Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89280070C>ACA353445ANKRD11c.6472G>T (p.Glu2158Ter)
c.*6275G>T (n.*6275G>T)
c.745-4879G>T (n.745-4879G>T)
c.152-4879G>T
c.6370G>T (p.Glu2124Ter)
c.6175G>T (p.Glu2059Ter)
c.6343G>T (p.Glu2115Ter)
 ClinVar dbSNP
16g.89280070C=CA2241587151ANKRD11c.6472G= (p.Glu2158=)
c.*6275G= (n.*6275G=)
c.745-4879G= (n.745-4879G=)
c.152-4879G=
c.6370G= (p.Glu2124=)
c.6175G= (p.Glu2059=)
c.6343G= (p.Glu2115=)
16g.89280070C>GCA397151086ANKRD11c.6472G>C (p.Glu2158Gln)
c.*6275G>C (n.*6275G>C)
c.745-4879G>C (n.745-4879G>C)
c.152-4879G>C
c.6370G>C (p.Glu2124Gln)
c.6175G>C (p.Glu2059Gln)
c.6343G>C (p.Glu2115Gln)
16g.89280070C>TCA397151087ANKRD11c.6472G>A (p.Glu2158Lys)
c.*6275G>A (n.*6275G>A)
c.745-4879G>A (n.745-4879G>A)
c.152-4879G>A
c.6370G>A (p.Glu2124Lys)
c.6175G>A (p.Glu2059Lys)
c.6343G>A (p.Glu2115Lys)
 dbSNP gnomAD v4
16g.89280071T>ACA397151088ANKRD11c.6471A>T (p.Glu2157Asp)
c.*6274A>T (n.*6274A>T)
c.745-4880A>T (n.745-4880A>T)
c.152-4880A>T
c.6369A>T (p.Glu2123Asp)
c.6174A>T (p.Glu2058Asp)
c.6342A>T (p.Glu2114Asp)
16g.89280071T>CCA8241434ANKRD11c.6471A>G (p.Glu2157=)
c.*6274A>G (n.*6274A>G)
c.745-4880A>G (n.745-4880A>G)
c.152-4880A>G
c.6369A>G (p.Glu2123=)
c.6174A>G (p.Glu2058=)
c.6342A>G (p.Glu2114=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280071T>GCA397151089ANKRD11c.6471A>C (p.Glu2157Asp)
c.*6274A>C (n.*6274A>C)
c.745-4880A>C (n.745-4880A>C)
c.152-4880A>C
c.6369A>C (p.Glu2123Asp)
c.6174A>C (p.Glu2058Asp)
c.6342A>C (p.Glu2114Asp)
16g.89280071T=CA2241587152ANKRD11c.6471A= (p.Glu2157=)
c.*6274A= (n.*6274A=)
c.745-4880A= (n.745-4880A=)
c.152-4880A=
c.6369A= (p.Glu2123=)
c.6174A= (p.Glu2058=)
c.6342A= (p.Glu2114=)
16g.89280072T>ACA397151090ANKRD11c.6470A>T (p.Glu2157Val)
c.*6273A>T (n.*6273A>T)
c.745-4881A>T (n.745-4881A>T)
c.152-4881A>T
c.6368A>T (p.Glu2123Val)
c.6173A>T (p.Glu2058Val)
c.6341A>T (p.Glu2114Val)
16g.89280072T>CCA397151091ANKRD11c.6470A>G (p.Glu2157Gly)
c.*6273A>G (n.*6273A>G)
c.745-4881A>G (n.745-4881A>G)
c.152-4881A>G
c.6368A>G (p.Glu2123Gly)
c.6173A>G (p.Glu2058Gly)
c.6341A>G (p.Glu2114Gly)
16g.89280072T>GCA397151092ANKRD11c.6470A>C (p.Glu2157Ala)
c.*6273A>C (n.*6273A>C)
c.745-4881A>C (n.745-4881A>C)
c.152-4881A>C
c.6368A>C (p.Glu2123Ala)
c.6173A>C (p.Glu2058Ala)
c.6341A>C (p.Glu2114Ala)
16g.89280072_89280073delinsTCCA2241587153ANKRD11c.6469_6470delinsGA (p.Glu2157=)
c.*6272_*6273delinsGA (n.*6272_*6273delinsGA)
c.745-4882_745-4881delinsGA (n.745-4882_745-4881delinsGA)
c.152-4882_152-4881delinsGA
c.6367_6368delinsGA (p.Glu2123=)
c.6172_6173delinsGA (p.Glu2058=)
c.6340_6341delinsGA (p.Glu2114=)
16g.89280073C>ACA397151093ANKRD11c.6469G>T (p.Glu2157Ter)
c.*6272G>T (n.*6272G>T)
c.745-4882G>T (n.745-4882G>T)
c.152-4882G>T
c.6367G>T (p.Glu2123Ter)
c.6172G>T (p.Glu2058Ter)
c.6340G>T (p.Glu2114Ter)
16g.89280073C>GCA397151094ANKRD11c.6469G>C (p.Glu2157Gln)
c.*6272G>C (n.*6272G>C)
c.745-4882G>C (n.745-4882G>C)
c.152-4882G>C
c.6367G>C (p.Glu2123Gln)
c.6172G>C (p.Glu2058Gln)
c.6340G>C (p.Glu2114Gln)
16g.89280073C>TCA397151095ANKRD11c.6469G>A (p.Glu2157Lys)
c.*6272G>A (n.*6272G>A)
c.745-4882G>A (n.745-4882G>A)
c.152-4882G>A
c.6367G>A (p.Glu2123Lys)
c.6172G>A (p.Glu2058Lys)
c.6340G>A (p.Glu2114Lys)
16g.89280074delCA1139664900ANKRD11c.6469del (p.Glu2157LysfsTer18)
c.*6272del (n.*6272del)
c.745-4882del (n.745-4882del)
c.152-4882del
c.6367del (p.Glu2123LysfsTer18)
c.6172del (p.Glu2058LysfsTer18)
c.6340del (p.Glu2114LysfsTer18)
 ClinVar dbSNP
16g.89280074C>ACA497373198ANKRD11c.6468G>T (p.Val2156=)
c.*6271G>T (n.*6271G>T)
c.745-4883G>T (n.745-4883G>T)
c.152-4883G>T
c.6366G>T (p.Val2122=)
c.6171G>T (p.Val2057=)
c.6339G>T (p.Val2113=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280074C=CA2241587154ANKRD11c.6468G= (p.Val2156=)
c.*6271G= (n.*6271G=)
c.745-4883G= (n.745-4883G=)
c.152-4883G=
c.6366G= (p.Val2122=)
c.6171G= (p.Val2057=)
c.6339G= (p.Val2113=)
16g.89280074C>GCA497373199ANKRD11c.6468G>C (p.Val2156=)
c.*6271G>C (n.*6271G>C)
c.745-4883G>C (n.745-4883G>C)
c.152-4883G>C
c.6366G>C (p.Val2122=)
c.6171G>C (p.Val2057=)
c.6339G>C (p.Val2113=)
16g.89280074C>TCA497373200ANKRD11c.6468G>A (p.Val2156=)
c.*6271G>A (n.*6271G>A)
c.745-4883G>A (n.745-4883G>A)
c.152-4883G>A
c.6366G>A (p.Val2122=)
c.6171G>A (p.Val2057=)
c.6339G>A (p.Val2113=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280075A>CCA397151097ANKRD11c.6467T>G (p.Val2156Gly)
c.*6270T>G (n.*6270T>G)
c.745-4884T>G (n.745-4884T>G)
c.152-4884T>G
c.6365T>G (p.Val2122Gly)
c.6170T>G (p.Val2057Gly)
c.6338T>G (p.Val2113Gly)
16g.89280075A>GCA397151098ANKRD11c.6467T>C (p.Val2156Ala)
c.*6270T>C (n.*6270T>C)
c.745-4884T>C (n.745-4884T>C)
c.152-4884T>C
c.6365T>C (p.Val2122Ala)
c.6170T>C (p.Val2057Ala)
c.6338T>C (p.Val2113Ala)
16g.89280075A>TCA397151096ANKRD11c.6467T>A (p.Val2156Glu)
c.*6270T>A (n.*6270T>A)
c.745-4884T>A (n.745-4884T>A)
c.152-4884T>A
c.6365T>A (p.Val2122Glu)
c.6170T>A (p.Val2057Glu)
c.6338T>A (p.Val2113Glu)
16g.89280076C>ACA397151099ANKRD11c.6466G>T (p.Val2156Leu)
c.*6269G>T (n.*6269G>T)
c.745-4885G>T (n.745-4885G>T)
c.152-4885G>T
c.6364G>T (p.Val2122Leu)
c.6169G>T (p.Val2057Leu)
c.6337G>T (p.Val2113Leu)
 gnomAD v4
16g.89280076C=CA2241587155ANKRD11c.6466G= (p.Val2156=)
c.*6269G= (n.*6269G=)
c.745-4885G= (n.745-4885G=)
c.152-4885G=
c.6364G= (p.Val2122=)
c.6169G= (p.Val2057=)
c.6337G= (p.Val2113=)
16g.89280076C>GCA397151100ANKRD11c.6466G>C (p.Val2156Leu)
c.*6269G>C (n.*6269G>C)
c.745-4885G>C (n.745-4885G>C)
c.152-4885G>C
c.6364G>C (p.Val2122Leu)
c.6169G>C (p.Val2057Leu)
c.6337G>C (p.Val2113Leu)
16g.89280076C>TCA8241435ANKRD11c.6466G>A (p.Val2156Met)
c.*6269G>A (n.*6269G>A)
c.745-4885G>A (n.745-4885G>A)
c.152-4885G>A
c.6364G>A (p.Val2122Met)
c.6169G>A (p.Val2057Met)
c.6337G>A (p.Val2113Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280077G>ACA497373204ANKRD11c.6465C>T (p.Pro2155=)
c.*6268C>T (n.*6268C>T)
c.745-4886C>T (n.745-4886C>T)
c.152-4886C>T
c.6363C>T (p.Pro2121=)
c.6168C>T (p.Pro2056=)
c.6336C>T (p.Pro2112=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280077G>CCA497373205ANKRD11c.6465C>G (p.Pro2155=)
c.*6268C>G (n.*6268C>G)
c.745-4886C>G (n.745-4886C>G)
c.152-4886C>G
c.6363C>G (p.Pro2121=)
c.6168C>G (p.Pro2056=)
c.6336C>G (p.Pro2112=)
16g.89280077G=CA2241587156ANKRD11c.6465C= (p.Pro2155=)
c.*6268C= (n.*6268C=)
c.745-4886C= (n.745-4886C=)
c.152-4886C=
c.6363C= (p.Pro2121=)
c.6168C= (p.Pro2056=)
c.6336C= (p.Pro2112=)
16g.89280077G>TCA497373206ANKRD11c.6465C>A (p.Pro2155=)
c.*6268C>A (n.*6268C>A)
c.745-4886C>A (n.745-4886C>A)
c.152-4886C>A
c.6363C>A (p.Pro2121=)
c.6168C>A (p.Pro2056=)
c.6336C>A (p.Pro2112=)
 gnomAD v4
16g.89280079delCA2580092390ANKRD11c.6465del (p.Val2156TrpfsTer19)
c.*6268del (n.*6268del)
c.745-4886del (n.745-4886del)
c.152-4886del
c.6363del (p.Val2122TrpfsTer19)
c.6168del (p.Val2057TrpfsTer19)
c.6336del (p.Val2113TrpfsTer19)
 ClinVar
16g.89280078G>ACA397151101ANKRD11c.6464C>T (p.Pro2155Leu)
c.*6267C>T (n.*6267C>T)
c.745-4887C>T (n.745-4887C>T)
c.152-4887C>T
c.6362C>T (p.Pro2121Leu)
c.6167C>T (p.Pro2056Leu)
c.6335C>T (p.Pro2112Leu)
16g.89280078G>CCA397151102ANKRD11c.6464C>G (p.Pro2155Arg)
c.*6267C>G (n.*6267C>G)
c.745-4887C>G (n.745-4887C>G)
c.152-4887C>G
c.6362C>G (p.Pro2121Arg)
c.6167C>G (p.Pro2056Arg)
c.6335C>G (p.Pro2112Arg)
16g.89280078G>TCA397151103ANKRD11c.6464C>A (p.Pro2155His)
c.*6267C>A (n.*6267C>A)
c.745-4887C>A (n.745-4887C>A)
c.152-4887C>A
c.6362C>A (p.Pro2121His)
c.6167C>A (p.Pro2056His)
c.6335C>A (p.Pro2112His)
16g.89280079G>ACA397151105ANKRD11c.6463C>T (p.Pro2155Ser)
c.*6266C>T (n.*6266C>T)
c.745-4888C>T (n.745-4888C>T)
c.152-4888C>T
c.6361C>T (p.Pro2121Ser)
c.6166C>T (p.Pro2056Ser)
c.6334C>T (p.Pro2112Ser)
16g.89280079G>CCA8241436ANKRD11c.6463C>G (p.Pro2155Ala)
c.*6266C>G (n.*6266C>G)
c.745-4888C>G (n.745-4888C>G)
c.152-4888C>G
c.6361C>G (p.Pro2121Ala)
c.6166C>G (p.Pro2056Ala)
c.6334C>G (p.Pro2112Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280079G=CA2241587157ANKRD11c.6463C= (p.Pro2155=)
c.*6266C= (n.*6266C=)
c.745-4888C= (n.745-4888C=)
c.152-4888C=
c.6361C= (p.Pro2121=)
c.6166C= (p.Pro2056=)
c.6334C= (p.Pro2112=)
16g.89280079G>TCA397151104ANKRD11c.6463C>A (p.Pro2155Thr)
c.*6266C>A (n.*6266C>A)
c.745-4888C>A (n.745-4888C>A)
c.152-4888C>A
c.6361C>A (p.Pro2121Thr)
c.6166C>A (p.Pro2056Thr)
c.6334C>A (p.Pro2112Thr)
 gnomAD v4
16g.89280080T>ACA397151106ANKRD11c.6462A>T (p.Glu2154Asp)
c.*6265A>T (n.*6265A>T)
c.745-4889A>T (n.745-4889A>T)
c.152-4889A>T
c.6360A>T (p.Glu2120Asp)
c.6165A>T (p.Glu2055Asp)
c.6333A>T (p.Glu2111Asp)
 dbSNP
16g.89280080T>CCA497373208ANKRD11c.6462A>G (p.Glu2154=)
c.*6265A>G (n.*6265A>G)
c.745-4889A>G (n.745-4889A>G)
c.152-4889A>G
c.6360A>G (p.Glu2120=)
c.6165A>G (p.Glu2055=)
c.6333A>G (p.Glu2111=)
 gnomAD v3 gnomAD v4
16g.89280080T>GCA397151107ANKRD11c.6462A>C (p.Glu2154Asp)
c.*6265A>C (n.*6265A>C)
c.745-4889A>C (n.745-4889A>C)
c.152-4889A>C
c.6360A>C (p.Glu2120Asp)
c.6165A>C (p.Glu2055Asp)
c.6333A>C (p.Glu2111Asp)
16g.89280081T>ACA397151108ANKRD11c.6461A>T (p.Glu2154Val)
c.*6264A>T (n.*6264A>T)
c.745-4890A>T (n.745-4890A>T)
c.152-4890A>T
c.6359A>T (p.Glu2120Val)
c.6164A>T (p.Glu2055Val)
c.6332A>T (p.Glu2111Val)
16g.89280081T>CCA397151109ANKRD11c.6461A>G (p.Glu2154Gly)
c.*6264A>G (n.*6264A>G)
c.745-4890A>G (n.745-4890A>G)
c.152-4890A>G
c.6359A>G (p.Glu2120Gly)
c.6164A>G (p.Glu2055Gly)
c.6332A>G (p.Glu2111Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280081T>GCA8241437ANKRD11c.6461A>C (p.Glu2154Ala)
c.*6264A>C (n.*6264A>C)
c.745-4890A>C (n.745-4890A>C)
c.152-4890A>C
c.6359A>C (p.Glu2120Ala)
c.6164A>C (p.Glu2055Ala)
c.6332A>C (p.Glu2111Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280081T=CA2241587158ANKRD11c.6461A= (p.Glu2154=)
c.*6264A= (n.*6264A=)
c.745-4890A= (n.745-4890A=)
c.152-4890A=
c.6359A= (p.Glu2120=)
c.6164A= (p.Glu2055=)
c.6332A= (p.Glu2111=)
16g.89280082C>ACA397151112ANKRD11c.6460G>T (p.Glu2154Ter)
c.*6263G>T (n.*6263G>T)
c.745-4891G>T (n.745-4891G>T)
c.152-4891G>T
c.6358G>T (p.Glu2120Ter)
c.6163G>T (p.Glu2055Ter)
c.6331G>T (p.Glu2111Ter)
