Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89280380A=CA2241587374ANKRD11c.6162T= (p.Ala2054=)
c.*5965T= (n.*5965T=)
c.745-5189T= (n.745-5189T=)
c.152-5189T=
c.6060T= (p.Ala2020=)
c.5865T= (p.Ala1955=)
c.6033T= (p.Ala2011=)
16g.89280380A>CCA497373271ANKRD11c.6162T>G (p.Ala2054=)
c.*5965T>G (n.*5965T>G)
c.745-5189T>G (n.745-5189T>G)
c.152-5189T>G
c.6060T>G (p.Ala2020=)
c.5865T>G (p.Ala1955=)
c.6033T>G (p.Ala2011=)
16g.89280380A>GCA497373272ANKRD11c.6162T>C (p.Ala2054=)
c.*5965T>C (n.*5965T>C)
c.745-5189T>C (n.745-5189T>C)
c.152-5189T>C
c.6060T>C (p.Ala2020=)
c.5865T>C (p.Ala1955=)
c.6033T>C (p.Ala2011=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280380A>TCA497373273ANKRD11c.6162T>A (p.Ala2054=)
c.*5965T>A (n.*5965T>A)
c.745-5189T>A (n.745-5189T>A)
c.152-5189T>A
c.6060T>A (p.Ala2020=)
c.5865T>A (p.Ala1955=)
c.6033T>A (p.Ala2011=)
16g.89280380_89280383delCA2695223929ANKRD11c.6159_6162del (p.Ala2054ProfsTer?)
c.*5962_*5965del (n.*5962_*5965del)
c.745-5192_745-5189del (n.745-5192_745-5189del)
c.152-5192_152-5189del
c.6057_6060del (p.Ala2020ProfsTer?)
c.5862_5865del (p.Ala1955ProfsTer?)
c.6030_6033del (p.Ala2011ProfsTer?)
16g.89280381G>ACA397151913ANKRD11c.6161C>T (p.Ala2054Val)
c.*5964C>T (n.*5964C>T)
c.745-5190C>T (n.745-5190C>T)
c.152-5190C>T
c.6059C>T (p.Ala2020Val)
c.5864C>T (p.Ala1955Val)
c.6032C>T (p.Ala2011Val)
 dbSNP gnomAD v4
16g.89280381G>CCA397151911ANKRD11c.6161C>G (p.Ala2054Gly)
c.*5964C>G (n.*5964C>G)
c.745-5190C>G (n.745-5190C>G)
c.152-5190C>G
c.6059C>G (p.Ala2020Gly)
c.5864C>G (p.Ala1955Gly)
c.6032C>G (p.Ala2011Gly)
 dbSNP
16g.89280381G=CA2241587375ANKRD11c.6161C= (p.Ala2054=)
c.*5964C= (n.*5964C=)
c.745-5190C= (n.745-5190C=)
c.152-5190C=
c.6059C= (p.Ala2020=)
c.5864C= (p.Ala1955=)
c.6032C= (p.Ala2011=)
16g.89280381G>TCA397151909ANKRD11c.6161C>A (p.Ala2054Asp)
c.*5964C>A (n.*5964C>A)
c.745-5190C>A (n.745-5190C>A)
c.152-5190C>A
c.6059C>A (p.Ala2020Asp)
c.5864C>A (p.Ala1955Asp)
c.6032C>A (p.Ala2011Asp)
16g.89280382C>ACA397151915ANKRD11c.6160G>T (p.Ala2054Ser)
c.*5963G>T (n.*5963G>T)
c.745-5191G>T (n.745-5191G>T)
c.152-5191G>T
c.6058G>T (p.Ala2020Ser)
c.5863G>T (p.Ala1955Ser)
c.6031G>T (p.Ala2011Ser)
 gnomAD v4
16g.89280382C>GCA397151917ANKRD11c.6160G>C (p.Ala2054Pro)
c.*5963G>C (n.*5963G>C)
c.745-5191G>C (n.745-5191G>C)
c.152-5191G>C
c.6058G>C (p.Ala2020Pro)
c.5863G>C (p.Ala1955Pro)
c.6031G>C (p.Ala2011Pro)
16g.89280382C>TCA397151919ANKRD11c.6160G>A (p.Ala2054Thr)
c.*5963G>A (n.*5963G>A)
c.745-5191G>A (n.745-5191G>A)
c.152-5191G>A
c.6058G>A (p.Ala2020Thr)
c.5863G>A (p.Ala1955Thr)
c.6031G>A (p.Ala2011Thr)
 gnomAD v4
16g.89280383C>ACA497373274ANKRD11c.6159G>T (p.Ala2053=)
c.*5962G>T (n.*5962G>T)
c.745-5192G>T (n.745-5192G>T)
c.152-5192G>T
c.6057G>T (p.Ala2019=)
c.5862G>T (p.Ala1954=)
c.6030G>T (p.Ala2010=)
16g.89280383C=CA2241587376ANKRD11c.6159G= (p.Ala2053=)
c.*5962G= (n.*5962G=)
c.745-5192G= (n.745-5192G=)
c.152-5192G=
c.6057G= (p.Ala2019=)
c.5862G= (p.Ala1954=)
c.6030G= (p.Ala2010=)
16g.89280383C>GCA497373275ANKRD11c.6159G>C (p.Ala2053=)
c.*5962G>C (n.*5962G>C)
c.745-5192G>C (n.745-5192G>C)
c.152-5192G>C
c.6057G>C (p.Ala2019=)
c.5862G>C (p.Ala1954=)
c.6030G>C (p.Ala2010=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280383C>TCA8241556ANKRD11c.6159G>A (p.Ala2053=)
c.*5962G>A (n.*5962G>A)
c.745-5192G>A (n.745-5192G>A)
c.152-5192G>A
c.6057G>A (p.Ala2019=)
c.5862G>A (p.Ala1954=)
c.6030G>A (p.Ala2010=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280384G>ACA8241557ANKRD11c.6158C>T (p.Ala2053Val)
c.*5961C>T (n.*5961C>T)
c.745-5193C>T (n.745-5193C>T)
c.152-5193C>T
c.6056C>T (p.Ala2019Val)
c.5861C>T (p.Ala1954Val)
c.6029C>T (p.Ala2010Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280384G>CCA397151924ANKRD11c.6158C>G (p.Ala2053Gly)
c.*5961C>G (n.*5961C>G)
c.745-5193C>G (n.745-5193C>G)
c.152-5193C>G
c.6056C>G (p.Ala2019Gly)
c.5861C>G (p.Ala1954Gly)
c.6029C>G (p.Ala2010Gly)
 gnomAD v4
16g.89280384G=CA2241587377ANKRD11c.6158C= (p.Ala2053=)
c.*5961C= (n.*5961C=)
c.745-5193C= (n.745-5193C=)
c.152-5193C=
c.6056C= (p.Ala2019=)
c.5861C= (p.Ala1954=)
c.6029C= (p.Ala2010=)
16g.89280384G>TCA397151926ANKRD11c.6158C>A (p.Ala2053Glu)
c.*5961C>A (n.*5961C>A)
c.745-5193C>A (n.745-5193C>A)
c.152-5193C>A
c.6056C>A (p.Ala2019Glu)
c.5861C>A (p.Ala1954Glu)
c.6029C>A (p.Ala2010Glu)
16g.89280385C>ACA397151927ANKRD11c.6157G>T (p.Ala2053Ser)
c.*5960G>T (n.*5960G>T)
c.745-5194G>T (n.745-5194G>T)
c.152-5194G>T
c.6055G>T (p.Ala2019Ser)
c.5860G>T (p.Ala1954Ser)
c.6028G>T (p.Ala2010Ser)
16g.89280385C=CA2241587378ANKRD11c.6157G= (p.Ala2053=)
c.*5960G= (n.*5960G=)
c.745-5194G= (n.745-5194G=)
c.152-5194G=
c.6055G= (p.Ala2019=)
c.5860G= (p.Ala1954=)
c.6028G= (p.Ala2010=)
16g.89280385C>GCA397151929ANKRD11c.6157G>C (p.Ala2053Pro)
c.*5960G>C (n.*5960G>C)
c.745-5194G>C (n.745-5194G>C)
c.152-5194G>C
c.6055G>C (p.Ala2019Pro)
c.5860G>C (p.Ala1954Pro)
c.6028G>C (p.Ala2010Pro)
16g.89280385C>TCA397151931ANKRD11c.6157G>A (p.Ala2053Thr)
c.*5960G>A (n.*5960G>A)
c.745-5194G>A (n.745-5194G>A)
c.152-5194G>A
c.6055G>A (p.Ala2019Thr)
c.5860G>A (p.Ala1954Thr)
c.6028G>A (p.Ala2010Thr)
 ClinVar dbSNP
16g.89280386C>ACA397151933ANKRD11c.6156G>T (p.Glu2052Asp)
c.*5959G>T (n.*5959G>T)
c.745-5195G>T (n.745-5195G>T)
c.152-5195G>T
c.6054G>T (p.Glu2018Asp)
c.5859G>T (p.Glu1953Asp)
c.6027G>T (p.Glu2009Asp)
16g.89280386C=CA2241587379ANKRD11c.6156G= (p.Glu2052=)
c.*5959G= (n.*5959G=)
c.745-5195G= (n.745-5195G=)
c.152-5195G=
c.6054G= (p.Glu2018=)
c.5859G= (p.Glu1953=)
c.6027G= (p.Glu2009=)
16g.89280386C>GCA397151934ANKRD11c.6156G>C (p.Glu2052Asp)
c.*5959G>C (n.*5959G>C)
c.745-5195G>C (n.745-5195G>C)
c.152-5195G>C
c.6054G>C (p.Glu2018Asp)
c.5859G>C (p.Glu1953Asp)
c.6027G>C (p.Glu2009Asp)
16g.89280386C>TCA497373276ANKRD11c.6156G>A (p.Glu2052=)
c.*5959G>A (n.*5959G>A)
c.745-5195G>A (n.745-5195G>A)
c.152-5195G>A
c.6054G>A (p.Glu2018=)
c.5859G>A (p.Glu1953=)
c.6027G>A (p.Glu2009=)
 dbSNP gnomAD v4
16g.89280387T>ACA397151937ANKRD11c.6155A>T (p.Glu2052Val)
c.*5958A>T (n.*5958A>T)
c.745-5196A>T (n.745-5196A>T)
c.152-5196A>T
c.6053A>T (p.Glu2018Val)
c.5858A>T (p.Glu1953Val)
c.6026A>T (p.Glu2009Val)
 gnomAD v4
16g.89280387T>CCA397151938ANKRD11c.6155A>G (p.Glu2052Gly)
c.*5958A>G (n.*5958A>G)
c.745-5196A>G (n.745-5196A>G)
c.152-5196A>G
c.6053A>G (p.Glu2018Gly)
c.5858A>G (p.Glu1953Gly)
c.6026A>G (p.Glu2009Gly)
 ClinVar gnomAD v4
16g.89280387T>GCA397151935ANKRD11c.6155A>C (p.Glu2052Ala)
c.*5958A>C (n.*5958A>C)
c.745-5196A>C (n.745-5196A>C)
c.152-5196A>C
c.6053A>C (p.Glu2018Ala)
c.5858A>C (p.Glu1953Ala)
c.6026A>C (p.Glu2009Ala)
16g.89280388C>ACA397151940ANKRD11c.6154G>T (p.Glu2052Ter)
c.*5957G>T (n.*5957G>T)
c.745-5197G>T (n.745-5197G>T)
c.152-5197G>T
c.6052G>T (p.Glu2018Ter)
c.5857G>T (p.Glu1953Ter)
c.6025G>T (p.Glu2009Ter)
16g.89280388C>GCA397151941ANKRD11c.6154G>C (p.Glu2052Gln)
c.*5957G>C (n.*5957G>C)
c.745-5197G>C (n.745-5197G>C)
c.152-5197G>C
c.6052G>C (p.Glu2018Gln)
c.5857G>C (p.Glu1953Gln)
c.6025G>C (p.Glu2009Gln)
16g.89280388C>TCA397151942ANKRD11c.6154G>A (p.Glu2052Lys)
c.*5957G>A (n.*5957G>A)
c.745-5197G>A (n.745-5197G>A)
c.152-5197G>A
c.6052G>A (p.Glu2018Lys)
c.5857G>A (p.Glu1953Lys)
c.6025G>A (p.Glu2009Lys)
16g.89280389T>ACA497373277ANKRD11c.6153A>T (p.Ser2051=)
c.*5956A>T (n.*5956A>T)
c.745-5198A>T (n.745-5198A>T)
c.152-5198A>T
c.6051A>T (p.Ser2017=)
c.5856A>T (p.Ser1952=)
c.6024A>T (p.Ser2008=)
16g.89280389T>CCA286510666ANKRD11c.6153A>G (p.Ser2051=)
c.*5956A>G (n.*5956A>G)
c.745-5198A>G (n.745-5198A>G)
c.152-5198A>G
c.6051A>G (p.Ser2017=)
c.5856A>G (p.Ser1952=)
c.6024A>G (p.Ser2008=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280389T>GCA8241558ANKRD11c.6153A>C (p.Ser2051=)
c.*5956A>C (n.*5956A>C)
c.745-5198A>C (n.745-5198A>C)
c.152-5198A>C
c.6051A>C (p.Ser2017=)
c.5856A>C (p.Ser1952=)
c.6024A>C (p.Ser2008=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280389T=CA2241587380ANKRD11c.6153A= (p.Ser2051=)
c.*5956A= (n.*5956A=)
c.745-5198A= (n.745-5198A=)
c.152-5198A=
c.6051A= (p.Ser2017=)
c.5856A= (p.Ser1952=)
c.6024A= (p.Ser2008=)
16g.89280390G>ACA8241559ANKRD11c.6152C>T (p.Ser2051Leu)
c.*5955C>T (n.*5955C>T)
c.745-5199C>T (n.745-5199C>T)
c.152-5199C>T
c.6050C>T (p.Ser2017Leu)
c.5855C>T (p.Ser1952Leu)
c.6023C>T (p.Ser2008Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280390G>CCA397151946ANKRD11c.6152C>G (p.Ser2051Ter)
c.*5955C>G (n.*5955C>G)
c.745-5199C>G (n.745-5199C>G)
c.152-5199C>G
c.6050C>G (p.Ser2017Ter)
c.5855C>G (p.Ser1952Ter)
c.6023C>G (p.Ser2008Ter)
16g.89280390G=CA2241587381ANKRD11c.6152C= (p.Ser2051=)
c.*5955C= (n.*5955C=)
c.745-5199C= (n.745-5199C=)
c.152-5199C=
c.6050C= (p.Ser2017=)
c.5855C= (p.Ser1952=)
c.6023C= (p.Ser2008=)
16g.89280390G>TCA397151947ANKRD11c.6152C>A (p.Ser2051Ter)
c.*5955C>A (n.*5955C>A)
c.745-5199C>A (n.745-5199C>A)
c.152-5199C>A
c.6050C>A (p.Ser2017Ter)
c.5855C>A (p.Ser1952Ter)
c.6023C>A (p.Ser2008Ter)
 gnomAD v4
16g.89280390dupCA1139664907ANKRD11c.6152dup (p.Glu2052ArgfsTer?)
c.*5955dup (n.*5955dup)
c.745-5199dup (n.745-5199dup)
c.152-5199dup
c.6050dup (p.Glu2018ArgfsTer?)
c.5855dup (p.Glu1953ArgfsTer?)
c.6023dup (p.Glu2009ArgfsTer?)
