Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89280750_89280765delinsAGGTAGCTGGGCTCCGCA2241587652ANKRD11c.5777_5792delinsCGGAGCCCAGCTACCT (p.Pro1926=)
c.*5580_*5595delinsCGGAGCCCAGCTACCT (n.*5580_*5595delinsCGGAGCCCAGCTACCT)
c.745-5574_745-5559delinsCGGAGCCCAGCTACCT (n.745-5574_745-5559delinsCGGAGCCCAGCTACCT)
c.152-5574_152-5559delinsCGGAGCCCAGCTACCT
c.5675_5690delinsCGGAGCCCAGCTACCT (p.Pro1892=)
c.5480_5495delinsCGGAGCCCAGCTACCT (p.Pro1827=)
c.5648_5663delinsCGGAGCCCAGCTACCT (p.Pro1883=)
16g.89280753_89280767delCA8241720ANKRD11c.5777_5791del (p.Pro1926_Tyr1930del)
c.*5580_*5594del (n.*5580_*5594del)
c.745-5574_745-5560del (n.745-5574_745-5560del)
c.152-5574_152-5560del
c.5675_5689del (p.Pro1892_Tyr1896del)
c.5480_5494del (p.Pro1827_Tyr1831del)
c.5648_5662del (p.Pro1883_Tyr1887del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280752G>ACA497373469ANKRD11c.5790C>T (p.Tyr1930=)
c.*5593C>T (n.*5593C>T)
c.745-5561C>T (n.745-5561C>T)
c.152-5561C>T
c.5688C>T (p.Tyr1896=)
c.5493C>T (p.Tyr1831=)
c.5661C>T (p.Tyr1887=)
gnomAD v4
16g.89280752G>CCA10603349ANKRD11c.5790C>G (p.Tyr1930Ter)
c.*5593C>G (n.*5593C>G)
c.745-5561C>G (n.745-5561C>G)
c.152-5561C>G
c.5688C>G (p.Tyr1896Ter)
c.5493C>G (p.Tyr1831Ter)
c.5661C>G (p.Tyr1887Ter)
ClinVar dbSNP
16g.89280752G=CA2241587654ANKRD11c.5790C= (p.Tyr1930=)
c.*5593C= (n.*5593C=)
c.745-5561C= (n.745-5561C=)
c.152-5561C=
c.5688C= (p.Tyr1896=)
c.5493C= (p.Tyr1831=)
c.5661C= (p.Tyr1887=)
16g.89280752G>TCA397152839ANKRD11c.5790C>A (p.Tyr1930Ter)
c.*5593C>A (n.*5593C>A)
c.745-5561C>A (n.745-5561C>A)
c.152-5561C>A
c.5688C>A (p.Tyr1896Ter)
c.5493C>A (p.Tyr1831Ter)
c.5661C>A (p.Tyr1887Ter)
16g.89280753T>ACA397152842ANKRD11c.5789A>T (p.Tyr1930Phe)
c.*5592A>T (n.*5592A>T)
c.745-5562A>T (n.745-5562A>T)
c.152-5562A>T
c.5687A>T (p.Tyr1896Phe)
c.5492A>T (p.Tyr1831Phe)
c.5660A>T (p.Tyr1887Phe)
16g.89280753T>CCA397152844ANKRD11c.5789A>G (p.Tyr1930Cys)
c.*5592A>G (n.*5592A>G)
c.745-5562A>G (n.745-5562A>G)
c.152-5562A>G
c.5687A>G (p.Tyr1896Cys)
c.5492A>G (p.Tyr1831Cys)
c.5660A>G (p.Tyr1887Cys)
16g.89280753T>GCA397152846ANKRD11c.5789A>C (p.Tyr1930Ser)
c.*5592A>C (n.*5592A>C)
c.745-5562A>C (n.745-5562A>C)
c.152-5562A>C
c.5687A>C (p.Tyr1896Ser)
c.5492A>C (p.Tyr1831Ser)
c.5660A>C (p.Tyr1887Ser)
16g.89280754A>CCA397152851ANKRD11c.5788T>G (p.Tyr1930Asp)
c.*5591T>G (n.*5591T>G)
c.745-5563T>G (n.745-5563T>G)
c.152-5563T>G
c.5686T>G (p.Tyr1896Asp)
c.5491T>G (p.Tyr1831Asp)
c.5659T>G (p.Tyr1887Asp)
16g.89280754A>GCA397152848ANKRD11c.5788T>C (p.Tyr1930His)
c.*5591T>C (n.*5591T>C)
c.745-5563T>C (n.745-5563T>C)
c.152-5563T>C
c.5686T>C (p.Tyr1896His)
c.5491T>C (p.Tyr1831His)
c.5659T>C (p.Tyr1887His)
16g.89280754A>TCA397152849ANKRD11c.5788T>A (p.Tyr1930Asn)
c.*5591T>A (n.*5591T>A)
c.745-5563T>A (n.745-5563T>A)
c.152-5563T>A
c.5686T>A (p.Tyr1896Asn)
c.5491T>A (p.Tyr1831Asn)
c.5659T>A (p.Tyr1887Asn)
16g.89280755G>ACA497373471ANKRD11c.5787C>T (p.Ser1929=)
c.*5590C>T (n.*5590C>T)
c.745-5564C>T (n.745-5564C>T)
c.152-5564C>T
c.5685C>T (p.Ser1895=)
c.5490C>T (p.Ser1830=)
c.5658C>T (p.Ser1886=)
dbSNP gnomAD v3 gnomAD v4
16g.89280755G>CCA397152853ANKRD11c.5787C>G (p.Ser1929Arg)
c.*5590C>G (n.*5590C>G)
c.745-5564C>G (n.745-5564C>G)
c.152-5564C>G
c.5685C>G (p.Ser1895Arg)
c.5490C>G (p.Ser1830Arg)
c.5658C>G (p.Ser1886Arg)
gnomAD v4
16g.89280755G=CA2241587655ANKRD11c.5787C= (p.Ser1929=)
c.*5590C= (n.*5590C=)
c.745-5564C= (n.745-5564C=)
c.152-5564C=
c.5685C= (p.Ser1895=)
c.5490C= (p.Ser1830=)
c.5658C= (p.Ser1886=)
16g.89280755G>TCA397152854ANKRD11c.5787C>A (p.Ser1929Arg)
c.*5590C>A (n.*5590C>A)
c.745-5564C>A (n.745-5564C>A)
c.152-5564C>A
c.5685C>A (p.Ser1895Arg)
c.5490C>A (p.Ser1830Arg)
c.5658C>A (p.Ser1886Arg)
16g.89280756C>ACA397152857ANKRD11c.5786G>T (p.Ser1929Ile)
c.*5589G>T (n.*5589G>T)
c.745-5565G>T (n.745-5565G>T)
c.152-5565G>T
c.5684G>T (p.Ser1895Ile)
c.5489G>T (p.Ser1830Ile)
c.5657G>T (p.Ser1886Ile)
16g.89280756C=CA2241587656ANKRD11c.5786G= (p.Ser1929=)
c.*5589G= (n.*5589G=)
c.745-5565G= (n.745-5565G=)
c.152-5565G=
c.5684G= (p.Ser1895=)
c.5489G= (p.Ser1830=)
c.5657G= (p.Ser1886=)
16g.89280756C>GCA397152859ANKRD11c.5786G>C (p.Ser1929Thr)
c.*5589G>C (n.*5589G>C)
c.745-5565G>C (n.745-5565G>C)
c.152-5565G>C
c.5684G>C (p.Ser1895Thr)
c.5489G>C (p.Ser1830Thr)
c.5657G>C (p.Ser1886Thr)
16g.89280756C>TCA397152860ANKRD11c.5786G>A (p.Ser1929Asn)
c.*5589G>A (n.*5589G>A)
c.745-5565G>A (n.745-5565G>A)
c.152-5565G>A
c.5684G>A (p.Ser1895Asn)
c.5489G>A (p.Ser1830Asn)
c.5657G>A (p.Ser1886Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280757T>ACA397152861ANKRD11c.5785A>T (p.Ser1929Cys)
c.*5588A>T (n.*5588A>T)
c.745-5566A>T (n.745-5566A>T)
c.152-5566A>T
c.5683A>T (p.Ser1895Cys)
c.5488A>T (p.Ser1830Cys)
c.5656A>T (p.Ser1886Cys)
16g.89280757T>CCA397152862ANKRD11c.5785A>G (p.Ser1929Gly)
c.*5588A>G (n.*5588A>G)
c.745-5566A>G (n.745-5566A>G)
c.152-5566A>G
c.5683A>G (p.Ser1895Gly)
c.5488A>G (p.Ser1830Gly)
c.5656A>G (p.Ser1886Gly)
16g.89280757T>GCA397152864ANKRD11c.5785A>C (p.Ser1929Arg)
c.*5588A>C (n.*5588A>C)
c.745-5566A>C (n.745-5566A>C)
c.152-5566A>C
c.5683A>C (p.Ser1895Arg)
c.5488A>C (p.Ser1830Arg)
c.5656A>C (p.Ser1886Arg)
16g.89280757_89280759delCA2634942997ANKRD11c.5783_5785del (p.Pro1928_Ser1929delinsArg)
c.*5586_*5588del (n.*5586_*5588del)
c.745-5568_745-5566del (n.745-5568_745-5566del)
c.152-5568_152-5566del
c.5681_5683del (p.Pro1894_Ser1895delinsArg)
c.5486_5488del (p.Pro1829_Ser1830delinsArg)
c.5654_5656del (p.Pro1885_Ser1886delinsArg)
gnomAD v4
16g.89280758G>ACA497373475ANKRD11c.5784C>T (p.Pro1928=)
c.*5587C>T (n.*5587C>T)
c.745-5567C>T (n.745-5567C>T)
c.152-5567C>T
c.5682C>T (p.Pro1894=)
c.5487C>T (p.Pro1829=)
c.5655C>T (p.Pro1885=)
16g.89280758G>CCA497373476ANKRD11c.5784C>G (p.Pro1928=)
c.*5587C>G (n.*5587C>G)
c.745-5567C>G (n.745-5567C>G)
c.152-5567C>G
c.5682C>G (p.Pro1894=)
c.5487C>G (p.Pro1829=)
c.5655C>G (p.Pro1885=)
16g.89280758G>TCA497373473ANKRD11c.5784C>A (p.Pro1928=)
c.*5587C>A (n.*5587C>A)
c.745-5567C>A (n.745-5567C>A)
c.152-5567C>A
c.5682C>A (p.Pro1894=)
c.5487C>A (p.Pro1829=)
c.5655C>A (p.Pro1885=)
16g.89280759G>ACA8241721ANKRD11c.5783C>T (p.Pro1928Leu)
c.*5586C>T (n.*5586C>T)
c.745-5568C>T (n.745-5568C>T)
c.152-5568C>T
c.5681C>T (p.Pro1894Leu)
c.5486C>T (p.Pro1829Leu)
c.5654C>T (p.Pro1885Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280759G>CCA397152867ANKRD11c.5783C>G (p.Pro1928Arg)
c.*5586C>G (n.*5586C>G)
c.745-5568C>G (n.745-5568C>G)
c.152-5568C>G
c.5681C>G (p.Pro1894Arg)
c.5486C>G (p.Pro1829Arg)
c.5654C>G (p.Pro1885Arg)
16g.89280759G=CA2241587657ANKRD11c.5783C= (p.Pro1928=)
c.*5586C= (n.*5586C=)
c.745-5568C= (n.745-5568C=)
c.152-5568C=
c.5681C= (p.Pro1894=)
c.5486C= (p.Pro1829=)
c.5654C= (p.Pro1885=)
16g.89280759G>TCA397152869ANKRD11c.5783C>A (p.Pro1928His)
c.*5586C>A (n.*5586C>A)
c.745-5568C>A (n.745-5568C>A)
c.152-5568C>A
c.5681C>A (p.Pro1894His)
c.5486C>A (p.Pro1829His)
c.5654C>A (p.Pro1885His)
16g.89280760G>ACA397152872ANKRD11c.5782C>T (p.Pro1928Ser)
c.*5585C>T (n.*5585C>T)
c.745-5569C>T (n.745-5569C>T)
c.152-5569C>T
c.5680C>T (p.Pro1894Ser)
c.5485C>T (p.Pro1829Ser)
c.5653C>T (p.Pro1885Ser)
gnomAD v4
16g.89280760G>CCA397152874ANKRD11c.5782C>G (p.Pro1928Ala)
c.*5585C>G (n.*5585C>G)
c.745-5569C>G (n.745-5569C>G)
c.152-5569C>G
c.5680C>G (p.Pro1894Ala)
c.5485C>G (p.Pro1829Ala)
c.5653C>G (p.Pro1885Ala)
gnomAD v4
16g.89280760G>TCA397152871ANKRD11c.5782C>A (p.Pro1928Thr)
c.*5585C>A (n.*5585C>A)
c.745-5569C>A (n.745-5569C>A)
c.152-5569C>A
c.5680C>A (p.Pro1894Thr)
c.5485C>A (p.Pro1829Thr)
c.5653C>A (p.Pro1885Thr)
16g.89280761C>ACA397152876ANKRD11c.5781G>T (p.Glu1927Asp)
c.*5584G>T (n.*5584G>T)
c.745-5570G>T (n.745-5570G>T)
c.152-5570G>T
c.5679G>T (p.Glu1893Asp)
c.5484G>T (p.Glu1828Asp)
c.5652G>T (p.Glu1884Asp)
16g.89280761C>GCA397152878ANKRD11c.5781G>C (p.Glu1927Asp)
c.*5584G>C (n.*5584G>C)
c.745-5570G>C (n.745-5570G>C)
c.152-5570G>C
c.5679G>C (p.Glu1893Asp)
c.5484G>C (p.Glu1828Asp)
c.5652G>C (p.Glu1884Asp)
gnomAD v4
16g.89280761C>TCA497373478ANKRD11c.5781G>A (p.Glu1927=)
c.*5584G>A (n.*5584G>A)
c.745-5570G>A (n.745-5570G>A)
c.152-5570G>A
c.5679G>A (p.Glu1893=)
c.5484G>A (p.Glu1828=)
c.5652G>A (p.Glu1884=)
gnomAD v4
16g.89280762T>ACA397152880ANKRD11c.5780A>T (p.Glu1927Val)
c.*5583A>T (n.*5583A>T)
c.745-5571A>T (n.745-5571A>T)
c.152-5571A>T
c.5678A>T (p.Glu1893Val)
c.5483A>T (p.Glu1828Val)
c.5651A>T (p.Glu1884Val)
16g.89280762T>CCA397152882ANKRD11c.5780A>G (p.Glu1927Gly)
c.*5583A>G (n.*5583A>G)
c.745-5571A>G (n.745-5571A>G)
c.152-5571A>G
c.5678A>G (p.Glu1893Gly)
c.5483A>G (p.Glu1828Gly)
c.5651A>G (p.Glu1884Gly)
16g.89280762T>GCA397152884ANKRD11c.5780A>C (p.Glu1927Ala)
c.*5583A>C (n.*5583A>C)
c.745-5571A>C (n.745-5571A>C)
c.152-5571A>C
c.5678A>C (p.Glu1893Ala)
c.5483A>C (p.Glu1828Ala)
c.5651A>C (p.Glu1884Ala)
16g.89280763C>ACA397152887ANKRD11c.5779G>T (p.Glu1927Ter)
c.*5582G>T (n.*5582G>T)
c.745-5572G>T (n.745-5572G>T)
c.152-5572G>T
c.5677G>T (p.Glu1893Ter)
c.5482G>T (p.Glu1828Ter)
c.5650G>T (p.Glu1884Ter)
16g.89280763C>GCA397152888ANKRD11c.5779G>C (p.Glu1927Gln)
c.*5582G>C (n.*5582G>C)
c.745-5572G>C (n.745-5572G>C)
c.152-5572G>C
c.5677G>C (p.Glu1893Gln)
c.5482G>C (p.Glu1828Gln)
c.5650G>C (p.Glu1884Gln)
ClinVar gnomAD v4
16g.89280763C>TCA397152891ANKRD11c.5779G>A (p.Glu1927Lys)
c.*5582G>A (n.*5582G>A)
c.745-5572G>A (n.745-5572G>A)
c.152-5572G>A
c.5677G>A (p.Glu1893Lys)
c.5482G>A (p.Glu1828Lys)
c.5650G>A (p.Glu1884Lys)
16g.89280764C>ACA497373500ANKRD11c.5778G>T (p.Pro1926=)
c.*5581G>T (n.*5581G>T)
c.745-5573G>T (n.745-5573G>T)
c.152-5573G>T
c.5676G>T (p.Pro1892=)
c.5481G>T (p.Pro1827=)
c.5649G>T (p.Pro1883=)
16g.89280764C=CA2241587658ANKRD11c.5778G= (p.Pro1926=)
c.*5581G= (n.*5581G=)
c.745-5573G= (n.745-5573G=)
c.152-5573G=
c.5676G= (p.Pro1892=)
c.5481G= (p.Pro1827=)
c.5649G= (p.Pro1883=)
16g.89280764C>GCA497373501ANKRD11c.5778G>C (p.Pro1926=)
c.*5581G>C (n.*5581G>C)
c.745-5573G>C (n.745-5573G>C)
c.152-5573G>C
c.5676G>C (p.Pro1892=)
c.5481G>C (p.Pro1827=)
c.5649G>C (p.Pro1883=)
16g.89280764C>TCA8241722ANKRD11c.5778G>A (p.Pro1926=)
c.*5581G>A (n.*5581G>A)
c.745-5573G>A (n.745-5573G>A)
c.152-5573G>A
c.5676G>A (p.Pro1892=)
c.5481G>A (p.Pro1827=)
c.5649G>A (p.Pro1883=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280765G>ACA8241723ANKRD11c.5777C>T (p.Pro1926Leu)
c.*5580C>T (n.*5580C>T)
c.745-5574C>T (n.745-5574C>T)
c.152-5574C>T
c.5675C>T (p.Pro1892Leu)
c.5480C>T (p.Pro1827Leu)
c.5648C>T (p.Pro1883Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280765G>CCA397153070ANKRD11c.5777C>G (p.Pro1926Arg)
c.*5580C>G (n.*5580C>G)
c.745-5574C>G (n.745-5574C>G)
c.152-5574C>G
c.5675C>G (p.Pro1892Arg)
c.5480C>G (p.Pro1827Arg)
c.5648C>G (p.Pro1883Arg)
dbSNP gnomAD v3 gnomAD v4
16g.89280765G=CA2241587659ANKRD11c.5777C= (p.Pro1926=)
c.*5580C= (n.*5580C=)
c.745-5574C= (n.745-5574C=)
c.152-5574C=
c.5675C= (p.Pro1892=)
c.5480C= (p.Pro1827=)
c.5648C= (p.Pro1883=)
16g.89280765G>TCA397153071ANKRD11c.5777C>A (p.Pro1926Gln)
c.*5580C>A (n.*5580C>A)
c.745-5574C>A (n.745-5574C>A)
c.152-5574C>A
c.5675C>A (p.Pro1892Gln)
c.5480C>A (p.Pro1827Gln)
c.5648C>A (p.Pro1883Gln)
16g.89280770dupCA624452384ANKRD11c.5777dup (p.Glu1927GlyfsTer23)
c.*5580dup (n.*5580dup)
c.745-5574dup (n.745-5574dup)
c.152-5574dup
c.5675dup (p.Glu1893GlyfsTer23)
c.5480dup (p.Glu1828GlyfsTer23)
c.5648dup (p.Glu1884GlyfsTer23)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280770delCA2634943012ANKRD11c.5777del (p.Pro1926ArgfsTer?)
