172G>C (n.744+4172G>C)
n.3958G>C
c.151+4172G>C
c.2084G>C (p.Ser695Thr)
c.1889G>C (p.Ser630Thr)
c.2057G>C (p.Ser686Thr)
16g.89284356C>TCA397162990ANKRD11c.2186G>A (p.Ser729Asn)
c.*1989G>A (n.*1989G>A)
c.1811G>A (p.Ser604Asn)
c.744+4172G>A (n.744+4172G>A)
n.3958G>A
c.151+4172G>A
c.2084G>A (p.Ser695Asn)
c.1889G>A (p.Ser630Asn)
c.2057G>A (p.Ser686Asn)
16g.89284357T>ACA397162991ANKRD11c.2185A>T (p.Ser729Cys)
c.*1988A>T (n.*1988A>T)
c.1810A>T (p.Ser604Cys)
c.744+4171A>T (n.744+4171A>T)
n.3957A>T
c.151+4171A>T
c.2083A>T (p.Ser695Cys)
c.1888A>T (p.Ser630Cys)
c.2056A>T (p.Ser686Cys)
16g.89284357T>CCA397162992ANKRD11c.2185A>G (p.Ser729Gly)
c.*1988A>G (n.*1988A>G)
c.1810A>G (p.Ser604Gly)
c.744+4171A>G (n.744+4171A>G)
n.3957A>G
c.151+4171A>G
c.2083A>G (p.Ser695Gly)
c.1888A>G (p.Ser630Gly)
c.2056A>G (p.Ser686Gly)
 dbSNP gnomAD v4
16g.89284357T>GCA397162993ANKRD11c.2185A>C (p.Ser729Arg)
c.*1988A>C (n.*1988A>C)
c.1810A>C (p.Ser604Arg)
c.744+4171A>C (n.744+4171A>C)
n.3957A>C
c.151+4171A>C
c.2083A>C (p.Ser695Arg)
c.1888A>C (p.Ser630Arg)
c.2056A>C (p.Ser686Arg)
16g.89284357T=CA2241602506ANKRD11c.2185A= (p.Ser729=)
c.*1988A= (n.*1988A=)
c.1810A= (p.Ser604=)
c.744+4171A= (n.744+4171A=)
n.3957A=
c.151+4171A=
c.2083A= (p.Ser695=)
c.1888A= (p.Ser630=)
c.2056A= (p.Ser686=)
16g.89284358delCA2739266983ANKRD11c.2184del (p.Ser729AlafsTer20)
c.*1987del (n.*1987del)
c.1809del (p.Ser604AlafsTer20)
c.744+4170del (n.744+4170del)
n.3956del
c.151+4170del
c.2082del (p.Ser695AlafsTer20)
c.1887del (p.Ser630AlafsTer20)
c.2055del (p.Ser686AlafsTer20)
 ClinVar
16g.89284358G>ACA497375063ANKRD11c.2184C>T (p.Ile728=)
c.*1987C>T (n.*1987C>T)
c.1809C>T (p.Ile603=)
c.744+4170C>T (n.744+4170C>T)
n.3956C>T
c.151+4170C>T
c.2082C>T (p.Ile694=)
c.1887C>T (p.Ile629=)
c.2055C>T (p.Ile685=)
 gnomAD v4
16g.89284358G>CCA8242626ANKRD11c.2184C>G (p.Ile728Met)
c.*1987C>G (n.*1987C>G)
c.1809C>G (p.Ile603Met)
c.744+4170C>G (n.744+4170C>G)
n.3956C>G
c.151+4170C>G
c.2082C>G (p.Ile694Met)
c.1887C>G (p.Ile629Met)
c.2055C>G (p.Ile685Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284358G=CA2241602508ANKRD11c.2184C= (p.Ile728=)
c.*1987C= (n.*1987C=)
c.1809C= (p.Ile603=)
c.744+4170C= (n.744+4170C=)
n.3956C=
c.151+4170C=
c.2082C= (p.Ile694=)
c.1887C= (p.Ile629=)
c.2055C= (p.Ile685=)
16g.89284358G>TCA497375064ANKRD11c.2184C>A (p.Ile728=)
c.*1987C>A (n.*1987C>A)
c.1809C>A (p.Ile603=)
c.744+4170C>A (n.744+4170C>A)
n.3956C>A
c.151+4170C>A
c.2082C>A (p.Ile694=)
c.1887C>A (p.Ile629=)
c.2055C>A (p.Ile685=)
16g.89284359A=CA2241602510ANKRD11c.2183T= (p.Ile728=)
c.*1986T= (n.*1986T=)
c.1808T= (p.Ile603=)
c.744+4169T= (n.744+4169T=)
n.3955T=
c.151+4169T=
c.2081T= (p.Ile694=)
c.1886T= (p.Ile629=)
c.2054T= (p.Ile685=)
16g.89284359A>CCA397162994ANKRD11c.2183T>G (p.Ile728Ser)
c.*1986T>G (n.*1986T>G)
c.1808T>G (p.Ile603Ser)
c.744+4169T>G (n.744+4169T>G)
n.3955T>G
c.151+4169T>G
c.2081T>G (p.Ile694Ser)
c.1886T>G (p.Ile629Ser)
c.2054T>G (p.Ile685Ser)
 ClinVar
16g.89284359A>GCA397162995ANKRD11c.2183T>C (p.Ile728Thr)
c.*1986T>C (n.*1986T>C)
c.1808T>C (p.Ile603Thr)
c.744+4169T>C (n.744+4169T>C)
n.3955T>C
c.151+4169T>C
c.2081T>C (p.Ile694Thr)
c.1886T>C (p.Ile629Thr)
c.2054T>C (p.Ile685Thr)
 gnomAD v4
16g.89284359A>TCA8242627ANKRD11c.2183T>A (p.Ile728Asn)
c.*1986T>A (n.*1986T>A)
c.1808T>A (p.Ile603Asn)
c.744+4169T>A (n.744+4169T>A)
n.3955T>A
c.151+4169T>A
c.2081T>A (p.Ile694Asn)
c.1886T>A (p.Ile629Asn)
c.2054T>A (p.Ile685Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284359_89284360delCA2695223985ANKRD11c.2182_2183del (p.Ile728GlnfsTer13)
c.*1985_*1986del (n.*1985_*1986del)
c.1807_1808del (p.Ile603GlnfsTer13)
c.744+4168_744+4169del (n.744+4168_744+4169del)
n.3954_3955del
c.151+4168_151+4169del
c.2080_2081del (p.Ile694GlnfsTer13)
c.1885_1886del (p.Ile629GlnfsTer13)
c.2053_2054del (p.Ile685GlnfsTer13)
16g.89284360T>ACA397162997ANKRD11c.2182A>T (p.Ile728Phe)
c.*1985A>T (n.*1985A>T)
c.1807A>T (p.Ile603Phe)
c.744+4168A>T (n.744+4168A>T)
n.3954A>T
c.151+4168A>T
c.2080A>T (p.Ile694Phe)
c.1885A>T (p.Ile629Phe)
c.2053A>T (p.Ile685Phe)
16g.89284360T>CCA8242628ANKRD11c.2182A>G (p.Ile728Val)
c.*1985A>G (n.*1985A>G)
c.1807A>G (p.Ile603Val)
c.744+4168A>G (n.744+4168A>G)
n.3954A>G
c.151+4168A>G
c.2080A>G (p.Ile694Val)
c.1885A>G (p.Ile629Val)
c.2053A>G (p.Ile685Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284360T>GCA397162996ANKRD11c.2182A>C (p.Ile728Leu)
c.*1985A>C (n.*1985A>C)
c.1807A>C (p.Ile603Leu)
c.744+4168A>C (n.744+4168A>C)
n.3954A>C
c.151+4168A>C
c.2080A>C (p.Ile694Leu)
c.1885A>C (p.Ile629Leu)
c.2053A>C (p.Ile685Leu)
16g.89284360T=CA2241602512ANKRD11c.2182A= (p.Ile728=)
c.*1985A= (n.*1985A=)
c.1807A= (p.Ile603=)
c.744+4168A= (n.744+4168A=)
n.3954A=
c.151+4168A=
c.2080A= (p.Ile694=)
c.1885A= (p.Ile629=)
c.2053A= (p.Ile685=)
16g.89284361G>ACA497375067ANKRD11c.2181C>T (p.Asp727=)
c.*1984C>T (n.*1984C>T)
c.1806C>T (p.Asp602=)
c.744+4167C>T (n.744+4167C>T)
n.3953C>T
c.151+4167C>T
c.2079C>T (p.Asp693=)
c.1884C>T (p.Asp628=)
c.2052C>T (p.Asp684=)
 dbSNP gnomAD v4
16g.89284361G>CCA397162998ANKRD11c.2181C>G (p.Asp727Glu)
c.*1984C>G (n.*1984C>G)
c.1806C>G (p.Asp602Glu)
c.744+4167C>G (n.744+4167C>G)
n.3953C>G
c.151+4167C>G
c.2079C>G (p.Asp693Glu)
c.1884C>G (p.Asp628Glu)
c.2052C>G (p.Asp684Glu)
16g.89284361G=CA2241602513ANKRD11c.2181C= (p.Asp727=)
c.*1984C= (n.*1984C=)
c.1806C= (p.Asp602=)
c.744+4167C= (n.744+4167C=)
n.3953C=
c.151+4167C=
c.2079C= (p.Asp693=)
c.1884C= (p.Asp628=)
c.2052C= (p.Asp684=)
16g.89284361G>TCA397162999ANKRD11c.2181C>A (p.Asp727Glu)
c.*1984C>A (n.*1984C>A)
c.1806C>A (p.Asp602Glu)
c.744+4167C>A (n.744+4167C>A)
n.3953C>A
c.151+4167C>A
c.2079C>A (p.Asp693Glu)
c.1884C>A (p.Asp628Glu)
c.2052C>A (p.Asp684Glu)
16g.89284362T>ACA397163000ANKRD11c.2180A>T (p.Asp727Val)
c.*1983A>T (n.*1983A>T)
c.1805A>T (p.Asp602Val)
c.744+4166A>T (n.744+4166A>T)
n.3952A>T
c.151+4166A>T
c.2078A>T (p.Asp693Val)
c.1883A>T (p.Asp628Val)
c.2051A>T (p.Asp684Val)
 dbSNP gnomAD v3 gnomAD v4
16g.89284362T>CCA397163001ANKRD11c.2180A>G (p.Asp727Gly)
c.*1983A>G (n.*1983A>G)
c.1805A>G (p.Asp602Gly)
c.744+4166A>G (n.744+4166A>G)
n.3952A>G
c.151+4166A>G
c.2078A>G (p.Asp693Gly)
c.1883A>G (p.Asp628Gly)
c.2051A>G (p.Asp684Gly)
16g.89284362T>GCA397163002ANKRD11c.2180A>C (p.Asp727Ala)
c.*1983A>C (n.*1983A>C)
c.1805A>C (p.Asp602Ala)
c.744+4166A>C (n.744+4166A>C)
n.3952A>C
c.151+4166A>C
c.2078A>C (p.Asp693Ala)
c.1883A>C (p.Asp628Ala)
c.2051A>C (p.Asp684Ala)
 gnomAD v4
16g.89284362T=CA2241602514ANKRD11c.2180A= (p.Asp727=)
c.*1983A= (n.*1983A=)
c.1805A= (p.Asp602=)
c.744+4166A= (n.744+4166A=)
n.3952A=
c.151+4166A=
c.2078A= (p.Asp693=)
c.1883A= (p.Asp628=)
c.2051A= (p.Asp684=)
16g.89284363C>ACA397163005ANKRD11c.2179G>T (p.Asp727Tyr)
c.*1982G>T (n.*1982G>T)
c.1804G>T (p.Asp602Tyr)
c.744+4165G>T (n.744+4165G>T)
n.3951G>T
c.151+4165G>T
c.2077G>T (p.Asp693Tyr)
c.1882G>T (p.Asp628Tyr)
c.2050G>T (p.Asp684Tyr)
16g.89284363C>GCA397163004ANKRD11c.2179G>C (p.Asp727His)
c.*1982G>C (n.*1982G>C)
c.1804G>C (p.Asp602His)
c.744+4165G>C (n.744+4165G>C)
n.3951G>C
c.151+4165G>C
c.2077G>C (p.Asp693His)
c.1882G>C (p.Asp628His)
c.2050G>C (p.Asp684His)
16g.89284363C>TCA397163003ANKRD11c.2179G>A (p.Asp727Asn)
c.*1982G>A (n.*1982G>A)
c.1804G>A (p.Asp602Asn)
c.744+4165G>A (n.744+4165G>A)
n.3951G>A
c.151+4165G>A
c.2077G>A (p.Asp693Asn)
c.1882G>A (p.Asp628Asn)
c.2050G>A (p.Asp684Asn)
16g.89284363_89284367delinsCTTTGCA2241602515ANKRD11c.2175_2179delinsCAAAG (p.Asn725=)
c.*1978_*1982delinsCAAAG (n.*1978_*1982delinsCAAAG)
c.1800_1804delinsCAAAG (p.Asn600=)
c.744+4161_744+4165delinsCAAAG (n.744+4161_744+4165delinsCAAAG)
n.3947_3951delinsCAAAG
c.151+4161_151+4165delinsCAAAG
c.2073_2077delinsCAAAG (p.Asn691=)
c.1878_1882delinsCAAAG (p.Asn626=)
c.2046_2050delinsCAAAG (p.Asn682=)
16g.89284364T>ACA397163006ANKRD11c.2178A>T (p.Lys726Asn)
c.*1981A>T (n.*1981A>T)
c.1803A>T (p.Lys601Asn)
c.744+4164A>T (n.744+4164A>T)
n.3950A>T
c.151+4164A>T
c.2076A>T (p.Lys692Asn)
c.1881A>T (p.Lys627Asn)
c.2049A>T (p.Lys683Asn)
16g.89284364T>CCA497375074ANKRD11c.2178A>G (p.Lys726=)
c.*1981A>G (n.*1981A>G)
c.1803A>G (p.Lys601=)
c.744+4164A>G (n.744+4164A>G)
n.3950A>G
c.151+4164A>G
c.2076A>G (p.Lys692=)
c.1881A>G (p.Lys627=)
c.2049A>G (p.Lys683=)
16g.89284364T>GCA397163007ANKRD11c.2178A>C (p.Lys726Asn)
c.*1981A>C (n.*1981A>C)
c.1803A>C (p.Lys601Asn)
c.744+4164A>C (n.744+4164A>C)
n.3950A>C
c.151+4164A>C
c.2076A>C (p.Lys692Asn)
c.1881A>C (p.Lys627Asn)
c.2049A>C (p.Lys683Asn)
16g.89284365_89284366delCA2580092310ANKRD11c.2177_2178del (p.Lys726ArgfsTer15)
c.*1980_*1981del (n.*1980_*1981del)
c.1802_1803del (p.Lys601ArgfsTer15)
c.744+4163_744+4164del (n.744+4163_744+4164del)
n.3949_3950del
c.151+4163_151+4164del
c.2075_2076del (p.Lys692ArgfsTer15)
c.1880_1881del (p.Lys627ArgfsTer15)
c.2048_2049del (p.Lys683ArgfsTer15)
 ClinVar dbSNP
16g.89284369_89284372delCA10588634ANKRD11c.2175_2178del (p.Asn725LysfsTer23)
c.*1978_*1981del (n.*1978_*1981del)
c.1800_1803del (p.Asn600LysfsTer23)
c.744+4161_744+4164del (n.744+4161_744+4164del)
n.3947_3950del
c.151+4161_151+4164del
c.2073_2076del (p.Asn691LysfsTer23)
c.1878_1881del (p.Asn626LysfsTer23)
c.2046_2049del (p.Asn682LysfsTer23)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89284365T>ACA397163008ANKRD11c.2177A>T (p.Lys726Ile)
c.*1980A>T (n.*1980A>T)
c.1802A>T (p.Lys601Ile)
c.744+4163A>T (n.744+4163A>T)
n.3949A>T
c.151+4163A>T
c.2075A>T (p.Lys692Ile)
c.1880A>T (p.Lys627Ile)
c.2048A>T (p.Lys683Ile)
16g.89284365T>CCA397163009ANKRD11c.2177A>G (p.Lys726Arg)
c.*1980A>G (n.*1980A>G)
c.1802A>G (p.Lys601Arg)
c.744+4163A>G (n.744+4163A>G)
n.3949A>G
c.151+4163A>G
c.2075A>G (p.Lys692Arg)
c.1880A>G (p.Lys627Arg)
c.2048A>G (p.Lys683Arg)
16g.89284365T>GCA397163010ANKRD11c.2177A>C (p.Lys726Thr)
c.*1980A>C (n.*1980A>C)
c.1802A>C (p.Lys601Thr)
c.744+4163A>C (n.744+4163A>C)
n.3949A>C
c.151+4163A>C
c.2075A>C (p.Lys692Thr)
c.1880A>C (p.Lys627Thr)
c.2048A>C (p.Lys683Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284365T=CA2241602518ANKRD11c.2177A= (p.Lys726=)
c.*1980A= (n.*1980A=)
c.1802A= (p.Lys601=)
c.744+4163A= (n.744+4163A=)
n.3949A=
c.151+4163A=
c.2075A= (p.Lys692=)
c.1880A= (p.Lys627=)
c.2048A= (p.Lys683=)