 ClinVar
16g.89280391A>CCA397151949ANKRD11c.6151T>G (p.Ser2051Ala)
c.*5954T>G (n.*5954T>G)
c.745-5200T>G (n.745-5200T>G)
c.152-5200T>G
c.6049T>G (p.Ser2017Ala)
c.5854T>G (p.Ser1952Ala)
c.6022T>G (p.Ser2008Ala)
16g.89280391A>GCA397151950ANKRD11c.6151T>C (p.Ser2051Pro)
c.*5954T>C (n.*5954T>C)
c.745-5200T>C (n.745-5200T>C)
c.152-5200T>C
c.6049T>C (p.Ser2017Pro)
c.5854T>C (p.Ser1952Pro)
c.6022T>C (p.Ser2008Pro)
 gnomAD v4
16g.89280391A>TCA397151952ANKRD11c.6151T>A (p.Ser2051Thr)
c.*5954T>A (n.*5954T>A)
c.745-5200T>A (n.745-5200T>A)
c.152-5200T>A
c.6049T>A (p.Ser2017Thr)
c.5854T>A (p.Ser1952Thr)
c.6022T>A (p.Ser2008Thr)
 gnomAD v4
16g.89280392G>ACA8241560ANKRD11c.6150C>T (p.Thr2050=)
c.*5953C>T (n.*5953C>T)
c.745-5201C>T (n.745-5201C>T)
c.152-5201C>T
c.6048C>T (p.Thr2016=)
c.5853C>T (p.Thr1951=)
c.6021C>T (p.Thr2007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280392G>CCA497373279ANKRD11c.6150C>G (p.Thr2050=)
c.*5953C>G (n.*5953C>G)
c.745-5201C>G (n.745-5201C>G)
c.152-5201C>G
c.6048C>G (p.Thr2016=)
c.5853C>G (p.Thr1951=)
c.6021C>G (p.Thr2007=)
16g.89280392G=CA2241587382ANKRD11c.6150C= (p.Thr2050=)
c.*5953C= (n.*5953C=)
c.745-5201C= (n.745-5201C=)
c.152-5201C=
c.6048C= (p.Thr2016=)
c.5853C= (p.Thr1951=)
c.6021C= (p.Thr2007=)
16g.89280392G>TCA497373278ANKRD11c.6150C>A (p.Thr2050=)
c.*5953C>A (n.*5953C>A)
c.745-5201C>A (n.745-5201C>A)
c.152-5201C>A
c.6048C>A (p.Thr2016=)
c.5853C>A (p.Thr1951=)
c.6021C>A (p.Thr2007=)
16g.89280393G>ACA397151956ANKRD11c.6149C>T (p.Thr2050Ile)
c.*5952C>T (n.*5952C>T)
c.745-5202C>T (n.745-5202C>T)
c.152-5202C>T
c.6047C>T (p.Thr2016Ile)
c.5852C>T (p.Thr1951Ile)
c.6020C>T (p.Thr2007Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.89280393G>CCA397151958ANKRD11c.6149C>G (p.Thr2050Ser)
c.*5952C>G (n.*5952C>G)
c.745-5202C>G (n.745-5202C>G)
c.152-5202C>G
c.6047C>G (p.Thr2016Ser)
c.5852C>G (p.Thr1951Ser)
c.6020C>G (p.Thr2007Ser)
16g.89280393G=CA2241587383ANKRD11c.6149C= (p.Thr2050=)
c.*5952C= (n.*5952C=)
c.745-5202C= (n.745-5202C=)
c.152-5202C=
c.6047C= (p.Thr2016=)
c.5852C= (p.Thr1951=)
c.6020C= (p.Thr2007=)
16g.89280393G>TCA397151955ANKRD11c.6149C>A (p.Thr2050Asn)
c.*5952C>A (n.*5952C>A)
c.745-5202C>A (n.745-5202C>A)
c.152-5202C>A
c.6047C>A (p.Thr2016Asn)
c.5852C>A (p.Thr1951Asn)
c.6020C>A (p.Thr2007Asn)
 ClinVar dbSNP gnomAD v4
16g.89280394T>ACA397151960ANKRD11c.6148A>T (p.Thr2050Ser)
c.*5951A>T (n.*5951A>T)
c.745-5203A>T (n.745-5203A>T)
c.152-5203A>T
c.6046A>T (p.Thr2016Ser)
c.5851A>T (p.Thr1951Ser)
c.6019A>T (p.Thr2007Ser)
16g.89280394T>CCA397151963ANKRD11c.6148A>G (p.Thr2050Ala)
c.*5951A>G (n.*5951A>G)
c.745-5203A>G (n.745-5203A>G)
c.152-5203A>G
c.6046A>G (p.Thr2016Ala)
c.5851A>G (p.Thr1951Ala)
c.6019A>G (p.Thr2007Ala)
 gnomAD v4
16g.89280394T>GCA397151965ANKRD11c.6148A>C (p.Thr2050Pro)
c.*5951A>C (n.*5951A>C)
c.745-5203A>C (n.745-5203A>C)
c.152-5203A>C
c.6046A>C (p.Thr2016Pro)
c.5851A>C (p.Thr1951Pro)
c.6019A>C (p.Thr2007Pro)
16g.89280394T=CA2241587384ANKRD11c.6148A= (p.Thr2050=)
c.*5951A= (n.*5951A=)
c.745-5203A= (n.745-5203A=)
c.152-5203A=
c.6046A= (p.Thr2016=)
c.5851A= (p.Thr1951=)
c.6019A= (p.Thr2007=)
16g.89280395G>ACA497373280ANKRD11c.6147C>T (p.Ser2049=)
c.*5950C>T (n.*5950C>T)
c.745-5204C>T (n.745-5204C>T)
c.152-5204C>T
c.6045C>T (p.Ser2015=)
c.5850C>T (p.Ser1950=)
c.6018C>T (p.Ser2006=)
16g.89280395G>CCA497373281ANKRD11c.6147C>G (p.Ser2049=)
c.*5950C>G (n.*5950C>G)
c.745-5204C>G (n.745-5204C>G)
c.152-5204C>G
c.6045C>G (p.Ser2015=)
c.5850C>G (p.Ser1950=)
c.6018C>G (p.Ser2006=)
16g.89280395G>TCA497373282ANKRD11c.6147C>A (p.Ser2049=)
c.*5950C>A (n.*5950C>A)
c.745-5204C>A (n.745-5204C>A)
c.152-5204C>A
c.6045C>A (p.Ser2015=)
c.5850C>A (p.Ser1950=)
c.6018C>A (p.Ser2006=)
16g.89280397_89280408dupCA624452394ANKRD11c.6136_6147dup (p.Ser2049_Thr2050insAlaAlaIleSer)
c.*5939_*5950dup (n.*5939_*5950dup)
c.745-5215_745-5204dup (n.745-5215_745-5204dup)
c.152-5215_152-5204dup
c.6034_6045dup (p.Ser2015_Thr2016insAlaAlaIleSer)
c.5839_5850dup (p.Ser1950_Thr1951insAlaAlaIleSer)
c.6007_6018dup (p.Ser2006_Thr2007insAlaAlaIleSer)
 dbSNP gnomAD v2 gnomAD v4
16g.89280396G>ACA8241561ANKRD11c.6146C>T (p.Ser2049Phe)
c.*5949C>T (n.*5949C>T)
c.745-5205C>T (n.745-5205C>T)
c.152-5205C>T
c.6044C>T (p.Ser2015Phe)
c.5849C>T (p.Ser1950Phe)
c.6017C>T (p.Ser2006Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280396G>CCA397151967ANKRD11c.6146C>G (p.Ser2049Cys)
c.*5949C>G (n.*5949C>G)
c.745-5205C>G (n.745-5205C>G)
c.152-5205C>G
c.6044C>G (p.Ser2015Cys)
c.5849C>G (p.Ser1950Cys)
c.6017C>G (p.Ser2006Cys)
16g.89280396G=CA2241587385ANKRD11c.6146C= (p.Ser2049=)
c.*5949C= (n.*5949C=)
c.745-5205C= (n.745-5205C=)
c.152-5205C=
c.6044C= (p.Ser2015=)
c.5849C= (p.Ser1950=)
c.6017C= (p.Ser2006=)
16g.89280396G>TCA397151969ANKRD11c.6146C>A (p.Ser2049Tyr)
c.*5949C>A (n.*5949C>A)
c.745-5205C>A (n.745-5205C>A)
c.152-5205C>A
c.6044C>A (p.Ser2015Tyr)
c.5849C>A (p.Ser1950Tyr)
c.6017C>A (p.Ser2006Tyr)
16g.89280397A=CA2241587386ANKRD11c.6145T= (p.Ser2049=)
c.*5948T= (n.*5948T=)
c.745-5206T= (n.745-5206T=)
c.152-5206T=
c.6043T= (p.Ser2015=)
c.5848T= (p.Ser1950=)
c.6016T= (p.Ser2006=)
16g.89280397A>CCA397151972ANKRD11c.6145T>G (p.Ser2049Ala)
c.*5948T>G (n.*5948T>G)
c.745-5206T>G (n.745-5206T>G)
c.152-5206T>G
c.6043T>G (p.Ser2015Ala)
c.5848T>G (p.Ser1950Ala)
c.6016T>G (p.Ser2006Ala)
16g.89280397A>GCA397151975ANKRD11c.6145T>C (p.Ser2049Pro)
c.*5948T>C (n.*5948T>C)
c.745-5206T>C (n.745-5206T>C)
c.152-5206T>C
c.6043T>C (p.Ser2015Pro)
c.5848T>C (p.Ser1950Pro)
c.6016T>C (p.Ser2006Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280397A>TCA397151974ANKRD11c.6145T>A (p.Ser2049Thr)
c.*5948T>A (n.*5948T>A)
c.745-5206T>A (n.745-5206T>A)
c.152-5206T>A
c.6043T>A (p.Ser2015Thr)
c.5848T>A (p.Ser1950Thr)
c.6016T>A (p.Ser2006Thr)
16g.89280398G>ACA497373283ANKRD11c.6144C>T (p.Ile2048=)
c.*5947C>T (n.*5947C>T)
c.745-5207C>T (n.745-5207C>T)
c.152-5207C>T
c.6042C>T (p.Ile2014=)
c.5847C>T (p.Ile1949=)
c.6015C>T (p.Ile2005=)
 gnomAD v4
16g.89280398G>CCA397151977ANKRD11c.6144C>G (p.Ile2048Met)
c.*5947C>G (n.*5947C>G)
c.745-5207C>G (n.745-5207C>G)
c.152-5207C>G
c.6042C>G (p.Ile2014Met)
c.5847C>G (p.Ile1949Met)
c.6015C>G (p.Ile2005Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280398G=CA2241587387ANKRD11c.6144C= (p.Ile2048=)
c.*5947C= (n.*5947C=)
c.745-5207C= (n.745-5207C=)
c.152-5207C=
c.6042C= (p.Ile2014=)
c.5847C= (p.Ile1949=)
c.6015C= (p.Ile2005=)
16g.89280398G>TCA497373284ANKRD11c.6144C>A (p.Ile2048=)
c.*5947C>A (n.*5947C>A)
c.745-5207C>A (n.745-5207C>A)
c.152-5207C>A
c.6042C>A (p.Ile2014=)
c.5847C>A (p.Ile1949=)
c.6015C>A (p.Ile2005=)
16g.89280399A>CCA397151980ANKRD11c.6143T>G (p.Ile2048Ser)
c.*5946T>G (n.*5946T>G)
c.745-5208T>G (n.745-5208T>G)
c.152-5208T>G
c.6041T>G (p.Ile2014Ser)
c.5846T>G (p.Ile1949Ser)
c.6014T>G (p.Ile2005Ser)
16g.89280399A>GCA397151981ANKRD11c.6143T>C (p.Ile2048Thr)
c.*5946T>C (n.*5946T>C)
c.745-5208T>C (n.745-5208T>C)
c.152-5208T>C
c.6041T>C (p.Ile2014Thr)
c.5846T>C (p.Ile1949Thr)
c.6014T>C (p.Ile2005Thr)
16g.89280399A>TCA397151982ANKRD11c.6143T>A (p.Ile2048Asn)
c.*5946T>A (n.*5946T>A)
c.745-5208T>A (n.745-5208T>A)
c.152-5208T>A
c.6041T>A (p.Ile2014Asn)
c.5846T>A (p.Ile1949Asn)
c.6014T>A (p.Ile2005Asn)
16g.89280400T>ACA397151988ANKRD11c.6142A>T (p.Ile2048Phe)
c.*5945A>T (n.*5945A>T)
c.745-5209A>T (n.745-5209A>T)
c.152-5209A>T
c.6040A>T (p.Ile2014Phe)
c.5845A>T (p.Ile1949Phe)
c.6013A>T (p.Ile2005Phe)
16g.89280400T>CCA397151987ANKRD11c.6142A>G (p.Ile2048Val)
c.*5945A>G (n.*5945A>G)
c.745-5209A>G (n.745-5209A>G)
c.152-5209A>G
c.6040A>G (p.Ile2014Val)
c.5845A>G (p.Ile1949Val)
c.6013A>G (p.Ile2005Val)
16g.89280400T>GCA397151984ANKRD11c.6142A>C (p.Ile2048Leu)
c.*5945A>C (n.*5945A>C)
c.745-5209A>C (n.745-5209A>C)
c.152-5209A>C
c.6040A>C (p.Ile2014Leu)
c.5845A>C (p.Ile1949Leu)
c.6013A>C (p.Ile2005Leu)
 gnomAD v4
16g.89280401G>ACA497373285ANKRD11c.6141C>T (p.Ala2047=)
c.*5944C>T (n.*5944C>T)
c.745-5210C>T (n.745-5210C>T)
c.152-5210C>T
c.6039C>T (p.Ala2013=)
c.5844C>T (p.Ala1948=)
c.6012C>T (p.Ala2004=)
16g.89280401G>CCA497373286ANKRD11c.6141C>G (p.Ala2047=)
c.*5944C>G (n.*5944C>G)
c.745-5210C>G (n.745-5210C>G)
c.152-5210C>G
c.6039C>G (p.Ala2013=)
c.5844C>G (p.Ala1948=)
c.6012C>G (p.Ala2004=)
16g.89280401G>TCA497373287ANKRD11c.6141C>A (p.Ala2047=)
c.*5944C>A (n.*5944C>A)
c.745-5210C>A (n.745-5210C>A)
c.152-5210C>A
c.6039C>A (p.Ala2013=)
c.5844C>A (p.Ala1948=)
c.6012C>A (p.Ala2004=)
 gnomAD v4
16g.89280406_89280408delCA2634942568ANKRD11c.6139_6141del (p.Ala2047del)
c.*5942_*5944del (n.*5942_*5944del)
c.745-5212_745-5210del (n.745-5212_745-5210del)
c.152-5212_152-5210del
c.6037_6039del (p.Ala2013del)
c.5842_5844del (p.Ala1948del)
c.6010_6012del (p.Ala2004del)
 gnomAD v4
16g.89280402G>ACA397151990ANKRD11c.6140C>T (p.Ala2047Val)
c.*5943C>T (n.*5943C>T)
c.745-5211C>T (n.745-5211C>T)
c.152-5211C>T
c.6038C>T (p.Ala2013Val)
c.5843C>T (p.Ala1948Val)
c.6011C>T (p.Ala2004Val)
 dbSNP gnomAD v4
16g.89280402G>CCA8241562ANKRD11c.6140C>G (p.Ala2047Gly)
c.*5943C>G (n.*5943C>G)
c.745-5211C>G (n.745-5211C>G)
c.152-5211C>G
c.6038C>G (p.Ala2013Gly)
c.5843C>G (p.Ala1948Gly)
c.6011C>G (p.Ala2004Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280402G=CA2241587388ANKRD11c.6140C= (p.Ala2047=)
c.*5943C= (n.*5943C=)
c.745-5211C= (n.745-5211C=)
c.152-5211C=
c.6038C= (p.Ala2013=)
c.5843C= (p.Ala1948=)
c.6011C= (p.Ala2004=)
16g.89280402G>TCA8241563ANKRD11c.6140C>A (p.Ala2047Asp)
c.*5943C>A (n.*5943C>A)
c.745-5211C>A (n.745-5211C>A)
c.152-5211C>A
c.6038C>A (p.Ala2013Asp)
c.5843C>A (p.Ala1948Asp)
c.6011C>A (p.Ala2004Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280403C>ACA286510678ANKRD11c.6139G>T (p.Ala2047Ser)
c.*5942G>T (n.*5942G>T)
c.745-5212G>T (n.745-5212G>T)
c.152-5212G>T
c.6037G>T (p.Ala2013Ser)
c.5842G>T (p.Ala1948Ser)
c.6010G>T (p.Ala2004Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280403C=CA2241587390ANKRD11c.6139G= (p.Ala2047=)
c.*5942G= (n.*5942G=)
c.745-5212G= (n.745-5212G=)
c.152-5212G=
c.6037G= (p.Ala2013=)
c.5842G= (p.Ala1948=)
c.6010G= (p.Ala2004=)
16g.89280403C>GCA397151997ANKRD11c.6139G>C (p.Ala2047Pro)
c.*5942G>C (n.*5942G>C)
c.745-5212G>C (n.745-5212G>C)
c.152-5212G>C
c.6037G>C (p.Ala2013Pro)
c.5842G>C (p.Ala1948Pro)
c.6010G>C (p.Ala2004Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280403C>TCA8241564ANKRD11c.6139G>A (p.Ala2047Thr)
c.*5942G>A (n.*5942G>A)
c.745-5212G>A (n.745-5212G>A)
c.152-5212G>A
c.6037G>A (p.Ala2013Thr)
c.5842G>A (p.Ala1948Thr)
c.6010G>A (p.Ala2004Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280403_89280404delinsCGCA2241587389ANKRD11c.6138_6139delinsCG (p.Ala2046=)
c.*5941_*5942delinsCG (n.*5941_*5942delinsCG)
c.745-5213_745-5212delinsCG (n.745-5213_745-5212delinsCG)
c.152-5213_152-5212delinsCG
c.6036_6037delinsCG (p.Ala2012=)
c.5841_5842delinsCG (p.Ala1947=)
c.6009_6010delinsCG (p.Ala2003=)
16g.89280404G>ACA8241565ANKRD11c.6138C>T (p.Ala2046=)
c.*5941C>T (n.*5941C>T)
c.745-5213C>T (n.745-5213C>T)
c.152-5213C>T
c.6036C>T (p.Ala2012=)
c.5841C>T (p.Ala1947=)
c.6009C>T (p.Ala2003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280404G>CCA286510681ANKRD11c.6138C>G (p.Ala2046=)
c.*5941C>G (n.*5941C>G)
c.745-5213C>G (n.745-5213C>G)
c.152-5213C>G
c.6036C>G (p.Ala2012=)
c.5841C>G (p.Ala1947=)
c.6009C>G (p.Ala2003=)
 dbSNP
16g.89280404G=CA2241587391ANKRD11c.6138C= (p.Ala2046=)
c.*5941C= (n.*5941C=)
c.745-5213C= (n.745-5213C=)
c.152-5213C=
c.6036C= (p.Ala2012=)
c.5841C= (p.Ala1947=)
c.6009C= (p.Ala2003=)
16g.89280404G>TCA497373292ANKRD11c.6138C>A (p.Ala2046=)
c.*5941C>A (n.*5941C>A)
c.745-5213C>A (n.745-5213C>A)
c.152-5213C>A
c.6036C>A (p.Ala2012=)
c.5841C>A (p.Ala1947=)
c.6009C>A (p.Ala2003=)
 gnomAD v4
16g.89280405delCA658658518ANKRD11c.6138del (p.Ala2047ProfsTer?)
c.*5941del (n.*5941del)
c.745-5213del (n.745-5213del)
c.152-5213del
c.6036del (p.Ala2013ProfsTer?)
c.5841del (p.Ala1948ProfsTer?)
c.6009del (p.Ala2004ProfsTer?)