c.*5580del (n.*5580del)
c.745-5574del (n.745-5574del)
c.152-5574del
c.5675del (p.Pro1892ArgfsTer?)
c.5480del (p.Pro1827ArgfsTer?)
c.5648del (p.Pro1883ArgfsTer?)
gnomAD v4
16g.89280766G>ACA397153073ANKRD11c.5776C>T (p.Pro1926Ser)
c.*5579C>T (n.*5579C>T)
c.745-5575C>T (n.745-5575C>T)
c.152-5575C>T
c.5674C>T (p.Pro1892Ser)
c.5479C>T (p.Pro1827Ser)
c.5647C>T (p.Pro1883Ser)
16g.89280766G>CCA397153074ANKRD11c.5776C>G (p.Pro1926Ala)
c.*5579C>G (n.*5579C>G)
c.745-5575C>G (n.745-5575C>G)
c.152-5575C>G
c.5674C>G (p.Pro1892Ala)
c.5479C>G (p.Pro1827Ala)
c.5647C>G (p.Pro1883Ala)
16g.89280766G>TCA397153072ANKRD11c.5776C>A (p.Pro1926Thr)
c.*5579C>A (n.*5579C>A)
c.745-5575C>A (n.745-5575C>A)
c.152-5575C>A
c.5674C>A (p.Pro1892Thr)
c.5479C>A (p.Pro1827Thr)
c.5647C>A (p.Pro1883Thr)
16g.89280767G>ACA497373502ANKRD11c.5775C>T (p.Pro1925=)
c.*5578C>T (n.*5578C>T)
c.745-5576C>T (n.745-5576C>T)
c.152-5576C>T
c.5673C>T (p.Pro1891=)
c.5478C>T (p.Pro1826=)
c.5646C>T (p.Pro1882=)
dbSNP gnomAD v2 gnomAD v4
16g.89280767G>CCA497373503ANKRD11c.5775C>G (p.Pro1925=)
c.*5578C>G (n.*5578C>G)
c.745-5576C>G (n.745-5576C>G)
c.152-5576C>G
c.5673C>G (p.Pro1891=)
c.5478C>G (p.Pro1826=)
c.5646C>G (p.Pro1882=)
16g.89280767G=CA2241587660ANKRD11c.5775C= (p.Pro1925=)
c.*5578C= (n.*5578C=)
c.745-5576C= (n.745-5576C=)
c.152-5576C=
c.5673C= (p.Pro1891=)
c.5478C= (p.Pro1826=)
c.5646C= (p.Pro1882=)
16g.89280767G>TCA497373504ANKRD11c.5775C>A (p.Pro1925=)
c.*5578C>A (n.*5578C>A)
c.745-5576C>A (n.745-5576C>A)
c.152-5576C>A
c.5673C>A (p.Pro1891=)
c.5478C>A (p.Pro1826=)
c.5646C>A (p.Pro1882=)
dbSNP gnomAD v3 gnomAD v4
16g.89280768G>ACA397153075ANKRD11c.5774C>T (p.Pro1925Leu)
c.*5577C>T (n.*5577C>T)
c.745-5577C>T (n.745-5577C>T)
c.152-5577C>T
c.5672C>T (p.Pro1891Leu)
c.5477C>T (p.Pro1826Leu)
c.5645C>T (p.Pro1882Leu)
16g.89280768G>CCA397153076ANKRD11c.5774C>G (p.Pro1925Arg)
c.*5577C>G (n.*5577C>G)
c.745-5577C>G (n.745-5577C>G)
c.152-5577C>G
c.5672C>G (p.Pro1891Arg)
c.5477C>G (p.Pro1826Arg)
c.5645C>G (p.Pro1882Arg)
gnomAD v4
16g.89280768G>TCA397153077ANKRD11c.5774C>A (p.Pro1925His)
c.*5577C>A (n.*5577C>A)
c.745-5577C>A (n.745-5577C>A)
c.152-5577C>A
c.5672C>A (p.Pro1891His)
c.5477C>A (p.Pro1826His)
c.5645C>A (p.Pro1882His)
16g.89280769G>ACA8241725ANKRD11c.5773C>T (p.Pro1925Ser)
c.*5576C>T (n.*5576C>T)
c.745-5578C>T (n.745-5578C>T)
c.152-5578C>T
c.5671C>T (p.Pro1891Ser)
c.5476C>T (p.Pro1826Ser)
c.5644C>T (p.Pro1882Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280769G>CCA397153078ANKRD11c.5773C>G (p.Pro1925Ala)
c.*5576C>G (n.*5576C>G)
c.745-5578C>G (n.745-5578C>G)
c.152-5578C>G
c.5671C>G (p.Pro1891Ala)
c.5476C>G (p.Pro1826Ala)
c.5644C>G (p.Pro1882Ala)
gnomAD v4
16g.89280769G=CA2241587661ANKRD11c.5773C= (p.Pro1925=)
c.*5576C= (n.*5576C=)
c.745-5578C= (n.745-5578C=)
c.152-5578C=
c.5671C= (p.Pro1891=)
c.5476C= (p.Pro1826=)
c.5644C= (p.Pro1882=)
16g.89280769G>TCA8241724ANKRD11c.5773C>A (p.Pro1925Thr)
c.*5576C>A (n.*5576C>A)
c.745-5578C>A (n.745-5578C>A)
c.152-5578C>A
c.5671C>A (p.Pro1891Thr)
c.5476C>A (p.Pro1826Thr)
c.5644C>A (p.Pro1882Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280770G>ACA497373505ANKRD11c.5772C>T (p.Ile1924=)
c.*5575C>T (n.*5575C>T)
c.745-5579C>T (n.745-5579C>T)
c.152-5579C>T
c.5670C>T (p.Ile1890=)
c.5475C>T (p.Ile1825=)
c.5643C>T (p.Ile1881=)
gnomAD v4
16g.89280770G>CCA397153079ANKRD11c.5772C>G (p.Ile1924Met)
c.*5575C>G (n.*5575C>G)
c.745-5579C>G (n.745-5579C>G)
c.152-5579C>G
c.5670C>G (p.Ile1890Met)
c.5475C>G (p.Ile1825Met)
c.5643C>G (p.Ile1881Met)
gnomAD v4
16g.89280770G>TCA497373506ANKRD11c.5772C>A (p.Ile1924=)
c.*5575C>A (n.*5575C>A)
c.745-5579C>A (n.745-5579C>A)
c.152-5579C>A
c.5670C>A (p.Ile1890=)
c.5475C>A (p.Ile1825=)
c.5643C>A (p.Ile1881=)
gnomAD v4
16g.89280771A>CCA397153080ANKRD11c.5771T>G (p.Ile1924Ser)
c.*5574T>G (n.*5574T>G)
c.745-5580T>G (n.745-5580T>G)
c.152-5580T>G
c.5669T>G (p.Ile1890Ser)
c.5474T>G (p.Ile1825Ser)
c.5642T>G (p.Ile1881Ser)
16g.89280771A>GCA397153082ANKRD11c.5771T>C (p.Ile1924Thr)
c.*5574T>C (n.*5574T>C)
c.745-5580T>C (n.745-5580T>C)
c.152-5580T>C
c.5669T>C (p.Ile1890Thr)
c.5474T>C (p.Ile1825Thr)
c.5642T>C (p.Ile1881Thr)
16g.89280771A>TCA397153081ANKRD11c.5771T>A (p.Ile1924Asn)
c.*5574T>A (n.*5574T>A)
c.745-5580T>A (n.745-5580T>A)
c.152-5580T>A
c.5669T>A (p.Ile1890Asn)
c.5474T>A (p.Ile1825Asn)
c.5642T>A (p.Ile1881Asn)
16g.89280772T>ACA397153083ANKRD11c.5770A>T (p.Ile1924Phe)
c.*5573A>T (n.*5573A>T)
c.745-5581A>T (n.745-5581A>T)
c.152-5581A>T
c.5668A>T (p.Ile1890Phe)
c.5473A>T (p.Ile1825Phe)
c.5641A>T (p.Ile1881Phe)
16g.89280772T>CCA397153084ANKRD11c.5770A>G (p.Ile1924Val)
c.*5573A>G (n.*5573A>G)
c.745-5581A>G (n.745-5581A>G)
c.152-5581A>G
c.5668A>G (p.Ile1890Val)
c.5473A>G (p.Ile1825Val)
c.5641A>G (p.Ile1881Val)
16g.89280772T>GCA397153085ANKRD11c.5770A>C (p.Ile1924Leu)
c.*5573A>C (n.*5573A>C)
c.745-5581A>C (n.745-5581A>C)
c.152-5581A>C
c.5668A>C (p.Ile1890Leu)
c.5473A>C (p.Ile1825Leu)
c.5641A>C (p.Ile1881Leu)
16g.89280773G>ACA497373508ANKRD11c.5769C>T (p.Ile1923=)
c.*5572C>T (n.*5572C>T)
c.745-5582C>T (n.745-5582C>T)
c.152-5582C>T
c.5667C>T (p.Ile1889=)
c.5472C>T (p.Ile1824=)
c.5640C>T (p.Ile1880=)
gnomAD v4
16g.89280773G>CCA397153086ANKRD11c.5769C>G (p.Ile1923Met)
c.*5572C>G (n.*5572C>G)
c.745-5582C>G (n.745-5582C>G)
c.152-5582C>G
c.5667C>G (p.Ile1889Met)
c.5472C>G (p.Ile1824Met)
c.5640C>G (p.Ile1880Met)
16g.89280773G>TCA497373507ANKRD11c.5769C>A (p.Ile1923=)
c.*5572C>A (n.*5572C>A)
c.745-5582C>A (n.745-5582C>A)
c.152-5582C>A
c.5667C>A (p.Ile1889=)
c.5472C>A (p.Ile1824=)
c.5640C>A (p.Ile1880=)
16g.89280774A>CCA397153087ANKRD11c.5768T>G (p.Ile1923Ser)
c.*5571T>G (n.*5571T>G)
c.745-5583T>G (n.745-5583T>G)
c.152-5583T>G
c.5666T>G (p.Ile1889Ser)
c.5471T>G (p.Ile1824Ser)
c.5639T>G (p.Ile1880Ser)
16g.89280774A>GCA397153089ANKRD11c.5768T>C (p.Ile1923Thr)
c.*5571T>C (n.*5571T>C)
c.745-5583T>C (n.745-5583T>C)
c.152-5583T>C
c.5666T>C (p.Ile1889Thr)
c.5471T>C (p.Ile1824Thr)
c.5639T>C (p.Ile1880Thr)
gnomAD v4
16g.89280774A>TCA397153088ANKRD11c.5768T>A (p.Ile1923Asn)
c.*5571T>A (n.*5571T>A)
c.745-5583T>A (n.745-5583T>A)
c.152-5583T>A
c.5666T>A (p.Ile1889Asn)
c.5471T>A (p.Ile1824Asn)
c.5639T>A (p.Ile1880Asn)
16g.89280775T>ACA397153090ANKRD11c.5767A>T (p.Ile1923Phe)
c.*5570A>T (n.*5570A>T)
c.745-5584A>T (n.745-5584A>T)
c.152-5584A>T
c.5665A>T (p.Ile1889Phe)
c.5470A>T (p.Ile1824Phe)
c.5638A>T (p.Ile1880Phe)
16g.89280775T>CCA397153092ANKRD11c.5767A>G (p.Ile1923Val)
c.*5570A>G (n.*5570A>G)
c.745-5584A>G (n.745-5584A>G)
c.152-5584A>G
c.5665A>G (p.Ile1889Val)
c.5470A>G (p.Ile1824Val)
c.5638A>G (p.Ile1880Val)
gnomAD v4
16g.89280775T>GCA397153091ANKRD11c.5767A>C (p.Ile1923Leu)
c.*5570A>C (n.*5570A>C)
c.745-5584A>C (n.745-5584A>C)
c.152-5584A>C
c.5665A>C (p.Ile1889Leu)
c.5470A>C (p.Ile1824Leu)
c.5638A>C (p.Ile1880Leu)
16g.89280776G>ACA8241726ANKRD11c.5766C>T (p.Ala1922=)
c.*5569C>T (n.*5569C>T)
c.745-5585C>T (n.745-5585C>T)
c.152-5585C>T
c.5664C>T (p.Ala1888=)
c.5469C>T (p.Ala1823=)
c.5637C>T (p.Ala1879=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280776G>CCA497373509ANKRD11c.5766C>G (p.Ala1922=)
c.*5569C>G (n.*5569C>G)
c.745-5585C>G (n.745-5585C>G)
c.152-5585C>G
c.5664C>G (p.Ala1888=)
c.5469C>G (p.Ala1823=)
c.5637C>G (p.Ala1879=)
16g.89280776G=CA2241587662ANKRD11c.5766C= (p.Ala1922=)
c.*5569C= (n.*5569C=)
c.745-5585C= (n.745-5585C=)
c.152-5585C=
c.5664C= (p.Ala1888=)
c.5469C= (p.Ala1823=)
c.5637C= (p.Ala1879=)
16g.89280776G>TCA497373510ANKRD11c.5766C>A (p.Ala1922=)
c.*5569C>A (n.*5569C>A)
c.745-5585C>A (n.745-5585C>A)
c.152-5585C>A
c.5664C>A (p.Ala1888=)
c.5469C>A (p.Ala1823=)
c.5637C>A (p.Ala1879=)
16g.89280777_89280804delCA2580092410ANKRD11c.5739_5766del (p.Glu1915SerfsTer?)
c.*5542_*5569del (n.*5542_*5569del)
c.745-5612_745-5585del (n.745-5612_745-5585del)
c.152-5612_152-5585del
c.5637_5664del (p.Glu1881SerfsTer?)
c.5442_5469del (p.Glu1816SerfsTer?)
c.5610_5637del (p.Glu1872SerfsTer?)