16g.89284366T>ACA397163011ANKRD11c.2176A>T (p.Lys726Ter)
c.*1979A>T (n.*1979A>T)
c.1801A>T (p.Lys601Ter)
c.744+4162A>T (n.744+4162A>T)
n.3948A>T
c.151+4162A>T
c.2074A>T (p.Lys692Ter)
c.1879A>T (p.Lys627Ter)
c.2047A>T (p.Lys683Ter)
16g.89284366T>CCA397163013ANKRD11c.2176A>G (p.Lys726Glu)
c.*1979A>G (n.*1979A>G)
c.1801A>G (p.Lys601Glu)
c.744+4162A>G (n.744+4162A>G)
n.3948A>G
c.151+4162A>G
c.2074A>G (p.Lys692Glu)
c.1879A>G (p.Lys627Glu)
c.2047A>G (p.Lys683Glu)
16g.89284366T>GCA397163012ANKRD11c.2176A>C (p.Lys726Gln)
c.*1979A>C (n.*1979A>C)
c.1801A>C (p.Lys601Gln)
c.744+4162A>C (n.744+4162A>C)
n.3948A>C
c.151+4162A>C
c.2074A>C (p.Lys692Gln)
c.1879A>C (p.Lys627Gln)
c.2047A>C (p.Lys683Gln)
16g.89284367G>ACA497375077ANKRD11c.2175C>T (p.Asn725=)
c.*1978C>T (n.*1978C>T)
c.1800C>T (p.Asn600=)
c.744+4161C>T (n.744+4161C>T)
n.3947C>T
c.151+4161C>T
c.2073C>T (p.Asn691=)
c.1878C>T (p.Asn626=)
c.2046C>T (p.Asn682=)
16g.89284367G>CCA397163014ANKRD11c.2175C>G (p.Asn725Lys)
c.*1978C>G (n.*1978C>G)
c.1800C>G (p.Asn600Lys)
c.744+4161C>G (n.744+4161C>G)
n.3947C>G
c.151+4161C>G
c.2073C>G (p.Asn691Lys)
c.1878C>G (p.Asn626Lys)
c.2046C>G (p.Asn682Lys)
 dbSNP gnomAD v4
16g.89284367G=CA2241602520ANKRD11c.2175C= (p.Asn725=)
c.*1978C= (n.*1978C=)
c.1800C= (p.Asn600=)
c.744+4161C= (n.744+4161C=)
n.3947C=
c.151+4161C=
c.2073C= (p.Asn691=)
c.1878C= (p.Asn626=)
c.2046C= (p.Asn682=)
16g.89284367G>TCA397163015ANKRD11c.2175C>A (p.Asn725Lys)
c.*1978C>A (n.*1978C>A)
c.1800C>A (p.Asn600Lys)
c.744+4161C>A (n.744+4161C>A)
n.3947C>A
c.151+4161C>A
c.2073C>A (p.Asn691Lys)
c.1878C>A (p.Asn626Lys)
c.2046C>A (p.Asn682Lys)
16g.89284368T>ACA397163016ANKRD11c.2174A>T (p.Asn725Ile)
c.*1977A>T (n.*1977A>T)
c.1799A>T (p.Asn600Ile)
c.744+4160A>T (n.744+4160A>T)
n.3946A>T
c.151+4160A>T
c.2072A>T (p.Asn691Ile)
c.1877A>T (p.Asn626Ile)
c.2045A>T (p.Asn682Ile)
16g.89284368T>CCA397163017ANKRD11c.2174A>G (p.Asn725Ser)
c.*1977A>G (n.*1977A>G)
c.1799A>G (p.Asn600Ser)
c.744+4160A>G (n.744+4160A>G)
n.3946A>G
c.151+4160A>G
c.2072A>G (p.Asn691Ser)
c.1877A>G (p.Asn626Ser)
c.2045A>G (p.Asn682Ser)
16g.89284368T>GCA397163018ANKRD11c.2174A>C (p.Asn725Thr)
c.*1977A>C (n.*1977A>C)
c.1799A>C (p.Asn600Thr)
c.744+4160A>C (n.744+4160A>C)
n.3946A>C
c.151+4160A>C
c.2072A>C (p.Asn691Thr)
c.1877A>C (p.Asn626Thr)
c.2045A>C (p.Asn682Thr)
16g.89284369T>ACA397163019ANKRD11c.2173A>T (p.Asn725Tyr)
c.*1976A>T (n.*1976A>T)
c.1798A>T (p.Asn600Tyr)
c.744+4159A>T (n.744+4159A>T)
n.3945A>T
c.151+4159A>T
c.2071A>T (p.Asn691Tyr)
c.1876A>T (p.Asn626Tyr)
c.2044A>T (p.Asn682Tyr)
 dbSNP
16g.89284369T>CCA397163020ANKRD11c.2173A>G (p.Asn725Asp)
c.*1976A>G (n.*1976A>G)
c.1798A>G (p.Asn600Asp)
c.744+4159A>G (n.744+4159A>G)
n.3945A>G
c.151+4159A>G
c.2071A>G (p.Asn691Asp)
c.1876A>G (p.Asn626Asp)
c.2044A>G (p.Asn682Asp)
16g.89284369T>GCA397163021ANKRD11c.2173A>C (p.Asn725His)
c.*1976A>C (n.*1976A>C)
c.1798A>C (p.Asn600His)
c.744+4159A>C (n.744+4159A>C)
n.3945A>C
c.151+4159A>C
c.2071A>C (p.Asn691His)
c.1876A>C (p.Asn626His)
c.2044A>C (p.Asn682His)
16g.89284369T=CA2241602522ANKRD11c.2173A= (p.Asn725=)
c.*1976A= (n.*1976A=)
c.1798A= (p.Asn600=)
c.744+4159A= (n.744+4159A=)
n.3945A=
c.151+4159A=
c.2071A= (p.Asn691=)
c.1876A= (p.Asn626=)
c.2044A= (p.Asn682=)
16g.89284370T>ACA497375084ANKRD11c.2172A>T (p.Thr724=)
c.*1975A>T (n.*1975A>T)
c.1797A>T (p.Thr599=)
c.744+4158A>T (n.744+4158A>T)
n.3944A>T
c.151+4158A>T
c.2070A>T (p.Thr690=)
c.1875A>T (p.Thr625=)
c.2043A>T (p.Thr681=)
 dbSNP gnomAD v2 gnomAD v4
16g.89284370T>CCA497375085ANKRD11c.2172A>G (p.Thr724=)
c.*1975A>G (n.*1975A>G)
c.1797A>G (p.Thr599=)
c.744+4158A>G (n.744+4158A>G)
n.3944A>G
c.151+4158A>G
c.2070A>G (p.Thr690=)
c.1875A>G (p.Thr625=)
c.2043A>G (p.Thr681=)
16g.89284370T>GCA497375086ANKRD11c.2172A>C (p.Thr724=)
c.*1975A>C (n.*1975A>C)
c.1797A>C (p.Thr599=)
c.744+4158A>C (n.744+4158A>C)
n.3944A>C
c.151+4158A>C
c.2070A>C (p.Thr690=)
c.1875A>C (p.Thr625=)
c.2043A>C (p.Thr681=)
16g.89284370T=CA2241602524ANKRD11c.2172A= (p.Thr724=)
c.*1975A= (n.*1975A=)
c.1797A= (p.Thr599=)
c.744+4158A= (n.744+4158A=)
n.3944A=
c.151+4158A=
c.2070A= (p.Thr690=)
c.1875A= (p.Thr625=)
c.2043A= (p.Thr681=)
16g.89284371G>ACA397163022ANKRD11c.2171C>T (p.Thr724Ile)
c.*1974C>T (n.*1974C>T)
c.1796C>T (p.Thr599Ile)
c.744+4157C>T (n.744+4157C>T)
n.3943C>T
c.151+4157C>T
c.2069C>T (p.Thr690Ile)
c.1874C>T (p.Thr625Ile)
c.2042C>T (p.Thr681Ile)
16g.89284371G>CCA397163023ANKRD11c.2171C>G (p.Thr724Arg)
c.*1974C>G (n.*1974C>G)
c.1796C>G (p.Thr599Arg)
c.744+4157C>G (n.744+4157C>G)
n.3943C>G
c.151+4157C>G
c.2069C>G (p.Thr690Arg)
c.1874C>G (p.Thr625Arg)
c.2042C>G (p.Thr681Arg)
16g.89284371G=CA2241602525ANKRD11c.2171C= (p.Thr724=)
c.*1974C= (n.*1974C=)
c.1796C= (p.Thr599=)
c.744+4157C= (n.744+4157C=)
n.3943C=
c.151+4157C=
c.2069C= (p.Thr690=)
c.1874C= (p.Thr625=)
c.2042C= (p.Thr681=)
16g.89284371G>TCA397163024ANKRD11c.2171C>A (p.Thr724Lys)
c.*1974C>A (n.*1974C>A)
c.1796C>A (p.Thr599Lys)
c.744+4157C>A (n.744+4157C>A)
n.3943C>A
c.151+4157C>A
c.2069C>A (p.Thr690Lys)
c.1874C>A (p.Thr625Lys)
c.2042C>A (p.Thr681Lys)
 dbSNP
16g.89284372T>ACA397163025ANKRD11c.2170A>T (p.Thr724Ser)
c.*1973A>T (n.*1973A>T)
c.1795A>T (p.Thr599Ser)
c.744+4156A>T (n.744+4156A>T)
n.3942A>T
c.151+4156A>T
c.2068A>T (p.Thr690Ser)
c.1873A>T (p.Thr625Ser)
c.2041A>T (p.Thr681Ser)
16g.89284372T>CCA397163027ANKRD11c.2170A>G (p.Thr724Ala)
c.*1973A>G (n.*1973A>G)
c.1795A>G (p.Thr599Ala)
c.744+4156A>G (n.744+4156A>G)
n.3942A>G
c.151+4156A>G
c.2068A>G (p.Thr690Ala)
c.1873A>G (p.Thr625Ala)
c.2041A>G (p.Thr681Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.89284372T>GCA397163026ANKRD11c.2170A>C (p.Thr724Pro)
c.*1973A>C (n.*1973A>C)
c.1795A>C (p.Thr599Pro)
c.744+4156A>C (n.744+4156A>C)
n.3942A>C
c.151+4156A>C
c.2068A>C (p.Thr690Pro)
c.1873A>C (p.Thr625Pro)
c.2041A>C (p.Thr681Pro)
16g.89284372T=CA2241602527ANKRD11c.2170A= (p.Thr724=)
c.*1973A= (n.*1973A=)
c.1795A= (p.Thr599=)
c.744+4156A= (n.744+4156A=)
n.3942A=
c.151+4156A=
c.2068A= (p.Thr690=)
c.1873A= (p.Thr625=)
c.2041A= (p.Thr681=)
16g.89284373G>ACA497375089ANKRD11c.2169C>T (p.Asp723=)
c.*1972C>T (n.*1972C>T)
c.1794C>T (p.Asp598=)
c.744+4155C>T (n.744+4155C>T)
n.3941C>T
c.151+4155C>T
c.2067C>T (p.Asp689=)
c.1872C>T (p.Asp624=)
c.2040C>T (p.Asp680=)
16g.89284373G>CCA397163028ANKRD11c.2169C>G (p.Asp723Glu)
c.*1972C>G (n.*1972C>G)
c.1794C>G (p.Asp598Glu)
c.744+4155C>G (n.744+4155C>G)
n.3941C>G
c.151+4155C>G
c.2067C>G (p.Asp689Glu)
c.1872C>G (p.Asp624Glu)
c.2040C>G (p.Asp680Glu)
16g.89284373G>TCA397163029ANKRD11c.2169C>A (p.Asp723Glu)
c.*1972C>A (n.*1972C>A)
c.1794C>A (p.Asp598Glu)
c.744+4155C>A (n.744+4155C>A)
n.3941C>A
c.151+4155C>A
c.2067C>A (p.Asp689Glu)
c.1872C>A (p.Asp624Glu)
c.2040C>A (p.Asp680Glu)
 gnomAD v4
16g.89284374T>ACA397163030ANKRD11c.2168A>T (p.Asp723Val)
c.*1971A>T (n.*1971A>T)
c.1793A>T (p.Asp598Val)
c.744+4154A>T (n.744+4154A>T)
n.3940A>T
c.151+4154A>T
c.2066A>T (p.Asp689Val)
c.1871A>T (p.Asp624Val)
c.2039A>T (p.Asp680Val)
16g.89284374T>CCA397163031ANKRD11c.2168A>G (p.Asp723Gly)
c.*1971A>G (n.*1971A>G)
c.1793A>G (p.Asp598Gly)
c.744+4154A>G (n.744+4154A>G)
n.3940A>G
c.151+4154A>G
c.2066A>G (p.Asp689Gly)
c.1871A>G (p.Asp624Gly)
c.2039A>G (p.Asp680Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.89284374T>GCA397163032ANKRD11c.2168A>C (p.Asp723Ala)
c.*1971A>C (n.*1971A>C)
c.1793A>C (p.Asp598Ala)
c.744+4154A>C (n.744+4154A>C)
n.3940A>C
c.151+4154A>C
c.2066A>C (p.Asp689Ala)
c.1871A>C (p.Asp624Ala)
c.2039A>C (p.Asp680Ala)
 ClinVar
16g.89284374T=CA2241602528ANKRD11c.2168A= (p.Asp723=)
c.*1971A= (n.*1971A=)
c.1793A= (p.Asp598=)
c.744+4154A= (n.744+4154A=)
n.3940A=
c.151+4154A=
c.2066A= (p.Asp689=)
c.1871A= (p.Asp624=)
c.2039A= (p.Asp680=)
16g.89284375C>ACA397163033ANKRD11c.2167G>T (p.Asp723Tyr)
c.*1970G>T (n.*1970G>T)
c.1792G>T (p.Asp598Tyr)
c.744+4153G>T (n.744+4153G>T)
n.3939G>T
c.151+4153G>T
c.2065G>T (p.Asp689Tyr)
c.1870G>T (p.Asp624Tyr)
c.2038G>T (p.Asp680Tyr)
16g.89284375C>GCA397163034ANKRD11c.2167G>C (p.Asp723His)
c.*1970G>C (n.*1970G>C)
c.1792G>C (p.Asp598His)
c.744+4153G>C (n.744+4153G>C)
n.3939G>C
c.151+4153G>C
c.2065G>C (p.Asp689His)
c.1870G>C (p.Asp624His)
c.2038G>C (p.Asp680His)
 gnomAD v4
16g.89284375C>TCA397163035ANKRD11c.2167G>A (p.Asp723Asn)
c.*1970G>A (n.*1970G>A)
c.1792G>A (p.Asp598Asn)
c.744+4153G>A (n.744+4153G>A)
n.3939G>A
c.151+4153G>A
c.2065G>A (p.Asp689Asn)
c.1870G>A (p.Asp624Asn)
c.2038G>A (p.Asp680Asn)
16g.89284376T>ACA397163036ANKRD11c.2166A>T (p.Lys722Asn)
c.*1969A>T (n.*1969A>T)
c.1791A>T (p.Lys597Asn)
c.744+4152A>T (n.744+4152A>T)
n.3938A>T
c.151+4152A>T
c.2064A>T (p.Lys688Asn)
c.1869A>T (p.Lys623Asn)
c.2037A>T (p.Lys679Asn)
16g.89284376T>CCA497375094ANKRD11c.2166A>G (p.Lys722=)
c.*1969A>G (n.*1969A>G)
c.1791A>G (p.Lys597=)
c.744+4152A>G (n.744+4152A>G)
n.3938A>G
c.151+4152A>G
c.2064A>G (p.Lys688=)
c.1869A>G (p.Lys623=)
c.2037A>G (p.Lys679=)
 gnomAD v4
16g.89284376T>GCA397163037ANKRD11c.2166A>C (p.Lys722Asn)
c.*1969A>C (n.*1969A>C)
c.1791A>C (p.Lys597Asn)
c.744+4152A>C (n.744+4152A>C)
n.3938A>C
c.151+4152A>C
c.2064A>C (p.Lys688Asn)
c.1869A>C (p.Lys623Asn)
c.2037A>C (p.Lys679Asn)
16g.89284378dupCA2573152764ANKRD11c.2166dup (p.Asp723ArgfsTer19)
c.*1969dup (n.*1969dup)
c.1791dup (p.Asp598ArgfsTer19)
c.744+4152dup (n.744+4152dup)
n.3938dup
c.151+4152dup
c.2064dup (p.Asp689ArgfsTer19)
c.1869dup (p.Asp624ArgfsTer19)
c.2037dup (p.Asp680ArgfsTer19)
 ClinVar dbSNP
16g.89284377_89284378delCA2576120152ANKRD11c.2165_2166del (p.Lys722ArgfsTer19)
c.*1968_*1969del (n.*1968_*1969del)
c.1790_1791del (p.Lys597ArgfsTer19)
c.744+4151_744+4152del (n.744+4151_744+4152del)
n.3937_3938del
c.151+4151_151+4152del
c.2063_2064del (p.Lys688ArgfsTer19)
c.1868_1869del (p.Lys623ArgfsTer19)
c.2036_2037del (p.Lys679ArgfsTer19)
16g.89284377T>ACA397163038ANKRD11c.2165A>T (p.Lys722Ile)
c.*1968A>T (n.*1968A>T)
c.1790A>T (p.Lys597Ile)
c.744+4151A>T (n.744+4151A>T)
n.3937A>T
c.151+4151A>T
c.2063A>T (p.Lys688Ile)
c.1868A>T (p.Lys623Ile)
c.2036A>T (p.Lys679Ile)
16g.89284377T>CCA397163039ANKRD11c.2165A>G (p.Lys722Arg)
c.*1968A>G (n.*1968A>G)
c.1790A>G (p.Lys597Arg)
c.744+4151A>G (n.744+4151A>G)
n.3937A>G
c.151+4151A>G
c.2063A>G (p.Lys688Arg)