 ClinVar dbSNP
16g.89280405G>ACA8241566ANKRD11c.6137C>T (p.Ala2046Val)
c.*5940C>T (n.*5940C>T)
c.745-5214C>T (n.745-5214C>T)
c.152-5214C>T
c.6035C>T (p.Ala2012Val)
c.5840C>T (p.Ala1947Val)
c.6008C>T (p.Ala2003Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280405G>CCA397152000ANKRD11c.6137C>G (p.Ala2046Gly)
c.*5940C>G (n.*5940C>G)
c.745-5214C>G (n.745-5214C>G)
c.152-5214C>G
c.6035C>G (p.Ala2012Gly)
c.5840C>G (p.Ala1947Gly)
c.6008C>G (p.Ala2003Gly)
16g.89280405G=CA2241587392ANKRD11c.6137C= (p.Ala2046=)
c.*5940C= (n.*5940C=)
c.745-5214C= (n.745-5214C=)
c.152-5214C=
c.6035C= (p.Ala2012=)
c.5840C= (p.Ala1947=)
c.6008C= (p.Ala2003=)
16g.89280405G>TCA397152003ANKRD11c.6137C>A (p.Ala2046Asp)
c.*5940C>A (n.*5940C>A)
c.745-5214C>A (n.745-5214C>A)
c.152-5214C>A
c.6035C>A (p.Ala2012Asp)
c.5840C>A (p.Ala1947Asp)
c.6008C>A (p.Ala2003Asp)
16g.89280406C>ACA397152005ANKRD11c.6136G>T (p.Ala2046Ser)
c.*5939G>T (n.*5939G>T)
c.745-5215G>T (n.745-5215G>T)
c.152-5215G>T
c.6034G>T (p.Ala2012Ser)
c.5839G>T (p.Ala1947Ser)
c.6007G>T (p.Ala2003Ser)
 gnomAD v4
16g.89280406C=CA2241587393ANKRD11c.6136G= (p.Ala2046=)
c.*5939G= (n.*5939G=)
c.745-5215G= (n.745-5215G=)
c.152-5215G=
c.6034G= (p.Ala2012=)
c.5839G= (p.Ala1947=)
c.6007G= (p.Ala2003=)
16g.89280406C>GCA286510685ANKRD11c.6136G>C (p.Ala2046Pro)
c.*5939G>C (n.*5939G>C)
c.745-5215G>C (n.745-5215G>C)
c.152-5215G>C
c.6034G>C (p.Ala2012Pro)
c.5839G>C (p.Ala1947Pro)
c.6007G>C (p.Ala2003Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280406C>TCA8241567ANKRD11c.6136G>A (p.Ala2046Thr)
c.*5939G>A (n.*5939G>A)
c.745-5215G>A (n.745-5215G>A)
c.152-5215G>A
c.6034G>A (p.Ala2012Thr)
c.5839G>A (p.Ala1947Thr)
c.6007G>A (p.Ala2003Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280407G>ACA286510688ANKRD11c.6135C>T (p.Pro2045=)
c.*5938C>T (n.*5938C>T)
c.745-5216C>T (n.745-5216C>T)
c.152-5216C>T
c.6033C>T (p.Pro2011=)
c.5838C>T (p.Pro1946=)
c.6006C>T (p.Pro2002=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280407G>CCA8241569ANKRD11c.6135C>G (p.Pro2045=)
c.*5938C>G (n.*5938C>G)
c.745-5216C>G (n.745-5216C>G)
c.152-5216C>G
c.6033C>G (p.Pro2011=)
c.5838C>G (p.Pro1946=)
c.6006C>G (p.Pro2002=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280407G=CA2241587394ANKRD11c.6135C= (p.Pro2045=)
c.*5938C= (n.*5938C=)
c.745-5216C= (n.745-5216C=)
c.152-5216C=
c.6033C= (p.Pro2011=)
c.5838C= (p.Pro1946=)
c.6006C= (p.Pro2002=)
16g.89280407G>TCA8241568ANKRD11c.6135C>A (p.Pro2045=)
c.*5938C>A (n.*5938C>A)
c.745-5216C>A (n.745-5216C>A)
c.152-5216C>A
c.6033C>A (p.Pro2011=)
c.5838C>A (p.Pro1946=)
c.6006C>A (p.Pro2002=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280410delCA2634942578ANKRD11c.6135del (p.Ala2046ProfsTer?)
c.*5938del (n.*5938del)
c.745-5216del (n.745-5216del)
c.152-5216del
c.6033del (p.Ala2012ProfsTer?)
c.5838del (p.Ala1947ProfsTer?)
c.6006del (p.Ala2003ProfsTer?)
 gnomAD v4
16g.89280408G>ACA8241570ANKRD11c.6134C>T (p.Pro2045Leu)
c.*5937C>T (n.*5937C>T)
c.745-5217C>T (n.745-5217C>T)
c.152-5217C>T
c.6032C>T (p.Pro2011Leu)
c.5837C>T (p.Pro1946Leu)
c.6005C>T (p.Pro2002Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280408G>CCA397152012ANKRD11c.6134C>G (p.Pro2045Arg)
c.*5937C>G (n.*5937C>G)
c.745-5217C>G (n.745-5217C>G)
c.152-5217C>G
c.6032C>G (p.Pro2011Arg)
c.5837C>G (p.Pro1946Arg)
c.6005C>G (p.Pro2002Arg)
16g.89280408G=CA2241587395ANKRD11c.6134C= (p.Pro2045=)
c.*5937C= (n.*5937C=)
c.745-5217C= (n.745-5217C=)
c.152-5217C=
c.6032C= (p.Pro2011=)
c.5837C= (p.Pro1946=)
c.6005C= (p.Pro2002=)
16g.89280408G>TCA397152013ANKRD11c.6134C>A (p.Pro2045His)
c.*5937C>A (n.*5937C>A)
c.745-5217C>A (n.745-5217C>A)
c.152-5217C>A
c.6032C>A (p.Pro2011His)
c.5837C>A (p.Pro1946His)
c.6005C>A (p.Pro2002His)
 gnomAD v4
16g.89280409G>ACA8241571ANKRD11c.6133C>T (p.Pro2045Ser)
c.*5936C>T (n.*5936C>T)
c.745-5218C>T (n.745-5218C>T)
c.152-5218C>T
c.6031C>T (p.Pro2011Ser)
c.5836C>T (p.Pro1946Ser)
c.6004C>T (p.Pro2002Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280409G>CCA397152016ANKRD11c.6133C>G (p.Pro2045Ala)
c.*5936C>G (n.*5936C>G)
c.745-5218C>G (n.745-5218C>G)
c.152-5218C>G
c.6031C>G (p.Pro2011Ala)
c.5836C>G (p.Pro1946Ala)
c.6004C>G (p.Pro2002Ala)
 gnomAD v4
16g.89280409G=CA2241587397ANKRD11c.6133C= (p.Pro2045=)
c.*5936C= (n.*5936C=)
c.745-5218C= (n.745-5218C=)
c.152-5218C=
c.6031C= (p.Pro2011=)
c.5836C= (p.Pro1946=)
c.6004C= (p.Pro2002=)
16g.89280409G>TCA397152018ANKRD11c.6133C>A (p.Pro2045Thr)
c.*5936C>A (n.*5936C>A)
c.745-5218C>A (n.745-5218C>A)
c.152-5218C>A
c.6031C>A (p.Pro2011Thr)
c.5836C>A (p.Pro1946Thr)
c.6004C>A (p.Pro2002Thr)
 gnomAD v4
16g.89280409_89280430delinsGGACGGCGTCCACTCCGTCCTTCA2241587396ANKRD11c.6112_6133delinsAAGGACGGAGTGGACGCCGTCC (p.Lys2038=)
c.*5915_*5936delinsAAGGACGGAGTGGACGCCGTCC (n.*5915_*5936delinsAAGGACGGAGTGGACGCCGTCC)
c.745-5239_745-5218delinsAAGGACGGAGTGGACGCCGTCC (n.745-5239_745-5218delinsAAGGACGGAGTGGACGCCGTCC)
c.152-5239_152-5218delinsAAGGACGGAGTGGACGCCGTCC
c.6010_6031delinsAAGGACGGAGTGGACGCCGTCC (p.Lys2004=)
c.5815_5836delinsAAGGACGGAGTGGACGCCGTCC (p.Lys1939=)
c.5983_6004delinsAAGGACGGAGTGGACGCCGTCC (p.Lys1995=)
16g.89280410G>ACA497373301ANKRD11c.6132C>T (p.Val2044=)
c.*5935C>T (n.*5935C>T)
c.745-5219C>T (n.745-5219C>T)
c.152-5219C>T
c.6030C>T (p.Val2010=)
c.5835C>T (p.Val1945=)
c.6003C>T (p.Val2001=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280410G>CCA497373302ANKRD11c.6132C>G (p.Val2044=)
c.*5935C>G (n.*5935C>G)
c.745-5219C>G (n.745-5219C>G)
c.152-5219C>G
c.6030C>G (p.Val2010=)
c.5835C>G (p.Val1945=)
c.6003C>G (p.Val2001=)
16g.89280410G=CA2241587398ANKRD11c.6132C= (p.Val2044=)
c.*5935C= (n.*5935C=)
c.745-5219C= (n.745-5219C=)
c.152-5219C=
c.6030C= (p.Val2010=)
c.5835C= (p.Val1945=)
c.6003C= (p.Val2001=)
16g.89280410G>TCA497373304ANKRD11c.6132C>A (p.Val2044=)
c.*5935C>A (n.*5935C>A)
c.745-5219C>A (n.745-5219C>A)
c.152-5219C>A
c.6030C>A (p.Val2010=)
c.5835C>A (p.Val1945=)
c.6003C>A (p.Val2001=)
 gnomAD v4
16g.89280414_89280434delCA8241572ANKRD11c.6112_6132del (p.Lys2038_Val2044del)
c.*5915_*5935del (n.*5915_*5935del)
c.745-5239_745-5219del (n.745-5239_745-5219del)
c.152-5239_152-5219del
c.6010_6030del (p.Lys2004_Val2010del)
c.5815_5835del (p.Lys1939_Val1945del)
c.5983_6003del (p.Lys1995_Val2001del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280411A=CA2241587399ANKRD11c.6131T= (p.Val2044=)
c.*5934T= (n.*5934T=)
c.745-5220T= (n.745-5220T=)
c.152-5220T=
c.6029T= (p.Val2010=)
c.5834T= (p.Val1945=)
c.6002T= (p.Val2001=)
16g.89280411A>CCA397152020ANKRD11c.6131T>G (p.Val2044Gly)
c.*5934T>G (n.*5934T>G)
c.745-5220T>G (n.745-5220T>G)
c.152-5220T>G
c.6029T>G (p.Val2010Gly)
c.5834T>G (p.Val1945Gly)
c.6002T>G (p.Val2001Gly)
16g.89280411A>GCA8241573ANKRD11c.6131T>C (p.Val2044Ala)
c.*5934T>C (n.*5934T>C)
c.745-5220T>C (n.745-5220T>C)
c.152-5220T>C
c.6029T>C (p.Val2010Ala)
c.5834T>C (p.Val1945Ala)
c.6002T>C (p.Val2001Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280411A>TCA397152019ANKRD11c.6131T>A (p.Val2044Asp)
c.*5934T>A (n.*5934T>A)
c.745-5220T>A (n.745-5220T>A)
c.152-5220T>A
c.6029T>A (p.Val2010Asp)
c.5834T>A (p.Val1945Asp)
c.6002T>A (p.Val2001Asp)
16g.89280412C>ACA397152021ANKRD11c.6130G>T (p.Val2044Phe)
c.*5933G>T (n.*5933G>T)
c.745-5221G>T (n.745-5221G>T)
c.152-5221G>T
c.6028G>T (p.Val2010Phe)
c.5833G>T (p.Val1945Phe)
c.6001G>T (p.Val2001Phe)
 COSMIC
16g.89280412C=CA2241587400ANKRD11c.6130G= (p.Val2044=)
c.*5933G= (n.*5933G=)
c.745-5221G= (n.745-5221G=)
c.152-5221G=
c.6028G= (p.Val2010=)
c.5833G= (p.Val1945=)
c.6001G= (p.Val2001=)
16g.89280412C>GCA397152022ANKRD11c.6130G>C (p.Val2044Leu)
c.*5933G>C (n.*5933G>C)
c.745-5221G>C (n.745-5221G>C)
c.152-5221G>C
c.6028G>C (p.Val2010Leu)
c.5833G>C (p.Val1945Leu)
c.6001G>C (p.Val2001Leu)
 gnomAD v4
16g.89280412C>TCA8241574ANKRD11c.6130G>A (p.Val2044Ile)
c.*5933G>A (n.*5933G>A)
c.745-5221G>A (n.745-5221G>A)
c.152-5221G>A
c.6028G>A (p.Val2010Ile)
c.5833G>A (p.Val1945Ile)
c.6001G>A (p.Val2001Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280413G>ACA8241575ANKRD11c.6129C>T (p.Ala2043=)
c.*5932C>T (n.*5932C>T)
c.745-5222C>T (n.745-5222C>T)
c.152-5222C>T
c.6027C>T (p.Ala2009=)
c.5832C>T (p.Ala1944=)
c.6000C>T (p.Ala2000=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280413G>CCA497373313ANKRD11c.6129C>G (p.Ala2043=)
c.*5932C>G (n.*5932C>G)
c.745-5222C>G (n.745-5222C>G)
c.152-5222C>G
c.6027C>G (p.Ala2009=)
c.5832C>G (p.Ala1944=)
c.6000C>G (p.Ala2000=)
16g.89280413G=CA2241587401ANKRD11c.6129C= (p.Ala2043=)
c.*5932C= (n.*5932C=)
c.745-5222C= (n.745-5222C=)
c.152-5222C=
c.6027C= (p.Ala2009=)
c.5832C= (p.Ala1944=)
c.6000C= (p.Ala2000=)
16g.89280413G>TCA497373314ANKRD11c.6129C>A (p.Ala2043=)
c.*5932C>A (n.*5932C>A)
c.745-5222C>A (n.745-5222C>A)
c.152-5222C>A
c.6027C>A (p.Ala2009=)
c.5832C>A (p.Ala1944=)
c.6000C>A (p.Ala2000=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280414G>ACA397152023ANKRD11c.6128C>T (p.Ala2043Val)
c.*5931C>T (n.*5931C>T)
c.745-5223C>T (n.745-5223C>T)
c.152-5223C>T
c.6026C>T (p.Ala2009Val)
c.5831C>T (p.Ala1944Val)
c.5999C>T (p.Ala2000Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89280414G>CCA397152024ANKRD11c.6128C>G (p.Ala2043Gly)
c.*5931C>G (n.*5931C>G)
c.745-5223C>G (n.745-5223C>G)
c.152-5223C>G
c.6026C>G (p.Ala2009Gly)
c.5831C>G (p.Ala1944Gly)
c.5999C>G (p.Ala2000Gly)
 gnomAD v4
16g.89280414G=CA2241587402ANKRD11c.6128C= (p.Ala2043=)
c.*5931C= (n.*5931C=)
c.745-5223C= (n.745-5223C=)
c.152-5223C=
c.6026C= (p.Ala2009=)
c.5831C= (p.Ala1944=)
c.5999C= (p.Ala2000=)
16g.89280414G>TCA397152025ANKRD11c.6128C>A (p.Ala2043Asp)
c.*5931C>A (n.*5931C>A)
c.745-5223C>A (n.745-5223C>A)
c.152-5223C>A
c.6026C>A (p.Ala2009Asp)
c.5831C>A (p.Ala1944Asp)
c.5999C>A (p.Ala2000Asp)
 gnomAD v4
16g.89280414_89280423delinsGCGTCCACTCCA2241587403ANKRD11c.6119_6128delinsGAGTGGACGC (p.Gly2040=)
c.*5922_*5931delinsGAGTGGACGC (n.*5922_*5931delinsGAGTGGACGC)
c.745-5232_745-5223delinsGAGTGGACGC (n.745-5232_745-5223delinsGAGTGGACGC)
c.152-5232_152-5223delinsGAGTGGACGC
c.6017_6026delinsGAGTGGACGC (p.Gly2006=)
c.5822_5831delinsGAGTGGACGC (p.Gly1941=)
c.5990_5999delinsGAGTGGACGC (p.Gly1997=)
16g.89280415C>ACA397152026ANKRD11c.6127G>T (p.Ala2043Ser)
c.*5930G>T (n.*5930G>T)
c.745-5224G>T (n.745-5224G>T)
c.152-5224G>T
c.6025G>T (p.Ala2009Ser)
c.5830G>T (p.Ala1944Ser)
c.5998G>T (p.Ala2000Ser)
 gnomAD v4
16g.89280415C=CA2241587405ANKRD11c.6127G= (p.Ala2043=)
c.*5930G= (n.*5930G=)
c.745-5224G= (n.745-5224G=)
c.152-5224G=
c.6025G= (p.Ala2009=)
c.5830G= (p.Ala1944=)
c.5998G= (p.Ala2000=)
16g.89280415C>GCA397152027ANKRD11c.6127G>C (p.Ala2043Pro)
c.*5930G>C (n.*5930G>C)
c.745-5224G>C (n.745-5224G>C)
c.152-5224G>C
c.6025G>C (p.Ala2009Pro)
c.5830G>C (p.Ala1944Pro)
c.5998G>C (p.Ala2000Pro)
16g.89280415C>TCA397152028ANKRD11c.6127G>A (p.Ala2043Thr)
c.*5930G>A (n.*5930G>A)
c.745-5224G>A (n.745-5224G>A)
c.152-5224G>A
c.6025G>A (p.Ala2009Thr)
c.5830G>A (p.Ala1944Thr)