ClinVar
16g.89280777G>ACA397153095ANKRD11c.5765C>T (p.Ala1922Val)
c.*5568C>T (n.*5568C>T)
c.745-5586C>T (n.745-5586C>T)
c.152-5586C>T
c.5663C>T (p.Ala1888Val)
c.5468C>T (p.Ala1823Val)
c.5636C>T (p.Ala1879Val)
16g.89280777G>CCA397153093ANKRD11c.5765C>G (p.Ala1922Gly)
c.*5568C>G (n.*5568C>G)
c.745-5586C>G (n.745-5586C>G)
c.152-5586C>G
c.5663C>G (p.Ala1888Gly)
c.5468C>G (p.Ala1823Gly)
c.5636C>G (p.Ala1879Gly)
16g.89280777G>TCA397153094ANKRD11c.5765C>A (p.Ala1922Asp)
c.*5568C>A (n.*5568C>A)
c.745-5586C>A (n.745-5586C>A)
c.152-5586C>A
c.5663C>A (p.Ala1888Asp)
c.5468C>A (p.Ala1823Asp)
c.5636C>A (p.Ala1879Asp)
16g.89280778C>ACA397153096ANKRD11c.5764G>T (p.Ala1922Ser)
c.*5567G>T (n.*5567G>T)
c.745-5587G>T (n.745-5587G>T)
c.152-5587G>T
c.5662G>T (p.Ala1888Ser)
c.5467G>T (p.Ala1823Ser)
c.5635G>T (p.Ala1879Ser)
16g.89280778C=CA2241587663ANKRD11c.5764G= (p.Ala1922=)
c.*5567G= (n.*5567G=)
c.745-5587G= (n.745-5587G=)
c.152-5587G=
c.5662G= (p.Ala1888=)
c.5467G= (p.Ala1823=)
c.5635G= (p.Ala1879=)
16g.89280778C>GCA397153097ANKRD11c.5764G>C (p.Ala1922Pro)
c.*5567G>C (n.*5567G>C)
c.745-5587G>C (n.745-5587G>C)
c.152-5587G>C
c.5662G>C (p.Ala1888Pro)
c.5467G>C (p.Ala1823Pro)
c.5635G>C (p.Ala1879Pro)
16g.89280778C>TCA8241727ANKRD11c.5764G>A (p.Ala1922Thr)
c.*5567G>A (n.*5567G>A)
c.745-5587G>A (n.745-5587G>A)
c.152-5587G>A
c.5662G>A (p.Ala1888Thr)
c.5467G>A (p.Ala1823Thr)
c.5635G>A (p.Ala1879Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280779G>ACA8241728ANKRD11c.5763C>T (p.Ala1921=)
c.*5566C>T (n.*5566C>T)
c.745-5588C>T (n.745-5588C>T)
c.152-5588C>T
c.5661C>T (p.Ala1887=)
c.5466C>T (p.Ala1822=)
c.5634C>T (p.Ala1878=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280779G>CCA497373512ANKRD11c.5763C>G (p.Ala1921=)
c.*5566C>G (n.*5566C>G)
c.745-5588C>G (n.745-5588C>G)
c.152-5588C>G
c.5661C>G (p.Ala1887=)
c.5466C>G (p.Ala1822=)
c.5634C>G (p.Ala1878=)
16g.89280779G=CA2241587664ANKRD11c.5763C= (p.Ala1921=)
c.*5566C= (n.*5566C=)
c.745-5588C= (n.745-5588C=)
c.152-5588C=
c.5661C= (p.Ala1887=)
c.5466C= (p.Ala1822=)
c.5634C= (p.Ala1878=)
16g.89280779G>TCA497373511ANKRD11c.5763C>A (p.Ala1921=)
c.*5566C>A (n.*5566C>A)
c.745-5588C>A (n.745-5588C>A)
c.152-5588C>A
c.5661C>A (p.Ala1887=)
c.5466C>A (p.Ala1822=)
c.5634C>A (p.Ala1878=)
16g.89280780G>ACA397153098ANKRD11c.5762C>T (p.Ala1921Val)
c.*5565C>T (n.*5565C>T)
c.745-5589C>T (n.745-5589C>T)
c.152-5589C>T
c.5660C>T (p.Ala1887Val)
c.5465C>T (p.Ala1822Val)
c.5633C>T (p.Ala1878Val)
dbSNP COSMIC
16g.89280780G>CCA397153099ANKRD11c.5762C>G (p.Ala1921Gly)
c.*5565C>G (n.*5565C>G)
c.745-5589C>G (n.745-5589C>G)
c.152-5589C>G
c.5660C>G (p.Ala1887Gly)
c.5465C>G (p.Ala1822Gly)
c.5633C>G (p.Ala1878Gly)
16g.89280780G>TCA397153100ANKRD11c.5762C>A (p.Ala1921Asp)
c.*5565C>A (n.*5565C>A)
c.745-5589C>A (n.745-5589C>A)
c.152-5589C>A
c.5660C>A (p.Ala1887Asp)
c.5465C>A (p.Ala1822Asp)
c.5633C>A (p.Ala1878Asp)
16g.89280781C>ACA397153101ANKRD11c.5761G>T (p.Ala1921Ser)
c.*5564G>T (n.*5564G>T)
c.745-5590G>T (n.745-5590G>T)
c.152-5590G>T
c.5659G>T (p.Ala1887Ser)
c.5464G>T (p.Ala1822Ser)
c.5632G>T (p.Ala1878Ser)
16g.89280781C=CA2241587665ANKRD11c.5761G= (p.Ala1921=)
c.*5564G= (n.*5564G=)
c.745-5590G= (n.745-5590G=)
c.152-5590G=
c.5659G= (p.Ala1887=)
c.5464G= (p.Ala1822=)
c.5632G= (p.Ala1878=)
16g.89280781C>GCA397153102ANKRD11c.5761G>C (p.Ala1921Pro)
c.*5564G>C (n.*5564G>C)
c.745-5590G>C (n.745-5590G>C)
c.152-5590G>C
c.5659G>C (p.Ala1887Pro)
c.5464G>C (p.Ala1822Pro)
c.5632G>C (p.Ala1878Pro)
dbSNP
16g.89280781C>TCA397153103ANKRD11c.5761G>A (p.Ala1921Thr)
c.*5564G>A (n.*5564G>A)
c.745-5590G>A (n.745-5590G>A)
c.152-5590G>A
c.5659G>A (p.Ala1887Thr)
c.5464G>A (p.Ala1822Thr)
c.5632G>A (p.Ala1878Thr)
dbSNP gnomAD v2 gnomAD v4
16g.89280782C>ACA497373513ANKRD11c.5760G>T (p.Thr1920=)
c.*5563G>T (n.*5563G>T)
c.745-5591G>T (n.745-5591G>T)
c.152-5591G>T
c.5658G>T (p.Thr1886=)
c.5463G>T (p.Thr1821=)
c.5631G>T (p.Thr1877=)
16g.89280782C=CA2241587666ANKRD11c.5760G= (p.Thr1920=)
c.*5563G= (n.*5563G=)
c.745-5591G= (n.745-5591G=)
c.152-5591G=
c.5658G= (p.Thr1886=)
c.5463G= (p.Thr1821=)
c.5631G= (p.Thr1877=)
16g.89280782C>GCA8241730ANKRD11c.5760G>C (p.Thr1920=)
c.*5563G>C (n.*5563G>C)
c.745-5591G>C (n.745-5591G>C)
c.152-5591G>C
c.5658G>C (p.Thr1886=)
c.5463G>C (p.Thr1821=)
c.5631G>C (p.Thr1877=)
dbSNP ExAC gnomAD v2
16g.89280782C>TCA8241729ANKRD11c.5760G>A (p.Thr1920=)
c.*5563G>A (n.*5563G>A)
c.745-5591G>A (n.745-5591G>A)
c.152-5591G>A
c.5658G>A (p.Thr1886=)
c.5463G>A (p.Thr1821=)
c.5631G>A (p.Thr1877=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280783G>ACA397153104ANKRD11c.5759C>T (p.Thr1920Met)
c.*5562C>T (n.*5562C>T)
c.745-5592C>T (n.745-5592C>T)
c.152-5592C>T
c.5657C>T (p.Thr1886Met)
c.5462C>T (p.Thr1821Met)
c.5630C>T (p.Thr1877Met)
dbSNP gnomAD v4 COSMIC
16g.89280783G>CCA397153105ANKRD11c.5759C>G (p.Thr1920Arg)
c.*5562C>G (n.*5562C>G)
c.745-5592C>G (n.745-5592C>G)
c.152-5592C>G
c.5657C>G (p.Thr1886Arg)
c.5462C>G (p.Thr1821Arg)
c.5630C>G (p.Thr1877Arg)
16g.89280783G=CA2241587667ANKRD11c.5759C= (p.Thr1920=)
c.*5562C= (n.*5562C=)
c.745-5592C= (n.745-5592C=)
c.152-5592C=
c.5657C= (p.Thr1886=)
c.5462C= (p.Thr1821=)
c.5630C= (p.Thr1877=)
16g.89280783G>TCA397153106ANKRD11c.5759C>A (p.Thr1920Lys)
c.*5562C>A (n.*5562C>A)
c.745-5592C>A (n.745-5592C>A)
c.152-5592C>A
c.5657C>A (p.Thr1886Lys)
c.5462C>A (p.Thr1821Lys)
c.5630C>A (p.Thr1877Lys)
16g.89280784T>ACA397153107ANKRD11c.5758A>T (p.Thr1920Ser)
c.*5561A>T (n.*5561A>T)
c.745-5593A>T (n.745-5593A>T)
c.152-5593A>T
c.5656A>T (p.Thr1886Ser)
c.5461A>T (p.Thr1821Ser)
c.5629A>T (p.Thr1877Ser)
16g.89280784T>CCA397153108ANKRD11c.5758A>G (p.Thr1920Ala)
c.*5561A>G (n.*5561A>G)
c.745-5593A>G (n.745-5593A>G)
c.152-5593A>G
c.5656A>G (p.Thr1886Ala)
c.5461A>G (p.Thr1821Ala)
c.5629A>G (p.Thr1877Ala)
16g.89280784T>GCA397153109ANKRD11c.5758A>C (p.Thr1920Pro)
c.*5561A>C (n.*5561A>C)
c.745-5593A>C (n.745-5593A>C)
c.152-5593A>C
c.5656A>C (p.Thr1886Pro)
c.5461A>C (p.Thr1821Pro)
c.5629A>C (p.Thr1877Pro)
dbSNP
16g.89280784T=CA2241587668ANKRD11c.5758A= (p.Thr1920=)
c.*5561A= (n.*5561A=)
c.745-5593A= (n.745-5593A=)
c.152-5593A=
c.5656A= (p.Thr1886=)
c.5461A= (p.Thr1821=)
c.5629A= (p.Thr1877=)
16g.89280785C>ACA497373514ANKRD11c.5757G>T (p.Ala1919=)
c.*5560G>T (n.*5560G>T)
c.745-5594G>T (n.745-5594G>T)
c.152-5594G>T
c.5655G>T (p.Ala1885=)
c.5460G>T (p.Ala1820=)
c.5628G>T (p.Ala1876=)
16g.89280785C=CA2241587669ANKRD11c.5757G= (p.Ala1919=)
c.*5560G= (n.*5560G=)
c.745-5594G= (n.745-5594G=)
c.152-5594G=
c.5655G= (p.Ala1885=)
c.5460G= (p.Ala1820=)
c.5628G= (p.Ala1876=)
16g.89280785C>GCA497373515ANKRD11c.5757G>C (p.Ala1919=)
c.*5560G>C (n.*5560G>C)
c.745-5594G>C (n.745-5594G>C)
c.152-5594G>C
c.5655G>C (p.Ala1885=)
c.5460G>C (p.Ala1820=)
c.5628G>C (p.Ala1876=)
16g.89280785C>TCA8241731ANKRD11c.5757G>A (p.Ala1919=)
c.*5560G>A (n.*5560G>A)
c.745-5594G>A (n.745-5594G>A)
c.152-5594G>A
c.5655G>A (p.Ala1885=)
c.5460G>A (p.Ala1820=)
c.5628G>A (p.Ala1876=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280786G>ACA397153110ANKRD11c.5756C>T (p.Ala1919Val)
c.*5559C>T (n.*5559C>T)
c.745-5595C>T (n.745-5595C>T)
c.152-5595C>T
c.5654C>T (p.Ala1885Val)
c.5459C>T (p.Ala1820Val)
c.5627C>T (p.Ala1876Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89280786G>CCA8241732ANKRD11c.5756C>G (p.Ala1919Gly)
c.*5559C>G (n.*5559C>G)
c.745-5595C>G (n.745-5595C>G)
c.152-5595C>G
c.5654C>G (p.Ala1885Gly)
c.5459C>G (p.Ala1820Gly)
c.5627C>G (p.Ala1876Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280786G=CA2241587670ANKRD11c.5756C= (p.Ala1919=)
c.*5559C= (n.*5559C=)
c.745-5595C= (n.745-5595C=)
c.152-5595C=
c.5654C= (p.Ala1885=)
c.5459C= (p.Ala1820=)
c.5627C= (p.Ala1876=)
16g.89280786G>TCA397153111ANKRD11c.5756C>A (p.Ala1919Glu)
c.*5559C>A (n.*5559C>A)
c.745-5595C>A (n.745-5595C>A)
c.152-5595C>A
c.5654C>A (p.Ala1885Glu)
c.5459C>A (p.Ala1820Glu)
c.5627C>A (p.Ala1876Glu)
16g.89280787C>ACA8241733ANKRD11c.5755G>T (p.Ala1919Ser)
c.*5558G>T (n.*5558G>T)
c.745-5596G>T (n.745-5596G>T)
c.152-5596G>T
c.5653G>T (p.Ala1885Ser)
c.5458G>T (p.Ala1820Ser)
c.5626G>T (p.Ala1876Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280787C=CA2241587671ANKRD11c.5755G= (p.Ala1919=)
c.*5558G= (n.*5558G=)
c.745-5596G= (n.745-5596G=)
c.152-5596G=
c.5653G= (p.Ala1885=)
c.5458G= (p.Ala1820=)
c.5626G= (p.Ala1876=)
16g.89280787C>GCA397153113ANKRD11c.5755G>C (p.Ala1919Pro)
c.*5558G>C (n.*5558G>C)
c.745-5596G>C (n.745-5596G>C)
c.152-5596G>C
c.5653G>C (p.Ala1885Pro)
c.5458G>C (p.Ala1820Pro)
c.5626G>C (p.Ala1876Pro)
gnomAD v4
16g.89280787C>TCA397153112ANKRD11c.5755G>A (p.Ala1919Thr)
c.*5558G>A (n.*5558G>A)
c.745-5596G>A (n.745-5596G>A)
c.152-5596G>A
c.5653G>A (p.Ala1885Thr)
c.5458G>A (p.Ala1820Thr)
c.5626G>A (p.Ala1876Thr)
dbSNP
16g.89280788C>ACA397153114ANKRD11c.5754G>T (p.Gln1918His)
c.*5557G>T (n.*5557G>T)
c.745-5597G>T (n.745-5597G>T)