c.1868A>G (p.Lys623Arg)
c.2036A>G (p.Lys679Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.89284377T>GCA397163040ANKRD11c.2165A>C (p.Lys722Thr)
c.*1968A>C (n.*1968A>C)
c.1790A>C (p.Lys597Thr)
c.744+4151A>C (n.744+4151A>C)
n.3937A>C
c.151+4151A>C
c.2063A>C (p.Lys688Thr)
c.1868A>C (p.Lys623Thr)
c.2036A>C (p.Lys679Thr)
16g.89284377T=CA2241602530ANKRD11c.2165A= (p.Lys722=)
c.*1968A= (n.*1968A=)
c.1790A= (p.Lys597=)
c.744+4151A= (n.744+4151A=)
n.3937A=
c.151+4151A=
c.2063A= (p.Lys688=)
c.1868A= (p.Lys623=)
c.2036A= (p.Lys679=)
16g.89284378T>ACA397163041ANKRD11c.2164A>T (p.Lys722Ter)
c.*1967A>T (n.*1967A>T)
c.1789A>T (p.Lys597Ter)
c.744+4150A>T (n.744+4150A>T)
n.3936A>T
c.151+4150A>T
c.2062A>T (p.Lys688Ter)
c.1867A>T (p.Lys623Ter)
c.2035A>T (p.Lys679Ter)
16g.89284378T>CCA397163042ANKRD11c.2164A>G (p.Lys722Glu)
c.*1967A>G (n.*1967A>G)
c.1789A>G (p.Lys597Glu)
c.744+4150A>G (n.744+4150A>G)
n.3936A>G
c.151+4150A>G
c.2062A>G (p.Lys688Glu)
c.1867A>G (p.Lys623Glu)
c.2035A>G (p.Lys679Glu)
16g.89284378T>GCA397163043ANKRD11c.2164A>C (p.Lys722Gln)
c.*1967A>C (n.*1967A>C)
c.1789A>C (p.Lys597Gln)
c.744+4150A>C (n.744+4150A>C)
n.3936A>C
c.151+4150A>C
c.2062A>C (p.Lys688Gln)
c.1867A>C (p.Lys623Gln)
c.2035A>C (p.Lys679Gln)
16g.89284379G>ACA497375100ANKRD11c.2163C>T (p.Ile721=)
c.*1966C>T (n.*1966C>T)
c.1788C>T (p.Ile596=)
c.744+4149C>T (n.744+4149C>T)
n.3935C>T
c.151+4149C>T
c.2061C>T (p.Ile687=)
c.1866C>T (p.Ile622=)
c.2034C>T (p.Ile678=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284379G>CCA8242629ANKRD11c.2163C>G (p.Ile721Met)
c.*1966C>G (n.*1966C>G)
c.1788C>G (p.Ile596Met)
c.744+4149C>G (n.744+4149C>G)
n.3935C>G
c.151+4149C>G
c.2061C>G (p.Ile687Met)
c.1866C>G (p.Ile622Met)
c.2034C>G (p.Ile678Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284379G=CA2241602532ANKRD11c.2163C= (p.Ile721=)
c.*1966C= (n.*1966C=)
c.1788C= (p.Ile596=)
c.744+4149C= (n.744+4149C=)
n.3935C=
c.151+4149C=
c.2061C= (p.Ile687=)
c.1866C= (p.Ile622=)
c.2034C= (p.Ile678=)
16g.89284379G>TCA497375099ANKRD11c.2163C>A (p.Ile721=)
c.*1966C>A (n.*1966C>A)
c.1788C>A (p.Ile596=)
c.744+4149C>A (n.744+4149C>A)
n.3935C>A
c.151+4149C>A
c.2061C>A (p.Ile687=)
c.1866C>A (p.Ile622=)
c.2034C>A (p.Ile678=)
 COSMIC
16g.89284380A>CCA397163044ANKRD11c.2162T>G (p.Ile721Ser)
c.*1965T>G (n.*1965T>G)
c.1787T>G (p.Ile596Ser)
c.744+4148T>G (n.744+4148T>G)
n.3934T>G
c.151+4148T>G
c.2060T>G (p.Ile687Ser)
c.1865T>G (p.Ile622Ser)
c.2033T>G (p.Ile678Ser)
16g.89284380A>GCA397163045ANKRD11c.2162T>C (p.Ile721Thr)
c.*1965T>C (n.*1965T>C)
c.1787T>C (p.Ile596Thr)
c.744+4148T>C (n.744+4148T>C)
n.3934T>C
c.151+4148T>C
c.2060T>C (p.Ile687Thr)
c.1865T>C (p.Ile622Thr)
c.2033T>C (p.Ile678Thr)
16g.89284380A>TCA397163046ANKRD11c.2162T>A (p.Ile721Asn)
c.*1965T>A (n.*1965T>A)
c.1787T>A (p.Ile596Asn)
c.744+4148T>A (n.744+4148T>A)
n.3934T>A
c.151+4148T>A
c.2060T>A (p.Ile687Asn)
c.1865T>A (p.Ile622Asn)
c.2033T>A (p.Ile678Asn)
16g.89284381T>ACA397163047ANKRD11c.2161A>T (p.Ile721Phe)
c.*1964A>T (n.*1964A>T)
c.1786A>T (p.Ile596Phe)
c.744+4147A>T (n.744+4147A>T)
n.3933A>T
c.151+4147A>T
c.2059A>T (p.Ile687Phe)
c.1864A>T (p.Ile622Phe)
c.2032A>T (p.Ile678Phe)
16g.89284381T>CCA397163048ANKRD11c.2161A>G (p.Ile721Val)
c.*1964A>G (n.*1964A>G)
c.1786A>G (p.Ile596Val)
c.744+4147A>G (n.744+4147A>G)
n.3933A>G
c.151+4147A>G
c.2059A>G (p.Ile687Val)
c.1864A>G (p.Ile622Val)
c.2032A>G (p.Ile678Val)
 gnomAD v4
16g.89284381T>GCA397163049ANKRD11c.2161A>C (p.Ile721Leu)
c.*1964A>C (n.*1964A>C)
c.1786A>C (p.Ile596Leu)
c.744+4147A>C (n.744+4147A>C)
n.3933A>C
c.151+4147A>C
c.2059A>C (p.Ile687Leu)
c.1864A>C (p.Ile622Leu)
c.2032A>C (p.Ile678Leu)
16g.89284382dupCA2740095159ANKRD11c.2161dup (p.Ile721AsnfsTer21)
c.*1964dup (n.*1964dup)
c.1786dup (p.Ile596AsnfsTer21)
c.744+4147dup (n.744+4147dup)
n.3933dup
c.151+4147dup
c.2059dup (p.Ile687AsnfsTer21)
c.1864dup (p.Ile622AsnfsTer21)
c.2032dup (p.Ile678AsnfsTer21)
 ClinVar
16g.89284382delCA2695223986ANKRD11c.2161del (p.Ile721SerfsTer28)
c.*1964del (n.*1964del)
c.1786del (p.Ile596SerfsTer28)
c.744+4147del (n.744+4147del)
n.3933del
c.151+4147del
c.2059del (p.Ile687SerfsTer28)
c.1864del (p.Ile622SerfsTer28)
c.2032del (p.Ile678SerfsTer28)
16g.89284382T>ACA397163050ANKRD11c.2160A>T (p.Arg720Ser)
c.*1963A>T (n.*1963A>T)
c.1785A>T (p.Arg595Ser)
c.744+4146A>T (n.744+4146A>T)
n.3932A>T
c.151+4146A>T
c.2058A>T (p.Arg686Ser)
c.1863A>T (p.Arg621Ser)
c.2031A>T (p.Arg677Ser)
16g.89284382T>CCA497375107ANKRD11c.2160A>G (p.Arg720=)
c.*1963A>G (n.*1963A>G)
c.1785A>G (p.Arg595=)
c.744+4146A>G (n.744+4146A>G)
n.3932A>G
c.151+4146A>G
c.2058A>G (p.Arg686=)
c.1863A>G (p.Arg621=)
c.2031A>G (p.Arg677=)
16g.89284382T>GCA397163051ANKRD11c.2160A>C (p.Arg720Ser)
c.*1963A>C (n.*1963A>C)
c.1785A>C (p.Arg595Ser)
c.744+4146A>C (n.744+4146A>C)
n.3932A>C
c.151+4146A>C
c.2058A>C (p.Arg686Ser)
c.1863A>C (p.Arg621Ser)
c.2031A>C (p.Arg677Ser)
16g.89284383C>ACA397163052ANKRD11c.2159G>T (p.Arg720Ile)
c.*1962G>T (n.*1962G>T)
c.1784G>T (p.Arg595Ile)
c.744+4145G>T (n.744+4145G>T)
n.3931G>T
c.151+4145G>T
c.2057G>T (p.Arg686Ile)
c.1862G>T (p.Arg621Ile)
c.2030G>T (p.Arg677Ile)
16g.89284383C=CA2241602534ANKRD11c.2159G= (p.Arg720=)
c.*1962G= (n.*1962G=)
c.1784G= (p.Arg595=)
c.744+4145G= (n.744+4145G=)
n.3931G=
c.151+4145G=
c.2057G= (p.Arg686=)
c.1862G= (p.Arg621=)
c.2030G= (p.Arg677=)
16g.89284383C>GCA286519611ANKRD11c.2159G>C (p.Arg720Thr)
c.*1962G>C (n.*1962G>C)
c.1784G>C (p.Arg595Thr)
c.744+4145G>C (n.744+4145G>C)
n.3931G>C
c.151+4145G>C
c.2057G>C (p.Arg686Thr)
c.1862G>C (p.Arg621Thr)
c.2030G>C (p.Arg677Thr)
 dbSNP
16g.89284383C>TCA397163053ANKRD11c.2159G>A (p.Arg720Lys)
c.*1962G>A (n.*1962G>A)
c.1784G>A (p.Arg595Lys)
c.744+4145G>A (n.744+4145G>A)
n.3931G>A
c.151+4145G>A
c.2057G>A (p.Arg686Lys)
c.1862G>A (p.Arg621Lys)
c.2030G>A (p.Arg677Lys)
16g.89284384T>ACA397163054ANKRD11c.2158A>T (p.Arg720Ter)
c.*1961A>T (n.*1961A>T)
c.1783A>T (p.Arg595Ter)
c.744+4144A>T (n.744+4144A>T)
n.3930A>T
c.151+4144A>T
c.2056A>T (p.Arg686Ter)
c.1861A>T (p.Arg621Ter)
c.2029A>T (p.Arg677Ter)
16g.89284384T>CCA397163055ANKRD11c.2158A>G (p.Arg720Gly)
c.*1961A>G (n.*1961A>G)
c.1783A>G (p.Arg595Gly)
c.744+4144A>G (n.744+4144A>G)
n.3930A>G
c.151+4144A>G
c.2056A>G (p.Arg686Gly)
c.1861A>G (p.Arg621Gly)
c.2029A>G (p.Arg677Gly)
16g.89284384T>GCA497375115ANKRD11c.2158A>C (p.Arg720=)
c.*1961A>C (n.*1961A>C)
c.1783A>C (p.Arg595=)
c.744+4144A>C (n.744+4144A>C)
n.3930A>C
c.151+4144A>C
c.2056A>C (p.Arg686=)
c.1861A>C (p.Arg621=)
c.2029A>C (p.Arg677=)
16g.89284385C>ACA397163056ANKRD11c.2157G>T (p.Lys719Asn)
c.*1960G>T (n.*1960G>T)
c.1782G>T (p.Lys594Asn)
c.744+4143G>T (n.744+4143G>T)
n.3929G>T
c.151+4143G>T
c.2055G>T (p.Lys685Asn)
c.1860G>T (p.Lys620Asn)
c.2028G>T (p.Lys676Asn)
16g.89284385C>GCA397163057ANKRD11c.2157G>C (p.Lys719Asn)
c.*1960G>C (n.*1960G>C)
c.1782G>C (p.Lys594Asn)
c.744+4143G>C (n.744+4143G>C)
n.3929G>C
c.151+4143G>C
c.2055G>C (p.Lys685Asn)
c.1860G>C (p.Lys620Asn)
c.2028G>C (p.Lys676Asn)
16g.89284385C>TCA497375116ANKRD11c.2157G>A (p.Lys719=)
c.*1960G>A (n.*1960G>A)
c.1782G>A (p.Lys594=)
c.744+4143G>A (n.744+4143G>A)
n.3929G>A
c.151+4143G>A
c.2055G>A (p.Lys685=)
c.1860G>A (p.Lys620=)
c.2028G>A (p.Lys676=)
16g.89284386T>ACA397163058ANKRD11c.2156A>T (p.Lys719Met)
c.*1959A>T (n.*1959A>T)
c.1781A>T (p.Lys594Met)
c.744+4142A>T (n.744+4142A>T)
n.3928A>T
c.151+4142A>T
c.2054A>T (p.Lys685Met)
c.1859A>T (p.Lys620Met)
c.2027A>T (p.Lys676Met)
16g.89284386T>CCA397163059ANKRD11c.2156A>G (p.Lys719Arg)
c.*1959A>G (n.*1959A>G)
c.1781A>G (p.Lys594Arg)
c.744+4142A>G (n.744+4142A>G)
n.3928A>G
c.151+4142A>G
c.2054A>G (p.Lys685Arg)
c.1859A>G (p.Lys620Arg)
c.2027A>G (p.Lys676Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284386T>GCA397163060ANKRD11c.2156A>C (p.Lys719Thr)
c.*1959A>C (n.*1959A>C)
c.1781A>C (p.Lys594Thr)
c.744+4142A>C (n.744+4142A>C)
n.3928A>C
c.151+4142A>C
c.2054A>C (p.Lys685Thr)
c.1859A>C (p.Lys620Thr)
c.2027A>C (p.Lys676Thr)
16g.89284386T=CA2241602535ANKRD11c.2156A= (p.Lys719=)
c.*1959A= (n.*1959A=)
c.1781A= (p.Lys594=)
c.744+4142A= (n.744+4142A=)
n.3928A=
c.151+4142A=
c.2054A= (p.Lys685=)
c.1859A= (p.Lys620=)
c.2027A= (p.Lys676=)
16g.89284387T>ACA397163061ANKRD11c.2155A>T (p.Lys719Ter)
c.*1958A>T (n.*1958A>T)
c.1780A>T (p.Lys594Ter)
c.744+4141A>T (n.744+4141A>T)
n.3927A>T
c.151+4141A>T
c.2053A>T (p.Lys685Ter)
c.1858A>T (p.Lys620Ter)
c.2026A>T (p.Lys676Ter)
16g.89284387T>CCA397163062ANKRD11c.2155A>G (p.Lys719Glu)
c.*1958A>G (n.*1958A>G)
c.1780A>G (p.Lys594Glu)
c.744+4141A>G (n.744+4141A>G)
n.3927A>G
c.151+4141A>G
c.2053A>G (p.Lys685Glu)
c.1858A>G (p.Lys620Glu)
c.2026A>G (p.Lys676Glu)
16g.89284387T>GCA397163063ANKRD11c.2155A>C (p.Lys719Gln)
c.*1958A>C (n.*1958A>C)
c.1780A>C (p.Lys594Gln)
c.744+4141A>C (n.744+4141A>C)
n.3927A>C
c.151+4141A>C
c.2053A>C (p.Lys685Gln)
c.1858A>C (p.Lys620Gln)
c.2026A>C (p.Lys676Gln)
16g.89284388C>ACA497375127ANKRD11c.2154G>T (p.Leu718=)
c.*1957G>T (n.*1957G>T)
c.1779G>T (p.Leu593=)
c.744+4140G>T (n.744+4140G>T)
n.3926G>T
c.151+4140G>T
c.2052G>T (p.Leu684=)
c.1857G>T (p.Leu619=)
c.2025G>T (p.Leu675=)
16g.89284388C>GCA497375126ANKRD11c.2154G>C (p.Leu718=)
c.*1957G>C (n.*1957G>C)
c.1779G>C (p.Leu593=)
c.744+4140G>C (n.744+4140G>C)
n.3926G>C
c.151+4140G>C
c.2052G>C (p.Leu684=)
c.1857G>C (p.Leu619=)
c.2025G>C (p.Leu675=)
 gnomAD v4
16g.89284388C>TCA497375125ANKRD11c.2154G>A (p.Leu718=)
c.*1957G>A (n.*1957G>A)
c.1779G>A (p.Leu593=)
c.744+4140G>A (n.744+4140G>A)
n.3926G>A
c.151+4140G>A
c.2052G>A (p.Leu684=)
c.1857G>A (p.Leu619=)
c.2025G>A (p.Leu675=)
 gnomAD v4
16g.89284389A>CCA397163066ANKRD11c.2153T>G (p.Leu718Arg)
c.*1956T>G (n.*1956T>G)
c.1778T>G (p.Leu593Arg)
c.744+4139T>G (n.744+4139T>G)
n.3925T>G
c.151+4139T>G
c.2051T>G (p.Leu684Arg)
c.1856T>G (p.Leu619Arg)
c.2024T>G (p.Leu675Arg)
16g.89284389A>GCA397163064ANKRD11c.2153T>C (p.Leu718Pro)
c.*1956T>C (n.*1956T>C)
c.1778T>C (p.Leu593Pro)
c.744+4139T>C (n.744+4139T>C)
n.3925T>C
c.151+4139T>C
c.2051T>C (p.Leu684Pro)
c.1856T>C (p.Leu619Pro)
c.2024T>C (p.Leu675Pro)
16g.89284389A>TCA397163065ANKRD11c.2153T>A (p.Leu718Gln)
c.*1956T>A (n.*1956T>A)
c.1778T>A (p.Leu593Gln)
c.744+4139T>A (n.744+4139T>A)
n.3925T>A
c.151+4139T>A
c.2051T>A (p.Leu684Gln)