c.5998G>A (p.Ala2000Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280420_89280428delCA2241587404ANKRD11c.6119_6127del (p.Gly2040_Asp2042del)
c.*5922_*5930del (n.*5922_*5930del)
c.745-5232_745-5224del (n.745-5232_745-5224del)
c.152-5232_152-5224del
c.6017_6025del (p.Gly2006_Asp2008del)
c.5822_5830del (p.Gly1941_Asp1943del)
c.5990_5998del (p.Gly1997_Asp1999del)
 dbSNP
16g.89280416_89280436dupCA2634942580ANKRD11c.6107_6127dup (p.Asp2042_Ala2043insAspValLysAspGlyValAsp)
c.*5910_*5930dup (n.*5910_*5930dup)
c.745-5244_745-5224dup (n.745-5244_745-5224dup)
c.152-5244_152-5224dup
c.6005_6025dup (p.Asp2008_Ala2009insAspValLysAspGlyValAsp)
c.5810_5830dup (p.Asp1943_Ala1944insAspValLysAspGlyValAsp)
c.5978_5998dup (p.Asp1999_Ala2000insAspValLysAspGlyValAsp)
 gnomAD v4
16g.89280416G>ACA497373323ANKRD11c.6126C>T (p.Asp2042=)
c.*5929C>T (n.*5929C>T)
c.745-5225C>T (n.745-5225C>T)
c.152-5225C>T
c.6024C>T (p.Asp2008=)
c.5829C>T (p.Asp1943=)
c.5997C>T (p.Asp1999=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280416G>CCA397152029ANKRD11c.6126C>G (p.Asp2042Glu)
c.*5929C>G (n.*5929C>G)
c.745-5225C>G (n.745-5225C>G)
c.152-5225C>G
c.6024C>G (p.Asp2008Glu)
c.5829C>G (p.Asp1943Glu)
c.5997C>G (p.Asp1999Glu)
16g.89280416G=CA2241587406ANKRD11c.6126C= (p.Asp2042=)
c.*5929C= (n.*5929C=)
c.745-5225C= (n.745-5225C=)
c.152-5225C=
c.6024C= (p.Asp2008=)
c.5829C= (p.Asp1943=)
c.5997C= (p.Asp1999=)
16g.89280416G>TCA397152030ANKRD11c.6126C>A (p.Asp2042Glu)
c.*5929C>A (n.*5929C>A)
c.745-5225C>A (n.745-5225C>A)
c.152-5225C>A
c.6024C>A (p.Asp2008Glu)
c.5829C>A (p.Asp1943Glu)
c.5997C>A (p.Asp1999Glu)
16g.89280417T>ACA397152032ANKRD11c.6125A>T (p.Asp2042Val)
c.*5928A>T (n.*5928A>T)
c.745-5226A>T (n.745-5226A>T)
c.152-5226A>T
c.6023A>T (p.Asp2008Val)
c.5828A>T (p.Asp1943Val)
c.5996A>T (p.Asp1999Val)
16g.89280417T>CCA8241576ANKRD11c.6125A>G (p.Asp2042Gly)
c.*5928A>G (n.*5928A>G)
c.745-5226A>G (n.745-5226A>G)
c.152-5226A>G
c.6023A>G (p.Asp2008Gly)
c.5828A>G (p.Asp1943Gly)
c.5996A>G (p.Asp1999Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280417T>GCA397152031ANKRD11c.6125A>C (p.Asp2042Ala)
c.*5928A>C (n.*5928A>C)
c.745-5226A>C (n.745-5226A>C)
c.152-5226A>C
c.6023A>C (p.Asp2008Ala)
c.5828A>C (p.Asp1943Ala)
c.5996A>C (p.Asp1999Ala)
16g.89280417T=CA2241587407ANKRD11c.6125A= (p.Asp2042=)
c.*5928A= (n.*5928A=)
c.745-5226A= (n.745-5226A=)
c.152-5226A=
c.6023A= (p.Asp2008=)
c.5828A= (p.Asp1943=)
c.5996A= (p.Asp1999=)
16g.89280418C>ACA397152035ANKRD11c.6124G>T (p.Asp2042Tyr)
c.*5927G>T (n.*5927G>T)
c.745-5227G>T (n.745-5227G>T)
c.152-5227G>T
c.6022G>T (p.Asp2008Tyr)
c.5827G>T (p.Asp1943Tyr)
c.5995G>T (p.Asp1999Tyr)
16g.89280418C=CA2241587408ANKRD11c.6124G= (p.Asp2042=)
c.*5927G= (n.*5927G=)
c.745-5227G= (n.745-5227G=)
c.152-5227G=
c.6022G= (p.Asp2008=)
c.5827G= (p.Asp1943=)
c.5995G= (p.Asp1999=)
16g.89280418C>GCA397152033ANKRD11c.6124G>C (p.Asp2042His)
c.*5927G>C (n.*5927G>C)
c.745-5227G>C (n.745-5227G>C)
c.152-5227G>C
c.6022G>C (p.Asp2008His)
c.5827G>C (p.Asp1943His)
c.5995G>C (p.Asp1999His)
16g.89280418C>TCA397152034ANKRD11c.6124G>A (p.Asp2042Asn)
c.*5927G>A (n.*5927G>A)
c.745-5227G>A (n.745-5227G>A)
c.152-5227G>A
c.6022G>A (p.Asp2008Asn)
c.5827G>A (p.Asp1943Asn)
c.5995G>A (p.Asp1999Asn)
 dbSNP gnomAD v4
16g.89280419C>ACA497373328ANKRD11c.6123G>T (p.Val2041=)
c.*5926G>T (n.*5926G>T)
c.745-5228G>T (n.745-5228G>T)
c.152-5228G>T
c.6021G>T (p.Val2007=)
c.5826G>T (p.Val1942=)
c.5994G>T (p.Val1998=)
 gnomAD v4
16g.89280419C=CA2241587409ANKRD11c.6123G= (p.Val2041=)
c.*5926G= (n.*5926G=)
c.745-5228G= (n.745-5228G=)
c.152-5228G=
c.6021G= (p.Val2007=)
c.5826G= (p.Val1942=)
c.5994G= (p.Val1998=)
16g.89280419C>GCA497373329ANKRD11c.6123G>C (p.Val2041=)
c.*5926G>C (n.*5926G>C)
c.745-5228G>C (n.745-5228G>C)
c.152-5228G>C
c.6021G>C (p.Val2007=)
c.5826G>C (p.Val1942=)
c.5994G>C (p.Val1998=)
16g.89280419C>TCA497373330ANKRD11c.6123G>A (p.Val2041=)
c.*5926G>A (n.*5926G>A)
c.745-5228G>A (n.745-5228G>A)
c.152-5228G>A
c.6021G>A (p.Val2007=)
c.5826G>A (p.Val1942=)
c.5994G>A (p.Val1998=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280420A=CA2241587410ANKRD11c.6122T= (p.Val2041=)
c.*5925T= (n.*5925T=)
c.745-5229T= (n.745-5229T=)
c.152-5229T=
c.6020T= (p.Val2007=)
c.5825T= (p.Val1942=)
c.5993T= (p.Val1998=)
16g.89280420A>CCA397152036ANKRD11c.6122T>G (p.Val2041Gly)
c.*5925T>G (n.*5925T>G)
c.745-5229T>G (n.745-5229T>G)
c.152-5229T>G
c.6020T>G (p.Val2007Gly)
c.5825T>G (p.Val1942Gly)
c.5993T>G (p.Val1998Gly)
16g.89280420A>GCA397152037ANKRD11c.6122T>C (p.Val2041Ala)
c.*5925T>C (n.*5925T>C)
c.745-5229T>C (n.745-5229T>C)
c.152-5229T>C
c.6020T>C (p.Val2007Ala)
c.5825T>C (p.Val1942Ala)
c.5993T>C (p.Val1998Ala)
 dbSNP
16g.89280420A>TCA397152038ANKRD11c.6122T>A (p.Val2041Glu)
c.*5925T>A (n.*5925T>A)
c.745-5229T>A (n.745-5229T>A)
c.152-5229T>A
c.6020T>A (p.Val2007Glu)
c.5825T>A (p.Val1942Glu)
c.5993T>A (p.Val1998Glu)
16g.89280421C>ACA397152041ANKRD11c.6121G>T (p.Val2041Leu)
c.*5924G>T (n.*5924G>T)
c.745-5230G>T (n.745-5230G>T)
c.152-5230G>T
c.6019G>T (p.Val2007Leu)
c.5824G>T (p.Val1942Leu)
c.5992G>T (p.Val1998Leu)
16g.89280421C>GCA397152040ANKRD11c.6121G>C (p.Val2041Leu)
c.*5924G>C (n.*5924G>C)
c.745-5230G>C (n.745-5230G>C)
c.152-5230G>C
c.6019G>C (p.Val2007Leu)
c.5824G>C (p.Val1942Leu)
c.5992G>C (p.Val1998Leu)
16g.89280421C>TCA397152039ANKRD11c.6121G>A (p.Val2041Met)
c.*5924G>A (n.*5924G>A)
c.745-5230G>A (n.745-5230G>A)
c.152-5230G>A
c.6019G>A (p.Val2007Met)
c.5824G>A (p.Val1942Met)
c.5992G>A (p.Val1998Met)
16g.89280422T>ACA497373334ANKRD11c.6120A>T (p.Gly2040=)
c.*5923A>T (n.*5923A>T)
c.745-5231A>T (n.745-5231A>T)
c.152-5231A>T
c.6018A>T (p.Gly2006=)
c.5823A>T (p.Gly1941=)
c.5991A>T (p.Gly1997=)
16g.89280422T>CCA497373336ANKRD11c.6120A>G (p.Gly2040=)
c.*5923A>G (n.*5923A>G)
c.745-5231A>G (n.745-5231A>G)
c.152-5231A>G
c.6018A>G (p.Gly2006=)
c.5823A>G (p.Gly1941=)
c.5991A>G (p.Gly1997=)
 gnomAD v4
16g.89280422T>GCA497373333ANKRD11c.6120A>C (p.Gly2040=)
c.*5923A>C (n.*5923A>C)
c.745-5231A>C (n.745-5231A>C)
c.152-5231A>C
c.6018A>C (p.Gly2006=)
c.5823A>C (p.Gly1941=)
c.5991A>C (p.Gly1997=)
16g.89280423C>ACA397152042ANKRD11c.6119G>T (p.Gly2040Val)
c.*5922G>T (n.*5922G>T)
c.745-5232G>T (n.745-5232G>T)
c.152-5232G>T
c.6017G>T (p.Gly2006Val)
c.5822G>T (p.Gly1941Val)
c.5990G>T (p.Gly1997Val)
 COSMIC
16g.89280423C=CA2241587411ANKRD11c.6119G= (p.Gly2040=)
c.*5922G= (n.*5922G=)
c.745-5232G= (n.745-5232G=)
c.152-5232G=
c.6017G= (p.Gly2006=)
c.5822G= (p.Gly1941=)
c.5990G= (p.Gly1997=)
16g.89280423C>GCA397152043ANKRD11c.6119G>C (p.Gly2040Ala)
c.*5922G>C (n.*5922G>C)
c.745-5232G>C (n.745-5232G>C)
c.152-5232G>C
c.6017G>C (p.Gly2006Ala)
c.5822G>C (p.Gly1941Ala)
c.5990G>C (p.Gly1997Ala)
 gnomAD v4
16g.89280423C>TCA397152044ANKRD11c.6119G>A (p.Gly2040Glu)
c.*5922G>A (n.*5922G>A)
c.745-5232G>A (n.745-5232G>A)
c.152-5232G>A
c.6017G>A (p.Gly2006Glu)
c.5822G>A (p.Gly1941Glu)
c.5990G>A (p.Gly1997Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280424C>ACA397152045ANKRD11c.6118G>T (p.Gly2040Ter)
c.*5921G>T (n.*5921G>T)
c.745-5233G>T (n.745-5233G>T)
c.152-5233G>T
c.6016G>T (p.Gly2006Ter)
c.5821G>T (p.Gly1941Ter)
c.5989G>T (p.Gly1997Ter)
16g.89280424C=CA2241587412ANKRD11c.6118G= (p.Gly2040=)
c.*5921G= (n.*5921G=)
c.745-5233G= (n.745-5233G=)
c.152-5233G=
c.6016G= (p.Gly2006=)
c.5821G= (p.Gly1941=)
c.5989G= (p.Gly1997=)
16g.89280424C>GCA397152046ANKRD11c.6118G>C (p.Gly2040Arg)
c.*5921G>C (n.*5921G>C)
c.745-5233G>C (n.745-5233G>C)
c.152-5233G>C
c.6016G>C (p.Gly2006Arg)
c.5821G>C (p.Gly1941Arg)
c.5989G>C (p.Gly1997Arg)
16g.89280424C>TCA8241577ANKRD11c.6118G>A (p.Gly2040Arg)
c.*5921G>A (n.*5921G>A)
c.745-5233G>A (n.745-5233G>A)
c.152-5233G>A
c.6016G>A (p.Gly2006Arg)
c.5821G>A (p.Gly1941Arg)
c.5989G>A (p.Gly1997Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280425G>ACA8241578ANKRD11c.6117C>T (p.Asp2039=)
c.*5920C>T (n.*5920C>T)
c.745-5234C>T (n.745-5234C>T)
c.152-5234C>T
c.6015C>T (p.Asp2005=)
c.5820C>T (p.Asp1940=)
c.5988C>T (p.Asp1996=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280425G>CCA397152048ANKRD11c.6117C>G (p.Asp2039Glu)
c.*5920C>G (n.*5920C>G)
c.745-5234C>G (n.745-5234C>G)
c.152-5234C>G
c.6015C>G (p.Asp2005Glu)
c.5820C>G (p.Asp1940Glu)
c.5988C>G (p.Asp1996Glu)
16g.89280425G=CA2241587413ANKRD11c.6117C= (p.Asp2039=)
c.*5920C= (n.*5920C=)
c.745-5234C= (n.745-5234C=)
c.152-5234C=
c.6015C= (p.Asp2005=)
c.5820C= (p.Asp1940=)
c.5988C= (p.Asp1996=)
16g.89280425G>TCA397152047ANKRD11c.6117C>A (p.Asp2039Glu)
c.*5920C>A (n.*5920C>A)
c.745-5234C>A (n.745-5234C>A)
c.152-5234C>A
c.6015C>A (p.Asp2005Glu)
c.5820C>A (p.Asp1940Glu)
c.5988C>A (p.Asp1996Glu)
16g.89280426T>ACA397152049ANKRD11c.6116A>T (p.Asp2039Val)
c.*5919A>T (n.*5919A>T)
c.745-5235A>T (n.745-5235A>T)
c.152-5235A>T
c.6014A>T (p.Asp2005Val)
c.5819A>T (p.Asp1940Val)
c.5987A>T (p.Asp1996Val)
16g.89280426T>CCA397152050ANKRD11c.6116A>G (p.Asp2039Gly)
c.*5919A>G (n.*5919A>G)
c.745-5235A>G (n.745-5235A>G)
c.152-5235A>G
c.6014A>G (p.Asp2005Gly)
c.5819A>G (p.Asp1940Gly)
c.5987A>G (p.Asp1996Gly)
 dbSNP gnomAD v4
16g.89280426T>GCA397152051ANKRD11c.6116A>C (p.Asp2039Ala)
c.*5919A>C (n.*5919A>C)
c.745-5235A>C (n.745-5235A>C)
c.152-5235A>C
c.6014A>C (p.Asp2005Ala)
c.5819A>C (p.Asp1940Ala)
c.5987A>C (p.Asp1996Ala)
16g.89280426T=CA2241587414ANKRD11c.6116A= (p.Asp2039=)
c.*5919A= (n.*5919A=)
c.745-5235A= (n.745-5235A=)
c.152-5235A=
c.6014A= (p.Asp2005=)
c.5819A= (p.Asp1940=)
c.5987A= (p.Asp1996=)
16g.89280427C>ACA397152052ANKRD11c.6115G>T (p.Asp2039Tyr)
c.*5918G>T (n.*5918G>T)
c.745-5236G>T (n.745-5236G>T)
c.152-5236G>T
c.6013G>T (p.Asp2005Tyr)
c.5818G>T (p.Asp1940Tyr)
c.5986G>T (p.Asp1996Tyr)
 gnomAD v4
16g.89280427C=CA2241587415ANKRD11c.6115G= (p.Asp2039=)
c.*5918G= (n.*5918G=)
c.745-5236G= (n.745-5236G=)
c.152-5236G=
c.6013G= (p.Asp2005=)
c.5818G= (p.Asp1940=)
c.5986G= (p.Asp1996=)
16g.89280427C>GCA397152053ANKRD11c.6115G>C (p.Asp2039His)
c.*5918G>C (n.*5918G>C)
c.745-5236G>C (n.745-5236G>C)
c.152-5236G>C
c.6013G>C (p.Asp2005His)
c.5818G>C (p.Asp1940His)
c.5986G>C (p.Asp1996His)
16g.89280427C>TCA8241579ANKRD11c.6115G>A (p.Asp2039Asn)
c.*5918G>A (n.*5918G>A)
c.745-5236G>A (n.745-5236G>A)
c.152-5236G>A
c.6013G>A (p.Asp2005Asn)
c.5818G>A (p.Asp1940Asn)
c.5986G>A (p.Asp1996Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280428C>ACA397152054ANKRD11c.6114G>T (p.Lys2038Asn)
c.*5917G>T (n.*5917G>T)
c.745-5237G>T (n.745-5237G>T)
c.152-5237G>T
c.6012G>T (p.Lys2004Asn)
c.5817G>T (p.Lys1939Asn)
c.5985G>T (p.Lys1995Asn)
 gnomAD v4
16g.89280428C>GCA397152055ANKRD11c.6114G>C (p.Lys2038Asn)
c.*5917G>C (n.*5917G>C)
c.745-5237G>C (n.745-5237G>C)
c.152-5237G>C
c.6012G>C (p.Lys2004Asn)
c.5817G>C (p.Lys1939Asn)
c.5985G>C (p.Lys1995Asn)
16g.89280428C>TCA497373353ANKRD11c.6114G>A (p.Lys2038=)
c.*5917G>A (n.*5917G>A)
c.745-5237G>A (n.745-5237G>A)
c.152-5237G>A
c.6012G>A (p.Lys2004=)
c.5817G>A (p.Lys1939=)
c.5985G>A (p.Lys1995=)
 gnomAD v4
16g.89280429T>ACA397152056ANKRD11c.6113A>T (p.Lys2038Met)
c.*5916A>T (n.*5916A>T)