c.152-5597G>T
c.5652G>T (p.Gln1884His)
c.5457G>T (p.Gln1819His)
c.5625G>T (p.Gln1875His)
16g.89280788C>GCA397153115ANKRD11c.5754G>C (p.Gln1918His)
c.*5557G>C (n.*5557G>C)
c.745-5597G>C (n.745-5597G>C)
c.152-5597G>C
c.5652G>C (p.Gln1884His)
c.5457G>C (p.Gln1819His)
c.5625G>C (p.Gln1875His)
16g.89280788C>TCA497373516ANKRD11c.5754G>A (p.Gln1918=)
c.*5557G>A (n.*5557G>A)
c.745-5597G>A (n.745-5597G>A)
c.152-5597G>A
c.5652G>A (p.Gln1884=)
c.5457G>A (p.Gln1819=)
c.5625G>A (p.Gln1875=)
16g.89280789T>ACA397153116ANKRD11c.5753A>T (p.Gln1918Leu)
c.*5556A>T (n.*5556A>T)
c.745-5598A>T (n.745-5598A>T)
c.152-5598A>T
c.5651A>T (p.Gln1884Leu)
c.5456A>T (p.Gln1819Leu)
c.5624A>T (p.Gln1875Leu)
16g.89280789T>CCA397153117ANKRD11c.5753A>G (p.Gln1918Arg)
c.*5556A>G (n.*5556A>G)
c.745-5598A>G (n.745-5598A>G)
c.152-5598A>G
c.5651A>G (p.Gln1884Arg)
c.5456A>G (p.Gln1819Arg)
c.5624A>G (p.Gln1875Arg)
dbSNP gnomAD v3 gnomAD v4
16g.89280789T>GCA397153118ANKRD11c.5753A>C (p.Gln1918Pro)
c.*5556A>C (n.*5556A>C)
c.745-5598A>C (n.745-5598A>C)
c.152-5598A>C
c.5651A>C (p.Gln1884Pro)
c.5456A>C (p.Gln1819Pro)
c.5624A>C (p.Gln1875Pro)
16g.89280789T=CA2241587672ANKRD11c.5753A= (p.Gln1918=)
c.*5556A= (n.*5556A=)
c.745-5598A= (n.745-5598A=)
c.152-5598A=
c.5651A= (p.Gln1884=)
c.5456A= (p.Gln1819=)
c.5624A= (p.Gln1875=)
16g.89280790G>ACA397153121ANKRD11c.5752C>T (p.Gln1918Ter)
c.*5555C>T (n.*5555C>T)
c.745-5599C>T (n.745-5599C>T)
c.152-5599C>T
c.5650C>T (p.Gln1884Ter)
c.5455C>T (p.Gln1819Ter)
c.5623C>T (p.Gln1875Ter)
16g.89280790G>CCA397153119ANKRD11c.5752C>G (p.Gln1918Glu)
c.*5555C>G (n.*5555C>G)
c.745-5599C>G (n.745-5599C>G)
c.152-5599C>G
c.5650C>G (p.Gln1884Glu)
c.5455C>G (p.Gln1819Glu)
c.5623C>G (p.Gln1875Glu)
gnomAD v4
16g.89280790G>TCA397153120ANKRD11c.5752C>A (p.Gln1918Lys)
c.*5555C>A (n.*5555C>A)
c.745-5599C>A (n.745-5599C>A)
c.152-5599C>A
c.5650C>A (p.Gln1884Lys)
c.5455C>A (p.Gln1819Lys)
c.5623C>A (p.Gln1875Lys)
COSMIC
16g.89280791C>ACA397153122ANKRD11c.5751G>T (p.Gln1917His)
c.*5554G>T (n.*5554G>T)
c.745-5600G>T (n.745-5600G>T)
c.152-5600G>T
c.5649G>T (p.Gln1883His)
c.5454G>T (p.Gln1818His)
c.5622G>T (p.Gln1874His)
gnomAD v4
16g.89280791C>GCA397153123ANKRD11c.5751G>C (p.Gln1917His)
c.*5554G>C (n.*5554G>C)
c.745-5600G>C (n.745-5600G>C)
c.152-5600G>C
c.5649G>C (p.Gln1883His)
c.5454G>C (p.Gln1818His)
c.5622G>C (p.Gln1874His)
gnomAD v4
16g.89280791C>TCA497373518ANKRD11c.5751G>A (p.Gln1917=)
c.*5554G>A (n.*5554G>A)
c.745-5600G>A (n.745-5600G>A)
c.152-5600G>A
c.5649G>A (p.Gln1883=)
c.5454G>A (p.Gln1818=)
c.5622G>A (p.Gln1874=)
gnomAD v4
16g.89280792T>ACA397153124ANKRD11c.5750A>T (p.Gln1917Leu)
c.*5553A>T (n.*5553A>T)
c.745-5601A>T (n.745-5601A>T)
c.152-5601A>T
c.5648A>T (p.Gln1883Leu)
c.5453A>T (p.Gln1818Leu)
c.5621A>T (p.Gln1874Leu)
16g.89280792T>CCA397153125ANKRD11c.5750A>G (p.Gln1917Arg)
c.*5553A>G (n.*5553A>G)
c.745-5601A>G (n.745-5601A>G)
c.152-5601A>G
c.5648A>G (p.Gln1883Arg)
c.5453A>G (p.Gln1818Arg)
c.5621A>G (p.Gln1874Arg)
gnomAD v4
16g.89280792T>GCA397153126ANKRD11c.5750A>C (p.Gln1917Pro)
c.*5553A>C (n.*5553A>C)
c.745-5601A>C (n.745-5601A>C)
c.152-5601A>C
c.5648A>C (p.Gln1883Pro)
c.5453A>C (p.Gln1818Pro)
c.5621A>C (p.Gln1874Pro)
16g.89280793G>ACA397153127ANKRD11c.5749C>T (p.Gln1917Ter)
c.*5552C>T (n.*5552C>T)
c.745-5602C>T (n.745-5602C>T)
c.152-5602C>T
c.5647C>T (p.Gln1883Ter)
c.5452C>T (p.Gln1818Ter)
c.5620C>T (p.Gln1874Ter)
16g.89280793G>CCA397153129ANKRD11c.5749C>G (p.Gln1917Glu)
c.*5552C>G (n.*5552C>G)
c.745-5602C>G (n.745-5602C>G)
c.152-5602C>G
c.5647C>G (p.Gln1883Glu)
c.5452C>G (p.Gln1818Glu)
c.5620C>G (p.Gln1874Glu)
16g.89280793G>TCA397153128ANKRD11c.5749C>A (p.Gln1917Lys)
c.*5552C>A (n.*5552C>A)
c.745-5602C>A (n.745-5602C>A)
c.152-5602C>A
c.5647C>A (p.Gln1883Lys)
c.5452C>A (p.Gln1818Lys)
c.5620C>A (p.Gln1874Lys)
16g.89280794G>ACA8241734ANKRD11c.5748C>T (p.Asp1916=)
c.*5551C>T (n.*5551C>T)
c.745-5603C>T (n.745-5603C>T)
c.152-5603C>T
c.5646C>T (p.Asp1882=)
c.5451C>T (p.Asp1817=)
c.5619C>T (p.Asp1873=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280794G>CCA397153130ANKRD11c.5748C>G (p.Asp1916Glu)
c.*5551C>G (n.*5551C>G)
c.745-5603C>G (n.745-5603C>G)
c.152-5603C>G
c.5646C>G (p.Asp1882Glu)
c.5451C>G (p.Asp1817Glu)
c.5619C>G (p.Asp1873Glu)
gnomAD v4
16g.89280794G=CA2241587673ANKRD11c.5748C= (p.Asp1916=)
c.*5551C= (n.*5551C=)
c.745-5603C= (n.745-5603C=)
c.152-5603C=
c.5646C= (p.Asp1882=)
c.5451C= (p.Asp1817=)
c.5619C= (p.Asp1873=)
16g.89280794G>TCA397153131ANKRD11c.5748C>A (p.Asp1916Glu)
c.*5551C>A (n.*5551C>A)
c.745-5603C>A (n.745-5603C>A)
c.152-5603C>A
c.5646C>A (p.Asp1882Glu)
c.5451C>A (p.Asp1817Glu)
c.5619C>A (p.Asp1873Glu)
16g.89280795T>ACA397153132ANKRD11c.5747A>T (p.Asp1916Val)
c.*5550A>T (n.*5550A>T)
c.745-5604A>T (n.745-5604A>T)
c.152-5604A>T
c.5645A>T (p.Asp1882Val)
c.5450A>T (p.Asp1817Val)
c.5618A>T (p.Asp1873Val)
16g.89280795T>CCA397153133ANKRD11c.5747A>G (p.Asp1916Gly)
c.*5550A>G (n.*5550A>G)
c.745-5604A>G (n.745-5604A>G)
c.152-5604A>G
c.5645A>G (p.Asp1882Gly)
c.5450A>G (p.Asp1817Gly)
c.5618A>G (p.Asp1873Gly)
16g.89280795T>GCA397153134ANKRD11c.5747A>C (p.Asp1916Ala)
c.*5550A>C (n.*5550A>C)
c.745-5604A>C (n.745-5604A>C)
c.152-5604A>C
c.5645A>C (p.Asp1882Ala)
c.5450A>C (p.Asp1817Ala)
c.5618A>C (p.Asp1873Ala)
dbSNP
16g.89280795T=CA2241587674ANKRD11c.5747A= (p.Asp1916=)
c.*5550A= (n.*5550A=)
c.745-5604A= (n.745-5604A=)
c.152-5604A=
c.5645A= (p.Asp1882=)
c.5450A= (p.Asp1817=)
c.5618A= (p.Asp1873=)
16g.89280796C>ACA397153135ANKRD11c.5746G>T (p.Asp1916Tyr)
c.*5549G>T (n.*5549G>T)
c.745-5605G>T (n.745-5605G>T)
c.152-5605G>T
c.5644G>T (p.Asp1882Tyr)
c.5449G>T (p.Asp1817Tyr)
c.5617G>T (p.Asp1873Tyr)
gnomAD v4
16g.89280796C=CA2241587675ANKRD11c.5746G= (p.Asp1916=)
c.*5549G= (n.*5549G=)
c.745-5605G= (n.745-5605G=)
c.152-5605G=
c.5644G= (p.Asp1882=)
c.5449G= (p.Asp1817=)
c.5617G= (p.Asp1873=)
16g.89280796C>GCA397153136ANKRD11c.5746G>C (p.Asp1916His)
c.*5549G>C (n.*5549G>C)
c.745-5605G>C (n.745-5605G>C)
c.152-5605G>C
c.5644G>C (p.Asp1882His)
c.5449G>C (p.Asp1817His)
c.5617G>C (p.Asp1873His)
16g.89280796C>TCA397153137ANKRD11c.5746G>A (p.Asp1916Asn)
c.*5549G>A (n.*5549G>A)
c.745-5605G>A (n.745-5605G>A)
c.152-5605G>A
c.5644G>A (p.Asp1882Asn)
c.5449G>A (p.Asp1817Asn)
c.5617G>A (p.Asp1873Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280797C>ACA397153138ANKRD11c.5745G>T (p.Glu1915Asp)
c.*5548G>T (n.*5548G>T)
c.745-5606G>T (n.745-5606G>T)
c.152-5606G>T
c.5643G>T (p.Glu1881Asp)
c.5448G>T (p.Glu1816Asp)
c.5616G>T (p.Glu1872Asp)
16g.89280797C>GCA397153139ANKRD11c.5745G>C (p.Glu1915Asp)
c.*5548G>C (n.*5548G>C)
c.745-5606G>C (n.745-5606G>C)
c.152-5606G>C
c.5643G>C (p.Glu1881Asp)
c.5448G>C (p.Glu1816Asp)
c.5616G>C (p.Glu1872Asp)
16g.89280797C>TCA497373523ANKRD11c.5745G>A (p.Glu1915=)
c.*5548G>A (n.*5548G>A)
c.745-5606G>A (n.745-5606G>A)
c.152-5606G>A
c.5643G>A (p.Glu1881=)
c.5448G>A (p.Glu1816=)
c.5616G>A (p.Glu1872=)
gnomAD v4
16g.89280798T>ACA397153141ANKRD11c.5744A>T (p.Glu1915Val)
c.*5547A>T (n.*5547A>T)
c.745-5607A>T (n.745-5607A>T)
c.152-5607A>T
c.5642A>T (p.Glu1881Val)
c.5447A>T (p.Glu1816Val)
c.5615A>T (p.Glu1872Val)
16g.89280798T>CCA397153142ANKRD11c.5744A>G (p.Glu1915Gly)
c.*5547A>G (n.*5547A>G)
c.745-5607A>G (n.745-5607A>G)
c.152-5607A>G
c.5642A>G (p.Glu1881Gly)
c.5447A>G (p.Glu1816Gly)
c.5615A>G (p.Glu1872Gly)
16g.89280798T>GCA397153140ANKRD11c.5744A>C (p.Glu1915Ala)
c.*5547A>C (n.*5547A>C)
c.745-5607A>C (n.745-5607A>C)
c.152-5607A>C
c.5642A>C (p.Glu1881Ala)
c.5447A>C (p.Glu1816Ala)
c.5615A>C (p.Glu1872Ala)
16g.89280799C>ACA397153143ANKRD11c.5743G>T (p.Glu1915Ter)
c.*5546G>T (n.*5546G>T)
c.745-5608G>T (n.745-5608G>T)
c.152-5608G>T
c.5641G>T (p.Glu1881Ter)
c.5446G>T (p.Glu1816Ter)
c.5614G>T (p.Glu1872Ter)
16g.89280799C=CA2241587676ANKRD11c.5743G= (p.Glu1915=)
c.*5546G= (n.*5546G=)
c.745-5608G= (n.745-5608G=)
c.152-5608G=
c.5641G= (p.Glu1881=)
c.5446G= (p.Glu1816=)
c.5614G= (p.Glu1872=)
16g.89280799C>GCA397153144ANKRD11c.5743G>C (p.Glu1915Gln)
c.*5546G>C (n.*5546G>C)
c.745-5608G>C (n.745-5608G>C)
c.152-5608G>C
c.5641G>C (p.Glu1881Gln)
c.5446G>C (p.Glu1816Gln)
c.5614G>C (p.Glu1872Gln)
16g.89280799C>TCA8241735ANKRD11c.5743G>A (p.Glu1915Lys)
c.*5546G>A (n.*5546G>A)
c.745-5608G>A (n.745-5608G>A)
c.152-5608G>A
c.5641G>A (p.Glu1881Lys)
c.5446G>A (p.Glu1816Lys)
c.5614G>A (p.Glu1872Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280800G>ACA8241736ANKRD11c.5742C>T (p.Ser1914=)
c.*5545C>T (n.*5545C>T)
c.745-5609C>T (n.745-5609C>T)
c.152-5609C>T
c.5640C>T (p.Ser1880=)
c.5445C>T (p.Ser1815=)
c.5613C>T (p.Ser1871=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280800G>CCA497373526ANKRD11c.5742C>G (p.Ser1914=)
c.*5545C>G (n.*5545C>G)
c.745-5609C>G (n.745-5609C>G)
c.152-5609C>G
c.5640C>G (p.Ser1880=)
c.5445C>G (p.Ser1815=)
c.5613C>G (p.Ser1871=)
gnomAD v4
16g.89280800G=CA2241587677ANKRD11c.5742C= (p.Ser1914=)