c.1856T>A (p.Leu619Gln)
c.2024T>A (p.Leu675Gln)
16g.89284390G>ACA497375130ANKRD11c.2152C>T (p.Leu718=)
c.*1955C>T (n.*1955C>T)
c.1777C>T (p.Leu593=)
c.744+4138C>T (n.744+4138C>T)
n.3924C>T
c.151+4138C>T
c.2050C>T (p.Leu684=)
c.1855C>T (p.Leu619=)
c.2023C>T (p.Leu675=)
 dbSNP gnomAD v4
16g.89284390G>CCA397163067ANKRD11c.2152C>G (p.Leu718Val)
c.*1955C>G (n.*1955C>G)
c.1777C>G (p.Leu593Val)
c.744+4138C>G (n.744+4138C>G)
n.3924C>G
c.151+4138C>G
c.2050C>G (p.Leu684Val)
c.1855C>G (p.Leu619Val)
c.2023C>G (p.Leu675Val)
 dbSNP
16g.89284390G=CA2241602537ANKRD11c.2152C= (p.Leu718=)
c.*1955C= (n.*1955C=)
c.1777C= (p.Leu593=)
c.744+4138C= (n.744+4138C=)
n.3924C=
c.151+4138C=
c.2050C= (p.Leu684=)
c.1855C= (p.Leu619=)
c.2023C= (p.Leu675=)
16g.89284390G>TCA397163068ANKRD11c.2152C>A (p.Leu718Met)
c.*1955C>A (n.*1955C>A)
c.1777C>A (p.Leu593Met)
c.744+4138C>A (n.744+4138C>A)
n.3924C>A
c.151+4138C>A
c.2050C>A (p.Leu684Met)
c.1855C>A (p.Leu619Met)
c.2023C>A (p.Leu675Met)
16g.89284391T>ACA497375135ANKRD11c.2151A>T (p.Ser717=)
c.*1954A>T (n.*1954A>T)
c.1776A>T (p.Ser592=)
c.744+4137A>T (n.744+4137A>T)
n.3923A>T
c.151+4137A>T
c.2049A>T (p.Ser683=)
c.1854A>T (p.Ser618=)
c.2022A>T (p.Ser674=)
16g.89284391T>CCA497375131ANKRD11c.2151A>G (p.Ser717=)
c.*1954A>G (n.*1954A>G)
c.1776A>G (p.Ser592=)
c.744+4137A>G (n.744+4137A>G)
n.3923A>G
c.151+4137A>G
c.2049A>G (p.Ser683=)
c.1854A>G (p.Ser618=)
c.2022A>G (p.Ser674=)
16g.89284391T>GCA497375133ANKRD11c.2151A>C (p.Ser717=)
c.*1954A>C (n.*1954A>C)
c.1776A>C (p.Ser592=)
c.744+4137A>C (n.744+4137A>C)
n.3923A>C
c.151+4137A>C
c.2049A>C (p.Ser683=)
c.1854A>C (p.Ser618=)
c.2022A>C (p.Ser674=)
 gnomAD v4
16g.89284392G>ACA397163069ANKRD11c.2150C>T (p.Ser717Leu)
c.*1953C>T (n.*1953C>T)
c.1775C>T (p.Ser592Leu)
c.744+4136C>T (n.744+4136C>T)
n.3922C>T
c.151+4136C>T
c.2048C>T (p.Ser683Leu)
c.1853C>T (p.Ser618Leu)
c.2021C>T (p.Ser674Leu)
 COSMIC
16g.89284392G>CCA397163070ANKRD11c.2150C>G (p.Ser717Ter)
c.*1953C>G (n.*1953C>G)
c.1775C>G (p.Ser592Ter)
c.744+4136C>G (n.744+4136C>G)
n.3922C>G
c.151+4136C>G
c.2048C>G (p.Ser683Ter)
c.1853C>G (p.Ser618Ter)
c.2021C>G (p.Ser674Ter)
16g.89284392G>TCA397163071ANKRD11c.2150C>A (p.Ser717Ter)
c.*1953C>A (n.*1953C>A)
c.1775C>A (p.Ser592Ter)
c.744+4136C>A (n.744+4136C>A)
n.3922C>A
c.151+4136C>A
c.2048C>A (p.Ser683Ter)
c.1853C>A (p.Ser618Ter)
c.2021C>A (p.Ser674Ter)
16g.89284393A>CCA397163072ANKRD11c.2149T>G (p.Ser717Ala)
c.*1952T>G (n.*1952T>G)
c.1774T>G (p.Ser592Ala)
c.744+4135T>G (n.744+4135T>G)
n.3921T>G
c.151+4135T>G
c.2047T>G (p.Ser683Ala)
c.1852T>G (p.Ser618Ala)
c.2020T>G (p.Ser674Ala)
16g.89284393A>GCA397163074ANKRD11c.2149T>C (p.Ser717Pro)
c.*1952T>C (n.*1952T>C)
c.1774T>C (p.Ser592Pro)
c.744+4135T>C (n.744+4135T>C)
n.3921T>C
c.151+4135T>C
c.2047T>C (p.Ser683Pro)
c.1852T>C (p.Ser618Pro)
c.2020T>C (p.Ser674Pro)
 gnomAD v4
16g.89284393A>TCA397163073ANKRD11c.2149T>A (p.Ser717Thr)
c.*1952T>A (n.*1952T>A)
c.1774T>A (p.Ser592Thr)
c.744+4135T>A (n.744+4135T>A)
n.3921T>A
c.151+4135T>A
c.2047T>A (p.Ser683Thr)
c.1852T>A (p.Ser618Thr)
c.2020T>A (p.Ser674Thr)
16g.89284394T>ACA397163075ANKRD11c.2148A>T (p.Lys716Asn)
c.*1951A>T (n.*1951A>T)
c.1773A>T (p.Lys591Asn)
c.744+4134A>T (n.744+4134A>T)
n.3920A>T
c.151+4134A>T
c.2046A>T (p.Lys682Asn)
c.1851A>T (p.Lys617Asn)
c.2019A>T (p.Lys673Asn)
16g.89284394T>CCA8242630ANKRD11c.2148A>G (p.Lys716=)
c.*1951A>G (n.*1951A>G)
c.1773A>G (p.Lys591=)
c.744+4134A>G (n.744+4134A>G)
n.3920A>G
c.151+4134A>G
c.2046A>G (p.Lys682=)
c.1851A>G (p.Lys617=)
c.2019A>G (p.Lys673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284394T>GCA397163076ANKRD11c.2148A>C (p.Lys716Asn)
c.*1951A>C (n.*1951A>C)
c.1773A>C (p.Lys591Asn)
c.744+4134A>C (n.744+4134A>C)
n.3920A>C
c.151+4134A>C
c.2046A>C (p.Lys682Asn)
c.1851A>C (p.Lys617Asn)
c.2019A>C (p.Lys673Asn)
16g.89284394T=CA2241602539ANKRD11c.2148A= (p.Lys716=)
c.*1951A= (n.*1951A=)
c.1773A= (p.Lys591=)
c.744+4134A= (n.744+4134A=)
n.3920A=
c.151+4134A=
c.2046A= (p.Lys682=)
c.1851A= (p.Lys617=)
c.2019A= (p.Lys673=)
16g.89284398dupCA2695223987ANKRD11c.2148dup (p.Ser717IlefsTer25)
c.*1951dup (n.*1951dup)
c.1773dup (p.Ser592IlefsTer25)
c.744+4134dup (n.744+4134dup)
n.3920dup
c.151+4134dup
c.2046dup (p.Ser683IlefsTer25)
c.1851dup (p.Ser618IlefsTer25)
c.2019dup (p.Ser674IlefsTer25)
16g.89284395T>ACA397163077ANKRD11c.2147A>T (p.Lys716Ile)
c.*1950A>T (n.*1950A>T)
c.1772A>T (p.Lys591Ile)
c.744+4133A>T (n.744+4133A>T)
n.3919A>T
c.151+4133A>T
c.2045A>T (p.Lys682Ile)
c.1850A>T (p.Lys617Ile)
c.2018A>T (p.Lys673Ile)
16g.89284395T>CCA397163078ANKRD11c.2147A>G (p.Lys716Arg)
c.*1950A>G (n.*1950A>G)
c.1772A>G (p.Lys591Arg)
c.744+4133A>G (n.744+4133A>G)
n.3919A>G
c.151+4133A>G
c.2045A>G (p.Lys682Arg)
c.1850A>G (p.Lys617Arg)
c.2018A>G (p.Lys673Arg)
16g.89284395T>GCA397163079ANKRD11c.2147A>C (p.Lys716Thr)
c.*1950A>C (n.*1950A>C)
c.1772A>C (p.Lys591Thr)
c.744+4133A>C (n.744+4133A>C)
n.3919A>C
c.151+4133A>C
c.2045A>C (p.Lys682Thr)
c.1850A>C (p.Lys617Thr)
c.2018A>C (p.Lys673Thr)
16g.89284396T>ACA397163080ANKRD11c.2146A>T (p.Lys716Ter)
c.*1949A>T (n.*1949A>T)
c.1771A>T (p.Lys591Ter)
c.744+4132A>T (n.744+4132A>T)
n.3918A>T
c.151+4132A>T
c.2044A>T (p.Lys682Ter)
c.1849A>T (p.Lys617Ter)
c.2017A>T (p.Lys673Ter)
16g.89284396T>CCA397163081ANKRD11c.2146A>G (p.Lys716Glu)
c.*1949A>G (n.*1949A>G)
c.1771A>G (p.Lys591Glu)
c.744+4132A>G (n.744+4132A>G)
n.3918A>G
c.151+4132A>G
c.2044A>G (p.Lys682Glu)
c.1849A>G (p.Lys617Glu)
c.2017A>G (p.Lys673Glu)
16g.89284396T>GCA397163082ANKRD11c.2146A>C (p.Lys716Gln)
c.*1949A>C (n.*1949A>C)
c.1771A>C (p.Lys591Gln)
c.744+4132A>C (n.744+4132A>C)
n.3918A>C
c.151+4132A>C
c.2044A>C (p.Lys682Gln)
c.1849A>C (p.Lys617Gln)
c.2017A>C (p.Lys673Gln)
 ClinVar dbSNP
16g.89284397T>ACA397163083ANKRD11c.2145A>T (p.Glu715Asp)
c.*1948A>T (n.*1948A>T)
c.1770A>T (p.Glu590Asp)
c.744+4131A>T (n.744+4131A>T)
n.3917A>T
c.151+4131A>T
c.2043A>T (p.Glu681Asp)
c.1848A>T (p.Glu616Asp)
c.2016A>T (p.Glu672Asp)
16g.89284397T>CCA497375147ANKRD11c.2145A>G (p.Glu715=)
c.*1948A>G (n.*1948A>G)
c.1770A>G (p.Glu590=)
c.744+4131A>G (n.744+4131A>G)
n.3917A>G
c.151+4131A>G
c.2043A>G (p.Glu681=)
c.1848A>G (p.Glu616=)
c.2016A>G (p.Glu672=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284397T>GCA397163084ANKRD11c.2145A>C (p.Glu715Asp)
c.*1948A>C (n.*1948A>C)
c.1770A>C (p.Glu590Asp)
c.744+4131A>C (n.744+4131A>C)
n.3917A>C
c.151+4131A>C
c.2043A>C (p.Glu681Asp)
c.1848A>C (p.Glu616Asp)
c.2016A>C (p.Glu672Asp)
16g.89284397T=CA2241602542ANKRD11c.2145A= (p.Glu715=)
c.*1948A= (n.*1948A=)
c.1770A= (p.Glu590=)
c.744+4131A= (n.744+4131A=)
n.3917A=
c.151+4131A=
c.2043A= (p.Glu681=)
c.1848A= (p.Glu616=)
c.2016A= (p.Glu672=)
16g.89284398T>ACA397163085ANKRD11c.2144A>T (p.Glu715Val)
c.*1947A>T (n.*1947A>T)
c.1769A>T (p.Glu590Val)
c.744+4130A>T (n.744+4130A>T)
n.3916A>T
c.151+4130A>T
c.2042A>T (p.Glu681Val)
c.1847A>T (p.Glu616Val)
c.2015A>T (p.Glu672Val)
16g.89284398T>CCA397163087ANKRD11c.2144A>G (p.Glu715Gly)
c.*1947A>G (n.*1947A>G)
c.1769A>G (p.Glu590Gly)
c.744+4130A>G (n.744+4130A>G)
n.3916A>G
c.151+4130A>G
c.2042A>G (p.Glu681Gly)
c.1847A>G (p.Glu616Gly)
c.2015A>G (p.Glu672Gly)
16g.89284398T>GCA397163086ANKRD11c.2144A>C (p.Glu715Ala)
c.*1947A>C (n.*1947A>C)
c.1769A>C (p.Glu590Ala)
c.744+4130A>C (n.744+4130A>C)
n.3916A>C
c.151+4130A>C
c.2042A>C (p.Glu681Ala)
c.1847A>C (p.Glu616Ala)
c.2015A>C (p.Glu672Ala)
16g.89284399C>ACA397163088ANKRD11c.2143G>T (p.Glu715Ter)
c.*1946G>T (n.*1946G>T)
c.1768G>T (p.Glu590Ter)
c.744+4129G>T (n.744+4129G>T)
n.3915G>T
c.151+4129G>T
c.2041G>T (p.Glu681Ter)
c.1846G>T (p.Glu616Ter)
c.2014G>T (p.Glu672Ter)
16g.89284399C>GCA397163090ANKRD11c.2143G>C (p.Glu715Gln)
c.*1946G>C (n.*1946G>C)
c.1768G>C (p.Glu590Gln)
c.744+4129G>C (n.744+4129G>C)
n.3915G>C
c.151+4129G>C
c.2041G>C (p.Glu681Gln)
c.1846G>C (p.Glu616Gln)
c.2014G>C (p.Glu672Gln)
16g.89284399C>TCA397163089ANKRD11c.2143G>A (p.Glu715Lys)
c.*1946G>A (n.*1946G>A)
c.1768G>A (p.Glu590Lys)
c.744+4129G>A (n.744+4129G>A)
n.3915G>A
c.151+4129G>A
c.2041G>A (p.Glu681Lys)
c.1846G>A (p.Glu616Lys)
c.2014G>A (p.Glu672Lys)
16g.89284400A>CCA397163091ANKRD11c.2142T>G (p.Asp714Glu)
c.*1945T>G (n.*1945T>G)
c.1767T>G (p.Asp589Glu)
c.744+4128T>G (n.744+4128T>G)
n.3914T>G
c.151+4128T>G
c.2040T>G (p.Asp680Glu)
c.1845T>G (p.Asp615Glu)
c.2013T>G (p.Asp671Glu)
16g.89284400A>GCA497375152ANKRD11c.2142T>C (p.Asp714=)
c.*1945T>C (n.*1945T>C)
c.1767T>C (p.Asp589=)
c.744+4128T>C (n.744+4128T>C)
n.3914T>C
c.151+4128T>C
c.2040T>C (p.Asp680=)
c.1845T>C (p.Asp615=)
c.2013T>C (p.Asp671=)
16g.89284400A>TCA397163092ANKRD11c.2142T>A (p.Asp714Glu)
c.*1945T>A (n.*1945T>A)
c.1767T>A (p.Asp589Glu)
c.744+4128T>A (n.744+4128T>A)
n.3914T>A
c.151+4128T>A
c.2040T>A (p.Asp680Glu)
c.1845T>A (p.Asp615Glu)
c.2013T>A (p.Asp671Glu)
16g.89284401T>ACA397163093ANKRD11c.2141A>T (p.Asp714Val)
c.*1944A>T (n.*1944A>T)
c.1766A>T (p.Asp589Val)
c.744+4127A>T (n.744+4127A>T)
n.3913A>T
c.151+4127A>T
c.2039A>T (p.Asp680Val)
c.1844A>T (p.Asp615Val)
c.2012A>T (p.Asp671Val)
16g.89284401T>CCA397163094ANKRD11c.2141A>G (p.Asp714Gly)
c.*1944A>G (n.*1944A>G)
c.1766A>G (p.Asp589Gly)
c.744+4127A>G (n.744+4127A>G)
n.3913A>G
c.151+4127A>G
c.2039A>G (p.Asp680Gly)
c.1844A>G (p.Asp615Gly)
c.2012A>G (p.Asp671Gly)
16g.89284401T>GCA397163095ANKRD11c.2141A>C (p.Asp714Ala)
c.*1944A>C (n.*1944A>C)
c.1766A>C (p.Asp589Ala)
c.744+4127A>C (n.744+4127A>C)
n.3913A>C
c.151+4127A>C
c.2039A>C (p.Asp680Ala)
c.1844A>C (p.Asp615Ala)
c.2012A>C (p.Asp671Ala)
16g.89284402C>ACA397163096ANKRD11c.2140G>T (p.Asp714Tyr)
c.*1943G>T (n.*1943G>T)
c.1765G>T (p.Asp589Tyr)
c.744+4126G>T (n.744+4126G>T)
n.3912G>T
c.151+4126G>T
c.2038G>T (p.Asp680Tyr)
c.1843G>T (p.Asp615Tyr)
c.2011G>T (p.Asp671Tyr)
16g.89284402C>GCA397163097ANKRD11c.2140G>C (p.Asp714His)
c.*1943G>C (n.*1943G>C)
c.1765G>C (p.Asp589His)
c.744+4126G>C (n.744+4126G>C)
n.3912G>C
c.151+4126G>C
c.2038G>C (p.Asp680His)
c.1843G>C (p.Asp615His)
c.2011G>C (p.Asp671His)
16g.89284402C>TCA397163098ANKRD11c.2140G>A (p.Asp714Asn)
c.*1943G>A (n.*1943G>A)
c.1765G>A (p.Asp589Asn)
c.744+4126G>A (n.744+4126G>A)
n.3912G>A
c.151+4126G>A
c.2038G>A (p.Asp680Asn)
c.1843G>A (p.Asp615Asn)
c.2011G>A (p.Asp671Asn)