c.745-5238A>T (n.745-5238A>T)
c.152-5238A>T
c.6011A>T (p.Lys2004Met)
c.5816A>T (p.Lys1939Met)
c.5984A>T (p.Lys1995Met)
16g.89280429T>CCA8241581ANKRD11c.6113A>G (p.Lys2038Arg)
c.*5916A>G (n.*5916A>G)
c.745-5238A>G (n.745-5238A>G)
c.152-5238A>G
c.6011A>G (p.Lys2004Arg)
c.5816A>G (p.Lys1939Arg)
c.5984A>G (p.Lys1995Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280429T>GCA8241580ANKRD11c.6113A>C (p.Lys2038Thr)
c.*5916A>C (n.*5916A>C)
c.745-5238A>C (n.745-5238A>C)
c.152-5238A>C
c.6011A>C (p.Lys2004Thr)
c.5816A>C (p.Lys1939Thr)
c.5984A>C (p.Lys1995Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280429T=CA2241587416ANKRD11c.6113A= (p.Lys2038=)
c.*5916A= (n.*5916A=)
c.745-5238A= (n.745-5238A=)
c.152-5238A=
c.6011A= (p.Lys2004=)
c.5816A= (p.Lys1939=)
c.5984A= (p.Lys1995=)
16g.89280430T>ACA397152058ANKRD11c.6112A>T (p.Lys2038Ter)
c.*5915A>T (n.*5915A>T)
c.745-5239A>T (n.745-5239A>T)
c.152-5239A>T
c.6010A>T (p.Lys2004Ter)
c.5815A>T (p.Lys1939Ter)
c.5983A>T (p.Lys1995Ter)
16g.89280430T>CCA8241582ANKRD11c.6112A>G (p.Lys2038Glu)
c.*5915A>G (n.*5915A>G)
c.745-5239A>G (n.745-5239A>G)
c.152-5239A>G
c.6010A>G (p.Lys2004Glu)
c.5815A>G (p.Lys1939Glu)
c.5983A>G (p.Lys1995Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280430T>GCA397152057ANKRD11c.6112A>C (p.Lys2038Gln)
c.*5915A>C (n.*5915A>C)
c.745-5239A>C (n.745-5239A>C)
c.152-5239A>C
c.6010A>C (p.Lys2004Gln)
c.5815A>C (p.Lys1939Gln)
c.5983A>C (p.Lys1995Gln)
 gnomAD v4
16g.89280430T=CA2241587417ANKRD11c.6112A= (p.Lys2038=)
c.*5915A= (n.*5915A=)
c.745-5239A= (n.745-5239A=)
c.152-5239A=
c.6010A= (p.Lys2004=)
c.5815A= (p.Lys1939=)
c.5983A= (p.Lys1995=)
16g.89280430_89280439delinsTGACGTCCTCCA2241587418ANKRD11c.6103_6112delinsGAGGACGTCA (p.Glu2035=)
c.*5906_*5915delinsGAGGACGTCA (n.*5906_*5915delinsGAGGACGTCA)
c.745-5248_745-5239delinsGAGGACGTCA (n.745-5248_745-5239delinsGAGGACGTCA)
c.152-5248_152-5239delinsGAGGACGTCA
c.6001_6010delinsGAGGACGTCA (p.Glu2001=)
c.5806_5815delinsGAGGACGTCA (p.Glu1936=)
c.5974_5983delinsGAGGACGTCA (p.Glu1992=)
16g.89280431G>ACA497373358ANKRD11c.6111C>T (p.Val2037=)
c.*5914C>T (n.*5914C>T)
c.745-5240C>T (n.745-5240C>T)
c.152-5240C>T
c.6009C>T (p.Val2003=)
c.5814C>T (p.Val1938=)
c.5982C>T (p.Val1994=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280431G>CCA8241585ANKRD11c.6111C>G (p.Val2037=)
c.*5914C>G (n.*5914C>G)
c.745-5240C>G (n.745-5240C>G)
c.152-5240C>G
c.6009C>G (p.Val2003=)
c.5814C>G (p.Val1938=)
c.5982C>G (p.Val1994=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280431G=CA2241587419ANKRD11c.6111C= (p.Val2037=)
c.*5914C= (n.*5914C=)
c.745-5240C= (n.745-5240C=)
c.152-5240C=
c.6009C= (p.Val2003=)
c.5814C= (p.Val1938=)
c.5982C= (p.Val1994=)
16g.89280431G>TCA497373360ANKRD11c.6111C>A (p.Val2037=)
c.*5914C>A (n.*5914C>A)
c.745-5240C>A (n.745-5240C>A)
c.152-5240C>A
c.6009C>A (p.Val2003=)
c.5814C>A (p.Val1938=)
c.5982C>A (p.Val1994=)
 gnomAD v4
16g.89280431_89280439delCA8241583ANKRD11c.6103_6111del (p.Glu2035_Val2037del)
c.*5906_*5914del (n.*5906_*5914del)
c.745-5248_745-5240del (n.745-5248_745-5240del)
c.152-5248_152-5240del
c.6001_6009del (p.Glu2001_Val2003del)
c.5806_5814del (p.Glu1936_Val1938del)
c.5974_5982del (p.Glu1992_Val1994del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280431_89280439dupCA8241584ANKRD11c.6103_6111dup (p.Val2037_Lys2038insGluAspVal)
c.*5906_*5914dup (n.*5906_*5914dup)
c.745-5248_745-5240dup (n.745-5248_745-5240dup)
c.152-5248_152-5240dup
c.6001_6009dup (p.Val2003_Lys2004insGluAspVal)
c.5806_5814dup (p.Val1938_Lys1939insGluAspVal)
c.5974_5982dup (p.Val1994_Lys1995insGluAspVal)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280432A>CCA397152059ANKRD11c.6110T>G (p.Val2037Gly)
c.*5913T>G (n.*5913T>G)
c.745-5241T>G (n.745-5241T>G)
c.152-5241T>G
c.6008T>G (p.Val2003Gly)
c.5813T>G (p.Val1938Gly)
c.5981T>G (p.Val1994Gly)
 gnomAD v4
16g.89280432A>GCA397152060ANKRD11c.6110T>C (p.Val2037Ala)
c.*5913T>C (n.*5913T>C)
c.745-5241T>C (n.745-5241T>C)
c.152-5241T>C
c.6008T>C (p.Val2003Ala)
c.5813T>C (p.Val1938Ala)
c.5981T>C (p.Val1994Ala)
 gnomAD v4
16g.89280432A>TCA397152061ANKRD11c.6110T>A (p.Val2037Asp)
c.*5913T>A (n.*5913T>A)
c.745-5241T>A (n.745-5241T>A)
c.152-5241T>A
c.6008T>A (p.Val2003Asp)
c.5813T>A (p.Val1938Asp)
c.5981T>A (p.Val1994Asp)
16g.89280433C>ACA397152062ANKRD11c.6109G>T (p.Val2037Phe)
c.*5912G>T (n.*5912G>T)
c.745-5242G>T (n.745-5242G>T)
c.152-5242G>T
c.6007G>T (p.Val2003Phe)
c.5812G>T (p.Val1938Phe)
c.5980G>T (p.Val1994Phe)
 dbSNP gnomAD v4
16g.89280433C=CA2241587420ANKRD11c.6109G= (p.Val2037=)
c.*5912G= (n.*5912G=)
c.745-5242G= (n.745-5242G=)
c.152-5242G=
c.6007G= (p.Val2003=)
c.5812G= (p.Val1938=)
c.5980G= (p.Val1994=)
16g.89280433C>GCA397152063ANKRD11c.6109G>C (p.Val2037Leu)
c.*5912G>C (n.*5912G>C)
c.745-5242G>C (n.745-5242G>C)
c.152-5242G>C
c.6007G>C (p.Val2003Leu)
c.5812G>C (p.Val1938Leu)
c.5980G>C (p.Val1994Leu)
 gnomAD v4
16g.89280433C>TCA286510721ANKRD11c.6109G>A (p.Val2037Ile)
c.*5912G>A (n.*5912G>A)
c.745-5242G>A (n.745-5242G>A)
c.152-5242G>A
c.6007G>A (p.Val2003Ile)
c.5812G>A (p.Val1938Ile)
c.5980G>A (p.Val1994Ile)
 ClinVar dbSNP gnomAD v4
16g.89280434G>ACA8241586ANKRD11c.6108C>T (p.Asp2036=)
c.*5911C>T (n.*5911C>T)
c.745-5243C>T (n.745-5243C>T)
c.152-5243C>T
c.6006C>T (p.Asp2002=)
c.5811C>T (p.Asp1937=)
c.5979C>T (p.Asp1993=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280434G>CCA397152064ANKRD11c.6108C>G (p.Asp2036Glu)
c.*5911C>G (n.*5911C>G)
c.745-5243C>G (n.745-5243C>G)
c.152-5243C>G
c.6006C>G (p.Asp2002Glu)
c.5811C>G (p.Asp1937Glu)
c.5979C>G (p.Asp1993Glu)
16g.89280434G=CA2241587421ANKRD11c.6108C= (p.Asp2036=)
c.*5911C= (n.*5911C=)
c.745-5243C= (n.745-5243C=)
c.152-5243C=
c.6006C= (p.Asp2002=)
c.5811C= (p.Asp1937=)
c.5979C= (p.Asp1993=)
16g.89280434G>TCA397152065ANKRD11c.6108C>A (p.Asp2036Glu)
c.*5911C>A (n.*5911C>A)
c.745-5243C>A (n.745-5243C>A)
c.152-5243C>A
c.6006C>A (p.Asp2002Glu)
c.5811C>A (p.Asp1937Glu)
c.5979C>A (p.Asp1993Glu)
 gnomAD v4
16g.89280435T>ACA397152066ANKRD11c.6107A>T (p.Asp2036Val)
c.*5910A>T (n.*5910A>T)
c.745-5244A>T (n.745-5244A>T)
c.152-5244A>T
c.6005A>T (p.Asp2002Val)
c.5810A>T (p.Asp1937Val)
c.5978A>T (p.Asp1993Val)
16g.89280435T>CCA397152067ANKRD11c.6107A>G (p.Asp2036Gly)
c.*5910A>G (n.*5910A>G)
c.745-5244A>G (n.745-5244A>G)
c.152-5244A>G
c.6005A>G (p.Asp2002Gly)
c.5810A>G (p.Asp1937Gly)
c.5978A>G (p.Asp1993Gly)
 gnomAD v4
16g.89280435T>GCA397152068ANKRD11c.6107A>C (p.Asp2036Ala)
c.*5910A>C (n.*5910A>C)
c.745-5244A>C (n.745-5244A>C)
c.152-5244A>C
c.6005A>C (p.Asp2002Ala)
c.5810A>C (p.Asp1937Ala)
c.5978A>C (p.Asp1993Ala)
16g.89280436C>ACA397152070ANKRD11c.6106G>T (p.Asp2036Tyr)
c.*5909G>T (n.*5909G>T)
c.745-5245G>T (n.745-5245G>T)
c.152-5245G>T
c.6004G>T (p.Asp2002Tyr)
c.5809G>T (p.Asp1937Tyr)
c.5977G>T (p.Asp1993Tyr)
 gnomAD v4
16g.89280436C=CA2241587422ANKRD11c.6106G= (p.Asp2036=)
c.*5909G= (n.*5909G=)
c.745-5245G= (n.745-5245G=)
c.152-5245G=
c.6004G= (p.Asp2002=)
c.5809G= (p.Asp1937=)
c.5977G= (p.Asp1993=)
16g.89280436C>GCA397152069ANKRD11c.6106G>C (p.Asp2036His)
c.*5909G>C (n.*5909G>C)
c.745-5245G>C (n.745-5245G>C)
c.152-5245G>C
c.6004G>C (p.Asp2002His)
c.5809G>C (p.Asp1937His)
c.5977G>C (p.Asp1993His)
16g.89280436C>TCA8241587ANKRD11c.6106G>A (p.Asp2036Asn)
c.*5909G>A (n.*5909G>A)
c.745-5245G>A (n.745-5245G>A)
c.152-5245G>A
c.6004G>A (p.Asp2002Asn)
c.5809G>A (p.Asp1937Asn)
c.5977G>A (p.Asp1993Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280437C>ACA397152071ANKRD11c.6105G>T (p.Glu2035Asp)
c.*5908G>T (n.*5908G>T)
c.745-5246G>T (n.745-5246G>T)
c.152-5246G>T
c.6003G>T (p.Glu2001Asp)
c.5808G>T (p.Glu1936Asp)
c.5976G>T (p.Glu1992Asp)
 gnomAD v4
16g.89280437C>GCA397152072ANKRD11c.6105G>C (p.Glu2035Asp)
c.*5908G>C (n.*5908G>C)
c.745-5246G>C (n.745-5246G>C)
c.152-5246G>C
c.6003G>C (p.Glu2001Asp)
c.5808G>C (p.Glu1936Asp)
c.5976G>C (p.Glu1992Asp)
16g.89280437C>TCA497373367ANKRD11c.6105G>A (p.Glu2035=)
c.*5908G>A (n.*5908G>A)
c.745-5246G>A (n.745-5246G>A)
c.152-5246G>A
c.6003G>A (p.Glu2001=)
c.5808G>A (p.Glu1936=)
c.5976G>A (p.Glu1992=)
 gnomAD v4
16g.89280438T>ACA8241589ANKRD11c.6104A>T (p.Glu2035Val)
c.*5907A>T (n.*5907A>T)
c.745-5247A>T (n.745-5247A>T)
c.152-5247A>T
c.6002A>T (p.Glu2001Val)
c.5807A>T (p.Glu1936Val)
c.5975A>T (p.Glu1992Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280438T>CCA8241588ANKRD11c.6104A>G (p.Glu2035Gly)
c.*5907A>G (n.*5907A>G)
c.745-5247A>G (n.745-5247A>G)
c.152-5247A>G
c.6002A>G (p.Glu2001Gly)
c.5807A>G (p.Glu1936Gly)
c.5975A>G (p.Glu1992Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280438T>GCA397152073ANKRD11c.6104A>C (p.Glu2035Ala)
c.*5907A>C (n.*5907A>C)
c.745-5247A>C (n.745-5247A>C)
c.152-5247A>C
c.6002A>C (p.Glu2001Ala)
c.5807A>C (p.Glu1936Ala)
c.5975A>C (p.Glu1992Ala)
16g.89280438T=CA2241587423ANKRD11c.6104A= (p.Glu2035=)
c.*5907A= (n.*5907A=)
c.745-5247A= (n.745-5247A=)
c.152-5247A=
c.6002A= (p.Glu2001=)
c.5807A= (p.Glu1936=)
c.5975A= (p.Glu1992=)
16g.89280439C>ACA397152074ANKRD11c.6103G>T (p.Glu2035Ter)
c.*5906G>T (n.*5906G>T)
c.745-5248G>T (n.745-5248G>T)
c.152-5248G>T
c.6001G>T (p.Glu2001Ter)
c.5806G>T (p.Glu1936Ter)
c.5974G>T (p.Glu1992Ter)
 gnomAD v4
16g.89280439C=CA2241587424ANKRD11c.6103G= (p.Glu2035=)
c.*5906G= (n.*5906G=)
c.745-5248G= (n.745-5248G=)
c.152-5248G=
c.6001G= (p.Glu2001=)
c.5806G= (p.Glu1936=)
c.5974G= (p.Glu1992=)
16g.89280439C>GCA8241590ANKRD11c.6103G>C (p.Glu2035Gln)
c.*5906G>C (n.*5906G>C)
c.745-5248G>C (n.745-5248G>C)
c.152-5248G>C
c.6001G>C (p.Glu2001Gln)
c.5806G>C (p.Glu1936Gln)
c.5974G>C (p.Glu1992Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280439C>TCA397152075ANKRD11c.6103G>A (p.Glu2035Lys)
c.*5906G>A (n.*5906G>A)
c.745-5248G>A (n.745-5248G>A)
c.152-5248G>A
c.6001G>A (p.Glu2001Lys)
c.5806G>A (p.Glu1936Lys)
c.5974G>A (p.Glu1992Lys)
 gnomAD v4
16g.89280441_89280445delCA2634942581ANKRD11c.6099_6103del (p.Leu2034GlyfsTer?)
c.*5902_*5906del (n.*5902_*5906del)
c.745-5252_745-5248del (n.745-5252_745-5248del)
c.152-5252_152-5248del
c.5997_6001del (p.Leu2000GlyfsTer?)
c.5802_5806del (p.Leu1935GlyfsTer?)
c.5970_5974del (p.Leu1991GlyfsTer?)
 gnomAD v4
16g.89280440C>ACA497373378ANKRD11c.6102G>T (p.Leu2034=)
c.*5905G>T (n.*5905G>T)
c.745-5249G>T (n.745-5249G>T)
c.152-5249G>T
c.6000G>T (p.Leu2000=)
c.5805G>T (p.Leu1935=)
c.5973G>T (p.Leu1991=)
 gnomAD v4
16g.89280440C>GCA497373379ANKRD11c.6102G>C (p.Leu2034=)
c.*5905G>C (n.*5905G>C)
c.745-5249G>C (n.745-5249G>C)
c.152-5249G>C
c.6000G>C (p.Leu2000=)
c.5805G>C (p.Leu1935=)
c.5973G>C (p.Leu1991=)
16g.89280440C>TCA497373380ANKRD11c.6102G>A (p.Leu2034=)
c.*5905G>A (n.*5905G>A)
c.745-5249G>A (n.745-5249G>A)
c.152-5249G>A
c.6000G>A (p.Leu2000=)
c.5805G>A (p.Leu1935=)
c.5973G>A (p.Leu1991=)
 gnomAD v4
16g.89280441delCA2580092405ANKRD11c.6101del (p.Leu2034ArgfsTer?)
c.*5904del (n.*5904del)
c.745-5250del (n.745-5250del)
c.152-5250del
c.5999del (p.Leu2000ArgfsTer?)
c.5804del (p.Leu1935ArgfsTer?)
c.5972del (p.Leu1991ArgfsTer?)