16g.89280082C>GCA397151111ANKRD11c.6460G>C (p.Glu2154Gln)
c.*6263G>C (n.*6263G>C)
c.745-4891G>C (n.745-4891G>C)
c.152-4891G>C
c.6358G>C (p.Glu2120Gln)
c.6163G>C (p.Glu2055Gln)
c.6331G>C (p.Glu2111Gln)
16g.89280082C>TCA397151110ANKRD11c.6460G>A (p.Glu2154Lys)
c.*6263G>A (n.*6263G>A)
c.745-4891G>A (n.745-4891G>A)
c.152-4891G>A
c.6358G>A (p.Glu2120Lys)
c.6163G>A (p.Glu2055Lys)
c.6331G>A (p.Glu2111Lys)
16g.89280083C>ACA497373212ANKRD11c.6459G>T (p.Ala2153=)
c.*6262G>T (n.*6262G>T)
c.745-4892G>T (n.745-4892G>T)
c.152-4892G>T
c.6357G>T (p.Ala2119=)
c.6162G>T (p.Ala2054=)
c.6330G>T (p.Ala2110=)
16g.89280083C=CA2241587159ANKRD11c.6459G= (p.Ala2153=)
c.*6262G= (n.*6262G=)
c.745-4892G= (n.745-4892G=)
c.152-4892G=
c.6357G= (p.Ala2119=)
c.6162G= (p.Ala2054=)
c.6330G= (p.Ala2110=)
16g.89280083C>GCA497373213ANKRD11c.6459G>C (p.Ala2153=)
c.*6262G>C (n.*6262G>C)
c.745-4892G>C (n.745-4892G>C)
c.152-4892G>C
c.6357G>C (p.Ala2119=)
c.6162G>C (p.Ala2054=)
c.6330G>C (p.Ala2110=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280083C>TCA8241438ANKRD11c.6459G>A (p.Ala2153=)
c.*6262G>A (n.*6262G>A)
c.745-4892G>A (n.745-4892G>A)
c.152-4892G>A
c.6357G>A (p.Ala2119=)
c.6162G>A (p.Ala2054=)
c.6330G>A (p.Ala2110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280084G>ACA8241439ANKRD11c.6458C>T (p.Ala2153Val)
c.*6261C>T (n.*6261C>T)
c.745-4893C>T (n.745-4893C>T)
c.152-4893C>T
c.6356C>T (p.Ala2119Val)
c.6161C>T (p.Ala2054Val)
c.6329C>T (p.Ala2110Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280084G>CCA397151113ANKRD11c.6458C>G (p.Ala2153Gly)
c.*6261C>G (n.*6261C>G)
c.745-4893C>G (n.745-4893C>G)
c.152-4893C>G
c.6356C>G (p.Ala2119Gly)
c.6161C>G (p.Ala2054Gly)
c.6329C>G (p.Ala2110Gly)
16g.89280084G=CA2241587160ANKRD11c.6458C= (p.Ala2153=)
c.*6261C= (n.*6261C=)
c.745-4893C= (n.745-4893C=)
c.152-4893C=
c.6356C= (p.Ala2119=)
c.6161C= (p.Ala2054=)
c.6329C= (p.Ala2110=)
16g.89280084G>TCA397151114ANKRD11c.6458C>A (p.Ala2153Glu)
c.*6261C>A (n.*6261C>A)
c.745-4893C>A (n.745-4893C>A)
c.152-4893C>A
c.6356C>A (p.Ala2119Glu)
c.6161C>A (p.Ala2054Glu)
c.6329C>A (p.Ala2110Glu)
16g.89280085C>ACA397151115ANKRD11c.6457G>T (p.Ala2153Ser)
c.*6260G>T (n.*6260G>T)
c.745-4894G>T (n.745-4894G>T)
c.152-4894G>T
c.6355G>T (p.Ala2119Ser)
c.6160G>T (p.Ala2054Ser)
c.6328G>T (p.Ala2110Ser)
16g.89280085C=CA2241587161ANKRD11c.6457G= (p.Ala2153=)
c.*6260G= (n.*6260G=)
c.745-4894G= (n.745-4894G=)
c.152-4894G=
c.6355G= (p.Ala2119=)
c.6160G= (p.Ala2054=)
c.6328G= (p.Ala2110=)
16g.89280085C>GCA397151116ANKRD11c.6457G>C (p.Ala2153Pro)
c.*6260G>C (n.*6260G>C)
c.745-4894G>C (n.745-4894G>C)
c.152-4894G>C
c.6355G>C (p.Ala2119Pro)
c.6160G>C (p.Ala2054Pro)
c.6328G>C (p.Ala2110Pro)
16g.89280085C>TCA397151117ANKRD11c.6457G>A (p.Ala2153Thr)
c.*6260G>A (n.*6260G>A)
c.745-4894G>A (n.745-4894G>A)
c.152-4894G>A
c.6355G>A (p.Ala2119Thr)
c.6160G>A (p.Ala2054Thr)
c.6328G>A (p.Ala2110Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280086T>ACA397151118ANKRD11c.6456A>T (p.Glu2152Asp)
c.*6259A>T (n.*6259A>T)
c.745-4895A>T (n.745-4895A>T)
c.152-4895A>T
c.6354A>T (p.Glu2118Asp)
c.6159A>T (p.Glu2053Asp)
c.6327A>T (p.Glu2109Asp)
16g.89280086T>CCA8241440ANKRD11c.6456A>G (p.Glu2152=)
c.*6259A>G (n.*6259A>G)
c.745-4895A>G (n.745-4895A>G)
c.152-4895A>G
c.6354A>G (p.Glu2118=)
c.6159A>G (p.Glu2053=)
c.6327A>G (p.Glu2109=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280086T>GCA397151119ANKRD11c.6456A>C (p.Glu2152Asp)
c.*6259A>C (n.*6259A>C)
c.745-4895A>C (n.745-4895A>C)
c.152-4895A>C
c.6354A>C (p.Glu2118Asp)
c.6159A>C (p.Glu2053Asp)
c.6327A>C (p.Glu2109Asp)
16g.89280086T=CA2241587162ANKRD11c.6456A= (p.Glu2152=)
c.*6259A= (n.*6259A=)
c.745-4895A= (n.745-4895A=)
c.152-4895A=
c.6354A= (p.Glu2118=)
c.6159A= (p.Glu2053=)
c.6327A= (p.Glu2109=)
16g.89280087T>ACA397151120ANKRD11c.6455A>T (p.Glu2152Val)
c.*6258A>T (n.*6258A>T)
c.745-4896A>T (n.745-4896A>T)
c.152-4896A>T
c.6353A>T (p.Glu2118Val)
c.6158A>T (p.Glu2053Val)
c.6326A>T (p.Glu2109Val)
16g.89280087T>CCA397151121ANKRD11c.6455A>G (p.Glu2152Gly)
c.*6258A>G (n.*6258A>G)
c.745-4896A>G (n.745-4896A>G)
c.152-4896A>G
c.6353A>G (p.Glu2118Gly)
c.6158A>G (p.Glu2053Gly)
c.6326A>G (p.Glu2109Gly)
16g.89280087T>GCA397151122ANKRD11c.6455A>C (p.Glu2152Ala)
c.*6258A>C (n.*6258A>C)
c.745-4896A>C (n.745-4896A>C)
c.152-4896A>C
c.6353A>C (p.Glu2118Ala)
c.6158A>C (p.Glu2053Ala)
c.6326A>C (p.Glu2109Ala)
16g.89280088C>ACA397151123ANKRD11c.6454G>T (p.Glu2152Ter)
c.*6257G>T (n.*6257G>T)
c.745-4897G>T (n.745-4897G>T)
c.152-4897G>T
c.6352G>T (p.Glu2118Ter)
c.6157G>T (p.Glu2053Ter)
c.6325G>T (p.Glu2109Ter)
16g.89280088C=CA2241587163ANKRD11c.6454G= (p.Glu2152=)
c.*6257G= (n.*6257G=)
c.745-4897G= (n.745-4897G=)
c.152-4897G=
c.6352G= (p.Glu2118=)
c.6157G= (p.Glu2053=)
c.6325G= (p.Glu2109=)
16g.89280088C>GCA397151124ANKRD11c.6454G>C (p.Glu2152Gln)
c.*6257G>C (n.*6257G>C)
c.745-4897G>C (n.745-4897G>C)
c.152-4897G>C
c.6352G>C (p.Glu2118Gln)
c.6157G>C (p.Glu2053Gln)
c.6325G>C (p.Glu2109Gln)
16g.89280088C>TCA8241441ANKRD11c.6454G>A (p.Glu2152Lys)
c.*6257G>A (n.*6257G>A)
c.745-4897G>A (n.745-4897G>A)
c.152-4897G>A
c.6352G>A (p.Glu2118Lys)
c.6157G>A (p.Glu2053Lys)
c.6325G>A (p.Glu2109Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280090_89280092delCA2634942286ANKRD11c.6452_6454del (p.Gly2151del)
c.*6255_*6257del (n.*6255_*6257del)
c.745-4899_745-4897del (n.745-4899_745-4897del)
c.152-4899_152-4897del
c.6350_6352del (p.Gly2117del)
c.6155_6157del (p.Gly2052del)
c.6323_6325del (p.Gly2108del)
 gnomAD v4
16g.89280089A>CCA497373218ANKRD11c.6453T>G (p.Gly2151=)
c.*6256T>G (n.*6256T>G)
c.745-4898T>G (n.745-4898T>G)
c.152-4898T>G
c.6351T>G (p.Gly2117=)
c.6156T>G (p.Gly2052=)
c.6324T>G (p.Gly2108=)
16g.89280089A>GCA497373219ANKRD11c.6453T>C (p.Gly2151=)
c.*6256T>C (n.*6256T>C)
c.745-4898T>C (n.745-4898T>C)
c.152-4898T>C
c.6351T>C (p.Gly2117=)
c.6156T>C (p.Gly2052=)
c.6324T>C (p.Gly2108=)
 gnomAD v4
16g.89280089A>TCA497373220ANKRD11c.6453T>A (p.Gly2151=)
c.*6256T>A (n.*6256T>A)
c.745-4898T>A (n.745-4898T>A)
c.152-4898T>A
c.6351T>A (p.Gly2117=)
c.6156T>A (p.Gly2052=)
c.6324T>A (p.Gly2108=)
16g.89280090C>ACA397151125ANKRD11c.6452G>T (p.Gly2151Val)
c.*6255G>T (n.*6255G>T)
c.745-4899G>T (n.745-4899G>T)
c.152-4899G>T
c.6350G>T (p.Gly2117Val)
c.6155G>T (p.Gly2052Val)
c.6323G>T (p.Gly2108Val)
 dbSNP
16g.89280090C=CA2241587164ANKRD11c.6452G= (p.Gly2151=)
c.*6255G= (n.*6255G=)
c.745-4899G= (n.745-4899G=)
c.152-4899G=
c.6350G= (p.Gly2117=)
c.6155G= (p.Gly2052=)
c.6323G= (p.Gly2108=)
16g.89280090C>GCA8241442ANKRD11c.6452G>C (p.Gly2151Ala)
c.*6255G>C (n.*6255G>C)
c.745-4899G>C (n.745-4899G>C)
c.152-4899G>C
c.6350G>C (p.Gly2117Ala)
c.6155G>C (p.Gly2052Ala)
c.6323G>C (p.Gly2108Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280090C>TCA286510200ANKRD11c.6452G>A (p.Gly2151Asp)
c.*6255G>A (n.*6255G>A)
c.745-4899G>A (n.745-4899G>A)
c.152-4899G>A
c.6350G>A (p.Gly2117Asp)
c.6155G>A (p.Gly2052Asp)
c.6323G>A (p.Gly2108Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280091C>ACA397151126ANKRD11c.6451G>T (p.Gly2151Cys)
c.*6254G>T (n.*6254G>T)
c.745-4900G>T (n.745-4900G>T)
c.152-4900G>T
c.6349G>T (p.Gly2117Cys)
c.6154G>T (p.Gly2052Cys)
c.6322G>T (p.Gly2108Cys)
 gnomAD v4
16g.89280091C=CA2241587165ANKRD11c.6451G= (p.Gly2151=)
c.*6254G= (n.*6254G=)
c.745-4900G= (n.745-4900G=)
c.152-4900G=
c.6349G= (p.Gly2117=)
c.6154G= (p.Gly2052=)
c.6322G= (p.Gly2108=)
16g.89280091C>GCA8241443ANKRD11c.6451G>C (p.Gly2151Arg)
c.*6254G>C (n.*6254G>C)
c.745-4900G>C (n.745-4900G>C)
c.152-4900G>C
c.6349G>C (p.Gly2117Arg)
c.6154G>C (p.Gly2052Arg)
c.6322G>C (p.Gly2108Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280091C>TCA397151128ANKRD11c.6451G>A (p.Gly2151Ser)
c.*6254G>A (n.*6254G>A)
c.745-4900G>A (n.745-4900G>A)
c.152-4900G>A
c.6349G>A (p.Gly2117Ser)
c.6154G>A (p.Gly2052Ser)
c.6322G>A (p.Gly2108Ser)
16g.89280092A=CA2241587166ANKRD11c.6450T= (p.Asp2150=)
c.*6253T= (n.*6253T=)
c.745-4901T= (n.745-4901T=)
c.152-4901T=
c.6348T= (p.Asp2116=)
c.6153T= (p.Asp2051=)
c.6321T= (p.Asp2107=)
16g.89280092A>CCA397151129ANKRD11c.6450T>G (p.Asp2150Glu)
c.*6253T>G (n.*6253T>G)
c.745-4901T>G (n.745-4901T>G)
c.152-4901T>G
c.6348T>G (p.Asp2116Glu)
c.6153T>G (p.Asp2051Glu)
c.6321T>G (p.Asp2107Glu)
16g.89280092A>GCA8241444ANKRD11c.6450T>C (p.Asp2150=)
c.*6253T>C (n.*6253T>C)
c.745-4901T>C (n.745-4901T>C)
c.152-4901T>C
c.6348T>C (p.Asp2116=)
c.6153T>C (p.Asp2051=)
c.6321T>C (p.Asp2107=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280092A>TCA397151130ANKRD11c.6450T>A (p.Asp2150Glu)
c.*6253T>A (n.*6253T>A)
c.745-4901T>A (n.745-4901T>A)
c.152-4901T>A
c.6348T>A (p.Asp2116Glu)
c.6153T>A (p.Asp2051Glu)
c.6321T>A (p.Asp2107Glu)
16g.89280093T>ACA397151131ANKRD11c.6449A>T (p.Asp2150Val)
c.*6252A>T (n.*6252A>T)
c.745-4902A>T (n.745-4902A>T)
c.152-4902A>T
c.6347A>T (p.Asp2116Val)
c.6152A>T (p.Asp2051Val)
c.6320A>T (p.Asp2107Val)
16g.89280093T>CCA397151132ANKRD11c.6449A>G (p.Asp2150Gly)
c.*6252A>G (n.*6252A>G)
c.745-4902A>G (n.745-4902A>G)
c.152-4902A>G
c.6347A>G (p.Asp2116Gly)
c.6152A>G (p.Asp2051Gly)
c.6320A>G (p.Asp2107Gly)
16g.89280093T>GCA397151133ANKRD11c.6449A>C (p.Asp2150Ala)
c.*6252A>C (n.*6252A>C)
c.745-4902A>C (n.745-4902A>C)
c.152-4902A>C
c.6347A>C (p.Asp2116Ala)
c.6152A>C (p.Asp2051Ala)
c.6320A>C (p.Asp2107Ala)
16g.89280094C>ACA397151134ANKRD11c.6448G>T (p.Asp2150Tyr)
c.*6251G>T (n.*6251G>T)
c.745-4903G>T (n.745-4903G>T)
c.152-4903G>T
c.6346G>T (p.Asp2116Tyr)
c.6151G>T (p.Asp2051Tyr)
c.6319G>T (p.Asp2107Tyr)
16g.89280094C=CA2241587167ANKRD11c.6448G= (p.Asp2150=)
c.*6251G= (n.*6251G=)
c.745-4903G= (n.745-4903G=)
c.152-4903G=
c.6346G= (p.Asp2116=)
c.6151G= (p.Asp2051=)
c.6319G= (p.Asp2107=)
16g.89280094C>GCA397151135ANKRD11c.6448G>C (p.Asp2150His)
c.*6251G>C (n.*6251G>C)
c.745-4903G>C (n.745-4903G>C)
c.152-4903G>C
c.6346G>C (p.Asp2116His)
c.6151G>C (p.Asp2051His)
c.6319G>C (p.Asp2107His)
16g.89280094C>TCA397151136ANKRD11c.6448G>A (p.Asp2150Asn)
c.*6251G>A (n.*6251G>A)
c.745-4903G>A (n.745-4903G>A)
c.152-4903G>A
c.6346G>A (p.Asp2116Asn)
c.6151G>A (p.Asp2051Asn)