c.*5545C= (n.*5545C=)
c.745-5609C= (n.745-5609C=)
c.152-5609C=
c.5640C= (p.Ser1880=)
c.5445C= (p.Ser1815=)
c.5613C= (p.Ser1871=)
16g.89280800G>TCA497373525ANKRD11c.5742C>A (p.Ser1914=)
c.*5545C>A (n.*5545C>A)
c.745-5609C>A (n.745-5609C>A)
c.152-5609C>A
c.5640C>A (p.Ser1880=)
c.5445C>A (p.Ser1815=)
c.5613C>A (p.Ser1871=)
16g.89280801G>ACA397153145ANKRD11c.5741C>T (p.Ser1914Phe)
c.*5544C>T (n.*5544C>T)
c.745-5610C>T (n.745-5610C>T)
c.152-5610C>T
c.5639C>T (p.Ser1880Phe)
c.5444C>T (p.Ser1815Phe)
c.5612C>T (p.Ser1871Phe)
gnomAD v4
16g.89280801G>CCA397153146ANKRD11c.5741C>G (p.Ser1914Cys)
c.*5544C>G (n.*5544C>G)
c.745-5610C>G (n.745-5610C>G)
c.152-5610C>G
c.5639C>G (p.Ser1880Cys)
c.5444C>G (p.Ser1815Cys)
c.5612C>G (p.Ser1871Cys)
16g.89280801G>TCA397153147ANKRD11c.5741C>A (p.Ser1914Tyr)
c.*5544C>A (n.*5544C>A)
c.745-5610C>A (n.745-5610C>A)
c.152-5610C>A
c.5639C>A (p.Ser1880Tyr)
c.5444C>A (p.Ser1815Tyr)
c.5612C>A (p.Ser1871Tyr)
16g.89280802A=CA2241587678ANKRD11c.5740T= (p.Ser1914=)
c.*5543T= (n.*5543T=)
c.745-5611T= (n.745-5611T=)
c.152-5611T=
c.5638T= (p.Ser1880=)
c.5443T= (p.Ser1815=)
c.5611T= (p.Ser1871=)
16g.89280802A>CCA397153148ANKRD11c.5740T>G (p.Ser1914Ala)
c.*5543T>G (n.*5543T>G)
c.745-5611T>G (n.745-5611T>G)
c.152-5611T>G
c.5638T>G (p.Ser1880Ala)
c.5443T>G (p.Ser1815Ala)
c.5611T>G (p.Ser1871Ala)
16g.89280802A>GCA397153150ANKRD11c.5740T>C (p.Ser1914Pro)
c.*5543T>C (n.*5543T>C)
c.745-5611T>C (n.745-5611T>C)
c.152-5611T>C
c.5638T>C (p.Ser1880Pro)
c.5443T>C (p.Ser1815Pro)
c.5611T>C (p.Ser1871Pro)
dbSNP
16g.89280802A>TCA397153149ANKRD11c.5740T>A (p.Ser1914Thr)
c.*5543T>A (n.*5543T>A)
c.745-5611T>A (n.745-5611T>A)
c.152-5611T>A
c.5638T>A (p.Ser1880Thr)
c.5443T>A (p.Ser1815Thr)
c.5611T>A (p.Ser1871Thr)
16g.89280803G>ACA8241737ANKRD11c.5739C>T (p.Thr1913=)
c.*5542C>T (n.*5542C>T)
c.745-5612C>T (n.745-5612C>T)
c.152-5612C>T
c.5637C>T (p.Thr1879=)
c.5442C>T (p.Thr1814=)
c.5610C>T (p.Thr1870=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280803G>CCA497373528ANKRD11c.5739C>G (p.Thr1913=)
c.*5542C>G (n.*5542C>G)
c.745-5612C>G (n.745-5612C>G)
c.152-5612C>G
c.5637C>G (p.Thr1879=)
c.5442C>G (p.Thr1814=)
c.5610C>G (p.Thr1870=)
16g.89280803G=CA2241587679ANKRD11c.5739C= (p.Thr1913=)
c.*5542C= (n.*5542C=)
c.745-5612C= (n.745-5612C=)
c.152-5612C=
c.5637C= (p.Thr1879=)
c.5442C= (p.Thr1814=)
c.5610C= (p.Thr1870=)
16g.89280803G>TCA497373529ANKRD11c.5739C>A (p.Thr1913=)
c.*5542C>A (n.*5542C>A)
c.745-5612C>A (n.745-5612C>A)
c.152-5612C>A
c.5637C>A (p.Thr1879=)
c.5442C>A (p.Thr1814=)
c.5610C>A (p.Thr1870=)
16g.89280804G>ACA397153151ANKRD11c.5738C>T (p.Thr1913Ile)
c.*5541C>T (n.*5541C>T)
c.745-5613C>T (n.745-5613C>T)
c.152-5613C>T
c.5636C>T (p.Thr1879Ile)
c.5441C>T (p.Thr1814Ile)
c.5609C>T (p.Thr1870Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89280804G>CCA397153152ANKRD11c.5738C>G (p.Thr1913Ser)
c.*5541C>G (n.*5541C>G)
c.745-5613C>G (n.745-5613C>G)
c.152-5613C>G
c.5636C>G (p.Thr1879Ser)
c.5441C>G (p.Thr1814Ser)
c.5609C>G (p.Thr1870Ser)
16g.89280804G=CA2241587680ANKRD11c.5738C= (p.Thr1913=)
c.*5541C= (n.*5541C=)
c.745-5613C= (n.745-5613C=)
c.152-5613C=
c.5636C= (p.Thr1879=)
c.5441C= (p.Thr1814=)
c.5609C= (p.Thr1870=)
16g.89280804G>TCA8241738ANKRD11c.5738C>A (p.Thr1913Asn)
c.*5541C>A (n.*5541C>A)
c.745-5613C>A (n.745-5613C>A)
c.152-5613C>A
c.5636C>A (p.Thr1879Asn)
c.5441C>A (p.Thr1814Asn)
c.5609C>A (p.Thr1870Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280805T>ACA397153154ANKRD11c.5737A>T (p.Thr1913Ser)
c.*5540A>T (n.*5540A>T)
c.745-5614A>T (n.745-5614A>T)
c.152-5614A>T
c.5635A>T (p.Thr1879Ser)
c.5440A>T (p.Thr1814Ser)
c.5608A>T (p.Thr1870Ser)
16g.89280805T>CCA8241739ANKRD11c.5737A>G (p.Thr1913Ala)
c.*5540A>G (n.*5540A>G)
c.745-5614A>G (n.745-5614A>G)
c.152-5614A>G
c.5635A>G (p.Thr1879Ala)
c.5440A>G (p.Thr1814Ala)
c.5608A>G (p.Thr1870Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280805T>GCA397153153ANKRD11c.5737A>C (p.Thr1913Pro)
c.*5540A>C (n.*5540A>C)
c.745-5614A>C (n.745-5614A>C)
c.152-5614A>C
c.5635A>C (p.Thr1879Pro)
c.5440A>C (p.Thr1814Pro)
c.5608A>C (p.Thr1870Pro)
dbSNP
16g.89280805T=CA2241587681ANKRD11c.5737A= (p.Thr1913=)
c.*5540A= (n.*5540A=)
c.745-5614A= (n.745-5614A=)
c.152-5614A=
c.5635A= (p.Thr1879=)
c.5440A= (p.Thr1814=)
c.5608A= (p.Thr1870=)
16g.89280806G>ACA497373534ANKRD11c.5736C>T (p.Asp1912=)
c.*5539C>T (n.*5539C>T)
c.745-5615C>T (n.745-5615C>T)
c.152-5615C>T
c.5634C>T (p.Asp1878=)
c.5439C>T (p.Asp1813=)
c.5607C>T (p.Asp1869=)
dbSNP gnomAD v4
16g.89280806G>CCA397153155ANKRD11c.5736C>G (p.Asp1912Glu)
c.*5539C>G (n.*5539C>G)
c.745-5615C>G (n.745-5615C>G)
c.152-5615C>G
c.5634C>G (p.Asp1878Glu)
c.5439C>G (p.Asp1813Glu)
c.5607C>G (p.Asp1869Glu)
16g.89280806G=CA2241587682ANKRD11c.5736C= (p.Asp1912=)
c.*5539C= (n.*5539C=)
c.745-5615C= (n.745-5615C=)
c.152-5615C=
c.5634C= (p.Asp1878=)
c.5439C= (p.Asp1813=)
c.5607C= (p.Asp1869=)
16g.89280806G>TCA8241740ANKRD11c.5736C>A (p.Asp1912Glu)
c.*5539C>A (n.*5539C>A)
c.745-5615C>A (n.745-5615C>A)
c.152-5615C>A
c.5634C>A (p.Asp1878Glu)
c.5439C>A (p.Asp1813Glu)
c.5607C>A (p.Asp1869Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280807T>ACA397153156ANKRD11c.5735A>T (p.Asp1912Val)
c.*5538A>T (n.*5538A>T)
c.745-5616A>T (n.745-5616A>T)
c.152-5616A>T
c.5633A>T (p.Asp1878Val)
c.5438A>T (p.Asp1813Val)
c.5606A>T (p.Asp1869Val)
16g.89280807T>CCA397153157ANKRD11c.5735A>G (p.Asp1912Gly)
c.*5538A>G (n.*5538A>G)
c.745-5616A>G (n.745-5616A>G)
c.152-5616A>G
c.5633A>G (p.Asp1878Gly)
c.5438A>G (p.Asp1813Gly)
c.5606A>G (p.Asp1869Gly)
gnomAD v4
16g.89280807T>GCA397153158ANKRD11c.5735A>C (p.Asp1912Ala)
c.*5538A>C (n.*5538A>C)
c.745-5616A>C (n.745-5616A>C)
c.152-5616A>C
c.5633A>C (p.Asp1878Ala)
c.5438A>C (p.Asp1813Ala)
c.5606A>C (p.Asp1869Ala)
16g.89280808C>ACA397153159ANKRD11c.5734G>T (p.Asp1912Tyr)
c.*5537G>T (n.*5537G>T)
c.745-5617G>T (n.745-5617G>T)
c.152-5617G>T
c.5632G>T (p.Asp1878Tyr)
c.5437G>T (p.Asp1813Tyr)
c.5605G>T (p.Asp1869Tyr)
16g.89280808C>GCA397153160ANKRD11c.5734G>C (p.Asp1912His)
c.*5537G>C (n.*5537G>C)
c.745-5617G>C (n.745-5617G>C)
c.152-5617G>C
c.5632G>C (p.Asp1878His)
c.5437G>C (p.Asp1813His)
c.5605G>C (p.Asp1869His)
16g.89280808C>TCA397153161ANKRD11c.5734G>A (p.Asp1912Asn)
c.*5537G>A (n.*5537G>A)
c.745-5617G>A (n.745-5617G>A)
c.152-5617G>A
c.5632G>A (p.Asp1878Asn)
c.5437G>A (p.Asp1813Asn)
c.5605G>A (p.Asp1869Asn)
16g.89280809C>ACA497373536ANKRD11c.5733G>T (p.Leu1911=)
c.*5536G>T (n.*5536G>T)
c.745-5618G>T (n.745-5618G>T)
c.152-5618G>T
c.5631G>T (p.Leu1877=)
c.5436G>T (p.Leu1812=)
c.5604G>T (p.Leu1868=)
16g.89280809C=CA2241587683ANKRD11c.5733G= (p.Leu1911=)
c.*5536G= (n.*5536G=)
c.745-5618G= (n.745-5618G=)
c.152-5618G=
c.5631G= (p.Leu1877=)
c.5436G= (p.Leu1812=)
c.5604G= (p.Leu1868=)
16g.89280809C>GCA497373537ANKRD11c.5733G>C (p.Leu1911=)
c.*5536G>C (n.*5536G>C)
c.745-5618G>C (n.745-5618G>C)
c.152-5618G>C
c.5631G>C (p.Leu1877=)
c.5436G>C (p.Leu1812=)
c.5604G>C (p.Leu1868=)
16g.89280809C>TCA497373539ANKRD11c.5733G>A (p.Leu1911=)
c.*5536G>A (n.*5536G>A)
c.745-5618G>A (n.745-5618G>A)
c.152-5618G>A
c.5631G>A (p.Leu1877=)
c.5436G>A (p.Leu1812=)
c.5604G>A (p.Leu1868=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280810A=CA2241587684ANKRD11c.5732T= (p.Leu1911=)
c.*5535T= (n.*5535T=)
c.745-5619T= (n.745-5619T=)
c.152-5619T=
c.5630T= (p.Leu1877=)
c.5435T= (p.Leu1812=)
c.5603T= (p.Leu1868=)
16g.89280810A>CCA397153162ANKRD11c.5732T>G (p.Leu1911Arg)
c.*5535T>G (n.*5535T>G)
c.745-5619T>G (n.745-5619T>G)
c.152-5619T>G
c.5630T>G (p.Leu1877Arg)
c.5435T>G (p.Leu1812Arg)
c.5603T>G (p.Leu1868Arg)
dbSNP gnomAD v4
16g.89280810A>GCA397153163ANKRD11c.5732T>C (p.Leu1911Pro)
c.*5535T>C (n.*5535T>C)
c.745-5619T>C (n.745-5619T>C)
c.152-5619T>C
c.5630T>C (p.Leu1877Pro)
c.5435T>C (p.Leu1812Pro)
c.5603T>C (p.Leu1868Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89280810A>TCA286513469ANKRD11c.5732T>A (p.Leu1911Gln)
c.*5535T>A (n.*5535T>A)
c.745-5619T>A (n.745-5619T>A)
c.152-5619T>A
c.5630T>A (p.Leu1877Gln)
c.5435T>A (p.Leu1812Gln)
c.5603T>A (p.Leu1868Gln)
dbSNP gnomAD v2 gnomAD v4
16g.89280811G>ACA497373541ANKRD11c.5731C>T (p.Leu1911=)
c.*5534C>T (n.*5534C>T)
c.745-5620C>T (n.745-5620C>T)
c.152-5620C>T
c.5629C>T (p.Leu1877=)
c.5434C>T (p.Leu1812=)
c.5602C>T (p.Leu1868=)
dbSNP gnomAD v4
16g.89280811G>CCA397153164ANKRD11c.5731C>G (p.Leu1911Val)
c.*5534C>G (n.*5534C>G)
c.745-5620C>G (n.745-5620C>G)
c.152-5620C>G
c.5629C>G (p.Leu1877Val)
c.5434C>G (p.Leu1812Val)
c.5602C>G (p.Leu1868Val)
16g.89280811G=CA2241587685ANKRD11c.5731C= (p.Leu1911=)
c.*5534C= (n.*5534C=)
c.745-5620C= (n.745-5620C=)
c.152-5620C=
c.5629C= (p.Leu1877=)
c.5434C= (p.Leu1812=)
c.5602C= (p.Leu1868=)
16g.89280811G>TCA397153165ANKRD11c.5731C>A (p.Leu1911Met)
c.*5534C>A (n.*5534C>A)
c.745-5620C>A (n.745-5620C>A)
c.152-5620C>A
c.5629C>A (p.Leu1877Met)