16g.89284403T>ACA397163099ANKRD11c.2139A>T (p.Lys713Asn)
c.*1942A>T (n.*1942A>T)
c.1764A>T (p.Lys588Asn)
c.744+4125A>T (n.744+4125A>T)
n.3911A>T
c.151+4125A>T
c.2037A>T (p.Lys679Asn)
c.1842A>T (p.Lys614Asn)
c.2010A>T (p.Lys670Asn)
16g.89284403T>CCA497375159ANKRD11c.2139A>G (p.Lys713=)
c.*1942A>G (n.*1942A>G)
c.1764A>G (p.Lys588=)
c.744+4125A>G (n.744+4125A>G)
n.3911A>G
c.151+4125A>G
c.2037A>G (p.Lys679=)
c.1842A>G (p.Lys614=)
c.2010A>G (p.Lys670=)
16g.89284403T>GCA397163100ANKRD11c.2139A>C (p.Lys713Asn)
c.*1942A>C (n.*1942A>C)
c.1764A>C (p.Lys588Asn)
c.744+4125A>C (n.744+4125A>C)
n.3911A>C
c.151+4125A>C
c.2037A>C (p.Lys679Asn)
c.1842A>C (p.Lys614Asn)
c.2010A>C (p.Lys670Asn)
16g.89284404T>ACA397163103ANKRD11c.2138A>T (p.Lys713Ile)
c.*1941A>T (n.*1941A>T)
c.1763A>T (p.Lys588Ile)
c.744+4124A>T (n.744+4124A>T)
n.3910A>T
c.151+4124A>T
c.2036A>T (p.Lys679Ile)
c.1841A>T (p.Lys614Ile)
c.2009A>T (p.Lys670Ile)
16g.89284404T>CCA397163102ANKRD11c.2138A>G (p.Lys713Arg)
c.*1941A>G (n.*1941A>G)
c.1763A>G (p.Lys588Arg)
c.744+4124A>G (n.744+4124A>G)
n.3910A>G
c.151+4124A>G
c.2036A>G (p.Lys679Arg)
c.1841A>G (p.Lys614Arg)
c.2009A>G (p.Lys670Arg)
16g.89284404T>GCA397163101ANKRD11c.2138A>C (p.Lys713Thr)
c.*1941A>C (n.*1941A>C)
c.1763A>C (p.Lys588Thr)
c.744+4124A>C (n.744+4124A>C)
n.3910A>C
c.151+4124A>C
c.2036A>C (p.Lys679Thr)
c.1841A>C (p.Lys614Thr)
c.2009A>C (p.Lys670Thr)
16g.89284405T>ACA397163104ANKRD11c.2137A>T (p.Lys713Ter)
c.*1940A>T (n.*1940A>T)
c.1762A>T (p.Lys588Ter)
c.744+4123A>T (n.744+4123A>T)
n.3909A>T
c.151+4123A>T
c.2035A>T (p.Lys679Ter)
c.1840A>T (p.Lys614Ter)
c.2008A>T (p.Lys670Ter)
16g.89284405T>CCA397163105ANKRD11c.2137A>G (p.Lys713Glu)
c.*1940A>G (n.*1940A>G)
c.1762A>G (p.Lys588Glu)
c.744+4123A>G (n.744+4123A>G)
n.3909A>G
c.151+4123A>G
c.2035A>G (p.Lys679Glu)
c.1840A>G (p.Lys614Glu)
c.2008A>G (p.Lys670Glu)
 gnomAD v4
16g.89284405T>GCA397163106ANKRD11c.2137A>C (p.Lys713Gln)
c.*1940A>C (n.*1940A>C)
c.1762A>C (p.Lys588Gln)
c.744+4123A>C (n.744+4123A>C)
n.3909A>C
c.151+4123A>C
c.2035A>C (p.Lys679Gln)
c.1840A>C (p.Lys614Gln)
c.2008A>C (p.Lys670Gln)
16g.89284405_89284408delCA2634946185ANKRD11c.2134_2137del (p.Phe712LysfsTer6)
c.*1937_*1940del (n.*1937_*1940del)
c.1759_1762del (p.Phe587LysfsTer6)
c.744+4120_744+4123del (n.744+4120_744+4123del)
n.3906_3909del
c.151+4120_151+4123del
c.2032_2035del (p.Phe678LysfsTer6)
c.1837_1840del (p.Phe613LysfsTer6)
c.2005_2008del (p.Phe669LysfsTer6)
 gnomAD v4
16g.89284406A=CA2241602544ANKRD11c.2136T= (p.Phe712=)
c.*1939T= (n.*1939T=)
c.1761T= (p.Phe587=)
c.744+4122T= (n.744+4122T=)
n.3908T=
c.151+4122T=
c.2034T= (p.Phe678=)
c.1839T= (p.Phe613=)
c.2007T= (p.Phe669=)
16g.89284406A>CCA397163107ANKRD11c.2136T>G (p.Phe712Leu)
c.*1939T>G (n.*1939T>G)
c.1761T>G (p.Phe587Leu)
c.744+4122T>G (n.744+4122T>G)
n.3908T>G
c.151+4122T>G
c.2034T>G (p.Phe678Leu)
c.1839T>G (p.Phe613Leu)
c.2007T>G (p.Phe669Leu)
16g.89284406A>GCA497375164ANKRD11c.2136T>C (p.Phe712=)
c.*1939T>C (n.*1939T>C)
c.1761T>C (p.Phe587=)
c.744+4122T>C (n.744+4122T>C)
n.3908T>C
c.151+4122T>C
c.2034T>C (p.Phe678=)
c.1839T>C (p.Phe613=)
c.2007T>C (p.Phe669=)
 dbSNP gnomAD v2 gnomAD v4
16g.89284406A>TCA397163108ANKRD11c.2136T>A (p.Phe712Leu)
c.*1939T>A (n.*1939T>A)
c.1761T>A (p.Phe587Leu)
c.744+4122T>A (n.744+4122T>A)
n.3908T>A
c.151+4122T>A
c.2034T>A (p.Phe678Leu)
c.1839T>A (p.Phe613Leu)
c.2007T>A (p.Phe669Leu)
 gnomAD v4
16g.89284407A=CA2241602546ANKRD11c.2135T= (p.Phe712=)
c.*1938T= (n.*1938T=)
c.1760T= (p.Phe587=)
c.744+4121T= (n.744+4121T=)
n.3907T=
c.151+4121T=
c.2033T= (p.Phe678=)
c.1838T= (p.Phe613=)
c.2006T= (p.Phe669=)
16g.89284407A>CCA397163109ANKRD11c.2135T>G (p.Phe712Cys)
c.*1938T>G (n.*1938T>G)
c.1760T>G (p.Phe587Cys)
c.744+4121T>G (n.744+4121T>G)
n.3907T>G
c.151+4121T>G
c.2033T>G (p.Phe678Cys)
c.1838T>G (p.Phe613Cys)
c.2006T>G (p.Phe669Cys)
16g.89284407A>GCA397163110ANKRD11c.2135T>C (p.Phe712Ser)
c.*1938T>C (n.*1938T>C)
c.1760T>C (p.Phe587Ser)
c.744+4121T>C (n.744+4121T>C)
n.3907T>C
c.151+4121T>C
c.2033T>C (p.Phe678Ser)
c.1838T>C (p.Phe613Ser)
c.2006T>C (p.Phe669Ser)
16g.89284407A>TCA286519617ANKRD11c.2135T>A (p.Phe712Tyr)
c.*1938T>A (n.*1938T>A)
c.1760T>A (p.Phe587Tyr)
c.744+4121T>A (n.744+4121T>A)
n.3907T>A
c.151+4121T>A
c.2033T>A (p.Phe678Tyr)
c.1838T>A (p.Phe613Tyr)
c.2006T>A (p.Phe669Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284408A=CA2241602548ANKRD11c.2134T= (p.Phe712=)
c.*1937T= (n.*1937T=)
c.1759T= (p.Phe587=)
c.744+4120T= (n.744+4120T=)
n.3906T=
c.151+4120T=
c.2032T= (p.Phe678=)
c.1837T= (p.Phe613=)
c.2005T= (p.Phe669=)
16g.89284408A>CCA397163111ANKRD11c.2134T>G (p.Phe712Val)
c.*1937T>G (n.*1937T>G)
c.1759T>G (p.Phe587Val)
c.744+4120T>G (n.744+4120T>G)
n.3906T>G
c.151+4120T>G
c.2032T>G (p.Phe678Val)
c.1837T>G (p.Phe613Val)
c.2005T>G (p.Phe669Val)
16g.89284408A>GCA8242631ANKRD11c.2134T>C (p.Phe712Leu)
c.*1937T>C (n.*1937T>C)
c.1759T>C (p.Phe587Leu)
c.744+4120T>C (n.744+4120T>C)
n.3906T>C
c.151+4120T>C
c.2032T>C (p.Phe678Leu)
c.1837T>C (p.Phe613Leu)
c.2005T>C (p.Phe669Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284408A>TCA397163112ANKRD11c.2134T>A (p.Phe712Ile)
c.*1937T>A (n.*1937T>A)
c.1759T>A (p.Phe587Ile)
c.744+4120T>A (n.744+4120T>A)
n.3906T>A
c.151+4120T>A
c.2032T>A (p.Phe678Ile)
c.1837T>A (p.Phe613Ile)
c.2005T>A (p.Phe669Ile)
16g.89284409G>ACA497375178ANKRD11c.2133C>T (p.Leu711=)
c.*1936C>T (n.*1936C>T)
c.1758C>T (p.Leu586=)
c.744+4119C>T (n.744+4119C>T)
n.3905C>T
c.151+4119C>T
c.2031C>T (p.Leu677=)
c.1836C>T (p.Leu612=)
c.2004C>T (p.Leu668=)
 gnomAD v4
16g.89284409G>CCA497375174ANKRD11c.2133C>G (p.Leu711=)
c.*1936C>G (n.*1936C>G)
c.1758C>G (p.Leu586=)
c.744+4119C>G (n.744+4119C>G)
n.3905C>G
c.151+4119C>G
c.2031C>G (p.Leu677=)
c.1836C>G (p.Leu612=)
c.2004C>G (p.Leu668=)
16g.89284409G>TCA497375177ANKRD11c.2133C>A (p.Leu711=)
c.*1936C>A (n.*1936C>A)
c.1758C>A (p.Leu586=)
c.744+4119C>A (n.744+4119C>A)
n.3905C>A
c.151+4119C>A
c.2031C>A (p.Leu677=)
c.1836C>A (p.Leu612=)
c.2004C>A (p.Leu668=)
16g.89284410A>CCA397163114ANKRD11c.2132T>G (p.Leu711Arg)
c.*1935T>G (n.*1935T>G)
c.1757T>G (p.Leu586Arg)
c.744+4118T>G (n.744+4118T>G)
n.3904T>G
c.151+4118T>G
c.2030T>G (p.Leu677Arg)
c.1835T>G (p.Leu612Arg)
c.2003T>G (p.Leu668Arg)
16g.89284410A>GCA397163115ANKRD11c.2132T>C (p.Leu711Pro)
c.*1935T>C (n.*1935T>C)
c.1757T>C (p.Leu586Pro)
c.744+4118T>C (n.744+4118T>C)
n.3904T>C
c.151+4118T>C
c.2030T>C (p.Leu677Pro)
c.1835T>C (p.Leu612Pro)
c.2003T>C (p.Leu668Pro)
 gnomAD v4
16g.89284410A>TCA397163113ANKRD11c.2132T>A (p.Leu711His)
c.*1935T>A (n.*1935T>A)
c.1757T>A (p.Leu586His)
c.744+4118T>A (n.744+4118T>A)
n.3904T>A
c.151+4118T>A
c.2030T>A (p.Leu677His)
c.1835T>A (p.Leu612His)
c.2003T>A (p.Leu668His)
16g.89284411G>ACA397163116ANKRD11c.2131C>T (p.Leu711Phe)
c.*1934C>T (n.*1934C>T)
c.1756C>T (p.Leu586Phe)
c.744+4117C>T (n.744+4117C>T)
n.3903C>T
c.151+4117C>T
c.2029C>T (p.Leu677Phe)
c.1834C>T (p.Leu612Phe)
c.2002C>T (p.Leu668Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89284411G>CCA397163117ANKRD11c.2131C>G (p.Leu711Val)
c.*1934C>G (n.*1934C>G)
c.1756C>G (p.Leu586Val)
c.744+4117C>G (n.744+4117C>G)
n.3903C>G
c.151+4117C>G
c.2029C>G (p.Leu677Val)
c.1834C>G (p.Leu612Val)
c.2002C>G (p.Leu668Val)
16g.89284411G=CA2241602550ANKRD11c.2131C= (p.Leu711=)
c.*1934C= (n.*1934C=)
c.1756C= (p.Leu586=)
c.744+4117C= (n.744+4117C=)
n.3903C=
c.151+4117C=
c.2029C= (p.Leu677=)
c.1834C= (p.Leu612=)
c.2002C= (p.Leu668=)
16g.89284411G>TCA397163118ANKRD11c.2131C>A (p.Leu711Ile)
c.*1934C>A (n.*1934C>A)
c.1756C>A (p.Leu586Ile)
c.744+4117C>A (n.744+4117C>A)
n.3903C>A
c.151+4117C>A
c.2029C>A (p.Leu677Ile)
c.1834C>A (p.Leu612Ile)
c.2002C>A (p.Leu668Ile)
16g.89284412C>ACA397163119ANKRD11c.2130G>T (p.Trp710Cys)
c.*1933G>T (n.*1933G>T)
c.1755G>T (p.Trp585Cys)
c.744+4116G>T (n.744+4116G>T)
n.3902G>T
c.151+4116G>T
c.2028G>T (p.Trp676Cys)
c.1833G>T (p.Trp611Cys)
c.2001G>T (p.Trp667Cys)
 gnomAD v4
16g.89284412C=CA2241602552ANKRD11c.2130G= (p.Trp710=)
c.*1933G= (n.*1933G=)
c.1755G= (p.Trp585=)
c.744+4116G= (n.744+4116G=)
n.3902G=
c.151+4116G=
c.2028G= (p.Trp676=)
c.1833G= (p.Trp611=)
c.2001G= (p.Trp667=)
16g.89284412C>GCA397163120ANKRD11c.2130G>C (p.Trp710Cys)
c.*1933G>C (n.*1933G>C)
c.1755G>C (p.Trp585Cys)
c.744+4116G>C (n.744+4116G>C)
n.3902G>C
c.151+4116G>C
c.2028G>C (p.Trp676Cys)
c.1833G>C (p.Trp611Cys)
c.2001G>C (p.Trp667Cys)
 gnomAD v4
16g.89284412C>TCA397163121ANKRD11c.2130G>A (p.Trp710Ter)
c.*1933G>A (n.*1933G>A)
c.1755G>A (p.Trp585Ter)
c.744+4116G>A (n.744+4116G>A)
n.3902G>A
c.151+4116G>A
c.2028G>A (p.Trp676Ter)
c.1833G>A (p.Trp611Ter)
c.2001G>A (p.Trp667Ter)
 ClinVar dbSNP
16g.89284413delCA2695223988ANKRD11c.2130del (p.Trp710CysfsTer9)
c.*1933del (n.*1933del)
c.1755del (p.Trp585CysfsTer9)
c.744+4116del (n.744+4116del)
n.3902del
c.151+4116del
c.2028del (p.Trp676CysfsTer9)
c.1833del (p.Trp611CysfsTer9)
c.2001del (p.Trp667CysfsTer9)
16g.89284413C>ACA397163122ANKRD11c.2129G>T (p.Trp710Leu)
c.*1932G>T (n.*1932G>T)
c.1754G>T (p.Trp585Leu)
c.744+4115G>T (n.744+4115G>T)
n.3901G>T
c.151+4115G>T
c.2027G>T (p.Trp676Leu)
c.1832G>T (p.Trp611Leu)
c.2000G>T (p.Trp667Leu)
16g.89284413C>GCA397163123ANKRD11c.2129G>C (p.Trp710Ser)
c.*1932G>C (n.*1932G>C)
c.1754G>C (p.Trp585Ser)
c.744+4115G>C (n.744+4115G>C)
n.3901G>C
c.151+4115G>C
c.2027G>C (p.Trp676Ser)
c.1832G>C (p.Trp611Ser)
c.2000G>C (p.Trp667Ser)
16g.89284413C>TCA397163124ANKRD11c.2129G>A (p.Trp710Ter)
c.*1932G>A (n.*1932G>A)
c.1754G>A (p.Trp585Ter)
c.744+4115G>A (n.744+4115G>A)
n.3901G>A
c.151+4115G>A
c.2027G>A (p.Trp676Ter)
c.1832G>A (p.Trp611Ter)
c.2000G>A (p.Trp667Ter)
16g.89284414A>CCA397163125ANKRD11c.2128T>G (p.Trp710Gly)
c.*1931T>G (n.*1931T>G)
c.1753T>G (p.Trp585Gly)
c.744+4114T>G (n.744+4114T>G)
n.3900T>G
c.151+4114T>G
c.2026T>G (p.Trp676Gly)
c.1831T>G (p.Trp611Gly)
c.1999T>G (p.Trp667Gly)
16g.89284414A>GCA397163126ANKRD11c.2128T>C (p.Trp710Arg)
c.*1931T>C (n.*1931T>C)
c.1753T>C (p.Trp585Arg)
c.744+4114T>C (n.744+4114T>C)
n.3900T>C
c.151+4114T>C
c.2026T>C (p.Trp676Arg)
c.1831T>C (p.Trp611Arg)
c.1999T>C (p.Trp667Arg)
16g.89284414A>TCA397163127ANKRD11c.2128T>A (p.Trp710Arg)
c.*1931T>A (n.*1931T>A)
c.1753T>A (p.Trp585Arg)
c.744+4114T>A (n.744+4114T>A)