c.6319G>A (p.Asp2107Asn)
 ClinVar dbSNP gnomAD v4
16g.89280095T>ACA497373222ANKRD11c.6447A>T (p.Ala2149=)
c.*6250A>T (n.*6250A>T)
c.745-4904A>T (n.745-4904A>T)
c.152-4904A>T
c.6345A>T (p.Ala2115=)
c.6150A>T (p.Ala2050=)
c.6318A>T (p.Ala2106=)
16g.89280095T>CCA497373223ANKRD11c.6447A>G (p.Ala2149=)
c.*6250A>G (n.*6250A>G)
c.745-4904A>G (n.745-4904A>G)
c.152-4904A>G
c.6345A>G (p.Ala2115=)
c.6150A>G (p.Ala2050=)
c.6318A>G (p.Ala2106=)
16g.89280095T>GCA497373224ANKRD11c.6447A>C (p.Ala2149=)
c.*6250A>C (n.*6250A>C)
c.745-4904A>C (n.745-4904A>C)
c.152-4904A>C
c.6345A>C (p.Ala2115=)
c.6150A>C (p.Ala2050=)
c.6318A>C (p.Ala2106=)
16g.89280096G>ACA397151139ANKRD11c.6446C>T (p.Ala2149Val)
c.*6249C>T (n.*6249C>T)
c.745-4905C>T (n.745-4905C>T)
c.152-4905C>T
c.6344C>T (p.Ala2115Val)
c.6149C>T (p.Ala2050Val)
c.6317C>T (p.Ala2106Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89280096G>CCA397151138ANKRD11c.6446C>G (p.Ala2149Gly)
c.*6249C>G (n.*6249C>G)
c.745-4905C>G (n.745-4905C>G)
c.152-4905C>G
c.6344C>G (p.Ala2115Gly)
c.6149C>G (p.Ala2050Gly)
c.6317C>G (p.Ala2106Gly)
16g.89280096G=CA2241587168ANKRD11c.6446C= (p.Ala2149=)
c.*6249C= (n.*6249C=)
c.745-4905C= (n.745-4905C=)
c.152-4905C=
c.6344C= (p.Ala2115=)
c.6149C= (p.Ala2050=)
c.6317C= (p.Ala2106=)
16g.89280096G>TCA397151137ANKRD11c.6446C>A (p.Ala2149Glu)
c.*6249C>A (n.*6249C>A)
c.745-4905C>A (n.745-4905C>A)
c.152-4905C>A
c.6344C>A (p.Ala2115Glu)
c.6149C>A (p.Ala2050Glu)
c.6317C>A (p.Ala2106Glu)
16g.89280097C>ACA397151141ANKRD11c.6445G>T (p.Ala2149Ser)
c.*6248G>T (n.*6248G>T)
c.745-4906G>T (n.745-4906G>T)
c.152-4906G>T
c.6343G>T (p.Ala2115Ser)
c.6148G>T (p.Ala2050Ser)
c.6316G>T (p.Ala2106Ser)
16g.89280097C=CA2241587169ANKRD11c.6445G= (p.Ala2149=)
c.*6248G= (n.*6248G=)
c.745-4906G= (n.745-4906G=)
c.152-4906G=
c.6343G= (p.Ala2115=)
c.6148G= (p.Ala2050=)
c.6316G= (p.Ala2106=)
16g.89280097C>GCA397151140ANKRD11c.6445G>C (p.Ala2149Pro)
c.*6248G>C (n.*6248G>C)
c.745-4906G>C (n.745-4906G>C)
c.152-4906G>C
c.6343G>C (p.Ala2115Pro)
c.6148G>C (p.Ala2050Pro)
c.6316G>C (p.Ala2106Pro)
16g.89280097C>TCA286510210ANKRD11c.6445G>A (p.Ala2149Thr)
c.*6248G>A (n.*6248G>A)
c.745-4906G>A (n.745-4906G>A)
c.152-4906G>A
c.6343G>A (p.Ala2115Thr)
c.6148G>A (p.Ala2050Thr)
c.6316G>A (p.Ala2106Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89280098G>ACA8241446ANKRD11c.6444C>T (p.Ala2148=)
c.*6247C>T (n.*6247C>T)
c.745-4907C>T (n.745-4907C>T)
c.152-4907C>T
c.6342C>T (p.Ala2114=)
c.6147C>T (p.Ala2049=)
c.6315C>T (p.Ala2105=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280098G>CCA497373226ANKRD11c.6444C>G (p.Ala2148=)
c.*6247C>G (n.*6247C>G)
c.745-4907C>G (n.745-4907C>G)
c.152-4907C>G
c.6342C>G (p.Ala2114=)
c.6147C>G (p.Ala2049=)
c.6315C>G (p.Ala2105=)
16g.89280098G=CA2241587170ANKRD11c.6444C= (p.Ala2148=)
c.*6247C= (n.*6247C=)
c.745-4907C= (n.745-4907C=)
c.152-4907C=
c.6342C= (p.Ala2114=)
c.6147C= (p.Ala2049=)
c.6315C= (p.Ala2105=)
16g.89280098G>TCA8241445ANKRD11c.6444C>A (p.Ala2148=)
c.*6247C>A (n.*6247C>A)
c.745-4907C>A (n.745-4907C>A)
c.152-4907C>A
c.6342C>A (p.Ala2114=)
c.6147C>A (p.Ala2049=)
c.6315C>A (p.Ala2105=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280099G>ACA8241447ANKRD11c.6443C>T (p.Ala2148Val)
c.*6246C>T (n.*6246C>T)
c.745-4908C>T (n.745-4908C>T)
c.152-4908C>T
c.6341C>T (p.Ala2114Val)
c.6146C>T (p.Ala2049Val)
c.6314C>T (p.Ala2105Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280099G>CCA397151142ANKRD11c.6443C>G (p.Ala2148Gly)
c.*6246C>G (n.*6246C>G)
c.745-4908C>G (n.745-4908C>G)
c.152-4908C>G
c.6341C>G (p.Ala2114Gly)
c.6146C>G (p.Ala2049Gly)
c.6314C>G (p.Ala2105Gly)
16g.89280099G=CA2241587171ANKRD11c.6443C= (p.Ala2148=)
c.*6246C= (n.*6246C=)
c.745-4908C= (n.745-4908C=)
c.152-4908C=
c.6341C= (p.Ala2114=)
c.6146C= (p.Ala2049=)
c.6314C= (p.Ala2105=)
16g.89280099G>TCA397151143ANKRD11c.6443C>A (p.Ala2148Asp)
c.*6246C>A (n.*6246C>A)
c.745-4908C>A (n.745-4908C>A)
c.152-4908C>A
c.6341C>A (p.Ala2114Asp)
c.6146C>A (p.Ala2049Asp)
c.6314C>A (p.Ala2105Asp)
 ClinVar
16g.89280100C>ACA397151144ANKRD11c.6442G>T (p.Ala2148Ser)
c.*6245G>T (n.*6245G>T)
c.745-4909G>T (n.745-4909G>T)
c.152-4909G>T
c.6340G>T (p.Ala2114Ser)
c.6145G>T (p.Ala2049Ser)
c.6313G>T (p.Ala2105Ser)
 dbSNP gnomAD v4
16g.89280100C>GCA397151145ANKRD11c.6442G>C (p.Ala2148Pro)
c.*6245G>C (n.*6245G>C)
c.745-4909G>C (n.745-4909G>C)
c.152-4909G>C
c.6340G>C (p.Ala2114Pro)
c.6145G>C (p.Ala2049Pro)
c.6313G>C (p.Ala2105Pro)
16g.89280100C>TCA397151146ANKRD11c.6442G>A (p.Ala2148Thr)
c.*6245G>A (n.*6245G>A)
c.745-4909G>A (n.745-4909G>A)
c.152-4909G>A
c.6340G>A (p.Ala2114Thr)
c.6145G>A (p.Ala2049Thr)
c.6313G>A (p.Ala2105Thr)
16g.89280101_89280103delCA2634942292ANKRD11c.6440_6442del (p.Asp2147del)
c.*6243_*6245del (n.*6243_*6245del)
c.745-4911_745-4909del (n.745-4911_745-4909del)
c.152-4911_152-4909del
c.6338_6340del (p.Asp2113del)
c.6143_6145del (p.Asp2048del)
c.6311_6313del (p.Asp2104del)
 gnomAD v4
16g.89280101A>CCA397151147ANKRD11c.6441T>G (p.Asp2147Glu)
c.*6244T>G (n.*6244T>G)
c.745-4910T>G (n.745-4910T>G)
c.152-4910T>G
c.6339T>G (p.Asp2113Glu)
c.6144T>G (p.Asp2048Glu)
c.6312T>G (p.Asp2104Glu)
16g.89280101A>GCA497373229ANKRD11c.6441T>C (p.Asp2147=)
c.*6244T>C (n.*6244T>C)
c.745-4910T>C (n.745-4910T>C)
c.152-4910T>C
c.6339T>C (p.Asp2113=)
c.6144T>C (p.Asp2048=)
c.6312T>C (p.Asp2104=)
16g.89280101A>TCA397151148ANKRD11c.6441T>A (p.Asp2147Glu)
c.*6244T>A (n.*6244T>A)
c.745-4910T>A (n.745-4910T>A)
c.152-4910T>A
c.6339T>A (p.Asp2113Glu)
c.6144T>A (p.Asp2048Glu)
c.6312T>A (p.Asp2104Glu)
16g.89280102T>ACA397151150ANKRD11c.6440A>T (p.Asp2147Val)
c.*6243A>T (n.*6243A>T)
c.745-4911A>T (n.745-4911A>T)
c.152-4911A>T
c.6338A>T (p.Asp2113Val)
c.6143A>T (p.Asp2048Val)
c.6311A>T (p.Asp2104Val)
16g.89280102T>CCA8241448ANKRD11c.6440A>G (p.Asp2147Gly)
c.*6243A>G (n.*6243A>G)
c.745-4911A>G (n.745-4911A>G)
c.152-4911A>G
c.6338A>G (p.Asp2113Gly)
c.6143A>G (p.Asp2048Gly)
c.6311A>G (p.Asp2104Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280102T>GCA397151149ANKRD11c.6440A>C (p.Asp2147Ala)
c.*6243A>C (n.*6243A>C)
c.745-4911A>C (n.745-4911A>C)
c.152-4911A>C
c.6338A>C (p.Asp2113Ala)
c.6143A>C (p.Asp2048Ala)
c.6311A>C (p.Asp2104Ala)
16g.89280102T=CA2241587172ANKRD11c.6440A= (p.Asp2147=)
c.*6243A= (n.*6243A=)
c.745-4911A= (n.745-4911A=)
c.152-4911A=
c.6338A= (p.Asp2113=)
c.6143A= (p.Asp2048=)
c.6311A= (p.Asp2104=)
16g.89280103C>ACA397151151ANKRD11c.6439G>T (p.Asp2147Tyr)
c.*6242G>T (n.*6242G>T)
c.745-4912G>T (n.745-4912G>T)
c.152-4912G>T
c.6337G>T (p.Asp2113Tyr)
c.6142G>T (p.Asp2048Tyr)
c.6310G>T (p.Asp2104Tyr)
16g.89280103C=CA2241587173ANKRD11c.6439G= (p.Asp2147=)
c.*6242G= (n.*6242G=)
c.745-4912G= (n.745-4912G=)
c.152-4912G=
c.6337G= (p.Asp2113=)
c.6142G= (p.Asp2048=)
c.6310G= (p.Asp2104=)
16g.89280103C>GCA397151152ANKRD11c.6439G>C (p.Asp2147His)
c.*6242G>C (n.*6242G>C)
c.745-4912G>C (n.745-4912G>C)
c.152-4912G>C
c.6337G>C (p.Asp2113His)
c.6142G>C (p.Asp2048His)
c.6310G>C (p.Asp2104His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280103C>TCA397151153ANKRD11c.6439G>A (p.Asp2147Asn)
c.*6242G>A (n.*6242G>A)
c.745-4912G>A (n.745-4912G>A)
c.152-4912G>A
c.6337G>A (p.Asp2113Asn)
c.6142G>A (p.Asp2048Asn)
c.6310G>A (p.Asp2104Asn)
 ClinVar gnomAD v4
16g.89280104T>ACA397151154ANKRD11c.6438A>T (p.Lys2146Asn)
c.*6241A>T (n.*6241A>T)
c.745-4913A>T (n.745-4913A>T)
c.152-4913A>T
c.6336A>T (p.Lys2112Asn)
c.6141A>T (p.Lys2047Asn)
c.6309A>T (p.Lys2103Asn)
 ClinVar
16g.89280104T>CCA497373232ANKRD11c.6438A>G (p.Lys2146=)
c.*6241A>G (n.*6241A>G)
c.745-4913A>G (n.745-4913A>G)
c.152-4913A>G
c.6336A>G (p.Lys2112=)
c.6141A>G (p.Lys2047=)
c.6309A>G (p.Lys2103=)
16g.89280104T>GCA397151155ANKRD11c.6438A>C (p.Lys2146Asn)
c.*6241A>C (n.*6241A>C)
c.745-4913A>C (n.745-4913A>C)
c.152-4913A>C
c.6336A>C (p.Lys2112Asn)
c.6141A>C (p.Lys2047Asn)
c.6309A>C (p.Lys2103Asn)
 gnomAD v4
16g.89280105T>ACA397151157ANKRD11c.6437A>T (p.Lys2146Ile)
c.*6240A>T (n.*6240A>T)
c.745-4914A>T (n.745-4914A>T)
c.152-4914A>T
c.6335A>T (p.Lys2112Ile)
c.6140A>T (p.Lys2047Ile)
c.6308A>T (p.Lys2103Ile)
16g.89280105T>CCA397151156ANKRD11c.6437A>G (p.Lys2146Arg)
c.*6240A>G (n.*6240A>G)
c.745-4914A>G (n.745-4914A>G)
c.152-4914A>G
c.6335A>G (p.Lys2112Arg)
c.6140A>G (p.Lys2047Arg)
c.6308A>G (p.Lys2103Arg)
16g.89280105T>GCA286510235ANKRD11c.6437A>C (p.Lys2146Thr)
c.*6240A>C (n.*6240A>C)
c.745-4914A>C (n.745-4914A>C)
c.152-4914A>C
c.6335A>C (p.Lys2112Thr)
c.6140A>C (p.Lys2047Thr)
c.6308A>C (p.Lys2103Thr)
 dbSNP gnomAD v4
16g.89280105T=CA2241587174ANKRD11c.6437A= (p.Lys2146=)
c.*6240A= (n.*6240A=)
c.745-4914A= (n.745-4914A=)
c.152-4914A=
c.6335A= (p.Lys2112=)
c.6140A= (p.Lys2047=)
c.6308A= (p.Lys2103=)
16g.89280106T>ACA397151158ANKRD11c.6436A>T (p.Lys2146Ter)
c.*6239A>T (n.*6239A>T)
c.745-4915A>T (n.745-4915A>T)
c.152-4915A>T
c.6334A>T (p.Lys2112Ter)
c.6139A>T (p.Lys2047Ter)
c.6307A>T (p.Lys2103Ter)
16g.89280106T>CCA397151159ANKRD11c.6436A>G (p.Lys2146Glu)
c.*6239A>G (n.*6239A>G)
c.745-4915A>G (n.745-4915A>G)
c.152-4915A>G
c.6334A>G (p.Lys2112Glu)
c.6139A>G (p.Lys2047Glu)
c.6307A>G (p.Lys2103Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280106T>GCA397151160ANKRD11c.6436A>C (p.Lys2146Gln)
c.*6239A>C (n.*6239A>C)
c.745-4915A>C (n.745-4915A>C)
c.152-4915A>C
c.6334A>C (p.Lys2112Gln)
c.6139A>C (p.Lys2047Gln)
c.6307A>C (p.Lys2103Gln)
 ClinVar dbSNP
16g.89280106T=CA2241587175ANKRD11c.6436A= (p.Lys2146=)
c.*6239A= (n.*6239A=)
c.745-4915A= (n.745-4915A=)
c.152-4915A=
c.6334A= (p.Lys2112=)
c.6139A= (p.Lys2047=)
c.6307A= (p.Lys2103=)
16g.89280107A>CCA497373237ANKRD11c.6435T>G (p.Thr2145=)
c.*6238T>G (n.*6238T>G)
c.745-4916T>G (n.745-4916T>G)
c.152-4916T>G
c.6333T>G (p.Thr2111=)
c.6138T>G (p.Thr2046=)
c.6306T>G (p.Thr2102=)
16g.89280107A>GCA497373236ANKRD11c.6435T>C (p.Thr2145=)
c.*6238T>C (n.*6238T>C)
c.745-4916T>C (n.745-4916T>C)
c.152-4916T>C
c.6333T>C (p.Thr2111=)
c.6138T>C (p.Thr2046=)
c.6306T>C (p.Thr2102=)
16g.89280107A>TCA497373238ANKRD11c.6435T>A (p.Thr2145=)
c.*6238T>A (n.*6238T>A)
c.745-4916T>A (n.745-4916T>A)
c.152-4916T>A
c.6333T>A (p.Thr2111=)