 ClinVar
16g.89280441A>CCA397152076ANKRD11c.6101T>G (p.Leu2034Arg)
c.*5904T>G (n.*5904T>G)
c.745-5250T>G (n.745-5250T>G)
c.152-5250T>G
c.5999T>G (p.Leu2000Arg)
c.5804T>G (p.Leu1935Arg)
c.5972T>G (p.Leu1991Arg)
16g.89280441A>GCA397152077ANKRD11c.6101T>C (p.Leu2034Pro)
c.*5904T>C (n.*5904T>C)
c.745-5250T>C (n.745-5250T>C)
c.152-5250T>C
c.5999T>C (p.Leu2000Pro)
c.5804T>C (p.Leu1935Pro)
c.5972T>C (p.Leu1991Pro)
 gnomAD v4
16g.89280441A>TCA397152078ANKRD11c.6101T>A (p.Leu2034Gln)
c.*5904T>A (n.*5904T>A)
c.745-5250T>A (n.745-5250T>A)
c.152-5250T>A
c.5999T>A (p.Leu2000Gln)
c.5804T>A (p.Leu1935Gln)
c.5972T>A (p.Leu1991Gln)
16g.89280442G>ACA497373382ANKRD11c.6100C>T (p.Leu2034=)
c.*5903C>T (n.*5903C>T)
c.745-5251C>T (n.745-5251C>T)
c.152-5251C>T
c.5998C>T (p.Leu2000=)
c.5803C>T (p.Leu1935=)
c.5971C>T (p.Leu1991=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280442G>CCA397152079ANKRD11c.6100C>G (p.Leu2034Val)
c.*5903C>G (n.*5903C>G)
c.745-5251C>G (n.745-5251C>G)
c.152-5251C>G
c.5998C>G (p.Leu2000Val)
c.5803C>G (p.Leu1935Val)
c.5971C>G (p.Leu1991Val)
 dbSNP
16g.89280442G=CA2241587425ANKRD11c.6100C= (p.Leu2034=)
c.*5903C= (n.*5903C=)
c.745-5251C= (n.745-5251C=)
c.152-5251C=
c.5998C= (p.Leu2000=)
c.5803C= (p.Leu1935=)
c.5971C= (p.Leu1991=)
16g.89280442G>TCA397152080ANKRD11c.6100C>A (p.Leu2034Met)
c.*5903C>A (n.*5903C>A)
c.745-5251C>A (n.745-5251C>A)
c.152-5251C>A
c.5998C>A (p.Leu2000Met)
c.5803C>A (p.Leu1935Met)
c.5971C>A (p.Leu1991Met)
 gnomAD v4
16g.89280443C>ACA497373388ANKRD11c.6099G>T (p.Gly2033=)
c.*5902G>T (n.*5902G>T)
c.745-5252G>T (n.745-5252G>T)
c.152-5252G>T
c.5997G>T (p.Gly1999=)
c.5802G>T (p.Gly1934=)
c.5970G>T (p.Gly1990=)
 dbSNP gnomAD v4
16g.89280443C=CA2241587426ANKRD11c.6099G= (p.Gly2033=)
c.*5902G= (n.*5902G=)
c.745-5252G= (n.745-5252G=)
c.152-5252G=
c.5997G= (p.Gly1999=)
c.5802G= (p.Gly1934=)
c.5970G= (p.Gly1990=)
16g.89280443C>GCA497373383ANKRD11c.6099G>C (p.Gly2033=)
c.*5902G>C (n.*5902G>C)
c.745-5252G>C (n.745-5252G>C)
c.152-5252G>C
c.5997G>C (p.Gly1999=)
c.5802G>C (p.Gly1934=)
c.5970G>C (p.Gly1990=)
 gnomAD v4
16g.89280443C>TCA497373384ANKRD11c.6099G>A (p.Gly2033=)
c.*5902G>A (n.*5902G>A)
c.745-5252G>A (n.745-5252G>A)
c.152-5252G>A
c.5997G>A (p.Gly1999=)
c.5802G>A (p.Gly1934=)
c.5970G>A (p.Gly1990=)
16g.89280444C>ACA397152081ANKRD11c.6098G>T (p.Gly2033Val)
c.*5901G>T (n.*5901G>T)
c.745-5253G>T (n.745-5253G>T)
c.152-5253G>T
c.5996G>T (p.Gly1999Val)
c.5801G>T (p.Gly1934Val)
c.5969G>T (p.Gly1990Val)
 gnomAD v4
16g.89280444C>GCA397152082ANKRD11c.6098G>C (p.Gly2033Ala)
c.*5901G>C (n.*5901G>C)
c.745-5253G>C (n.745-5253G>C)
c.152-5253G>C
c.5996G>C (p.Gly1999Ala)
c.5801G>C (p.Gly1934Ala)
c.5969G>C (p.Gly1990Ala)
16g.89280444C>TCA397152083ANKRD11c.6098G>A (p.Gly2033Glu)
c.*5901G>A (n.*5901G>A)
c.745-5253G>A (n.745-5253G>A)
c.152-5253G>A
c.5996G>A (p.Gly1999Glu)
c.5801G>A (p.Gly1934Glu)
c.5969G>A (p.Gly1990Glu)
 gnomAD v4
16g.89280445C>ACA8241591ANKRD11c.6097G>T (p.Gly2033Trp)
c.*5900G>T (n.*5900G>T)
c.745-5254G>T (n.745-5254G>T)
c.152-5254G>T
c.5995G>T (p.Gly1999Trp)
c.5800G>T (p.Gly1934Trp)
c.5968G>T (p.Gly1990Trp)
 ClinVar dbSNP ExAC gnomAD v4
16g.89280445C=CA2241587427ANKRD11c.6097G= (p.Gly2033=)
c.*5900G= (n.*5900G=)
c.745-5254G= (n.745-5254G=)
c.152-5254G=
c.5995G= (p.Gly1999=)
c.5800G= (p.Gly1934=)
c.5968G= (p.Gly1990=)
16g.89280445C>GCA397152084ANKRD11c.6097G>C (p.Gly2033Arg)
c.*5900G>C (n.*5900G>C)
c.745-5254G>C (n.745-5254G>C)
c.152-5254G>C
c.5995G>C (p.Gly1999Arg)
c.5800G>C (p.Gly1934Arg)
c.5968G>C (p.Gly1990Arg)
16g.89280445C>TCA397152085ANKRD11c.6097G>A (p.Gly2033Arg)
c.*5900G>A (n.*5900G>A)
c.745-5254G>A (n.745-5254G>A)
c.152-5254G>A
c.5995G>A (p.Gly1999Arg)
c.5800G>A (p.Gly1934Arg)
c.5968G>A (p.Gly1990Arg)
16g.89280446C>ACA497373394ANKRD11c.6096G>T (p.Pro2032=)
c.*5899G>T (n.*5899G>T)
c.745-5255G>T (n.745-5255G>T)
c.152-5255G>T
c.5994G>T (p.Pro1998=)
c.5799G>T (p.Pro1933=)
c.5967G>T (p.Pro1989=)
 gnomAD v4
16g.89280446C=CA2241587428ANKRD11c.6096G= (p.Pro2032=)
c.*5899G= (n.*5899G=)
c.745-5255G= (n.745-5255G=)
c.152-5255G=
c.5994G= (p.Pro1998=)
c.5799G= (p.Pro1933=)
c.5967G= (p.Pro1989=)
16g.89280446C>GCA497373395ANKRD11c.6096G>C (p.Pro2032=)
c.*5899G>C (n.*5899G>C)
c.745-5255G>C (n.745-5255G>C)
c.152-5255G>C
c.5994G>C (p.Pro1998=)
c.5799G>C (p.Pro1933=)
c.5967G>C (p.Pro1989=)
 gnomAD v4
16g.89280446C>TCA497373396ANKRD11c.6096G>A (p.Pro2032=)
c.*5899G>A (n.*5899G>A)
c.745-5255G>A (n.745-5255G>A)
c.152-5255G>A
c.5994G>A (p.Pro1998=)
c.5799G>A (p.Pro1933=)
c.5967G>A (p.Pro1989=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280447G>ACA8241592ANKRD11c.6095C>T (p.Pro2032Leu)
c.*5898C>T (n.*5898C>T)
c.745-5256C>T (n.745-5256C>T)
c.152-5256C>T
c.5993C>T (p.Pro1998Leu)
c.5798C>T (p.Pro1933Leu)
c.5966C>T (p.Pro1989Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280447G>CCA8241593ANKRD11c.6095C>G (p.Pro2032Arg)
c.*5898C>G (n.*5898C>G)
c.745-5256C>G (n.745-5256C>G)
c.152-5256C>G
c.5993C>G (p.Pro1998Arg)
c.5798C>G (p.Pro1933Arg)
c.5966C>G (p.Pro1989Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280447G=CA2241587429ANKRD11c.6095C= (p.Pro2032=)
c.*5898C= (n.*5898C=)
c.745-5256C= (n.745-5256C=)
c.152-5256C=
c.5993C= (p.Pro1998=)
c.5798C= (p.Pro1933=)
c.5966C= (p.Pro1989=)
16g.89280447G>TCA397152086ANKRD11c.6095C>A (p.Pro2032Gln)
c.*5898C>A (n.*5898C>A)
c.745-5256C>A (n.745-5256C>A)
c.152-5256C>A
c.5993C>A (p.Pro1998Gln)
c.5798C>A (p.Pro1933Gln)
c.5966C>A (p.Pro1989Gln)
 gnomAD v4
16g.89280448G>ACA397152087ANKRD11c.6094C>T (p.Pro2032Ser)
c.*5897C>T (n.*5897C>T)
c.745-5257C>T (n.745-5257C>T)
c.152-5257C>T
c.5992C>T (p.Pro1998Ser)
c.5797C>T (p.Pro1933Ser)
c.5965C>T (p.Pro1989Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89280448G>CCA397152088ANKRD11c.6094C>G (p.Pro2032Ala)
c.*5897C>G (n.*5897C>G)
c.745-5257C>G (n.745-5257C>G)
c.152-5257C>G
c.5992C>G (p.Pro1998Ala)
c.5797C>G (p.Pro1933Ala)
c.5965C>G (p.Pro1989Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280448G=CA2241587430ANKRD11c.6094C= (p.Pro2032=)
c.*5897C= (n.*5897C=)
c.745-5257C= (n.745-5257C=)
c.152-5257C=
c.5992C= (p.Pro1998=)
c.5797C= (p.Pro1933=)
c.5965C= (p.Pro1989=)
16g.89280448G>TCA397152089ANKRD11c.6094C>A (p.Pro2032Thr)
c.*5897C>A (n.*5897C>A)
c.745-5257C>A (n.745-5257C>A)
c.152-5257C>A
c.5992C>A (p.Pro1998Thr)
c.5797C>A (p.Pro1933Thr)
c.5965C>A (p.Pro1989Thr)
 gnomAD v4
16g.89280449C>ACA397152091ANKRD11c.6093G>T (p.Glu2031Asp)
c.*5896G>T (n.*5896G>T)
c.745-5258G>T (n.745-5258G>T)
c.152-5258G>T
c.5991G>T (p.Glu1997Asp)
c.5796G>T (p.Glu1932Asp)
c.5964G>T (p.Glu1988Asp)
 gnomAD v4
16g.89280449C=CA2241587431ANKRD11c.6093G= (p.Glu2031=)
c.*5896G= (n.*5896G=)
c.745-5258G= (n.745-5258G=)
c.152-5258G=
c.5991G= (p.Glu1997=)
c.5796G= (p.Glu1932=)
c.5964G= (p.Glu1988=)
16g.89280449C>GCA397152090ANKRD11c.6093G>C (p.Glu2031Asp)
c.*5896G>C (n.*5896G>C)
c.745-5258G>C (n.745-5258G>C)
c.152-5258G>C
c.5991G>C (p.Glu1997Asp)
c.5796G>C (p.Glu1932Asp)
c.5964G>C (p.Glu1988Asp)
16g.89280449C>TCA8241594ANKRD11c.6093G>A (p.Glu2031=)
c.*5896G>A (n.*5896G>A)
c.745-5258G>A (n.745-5258G>A)
c.152-5258G>A
c.5991G>A (p.Glu1997=)
c.5796G>A (p.Glu1932=)
c.5964G>A (p.Glu1988=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280450T>ACA397152092ANKRD11c.6092A>T (p.Glu2031Val)
c.*5895A>T (n.*5895A>T)
c.745-5259A>T (n.745-5259A>T)
c.152-5259A>T
c.5990A>T (p.Glu1997Val)
c.5795A>T (p.Glu1932Val)
c.5963A>T (p.Glu1988Val)
16g.89280450T>CCA397152093ANKRD11c.6092A>G (p.Glu2031Gly)
c.*5895A>G (n.*5895A>G)
c.745-5259A>G (n.745-5259A>G)
c.152-5259A>G
c.5990A>G (p.Glu1997Gly)
c.5795A>G (p.Glu1932Gly)
c.5963A>G (p.Glu1988Gly)
 gnomAD v4
16g.89280450T>GCA397152094ANKRD11c.6092A>C (p.Glu2031Ala)
c.*5895A>C (n.*5895A>C)
c.745-5259A>C (n.745-5259A>C)
c.152-5259A>C
c.5990A>C (p.Glu1997Ala)
c.5795A>C (p.Glu1932Ala)
c.5963A>C (p.Glu1988Ala)
16g.89280451C>ACA397152095ANKRD11c.6091G>T (p.Glu2031Ter)
c.*5894G>T (n.*5894G>T)
c.745-5260G>T (n.745-5260G>T)
c.152-5260G>T
c.5989G>T (p.Glu1997Ter)
c.5794G>T (p.Glu1932Ter)
c.5962G>T (p.Glu1988Ter)
 gnomAD v4
16g.89280451C=CA2241587432ANKRD11c.6091G= (p.Glu2031=)
c.*5894G= (n.*5894G=)
c.745-5260G= (n.745-5260G=)
c.152-5260G=
c.5989G= (p.Glu1997=)
c.5794G= (p.Glu1932=)
c.5962G= (p.Glu1988=)
16g.89280451C>GCA397152096ANKRD11c.6091G>C (p.Glu2031Gln)
c.*5894G>C (n.*5894G>C)
c.745-5260G>C (n.745-5260G>C)
c.152-5260G>C
c.5989G>C (p.Glu1997Gln)
c.5794G>C (p.Glu1932Gln)
c.5962G>C (p.Glu1988Gln)
 ClinVar gnomAD v4
16g.89280451C>TCA397152097ANKRD11c.6091G>A (p.Glu2031Lys)
c.*5894G>A (n.*5894G>A)
c.745-5260G>A (n.745-5260G>A)
c.152-5260G>A
c.5989G>A (p.Glu1997Lys)
c.5794G>A (p.Glu1932Lys)
c.5962G>A (p.Glu1988Lys)
 dbSNP gnomAD v3 gnomAD v4
16g.89280452A>CCA497373406ANKRD11c.6090T>G (p.Ala2030=)
c.*5893T>G (n.*5893T>G)
c.745-5261T>G (n.745-5261T>G)
c.152-5261T>G
c.5988T>G (p.Ala1996=)
c.5793T>G (p.Ala1931=)
c.5961T>G (p.Ala1987=)
16g.89280452A>GCA497373407ANKRD11c.6090T>C (p.Ala2030=)
c.*5893T>C (n.*5893T>C)
c.745-5261T>C (n.745-5261T>C)
c.152-5261T>C
c.5988T>C (p.Ala1996=)
c.5793T>C (p.Ala1931=)
c.5961T>C (p.Ala1987=)
 gnomAD v4
16g.89280452A>TCA497373408ANKRD11c.6090T>A (p.Ala2030=)
c.*5893T>A (n.*5893T>A)
c.745-5261T>A (n.745-5261T>A)
c.152-5261T>A
c.5988T>A (p.Ala1996=)
c.5793T>A (p.Ala1931=)
c.5961T>A (p.Ala1987=)
16g.89280453G>ACA397152098ANKRD11c.6089C>T (p.Ala2030Val)
c.*5892C>T (n.*5892C>T)
c.745-5262C>T (n.745-5262C>T)
c.152-5262C>T
c.5987C>T (p.Ala1996Val)
c.5792C>T (p.Ala1931Val)
c.5960C>T (p.Ala1987Val)
 gnomAD v4
16g.89280453G>CCA397152099ANKRD11c.6089C>G (p.Ala2030Gly)
c.*5892C>G (n.*5892C>G)
c.745-5262C>G (n.745-5262C>G)
c.152-5262C>G
c.5987C>G (p.Ala1996Gly)
c.5792C>G (p.Ala1931Gly)
c.5960C>G (p.Ala1987Gly)
16g.89280453G>TCA397152100ANKRD11c.6089C>A (p.Ala2030Asp)
c.*5892C>A (n.*5892C>A)
c.745-5262C>A (n.745-5262C>A)
c.152-5262C>A
c.5987C>A (p.Ala1996Asp)
c.5792C>A (p.Ala1931Asp)
c.5960C>A (p.Ala1987Asp)
16g.89280454C>ACA397152101ANKRD11c.6088G>T (p.Ala2030Ser)
c.*5891G>T (n.*5891G>T)
c.745-5263G>T (n.745-5263G>T)
c.152-5263G>T
c.5986G>T (p.Ala1996Ser)
c.5791G>T (p.Ala1931Ser)
c.5959G>T (p.Ala1987Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89280454C=CA2241587433ANKRD11c.6088G= (p.Ala2030=)
c.*5891G= (n.*5891G=)
c.745-5263G= (n.745-5263G=)
c.152-5263G=
c.5986G= (p.Ala1996=)
c.5791G= (p.Ala1931=)
c.5959G= (p.Ala1987=)
16g.89280454C>GCA397152102ANKRD11c.6088G>C (p.Ala2030Pro)
c.*5891G>C (n.*5891G>C)
c.745-5263G>C (n.745-5263G>C)
c.152-5263G>C
c.5986G>C (p.Ala1996Pro)
c.5791G>C (p.Ala1931Pro)
c.5959G>C (p.Ala1987Pro)
16g.89280454C>TCA8241595ANKRD11c.6088G>A (p.Ala2030Thr)
c.*5891G>A (n.*5891G>A)
c.745-5263G>A (n.745-5263G>A)
c.152-5263G>A
c.5986G>A (p.Ala1996Thr)
c.5791G>A (p.Ala1931Thr)
c.5959G>A (p.Ala1987Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280455G>ACA8241596ANKRD11c.6087C>T (p.Val2029=)
c.*5890C>T (n.*5890C>T)
c.745-5264C>T (n.745-5264C>T)
c.152-5264C>T
c.5985C>T (p.Val1995=)
c.5790C>T (p.Val1930=)
c.5958C>T (p.Val1986=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280455G>CCA497373414ANKRD11c.6087C>G (p.Val2029=)
c.*5890C>G (n.*5890C>G)
c.745-5264C>G (n.745-5264C>G)
c.152-5264C>G
c.5985C>G (p.Val1995=)
c.5790C>G (p.Val1930=)
c.5958C>G (p.Val1986=)
16g.89280455G=CA2241587434ANKRD11c.6087C= (p.Val2029=)
c.*5890C= (n.*5890C=)
c.745-5264C= (n.745-5264C=)
c.152-5264C=
c.5985C= (p.Val1995=)
c.5790C= (p.Val1930=)
c.5958C= (p.Val1986=)
16g.89280455G>TCA497373415ANKRD11c.6087C>A (p.Val2029=)
c.*5890C>A (n.*5890C>A)
c.745-5264C>A (n.745-5264C>A)
c.152-5264C>A
c.5985C>A (p.Val1995=)
c.5790C>A (p.Val1930=)
c.5958C>A (p.Val1986=)
 gnomAD v4
16g.89280456A>CCA397152104ANKRD11c.6086T>G (p.Val2029Gly)
c.*5889T>G (n.*5889T>G)
c.745-5265T>G (n.745-5265T>G)
c.152-5265T>G
c.5984T>G (p.Val1995Gly)
c.5789T>G (p.Val1930Gly)
c.5957T>G (p.Val1986Gly)
16g.89280456A>GCA397152103ANKRD11c.6086T>C (p.Val2029Ala)
c.*5889T>C (n.*5889T>C)
c.745-5265T>C (n.745-5265T>C)
c.152-5265T>C
c.5984T>C (p.Val1995Ala)
c.5789T>C (p.Val1930Ala)
c.5957T>C (p.Val1986Ala)
16g.89280456A>TCA397152105ANKRD11c.6086T>A (p.Val2029Asp)
c.*5889T>A (n.*5889T>A)
c.745-5265T>A (n.745-5265T>A)
c.152-5265T>A
c.5984T>A (p.Val1995Asp)
c.5789T>A (p.Val1930Asp)
c.5957T>A (p.Val1986Asp)
16g.89280457C>ACA8241598ANKRD11c.6085G>T (p.Val2029Phe)
c.*5888G>T (n.*5888G>T)
c.745-5266G>T (n.745-5266G>T)
c.152-5266G>T
c.5983G>T (p.Val1995Phe)
c.5788G>T (p.Val1930Phe)
c.5956G>T (p.Val1986Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280457C=CA2241587435ANKRD11c.6085G= (p.Val2029=)
c.*5888G= (n.*5888G=)
c.745-5266G= (n.745-5266G=)
c.152-5266G=
c.5983G= (p.Val1995=)
c.5788G= (p.Val1930=)
c.5956G= (p.Val1986=)
16g.89280457C>GCA397152106ANKRD11c.6085G>C (p.Val2029Leu)
c.*5888G>C (n.*5888G>C)
c.745-5266G>C (n.745-5266G>C)
c.152-5266G>C
c.5983G>C (p.Val1995Leu)
c.5788G>C (p.Val1930Leu)
c.5956G>C (p.Val1986Leu)
 gnomAD v4
16g.89280457C>TCA8241597ANKRD11c.6085G>A (p.Val2029Ile)
c.*5888G>A (n.*5888G>A)
c.745-5266G>A (n.745-5266G>A)
c.152-5266G>A
c.5983G>A (p.Val1995Ile)
c.5788G>A (p.Val1930Ile)
c.5956G>A (p.Val1986Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280458G>ACA8241599ANKRD11c.6084C>T (p.Pro2028=)
c.*5887C>T (n.*5887C>T)
c.745-5267C>T (n.745-5267C>T)
c.152-5267C>T
c.5982C>T (p.Pro1994=)
c.5787C>T (p.Pro1929=)
c.5955C>T (p.Pro1985=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280458G>CCA8241600ANKRD11c.6084C>G (p.Pro2028=)
c.*5887C>G (n.*5887C>G)
c.745-5267C>G (n.745-5267C>G)
c.152-5267C>G
c.5982C>G (p.Pro1994=)
c.5787C>G (p.Pro1929=)
c.5955C>G (p.Pro1985=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280458G=CA2241587436ANKRD11c.6084C= (p.Pro2028=)
c.*5887C= (n.*5887C=)
c.745-5267C= (n.745-5267C=)
c.152-5267C=
c.5982C= (p.Pro1994=)
c.5787C= (p.Pro1929=)
c.5955C= (p.Pro1985=)
16g.89280458G>TCA497373424ANKRD11c.6084C>A (p.Pro2028=)
c.*5887C>A (n.*5887C>A)
c.745-5267C>A (n.745-5267C>A)
c.152-5267C>A
c.5982C>A (p.Pro1994=)
c.5787C>A (p.Pro1929=)
c.5955C>A (p.Pro1985=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280464_89280477delCA2695223930ANKRD11c.6071_6084del (p.Pro2024ArgfsTer3)
c.*5874_*5887del (n.*5874_*5887del)
c.745-5280_745-5267del (n.745-5280_745-5267del)
c.152-5280_152-5267del
c.5969_5982del (p.Pro1990ArgfsTer3)
c.5774_5787del (p.Pro1925ArgfsTer3)
c.5942_5955del (p.Pro1981ArgfsTer3)
16g.89280459G>ACA397152107ANKRD11c.6083C>T (p.Pro2028Leu)
c.*5886C>T (n.*5886C>T)
c.745-5268C>T (n.745-5268C>T)
c.152-5268C>T
c.5981C>T (p.Pro1994Leu)
c.5786C>T (p.Pro1929Leu)
c.5954C>T (p.Pro1985Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280459G>CCA397152108ANKRD11c.6083C>G (p.Pro2028Arg)
c.*5886C>G (n.*5886C>G)
c.745-5268C>G (n.745-5268C>G)
c.152-5268C>G
c.5981C>G (p.Pro1994Arg)
c.5786C>G (p.Pro1929Arg)
c.5954C>G (p.Pro1985Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280459G=CA2241587437ANKRD11c.6083C= (p.Pro2028=)
c.*5886C= (n.*5886C=)
c.745-5268C= (n.745-5268C=)
c.152-5268C=
c.5981C= (p.Pro1994=)
c.5786C= (p.Pro1929=)
c.5954C= (p.Pro1985=)
16g.89280459G>TCA397152109ANKRD11c.6083C>A (p.Pro2028His)
c.*5886C>A (n.*5886C>A)
c.745-5268C>A (n.745-5268C>A)
c.152-5268C>A
c.5981C>A (p.Pro1994His)
c.5786C>A (p.Pro1929His)
c.5954C>A (p.Pro1985His)
16g.89280460G>ACA397152110ANKRD11c.6082C>T (p.Pro2028Ser)
c.*5885C>T (n.*5885C>T)
c.745-5269C>T (n.745-5269C>T)
c.152-5269C>T
c.5980C>T (p.Pro1994Ser)
c.5785C>T (p.Pro1929Ser)
c.5953C>T (p.Pro1985Ser)
 gnomAD v4
16g.89280460G>CCA397152111ANKRD11c.6082C>G (p.Pro2028Ala)
c.*5885C>G (n.*5885C>G)
c.745-5269C>G (n.745-5269C>G)
c.152-5269C>G
c.5980C>G (p.Pro1994Ala)
c.5785C>G (p.Pro1929Ala)
c.5953C>G (p.Pro1985Ala)
 dbSNP
16g.89280460G=CA2241587438ANKRD11c.6082C= (p.Pro2028=)
c.*5885C= (n.*5885C=)
c.745-5269C= (n.745-5269C=)
c.152-5269C=
c.5980C= (p.Pro1994=)
c.5785C= (p.Pro1929=)
c.5953C= (p.Pro1985=)
16g.89280460G>TCA397152112ANKRD11c.6082C>A (p.Pro2028Thr)
c.*5885C>A (n.*5885C>A)
c.745-5269C>A (n.745-5269C>A)
c.152-5269C>A
c.5980C>A (p.Pro1994Thr)
c.5785C>A (p.Pro1929Thr)
c.5953C>A (p.Pro1985Thr)
16g.89280460_89280475delinsGCAGAGCGTACGGGGCCA2241587439ANKRD11c.6067_6082delinsGCCCCGTACGCTCTGC (p.Ala2023=)
c.*5870_*5885delinsGCCCCGTACGCTCTGC (n.*5870_*5885delinsGCCCCGTACGCTCTGC)
c.745-5284_745-5269delinsGCCCCGTACGCTCTGC (n.745-5284_745-5269delinsGCCCCGTACGCTCTGC)
c.152-5284_152-5269delinsGCCCCGTACGCTCTGC
c.5965_5980delinsGCCCCGTACGCTCTGC (p.Ala1989=)
c.5770_5785delinsGCCCCGTACGCTCTGC (p.Ala1924=)
c.5938_5953delinsGCCCCGTACGCTCTGC (p.Ala1980=)
16g.89280461C>ACA497373429ANKRD11c.6081G>T (p.Leu2027=)
c.*5884G>T (n.*5884G>T)
c.745-5270G>T (n.745-5270G>T)
c.152-5270G>T
c.5979G>T (p.Leu1993=)
c.5784G>T (p.Leu1928=)
c.5952G>T (p.Leu1984=)
 gnomAD v4
16g.89280461C=CA2241587440ANKRD11c.6081G= (p.Leu2027=)
c.*5884G= (n.*5884G=)
c.745-5270G= (n.745-5270G=)
c.152-5270G=
c.5979G= (p.Leu1993=)
c.5784G= (p.Leu1928=)
c.5952G= (p.Leu1984=)
16g.89280461C>GCA497373430ANKRD11c.6081G>C (p.Leu2027=)
c.*5884G>C (n.*5884G>C)
c.745-5270G>C (n.745-5270G>C)
c.152-5270G>C
c.5979G>C (p.Leu1993=)
c.5784G>C (p.Leu1928=)
c.5952G>C (p.Leu1984=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280461C>TCA497373431ANKRD11c.6081G>A (p.Leu2027=)
c.*5884G>A (n.*5884G>A)
c.745-5270G>A (n.745-5270G>A)
c.152-5270G>A
c.5979G>A (p.Leu1993=)
c.5784G>A (p.Leu1928=)
c.5952G>A (p.Leu1984=)
16g.89280461_89280475delinsGGCA915949411ANKRD11c.6067_6081delinsCC (p.Ala2023ProfsTer?)