n.3900T>A
c.151+4114T>A
c.2026T>A (p.Trp676Arg)
c.1831T>A (p.Trp611Arg)
c.1999T>A (p.Trp667Arg)
16g.89284415T>ACA397163129ANKRD11c.2127A>T (p.Glu709Asp)
c.*1930A>T (n.*1930A>T)
c.1752A>T (p.Glu584Asp)
c.744+4113A>T (n.744+4113A>T)
n.3899A>T
c.151+4113A>T
c.2025A>T (p.Glu675Asp)
c.1830A>T (p.Glu610Asp)
c.1998A>T (p.Glu666Asp)
16g.89284415T>CCA497375185ANKRD11c.2127A>G (p.Glu709=)
c.*1930A>G (n.*1930A>G)
c.1752A>G (p.Glu584=)
c.744+4113A>G (n.744+4113A>G)
n.3899A>G
c.151+4113A>G
c.2025A>G (p.Glu675=)
c.1830A>G (p.Glu610=)
c.1998A>G (p.Glu666=)
 dbSNP gnomAD v2 gnomAD v4
16g.89284415T>GCA397163128ANKRD11c.2127A>C (p.Glu709Asp)
c.*1930A>C (n.*1930A>C)
c.1752A>C (p.Glu584Asp)
c.744+4113A>C (n.744+4113A>C)
n.3899A>C
c.151+4113A>C
c.2025A>C (p.Glu675Asp)
c.1830A>C (p.Glu610Asp)
c.1998A>C (p.Glu666Asp)
 ClinVar
16g.89284415T=CA2241602554ANKRD11c.2127A= (p.Glu709=)
c.*1930A= (n.*1930A=)
c.1752A= (p.Glu584=)
c.744+4113A= (n.744+4113A=)
n.3899A=
c.151+4113A=
c.2025A= (p.Glu675=)
c.1830A= (p.Glu610=)
c.1998A= (p.Glu666=)
16g.89284416T>ACA397163130ANKRD11c.2126A>T (p.Glu709Val)
c.*1929A>T (n.*1929A>T)
c.1751A>T (p.Glu584Val)
c.744+4112A>T (n.744+4112A>T)
n.3898A>T
c.151+4112A>T
c.2024A>T (p.Glu675Val)
c.1829A>T (p.Glu610Val)
c.1997A>T (p.Glu666Val)
16g.89284416T>CCA397163131ANKRD11c.2126A>G (p.Glu709Gly)
c.*1929A>G (n.*1929A>G)
c.1751A>G (p.Glu584Gly)
c.744+4112A>G (n.744+4112A>G)
n.3898A>G
c.151+4112A>G
c.2024A>G (p.Glu675Gly)
c.1829A>G (p.Glu610Gly)
c.1997A>G (p.Glu666Gly)
 dbSNP gnomAD v4
16g.89284416T>GCA397163132ANKRD11c.2126A>C (p.Glu709Ala)
c.*1929A>C (n.*1929A>C)
c.1751A>C (p.Glu584Ala)
c.744+4112A>C (n.744+4112A>C)
n.3898A>C
c.151+4112A>C
c.2024A>C (p.Glu675Ala)
c.1829A>C (p.Glu610Ala)
c.1997A>C (p.Glu666Ala)
16g.89284416T=CA2241602556ANKRD11c.2126A= (p.Glu709=)
c.*1929A= (n.*1929A=)
c.1751A= (p.Glu584=)
c.744+4112A= (n.744+4112A=)
n.3898A=
c.151+4112A=
c.2024A= (p.Glu675=)
c.1829A= (p.Glu610=)
c.1997A= (p.Glu666=)
16g.89284417C>ACA397163133ANKRD11c.2125G>T (p.Glu709Ter)
c.*1928G>T (n.*1928G>T)
c.1750G>T (p.Glu584Ter)
c.744+4111G>T (n.744+4111G>T)
n.3897G>T
c.151+4111G>T
c.2023G>T (p.Glu675Ter)
c.1828G>T (p.Glu610Ter)
c.1996G>T (p.Glu666Ter)
16g.89284417C=CA2241602557ANKRD11c.2125G= (p.Glu709=)
c.*1928G= (n.*1928G=)
c.1750G= (p.Glu584=)
c.744+4111G= (n.744+4111G=)
n.3897G=
c.151+4111G=
c.2023G= (p.Glu675=)
c.1828G= (p.Glu610=)
c.1996G= (p.Glu666=)
16g.89284417C>GCA8242632ANKRD11c.2125G>C (p.Glu709Gln)
c.*1928G>C (n.*1928G>C)
c.1750G>C (p.Glu584Gln)
c.744+4111G>C (n.744+4111G>C)
n.3897G>C
c.151+4111G>C
c.2023G>C (p.Glu675Gln)
c.1828G>C (p.Glu610Gln)
c.1996G>C (p.Glu666Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284417C>TCA397163134ANKRD11c.2125G>A (p.Glu709Lys)
c.*1928G>A (n.*1928G>A)
c.1750G>A (p.Glu584Lys)
c.744+4111G>A (n.744+4111G>A)
n.3897G>A
c.151+4111G>A
c.2023G>A (p.Glu675Lys)
c.1828G>A (p.Glu610Lys)
c.1996G>A (p.Glu666Lys)
16g.89284418T>ACA397163135ANKRD11c.2124A>T (p.Lys708Asn)
c.*1927A>T (n.*1927A>T)
c.1749A>T (p.Lys583Asn)
c.744+4110A>T (n.744+4110A>T)
n.3896A>T
c.151+4110A>T
c.2022A>T (p.Lys674Asn)
c.1827A>T (p.Lys609Asn)
c.1995A>T (p.Lys665Asn)
 ClinVar dbSNP gnomAD v4
16g.89284418T>CCA497375187ANKRD11c.2124A>G (p.Lys708=)
c.*1927A>G (n.*1927A>G)
c.1749A>G (p.Lys583=)
c.744+4110A>G (n.744+4110A>G)
n.3896A>G
c.151+4110A>G
c.2022A>G (p.Lys674=)
c.1827A>G (p.Lys609=)
c.1995A>G (p.Lys665=)
 gnomAD v4
16g.89284418T>GCA397163136ANKRD11c.2124A>C (p.Lys708Asn)
c.*1927A>C (n.*1927A>C)
c.1749A>C (p.Lys583Asn)
c.744+4110A>C (n.744+4110A>C)
n.3896A>C
c.151+4110A>C
c.2022A>C (p.Lys674Asn)
c.1827A>C (p.Lys609Asn)
c.1995A>C (p.Lys665Asn)
16g.89284418T=CA2241602559ANKRD11c.2124A= (p.Lys708=)
c.*1927A= (n.*1927A=)
c.1749A= (p.Lys583=)
c.744+4110A= (n.744+4110A=)
n.3896A=
c.151+4110A=
c.2022A= (p.Lys674=)
c.1827A= (p.Lys609=)
c.1995A= (p.Lys665=)
16g.89284419T>ACA397163137ANKRD11c.2123A>T (p.Lys708Ile)
c.*1926A>T (n.*1926A>T)
c.1748A>T (p.Lys583Ile)
c.744+4109A>T (n.744+4109A>T)
n.3895A>T
c.151+4109A>T
c.2021A>T (p.Lys674Ile)
c.1826A>T (p.Lys609Ile)
c.1994A>T (p.Lys665Ile)
16g.89284419T>CCA397163138ANKRD11c.2123A>G (p.Lys708Arg)
c.*1926A>G (n.*1926A>G)
c.1748A>G (p.Lys583Arg)
c.744+4109A>G (n.744+4109A>G)
n.3895A>G
c.151+4109A>G
c.2021A>G (p.Lys674Arg)
c.1826A>G (p.Lys609Arg)
c.1994A>G (p.Lys665Arg)
16g.89284419T>GCA397163139ANKRD11c.2123A>C (p.Lys708Thr)
c.*1926A>C (n.*1926A>C)
c.1748A>C (p.Lys583Thr)
c.744+4109A>C (n.744+4109A>C)
n.3895A>C
c.151+4109A>C
c.2021A>C (p.Lys674Thr)
c.1826A>C (p.Lys609Thr)
c.1994A>C (p.Lys665Thr)
 gnomAD v4
16g.89284420T>ACA397163140ANKRD11c.2122A>T (p.Lys708Ter)
c.*1925A>T (n.*1925A>T)
c.1747A>T (p.Lys583Ter)
c.744+4108A>T (n.744+4108A>T)
n.3894A>T
c.151+4108A>T
c.2020A>T (p.Lys674Ter)
c.1825A>T (p.Lys609Ter)
c.1993A>T (p.Lys665Ter)
16g.89284420T>CCA397163141ANKRD11c.2122A>G (p.Lys708Glu)
c.*1925A>G (n.*1925A>G)
c.1747A>G (p.Lys583Glu)
c.744+4108A>G (n.744+4108A>G)
n.3894A>G
c.151+4108A>G
c.2020A>G (p.Lys674Glu)
c.1825A>G (p.Lys609Glu)
c.1993A>G (p.Lys665Glu)
16g.89284420T>GCA397163142ANKRD11c.2122A>C (p.Lys708Gln)
c.*1925A>C (n.*1925A>C)
c.1747A>C (p.Lys583Gln)
c.744+4108A>C (n.744+4108A>C)
n.3894A>C
c.151+4108A>C
c.2020A>C (p.Lys674Gln)
c.1825A>C (p.Lys609Gln)
c.1993A>C (p.Lys665Gln)
16g.89284420_89284423delinsTTTCCA2241602561ANKRD11c.2119_2122delinsGAAA (p.Glu707=)
c.*1922_*1925delinsGAAA (n.*1922_*1925delinsGAAA)
c.1744_1747delinsGAAA (p.Glu582=)
c.744+4105_744+4108delinsGAAA (n.744+4105_744+4108delinsGAAA)
n.3891_3894delinsGAAA
c.151+4105_151+4108delinsGAAA
c.2017_2020delinsGAAA (p.Glu673=)
c.1822_1825delinsGAAA (p.Glu608=)
c.1990_1993delinsGAAA (p.Glu664=)
16g.89284421T>ACA397163143ANKRD11c.2121A>T (p.Glu707Asp)
c.*1924A>T (n.*1924A>T)
c.1746A>T (p.Glu582Asp)
c.744+4107A>T (n.744+4107A>T)
n.3893A>T
c.151+4107A>T
c.2019A>T (p.Glu673Asp)
c.1824A>T (p.Glu608Asp)
c.1992A>T (p.Glu664Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.89284421T>CCA497375189ANKRD11c.2121A>G (p.Glu707=)
c.*1924A>G (n.*1924A>G)
c.1746A>G (p.Glu582=)
c.744+4107A>G (n.744+4107A>G)
n.3893A>G
c.151+4107A>G
c.2019A>G (p.Glu673=)
c.1824A>G (p.Glu608=)
c.1992A>G (p.Glu664=)
 dbSNP gnomAD v4
16g.89284421T>GCA397163144ANKRD11c.2121A>C (p.Glu707Asp)
c.*1924A>C (n.*1924A>C)
c.1746A>C (p.Glu582Asp)
c.744+4107A>C (n.744+4107A>C)
n.3893A>C
c.151+4107A>C
c.2019A>C (p.Glu673Asp)
c.1824A>C (p.Glu608Asp)
c.1992A>C (p.Glu664Asp)
16g.89284421T=CA2241602563ANKRD11c.2121A= (p.Glu707=)
c.*1924A= (n.*1924A=)
c.1746A= (p.Glu582=)
c.744+4107A= (n.744+4107A=)
n.3893A=
c.151+4107A=
c.2019A= (p.Glu673=)
c.1824A= (p.Glu608=)
c.1992A= (p.Glu664=)
16g.89284425_89284427delCA8242633ANKRD11c.2119_2121del (p.Glu707del)
c.*1922_*1924del (n.*1922_*1924del)
c.1744_1746del (p.Glu582del)
c.744+4105_744+4107del (n.744+4105_744+4107del)
n.3891_3893del
c.151+4105_151+4107del
c.2017_2019del (p.Glu673del)
c.1822_1824del (p.Glu608del)
c.1990_1992del (p.Glu664del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89284422T>ACA397163147ANKRD11c.2120A>T (p.Glu707Val)
c.*1923A>T (n.*1923A>T)
c.1745A>T (p.Glu582Val)
c.744+4106A>T (n.744+4106A>T)
n.3892A>T
c.151+4106A>T
c.2018A>T (p.Glu673Val)
c.1823A>T (p.Glu608Val)
c.1991A>T (p.Glu664Val)
16g.89284422T>CCA397163145ANKRD11c.2120A>G (p.Glu707Gly)
c.*1923A>G (n.*1923A>G)
c.1745A>G (p.Glu582Gly)
c.744+4106A>G (n.744+4106A>G)
n.3892A>G
c.151+4106A>G
c.2018A>G (p.Glu673Gly)
c.1823A>G (p.Glu608Gly)
c.1991A>G (p.Glu664Gly)
 gnomAD v4
16g.89284422T>GCA397163146ANKRD11c.2120A>C (p.Glu707Ala)
c.*1923A>C (n.*1923A>C)
c.1745A>C (p.Glu582Ala)
c.744+4106A>C (n.744+4106A>C)
n.3892A>C
c.151+4106A>C
c.2018A>C (p.Glu673Ala)
c.1823A>C (p.Glu608Ala)
c.1991A>C (p.Glu664Ala)
16g.89284423C>ACA397163148ANKRD11c.2119G>T (p.Glu707Ter)
c.*1922G>T (n.*1922G>T)
c.1744G>T (p.Glu582Ter)
c.744+4105G>T (n.744+4105G>T)
n.3891G>T
c.151+4105G>T
c.2017G>T (p.Glu673Ter)
c.1822G>T (p.Glu608Ter)
c.1990G>T (p.Glu664Ter)
16g.89284423C>GCA397163149ANKRD11c.2119G>C (p.Glu707Gln)
c.*1922G>C (n.*1922G>C)
c.1744G>C (p.Glu582Gln)
c.744+4105G>C (n.744+4105G>C)
n.3891G>C
c.151+4105G>C
c.2017G>C (p.Glu673Gln)
c.1822G>C (p.Glu608Gln)
c.1990G>C (p.Glu664Gln)
16g.89284423C>TCA397163150ANKRD11c.2119G>A (p.Glu707Lys)
c.*1922G>A (n.*1922G>A)
c.1744G>A (p.Glu582Lys)
c.744+4105G>A (n.744+4105G>A)
n.3891G>A
c.151+4105G>A
c.2017G>A (p.Glu673Lys)
c.1822G>A (p.Glu608Lys)
c.1990G>A (p.Glu664Lys)
 ClinVar gnomAD v4
16g.89284424T>ACA397163151ANKRD11c.2118A>T (p.Glu706Asp)
c.*1921A>T (n.*1921A>T)
c.1743A>T (p.Glu581Asp)
c.744+4104A>T (n.744+4104A>T)
n.3890A>T
c.151+4104A>T
c.2016A>T (p.Glu672Asp)
c.1821A>T (p.Glu607Asp)
c.1989A>T (p.Glu663Asp)
16g.89284424T>CCA497375192ANKRD11c.2118A>G (p.Glu706=)
c.*1921A>G (n.*1921A>G)
c.1743A>G (p.Glu581=)
c.744+4104A>G (n.744+4104A>G)
n.3890A>G
c.151+4104A>G
c.2016A>G (p.Glu672=)
c.1821A>G (p.Glu607=)
c.1989A>G (p.Glu663=)
16g.89284424T>GCA397163152ANKRD11c.2118A>C (p.Glu706Asp)
c.*1921A>C (n.*1921A>C)
c.1743A>C (p.Glu581Asp)
c.744+4104A>C (n.744+4104A>C)
n.3890A>C
c.151+4104A>C
c.2016A>C (p.Glu672Asp)
c.1821A>C (p.Glu607Asp)
c.1989A>C (p.Glu663Asp)
16g.89284425T>ACA397163153ANKRD11c.2117A>T (p.Glu706Val)
c.*1920A>T (n.*1920A>T)
c.1742A>T (p.Glu581Val)
c.744+4103A>T (n.744+4103A>T)
n.3889A>T
c.151+4103A>T
c.2015A>T (p.Glu672Val)
c.1820A>T (p.Glu607Val)
c.1988A>T (p.Glu663Val)
16g.89284425T>CCA397163154ANKRD11c.2117A>G (p.Glu706Gly)
c.*1920A>G (n.*1920A>G)
c.1742A>G (p.Glu581Gly)
c.744+4103A>G (n.744+4103A>G)
n.3889A>G
c.151+4103A>G
c.2015A>G (p.Glu672Gly)
c.1820A>G (p.Glu607Gly)
c.1988A>G (p.Glu663Gly)
16g.89284425T>GCA397163155ANKRD11c.2117A>C (p.Glu706Ala)
c.*1920A>C (n.*1920A>C)
c.1742A>C (p.Glu581Ala)
c.744+4103A>C (n.744+4103A>C)
n.3889A>C
c.151+4103A>C
c.2015A>C (p.Glu672Ala)
c.1820A>C (p.Glu607Ala)
c.1988A>C (p.Glu663Ala)
16g.89284426C>ACA397163156ANKRD11c.2116G>T (p.Glu706Ter)
c.*1919G>T (n.*1919G>T)
c.1741G>T (p.Glu581Ter)
c.744+4102G>T (n.744+4102G>T)
n.3888G>T
c.151+4102G>T
c.2014G>T (p.Glu672Ter)
c.1819G>T (p.Glu607Ter)
c.1987G>T (p.Glu663Ter)
16g.89284426C>GCA397163157ANKRD11c.2116G>C (p.Glu706Gln)
c.*1919G>C (n.*1919G>C)
c.1741G>C (p.Glu581Gln)
c.744+4102G>C (n.744+4102G>C)