c.6138T>A (p.Thr2046=)
c.6306T>A (p.Thr2102=)
16g.89280108G>ACA8241449ANKRD11c.6434C>T (p.Thr2145Ile)
c.*6237C>T (n.*6237C>T)
c.745-4917C>T (n.745-4917C>T)
c.152-4917C>T
c.6332C>T (p.Thr2111Ile)
c.6137C>T (p.Thr2046Ile)
c.6305C>T (p.Thr2102Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280108G>CCA397151161ANKRD11c.6434C>G (p.Thr2145Ser)
c.*6237C>G (n.*6237C>G)
c.745-4917C>G (n.745-4917C>G)
c.152-4917C>G
c.6332C>G (p.Thr2111Ser)
c.6137C>G (p.Thr2046Ser)
c.6305C>G (p.Thr2102Ser)
 gnomAD v4
16g.89280108G=CA2241587176ANKRD11c.6434C= (p.Thr2145=)
c.*6237C= (n.*6237C=)
c.745-4917C= (n.745-4917C=)
c.152-4917C=
c.6332C= (p.Thr2111=)
c.6137C= (p.Thr2046=)
c.6305C= (p.Thr2102=)
16g.89280108G>TCA397151162ANKRD11c.6434C>A (p.Thr2145Asn)
c.*6237C>A (n.*6237C>A)
c.745-4917C>A (n.745-4917C>A)
c.152-4917C>A
c.6332C>A (p.Thr2111Asn)
c.6137C>A (p.Thr2046Asn)
c.6305C>A (p.Thr2102Asn)
16g.89280109T>ACA397151164ANKRD11c.6433A>T (p.Thr2145Ser)
c.*6236A>T (n.*6236A>T)
c.745-4918A>T (n.745-4918A>T)
c.152-4918A>T
c.6331A>T (p.Thr2111Ser)
c.6136A>T (p.Thr2046Ser)
c.6304A>T (p.Thr2102Ser)
16g.89280109T>CCA397151165ANKRD11c.6433A>G (p.Thr2145Ala)
c.*6236A>G (n.*6236A>G)
c.745-4918A>G (n.745-4918A>G)
c.152-4918A>G
c.6331A>G (p.Thr2111Ala)
c.6136A>G (p.Thr2046Ala)
c.6304A>G (p.Thr2102Ala)
16g.89280109T>GCA397151163ANKRD11c.6433A>C (p.Thr2145Pro)
c.*6236A>C (n.*6236A>C)
c.745-4918A>C (n.745-4918A>C)
c.152-4918A>C
c.6331A>C (p.Thr2111Pro)
c.6136A>C (p.Thr2046Pro)
c.6304A>C (p.Thr2102Pro)
16g.89280110C>ACA397151166ANKRD11c.6432G>T (p.Gln2144His)
c.*6235G>T (n.*6235G>T)
c.745-4919G>T (n.745-4919G>T)
c.152-4919G>T
c.6330G>T (p.Gln2110His)
c.6135G>T (p.Gln2045His)
c.6303G>T (p.Gln2101His)
16g.89280110C=CA2241587177ANKRD11c.6432G= (p.Gln2144=)
c.*6235G= (n.*6235G=)
c.745-4919G= (n.745-4919G=)
c.152-4919G=
c.6330G= (p.Gln2110=)
c.6135G= (p.Gln2045=)
c.6303G= (p.Gln2101=)
16g.89280110C>GCA397151167ANKRD11c.6432G>C (p.Gln2144His)
c.*6235G>C (n.*6235G>C)
c.745-4919G>C (n.745-4919G>C)
c.152-4919G>C
c.6330G>C (p.Gln2110His)
c.6135G>C (p.Gln2045His)
c.6303G>C (p.Gln2101His)
 gnomAD v4
16g.89280110C>TCA497373240ANKRD11c.6432G>A (p.Gln2144=)
c.*6235G>A (n.*6235G>A)
c.745-4919G>A (n.745-4919G>A)
c.152-4919G>A
c.6330G>A (p.Gln2110=)
c.6135G>A (p.Gln2045=)
c.6303G>A (p.Gln2101=)
 dbSNP gnomAD v4
16g.89280111T>ACA397151168ANKRD11c.6431A>T (p.Gln2144Leu)
c.*6234A>T (n.*6234A>T)
c.745-4920A>T (n.745-4920A>T)
c.152-4920A>T
c.6329A>T (p.Gln2110Leu)
c.6134A>T (p.Gln2045Leu)
c.6302A>T (p.Gln2101Leu)
16g.89280111T>CCA8241450ANKRD11c.6431A>G (p.Gln2144Arg)
c.*6234A>G (n.*6234A>G)
c.745-4920A>G (n.745-4920A>G)
c.152-4920A>G
c.6329A>G (p.Gln2110Arg)
c.6134A>G (p.Gln2045Arg)
c.6302A>G (p.Gln2101Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280111T>GCA397151169ANKRD11c.6431A>C (p.Gln2144Pro)
c.*6234A>C (n.*6234A>C)
c.745-4920A>C (n.745-4920A>C)
c.152-4920A>C
c.6329A>C (p.Gln2110Pro)
c.6134A>C (p.Gln2045Pro)
c.6302A>C (p.Gln2101Pro)
16g.89280111T=CA2241587178ANKRD11c.6431A= (p.Gln2144=)
c.*6234A= (n.*6234A=)
c.745-4920A= (n.745-4920A=)
c.152-4920A=
c.6329A= (p.Gln2110=)
c.6134A= (p.Gln2045=)
c.6302A= (p.Gln2101=)
16g.89280112G>ACA397151170ANKRD11c.6430C>T (p.Gln2144Ter)
c.*6233C>T (n.*6233C>T)
c.745-4921C>T (n.745-4921C>T)
c.152-4921C>T
c.6328C>T (p.Gln2110Ter)
c.6133C>T (p.Gln2045Ter)
c.6301C>T (p.Gln2101Ter)
 ClinVar dbSNP
16g.89280112G>CCA397151171ANKRD11c.6430C>G (p.Gln2144Glu)
c.*6233C>G (n.*6233C>G)
c.745-4921C>G (n.745-4921C>G)
c.152-4921C>G
c.6328C>G (p.Gln2110Glu)
c.6133C>G (p.Gln2045Glu)
c.6301C>G (p.Gln2101Glu)
 gnomAD v4
16g.89280112G=CA2241587179ANKRD11c.6430C= (p.Gln2144=)
c.*6233C= (n.*6233C=)
c.745-4921C= (n.745-4921C=)
c.152-4921C=
c.6328C= (p.Gln2110=)
c.6133C= (p.Gln2045=)
c.6301C= (p.Gln2101=)
16g.89280112G>TCA397151172ANKRD11c.6430C>A (p.Gln2144Lys)
c.*6233C>A (n.*6233C>A)
c.745-4921C>A (n.745-4921C>A)
c.152-4921C>A
c.6328C>A (p.Gln2110Lys)
c.6133C>A (p.Gln2045Lys)
c.6301C>A (p.Gln2101Lys)
16g.89280113C>ACA497373243ANKRD11c.6429G>T (p.Leu2143=)
c.*6232G>T (n.*6232G>T)
c.745-4922G>T (n.745-4922G>T)
c.152-4922G>T
c.6327G>T (p.Leu2109=)
c.6132G>T (p.Leu2044=)
c.6300G>T (p.Leu2100=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280113C=CA2241587180ANKRD11c.6429G= (p.Leu2143=)
c.*6232G= (n.*6232G=)
c.745-4922G= (n.745-4922G=)
c.152-4922G=
c.6327G= (p.Leu2109=)
c.6132G= (p.Leu2044=)
c.6300G= (p.Leu2100=)
16g.89280113C>GCA497373244ANKRD11c.6429G>C (p.Leu2143=)
c.*6232G>C (n.*6232G>C)
c.745-4922G>C (n.745-4922G>C)
c.152-4922G>C
c.6327G>C (p.Leu2109=)
c.6132G>C (p.Leu2044=)
c.6300G>C (p.Leu2100=)
16g.89280113C>TCA497373245ANKRD11c.6429G>A (p.Leu2143=)
c.*6232G>A (n.*6232G>A)
c.745-4922G>A (n.745-4922G>A)
c.152-4922G>A
c.6327G>A (p.Leu2109=)
c.6132G>A (p.Leu2044=)
c.6300G>A (p.Leu2100=)
16g.89280114A>CCA397151173ANKRD11c.6428T>G (p.Leu2143Arg)
c.*6231T>G (n.*6231T>G)
c.745-4923T>G (n.745-4923T>G)
c.152-4923T>G
c.6326T>G (p.Leu2109Arg)
c.6131T>G (p.Leu2044Arg)
c.6299T>G (p.Leu2100Arg)
16g.89280114A>GCA397151174ANKRD11c.6428T>C (p.Leu2143Pro)
c.*6231T>C (n.*6231T>C)
c.745-4923T>C (n.745-4923T>C)
c.152-4923T>C
c.6326T>C (p.Leu2109Pro)
c.6131T>C (p.Leu2044Pro)
c.6299T>C (p.Leu2100Pro)
16g.89280114A>TCA397151175ANKRD11c.6428T>A (p.Leu2143Gln)
c.*6231T>A (n.*6231T>A)
c.745-4923T>A (n.745-4923T>A)
c.152-4923T>A
c.6326T>A (p.Leu2109Gln)
c.6131T>A (p.Leu2044Gln)
c.6299T>A (p.Leu2100Gln)
16g.89280115G>ACA286510243ANKRD11c.6427C>T (p.Leu2143=)
c.*6230C>T (n.*6230C>T)
c.745-4924C>T (n.745-4924C>T)
c.152-4924C>T
c.6325C>T (p.Leu2109=)
c.6130C>T (p.Leu2044=)
c.6298C>T (p.Leu2100=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280115G>CCA397151176ANKRD11c.6427C>G (p.Leu2143Val)
c.*6230C>G (n.*6230C>G)
c.745-4924C>G (n.745-4924C>G)
c.152-4924C>G
c.6325C>G (p.Leu2109Val)
c.6130C>G (p.Leu2044Val)
c.6298C>G (p.Leu2100Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280115G=CA2241587181ANKRD11c.6427C= (p.Leu2143=)
c.*6230C= (n.*6230C=)
c.745-4924C= (n.745-4924C=)
c.152-4924C=
c.6325C= (p.Leu2109=)
c.6130C= (p.Leu2044=)
c.6298C= (p.Leu2100=)
16g.89280115G>TCA397151177ANKRD11c.6427C>A (p.Leu2143Met)
c.*6230C>A (n.*6230C>A)
c.745-4924C>A (n.745-4924C>A)
c.152-4924C>A
c.6325C>A (p.Leu2109Met)
c.6130C>A (p.Leu2044Met)
c.6298C>A (p.Leu2100Met)
16g.89280116G>ACA8241451ANKRD11c.6426C>T (p.Pro2142=)
c.*6229C>T (n.*6229C>T)
c.745-4925C>T (n.745-4925C>T)
c.152-4925C>T
c.6324C>T (p.Pro2108=)
c.6129C>T (p.Pro2043=)
c.6297C>T (p.Pro2099=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89280116G>CCA497373247ANKRD11c.6426C>G (p.Pro2142=)
c.*6229C>G (n.*6229C>G)
c.745-4925C>G (n.745-4925C>G)
c.152-4925C>G
c.6324C>G (p.Pro2108=)
c.6129C>G (p.Pro2043=)
c.6297C>G (p.Pro2099=)
16g.89280116G=CA2241587182ANKRD11c.6426C= (p.Pro2142=)
c.*6229C= (n.*6229C=)
c.745-4925C= (n.745-4925C=)
c.152-4925C=
c.6324C= (p.Pro2108=)
c.6129C= (p.Pro2043=)
c.6297C= (p.Pro2099=)
16g.89280116G>TCA497373248ANKRD11c.6426C>A (p.Pro2142=)
c.*6229C>A (n.*6229C>A)
c.745-4925C>A (n.745-4925C>A)
c.152-4925C>A
c.6324C>A (p.Pro2108=)
c.6129C>A (p.Pro2043=)
c.6297C>A (p.Pro2099=)
16g.89280117G>ACA397151179ANKRD11c.6425C>T (p.Pro2142Leu)
c.*6228C>T (n.*6228C>T)
c.745-4926C>T (n.745-4926C>T)
c.152-4926C>T
c.6323C>T (p.Pro2108Leu)
c.6128C>T (p.Pro2043Leu)
c.6296C>T (p.Pro2099Leu)
 ClinVar gnomAD v4
16g.89280117G>CCA286510249ANKRD11c.6425C>G (p.Pro2142Arg)
c.*6228C>G (n.*6228C>G)
c.745-4926C>G (n.745-4926C>G)
c.152-4926C>G
c.6323C>G (p.Pro2108Arg)
c.6128C>G (p.Pro2043Arg)
c.6296C>G (p.Pro2099Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280117G=CA2241587183ANKRD11c.6425C= (p.Pro2142=)
c.*6228C= (n.*6228C=)
c.745-4926C= (n.745-4926C=)
c.152-4926C=
c.6323C= (p.Pro2108=)
c.6128C= (p.Pro2043=)
c.6296C= (p.Pro2099=)
16g.89280117G>TCA397151178ANKRD11c.6425C>A (p.Pro2142His)
c.*6228C>A (n.*6228C>A)
c.745-4926C>A (n.745-4926C>A)
c.152-4926C>A
c.6323C>A (p.Pro2108His)
c.6128C>A (p.Pro2043His)
c.6296C>A (p.Pro2099His)
 gnomAD v4
16g.89280118G>ACA8241452ANKRD11c.6424C>T (p.Pro2142Ser)
c.*6227C>T (n.*6227C>T)
c.745-4927C>T (n.745-4927C>T)
c.152-4927C>T
c.6322C>T (p.Pro2108Ser)
c.6127C>T (p.Pro2043Ser)
c.6295C>T (p.Pro2099Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89280118G>CCA397151180ANKRD11c.6424C>G (p.Pro2142Ala)
c.*6227C>G (n.*6227C>G)
c.745-4927C>G (n.745-4927C>G)
c.152-4927C>G
c.6322C>G (p.Pro2108Ala)
c.6127C>G (p.Pro2043Ala)
c.6295C>G (p.Pro2099Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.89280118G=CA2241587184ANKRD11c.6424C= (p.Pro2142=)
c.*6227C= (n.*6227C=)
c.745-4927C= (n.745-4927C=)
c.152-4927C=
c.6322C= (p.Pro2108=)
c.6127C= (p.Pro2043=)
c.6295C= (p.Pro2099=)
16g.89280118G>TCA397151181ANKRD11c.6424C>A (p.Pro2142Thr)
c.*6227C>A (n.*6227C>A)
c.745-4927C>A (n.745-4927C>A)
c.152-4927C>A
c.6322C>A (p.Pro2108Thr)
c.6127C>A (p.Pro2043Thr)
c.6295C>A (p.Pro2099Thr)
16g.89280119A>CCA497373252ANKRD11c.6423T>G (p.Leu2141=)
c.*6226T>G (n.*6226T>G)
c.745-4928T>G (n.745-4928T>G)
c.152-4928T>G
c.6321T>G (p.Leu2107=)
c.6126T>G (p.Leu2042=)
c.6294T>G (p.Leu2098=)
16g.89280119A>GCA497373253ANKRD11c.6423T>C (p.Leu2141=)
c.*6226T>C (n.*6226T>C)
c.745-4928T>C (n.745-4928T>C)
c.152-4928T>C
c.6321T>C (p.Leu2107=)
c.6126T>C (p.Leu2042=)
c.6294T>C (p.Leu2098=)
16g.89280119A>TCA497373254ANKRD11c.6423T>A (p.Leu2141=)
c.*6226T>A (n.*6226T>A)
c.745-4928T>A (n.745-4928T>A)
c.152-4928T>A
c.6321T>A (p.Leu2107=)
c.6126T>A (p.Leu2042=)
c.6294T>A (p.Leu2098=)
16g.89280120A>CCA397151182ANKRD11c.6422T>G (p.Leu2141Arg)
c.*6225T>G (n.*6225T>G)
c.745-4929T>G (n.745-4929T>G)
c.152-4929T>G
c.6320T>G (p.Leu2107Arg)
c.6125T>G (p.Leu2042Arg)
c.6293T>G (p.Leu2098Arg)
16g.89280120A>GCA397151183ANKRD11c.6422T>C (p.Leu2141Pro)
c.*6225T>C (n.*6225T>C)
c.745-4929T>C (n.745-4929T>C)
c.152-4929T>C
c.6320T>C (p.Leu2107Pro)
c.6125T>C (p.Leu2042Pro)
c.6293T>C (p.Leu2098Pro)
16g.89280120A>TCA397151184ANKRD11c.6422T>A (p.Leu2141His)
c.*6225T>A (n.*6225T>A)
c.745-4929T>A (n.745-4929T>A)
c.152-4929T>A
c.6320T>A (p.Leu2107His)
c.6125T>A (p.Leu2042His)
c.6293T>A (p.Leu2098His)