c.5434C>A (p.Leu1812Met)
c.5602C>A (p.Leu1868Met)
gnomAD v4
16g.89280812G>ACA8241741ANKRD11c.5730C>T (p.Asp1910=)
c.*5533C>T (n.*5533C>T)
c.745-5621C>T (n.745-5621C>T)
c.152-5621C>T
c.5628C>T (p.Asp1876=)
c.5433C>T (p.Asp1811=)
c.5601C>T (p.Asp1867=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280812G>CCA397153166ANKRD11c.5730C>G (p.Asp1910Glu)
c.*5533C>G (n.*5533C>G)
c.745-5621C>G (n.745-5621C>G)
c.152-5621C>G
c.5628C>G (p.Asp1876Glu)
c.5433C>G (p.Asp1811Glu)
c.5601C>G (p.Asp1867Glu)
16g.89280812G=CA2241587686ANKRD11c.5730C= (p.Asp1910=)
c.*5533C= (n.*5533C=)
c.745-5621C= (n.745-5621C=)
c.152-5621C=
c.5628C= (p.Asp1876=)
c.5433C= (p.Asp1811=)
c.5601C= (p.Asp1867=)
16g.89280812G>TCA8241742ANKRD11c.5730C>A (p.Asp1910Glu)
c.*5533C>A (n.*5533C>A)
c.745-5621C>A (n.745-5621C>A)
c.152-5621C>A
c.5628C>A (p.Asp1876Glu)
c.5433C>A (p.Asp1811Glu)
c.5601C>A (p.Asp1867Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280813T>ACA397153167ANKRD11c.5729A>T (p.Asp1910Val)
c.*5532A>T (n.*5532A>T)
c.745-5622A>T (n.745-5622A>T)
c.152-5622A>T
c.5627A>T (p.Asp1876Val)
c.5432A>T (p.Asp1811Val)
c.5600A>T (p.Asp1867Val)
16g.89280813T>CCA397153168ANKRD11c.5729A>G (p.Asp1910Gly)
c.*5532A>G (n.*5532A>G)
c.745-5622A>G (n.745-5622A>G)
c.152-5622A>G
c.5627A>G (p.Asp1876Gly)
c.5432A>G (p.Asp1811Gly)
c.5600A>G (p.Asp1867Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280813T>GCA397153169ANKRD11c.5729A>C (p.Asp1910Ala)
c.*5532A>C (n.*5532A>C)
c.745-5622A>C (n.745-5622A>C)
c.152-5622A>C
c.5627A>C (p.Asp1876Ala)
c.5432A>C (p.Asp1811Ala)
c.5600A>C (p.Asp1867Ala)
dbSNP
16g.89280813T=CA2241587687ANKRD11c.5729A= (p.Asp1910=)
c.*5532A= (n.*5532A=)
c.745-5622A= (n.745-5622A=)
c.152-5622A=
c.5627A= (p.Asp1876=)
c.5432A= (p.Asp1811=)
c.5600A= (p.Asp1867=)
16g.89280814C>ACA397153170ANKRD11c.5728G>T (p.Asp1910Tyr)
c.*5531G>T (n.*5531G>T)
c.745-5623G>T (n.745-5623G>T)
c.152-5623G>T
c.5626G>T (p.Asp1876Tyr)
c.5431G>T (p.Asp1811Tyr)
c.5599G>T (p.Asp1867Tyr)
16g.89280814C>GCA397153171ANKRD11c.5728G>C (p.Asp1910His)
c.*5531G>C (n.*5531G>C)
c.745-5623G>C (n.745-5623G>C)
c.152-5623G>C
c.5626G>C (p.Asp1876His)
c.5431G>C (p.Asp1811His)
c.5599G>C (p.Asp1867His)
gnomAD v4
16g.89280814C>TCA397153172ANKRD11c.5728G>A (p.Asp1910Asn)
c.*5531G>A (n.*5531G>A)
c.745-5623G>A (n.745-5623G>A)
c.152-5623G>A
c.5626G>A (p.Asp1876Asn)
c.5431G>A (p.Asp1811Asn)
c.5599G>A (p.Asp1867Asn)
16g.89280815C>ACA497373549ANKRD11c.5727G>T (p.Pro1909=)
c.*5530G>T (n.*5530G>T)
c.745-5624G>T (n.745-5624G>T)
c.152-5624G>T
c.5625G>T (p.Pro1875=)
c.5430G>T (p.Pro1810=)
c.5598G>T (p.Pro1866=)
16g.89280815C=CA2241587688ANKRD11c.5727G= (p.Pro1909=)
c.*5530G= (n.*5530G=)
c.745-5624G= (n.745-5624G=)
c.152-5624G=
c.5625G= (p.Pro1875=)
c.5430G= (p.Pro1810=)
c.5598G= (p.Pro1866=)
16g.89280815C>GCA497373551ANKRD11c.5727G>C (p.Pro1909=)
c.*5530G>C (n.*5530G>C)
c.745-5624G>C (n.745-5624G>C)
c.152-5624G>C
c.5625G>C (p.Pro1875=)
c.5430G>C (p.Pro1810=)
c.5598G>C (p.Pro1866=)
16g.89280815C>TCA497373547ANKRD11c.5727G>A (p.Pro1909=)
c.*5530G>A (n.*5530G>A)
c.745-5624G>A (n.745-5624G>A)
c.152-5624G>A
c.5625G>A (p.Pro1875=)
c.5430G>A (p.Pro1810=)
c.5598G>A (p.Pro1866=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280816G>ACA8241743ANKRD11c.5726C>T (p.Pro1909Leu)
c.*5529C>T (n.*5529C>T)
c.745-5625C>T (n.745-5625C>T)
c.152-5625C>T
c.5624C>T (p.Pro1875Leu)
c.5429C>T (p.Pro1810Leu)
c.5597C>T (p.Pro1866Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280816G>CCA397153173ANKRD11c.5726C>G (p.Pro1909Arg)
c.*5529C>G (n.*5529C>G)
c.745-5625C>G (n.745-5625C>G)
c.152-5625C>G
c.5624C>G (p.Pro1875Arg)
c.5429C>G (p.Pro1810Arg)
c.5597C>G (p.Pro1866Arg)
16g.89280816G=CA2241587689ANKRD11c.5726C= (p.Pro1909=)
c.*5529C= (n.*5529C=)
c.745-5625C= (n.745-5625C=)
c.152-5625C=
c.5624C= (p.Pro1875=)
c.5429C= (p.Pro1810=)
c.5597C= (p.Pro1866=)
16g.89280816G>TCA397153174ANKRD11c.5726C>A (p.Pro1909Gln)
c.*5529C>A (n.*5529C>A)
c.745-5625C>A (n.745-5625C>A)
c.152-5625C>A
c.5624C>A (p.Pro1875Gln)
c.5429C>A (p.Pro1810Gln)
c.5597C>A (p.Pro1866Gln)
16g.89280820dupCA2808088003ANKRD11c.5726dup (p.Asp1910GlyfsTer?)
c.*5529dup (n.*5529dup)
c.745-5625dup (n.745-5625dup)
c.152-5625dup
c.5624dup (p.Asp1876GlyfsTer?)
c.5429dup (p.Asp1811GlyfsTer?)
c.5597dup (p.Asp1867GlyfsTer?)
16g.89280820delCA2634943071ANKRD11c.5726del (p.Pro1909ArgfsTer?)
c.*5529del (n.*5529del)
c.745-5625del (n.745-5625del)
c.152-5625del
c.5624del (p.Pro1875ArgfsTer?)
c.5429del (p.Pro1810ArgfsTer?)
c.5597del (p.Pro1866ArgfsTer?)
gnomAD v4
16g.89280817G>ACA8241744ANKRD11c.5725C>T (p.Pro1909Ser)
c.*5528C>T (n.*5528C>T)
c.745-5626C>T (n.745-5626C>T)
c.152-5626C>T
c.5623C>T (p.Pro1875Ser)
c.5428C>T (p.Pro1810Ser)
c.5596C>T (p.Pro1866Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280817G>CCA397153175ANKRD11c.5725C>G (p.Pro1909Ala)
c.*5528C>G (n.*5528C>G)
c.745-5626C>G (n.745-5626C>G)
c.152-5626C>G
c.5623C>G (p.Pro1875Ala)
c.5428C>G (p.Pro1810Ala)
c.5596C>G (p.Pro1866Ala)
16g.89280817G=CA2241587690ANKRD11c.5725C= (p.Pro1909=)
c.*5528C= (n.*5528C=)
c.745-5626C= (n.745-5626C=)
c.152-5626C=
c.5623C= (p.Pro1875=)
c.5428C= (p.Pro1810=)
c.5596C= (p.Pro1866=)
16g.89280817G>TCA397153176ANKRD11c.5725C>A (p.Pro1909Thr)
c.*5528C>A (n.*5528C>A)
c.745-5626C>A (n.745-5626C>A)
c.152-5626C>A
c.5623C>A (p.Pro1875Thr)
c.5428C>A (p.Pro1810Thr)
c.5596C>A (p.Pro1866Thr)
16g.89280818G>ACA497373558ANKRD11c.5724C>T (p.Pro1908=)
c.*5527C>T (n.*5527C>T)
c.745-5627C>T (n.745-5627C>T)
c.152-5627C>T
c.5622C>T (p.Pro1874=)
c.5427C>T (p.Pro1809=)
c.5595C>T (p.Pro1865=)
ClinVar dbSNP gnomAD v4
16g.89280818G>CCA497373555ANKRD11c.5724C>G (p.Pro1908=)
c.*5527C>G (n.*5527C>G)
c.745-5627C>G (n.745-5627C>G)
c.152-5627C>G
c.5622C>G (p.Pro1874=)
c.5427C>G (p.Pro1809=)
c.5595C>G (p.Pro1865=)
16g.89280818G=CA2241587691ANKRD11c.5724C= (p.Pro1908=)
c.*5527C= (n.*5527C=)
c.745-5627C= (n.745-5627C=)
c.152-5627C=
c.5622C= (p.Pro1874=)
c.5427C= (p.Pro1809=)
c.5595C= (p.Pro1865=)
16g.89280818G>TCA497373557ANKRD11c.5724C>A (p.Pro1908=)
c.*5527C>A (n.*5527C>A)
c.745-5627C>A (n.745-5627C>A)
c.152-5627C>A
c.5622C>A (p.Pro1874=)
c.5427C>A (p.Pro1809=)
c.5595C>A (p.Pro1865=)
16g.89280819G>ACA8241745ANKRD11c.5723C>T (p.Pro1908Leu)
c.*5526C>T (n.*5526C>T)
c.745-5628C>T (n.745-5628C>T)
c.152-5628C>T
c.5621C>T (p.Pro1874Leu)
c.5426C>T (p.Pro1809Leu)
c.5594C>T (p.Pro1865Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280819G>CCA397153178ANKRD11c.5723C>G (p.Pro1908Arg)
c.*5526C>G (n.*5526C>G)
c.745-5628C>G (n.745-5628C>G)
c.152-5628C>G
c.5621C>G (p.Pro1874Arg)
c.5426C>G (p.Pro1809Arg)
c.5594C>G (p.Pro1865Arg)
16g.89280819G=CA2241587692ANKRD11c.5723C= (p.Pro1908=)
c.*5526C= (n.*5526C=)
c.745-5628C= (n.745-5628C=)
c.152-5628C=
c.5621C= (p.Pro1874=)
c.5426C= (p.Pro1809=)
c.5594C= (p.Pro1865=)
16g.89280819G>TCA397153177ANKRD11c.5723C>A (p.Pro1908His)
c.*5526C>A (n.*5526C>A)
c.745-5628C>A (n.745-5628C>A)
c.152-5628C>A
c.5621C>A (p.Pro1874His)
c.5426C>A (p.Pro1809His)
c.5594C>A (p.Pro1865His)
gnomAD v4
16g.89280820G>ACA8241747ANKRD11c.5722C>T (p.Pro1908Ser)
c.*5525C>T (n.*5525C>T)
c.745-5629C>T (n.745-5629C>T)
c.152-5629C>T
c.5620C>T (p.Pro1874Ser)
c.5425C>T (p.Pro1809Ser)
c.5593C>T (p.Pro1865Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280820G>CCA397153179ANKRD11c.5722C>G (p.Pro1908Ala)
c.*5525C>G (n.*5525C>G)
c.745-5629C>G (n.745-5629C>G)
c.152-5629C>G
c.5620C>G (p.Pro1874Ala)
c.5425C>G (p.Pro1809Ala)
c.5593C>G (p.Pro1865Ala)
gnomAD v4
16g.89280820G=CA2241587693ANKRD11c.5722C= (p.Pro1908=)
c.*5525C= (n.*5525C=)
c.745-5629C= (n.745-5629C=)
c.152-5629C=
c.5620C= (p.Pro1874=)
c.5425C= (p.Pro1809=)
c.5593C= (p.Pro1865=)
16g.89280820G>TCA8241746ANKRD11c.5722C>A (p.Pro1908Thr)
c.*5525C>A (n.*5525C>A)
c.745-5629C>A (n.745-5629C>A)
c.152-5629C>A
c.5620C>A (p.Pro1874Thr)
c.5425C>A (p.Pro1809Thr)
c.5593C>A (p.Pro1865Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280821A=CA2241587694ANKRD11c.5721T= (p.Leu1907=)
c.*5524T= (n.*5524T=)
c.745-5630T= (n.745-5630T=)
c.152-5630T=
c.5619T= (p.Leu1873=)
c.5424T= (p.Leu1808=)
c.5592T= (p.Leu1864=)
16g.89280821A>CCA497373561ANKRD11c.5721T>G (p.Leu1907=)
c.*5524T>G (n.*5524T>G)
c.745-5630T>G (n.745-5630T>G)
c.152-5630T>G
c.5619T>G (p.Leu1873=)
c.5424T>G (p.Leu1808=)
c.5592T>G (p.Leu1864=)
16g.89280821A>GCA8241748ANKRD11c.5721T>C (p.Leu1907=)
c.*5524T>C (n.*5524T>C)
c.745-5630T>C (n.745-5630T>C)
c.152-5630T>C
c.5619T>C (p.Leu1873=)
c.5424T>C (p.Leu1808=)
c.5592T>C (p.Leu1864=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89280821A>TCA497373560ANKRD11c.5721T>A (p.Leu1907=)
c.*5524T>A (n.*5524T>A)
c.745-5630T>A (n.745-5630T>A)
c.152-5630T>A
c.5619T>A (p.Leu1873=)
c.5424T>A (p.Leu1808=)
c.5592T>A (p.Leu1864=)
16g.89280822A>CCA397153180ANKRD11c.5720T>G (p.Leu1907Arg)
c.*5523T>G (n.*5523T>G)
c.745-5631T>G (n.745-5631T>G)