n.3888G>C
c.151+4102G>C
c.2014G>C (p.Glu672Gln)
c.1819G>C (p.Glu607Gln)
c.1987G>C (p.Glu663Gln)
16g.89284426C>TCA397163158ANKRD11c.2116G>A (p.Glu706Lys)
c.*1919G>A (n.*1919G>A)
c.1741G>A (p.Glu581Lys)
c.744+4102G>A (n.744+4102G>A)
n.3888G>A
c.151+4102G>A
c.2014G>A (p.Glu672Lys)
c.1819G>A (p.Glu607Lys)
c.1987G>A (p.Glu663Lys)
16g.89284427T>ACA397163160ANKRD11c.2115A>T (p.Leu705Phe)
c.*1918A>T (n.*1918A>T)
c.1740A>T (p.Leu580Phe)
c.744+4101A>T (n.744+4101A>T)
n.3887A>T
c.151+4101A>T
c.2013A>T (p.Leu671Phe)
c.1818A>T (p.Leu606Phe)
c.1986A>T (p.Leu662Phe)
16g.89284427T>CCA497375195ANKRD11c.2115A>G (p.Leu705=)
c.*1918A>G (n.*1918A>G)
c.1740A>G (p.Leu580=)
c.744+4101A>G (n.744+4101A>G)
n.3887A>G
c.151+4101A>G
c.2013A>G (p.Leu671=)
c.1818A>G (p.Leu606=)
c.1986A>G (p.Leu662=)
 gnomAD v4
16g.89284427T>GCA397163159ANKRD11c.2115A>C (p.Leu705Phe)
c.*1918A>C (n.*1918A>C)
c.1740A>C (p.Leu580Phe)
c.744+4101A>C (n.744+4101A>C)
n.3887A>C
c.151+4101A>C
c.2013A>C (p.Leu671Phe)
c.1818A>C (p.Leu606Phe)
c.1986A>C (p.Leu662Phe)
16g.89284428A=CA2241602565ANKRD11c.2114T= (p.Leu705=)
c.*1917T= (n.*1917T=)
c.1739T= (p.Leu580=)
c.744+4100T= (n.744+4100T=)
n.3886T=
c.151+4100T=
c.2012T= (p.Leu671=)
c.1817T= (p.Leu606=)
c.1985T= (p.Leu662=)
16g.89284428A>CCA397163161ANKRD11c.2114T>G (p.Leu705Ter)
c.*1917T>G (n.*1917T>G)
c.1739T>G (p.Leu580Ter)
c.744+4100T>G (n.744+4100T>G)
n.3886T>G
c.151+4100T>G
c.2012T>G (p.Leu671Ter)
c.1817T>G (p.Leu606Ter)
c.1985T>G (p.Leu662Ter)
16g.89284428A>GCA397163162ANKRD11c.2114T>C (p.Leu705Ser)
c.*1917T>C (n.*1917T>C)
c.1739T>C (p.Leu580Ser)
c.744+4100T>C (n.744+4100T>C)
n.3886T>C
c.151+4100T>C
c.2012T>C (p.Leu671Ser)
c.1817T>C (p.Leu606Ser)
c.1985T>C (p.Leu662Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89284428A>TCA397163163ANKRD11c.2114T>A (p.Leu705Ter)
c.*1917T>A (n.*1917T>A)
c.1739T>A (p.Leu580Ter)
c.744+4100T>A (n.744+4100T>A)
n.3886T>A
c.151+4100T>A
c.2012T>A (p.Leu671Ter)
c.1817T>A (p.Leu606Ter)
c.1985T>A (p.Leu662Ter)
16g.89284429delCA2576120153ANKRD11c.2114del (p.Leu705Ter)
c.*1917del (n.*1917del)
c.1739del (p.Leu580Ter)
c.744+4100del (n.744+4100del)
n.3886del
c.151+4100del
c.2012del (p.Leu671Ter)
c.1817del (p.Leu606Ter)
c.1985del (p.Leu662Ter)
16g.89284429A=CA2241602567ANKRD11c.2113T= (p.Leu705=)
c.*1916T= (n.*1916T=)
c.1738T= (p.Leu580=)
c.744+4099T= (n.744+4099T=)
n.3885T=
c.151+4099T=
c.2011T= (p.Leu671=)
c.1816T= (p.Leu606=)
c.1984T= (p.Leu662=)
16g.89284429A>CCA397163164ANKRD11c.2113T>G (p.Leu705Val)
c.*1916T>G (n.*1916T>G)
c.1738T>G (p.Leu580Val)
c.744+4099T>G (n.744+4099T>G)
n.3885T>G
c.151+4099T>G
c.2011T>G (p.Leu671Val)
c.1816T>G (p.Leu606Val)
c.1984T>G (p.Leu662Val)
16g.89284429A>GCA497375197ANKRD11c.2113T>C (p.Leu705=)
c.*1916T>C (n.*1916T>C)
c.1738T>C (p.Leu580=)
c.744+4099T>C (n.744+4099T>C)
n.3885T>C
c.151+4099T>C
c.2011T>C (p.Leu671=)
c.1816T>C (p.Leu606=)
c.1984T>C (p.Leu662=)
 dbSNP
16g.89284429A>TCA286519632ANKRD11c.2113T>A (p.Leu705Ile)
c.*1916T>A (n.*1916T>A)
c.1738T>A (p.Leu580Ile)
c.744+4099T>A (n.744+4099T>A)
n.3885T>A
c.151+4099T>A
c.2011T>A (p.Leu671Ile)
c.1816T>A (p.Leu606Ile)
c.1984T>A (p.Leu662Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.89284430T>ACA397163165ANKRD11c.2112A>T (p.Lys704Asn)
c.*1915A>T (n.*1915A>T)
c.1737A>T (p.Lys579Asn)
c.744+4098A>T (n.744+4098A>T)
n.3884A>T
c.151+4098A>T
c.2010A>T (p.Lys670Asn)
c.1815A>T (p.Lys605Asn)
c.1983A>T (p.Lys661Asn)
16g.89284430T>CCA497375198ANKRD11c.2112A>G (p.Lys704=)
c.*1915A>G (n.*1915A>G)
c.1737A>G (p.Lys579=)
c.744+4098A>G (n.744+4098A>G)
n.3884A>G
c.151+4098A>G
c.2010A>G (p.Lys670=)
c.1815A>G (p.Lys605=)
c.1983A>G (p.Lys661=)
 dbSNP gnomAD v3 gnomAD v4
16g.89284430T>GCA397163166ANKRD11c.2112A>C (p.Lys704Asn)
c.*1915A>C (n.*1915A>C)
c.1737A>C (p.Lys579Asn)
c.744+4098A>C (n.744+4098A>C)
n.3884A>C
c.151+4098A>C
c.2010A>C (p.Lys670Asn)
c.1815A>C (p.Lys605Asn)
c.1983A>C (p.Lys661Asn)
16g.89284430T=CA2241602569ANKRD11c.2112A= (p.Lys704=)
c.*1915A= (n.*1915A=)
c.1737A= (p.Lys579=)
c.744+4098A= (n.744+4098A=)
n.3884A=
c.151+4098A=
c.2010A= (p.Lys670=)
c.1815A= (p.Lys605=)
c.1983A= (p.Lys661=)
16g.89284431_89284432delCA2695223989ANKRD11c.2111_2112del (p.Lys704IlefsTer9)
c.*1914_*1915del (n.*1914_*1915del)
c.1736_1737del (p.Lys579IlefsTer9)
c.744+4097_744+4098del (n.744+4097_744+4098del)
n.3883_3884del
c.151+4097_151+4098del
c.2009_2010del (p.Lys670IlefsTer9)
c.1814_1815del (p.Lys605IlefsTer9)
c.1982_1983del (p.Lys661IlefsTer9)
16g.89284431T>ACA397163167ANKRD11c.2111A>T (p.Lys704Ile)
c.*1914A>T (n.*1914A>T)
c.1736A>T (p.Lys579Ile)
c.744+4097A>T (n.744+4097A>T)
n.3883A>T
c.151+4097A>T
c.2009A>T (p.Lys670Ile)
c.1814A>T (p.Lys605Ile)
c.1982A>T (p.Lys661Ile)
16g.89284431T>CCA397163168ANKRD11c.2111A>G (p.Lys704Arg)
c.*1914A>G (n.*1914A>G)
c.1736A>G (p.Lys579Arg)
c.744+4097A>G (n.744+4097A>G)
n.3883A>G
c.151+4097A>G
c.2009A>G (p.Lys670Arg)
c.1814A>G (p.Lys605Arg)
c.1982A>G (p.Lys661Arg)
16g.89284431T>GCA397163169ANKRD11c.2111A>C (p.Lys704Thr)
c.*1914A>C (n.*1914A>C)
c.1736A>C (p.Lys579Thr)
c.744+4097A>C (n.744+4097A>C)
n.3883A>C
c.151+4097A>C
c.2009A>C (p.Lys670Thr)
c.1814A>C (p.Lys605Thr)
c.1982A>C (p.Lys661Thr)
16g.89284432T>ACA397163170ANKRD11c.2110A>T (p.Lys704Ter)
c.*1913A>T (n.*1913A>T)
c.1735A>T (p.Lys579Ter)
c.744+4096A>T (n.744+4096A>T)
n.3882A>T
c.151+4096A>T
c.2008A>T (p.Lys670Ter)
c.1813A>T (p.Lys605Ter)
c.1981A>T (p.Lys661Ter)
16g.89284432T>CCA397163171ANKRD11c.2110A>G (p.Lys704Glu)
c.*1913A>G (n.*1913A>G)
c.1735A>G (p.Lys579Glu)
c.744+4096A>G (n.744+4096A>G)
n.3882A>G
c.151+4096A>G
c.2008A>G (p.Lys670Glu)
c.1813A>G (p.Lys605Glu)
c.1981A>G (p.Lys661Glu)
16g.89284432T>GCA397163172ANKRD11c.2110A>C (p.Lys704Gln)
c.*1913A>C (n.*1913A>C)
c.1735A>C (p.Lys579Gln)
c.744+4096A>C (n.744+4096A>C)
n.3882A>C
c.151+4096A>C
c.2008A>C (p.Lys670Gln)
c.1813A>C (p.Lys605Gln)
c.1981A>C (p.Lys661Gln)
16g.89284433C>ACA397163175ANKRD11c.2109G>T (p.Met703Ile)
c.*1912G>T (n.*1912G>T)
c.1734G>T (p.Met578Ile)
c.744+4095G>T (n.744+4095G>T)
n.3881G>T
c.151+4095G>T
c.2007G>T (p.Met669Ile)
c.1812G>T (p.Met604Ile)
c.1980G>T (p.Met660Ile)
16g.89284433C>GCA397163174ANKRD11c.2109G>C (p.Met703Ile)
c.*1912G>C (n.*1912G>C)
c.1734G>C (p.Met578Ile)
c.744+4095G>C (n.744+4095G>C)
n.3881G>C
c.151+4095G>C
c.2007G>C (p.Met669Ile)
c.1812G>C (p.Met604Ile)
c.1980G>C (p.Met660Ile)
16g.89284433C>TCA397163173ANKRD11c.2109G>A (p.Met703Ile)
c.*1912G>A (n.*1912G>A)
c.1734G>A (p.Met578Ile)
c.744+4095G>A (n.744+4095G>A)
n.3881G>A
c.151+4095G>A
c.2007G>A (p.Met669Ile)
c.1812G>A (p.Met604Ile)
c.1980G>A (p.Met660Ile)
16g.89284434A>CCA397163178ANKRD11c.2108T>G (p.Met703Arg)
c.*1911T>G (n.*1911T>G)
c.1733T>G (p.Met578Arg)
c.744+4094T>G (n.744+4094T>G)
n.3880T>G
c.151+4094T>G
c.2006T>G (p.Met669Arg)
c.1811T>G (p.Met604Arg)
c.1979T>G (p.Met660Arg)
16g.89284434A>GCA397163176ANKRD11c.2108T>C (p.Met703Thr)
c.*1911T>C (n.*1911T>C)
c.1733T>C (p.Met578Thr)
c.744+4094T>C (n.744+4094T>C)
n.3880T>C
c.151+4094T>C
c.2006T>C (p.Met669Thr)
c.1811T>C (p.Met604Thr)
c.1979T>C (p.Met660Thr)
16g.89284434A>TCA397163177ANKRD11c.2108T>A (p.Met703Lys)
c.*1911T>A (n.*1911T>A)
c.1733T>A (p.Met578Lys)
c.744+4094T>A (n.744+4094T>A)
n.3880T>A
c.151+4094T>A
c.2006T>A (p.Met669Lys)
c.1811T>A (p.Met604Lys)
c.1979T>A (p.Met660Lys)
16g.89284435T>ACA397163179ANKRD11c.2107A>T (p.Met703Leu)
c.*1910A>T (n.*1910A>T)
c.1732A>T (p.Met578Leu)
c.744+4093A>T (n.744+4093A>T)
n.3879A>T
c.151+4093A>T
c.2005A>T (p.Met669Leu)
c.1810A>T (p.Met604Leu)
c.1978A>T (p.Met660Leu)
16g.89284435T>CCA397163180ANKRD11c.2107A>G (p.Met703Val)
c.*1910A>G (n.*1910A>G)
c.1732A>G (p.Met578Val)
c.744+4093A>G (n.744+4093A>G)
n.3879A>G
c.151+4093A>G
c.2005A>G (p.Met669Val)
c.1810A>G (p.Met604Val)
c.1978A>G (p.Met660Val)
16g.89284435T>GCA397163181ANKRD11c.2107A>C (p.Met703Leu)
c.*1910A>C (n.*1910A>C)
c.1732A>C (p.Met578Leu)
c.744+4093A>C (n.744+4093A>C)
n.3879A>C
c.151+4093A>C
c.2005A>C (p.Met669Leu)
c.1810A>C (p.Met604Leu)
c.1978A>C (p.Met660Leu)
 dbSNP
16g.89284435T=CA2241602570ANKRD11c.2107A= (p.Met703=)
c.*1910A= (n.*1910A=)
c.1732A= (p.Met578=)
c.744+4093A= (n.744+4093A=)
n.3879A=
c.151+4093A=
c.2005A= (p.Met669=)
c.1810A= (p.Met604=)
c.1978A= (p.Met660=)
16g.89284436T>ACA397163182ANKRD11c.2106A>T (p.Lys702Asn)
c.*1909A>T (n.*1909A>T)
c.1731A>T (p.Lys577Asn)
c.744+4092A>T (n.744+4092A>T)
n.3878A>T
c.151+4092A>T
c.2004A>T (p.Lys668Asn)
c.1809A>T (p.Lys603Asn)
c.1977A>T (p.Lys659Asn)
16g.89284436T>CCA497375201ANKRD11c.2106A>G (p.Lys702=)
c.*1909A>G (n.*1909A>G)
c.1731A>G (p.Lys577=)
c.744+4092A>G (n.744+4092A>G)
n.3878A>G
c.151+4092A>G
c.2004A>G (p.Lys668=)
c.1809A>G (p.Lys603=)
c.1977A>G (p.Lys659=)
16g.89284436T>GCA397163183ANKRD11c.2106A>C (p.Lys702Asn)
c.*1909A>C (n.*1909A>C)
c.1731A>C (p.Lys577Asn)
c.744+4092A>C (n.744+4092A>C)
n.3878A>C
c.151+4092A>C
c.2004A>C (p.Lys668Asn)
c.1809A>C (p.Lys603Asn)
c.1977A>C (p.Lys659Asn)
16g.89284437T>ACA397163184ANKRD11c.2105A>T (p.Lys702Ile)
c.*1908A>T (n.*1908A>T)
c.1730A>T (p.Lys577Ile)
c.744+4091A>T (n.744+4091A>T)
n.3877A>T
c.151+4091A>T
c.2003A>T (p.Lys668Ile)
c.1808A>T (p.Lys603Ile)
c.1976A>T (p.Lys659Ile)
16g.89284437T>CCA397163185ANKRD11c.2105A>G (p.Lys702Arg)
c.*1908A>G (n.*1908A>G)
c.1730A>G (p.Lys577Arg)
c.744+4091A>G (n.744+4091A>G)
n.3877A>G
c.151+4091A>G
c.2003A>G (p.Lys668Arg)
c.1808A>G (p.Lys603Arg)
c.1976A>G (p.Lys659Arg)
16g.89284437T>GCA397163186ANKRD11c.2105A>C (p.Lys702Thr)
c.*1908A>C (n.*1908A>C)
c.1730A>C (p.Lys577Thr)
c.744+4091A>C (n.744+4091A>C)
n.3877A>C
c.151+4091A>C
c.2003A>C (p.Lys668Thr)
c.1808A>C (p.Lys603Thr)
c.1976A>C (p.Lys659Thr)
16g.89284438T>ACA397163187ANKRD11c.2104A>T (p.Lys702Ter)
c.*1907A>T (n.*1907A>T)
c.1729A>T (p.Lys577Ter)
c.744+4090A>T (n.744+4090A>T)
n.3876A>T
c.151+4090A>T
c.2002A>T (p.Lys668Ter)
c.1807A>T (p.Lys603Ter)
c.1975A>T (p.Lys659Ter)
16g.89284438T>CCA397163188ANKRD11c.2104A>G (p.Lys702Glu)
c.*1907A>G (n.*1907A>G)
c.1729A>G (p.Lys577Glu)
c.744+4090A>G (n.744+4090A>G)
n.3876A>G
c.151+4090A>G
c.2002A>G (p.Lys668Glu)
c.1807A>G (p.Lys603Glu)
c.1975A>G (p.Lys659Glu)
16g.89284438T>GCA397163189ANKRD11c.2104A>C (p.Lys702Gln)
c.*1907A>C (n.*1907A>C)
c.1729A>C (p.Lys577Gln)