16g.89280120_89280141dupCA2695201158ANKRD11c.6401_6422dup (p.Pro2142AlafsTer12)
c.*6204_*6225dup (n.*6204_*6225dup)
c.745-4950_745-4929dup (n.745-4950_745-4929dup)
c.152-4950_152-4929dup
c.6299_6320dup (p.Pro2108AlafsTer12)
c.6104_6125dup (p.Pro2043AlafsTer12)
c.6272_6293dup (p.Pro2099AlafsTer12)
 ClinVar
16g.89280121G>ACA8241453ANKRD11c.6421C>T (p.Leu2141Phe)
c.*6224C>T (n.*6224C>T)
c.745-4930C>T (n.745-4930C>T)
c.152-4930C>T
c.6319C>T (p.Leu2107Phe)
c.6124C>T (p.Leu2042Phe)
c.6292C>T (p.Leu2098Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280121G>CCA397151185ANKRD11c.6421C>G (p.Leu2141Val)
c.*6224C>G (n.*6224C>G)
c.745-4930C>G (n.745-4930C>G)
c.152-4930C>G
c.6319C>G (p.Leu2107Val)
c.6124C>G (p.Leu2042Val)
c.6292C>G (p.Leu2098Val)
16g.89280121G=CA2241587185ANKRD11c.6421C= (p.Leu2141=)
c.*6224C= (n.*6224C=)
c.745-4930C= (n.745-4930C=)
c.152-4930C=
c.6319C= (p.Leu2107=)
c.6124C= (p.Leu2042=)
c.6292C= (p.Leu2098=)
16g.89280121G>TCA397151186ANKRD11c.6421C>A (p.Leu2141Ile)
c.*6224C>A (n.*6224C>A)
c.745-4930C>A (n.745-4930C>A)
c.152-4930C>A
c.6319C>A (p.Leu2107Ile)
c.6124C>A (p.Leu2042Ile)
c.6292C>A (p.Leu2098Ile)
 gnomAD v4
16g.89280122C>ACA397151187ANKRD11c.6420G>T (p.Glu2140Asp)
c.*6223G>T (n.*6223G>T)
c.745-4931G>T (n.745-4931G>T)
c.152-4931G>T
c.6318G>T (p.Glu2106Asp)
c.6123G>T (p.Glu2041Asp)
c.6291G>T (p.Glu2097Asp)
16g.89280122C>GCA397151188ANKRD11c.6420G>C (p.Glu2140Asp)
c.*6223G>C (n.*6223G>C)
c.745-4931G>C (n.745-4931G>C)
c.152-4931G>C
c.6318G>C (p.Glu2106Asp)
c.6123G>C (p.Glu2041Asp)
c.6291G>C (p.Glu2097Asp)
16g.89280122C>TCA497373256ANKRD11c.6420G>A (p.Glu2140=)
c.*6223G>A (n.*6223G>A)
c.745-4931G>A (n.745-4931G>A)
c.152-4931G>A
c.6318G>A (p.Glu2106=)
c.6123G>A (p.Glu2041=)
c.6291G>A (p.Glu2097=)
 gnomAD v4
16g.89280123T>ACA397151191ANKRD11c.6419A>T (p.Glu2140Val)
c.*6222A>T (n.*6222A>T)
c.745-4932A>T (n.745-4932A>T)
c.152-4932A>T
c.6317A>T (p.Glu2106Val)
c.6122A>T (p.Glu2041Val)
c.6290A>T (p.Glu2097Val)
16g.89280123T>CCA397151190ANKRD11c.6419A>G (p.Glu2140Gly)
c.*6222A>G (n.*6222A>G)
c.745-4932A>G (n.745-4932A>G)
c.152-4932A>G
c.6317A>G (p.Glu2106Gly)
c.6122A>G (p.Glu2041Gly)
c.6290A>G (p.Glu2097Gly)
16g.89280123T>GCA397151189ANKRD11c.6419A>C (p.Glu2140Ala)
c.*6222A>C (n.*6222A>C)
c.745-4932A>C (n.745-4932A>C)
c.152-4932A>C
c.6317A>C (p.Glu2106Ala)
c.6122A>C (p.Glu2041Ala)
c.6290A>C (p.Glu2097Ala)
16g.89280124C>ACA397151192ANKRD11c.6418G>T (p.Glu2140Ter)
c.*6221G>T (n.*6221G>T)
c.745-4933G>T (n.745-4933G>T)
c.152-4933G>T
c.6316G>T (p.Glu2106Ter)
c.6121G>T (p.Glu2041Ter)
c.6289G>T (p.Glu2097Ter)
16g.89280124C=CA2241587186ANKRD11c.6418G= (p.Glu2140=)
c.*6221G= (n.*6221G=)
c.745-4933G= (n.745-4933G=)
c.152-4933G=
c.6316G= (p.Glu2106=)
c.6121G= (p.Glu2041=)
c.6289G= (p.Glu2097=)
16g.89280124C>GCA8241454ANKRD11c.6418G>C (p.Glu2140Gln)
c.*6221G>C (n.*6221G>C)
c.745-4933G>C (n.745-4933G>C)
c.152-4933G>C
c.6316G>C (p.Glu2106Gln)
c.6121G>C (p.Glu2041Gln)
c.6289G>C (p.Glu2097Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280124C>TCA397151193ANKRD11c.6418G>A (p.Glu2140Lys)
c.*6221G>A (n.*6221G>A)
c.745-4933G>A (n.745-4933G>A)
c.152-4933G>A
c.6316G>A (p.Glu2106Lys)
c.6121G>A (p.Glu2041Lys)
c.6289G>A (p.Glu2097Lys)
16g.89280125C>ACA8241456ANKRD11c.6417G>T (p.Pro2139=)
c.*6220G>T (n.*6220G>T)
c.745-4934G>T (n.745-4934G>T)
c.152-4934G>T
c.6315G>T (p.Pro2105=)
c.6120G>T (p.Pro2040=)
c.6288G>T (p.Pro2096=)
 dbSNP ExAC gnomAD v2
16g.89280125C=CA2241587187ANKRD11c.6417G= (p.Pro2139=)
c.*6220G= (n.*6220G=)
c.745-4934G= (n.745-4934G=)
c.152-4934G=
c.6315G= (p.Pro2105=)
c.6120G= (p.Pro2040=)
c.6288G= (p.Pro2096=)
16g.89280125C>GCA497373288ANKRD11c.6417G>C (p.Pro2139=)
c.*6220G>C (n.*6220G>C)
c.745-4934G>C (n.745-4934G>C)
c.152-4934G>C
c.6315G>C (p.Pro2105=)
c.6120G>C (p.Pro2040=)
c.6288G>C (p.Pro2096=)
16g.89280125C>TCA8241455ANKRD11c.6417G>A (p.Pro2139=)
c.*6220G>A (n.*6220G>A)
c.745-4934G>A (n.745-4934G>A)
c.152-4934G>A
c.6315G>A (p.Pro2105=)
c.6120G>A (p.Pro2040=)
c.6288G>A (p.Pro2096=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280126G>ACA8241457ANKRD11c.6416C>T (p.Pro2139Leu)
c.*6219C>T (n.*6219C>T)
c.745-4935C>T (n.745-4935C>T)
c.152-4935C>T
c.6314C>T (p.Pro2105Leu)
c.6119C>T (p.Pro2040Leu)
c.6287C>T (p.Pro2096Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280126G>CCA397151195ANKRD11c.6416C>G (p.Pro2139Arg)
c.*6219C>G (n.*6219C>G)
c.745-4935C>G (n.745-4935C>G)
c.152-4935C>G
c.6314C>G (p.Pro2105Arg)
c.6119C>G (p.Pro2040Arg)
c.6287C>G (p.Pro2096Arg)
16g.89280126G=CA2241587188ANKRD11c.6416C= (p.Pro2139=)
c.*6219C= (n.*6219C=)
c.745-4935C= (n.745-4935C=)
c.152-4935C=
c.6314C= (p.Pro2105=)
c.6119C= (p.Pro2040=)
c.6287C= (p.Pro2096=)
16g.89280126G>TCA397151194ANKRD11c.6416C>A (p.Pro2139Gln)
c.*6219C>A (n.*6219C>A)
c.745-4935C>A (n.745-4935C>A)
c.152-4935C>A
c.6314C>A (p.Pro2105Gln)
c.6119C>A (p.Pro2040Gln)
c.6287C>A (p.Pro2096Gln)
16g.89280127G>ACA397151196ANKRD11c.6415C>T (p.Pro2139Ser)
c.*6218C>T (n.*6218C>T)
c.745-4936C>T (n.745-4936C>T)
c.152-4936C>T
c.6313C>T (p.Pro2105Ser)
c.6118C>T (p.Pro2040Ser)
c.6286C>T (p.Pro2096Ser)
 ClinVar dbSNP gnomAD v4
16g.89280127G>CCA397151197ANKRD11c.6415C>G (p.Pro2139Ala)
c.*6218C>G (n.*6218C>G)
c.745-4936C>G (n.745-4936C>G)
c.152-4936C>G
c.6313C>G (p.Pro2105Ala)
c.6118C>G (p.Pro2040Ala)
c.6286C>G (p.Pro2096Ala)
16g.89280127G=CA2241587189ANKRD11c.6415C= (p.Pro2139=)
c.*6218C= (n.*6218C=)
c.745-4936C= (n.745-4936C=)
c.152-4936C=
c.6313C= (p.Pro2105=)
c.6118C= (p.Pro2040=)
c.6286C= (p.Pro2096=)
16g.89280127G>TCA397151198ANKRD11c.6415C>A (p.Pro2139Thr)
c.*6218C>A (n.*6218C>A)
c.745-4936C>A (n.745-4936C>A)
c.152-4936C>A
c.6313C>A (p.Pro2105Thr)
c.6118C>A (p.Pro2040Thr)
c.6286C>A (p.Pro2096Thr)
 gnomAD v4
16g.89280128C>ACA497373291ANKRD11c.6414G>T (p.Leu2138=)
c.*6217G>T (n.*6217G>T)
c.745-4937G>T (n.745-4937G>T)
c.152-4937G>T
c.6312G>T (p.Leu2104=)
c.6117G>T (p.Leu2039=)
c.6285G>T (p.Leu2095=)
16g.89280128C>GCA497373290ANKRD11c.6414G>C (p.Leu2138=)
c.*6217G>C (n.*6217G>C)
c.745-4937G>C (n.745-4937G>C)
c.152-4937G>C
c.6312G>C (p.Leu2104=)
c.6117G>C (p.Leu2039=)
c.6285G>C (p.Leu2095=)
16g.89280128C>TCA497373289ANKRD11c.6414G>A (p.Leu2138=)
c.*6217G>A (n.*6217G>A)
c.745-4937G>A (n.745-4937G>A)
c.152-4937G>A
c.6312G>A (p.Leu2104=)
c.6117G>A (p.Leu2039=)
c.6285G>A (p.Leu2095=)
 gnomAD v4
16g.89280129A=CA2241587190ANKRD11c.6413T= (p.Leu2138=)
c.*6216T= (n.*6216T=)
c.745-4938T= (n.745-4938T=)
c.152-4938T=
c.6311T= (p.Leu2104=)
c.6116T= (p.Leu2039=)
c.6284T= (p.Leu2095=)
16g.89280129A>CCA397151199ANKRD11c.6413T>G (p.Leu2138Arg)
c.*6216T>G (n.*6216T>G)
c.745-4938T>G (n.745-4938T>G)
c.152-4938T>G
c.6311T>G (p.Leu2104Arg)
c.6116T>G (p.Leu2039Arg)
c.6284T>G (p.Leu2095Arg)
16g.89280129A>GCA397151200ANKRD11c.6413T>C (p.Leu2138Pro)
c.*6216T>C (n.*6216T>C)
c.745-4938T>C (n.745-4938T>C)
c.152-4938T>C
c.6311T>C (p.Leu2104Pro)
c.6116T>C (p.Leu2039Pro)
c.6284T>C (p.Leu2095Pro)
 dbSNP gnomAD v4
16g.89280129A>TCA397151201ANKRD11c.6413T>A (p.Leu2138Gln)
c.*6216T>A (n.*6216T>A)
c.745-4938T>A (n.745-4938T>A)
c.152-4938T>A
c.6311T>A (p.Leu2104Gln)
c.6116T>A (p.Leu2039Gln)
c.6284T>A (p.Leu2095Gln)
16g.89280130G>ACA8241458ANKRD11c.6412C>T (p.Leu2138=)
c.*6215C>T (n.*6215C>T)
c.745-4939C>T (n.745-4939C>T)
c.152-4939C>T
c.6310C>T (p.Leu2104=)
c.6115C>T (p.Leu2039=)
c.6283C>T (p.Leu2095=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280130G>CCA397151203ANKRD11c.6412C>G (p.Leu2138Val)
c.*6215C>G (n.*6215C>G)
c.745-4939C>G (n.745-4939C>G)
c.152-4939C>G
c.6310C>G (p.Leu2104Val)
c.6115C>G (p.Leu2039Val)
c.6283C>G (p.Leu2095Val)
 gnomAD v4
16g.89280130G=CA2241587191ANKRD11c.6412C= (p.Leu2138=)
c.*6215C= (n.*6215C=)
c.745-4939C= (n.745-4939C=)
c.152-4939C=
c.6310C= (p.Leu2104=)
c.6115C= (p.Leu2039=)
c.6283C= (p.Leu2095=)
16g.89280130G>TCA397151202ANKRD11c.6412C>A (p.Leu2138Met)
c.*6215C>A (n.*6215C>A)
c.745-4939C>A (n.745-4939C>A)
c.152-4939C>A
c.6310C>A (p.Leu2104Met)
c.6115C>A (p.Leu2039Met)
c.6283C>A (p.Leu2095Met)
 gnomAD v4
16g.89280131G>ACA8241459ANKRD11c.6411C>T (p.Ser2137=)
c.*6214C>T (n.*6214C>T)
c.745-4940C>T (n.745-4940C>T)
c.152-4940C>T
c.6309C>T (p.Ser2103=)
c.6114C>T (p.Ser2038=)
c.6282C>T (p.Ser2094=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280131G>CCA497373294ANKRD11c.6411C>G (p.Ser2137=)
c.*6214C>G (n.*6214C>G)
c.745-4940C>G (n.745-4940C>G)
c.152-4940C>G
c.6309C>G (p.Ser2103=)
c.6114C>G (p.Ser2038=)
c.6282C>G (p.Ser2094=)
 gnomAD v4
16g.89280131G=CA2241587192ANKRD11c.6411C= (p.Ser2137=)
c.*6214C= (n.*6214C=)
c.745-4940C= (n.745-4940C=)
c.152-4940C=
c.6309C= (p.Ser2103=)
c.6114C= (p.Ser2038=)
c.6282C= (p.Ser2094=)
16g.89280131G>TCA497373293ANKRD11c.6411C>A (p.Ser2137=)
c.*6214C>A (n.*6214C>A)
c.745-4940C>A (n.745-4940C>A)
c.152-4940C>A
c.6309C>A (p.Ser2103=)
c.6114C>A (p.Ser2038=)
c.6282C>A (p.Ser2094=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280132G>ACA397151204ANKRD11c.6410C>T (p.Ser2137Phe)
c.*6213C>T (n.*6213C>T)
c.745-4941C>T (n.745-4941C>T)
c.152-4941C>T
c.6308C>T (p.Ser2103Phe)
c.6113C>T (p.Ser2038Phe)
c.6281C>T (p.Ser2094Phe)
 gnomAD v4
16g.89280132G>CCA8241460ANKRD11c.6410C>G (p.Ser2137Cys)
c.*6213C>G (n.*6213C>G)
c.745-4941C>G (n.745-4941C>G)
c.152-4941C>G
c.6308C>G (p.Ser2103Cys)
c.6113C>G (p.Ser2038Cys)
c.6281C>G (p.Ser2094Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280132G=CA2241587193ANKRD11c.6410C= (p.Ser2137=)
c.*6213C= (n.*6213C=)
c.745-4941C= (n.745-4941C=)
c.152-4941C=
c.6308C= (p.Ser2103=)
c.6113C= (p.Ser2038=)
c.6281C= (p.Ser2094=)
16g.89280132G>TCA397151205ANKRD11c.6410C>A (p.Ser2137Tyr)
c.*6213C>A (n.*6213C>A)
c.745-4941C>A (n.745-4941C>A)
c.152-4941C>A
c.6308C>A (p.Ser2103Tyr)
c.6113C>A (p.Ser2038Tyr)
c.6281C>A (p.Ser2094Tyr)
16g.89280134_89280135delCA2695223920ANKRD11c.6409_6410del (p.Ser2137ProfsTer9)
c.*6212_*6213del (n.*6212_*6213del)
c.745-4942_745-4941del (n.745-4942_745-4941del)
c.152-4942_152-4941del
c.6307_6308del (p.Ser2103ProfsTer9)
c.6112_6113del (p.Ser2038ProfsTer9)
c.6280_6281del (p.Ser2094ProfsTer9)
16g.89280133A>CCA397151206ANKRD11c.6409T>G (p.Ser2137Ala)