c.*5870_*5884delinsCC (n.*5870_*5884delinsCC)
c.745-5284_745-5270delinsCC (n.745-5284_745-5270delinsCC)
c.152-5284_152-5270delinsCC
c.5965_5979delinsCC (p.Ala1989ProfsTer?)
c.5770_5784delinsCC (p.Ala1924ProfsTer?)
c.5938_5952delinsCC (p.Ala1980ProfsTer?)
 ClinVar dbSNP
16g.89280462A=CA2241587441ANKRD11c.6080T= (p.Leu2027=)
c.*5883T= (n.*5883T=)
c.745-5271T= (n.745-5271T=)
c.152-5271T=
c.5978T= (p.Leu1993=)
c.5783T= (p.Leu1928=)
c.5951T= (p.Leu1984=)
16g.89280462A>CCA397152113ANKRD11c.6080T>G (p.Leu2027Arg)
c.*5883T>G (n.*5883T>G)
c.745-5271T>G (n.745-5271T>G)
c.152-5271T>G
c.5978T>G (p.Leu1993Arg)
c.5783T>G (p.Leu1928Arg)
c.5951T>G (p.Leu1984Arg)
16g.89280462A>GCA397152114ANKRD11c.6080T>C (p.Leu2027Pro)
c.*5883T>C (n.*5883T>C)
c.745-5271T>C (n.745-5271T>C)
c.152-5271T>C
c.5978T>C (p.Leu1993Pro)
c.5783T>C (p.Leu1928Pro)
c.5951T>C (p.Leu1984Pro)
 dbSNP gnomAD v4
16g.89280462A>TCA397152115ANKRD11c.6080T>A (p.Leu2027Gln)
c.*5883T>A (n.*5883T>A)
c.745-5271T>A (n.745-5271T>A)
c.152-5271T>A
c.5978T>A (p.Leu1993Gln)
c.5783T>A (p.Leu1928Gln)
c.5951T>A (p.Leu1984Gln)
16g.89280462_89280464delCA2634942584ANKRD11c.6078_6080del (p.Leu2027del)
c.*5881_*5883del (n.*5881_*5883del)
c.745-5273_745-5271del (n.745-5273_745-5271del)
c.152-5273_152-5271del
c.5976_5978del (p.Leu1993del)
c.5781_5783del (p.Leu1928del)
c.5949_5951del (p.Leu1984del)
 gnomAD v4
16g.89280463G>ACA497373435ANKRD11c.6079C>T (p.Leu2027=)
c.*5882C>T (n.*5882C>T)
c.745-5272C>T (n.745-5272C>T)
c.152-5272C>T
c.5977C>T (p.Leu1993=)
c.5782C>T (p.Leu1928=)
c.5950C>T (p.Leu1984=)
 dbSNP gnomAD v4
16g.89280463G>CCA8241601ANKRD11c.6079C>G (p.Leu2027Val)
c.*5882C>G (n.*5882C>G)
c.745-5272C>G (n.745-5272C>G)
c.152-5272C>G
c.5977C>G (p.Leu1993Val)
c.5782C>G (p.Leu1928Val)
c.5950C>G (p.Leu1984Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280463G=CA2241587442ANKRD11c.6079C= (p.Leu2027=)
c.*5882C= (n.*5882C=)
c.745-5272C= (n.745-5272C=)
c.152-5272C=
c.5977C= (p.Leu1993=)
c.5782C= (p.Leu1928=)
c.5950C= (p.Leu1984=)
16g.89280463G>TCA397152116ANKRD11c.6079C>A (p.Leu2027Met)
c.*5882C>A (n.*5882C>A)
c.745-5272C>A (n.745-5272C>A)
c.152-5272C>A
c.5977C>A (p.Leu1993Met)
c.5782C>A (p.Leu1928Met)
c.5950C>A (p.Leu1984Met)
 gnomAD v4
16g.89280464A>CCA497373440ANKRD11c.6078T>G (p.Ala2026=)
c.*5881T>G (n.*5881T>G)
c.745-5273T>G (n.745-5273T>G)
c.152-5273T>G
c.5976T>G (p.Ala1992=)
c.5781T>G (p.Ala1927=)
c.5949T>G (p.Ala1983=)
16g.89280464A>GCA497373437ANKRD11c.6078T>C (p.Ala2026=)
c.*5881T>C (n.*5881T>C)
c.745-5273T>C (n.745-5273T>C)
c.152-5273T>C
c.5976T>C (p.Ala1992=)
c.5781T>C (p.Ala1927=)
c.5949T>C (p.Ala1983=)
16g.89280464A>TCA497373438ANKRD11c.6078T>A (p.Ala2026=)
c.*5881T>A (n.*5881T>A)
c.745-5273T>A (n.745-5273T>A)
c.152-5273T>A
c.5976T>A (p.Ala1992=)
c.5781T>A (p.Ala1927=)
c.5949T>A (p.Ala1983=)
16g.89280465G>ACA8241602ANKRD11c.6077C>T (p.Ala2026Val)
c.*5880C>T (n.*5880C>T)
c.745-5274C>T (n.745-5274C>T)
c.152-5274C>T
c.5975C>T (p.Ala1992Val)
c.5780C>T (p.Ala1927Val)
c.5948C>T (p.Ala1983Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280465G>CCA397152118ANKRD11c.6077C>G (p.Ala2026Gly)
c.*5880C>G (n.*5880C>G)
c.745-5274C>G (n.745-5274C>G)
c.152-5274C>G
c.5975C>G (p.Ala1992Gly)
c.5780C>G (p.Ala1927Gly)
c.5948C>G (p.Ala1983Gly)
 gnomAD v4
16g.89280465G=CA2241587443ANKRD11c.6077C= (p.Ala2026=)
c.*5880C= (n.*5880C=)
c.745-5274C= (n.745-5274C=)
c.152-5274C=
c.5975C= (p.Ala1992=)
c.5780C= (p.Ala1927=)
c.5948C= (p.Ala1983=)
16g.89280465G>TCA397152117ANKRD11c.6077C>A (p.Ala2026Asp)
c.*5880C>A (n.*5880C>A)
c.745-5274C>A (n.745-5274C>A)
c.152-5274C>A
c.5975C>A (p.Ala1992Asp)
c.5780C>A (p.Ala1927Asp)
c.5948C>A (p.Ala1983Asp)
16g.89280466C>ACA397152119ANKRD11c.6076G>T (p.Ala2026Ser)
c.*5879G>T (n.*5879G>T)
c.745-5275G>T (n.745-5275G>T)
c.152-5275G>T
c.5974G>T (p.Ala1992Ser)
c.5779G>T (p.Ala1927Ser)
c.5947G>T (p.Ala1983Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89280466C=CA2241587444ANKRD11c.6076G= (p.Ala2026=)
c.*5879G= (n.*5879G=)
c.745-5275G= (n.745-5275G=)
c.152-5275G=
c.5974G= (p.Ala1992=)
c.5779G= (p.Ala1927=)
c.5947G= (p.Ala1983=)
16g.89280466C>GCA397152120ANKRD11c.6076G>C (p.Ala2026Pro)
c.*5879G>C (n.*5879G>C)
c.745-5275G>C (n.745-5275G>C)
c.152-5275G>C
c.5974G>C (p.Ala1992Pro)
c.5779G>C (p.Ala1927Pro)
c.5947G>C (p.Ala1983Pro)
 ClinVar gnomAD v4
16g.89280466C>TCA8241603ANKRD11c.6076G>A (p.Ala2026Thr)
c.*5879G>A (n.*5879G>A)
c.745-5275G>A (n.745-5275G>A)
c.152-5275G>A
c.5974G>A (p.Ala1992Thr)
c.5779G>A (p.Ala1927Thr)
c.5947G>A (p.Ala1983Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280467G>ACA497373448ANKRD11c.6075C>T (p.Tyr2025=)
c.*5878C>T (n.*5878C>T)
c.745-5276C>T (n.745-5276C>T)
c.152-5276C>T
c.5973C>T (p.Tyr1991=)
c.5778C>T (p.Tyr1926=)
c.5946C>T (p.Tyr1982=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280467G>CCA397152121ANKRD11c.6075C>G (p.Tyr2025Ter)
c.*5878C>G (n.*5878C>G)
c.745-5276C>G (n.745-5276C>G)
c.152-5276C>G
c.5973C>G (p.Tyr1991Ter)
c.5778C>G (p.Tyr1926Ter)
c.5946C>G (p.Tyr1982Ter)
16g.89280467G=CA2241587445ANKRD11c.6075C= (p.Tyr2025=)
c.*5878C= (n.*5878C=)
c.745-5276C= (n.745-5276C=)
c.152-5276C=
c.5973C= (p.Tyr1991=)
c.5778C= (p.Tyr1926=)
c.5946C= (p.Tyr1982=)
16g.89280467G>TCA397152122ANKRD11c.6075C>A (p.Tyr2025Ter)
c.*5878C>A (n.*5878C>A)
c.745-5276C>A (n.745-5276C>A)
c.152-5276C>A
c.5973C>A (p.Tyr1991Ter)
c.5778C>A (p.Tyr1926Ter)
c.5946C>A (p.Tyr1982Ter)
16g.89280473_89280502dupCA8241604ANKRD11c.6046_6075dup (p.Tyr2025_Ala2026insProAlaProProAlaSerProAlaProTyr)
c.*5849_*5878dup (n.*5849_*5878dup)
c.745-5305_745-5276dup (n.745-5305_745-5276dup)
c.152-5305_152-5276dup
c.5944_5973dup (p.Tyr1991_Ala1992insProAlaProProAlaSerProAlaProTyr)
c.5749_5778dup (p.Tyr1926_Ala1927insProAlaProProAlaSerProAlaProTyr)
c.5917_5946dup (p.Tyr1982_Ala1983insProAlaProProAlaSerProAlaProTyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280468T>ACA397152123ANKRD11c.6074A>T (p.Tyr2025Phe)
c.*5877A>T (n.*5877A>T)
c.745-5277A>T (n.745-5277A>T)
c.152-5277A>T
c.5972A>T (p.Tyr1991Phe)
c.5777A>T (p.Tyr1926Phe)
c.5945A>T (p.Tyr1982Phe)
 gnomAD v4
16g.89280468T>CCA397152124ANKRD11c.6074A>G (p.Tyr2025Cys)
c.*5877A>G (n.*5877A>G)
c.745-5277A>G (n.745-5277A>G)
c.152-5277A>G
c.5972A>G (p.Tyr1991Cys)
c.5777A>G (p.Tyr1926Cys)
c.5945A>G (p.Tyr1982Cys)
 dbSNP gnomAD v4
16g.89280468T>GCA397152125ANKRD11c.6074A>C (p.Tyr2025Ser)
c.*5877A>C (n.*5877A>C)
c.745-5277A>C (n.745-5277A>C)
c.152-5277A>C
c.5972A>C (p.Tyr1991Ser)
c.5777A>C (p.Tyr1926Ser)
c.5945A>C (p.Tyr1982Ser)
16g.89280468T=CA2241587446ANKRD11c.6074A= (p.Tyr2025=)
c.*5877A= (n.*5877A=)
c.745-5277A= (n.745-5277A=)
c.152-5277A=
c.5972A= (p.Tyr1991=)
c.5777A= (p.Tyr1926=)
c.5945A= (p.Tyr1982=)
16g.89280469A>CCA397152128ANKRD11c.6073T>G (p.Tyr2025Asp)
c.*5876T>G (n.*5876T>G)
c.745-5278T>G (n.745-5278T>G)
c.152-5278T>G
c.5971T>G (p.Tyr1991Asp)
c.5776T>G (p.Tyr1926Asp)
c.5944T>G (p.Tyr1982Asp)
16g.89280469A>GCA397152127ANKRD11c.6073T>C (p.Tyr2025His)
c.*5876T>C (n.*5876T>C)
c.745-5278T>C (n.745-5278T>C)
c.152-5278T>C
c.5971T>C (p.Tyr1991His)
c.5776T>C (p.Tyr1926His)
c.5944T>C (p.Tyr1982His)
16g.89280469A>TCA397152126ANKRD11c.6073T>A (p.Tyr2025Asn)
c.*5876T>A (n.*5876T>A)
c.745-5278T>A (n.745-5278T>A)
c.152-5278T>A
c.5971T>A (p.Tyr1991Asn)
c.5776T>A (p.Tyr1926Asn)
c.5944T>A (p.Tyr1982Asn)
16g.89280470C>ACA497373453ANKRD11c.6072G>T (p.Pro2024=)
c.*5875G>T (n.*5875G>T)
c.745-5279G>T (n.745-5279G>T)
c.152-5279G>T
c.5970G>T (p.Pro1990=)
c.5775G>T (p.Pro1925=)
c.5943G>T (p.Pro1981=)
 dbSNP gnomAD v4
16g.89280470C=CA2241587447ANKRD11c.6072G= (p.Pro2024=)
c.*5875G= (n.*5875G=)
c.745-5279G= (n.745-5279G=)
c.152-5279G=
c.5970G= (p.Pro1990=)
c.5775G= (p.Pro1925=)
c.5943G= (p.Pro1981=)
16g.89280470C>GCA8241605ANKRD11c.6072G>C (p.Pro2024=)
c.*5875G>C (n.*5875G>C)
c.745-5279G>C (n.745-5279G>C)
c.152-5279G>C
c.5970G>C (p.Pro1990=)
c.5775G>C (p.Pro1925=)
c.5943G>C (p.Pro1981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280470C>TCA8241606ANKRD11c.6072G>A (p.Pro2024=)
c.*5875G>A (n.*5875G>A)
c.745-5279G>A (n.745-5279G>A)
c.152-5279G>A
c.5970G>A (p.Pro1990=)
c.5775G>A (p.Pro1925=)
c.5943G>A (p.Pro1981=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280470_89280479delinsCGGGGCAGGACA2241587448ANKRD11c.6063_6072delinsTCCTGCCCCG (p.Ser2021=)
c.*5866_*5875delinsTCCTGCCCCG (n.*5866_*5875delinsTCCTGCCCCG)
c.745-5288_745-5279delinsTCCTGCCCCG (n.745-5288_745-5279delinsTCCTGCCCCG)
c.152-5288_152-5279delinsTCCTGCCCCG
c.5961_5970delinsTCCTGCCCCG (p.Ser1987=)
c.5766_5775delinsTCCTGCCCCG (p.Ser1922=)
c.5934_5943delinsTCCTGCCCCG (p.Ser1978=)
16g.89280471G>ACA8241608ANKRD11c.6071C>T (p.Pro2024Leu)
c.*5874C>T (n.*5874C>T)
c.745-5280C>T (n.745-5280C>T)
c.152-5280C>T
c.5969C>T (p.Pro1990Leu)
c.5774C>T (p.Pro1925Leu)
c.5942C>T (p.Pro1981Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280471G>CCA397152129ANKRD11c.6071C>G (p.Pro2024Arg)
c.*5874C>G (n.*5874C>G)
c.745-5280C>G (n.745-5280C>G)
c.152-5280C>G
c.5969C>G (p.Pro1990Arg)
c.5774C>G (p.Pro1925Arg)
c.5942C>G (p.Pro1981Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89280471G=CA2241587449ANKRD11c.6071C= (p.Pro2024=)
c.*5874C= (n.*5874C=)
c.745-5280C= (n.745-5280C=)
c.152-5280C=
c.5969C= (p.Pro1990=)
c.5774C= (p.Pro1925=)
c.5942C= (p.Pro1981=)
16g.89280471G>TCA397152130ANKRD11c.6071C>A (p.Pro2024Gln)
c.*5874C>A (n.*5874C>A)
c.745-5280C>A (n.745-5280C>A)
c.152-5280C>A
c.5969C>A (p.Pro1990Gln)
c.5774C>A (p.Pro1925Gln)
c.5942C>A (p.Pro1981Gln)
 gnomAD v4
16g.89280472_89280480dupCA624452395ANKRD11c.6063_6071dup (p.Pro2024_Tyr2025insProAlaPro)
c.*5866_*5874dup (n.*5866_*5874dup)
c.745-5288_745-5280dup (n.745-5288_745-5280dup)
c.152-5288_152-5280dup
c.5961_5969dup (p.Pro1990_Tyr1991insProAlaPro)
c.5766_5774dup (p.Pro1925_Tyr1926insProAlaPro)
c.5934_5942dup (p.Pro1981_Tyr1982insProAlaPro)
 dbSNP gnomAD v2
16g.89280472_89280480delCA8241607ANKRD11c.6063_6071del (p.Pro2022_Pro2024del)
c.*5866_*5874del (n.*5866_*5874del)
c.745-5288_745-5280del (n.745-5288_745-5280del)
c.152-5288_152-5280del
c.5961_5969del (p.Pro1988_Pro1990del)