c.744+4090A>C (n.744+4090A>C)
n.3876A>C
c.151+4090A>C
c.2002A>C (p.Lys668Gln)
c.1807A>C (p.Lys603Gln)
c.1975A>C (p.Lys659Gln)
16g.89284438_89284440delinsGGCA2695223990ANKRD11c.2102_2104delinsCC (p.Ser701ThrfsTer3)
c.*1905_*1907delinsCC (n.*1905_*1907delinsCC)
c.1727_1729delinsCC (p.Ser576ThrfsTer3)
c.744+4088_744+4090delinsCC (n.744+4088_744+4090delinsCC)
n.3874_3876delinsCC
c.151+4088_151+4090delinsCC
c.2000_2002delinsCC (p.Ser667ThrfsTer3)
c.1805_1807delinsCC (p.Ser602ThrfsTer3)
c.1973_1975delinsCC (p.Ser658ThrfsTer3)
16g.89284439G>ACA497375205ANKRD11c.2103C>T (p.Ser701=)
c.*1906C>T (n.*1906C>T)
c.1728C>T (p.Ser576=)
c.744+4089C>T (n.744+4089C>T)
n.3875C>T
c.151+4089C>T
c.2001C>T (p.Ser667=)
c.1806C>T (p.Ser602=)
c.1974C>T (p.Ser658=)
16g.89284439G>CCA397163191ANKRD11c.2103C>G (p.Ser701Arg)
c.*1906C>G (n.*1906C>G)
c.1728C>G (p.Ser576Arg)
c.744+4089C>G (n.744+4089C>G)
n.3875C>G
c.151+4089C>G
c.2001C>G (p.Ser667Arg)
c.1806C>G (p.Ser602Arg)
c.1974C>G (p.Ser658Arg)
 dbSNP
16g.89284439G=CA2241602572ANKRD11c.2103C= (p.Ser701=)
c.*1906C= (n.*1906C=)
c.1728C= (p.Ser576=)
c.744+4089C= (n.744+4089C=)
n.3875C=
c.151+4089C=
c.2001C= (p.Ser667=)
c.1806C= (p.Ser602=)
c.1974C= (p.Ser658=)
16g.89284439G>TCA397163190ANKRD11c.2103C>A (p.Ser701Arg)
c.*1906C>A (n.*1906C>A)
c.1728C>A (p.Ser576Arg)
c.744+4089C>A (n.744+4089C>A)
n.3875C>A
c.151+4089C>A
c.2001C>A (p.Ser667Arg)
c.1806C>A (p.Ser602Arg)
c.1974C>A (p.Ser658Arg)
 gnomAD v4
16g.89284440C>ACA397163192ANKRD11c.2102G>T (p.Ser701Ile)
c.*1905G>T (n.*1905G>T)
c.1727G>T (p.Ser576Ile)
c.744+4088G>T (n.744+4088G>T)
n.3874G>T
c.151+4088G>T
c.2000G>T (p.Ser667Ile)
c.1805G>T (p.Ser602Ile)
c.1973G>T (p.Ser658Ile)
16g.89284440C=CA2241602573ANKRD11c.2102G= (p.Ser701=)
c.*1905G= (n.*1905G=)
c.1727G= (p.Ser576=)
c.744+4088G= (n.744+4088G=)
n.3874G=
c.151+4088G=
c.2000G= (p.Ser667=)
c.1805G= (p.Ser602=)
c.1973G= (p.Ser658=)
16g.89284440C>GCA397163193ANKRD11c.2102G>C (p.Ser701Thr)
c.*1905G>C (n.*1905G>C)
c.1727G>C (p.Ser576Thr)
c.744+4088G>C (n.744+4088G>C)
n.3874G>C
c.151+4088G>C
c.2000G>C (p.Ser667Thr)
c.1805G>C (p.Ser602Thr)
c.1973G>C (p.Ser658Thr)
16g.89284440C>TCA397163194ANKRD11c.2102G>A (p.Ser701Asn)
c.*1905G>A (n.*1905G>A)
c.1727G>A (p.Ser576Asn)
c.744+4088G>A (n.744+4088G>A)
n.3874G>A
c.151+4088G>A
c.2000G>A (p.Ser667Asn)
c.1805G>A (p.Ser602Asn)
c.1973G>A (p.Ser658Asn)
 dbSNP gnomAD v3 gnomAD v4
16g.89284441T>ACA397163195ANKRD11c.2101A>T (p.Ser701Cys)
c.*1904A>T (n.*1904A>T)
c.1726A>T (p.Ser576Cys)
c.744+4087A>T (n.744+4087A>T)
n.3873A>T
c.151+4087A>T
c.1999A>T (p.Ser667Cys)
c.1804A>T (p.Ser602Cys)
c.1972A>T (p.Ser658Cys)
16g.89284441T>CCA397163196ANKRD11c.2101A>G (p.Ser701Gly)
c.*1904A>G (n.*1904A>G)
c.1726A>G (p.Ser576Gly)
c.744+4087A>G (n.744+4087A>G)
n.3873A>G
c.151+4087A>G
c.1999A>G (p.Ser667Gly)
c.1804A>G (p.Ser602Gly)
c.1972A>G (p.Ser658Gly)
16g.89284441T>GCA397163197ANKRD11c.2101A>C (p.Ser701Arg)
c.*1904A>C (n.*1904A>C)
c.1726A>C (p.Ser576Arg)
c.744+4087A>C (n.744+4087A>C)
n.3873A>C
c.151+4087A>C
c.1999A>C (p.Ser667Arg)
c.1804A>C (p.Ser602Arg)
c.1972A>C (p.Ser658Arg)
16g.89284442A>CCA497375209ANKRD11c.2100T>G (p.Leu700=)
c.*1903T>G (n.*1903T>G)
c.1725T>G (p.Leu575=)
c.744+4086T>G (n.744+4086T>G)
n.3872T>G
c.151+4086T>G
c.1998T>G (p.Leu666=)
c.1803T>G (p.Leu601=)
c.1971T>G (p.Leu657=)
16g.89284442A>GCA497375208ANKRD11c.2100T>C (p.Leu700=)
c.*1903T>C (n.*1903T>C)
c.1725T>C (p.Leu575=)
c.744+4086T>C (n.744+4086T>C)
n.3872T>C
c.151+4086T>C
c.1998T>C (p.Leu666=)
c.1803T>C (p.Leu601=)
c.1971T>C (p.Leu657=)
16g.89284442A>TCA497375207ANKRD11c.2100T>A (p.Leu700=)
c.*1903T>A (n.*1903T>A)
c.1725T>A (p.Leu575=)
c.744+4086T>A (n.744+4086T>A)
n.3872T>A
c.151+4086T>A
c.1998T>A (p.Leu666=)
c.1803T>A (p.Leu601=)
c.1971T>A (p.Leu657=)
16g.89284443A>CCA397163198ANKRD11c.2099T>G (p.Leu700Arg)
c.*1902T>G (n.*1902T>G)
c.1724T>G (p.Leu575Arg)
c.744+4085T>G (n.744+4085T>G)
n.3871T>G
c.151+4085T>G
c.1997T>G (p.Leu666Arg)
c.1802T>G (p.Leu601Arg)
c.1970T>G (p.Leu657Arg)
16g.89284443A>GCA397163199ANKRD11c.2099T>C (p.Leu700Pro)
c.*1902T>C (n.*1902T>C)
c.1724T>C (p.Leu575Pro)
c.744+4085T>C (n.744+4085T>C)
n.3871T>C
c.151+4085T>C
c.1997T>C (p.Leu666Pro)
c.1802T>C (p.Leu601Pro)
c.1970T>C (p.Leu657Pro)
 gnomAD v4
16g.89284443A>TCA397163200ANKRD11c.2099T>A (p.Leu700His)
c.*1902T>A (n.*1902T>A)
c.1724T>A (p.Leu575His)
c.744+4085T>A (n.744+4085T>A)
n.3871T>A
c.151+4085T>A
c.1997T>A (p.Leu666His)
c.1802T>A (p.Leu601His)
c.1970T>A (p.Leu657His)
16g.89284443_89284458delinsAGTTTCTCTTCTTTTTCA2241602575ANKRD11c.2084_2099delinsAAAAAGAAGAGAAACT (p.Lys695=)
c.*1887_*1902delinsAAAAAGAAGAGAAACT (n.*1887_*1902delinsAAAAAGAAGAGAAACT)
c.1709_1724delinsAAAAAGAAGAGAAACT (p.Lys570=)
c.744+4070_744+4085delinsAAAAAGAAGAGAAACT (n.744+4070_744+4085delinsAAAAAGAAGAGAAACT)
n.3856_3871delinsAAAAAGAAGAGAAACT
c.151+4070_151+4085delinsAAAAAGAAGAGAAACT
c.1982_1997delinsAAAAAGAAGAGAAACT (p.Lys661=)
c.1787_1802delinsAAAAAGAAGAGAAACT (p.Lys596=)
c.1955_1970delinsAAAAAGAAGAGAAACT (p.Lys652=)
16g.89284444G>ACA397163201ANKRD11c.2098C>T (p.Leu700Phe)
c.*1901C>T (n.*1901C>T)
c.1723C>T (p.Leu575Phe)
c.744+4084C>T (n.744+4084C>T)
n.3870C>T
c.151+4084C>T
c.1996C>T (p.Leu666Phe)
c.1801C>T (p.Leu601Phe)
c.1969C>T (p.Leu657Phe)
16g.89284444G>CCA8242634ANKRD11c.2098C>G (p.Leu700Val)
c.*1901C>G (n.*1901C>G)
c.1723C>G (p.Leu575Val)
c.744+4084C>G (n.744+4084C>G)
n.3870C>G
c.151+4084C>G
c.1996C>G (p.Leu666Val)
c.1801C>G (p.Leu601Val)
c.1969C>G (p.Leu657Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89284444G=CA2241602577ANKRD11c.2098C= (p.Leu700=)
c.*1901C= (n.*1901C=)
c.1723C= (p.Leu575=)
c.744+4084C= (n.744+4084C=)
n.3870C=
c.151+4084C=
c.1996C= (p.Leu666=)
c.1801C= (p.Leu601=)
c.1969C= (p.Leu657=)
16g.89284444G>TCA397163202ANKRD11c.2098C>A (p.Leu700Ile)
c.*1901C>A (n.*1901C>A)
c.1723C>A (p.Leu575Ile)
c.744+4084C>A (n.744+4084C>A)
n.3870C>A
c.151+4084C>A
c.1996C>A (p.Leu666Ile)
c.1801C>A (p.Leu601Ile)
c.1969C>A (p.Leu657Ile)
16g.89284444_89284458delCA624452407ANKRD11c.2084_2098del (p.Lys695_Leu700delinsIle)
c.*1887_*1901del (n.*1887_*1901del)
c.1709_1723del (p.Lys570_Leu575delinsIle)
c.744+4070_744+4084del (n.744+4070_744+4084del)
n.3856_3870del
c.151+4070_151+4084del
c.1982_1996del (p.Lys661_Leu666delinsIle)
c.1787_1801del (p.Lys596_Leu601delinsIle)
c.1955_1969del (p.Lys652_Leu657delinsIle)
 dbSNP gnomAD v2 gnomAD v4
16g.89284445T>ACA397163203ANKRD11c.2097A>T (p.Lys699Asn)
c.*1900A>T (n.*1900A>T)
c.1722A>T (p.Lys574Asn)
c.744+4083A>T (n.744+4083A>T)
n.3869A>T
c.151+4083A>T
c.1995A>T (p.Lys665Asn)
c.1800A>T (p.Lys600Asn)
c.1968A>T (p.Lys656Asn)
16g.89284445T>CCA497375213ANKRD11c.2097A>G (p.Lys699=)
c.*1900A>G (n.*1900A>G)
c.1722A>G (p.Lys574=)
c.744+4083A>G (n.744+4083A>G)
n.3869A>G
c.151+4083A>G
c.1995A>G (p.Lys665=)
c.1800A>G (p.Lys600=)
c.1968A>G (p.Lys656=)
16g.89284445T>GCA397163204ANKRD11c.2097A>C (p.Lys699Asn)
c.*1900A>C (n.*1900A>C)
c.1722A>C (p.Lys574Asn)
c.744+4083A>C (n.744+4083A>C)
n.3869A>C
c.151+4083A>C
c.1995A>C (p.Lys665Asn)
c.1800A>C (p.Lys600Asn)
c.1968A>C (p.Lys656Asn)
16g.89284445_89284450delinsTTTCTCCA2241602579ANKRD11c.2092_2097delinsGAGAAA (p.Glu698=)
c.*1895_*1900delinsGAGAAA (n.*1895_*1900delinsGAGAAA)
c.1717_1722delinsGAGAAA (p.Glu573=)
c.744+4078_744+4083delinsGAGAAA (n.744+4078_744+4083delinsGAGAAA)
n.3864_3869delinsGAGAAA
c.151+4078_151+4083delinsGAGAAA
c.1990_1995delinsGAGAAA (p.Glu664=)
c.1795_1800delinsGAGAAA (p.Glu599=)
c.1963_1968delinsGAGAAA (p.Glu655=)
16g.89284446T>ACA397163206ANKRD11c.2096A>T (p.Lys699Ile)
c.*1899A>T (n.*1899A>T)
c.1721A>T (p.Lys574Ile)
c.744+4082A>T (n.744+4082A>T)
n.3868A>T
c.151+4082A>T
c.1994A>T (p.Lys665Ile)
c.1799A>T (p.Lys600Ile)
c.1967A>T (p.Lys656Ile)
16g.89284446T>CCA397163207ANKRD11c.2096A>G (p.Lys699Arg)
c.*1899A>G (n.*1899A>G)
c.1721A>G (p.Lys574Arg)
c.744+4082A>G (n.744+4082A>G)
n.3868A>G
c.151+4082A>G
c.1994A>G (p.Lys665Arg)
c.1799A>G (p.Lys600Arg)
c.1967A>G (p.Lys656Arg)
16g.89284446T>GCA397163205ANKRD11c.2096A>C (p.Lys699Thr)
c.*1899A>C (n.*1899A>C)
c.1721A>C (p.Lys574Thr)
c.744+4082A>C (n.744+4082A>C)
n.3868A>C
c.151+4082A>C
c.1994A>C (p.Lys665Thr)
c.1799A>C (p.Lys600Thr)
c.1967A>C (p.Lys656Thr)
16g.89284450_89284454delCA1139664890ANKRD11c.2092_2096del (p.Glu698ThrfsTer2)
c.*1895_*1899del (n.*1895_*1899del)
c.1717_1721del (p.Glu573ThrfsTer2)
c.744+4078_744+4082del (n.744+4078_744+4082del)
n.3864_3868del
c.151+4078_151+4082del
c.1990_1994del (p.Glu664ThrfsTer2)
c.1795_1799del (p.Glu599ThrfsTer2)
c.1963_1967del (p.Glu655ThrfsTer2)
 ClinVar dbSNP
16g.89284447T>ACA397163208ANKRD11c.2095A>T (p.Lys699Ter)
c.*1898A>T (n.*1898A>T)
c.1720A>T (p.Lys574Ter)
c.744+4081A>T (n.744+4081A>T)
n.3867A>T
c.151+4081A>T
c.1993A>T (p.Lys665Ter)
c.1798A>T (p.Lys600Ter)
c.1966A>T (p.Lys656Ter)
16g.89284447T>CCA397163210ANKRD11c.2095A>G (p.Lys699Glu)
c.*1898A>G (n.*1898A>G)
c.1720A>G (p.Lys574Glu)
c.744+4081A>G (n.744+4081A>G)
n.3867A>G
c.151+4081A>G
c.1993A>G (p.Lys665Glu)
c.1798A>G (p.Lys600Glu)
c.1966A>G (p.Lys656Glu)
 gnomAD v4
16g.89284447T>GCA397163209ANKRD11c.2095A>C (p.Lys699Gln)
c.*1898A>C (n.*1898A>C)
c.1720A>C (p.Lys574Gln)
c.744+4081A>C (n.744+4081A>C)
n.3867A>C
c.151+4081A>C
c.1993A>C (p.Lys665Gln)
c.1798A>C (p.Lys600Gln)
c.1966A>C (p.Lys656Gln)
16g.89284448C>ACA397163211ANKRD11c.2094G>T (p.Glu698Asp)
c.*1897G>T (n.*1897G>T)
c.1719G>T (p.Glu573Asp)
c.744+4080G>T (n.744+4080G>T)
n.3866G>T
c.151+4080G>T
c.1992G>T (p.Glu664Asp)
c.1797G>T (p.Glu599Asp)
c.1965G>T (p.Glu655Asp)
16g.89284448C=CA2241602582ANKRD11c.2094G= (p.Glu698=)
c.*1897G= (n.*1897G=)
c.1719G= (p.Glu573=)
c.744+4080G= (n.744+4080G=)
n.3866G=
c.151+4080G=
c.1992G= (p.Glu664=)
c.1797G= (p.Glu599=)
c.1965G= (p.Glu655=)
16g.89284448C>GCA397163212ANKRD11c.2094G>C (p.Glu698Asp)
c.*1897G>C (n.*1897G>C)
c.1719G>C (p.Glu573Asp)
c.744+4080G>C (n.744+4080G>C)
n.3866G>C
c.151+4080G>C
c.1992G>C (p.Glu664Asp)
c.1797G>C (p.Glu599Asp)
c.1965G>C (p.Glu655Asp)
 dbSNP
16g.89284448C>TCA497375216ANKRD11c.2094G>A (p.Glu698=)
c.*1897G>A (n.*1897G>A)
c.1719G>A (p.Glu573=)
c.744+4080G>A (n.744+4080G>A)
n.3866G>A
c.151+4080G>A
c.1992G>A (p.Glu664=)
c.1797G>A (p.Glu599=)
c.1965G>A (p.Glu655=)

Number of alleles fetched