c.*6212T>G (n.*6212T>G)
c.745-4942T>G (n.745-4942T>G)
c.152-4942T>G
c.6307T>G (p.Ser2103Ala)
c.6112T>G (p.Ser2038Ala)
c.6280T>G (p.Ser2094Ala)
16g.89280133A>GCA397151207ANKRD11c.6409T>C (p.Ser2137Pro)
c.*6212T>C (n.*6212T>C)
c.745-4942T>C (n.745-4942T>C)
c.152-4942T>C
c.6307T>C (p.Ser2103Pro)
c.6112T>C (p.Ser2038Pro)
c.6280T>C (p.Ser2094Pro)
16g.89280133A>TCA397151208ANKRD11c.6409T>A (p.Ser2137Thr)
c.*6212T>A (n.*6212T>A)
c.745-4942T>A (n.745-4942T>A)
c.152-4942T>A
c.6307T>A (p.Ser2103Thr)
c.6112T>A (p.Ser2038Thr)
c.6280T>A (p.Ser2094Thr)
16g.89280134G>ACA8241461ANKRD11c.6408C>T (p.Phe2136=)
c.*6211C>T (n.*6211C>T)
c.745-4943C>T (n.745-4943C>T)
c.152-4943C>T
c.6306C>T (p.Phe2102=)
c.6111C>T (p.Phe2037=)
c.6279C>T (p.Phe2093=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280134G>CCA397151209ANKRD11c.6408C>G (p.Phe2136Leu)
c.*6211C>G (n.*6211C>G)
c.745-4943C>G (n.745-4943C>G)
c.152-4943C>G
c.6306C>G (p.Phe2102Leu)
c.6111C>G (p.Phe2037Leu)
c.6279C>G (p.Phe2093Leu)
16g.89280134G=CA2241587194ANKRD11c.6408C= (p.Phe2136=)
c.*6211C= (n.*6211C=)
c.745-4943C= (n.745-4943C=)
c.152-4943C=
c.6306C= (p.Phe2102=)
c.6111C= (p.Phe2037=)
c.6279C= (p.Phe2093=)
16g.89280134G>TCA397151210ANKRD11c.6408C>A (p.Phe2136Leu)
c.*6211C>A (n.*6211C>A)
c.745-4943C>A (n.745-4943C>A)
c.152-4943C>A
c.6306C>A (p.Phe2102Leu)
c.6111C>A (p.Phe2037Leu)
c.6279C>A (p.Phe2093Leu)
16g.89280135A>CCA397151213ANKRD11c.6407T>G (p.Phe2136Cys)
c.*6210T>G (n.*6210T>G)
c.745-4944T>G (n.745-4944T>G)
c.152-4944T>G
c.6305T>G (p.Phe2102Cys)
c.6110T>G (p.Phe2037Cys)
c.6278T>G (p.Phe2093Cys)
16g.89280135A>GCA397151212ANKRD11c.6407T>C (p.Phe2136Ser)
c.*6210T>C (n.*6210T>C)
c.745-4944T>C (n.745-4944T>C)
c.152-4944T>C
c.6305T>C (p.Phe2102Ser)
c.6110T>C (p.Phe2037Ser)
c.6278T>C (p.Phe2093Ser)
16g.89280135A>TCA397151211ANKRD11c.6407T>A (p.Phe2136Tyr)
c.*6210T>A (n.*6210T>A)
c.745-4944T>A (n.745-4944T>A)
c.152-4944T>A
c.6305T>A (p.Phe2102Tyr)
c.6110T>A (p.Phe2037Tyr)
c.6278T>A (p.Phe2093Tyr)
16g.89280136A>CCA397151214ANKRD11c.6406T>G (p.Phe2136Val)
c.*6209T>G (n.*6209T>G)
c.745-4945T>G (n.745-4945T>G)
c.152-4945T>G
c.6304T>G (p.Phe2102Val)
c.6109T>G (p.Phe2037Val)
c.6277T>G (p.Phe2093Val)
16g.89280136A>GCA397151215ANKRD11c.6406T>C (p.Phe2136Leu)
c.*6209T>C (n.*6209T>C)
c.745-4945T>C (n.745-4945T>C)
c.152-4945T>C
c.6304T>C (p.Phe2102Leu)
c.6109T>C (p.Phe2037Leu)
c.6277T>C (p.Phe2093Leu)
16g.89280136A>TCA397151216ANKRD11c.6406T>A (p.Phe2136Ile)
c.*6209T>A (n.*6209T>A)
c.745-4945T>A (n.745-4945T>A)
c.152-4945T>A
c.6304T>A (p.Phe2102Ile)
c.6109T>A (p.Phe2037Ile)
c.6277T>A (p.Phe2093Ile)
16g.89280137G>ACA497373295ANKRD11c.6405C>T (p.Pro2135=)
c.*6208C>T (n.*6208C>T)
c.745-4946C>T (n.745-4946C>T)
c.152-4946C>T
c.6303C>T (p.Pro2101=)
c.6108C>T (p.Pro2036=)
c.6276C>T (p.Pro2092=)
 gnomAD v4
16g.89280137G>CCA497373296ANKRD11c.6405C>G (p.Pro2135=)
c.*6208C>G (n.*6208C>G)
c.745-4946C>G (n.745-4946C>G)
c.152-4946C>G
c.6303C>G (p.Pro2101=)
c.6108C>G (p.Pro2036=)
c.6276C>G (p.Pro2092=)
16g.89280137G>TCA497373297ANKRD11c.6405C>A (p.Pro2135=)
c.*6208C>A (n.*6208C>A)
c.745-4946C>A (n.745-4946C>A)
c.152-4946C>A
c.6303C>A (p.Pro2101=)
c.6108C>A (p.Pro2036=)
c.6276C>A (p.Pro2092=)
 gnomAD v4
16g.89280138G>ACA397151217ANKRD11c.6404C>T (p.Pro2135Leu)
c.*6207C>T (n.*6207C>T)
c.745-4947C>T (n.745-4947C>T)
c.152-4947C>T
c.6302C>T (p.Pro2101Leu)
c.6107C>T (p.Pro2036Leu)
c.6275C>T (p.Pro2092Leu)
 gnomAD v4
16g.89280138G>CCA397151218ANKRD11c.6404C>G (p.Pro2135Arg)
c.*6207C>G (n.*6207C>G)
c.745-4947C>G (n.745-4947C>G)
c.152-4947C>G
c.6302C>G (p.Pro2101Arg)
c.6107C>G (p.Pro2036Arg)
c.6275C>G (p.Pro2092Arg)
 gnomAD v4
16g.89280138G>TCA397151219ANKRD11c.6404C>A (p.Pro2135His)
c.*6207C>A (n.*6207C>A)
c.745-4947C>A (n.745-4947C>A)
c.152-4947C>A
c.6302C>A (p.Pro2101His)
c.6107C>A (p.Pro2036His)
c.6275C>A (p.Pro2092His)
16g.89280139G>ACA286510281ANKRD11c.6403C>T (p.Pro2135Ser)
c.*6206C>T (n.*6206C>T)
c.745-4948C>T (n.745-4948C>T)
c.152-4948C>T
c.6301C>T (p.Pro2101Ser)
c.6106C>T (p.Pro2036Ser)
c.6274C>T (p.Pro2092Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280139G>CCA397151221ANKRD11c.6403C>G (p.Pro2135Ala)
c.*6206C>G (n.*6206C>G)
c.745-4948C>G (n.745-4948C>G)
c.152-4948C>G
c.6301C>G (p.Pro2101Ala)
c.6106C>G (p.Pro2036Ala)
c.6274C>G (p.Pro2092Ala)
16g.89280139G=CA2241587195ANKRD11c.6403C= (p.Pro2135=)
c.*6206C= (n.*6206C=)
c.745-4948C= (n.745-4948C=)
c.152-4948C=
c.6301C= (p.Pro2101=)
c.6106C= (p.Pro2036=)
c.6274C= (p.Pro2092=)
16g.89280139G>TCA397151220ANKRD11c.6403C>A (p.Pro2135Thr)
c.*6206C>A (n.*6206C>A)
c.745-4948C>A (n.745-4948C>A)
c.152-4948C>A
c.6301C>A (p.Pro2101Thr)
c.6106C>A (p.Pro2036Thr)
c.6274C>A (p.Pro2092Thr)
 ClinVar gnomAD v4
16g.89280140C>ACA497373299ANKRD11c.6402G>T (p.Gly2134=)
c.*6205G>T (n.*6205G>T)
c.745-4949G>T (n.745-4949G>T)
c.152-4949G>T
c.6300G>T (p.Gly2100=)
c.6105G>T (p.Gly2035=)
c.6273G>T (p.Gly2091=)
 dbSNP gnomAD v3 gnomAD v4
16g.89280140C=CA2241587196ANKRD11c.6402G= (p.Gly2134=)
c.*6205G= (n.*6205G=)
c.745-4949G= (n.745-4949G=)
c.152-4949G=
c.6300G= (p.Gly2100=)
c.6105G= (p.Gly2035=)
c.6273G= (p.Gly2091=)
16g.89280140C>GCA497373300ANKRD11c.6402G>C (p.Gly2134=)
c.*6205G>C (n.*6205G>C)
c.745-4949G>C (n.745-4949G>C)
c.152-4949G>C
c.6300G>C (p.Gly2100=)
c.6105G>C (p.Gly2035=)
c.6273G>C (p.Gly2091=)
16g.89280140C>TCA8241462ANKRD11c.6402G>A (p.Gly2134=)
c.*6205G>A (n.*6205G>A)
c.745-4949G>A (n.745-4949G>A)
c.152-4949G>A
c.6300G>A (p.Gly2100=)
c.6105G>A (p.Gly2035=)
c.6273G>A (p.Gly2091=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280143delCA2573054294ANKRD11c.6402del (p.Phe2136SerfsTer?)
c.*6205del (n.*6205del)
c.745-4949del (n.745-4949del)
c.152-4949del
c.6300del (p.Phe2102SerfsTer?)
c.6105del (p.Phe2037SerfsTer?)
c.6273del (p.Phe2093SerfsTer?)
 ClinVar dbSNP gnomAD v4
16g.89280141C>ACA397151222ANKRD11c.6401G>T (p.Gly2134Val)
c.*6204G>T (n.*6204G>T)
c.745-4950G>T (n.745-4950G>T)
c.152-4950G>T
c.6299G>T (p.Gly2100Val)
c.6104G>T (p.Gly2035Val)
c.6272G>T (p.Gly2091Val)
16g.89280141C>GCA397151223ANKRD11c.6401G>C (p.Gly2134Ala)
c.*6204G>C (n.*6204G>C)
c.745-4950G>C (n.745-4950G>C)
c.152-4950G>C
c.6299G>C (p.Gly2100Ala)
c.6104G>C (p.Gly2035Ala)
c.6272G>C (p.Gly2091Ala)
16g.89280141C>TCA397151224ANKRD11c.6401G>A (p.Gly2134Glu)
c.*6204G>A (n.*6204G>A)
c.745-4950G>A (n.745-4950G>A)
c.152-4950G>A
c.6299G>A (p.Gly2100Glu)
c.6104G>A (p.Gly2035Glu)
c.6272G>A (p.Gly2091Glu)
 COSMIC
16g.89280142C>ACA397151225ANKRD11c.6400G>T (p.Gly2134Trp)
c.*6203G>T (n.*6203G>T)
c.745-4951G>T (n.745-4951G>T)
c.152-4951G>T
c.6298G>T (p.Gly2100Trp)
c.6103G>T (p.Gly2035Trp)
c.6271G>T (p.Gly2091Trp)
16g.89280142C>GCA397151226ANKRD11c.6400G>C (p.Gly2134Arg)
c.*6203G>C (n.*6203G>C)
c.745-4951G>C (n.745-4951G>C)
c.152-4951G>C
c.6298G>C (p.Gly2100Arg)
c.6103G>C (p.Gly2035Arg)
c.6271G>C (p.Gly2091Arg)
16g.89280142C>TCA397151227ANKRD11c.6400G>A (p.Gly2134Arg)
c.*6203G>A (n.*6203G>A)
c.745-4951G>A (n.745-4951G>A)
c.152-4951G>A
c.6298G>A (p.Gly2100Arg)
c.6103G>A (p.Gly2035Arg)
c.6271G>A (p.Gly2091Arg)
16g.89280143C>ACA497373307ANKRD11c.6399G>T (p.Leu2133=)
c.*6202G>T (n.*6202G>T)
c.745-4952G>T (n.745-4952G>T)
c.152-4952G>T
c.6297G>T (p.Leu2099=)
c.6102G>T (p.Leu2034=)
c.6270G>T (p.Leu2090=)
16g.89280143C>GCA497373308ANKRD11c.6399G>C (p.Leu2133=)
c.*6202G>C (n.*6202G>C)
c.745-4952G>C (n.745-4952G>C)
c.152-4952G>C
c.6297G>C (p.Leu2099=)
c.6102G>C (p.Leu2034=)
c.6270G>C (p.Leu2090=)
16g.89280143C>TCA497373309ANKRD11c.6399G>A (p.Leu2133=)
c.*6202G>A (n.*6202G>A)
c.745-4952G>A (n.745-4952G>A)
c.152-4952G>A
c.6297G>A (p.Leu2099=)
c.6102G>A (p.Leu2034=)
c.6270G>A (p.Leu2090=)
16g.89280144A>CCA397151228ANKRD11c.6398T>G (p.Leu2133Arg)
c.*6201T>G (n.*6201T>G)
c.745-4953T>G (n.745-4953T>G)
c.152-4953T>G
c.6296T>G (p.Leu2099Arg)
c.6101T>G (p.Leu2034Arg)
c.6269T>G (p.Leu2090Arg)
16g.89280144A>GCA397151230ANKRD11c.6398T>C (p.Leu2133Pro)
c.*6201T>C (n.*6201T>C)
c.745-4953T>C (n.745-4953T>C)
c.152-4953T>C
c.6296T>C (p.Leu2099Pro)
c.6101T>C (p.Leu2034Pro)
c.6269T>C (p.Leu2090Pro)
 gnomAD v4
16g.89280144A>TCA397151229ANKRD11c.6398T>A (p.Leu2133Gln)
c.*6201T>A (n.*6201T>A)
c.745-4953T>A (n.745-4953T>A)
c.152-4953T>A
c.6296T>A (p.Leu2099Gln)
c.6101T>A (p.Leu2034Gln)
c.6269T>A (p.Leu2090Gln)
16g.89280145G>ACA497373311ANKRD11c.6397C>T (p.Leu2133=)
c.*6200C>T (n.*6200C>T)
c.745-4954C>T (n.745-4954C>T)
c.152-4954C>T
c.6295C>T (p.Leu2099=)
c.6100C>T (p.Leu2034=)
c.6268C>T (p.Leu2090=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280145G>CCA397151231ANKRD11c.6397C>G (p.Leu2133Val)
c.*6200C>G (n.*6200C>G)
c.745-4954C>G (n.745-4954C>G)
c.152-4954C>G
c.6295C>G (p.Leu2099Val)
c.6100C>G (p.Leu2034Val)
c.6268C>G (p.Leu2090Val)
 dbSNP
16g.89280145G=CA2241587197ANKRD11c.6397C= (p.Leu2133=)
c.*6200C= (n.*6200C=)
c.745-4954C= (n.745-4954C=)
c.152-4954C=
c.6295C= (p.Leu2099=)
c.6100C= (p.Leu2034=)
c.6268C= (p.Leu2090=)
16g.89280145G>TCA397151232ANKRD11c.6397C>A (p.Leu2133Met)
c.*6200C>A (n.*6200C>A)
c.745-4954C>A (n.745-4954C>A)
c.152-4954C>A
c.6295C>A (p.Leu2099Met)
c.6100C>A (p.Leu2034Met)
c.6268C>A (p.Leu2090Met)
16g.89280146G>ACA8241463ANKRD11c.6396C>T (p.Asp2132=)
c.*6199C>T (n.*6199C>T)
c.745-4955C>T (n.745-4955C>T)
c.152-4955C>T
c.6294C>T (p.Asp2098=)
c.6099C>T (p.Asp2033=)
c.6267C>T (p.Asp2089=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280146G>CCA286510282ANKRD11c.6396C>G (p.Asp2132Glu)
c.*6199C>G (n.*6199C>G)
c.745-4955C>G (n.745-4955C>G)
c.152-4955C>G
c.6294C>G (p.Asp2098Glu)
c.6099C>G (p.Asp2033Glu)
c.6267C>G (p.Asp2089Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280146G=CA2241587198ANKRD11c.6396C= (p.Asp2132=)
c.*6199C= (n.*6199C=)
c.745-4955C= (n.745-4955C=)
c.152-4955C=
c.6294C= (p.Asp2098=)
c.6099C= (p.Asp2033=)
c.6267C= (p.Asp2089=)
16g.89280146G>TCA397151233ANKRD11c.6396C>A (p.Asp2132Glu)
c.*6199C>A (n.*6199C>A)
c.745-4955C>A (n.745-4955C>A)
c.152-4955C>A
c.6294C>A (p.Asp2098Glu)
c.6099C>A (p.Asp2033Glu)
c.6267C>A (p.Asp2089Glu)
 dbSNP
16g.89280150_89280179delCA2634942354ANKRD11c.6367_6396del (p.Ala2123_Asp2132del)