c.5766_5774del (p.Pro1923_Pro1925del)
c.5934_5942del (p.Pro1979_Pro1981del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280472G>ACA397152133ANKRD11c.6070C>T (p.Pro2024Ser)
c.*5873C>T (n.*5873C>T)
c.745-5281C>T (n.745-5281C>T)
c.152-5281C>T
c.5968C>T (p.Pro1990Ser)
c.5773C>T (p.Pro1925Ser)
c.5941C>T (p.Pro1981Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.89280472G>CCA397152132ANKRD11c.6070C>G (p.Pro2024Ala)
c.*5873C>G (n.*5873C>G)
c.745-5281C>G (n.745-5281C>G)
c.152-5281C>G
c.5968C>G (p.Pro1990Ala)
c.5773C>G (p.Pro1925Ala)
c.5941C>G (p.Pro1981Ala)
16g.89280472G=CA2241587450ANKRD11c.6070C= (p.Pro2024=)
c.*5873C= (n.*5873C=)
c.745-5281C= (n.745-5281C=)
c.152-5281C=
c.5968C= (p.Pro1990=)
c.5773C= (p.Pro1925=)
c.5941C= (p.Pro1981=)
16g.89280472G>TCA397152131ANKRD11c.6070C>A (p.Pro2024Thr)
c.*5873C>A (n.*5873C>A)
c.745-5281C>A (n.745-5281C>A)
c.152-5281C>A
c.5968C>A (p.Pro1990Thr)
c.5773C>A (p.Pro1925Thr)
c.5941C>A (p.Pro1981Thr)
 ClinVar dbSNP gnomAD v4
16g.89280472_89280481delinsGGGCAGGAGACA2241587451ANKRD11c.6061_6070delinsTCTCCTGCCC (p.Ser2021=)
c.*5864_*5873delinsTCTCCTGCCC (n.*5864_*5873delinsTCTCCTGCCC)
c.745-5290_745-5281delinsTCTCCTGCCC (n.745-5290_745-5281delinsTCTCCTGCCC)
c.152-5290_152-5281delinsTCTCCTGCCC
c.5959_5968delinsTCTCCTGCCC (p.Ser1987=)
c.5764_5773delinsTCTCCTGCCC (p.Ser1922=)
c.5932_5941delinsTCTCCTGCCC (p.Ser1978=)
16g.89280473G>ACA8241611ANKRD11c.6069C>T (p.Ala2023=)
c.*5872C>T (n.*5872C>T)
c.745-5282C>T (n.745-5282C>T)
c.152-5282C>T
c.5967C>T (p.Ala1989=)
c.5772C>T (p.Ala1924=)
c.5940C>T (p.Ala1980=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280473G>CCA497373468ANKRD11c.6069C>G (p.Ala2023=)
c.*5872C>G (n.*5872C>G)
c.745-5282C>G (n.745-5282C>G)
c.152-5282C>G
c.5967C>G (p.Ala1989=)
c.5772C>G (p.Ala1924=)
c.5940C>G (p.Ala1980=)
 gnomAD v4
16g.89280473G=CA2241587452ANKRD11c.6069C= (p.Ala2023=)
c.*5872C= (n.*5872C=)
c.745-5282C= (n.745-5282C=)
c.152-5282C=
c.5967C= (p.Ala1989=)
c.5772C= (p.Ala1924=)
c.5940C= (p.Ala1980=)
16g.89280473G>TCA497373470ANKRD11c.6069C>A (p.Ala2023=)
c.*5872C>A (n.*5872C>A)
c.745-5282C>A (n.745-5282C>A)
c.152-5282C>A
c.5967C>A (p.Ala1989=)
c.5772C>A (p.Ala1924=)
c.5940C>A (p.Ala1980=)
16g.89280476_89280484dupCA8241609ANKRD11c.6061_6069dup (p.Ala2023_Pro2024insSerProAla)
c.*5864_*5872dup (n.*5864_*5872dup)
c.745-5290_745-5282dup (n.745-5290_745-5282dup)
c.152-5290_152-5282dup
c.5959_5967dup (p.Ala1989_Pro1990insSerProAla)
c.5764_5772dup (p.Ala1924_Pro1925insSerProAla)
c.5932_5940dup (p.Ala1980_Pro1981insSerProAla)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280476_89280484delCA8241610ANKRD11c.6061_6069del (p.Ser2021_Ala2023del)
c.*5864_*5872del (n.*5864_*5872del)
c.745-5290_745-5282del (n.745-5290_745-5282del)
c.152-5290_152-5282del
c.5959_5967del (p.Ser1987_Ala1989del)
c.5764_5772del (p.Ser1922_Ala1924del)
c.5932_5940del (p.Ser1978_Ala1980del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280474G>ACA8241612ANKRD11c.6068C>T (p.Ala2023Val)
c.*5871C>T (n.*5871C>T)
c.745-5283C>T (n.745-5283C>T)
c.152-5283C>T
c.5966C>T (p.Ala1989Val)
c.5771C>T (p.Ala1924Val)
c.5939C>T (p.Ala1980Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280474G>CCA397152134ANKRD11c.6068C>G (p.Ala2023Gly)
c.*5871C>G (n.*5871C>G)
c.745-5283C>G (n.745-5283C>G)
c.152-5283C>G
c.5966C>G (p.Ala1989Gly)
c.5771C>G (p.Ala1924Gly)
c.5939C>G (p.Ala1980Gly)
16g.89280474G=CA2241587453ANKRD11c.6068C= (p.Ala2023=)
c.*5871C= (n.*5871C=)
c.745-5283C= (n.745-5283C=)
c.152-5283C=
c.5966C= (p.Ala1989=)
c.5771C= (p.Ala1924=)
c.5939C= (p.Ala1980=)
16g.89280474G>TCA397152135ANKRD11c.6068C>A (p.Ala2023Asp)
c.*5871C>A (n.*5871C>A)
c.745-5283C>A (n.745-5283C>A)
c.152-5283C>A
c.5966C>A (p.Ala1989Asp)
c.5771C>A (p.Ala1924Asp)
c.5939C>A (p.Ala1980Asp)
16g.89280475C>ACA8241615ANKRD11c.6067G>T (p.Ala2023Ser)
c.*5870G>T (n.*5870G>T)
c.745-5284G>T (n.745-5284G>T)
c.152-5284G>T
c.5965G>T (p.Ala1989Ser)
c.5770G>T (p.Ala1924Ser)
c.5938G>T (p.Ala1980Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280475C=CA2241587454ANKRD11c.6067G= (p.Ala2023=)
c.*5870G= (n.*5870G=)
c.745-5284G= (n.745-5284G=)
c.152-5284G=
c.5965G= (p.Ala1989=)
c.5770G= (p.Ala1924=)
c.5938G= (p.Ala1980=)
16g.89280475C>GCA8241613ANKRD11c.6067G>C (p.Ala2023Pro)
c.*5870G>C (n.*5870G>C)
c.745-5284G>C (n.745-5284G>C)
c.152-5284G>C
c.5965G>C (p.Ala1989Pro)
c.5770G>C (p.Ala1924Pro)
c.5938G>C (p.Ala1980Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280475C>TCA8241614ANKRD11c.6067G>A (p.Ala2023Thr)
c.*5870G>A (n.*5870G>A)
c.745-5284G>A (n.745-5284G>A)
c.152-5284G>A
c.5965G>A (p.Ala1989Thr)
c.5770G>A (p.Ala1924Thr)
c.5938G>A (p.Ala1980Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280476A=CA2241587455ANKRD11c.6066T= (p.Pro2022=)
c.*5869T= (n.*5869T=)
c.745-5285T= (n.745-5285T=)
c.152-5285T=
c.5964T= (p.Pro1988=)
c.5769T= (p.Pro1923=)
c.5937T= (p.Pro1979=)
16g.89280476A>CCA497373472ANKRD11c.6066T>G (p.Pro2022=)
c.*5869T>G (n.*5869T>G)
c.745-5285T>G (n.745-5285T>G)
c.152-5285T>G
c.5964T>G (p.Pro1988=)
c.5769T>G (p.Pro1923=)
c.5937T>G (p.Pro1979=)
16g.89280476A>GCA497373474ANKRD11c.6066T>C (p.Pro2022=)
c.*5869T>C (n.*5869T>C)
c.745-5285T>C (n.745-5285T>C)
c.152-5285T>C
c.5964T>C (p.Pro1988=)
c.5769T>C (p.Pro1923=)
c.5937T>C (p.Pro1979=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280476A>TCA497373477ANKRD11c.6066T>A (p.Pro2022=)
c.*5869T>A (n.*5869T>A)
c.745-5285T>A (n.745-5285T>A)
c.152-5285T>A
c.5964T>A (p.Pro1988=)
c.5769T>A (p.Pro1923=)
c.5937T>A (p.Pro1979=)
16g.89280477G>ACA8241617ANKRD11c.6065C>T (p.Pro2022Leu)
c.*5868C>T (n.*5868C>T)
c.745-5286C>T (n.745-5286C>T)
c.152-5286C>T
c.5963C>T (p.Pro1988Leu)
c.5768C>T (p.Pro1923Leu)
c.5936C>T (p.Pro1979Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280477G>CCA397152136ANKRD11c.6065C>G (p.Pro2022Arg)
c.*5868C>G (n.*5868C>G)
c.745-5286C>G (n.745-5286C>G)
c.152-5286C>G
c.5963C>G (p.Pro1988Arg)
c.5768C>G (p.Pro1923Arg)
c.5936C>G (p.Pro1979Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280477G=CA2241587456ANKRD11c.6065C= (p.Pro2022=)
c.*5868C= (n.*5868C=)
c.745-5286C= (n.745-5286C=)
c.152-5286C=
c.5963C= (p.Pro1988=)
c.5768C= (p.Pro1923=)
c.5936C= (p.Pro1979=)
16g.89280477G>TCA397152137ANKRD11c.6065C>A (p.Pro2022His)
c.*5868C>A (n.*5868C>A)
c.745-5286C>A (n.745-5286C>A)
c.152-5286C>A
c.5963C>A (p.Pro1988His)
c.5768C>A (p.Pro1923His)
c.5936C>A (p.Pro1979His)
16g.89280481_89280489dupCA8241616ANKRD11c.6057_6065dup (p.Pro2022_Ala2023insAlaSerPro)
c.*5860_*5868dup (n.*5860_*5868dup)
c.745-5294_745-5286dup (n.745-5294_745-5286dup)
c.152-5294_152-5286dup
c.5955_5963dup (p.Pro1988_Ala1989insAlaSerPro)
c.5760_5768dup (p.Pro1923_Ala1924insAlaSerPro)
c.5928_5936dup (p.Pro1979_Ala1980insAlaSerPro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280481_89280489delCA2576097288ANKRD11c.6057_6065del (p.Ala2020_Pro2022del)
c.*5860_*5868del (n.*5860_*5868del)
c.745-5294_745-5286del (n.745-5294_745-5286del)
c.152-5294_152-5286del
c.5955_5963del (p.Ala1986_Pro1988del)
c.5760_5768del (p.Ala1921_Pro1923del)
c.5928_5936del (p.Ala1977_Pro1979del)
 gnomAD v4
16g.89280479_89280496dupCA2634942614ANKRD11c.6048_6065dup (p.Pro2022_Ala2023insAlaProProAlaSerPro)
c.*5851_*5868dup (n.*5851_*5868dup)
c.745-5303_745-5286dup (n.745-5303_745-5286dup)
c.152-5303_152-5286dup
c.5946_5963dup (p.Pro1988_Ala1989insAlaProProAlaSerPro)
c.5751_5768dup (p.Pro1923_Ala1924insAlaProProAlaSerPro)
c.5919_5936dup (p.Pro1979_Ala1980insAlaProProAlaSerPro)
 gnomAD v4
16g.89280478G>ACA8241618ANKRD11c.6064C>T (p.Pro2022Ser)
c.*5867C>T (n.*5867C>T)
c.745-5287C>T (n.745-5287C>T)
c.152-5287C>T
c.5962C>T (p.Pro1988Ser)
c.5767C>T (p.Pro1923Ser)
c.5935C>T (p.Pro1979Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280478G>CCA397152138ANKRD11c.6064C>G (p.Pro2022Ala)
c.*5867C>G (n.*5867C>G)
c.745-5287C>G (n.745-5287C>G)
c.152-5287C>G
c.5962C>G (p.Pro1988Ala)
c.5767C>G (p.Pro1923Ala)
c.5935C>G (p.Pro1979Ala)
 ClinVar
16g.89280478G=CA2241587457ANKRD11c.6064C= (p.Pro2022=)
c.*5867C= (n.*5867C=)
c.745-5287C= (n.745-5287C=)
c.152-5287C=
c.5962C= (p.Pro1988=)
c.5767C= (p.Pro1923=)
c.5935C= (p.Pro1979=)
16g.89280478G>TCA397152139ANKRD11c.6064C>A (p.Pro2022Thr)
c.*5867C>A (n.*5867C>A)
c.745-5287C>A (n.745-5287C>A)
c.152-5287C>A
c.5962C>A (p.Pro1988Thr)
c.5767C>A (p.Pro1923Thr)
c.5935C>A (p.Pro1979Thr)
16g.89280479A=CA2241587458ANKRD11c.6063T= (p.Ser2021=)
c.*5866T= (n.*5866T=)
c.745-5288T= (n.745-5288T=)
c.152-5288T=
c.5961T= (p.Ser1987=)
c.5766T= (p.Ser1922=)
c.5934T= (p.Ser1978=)
16g.89280479A>CCA497373479ANKRD11c.6063T>G (p.Ser2021=)
c.*5866T>G (n.*5866T>G)
c.745-5288T>G (n.745-5288T>G)
c.152-5288T>G
c.5961T>G (p.Ser1987=)
c.5766T>G (p.Ser1922=)
c.5934T>G (p.Ser1978=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280479A>GCA497373480ANKRD11c.6063T>C (p.Ser2021=)
c.*5866T>C (n.*5866T>C)
c.745-5288T>C (n.745-5288T>C)
c.152-5288T>C
c.5961T>C (p.Ser1987=)
c.5766T>C (p.Ser1922=)
c.5934T>C (p.Ser1978=)
 gnomAD v4
16g.89280479A>TCA497373481ANKRD11c.6063T>A (p.Ser2021=)
c.*5866T>A (n.*5866T>A)
c.745-5288T>A (n.745-5288T>A)
c.152-5288T>A
c.5961T>A (p.Ser1987=)
c.5766T>A (p.Ser1922=)
c.5934T>A (p.Ser1978=)
 dbSNP gnomAD v4
16g.89280480G>ACA8241619ANKRD11c.6062C>T (p.Ser2021Phe)
c.*5865C>T (n.*5865C>T)
c.745-5289C>T (n.745-5289C>T)
c.152-5289C>T
c.5960C>T (p.Ser1987Phe)
c.5765C>T (p.Ser1922Phe)
c.5933C>T (p.Ser1978Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280480G>CCA397152140ANKRD11c.6062C>G (p.Ser2021Cys)
c.*5865C>G (n.*5865C>G)
c.745-5289C>G (n.745-5289C>G)
c.152-5289C>G
c.5960C>G (p.Ser1987Cys)
c.5765C>G (p.Ser1922Cys)
c.5933C>G (p.Ser1978Cys)
16g.89280480G=CA2241587459ANKRD11c.6062C= (p.Ser2021=)
c.*5865C= (n.*5865C=)
c.745-5289C= (n.745-5289C=)
c.152-5289C=
c.5960C= (p.Ser1987=)
c.5765C= (p.Ser1922=)
c.5933C= (p.Ser1978=)
16g.89280480G>TCA397152141ANKRD11c.6062C>A (p.Ser2021Tyr)
c.*5865C>A (n.*5865C>A)
c.745-5289C>A (n.745-5289C>A)
c.152-5289C>A
c.5960C>A (p.Ser1987Tyr)
c.5765C>A (p.Ser1922Tyr)
c.5933C>A (p.Ser1978Tyr)

Number of alleles fetched