c.152-5631T>G
c.5618T>G (p.Leu1873Arg)
c.5423T>G (p.Leu1808Arg)
c.5591T>G (p.Leu1864Arg)
16g.89280822A>GCA397153181ANKRD11c.5720T>C (p.Leu1907Pro)
c.*5523T>C (n.*5523T>C)
c.745-5631T>C (n.745-5631T>C)
c.152-5631T>C
c.5618T>C (p.Leu1873Pro)
c.5423T>C (p.Leu1808Pro)
c.5591T>C (p.Leu1864Pro)
COSMIC
16g.89280822A>TCA397153182ANKRD11c.5720T>A (p.Leu1907His)
c.*5523T>A (n.*5523T>A)
c.745-5631T>A (n.745-5631T>A)
c.152-5631T>A
c.5618T>A (p.Leu1873His)
c.5423T>A (p.Leu1808His)
c.5591T>A (p.Leu1864His)
16g.89280823G>ACA397153183ANKRD11c.5719C>T (p.Leu1907Phe)
c.*5522C>T (n.*5522C>T)
c.745-5632C>T (n.745-5632C>T)
c.152-5632C>T
c.5617C>T (p.Leu1873Phe)
c.5422C>T (p.Leu1808Phe)
c.5590C>T (p.Leu1864Phe)
dbSNP gnomAD v2 gnomAD v4
16g.89280823G>CCA397153184ANKRD11c.5719C>G (p.Leu1907Val)
c.*5522C>G (n.*5522C>G)
c.745-5632C>G (n.745-5632C>G)
c.152-5632C>G
c.5617C>G (p.Leu1873Val)
c.5422C>G (p.Leu1808Val)
c.5590C>G (p.Leu1864Val)
16g.89280823G=CA2241587695ANKRD11c.5719C= (p.Leu1907=)
c.*5522C= (n.*5522C=)
c.745-5632C= (n.745-5632C=)
c.152-5632C=
c.5617C= (p.Leu1873=)
c.5422C= (p.Leu1808=)
c.5590C= (p.Leu1864=)
16g.89280823G>TCA286513510ANKRD11c.5719C>A (p.Leu1907Ile)
c.*5522C>A (n.*5522C>A)
c.745-5632C>A (n.745-5632C>A)
c.152-5632C>A
c.5617C>A (p.Leu1873Ile)
c.5422C>A (p.Leu1808Ile)
c.5590C>A (p.Leu1864Ile)
dbSNP gnomAD v4
16g.89280824G>ACA497373574ANKRD11c.5718C>T (p.Ala1906=)
c.*5521C>T (n.*5521C>T)
c.745-5633C>T (n.745-5633C>T)
c.152-5633C>T
c.5616C>T (p.Ala1872=)
c.5421C>T (p.Ala1807=)
c.5589C>T (p.Ala1863=)
16g.89280824G>CCA497373572ANKRD11c.5718C>G (p.Ala1906=)
c.*5521C>G (n.*5521C>G)
c.745-5633C>G (n.745-5633C>G)
c.152-5633C>G
c.5616C>G (p.Ala1872=)
c.5421C>G (p.Ala1807=)
c.5589C>G (p.Ala1863=)
gnomAD v4
16g.89280824G>TCA497373570ANKRD11c.5718C>A (p.Ala1906=)
c.*5521C>A (n.*5521C>A)
c.745-5633C>A (n.745-5633C>A)
c.152-5633C>A
c.5616C>A (p.Ala1872=)
c.5421C>A (p.Ala1807=)
c.5589C>A (p.Ala1863=)
16g.89280825G>ACA397153185ANKRD11c.5717C>T (p.Ala1906Val)
c.*5520C>T (n.*5520C>T)
c.745-5634C>T (n.745-5634C>T)
c.152-5634C>T
c.5615C>T (p.Ala1872Val)
c.5420C>T (p.Ala1807Val)
c.5588C>T (p.Ala1863Val)
gnomAD v4
16g.89280825G>CCA397153186ANKRD11c.5717C>G (p.Ala1906Gly)
c.*5520C>G (n.*5520C>G)
c.745-5634C>G (n.745-5634C>G)
c.152-5634C>G
c.5615C>G (p.Ala1872Gly)
c.5420C>G (p.Ala1807Gly)
c.5588C>G (p.Ala1863Gly)
16g.89280825G>TCA397153187ANKRD11c.5717C>A (p.Ala1906Asp)
c.*5520C>A (n.*5520C>A)
c.745-5634C>A (n.745-5634C>A)
c.152-5634C>A
c.5615C>A (p.Ala1872Asp)
c.5420C>A (p.Ala1807Asp)
c.5588C>A (p.Ala1863Asp)
16g.89280826C>ACA397153190ANKRD11c.5716G>T (p.Ala1906Ser)
c.*5519G>T (n.*5519G>T)
c.745-5635G>T (n.745-5635G>T)
c.152-5635G>T
c.5614G>T (p.Ala1872Ser)
c.5419G>T (p.Ala1807Ser)
c.5587G>T (p.Ala1863Ser)
gnomAD v4
16g.89280826C=CA2241587696ANKRD11c.5716G= (p.Ala1906=)
c.*5519G= (n.*5519G=)
c.745-5635G= (n.745-5635G=)
c.152-5635G=
c.5614G= (p.Ala1872=)
c.5419G= (p.Ala1807=)
c.5587G= (p.Ala1863=)
16g.89280826C>GCA397153189ANKRD11c.5716G>C (p.Ala1906Pro)
c.*5519G>C (n.*5519G>C)
c.745-5635G>C (n.745-5635G>C)
c.152-5635G>C
c.5614G>C (p.Ala1872Pro)
c.5419G>C (p.Ala1807Pro)
c.5587G>C (p.Ala1863Pro)
gnomAD v4
16g.89280826C>TCA397153188ANKRD11c.5716G>A (p.Ala1906Thr)
c.*5519G>A (n.*5519G>A)
c.745-5635G>A (n.745-5635G>A)
c.152-5635G>A
c.5614G>A (p.Ala1872Thr)
c.5419G>A (p.Ala1807Thr)
c.5587G>A (p.Ala1863Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280827C>ACA497373582ANKRD11c.5715G>T (p.Gly1905=)
c.*5518G>T (n.*5518G>T)
c.745-5636G>T (n.745-5636G>T)
c.152-5636G>T
c.5613G>T (p.Gly1871=)
c.5418G>T (p.Gly1806=)
c.5586G>T (p.Gly1862=)
gnomAD v4
16g.89280827C=CA2241587697ANKRD11c.5715G= (p.Gly1905=)
c.*5518G= (n.*5518G=)
c.745-5636G= (n.745-5636G=)
c.152-5636G=
c.5613G= (p.Gly1871=)
c.5418G= (p.Gly1806=)
c.5586G= (p.Gly1862=)
16g.89280827C>GCA8241749ANKRD11c.5715G>C (p.Gly1905=)
c.*5518G>C (n.*5518G>C)
c.745-5636G>C (n.745-5636G>C)
c.152-5636G>C
c.5613G>C (p.Gly1871=)
c.5418G>C (p.Gly1806=)
c.5586G>C (p.Gly1862=)
dbSNP ExAC gnomAD v2
16g.89280827C>TCA497373579ANKRD11c.5715G>A (p.Gly1905=)
c.*5518G>A (n.*5518G>A)
c.745-5636G>A (n.745-5636G>A)
c.152-5636G>A
c.5613G>A (p.Gly1871=)
c.5418G>A (p.Gly1806=)
c.5586G>A (p.Gly1862=)
gnomAD v4
16g.89280828C>ACA397153191ANKRD11c.5714G>T (p.Gly1905Val)
c.*5517G>T (n.*5517G>T)
c.745-5637G>T (n.745-5637G>T)
c.152-5637G>T
c.5612G>T (p.Gly1871Val)
c.5417G>T (p.Gly1806Val)
c.5585G>T (p.Gly1862Val)
gnomAD v4
16g.89280828C>GCA397153193ANKRD11c.5714G>C (p.Gly1905Ala)
c.*5517G>C (n.*5517G>C)
c.745-5637G>C (n.745-5637G>C)
c.152-5637G>C
c.5612G>C (p.Gly1871Ala)
c.5417G>C (p.Gly1806Ala)
c.5585G>C (p.Gly1862Ala)
16g.89280828C>TCA397153192ANKRD11c.5714G>A (p.Gly1905Glu)
c.*5517G>A (n.*5517G>A)
c.745-5637G>A (n.745-5637G>A)
c.152-5637G>A
c.5612G>A (p.Gly1871Glu)
c.5417G>A (p.Gly1806Glu)
c.5585G>A (p.Gly1862Glu)
gnomAD v4
16g.89280829C>ACA397153194ANKRD11c.5713G>T (p.Gly1905Trp)
c.*5516G>T (n.*5516G>T)
c.745-5638G>T (n.745-5638G>T)
c.152-5638G>T
c.5611G>T (p.Gly1871Trp)
c.5416G>T (p.Gly1806Trp)
c.5584G>T (p.Gly1862Trp)
gnomAD v4
16g.89280829C>GCA397153196ANKRD11c.5713G>C (p.Gly1905Arg)
c.*5516G>C (n.*5516G>C)
c.745-5638G>C (n.745-5638G>C)
c.152-5638G>C
c.5611G>C (p.Gly1871Arg)
c.5416G>C (p.Gly1806Arg)
c.5584G>C (p.Gly1862Arg)
ClinVar
16g.89280829C>TCA397153195ANKRD11c.5713G>A (p.Gly1905Arg)
c.*5516G>A (n.*5516G>A)
c.745-5638G>A (n.745-5638G>A)
c.152-5638G>A
c.5611G>A (p.Gly1871Arg)
c.5416G>A (p.Gly1806Arg)
c.5584G>A (p.Gly1862Arg)
16g.89280829_89280830insACA2695223940ANKRD11c.5712_5713insT (p.Gly1905TrpfsTer?)
c.*5515_*5516insT (n.*5515_*5516insT)
c.745-5639_745-5638insT (n.745-5639_745-5638insT)
c.152-5639_152-5638insT
c.5610_5611insT (p.Gly1871TrpfsTer?)
c.5415_5416insT (p.Gly1806TrpfsTer?)
c.5583_5584insT (p.Gly1862TrpfsTer?)
16g.89280830T>ACA397153197ANKRD11c.5712A>T (p.Glu1904Asp)
c.*5515A>T (n.*5515A>T)
c.745-5639A>T (n.745-5639A>T)
c.152-5639A>T
c.5610A>T (p.Glu1870Asp)
c.5415A>T (p.Glu1805Asp)
c.5583A>T (p.Glu1861Asp)
16g.89280830T>CCA497373586ANKRD11c.5712A>G (p.Glu1904=)
c.*5515A>G (n.*5515A>G)
c.745-5639A>G (n.745-5639A>G)
c.152-5639A>G
c.5610A>G (p.Glu1870=)
c.5415A>G (p.Glu1805=)
c.5583A>G (p.Glu1861=)
16g.89280830T>GCA397153198ANKRD11c.5712A>C (p.Glu1904Asp)
c.*5515A>C (n.*5515A>C)
c.745-5639A>C (n.745-5639A>C)
c.152-5639A>C
c.5610A>C (p.Glu1870Asp)
c.5415A>C (p.Glu1805Asp)
c.5583A>C (p.Glu1861Asp)
dbSNP gnomAD v2 gnomAD v4
16g.89280830T=CA2241587698ANKRD11c.5712A= (p.Glu1904=)
c.*5515A= (n.*5515A=)
c.745-5639A= (n.745-5639A=)
c.152-5639A=
c.5610A= (p.Glu1870=)
c.5415A= (p.Glu1805=)
c.5583A= (p.Glu1861=)
16g.89280831T>ACA397153199ANKRD11c.5711A>T (p.Glu1904Val)
c.*5514A>T (n.*5514A>T)
c.745-5640A>T (n.745-5640A>T)
c.152-5640A>T
c.5609A>T (p.Glu1870Val)
c.5414A>T (p.Glu1805Val)
c.5582A>T (p.Glu1861Val)
16g.89280831T>CCA397153201ANKRD11c.5711A>G (p.Glu1904Gly)
c.*5514A>G (n.*5514A>G)
c.745-5640A>G (n.745-5640A>G)
c.152-5640A>G
c.5609A>G (p.Glu1870Gly)
c.5414A>G (p.Glu1805Gly)
c.5582A>G (p.Glu1861Gly)
dbSNP gnomAD v4
16g.89280831T>GCA397153200ANKRD11c.5711A>C (p.Glu1904Ala)
c.*5514A>C (n.*5514A>C)
c.745-5640A>C (n.745-5640A>C)
c.152-5640A>C
c.5609A>C (p.Glu1870Ala)
c.5414A>C (p.Glu1805Ala)
c.5582A>C (p.Glu1861Ala)
16g.89280831T=CA2241587699ANKRD11c.5711A= (p.Glu1904=)
c.*5514A= (n.*5514A=)
c.745-5640A= (n.745-5640A=)
c.152-5640A=
c.5609A= (p.Glu1870=)
c.5414A= (p.Glu1805=)
c.5582A= (p.Glu1861=)
16g.89280832C>ACA397153202ANKRD11c.5710G>T (p.Glu1904Ter)
c.*5513G>T (n.*5513G>T)
c.745-5641G>T (n.745-5641G>T)
c.152-5641G>T
c.5608G>T (p.Glu1870Ter)
c.5413G>T (p.Glu1805Ter)
c.5581G>T (p.Glu1861Ter)
gnomAD v4
16g.89280832C=CA2241587700ANKRD11c.5710G= (p.Glu1904=)
c.*5513G= (n.*5513G=)
c.745-5641G= (n.745-5641G=)
c.152-5641G=
c.5608G= (p.Glu1870=)
c.5413G= (p.Glu1805=)
c.5581G= (p.Glu1861=)
16g.89280832C>GCA397153203ANKRD11c.5710G>C (p.Glu1904Gln)
c.*5513G>C (n.*5513G>C)
c.745-5641G>C (n.745-5641G>C)
c.152-5641G>C
c.5608G>C (p.Glu1870Gln)
c.5413G>C (p.Glu1805Gln)
c.5581G>C (p.Glu1861Gln)
gnomAD v4
16g.89280832C>TCA286513519ANKRD11c.5710G>A (p.Glu1904Lys)
c.*5513G>A (n.*5513G>A)
c.745-5641G>A (n.745-5641G>A)
c.152-5641G>A
c.5608G>A (p.Glu1870Lys)
c.5413G>A (p.Glu1805Lys)
c.5581G>A (p.Glu1861Lys)
dbSNP gnomAD v2 gnomAD v4
16g.89280833G>ACA497373594ANKRD11c.5709C>T (p.Leu1903=)
c.*5512C>T (n.*5512C>T)
c.745-5642C>T (n.745-5642C>T)
c.152-5642C>T
c.5607C>T (p.Leu1869=)
c.5412C>T (p.Leu1804=)
c.5580C>T (p.Leu1860=)
dbSNP gnomAD v4
16g.89280833G>CCA497373595ANKRD11c.5709C>G (p.Leu1903=)
c.*5512C>G (n.*5512C>G)
c.745-5642C>G (n.745-5642C>G)
c.152-5642C>G
c.5607C>G (p.Leu1869=)
c.5412C>G (p.Leu1804=)
c.5580C>G (p.Leu1860=)
16g.89280833G=CA2241587701ANKRD11c.5709C= (p.Leu1903=)
c.*5512C= (n.*5512C=)
c.745-5642C= (n.745-5642C=)
c.152-5642C=
c.5607C= (p.Leu1869=)
c.5412C= (p.Leu1804=)