c.*6170_*6199del (n.*6170_*6199del)
c.745-4984_745-4955del (n.745-4984_745-4955del)
c.152-4984_152-4955del
c.6265_6294del (p.Ala2089_Asp2098del)
c.6070_6099del (p.Ala2024_Asp2033del)
c.6238_6267del (p.Ala2080_Asp2089del)
 gnomAD v4
16g.89280147T>ACA286510283ANKRD11c.6395A>T (p.Asp2132Val)
c.*6198A>T (n.*6198A>T)
c.745-4956A>T (n.745-4956A>T)
c.152-4956A>T
c.6293A>T (p.Asp2098Val)
c.6098A>T (p.Asp2033Val)
c.6266A>T (p.Asp2089Val)
 dbSNP gnomAD v4
16g.89280147T>CCA397151234ANKRD11c.6395A>G (p.Asp2132Gly)
c.*6198A>G (n.*6198A>G)
c.745-4956A>G (n.745-4956A>G)
c.152-4956A>G
c.6293A>G (p.Asp2098Gly)
c.6098A>G (p.Asp2033Gly)
c.6266A>G (p.Asp2089Gly)
16g.89280147T>GCA397151235ANKRD11c.6395A>C (p.Asp2132Ala)
c.*6198A>C (n.*6198A>C)
c.745-4956A>C (n.745-4956A>C)
c.152-4956A>C
c.6293A>C (p.Asp2098Ala)
c.6098A>C (p.Asp2033Ala)
c.6266A>C (p.Asp2089Ala)
16g.89280147T=CA2241587199ANKRD11c.6395A= (p.Asp2132=)
c.*6198A= (n.*6198A=)
c.745-4956A= (n.745-4956A=)
c.152-4956A=
c.6293A= (p.Asp2098=)
c.6098A= (p.Asp2033=)
c.6266A= (p.Asp2089=)
16g.89280147_89280148delinsATCA2573054295ANKRD11c.6394_6395delinsAT (p.Asp2132Ile)
c.*6197_*6198delinsAT (n.*6197_*6198delinsAT)
c.745-4957_745-4956delinsAT (n.745-4957_745-4956delinsAT)
c.152-4957_152-4956delinsAT
c.6292_6293delinsAT (p.Asp2098Ile)
c.6097_6098delinsAT (p.Asp2033Ile)
c.6265_6266delinsAT (p.Asp2089Ile)
 ClinVar dbSNP
16g.89280148C>ACA397151236ANKRD11c.6394G>T (p.Asp2132Tyr)
c.*6197G>T (n.*6197G>T)
c.745-4957G>T (n.745-4957G>T)
c.152-4957G>T
c.6292G>T (p.Asp2098Tyr)
c.6097G>T (p.Asp2033Tyr)
c.6265G>T (p.Asp2089Tyr)
16g.89280148C=CA2241587200ANKRD11c.6394G= (p.Asp2132=)
c.*6197G= (n.*6197G=)
c.745-4957G= (n.745-4957G=)
c.152-4957G=
c.6292G= (p.Asp2098=)
c.6097G= (p.Asp2033=)
c.6265G= (p.Asp2089=)
16g.89280148C>GCA397151237ANKRD11c.6394G>C (p.Asp2132His)
c.*6197G>C (n.*6197G>C)
c.745-4957G>C (n.745-4957G>C)
c.152-4957G>C
c.6292G>C (p.Asp2098His)
c.6097G>C (p.Asp2033His)
c.6265G>C (p.Asp2089His)
16g.89280148C>TCA286510285ANKRD11c.6394G>A (p.Asp2132Asn)
c.*6197G>A (n.*6197G>A)
c.745-4957G>A (n.745-4957G>A)
c.152-4957G>A
c.6292G>A (p.Asp2098Asn)
c.6097G>A (p.Asp2033Asn)
c.6265G>A (p.Asp2089Asn)
 dbSNP gnomAD v4
16g.89280149C>ACA8241464ANKRD11c.6393G>T (p.Leu2131=)
c.*6196G>T (n.*6196G>T)
c.745-4958G>T (n.745-4958G>T)
c.152-4958G>T
c.6291G>T (p.Leu2097=)
c.6096G>T (p.Leu2032=)
c.6264G>T (p.Leu2088=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280149C=CA2241587201ANKRD11c.6393G= (p.Leu2131=)
c.*6196G= (n.*6196G=)
c.745-4958G= (n.745-4958G=)
c.152-4958G=
c.6291G= (p.Leu2097=)
c.6096G= (p.Leu2032=)
c.6264G= (p.Leu2088=)
16g.89280149C>GCA497373321ANKRD11c.6393G>C (p.Leu2131=)
c.*6196G>C (n.*6196G>C)
c.745-4958G>C (n.745-4958G>C)
c.152-4958G>C
c.6291G>C (p.Leu2097=)
c.6096G>C (p.Leu2032=)
c.6264G>C (p.Leu2088=)
 ClinVar dbSNP
16g.89280149C>TCA497373318ANKRD11c.6393G>A (p.Leu2131=)
c.*6196G>A (n.*6196G>A)
c.745-4958G>A (n.745-4958G>A)
c.152-4958G>A
c.6291G>A (p.Leu2097=)
c.6096G>A (p.Leu2032=)
c.6264G>A (p.Leu2088=)
 dbSNP
16g.89280150A=CA2241587202ANKRD11c.6392T= (p.Leu2131=)
c.*6195T= (n.*6195T=)
c.745-4959T= (n.745-4959T=)
c.152-4959T=
c.6290T= (p.Leu2097=)
c.6095T= (p.Leu2032=)
c.6263T= (p.Leu2088=)
16g.89280150A>CCA397151238ANKRD11c.6392T>G (p.Leu2131Arg)
c.*6195T>G (n.*6195T>G)
c.745-4959T>G (n.745-4959T>G)
c.152-4959T>G
c.6290T>G (p.Leu2097Arg)
c.6095T>G (p.Leu2032Arg)
c.6263T>G (p.Leu2088Arg)
16g.89280150A>GCA397151240ANKRD11c.6392T>C (p.Leu2131Pro)
c.*6195T>C (n.*6195T>C)
c.745-4959T>C (n.745-4959T>C)
c.152-4959T>C
c.6290T>C (p.Leu2097Pro)
c.6095T>C (p.Leu2032Pro)
c.6263T>C (p.Leu2088Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280150A>TCA397151239ANKRD11c.6392T>A (p.Leu2131Gln)
c.*6195T>A (n.*6195T>A)
c.745-4959T>A (n.745-4959T>A)
c.152-4959T>A
c.6290T>A (p.Leu2097Gln)
c.6095T>A (p.Leu2032Gln)
c.6263T>A (p.Leu2088Gln)
16g.89280151G>ACA8241465ANKRD11c.6391C>T (p.Leu2131=)
c.*6194C>T (n.*6194C>T)
c.745-4960C>T (n.745-4960C>T)
c.152-4960C>T
c.6289C>T (p.Leu2097=)
c.6094C>T (p.Leu2032=)
c.6262C>T (p.Leu2088=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280151G>CCA397151241ANKRD11c.6391C>G (p.Leu2131Val)
c.*6194C>G (n.*6194C>G)
c.745-4960C>G (n.745-4960C>G)
c.152-4960C>G
c.6289C>G (p.Leu2097Val)
c.6094C>G (p.Leu2032Val)
c.6262C>G (p.Leu2088Val)
16g.89280151G=CA2241587203ANKRD11c.6391C= (p.Leu2131=)
c.*6194C= (n.*6194C=)
c.745-4960C= (n.745-4960C=)
c.152-4960C=
c.6289C= (p.Leu2097=)
c.6094C= (p.Leu2032=)
c.6262C= (p.Leu2088=)
16g.89280151G>TCA397151242ANKRD11c.6391C>A (p.Leu2131Met)
c.*6194C>A (n.*6194C>A)
c.745-4960C>A (n.745-4960C>A)
c.152-4960C>A
c.6289C>A (p.Leu2097Met)
c.6094C>A (p.Leu2032Met)
c.6262C>A (p.Leu2088Met)
16g.89280152G>ACA8241466ANKRD11c.6390C>T (p.Asp2130=)
c.*6193C>T (n.*6193C>T)
c.745-4961C>T (n.745-4961C>T)
c.152-4961C>T
c.6288C>T (p.Asp2096=)
c.6093C>T (p.Asp2031=)
c.6261C>T (p.Asp2087=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280152G>CCA397151243ANKRD11c.6390C>G (p.Asp2130Glu)
c.*6193C>G (n.*6193C>G)
c.745-4961C>G (n.745-4961C>G)
c.152-4961C>G
c.6288C>G (p.Asp2096Glu)
c.6093C>G (p.Asp2031Glu)
c.6261C>G (p.Asp2087Glu)
16g.89280152G=CA2241587204ANKRD11c.6390C= (p.Asp2130=)
c.*6193C= (n.*6193C=)
c.745-4961C= (n.745-4961C=)
c.152-4961C=
c.6288C= (p.Asp2096=)
c.6093C= (p.Asp2031=)
c.6261C= (p.Asp2087=)
16g.89280152G>TCA397151244ANKRD11c.6390C>A (p.Asp2130Glu)
c.*6193C>A (n.*6193C>A)
c.745-4961C>A (n.745-4961C>A)
c.152-4961C>A
c.6288C>A (p.Asp2096Glu)
c.6093C>A (p.Asp2031Glu)
c.6261C>A (p.Asp2087Glu)
16g.89280153T>ACA397151247ANKRD11c.6389A>T (p.Asp2130Val)
c.*6192A>T (n.*6192A>T)
c.745-4962A>T (n.745-4962A>T)
c.152-4962A>T
c.6287A>T (p.Asp2096Val)
c.6092A>T (p.Asp2031Val)
c.6260A>T (p.Asp2087Val)
16g.89280153T>CCA397151245ANKRD11c.6389A>G (p.Asp2130Gly)
c.*6192A>G (n.*6192A>G)
c.745-4962A>G (n.745-4962A>G)
c.152-4962A>G
c.6287A>G (p.Asp2096Gly)
c.6092A>G (p.Asp2031Gly)
c.6260A>G (p.Asp2087Gly)
16g.89280153T>GCA397151246ANKRD11c.6389A>C (p.Asp2130Ala)
c.*6192A>C (n.*6192A>C)
c.745-4962A>C (n.745-4962A>C)
c.152-4962A>C
c.6287A>C (p.Asp2096Ala)
c.6092A>C (p.Asp2031Ala)
c.6260A>C (p.Asp2087Ala)
16g.89280154C>ACA397151248ANKRD11c.6388G>T (p.Asp2130Tyr)
c.*6191G>T (n.*6191G>T)
c.745-4963G>T (n.745-4963G>T)
c.152-4963G>T
c.6286G>T (p.Asp2096Tyr)
c.6091G>T (p.Asp2031Tyr)
c.6259G>T (p.Asp2087Tyr)
16g.89280154C=CA2241587205ANKRD11c.6388G= (p.Asp2130=)
c.*6191G= (n.*6191G=)
c.745-4963G= (n.745-4963G=)
c.152-4963G=
c.6286G= (p.Asp2096=)
c.6091G= (p.Asp2031=)
c.6259G= (p.Asp2087=)
16g.89280154C>GCA397151249ANKRD11c.6388G>C (p.Asp2130His)
c.*6191G>C (n.*6191G>C)
c.745-4963G>C (n.745-4963G>C)
c.152-4963G>C
c.6286G>C (p.Asp2096His)
c.6091G>C (p.Asp2031His)
c.6259G>C (p.Asp2087His)
16g.89280154C>TCA8241467ANKRD11c.6388G>A (p.Asp2130Asn)
c.*6191G>A (n.*6191G>A)
c.745-4963G>A (n.745-4963G>A)
c.152-4963G>A
c.6286G>A (p.Asp2096Asn)
c.6091G>A (p.Asp2031Asn)
c.6259G>A (p.Asp2087Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280155G>ACA497373327ANKRD11c.6387C>T (p.Asp2129=)
c.*6190C>T (n.*6190C>T)
c.745-4964C>T (n.745-4964C>T)
c.152-4964C>T
c.6285C>T (p.Asp2095=)
c.6090C>T (p.Asp2030=)
c.6258C>T (p.Asp2086=)
 gnomAD v4
16g.89280155G>CCA397151250ANKRD11c.6387C>G (p.Asp2129Glu)
c.*6190C>G (n.*6190C>G)
c.745-4964C>G (n.745-4964C>G)
c.152-4964C>G
c.6285C>G (p.Asp2095Glu)
c.6090C>G (p.Asp2030Glu)
c.6258C>G (p.Asp2086Glu)
16g.89280155G=CA2241587206ANKRD11c.6387C= (p.Asp2129=)
c.*6190C= (n.*6190C=)
c.745-4964C= (n.745-4964C=)
c.152-4964C=
c.6285C= (p.Asp2095=)
c.6090C= (p.Asp2030=)
c.6258C= (p.Asp2086=)
16g.89280155G>TCA397151251ANKRD11c.6387C>A (p.Asp2129Glu)
c.*6190C>A (n.*6190C>A)
c.745-4964C>A (n.745-4964C>A)
c.152-4964C>A
c.6285C>A (p.Asp2095Glu)
c.6090C>A (p.Asp2030Glu)
c.6258C>A (p.Asp2086Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280156T>ACA397151252ANKRD11c.6386A>T (p.Asp2129Val)
c.*6189A>T (n.*6189A>T)
c.745-4965A>T (n.745-4965A>T)
c.152-4965A>T
c.6284A>T (p.Asp2095Val)
c.6089A>T (p.Asp2030Val)
c.6257A>T (p.Asp2086Val)
 gnomAD v4
16g.89280156T>CCA8241468ANKRD11c.6386A>G (p.Asp2129Gly)
c.*6189A>G (n.*6189A>G)
c.745-4965A>G (n.745-4965A>G)
c.152-4965A>G
c.6284A>G (p.Asp2095Gly)
c.6089A>G (p.Asp2030Gly)
c.6257A>G (p.Asp2086Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280156T>GCA397151253ANKRD11c.6386A>C (p.Asp2129Ala)
c.*6189A>C (n.*6189A>C)
c.745-4965A>C (n.745-4965A>C)
c.152-4965A>C
c.6284A>C (p.Asp2095Ala)
c.6089A>C (p.Asp2030Ala)
c.6257A>C (p.Asp2086Ala)
16g.89280156T=CA2241587207ANKRD11c.6386A= (p.Asp2129=)
c.*6189A= (n.*6189A=)
c.745-4965A= (n.745-4965A=)
c.152-4965A=
c.6284A= (p.Asp2095=)
c.6089A= (p.Asp2030=)
c.6257A= (p.Asp2086=)
16g.89280157C>ACA397151254ANKRD11c.6385G>T (p.Asp2129Tyr)
c.*6188G>T (n.*6188G>T)
c.745-4966G>T (n.745-4966G>T)
c.152-4966G>T
c.6283G>T (p.Asp2095Tyr)
c.6088G>T (p.Asp2030Tyr)
c.6256G>T (p.Asp2086Tyr)
16g.89280157C>GCA397151255ANKRD11c.6385G>C (p.Asp2129His)
c.*6188G>C (n.*6188G>C)
c.745-4966G>C (n.745-4966G>C)
c.152-4966G>C
c.6283G>C (p.Asp2095His)
c.6088G>C (p.Asp2030His)
c.6256G>C (p.Asp2086His)
16g.89280157C>TCA397151256ANKRD11c.6385G>A (p.Asp2129Asn)
c.*6188G>A (n.*6188G>A)
c.745-4966G>A (n.745-4966G>A)
c.152-4966G>A
c.6283G>A (p.Asp2095Asn)
c.6088G>A (p.Asp2030Asn)
c.6256G>A (p.Asp2086Asn)
16g.89280158C>ACA397151257ANKRD11c.6384G>T (p.Glu2128Asp)
c.*6187G>T (n.*6187G>T)
c.745-4967G>T (n.745-4967G>T)
c.152-4967G>T
c.6282G>T (p.Glu2094Asp)
c.6087G>T (p.Glu2029Asp)
c.6255G>T (p.Glu2085Asp)
16g.89280158C=CA2241587208ANKRD11c.6384G= (p.Glu2128=)
c.*6187G= (n.*6187G=)
c.745-4967G= (n.745-4967G=)
c.152-4967G=
c.6282G= (p.Glu2094=)
c.6087G= (p.Glu2029=)
c.6255G= (p.Glu2085=)
16g.89280158C>GCA397151258ANKRD11c.6384G>C (p.Glu2128Asp)
c.*6187G>C (n.*6187G>C)
c.745-4967G>C (n.745-4967G>C)
c.152-4967G>C
c.6282G>C (p.Glu2094Asp)
c.6087G>C (p.Glu2029Asp)
c.6255G>C (p.Glu2085Asp)
16g.89280158C>TCA497373332ANKRD11c.6384G>A (p.Glu2128=)
c.*6187G>A (n.*6187G>A)
c.745-4967G>A (n.745-4967G>A)
c.152-4967G>A
c.6282G>A (p.Glu2094=)
c.6087G>A (p.Glu2029=)
c.6255G>A (p.Glu2085=)
 dbSNP gnomAD v2
16g.89280159T>ACA397151259ANKRD11c.6383A>T (p.Glu2128Val)
c.*6186A>T (n.*6186A>T)
c.745-4968A>T (n.745-4968A>T)
c.152-4968A>T
c.6281A>T (p.Glu2094Val)
c.6086A>T (p.Glu2029Val)
c.6254A>T (p.Glu2085Val)
16g.89280159T>CCA397151260ANKRD11c.6383A>G (p.Glu2128Gly)
c.*6186A>G (n.*6186A>G)
c.745-4968A>G (n.745-4968A>G)
c.152-4968A>G
c.6281A>G (p.Glu2094Gly)
c.6086A>G (p.Glu2029Gly)
c.6254A>G (p.Glu2085Gly)
 gnomAD v4
16g.89280159T>GCA397151261ANKRD11c.6383A>C (p.Glu2128Ala)
c.*6186A>C (n.*6186A>C)
c.745-4968A>C (n.745-4968A>C)
c.152-4968A>C
c.6281A>C (p.Glu2094Ala)
c.6086A>C (p.Glu2029Ala)
c.6254A>C (p.Glu2085Ala)
16g.89280160C>ACA397151262ANKRD11c.6382G>T (p.Glu2128Ter)
c.*6185G>T (n.*6185G>T)
c.745-4969G>T (n.745-4969G>T)
c.152-4969G>T
c.6280G>T (p.Glu2094Ter)
c.6085G>T (p.Glu2029Ter)
c.6253G>T (p.Glu2085Ter)
 gnomAD v4
16g.89280160C>GCA397151263ANKRD11c.6382G>C (p.Glu2128Gln)
c.*6185G>C (n.*6185G>C)
c.745-4969G>C (n.745-4969G>C)
c.152-4969G>C
c.6280G>C (p.Glu2094Gln)
c.6085G>C (p.Glu2029Gln)
c.6253G>C (p.Glu2085Gln)
16g.89280160C>TCA397151264ANKRD11c.6382G>A (p.Glu2128Lys)
c.*6185G>A (n.*6185G>A)
c.745-4969G>A (n.745-4969G>A)
c.152-4969G>A
c.6280G>A (p.Glu2094Lys)
c.6085G>A (p.Glu2029Lys)
c.6253G>A (p.Glu2085Lys)
 gnomAD v4
16g.89280161G>ACA497373339ANKRD11c.6381C>T (p.Pro2127=)
c.*6184C>T (n.*6184C>T)
c.745-4970C>T (n.745-4970C>T)
c.152-4970C>T
c.6279C>T (p.Pro2093=)
c.6084C>T (p.Pro2028=)
c.6252C>T (p.Pro2084=)
 dbSNP gnomAD v2 gnomAD v4
16g.89280161G>CCA497373340ANKRD11c.6381C>G (p.Pro2127=)
c.*6184C>G (n.*6184C>G)
c.745-4970C>G (n.745-4970C>G)
c.152-4970C>G
c.6279C>G (p.Pro2093=)
c.6084C>G (p.Pro2028=)
c.6252C>G (p.Pro2084=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280161G=CA2241587209ANKRD11c.6381C= (p.Pro2127=)
c.*6184C= (n.*6184C=)
c.745-4970C= (n.745-4970C=)
c.152-4970C=
c.6279C= (p.Pro2093=)
c.6084C= (p.Pro2028=)
c.6252C= (p.Pro2084=)
16g.89280161G>TCA497373341ANKRD11c.6381C>A (p.Pro2127=)
c.*6184C>A (n.*6184C>A)
c.745-4970C>A (n.745-4970C>A)
c.152-4970C>A
c.6279C>A (p.Pro2093=)
c.6084C>A (p.Pro2028=)
c.6252C>A (p.Pro2084=)
 dbSNP gnomAD v4
16g.89280162G>ACA397151265ANKRD11c.6380C>T (p.Pro2127Leu)
c.*6183C>T (n.*6183C>T)
c.745-4971C>T (n.745-4971C>T)
c.152-4971C>T
c.6278C>T (p.Pro2093Leu)
c.6083C>T (p.Pro2028Leu)
c.6251C>T (p.Pro2084Leu)
16g.89280162G>CCA397151267ANKRD11c.6380C>G (p.Pro2127Arg)
c.*6183C>G (n.*6183C>G)
c.745-4971C>G (n.745-4971C>G)
c.152-4971C>G
c.6278C>G (p.Pro2093Arg)
c.6083C>G (p.Pro2028Arg)
c.6251C>G (p.Pro2084Arg)
16g.89280162G>TCA397151266ANKRD11c.6380C>A (p.Pro2127His)
c.*6183C>A (n.*6183C>A)
c.745-4971C>A (n.745-4971C>A)
c.152-4971C>A
c.6278C>A (p.Pro2093His)
c.6083C>A (p.Pro2028His)
c.6251C>A (p.Pro2084His)
 gnomAD v4
16g.89280171_89280172insCAGGGCCGGCGACA980390266ANKRD11c.6380_6381insTGTCGCCGGCCC (p.Pro2127_Glu2128insValAlaGlyPro)
c.*6183_*6184insTGTCGCCGGCCC (n.*6183_*6184insTGTCGCCGGCCC)
c.745-4971_745-4970insTGTCGCCGGCCC (n.745-4971_745-4970insTGTCGCCGGCCC)
c.152-4971_152-4970insTGTCGCCGGCCC
c.6278_6279insTGTCGCCGGCCC (p.Pro2093_Glu2094insValAlaGlyPro)
c.6083_6084insTGTCGCCGGCCC (p.Pro2028_Glu2029insValAlaGlyPro)
c.6251_6252insTGTCGCCGGCCC (p.Pro2084_Glu2085insValAlaGlyPro)
 dbSNP gnomAD v3 gnomAD v4
16g.89280163G>ACA397151268ANKRD11c.6379C>T (p.Pro2127Ser)
c.*6182C>T (n.*6182C>T)
c.745-4972C>T (n.745-4972C>T)
c.152-4972C>T
c.6277C>T (p.Pro2093Ser)
c.6082C>T (p.Pro2028Ser)
c.6250C>T (p.Pro2084Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.89280163G>CCA397151270ANKRD11c.6379C>G (p.Pro2127Ala)
c.*6182C>G (n.*6182C>G)
c.745-4972C>G (n.745-4972C>G)
c.152-4972C>G
c.6277C>G (p.Pro2093Ala)
c.6082C>G (p.Pro2028Ala)
c.6250C>G (p.Pro2084Ala)
16g.89280163G=CA2241587210ANKRD11c.6379C= (p.Pro2127=)
c.*6182C= (n.*6182C=)
c.745-4972C= (n.745-4972C=)
c.152-4972C=
c.6277C= (p.Pro2093=)
c.6082C= (p.Pro2028=)
c.6250C= (p.Pro2084=)
16g.89280163G>TCA397151269ANKRD11c.6379C>A (p.Pro2127Thr)
c.*6182C>A (n.*6182C>A)
c.745-4972C>A (n.745-4972C>A)
c.152-4972C>A
c.6277C>A (p.Pro2093Thr)
c.6082C>A (p.Pro2028Thr)
c.6250C>A (p.Pro2084Thr)
 dbSNP gnomAD v4
16g.89280164G>ACA497373344ANKRD11c.6378C>T (p.Gly2126=)
c.*6181C>T (n.*6181C>T)
c.745-4973C>T (n.745-4973C>T)
c.152-4973C>T
c.6276C>T (p.Gly2092=)
c.6081C>T (p.Gly2027=)
c.6249C>T (p.Gly2083=)
16g.89280164G>CCA497373345ANKRD11c.6378C>G (p.Gly2126=)
c.*6181C>G (n.*6181C>G)
c.745-4973C>G (n.745-4973C>G)
c.152-4973C>G
c.6276C>G (p.Gly2092=)
c.6081C>G (p.Gly2027=)
c.6249C>G (p.Gly2083=)
16g.89280164G>TCA497373346ANKRD11c.6378C>A (p.Gly2126=)
c.*6181C>A (n.*6181C>A)
c.745-4973C>A (n.745-4973C>A)
c.152-4973C>A
c.6276C>A (p.Gly2092=)
c.6081C>A (p.Gly2027=)
c.6249C>A (p.Gly2083=)
 gnomAD v4
16g.89280165C>ACA8241470ANKRD11c.6377G>T (p.Gly2126Val)
c.*6180G>T (n.*6180G>T)
c.745-4974G>T (n.745-4974G>T)
c.152-4974G>T
c.6275G>T (p.Gly2092Val)
c.6080G>T (p.Gly2027Val)
c.6248G>T (p.Gly2083Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280165C=CA2241587211ANKRD11c.6377G= (p.Gly2126=)
c.*6180G= (n.*6180G=)
c.745-4974G= (n.745-4974G=)
c.152-4974G=
c.6275G= (p.Gly2092=)
c.6080G= (p.Gly2027=)
c.6248G= (p.Gly2083=)
16g.89280165C>GCA397151271ANKRD11c.6377G>C (p.Gly2126Ala)
c.*6180G>C (n.*6180G>C)
c.745-4974G>C (n.745-4974G>C)
c.152-4974G>C
c.6275G>C (p.Gly2092Ala)
c.6080G>C (p.Gly2027Ala)
c.6248G>C (p.Gly2083Ala)
 ClinVar dbSNP gnomAD v4
16g.89280165C>TCA8241469ANKRD11c.6377G>A (p.Gly2126Asp)
c.*6180G>A (n.*6180G>A)
c.745-4974G>A (n.745-4974G>A)
c.152-4974G>A
c.6275G>A (p.Gly2092Asp)
c.6080G>A (p.Gly2027Asp)
c.6248G>A (p.Gly2083Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280166C>ACA397151272ANKRD11c.6376G>T (p.Gly2126Cys)
c.*6179G>T (n.*6179G>T)
c.745-4975G>T (n.745-4975G>T)
c.152-4975G>T
c.6274G>T (p.Gly2092Cys)
c.6079G>T (p.Gly2027Cys)
c.6247G>T (p.Gly2083Cys)
16g.89280166C=CA2241587212ANKRD11c.6376G= (p.Gly2126=)
c.*6179G= (n.*6179G=)
c.745-4975G= (n.745-4975G=)
c.152-4975G=
c.6274G= (p.Gly2092=)
c.6079G= (p.Gly2027=)
c.6247G= (p.Gly2083=)
16g.89280166C>GCA397151273ANKRD11c.6376G>C (p.Gly2126Arg)
c.*6179G>C (n.*6179G>C)
c.745-4975G>C (n.745-4975G>C)
c.152-4975G>C
c.6274G>C (p.Gly2092Arg)
c.6079G>C (p.Gly2027Arg)
c.6247G>C (p.Gly2083Arg)
16g.89280166C>TCA8241471ANKRD11c.6376G>A (p.Gly2126Ser)
c.*6179G>A (n.*6179G>A)
c.745-4975G>A (n.745-4975G>A)
c.152-4975G>A
c.6274G>A (p.Gly2092Ser)
c.6079G>A (p.Gly2027Ser)
c.6247G>A (p.Gly2083Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280167G>ACA8241472ANKRD11c.6375C>T (p.Ala2125=)
c.*6178C>T (n.*6178C>T)
c.745-4976C>T (n.745-4976C>T)
c.152-4976C>T
c.6273C>T (p.Ala2091=)
c.6078C>T (p.Ala2026=)
c.6246C>T (p.Ala2082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280167G>CCA8241473ANKRD11c.6375C>G (p.Ala2125=)
c.*6178C>G (n.*6178C>G)
c.745-4976C>G (n.745-4976C>G)
c.152-4976C>G
c.6273C>G (p.Ala2091=)
c.6078C>G (p.Ala2026=)
c.6246C>G (p.Ala2082=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280167G=CA2241587213ANKRD11c.6375C= (p.Ala2125=)
c.*6178C= (n.*6178C=)
c.745-4976C= (n.745-4976C=)
c.152-4976C=
c.6273C= (p.Ala2091=)
c.6078C= (p.Ala2026=)
c.6246C= (p.Ala2082=)
16g.89280167G>TCA497373352ANKRD11c.6375C>A (p.Ala2125=)
c.*6178C>A (n.*6178C>A)
c.745-4976C>A (n.745-4976C>A)
c.152-4976C>A
c.6273C>A (p.Ala2091=)
c.6078C>A (p.Ala2026=)
c.6246C>A (p.Ala2082=)
 dbSNP gnomAD v4
16g.89280168G>ACA8241474ANKRD11c.6374C>T (p.Ala2125Val)
c.*6177C>T (n.*6177C>T)
c.745-4977C>T (n.745-4977C>T)
c.152-4977C>T
c.6272C>T (p.Ala2091Val)
c.6077C>T (p.Ala2026Val)
c.6245C>T (p.Ala2082Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280168G>CCA8241475ANKRD11c.6374C>G (p.Ala2125Gly)
c.*6177C>G (n.*6177C>G)
c.745-4977C>G (n.745-4977C>G)
c.152-4977C>G
c.6272C>G (p.Ala2091Gly)
c.6077C>G (p.Ala2026Gly)
c.6245C>G (p.Ala2082Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280168G=CA2241587214ANKRD11c.6374C= (p.Ala2125=)
c.*6177C= (n.*6177C=)
c.745-4977C= (n.745-4977C=)
c.152-4977C=
c.6272C= (p.Ala2091=)
c.6077C= (p.Ala2026=)
c.6245C= (p.Ala2082=)
16g.89280168G>TCA397151274ANKRD11c.6374C>A (p.Ala2125Asp)
c.*6177C>A (n.*6177C>A)
c.745-4977C>A (n.745-4977C>A)
c.152-4977C>A
c.6272C>A (p.Ala2091Asp)
c.6077C>A (p.Ala2026Asp)
c.6245C>A (p.Ala2082Asp)
 gnomAD v4
16g.89280169C>ACA286510304ANKRD11c.6373G>T (p.Ala2125Ser)
c.*6176G>T (n.*6176G>T)
c.745-4978G>T (n.745-4978G>T)
c.152-4978G>T
c.6271G>T (p.Ala2091Ser)
c.6076G>T (p.Ala2026Ser)
c.6244G>T (p.Ala2082Ser)
 dbSNP gnomAD v4
16g.89280169C=CA2241587215ANKRD11c.6373G= (p.Ala2125=)
c.*6176G= (n.*6176G=)
c.745-4978G= (n.745-4978G=)
c.152-4978G=
c.6271G= (p.Ala2091=)
c.6076G= (p.Ala2026=)
c.6244G= (p.Ala2082=)
16g.89280169C>GCA8241476ANKRD11c.6373G>C (p.Ala2125Pro)
c.*6176G>C (n.*6176G>C)
c.745-4978G>C (n.745-4978G>C)
c.152-4978G>C
c.6271G>C (p.Ala2091Pro)
c.6076G>C (p.Ala2026Pro)
c.6244G>C (p.Ala2082Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280169C>TCA8241477ANKRD11c.6373G>A (p.Ala2125Thr)
c.*6176G>A (n.*6176G>A)
c.745-4978G>A (n.745-4978G>A)
c.152-4978G>A
c.6271G>A (p.Ala2091Thr)
c.6076G>A (p.Ala2026Thr)
c.6244G>A (p.Ala2082Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280170G>ACA8241478ANKRD11c.6372C>T (p.Phe2124=)
c.*6175C>T (n.*6175C>T)
c.745-4979C>T (n.745-4979C>T)
c.152-4979C>T
c.6270C>T (p.Phe2090=)
c.6075C>T (p.Phe2025=)
c.6243C>T (p.Phe2081=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280170G>CCA397151275ANKRD11c.6372C>G (p.Phe2124Leu)
c.*6175C>G (n.*6175C>G)
c.745-4979C>G (n.745-4979C>G)
c.152-4979C>G
c.6270C>G (p.Phe2090Leu)
c.6075C>G (p.Phe2025Leu)
c.6243C>G (p.Phe2081Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.89280170G=CA2241587216ANKRD11c.6372C= (p.Phe2124=)
c.*6175C= (n.*6175C=)
c.745-4979C= (n.745-4979C=)
c.152-4979C=
c.6270C= (p.Phe2090=)
c.6075C= (p.Phe2025=)
c.6243C= (p.Phe2081=)
16g.89280170G>TCA397151276ANKRD11c.6372C>A (p.Phe2124Leu)
c.*6175C>A (n.*6175C>A)
c.745-4979C>A (n.745-4979C>A)
c.152-4979C>A
c.6270C>A (p.Phe2090Leu)
c.6075C>A (p.Phe2025Leu)
c.6243C>A (p.Phe2081Leu)
 gnomAD v4

Number of alleles fetched