c.5580C= (p.Leu1860=)
16g.89280833G>TCA497373596ANKRD11c.5709C>A (p.Leu1903=)
c.*5512C>A (n.*5512C>A)
c.745-5642C>A (n.745-5642C>A)
c.152-5642C>A
c.5607C>A (p.Leu1869=)
c.5412C>A (p.Leu1804=)
c.5580C>A (p.Leu1860=)
16g.89280834A>CCA397153204ANKRD11c.5708T>G (p.Leu1903Arg)
c.*5511T>G (n.*5511T>G)
c.745-5643T>G (n.745-5643T>G)
c.152-5643T>G
c.5606T>G (p.Leu1869Arg)
c.5411T>G (p.Leu1804Arg)
c.5579T>G (p.Leu1860Arg)
16g.89280834A>GCA397153206ANKRD11c.5708T>C (p.Leu1903Pro)
c.*5511T>C (n.*5511T>C)
c.745-5643T>C (n.745-5643T>C)
c.152-5643T>C
c.5606T>C (p.Leu1869Pro)
c.5411T>C (p.Leu1804Pro)
c.5579T>C (p.Leu1860Pro)
16g.89280834A>TCA397153205ANKRD11c.5708T>A (p.Leu1903His)
c.*5511T>A (n.*5511T>A)
c.745-5643T>A (n.745-5643T>A)
c.152-5643T>A
c.5606T>A (p.Leu1869His)
c.5411T>A (p.Leu1804His)
c.5579T>A (p.Leu1860His)
16g.89280835G>ACA397153207ANKRD11c.5707C>T (p.Leu1903Phe)
c.*5510C>T (n.*5510C>T)
c.745-5644C>T (n.745-5644C>T)
c.152-5644C>T
c.5605C>T (p.Leu1869Phe)
c.5410C>T (p.Leu1804Phe)
c.5578C>T (p.Leu1860Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89280835G>CCA397153208ANKRD11c.5707C>G (p.Leu1903Val)
c.*5510C>G (n.*5510C>G)
c.745-5644C>G (n.745-5644C>G)
c.152-5644C>G
c.5605C>G (p.Leu1869Val)
c.5410C>G (p.Leu1804Val)
c.5578C>G (p.Leu1860Val)
16g.89280835G=CA2241587702ANKRD11c.5707C= (p.Leu1903=)
c.*5510C= (n.*5510C=)
c.745-5644C= (n.745-5644C=)
c.152-5644C=
c.5605C= (p.Leu1869=)
c.5410C= (p.Leu1804=)
c.5578C= (p.Leu1860=)
16g.89280835G>TCA397153209ANKRD11c.5707C>A (p.Leu1903Ile)
c.*5510C>A (n.*5510C>A)
c.745-5644C>A (n.745-5644C>A)
c.152-5644C>A
c.5605C>A (p.Leu1869Ile)
c.5410C>A (p.Leu1804Ile)
c.5578C>A (p.Leu1860Ile)
16g.89280836G>ACA497373601ANKRD11c.5706C>T (p.Ser1902=)
c.*5509C>T (n.*5509C>T)
c.745-5645C>T (n.745-5645C>T)
c.152-5645C>T
c.5604C>T (p.Ser1868=)
c.5409C>T (p.Ser1803=)
c.5577C>T (p.Ser1859=)
dbSNP gnomAD v4
16g.89280836G>CCA497373605ANKRD11c.5706C>G (p.Ser1902=)
c.*5509C>G (n.*5509C>G)
c.745-5645C>G (n.745-5645C>G)
c.152-5645C>G
c.5604C>G (p.Ser1868=)
c.5409C>G (p.Ser1803=)
c.5577C>G (p.Ser1859=)
16g.89280836G=CA2241587703ANKRD11c.5706C= (p.Ser1902=)
c.*5509C= (n.*5509C=)
c.745-5645C= (n.745-5645C=)
c.152-5645C=
c.5604C= (p.Ser1868=)
c.5409C= (p.Ser1803=)
c.5577C= (p.Ser1859=)
16g.89280836G>TCA497373606ANKRD11c.5706C>A (p.Ser1902=)
c.*5509C>A (n.*5509C>A)
c.745-5645C>A (n.745-5645C>A)
c.152-5645C>A
c.5604C>A (p.Ser1868=)
c.5409C>A (p.Ser1803=)
c.5577C>A (p.Ser1859=)
16g.89280837G>ACA397153210ANKRD11c.5705C>T (p.Ser1902Phe)
c.*5508C>T (n.*5508C>T)
c.745-5646C>T (n.745-5646C>T)
c.152-5646C>T
c.5603C>T (p.Ser1868Phe)
c.5408C>T (p.Ser1803Phe)
c.5576C>T (p.Ser1859Phe)
16g.89280837G>CCA397153211ANKRD11c.5705C>G (p.Ser1902Cys)
c.*5508C>G (n.*5508C>G)
c.745-5646C>G (n.745-5646C>G)
c.152-5646C>G
c.5603C>G (p.Ser1868Cys)
c.5408C>G (p.Ser1803Cys)
c.5576C>G (p.Ser1859Cys)
16g.89280837G>TCA397153212ANKRD11c.5705C>A (p.Ser1902Tyr)
c.*5508C>A (n.*5508C>A)
c.745-5646C>A (n.745-5646C>A)
c.152-5646C>A
c.5603C>A (p.Ser1868Tyr)
c.5408C>A (p.Ser1803Tyr)
c.5576C>A (p.Ser1859Tyr)
16g.89280838A>CCA397153213ANKRD11c.5704T>G (p.Ser1902Ala)
c.*5507T>G (n.*5507T>G)
c.745-5647T>G (n.745-5647T>G)
c.152-5647T>G
c.5602T>G (p.Ser1868Ala)
c.5407T>G (p.Ser1803Ala)
c.5575T>G (p.Ser1859Ala)
16g.89280838A>GCA397153214ANKRD11c.5704T>C (p.Ser1902Pro)
c.*5507T>C (n.*5507T>C)
c.745-5647T>C (n.745-5647T>C)
c.152-5647T>C
c.5602T>C (p.Ser1868Pro)
c.5407T>C (p.Ser1803Pro)
c.5575T>C (p.Ser1859Pro)
16g.89280838A>TCA397153215ANKRD11c.5704T>A (p.Ser1902Thr)
c.*5507T>A (n.*5507T>A)
c.745-5647T>A (n.745-5647T>A)
c.152-5647T>A
c.5602T>A (p.Ser1868Thr)
c.5407T>A (p.Ser1803Thr)
c.5575T>A (p.Ser1859Thr)
16g.89280839A>CCA497373616ANKRD11c.5703T>G (p.Pro1901=)
c.*5506T>G (n.*5506T>G)
c.745-5648T>G (n.745-5648T>G)
c.152-5648T>G
c.5601T>G (p.Pro1867=)
c.5406T>G (p.Pro1802=)
c.5574T>G (p.Pro1858=)
16g.89280839A>GCA497373618ANKRD11c.5703T>C (p.Pro1901=)
c.*5506T>C (n.*5506T>C)
c.745-5648T>C (n.745-5648T>C)
c.152-5648T>C
c.5601T>C (p.Pro1867=)
c.5406T>C (p.Pro1802=)
c.5574T>C (p.Pro1858=)
gnomAD v4
16g.89280839A>TCA497373620ANKRD11c.5703T>A (p.Pro1901=)
c.*5506T>A (n.*5506T>A)
c.745-5648T>A (n.745-5648T>A)
c.152-5648T>A
c.5601T>A (p.Pro1867=)
c.5406T>A (p.Pro1802=)
c.5574T>A (p.Pro1858=)
16g.89280840G>ACA397153216ANKRD11c.5702C>T (p.Pro1901Leu)
c.*5505C>T (n.*5505C>T)
c.745-5649C>T (n.745-5649C>T)
c.152-5649C>T
c.5600C>T (p.Pro1867Leu)
c.5405C>T (p.Pro1802Leu)
c.5573C>T (p.Pro1858Leu)
gnomAD v4
16g.89280840G>CCA397153217ANKRD11c.5702C>G (p.Pro1901Arg)
c.*5505C>G (n.*5505C>G)
c.745-5649C>G (n.745-5649C>G)
c.152-5649C>G
c.5600C>G (p.Pro1867Arg)
c.5405C>G (p.Pro1802Arg)
c.5573C>G (p.Pro1858Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89280840G=CA2241587704ANKRD11c.5702C= (p.Pro1901=)
c.*5505C= (n.*5505C=)
c.745-5649C= (n.745-5649C=)
c.152-5649C=
c.5600C= (p.Pro1867=)
c.5405C= (p.Pro1802=)
c.5573C= (p.Pro1858=)
16g.89280840G>TCA397153218ANKRD11c.5702C>A (p.Pro1901His)
c.*5505C>A (n.*5505C>A)
c.745-5649C>A (n.745-5649C>A)
c.152-5649C>A
c.5600C>A (p.Pro1867His)
c.5405C>A (p.Pro1802His)
c.5573C>A (p.Pro1858His)
gnomAD v4
16g.89280841G>ACA397153219ANKRD11c.5701C>T (p.Pro1901Ser)
c.*5504C>T (n.*5504C>T)
c.745-5650C>T (n.745-5650C>T)
c.152-5650C>T
c.5599C>T (p.Pro1867Ser)
c.5404C>T (p.Pro1802Ser)
c.5572C>T (p.Pro1858Ser)
gnomAD v4
16g.89280841G>CCA397153221ANKRD11c.5701C>G (p.Pro1901Ala)
c.*5504C>G (n.*5504C>G)
c.745-5650C>G (n.745-5650C>G)
c.152-5650C>G
c.5599C>G (p.Pro1867Ala)
c.5404C>G (p.Pro1802Ala)
c.5572C>G (p.Pro1858Ala)
16g.89280841G>TCA397153220ANKRD11c.5701C>A (p.Pro1901Thr)
c.*5504C>A (n.*5504C>A)
c.745-5650C>A (n.745-5650C>A)
c.152-5650C>A
c.5599C>A (p.Pro1867Thr)
c.5404C>A (p.Pro1802Thr)
c.5572C>A (p.Pro1858Thr)
16g.89280842A>CCA497373625ANKRD11c.5700T>G (p.Val1900=)
c.*5503T>G (n.*5503T>G)
c.745-5651T>G (n.745-5651T>G)
c.152-5651T>G
c.5598T>G (p.Val1866=)
c.5403T>G (p.Val1801=)
c.5571T>G (p.Val1857=)
16g.89280842A>GCA497373626ANKRD11c.5700T>C (p.Val1900=)
c.*5503T>C (n.*5503T>C)
c.745-5651T>C (n.745-5651T>C)
c.152-5651T>C
c.5598T>C (p.Val1866=)
c.5403T>C (p.Val1801=)
c.5571T>C (p.Val1857=)
16g.89280842A>TCA497373624ANKRD11c.5700T>A (p.Val1900=)
c.*5503T>A (n.*5503T>A)
c.745-5651T>A (n.745-5651T>A)
c.152-5651T>A
c.5598T>A (p.Val1866=)
c.5403T>A (p.Val1801=)
c.5571T>A (p.Val1857=)
16g.89280843A>CCA397153222ANKRD11c.5699T>G (p.Val1900Gly)
c.*5502T>G (n.*5502T>G)
c.745-5652T>G (n.745-5652T>G)
c.152-5652T>G
c.5597T>G (p.Val1866Gly)
c.5402T>G (p.Val1801Gly)
c.5570T>G (p.Val1857Gly)
16g.89280843A>GCA397153223ANKRD11c.5699T>C (p.Val1900Ala)
c.*5502T>C (n.*5502T>C)
c.745-5652T>C (n.745-5652T>C)
c.152-5652T>C
c.5597T>C (p.Val1866Ala)
c.5402T>C (p.Val1801Ala)
c.5570T>C (p.Val1857Ala)
16g.89280843A>TCA397153224ANKRD11c.5699T>A (p.Val1900Asp)
c.*5502T>A (n.*5502T>A)
c.745-5652T>A (n.745-5652T>A)
c.152-5652T>A
c.5597T>A (p.Val1866Asp)
c.5402T>A (p.Val1801Asp)
c.5570T>A (p.Val1857Asp)
16g.89280844C>ACA397153225ANKRD11c.5698G>T (p.Val1900Phe)
c.*5501G>T (n.*5501G>T)
c.745-5653G>T (n.745-5653G>T)
c.152-5653G>T
c.5596G>T (p.Val1866Phe)
c.5401G>T (p.Val1801Phe)
c.5569G>T (p.Val1857Phe)
16g.89280844C=CA2241587705ANKRD11c.5698G= (p.Val1900=)
c.*5501G= (n.*5501G=)
c.745-5653G= (n.745-5653G=)
c.152-5653G=
c.5596G= (p.Val1866=)
c.5401G= (p.Val1801=)
c.5569G= (p.Val1857=)
16g.89280844C>GCA397153226ANKRD11c.5698G>C (p.Val1900Leu)
c.*5501G>C (n.*5501G>C)
c.745-5653G>C (n.745-5653G>C)
c.152-5653G>C
c.5596G>C (p.Val1866Leu)
c.5401G>C (p.Val1801Leu)
c.5569G>C (p.Val1857Leu)
16g.89280844C>TCA397153227ANKRD11c.5698G>A (p.Val1900Ile)
c.*5501G>A (n.*5501G>A)
c.745-5653G>A (n.745-5653G>A)
c.152-5653G>A
c.5596G>A (p.Val1866Ile)
c.5401G>A (p.Val1801Ile)
c.5569G>A (p.Val1857Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89280845C>ACA497373637ANKRD11c.5697G>T (p.Leu1899=)
c.*5500G>T (n.*5500G>T)
c.745-5654G>T (n.745-5654G>T)
c.152-5654G>T
c.5595G>T (p.Leu1865=)
c.5400G>T (p.Leu1800=)
c.5568G>T (p.Leu1856=)
16g.89280845C=CA2241587706ANKRD11c.5697G= (p.Leu1899=)
c.*5500G= (n.*5500G=)
c.745-5654G= (n.745-5654G=)
c.152-5654G=
c.5595G= (p.Leu1865=)
c.5400G= (p.Leu1800=)
c.5568G= (p.Leu1856=)
16g.89280845C>GCA497373639ANKRD11c.5697G>C (p.Leu1899=)
c.*5500G>C (n.*5500G>C)
c.745-5654G>C (n.745-5654G>C)
c.152-5654G>C
c.5595G>C (p.Leu1865=)
c.5400G>C (p.Leu1800=)
c.5568G>C (p.Leu1856=)
dbSNP
16g.89280845C>TCA8241750ANKRD11c.5697G>A (p.Leu1899=)
c.*5500G>A (n.*5500G>A)
c.745-5654G>A (n.745-5654G>A)
c.152-5654G>A
c.5595G>A (p.Leu1865=)
c.5400G>A (p.Leu1800=)
c.5568G>A (p.Leu1856=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280845_89280856delinsTGCTGGTCA2825002457ANKRD11c.5686_5697delinsACCAGCA (p.Ala1896ThrfsTer?)
c.*5489_*5500delinsACCAGCA (n.*5489_*5500delinsACCAGCA)
c.745-5665_745-5654delinsACCAGCA (n.745-5665_745-5654delinsACCAGCA)
c.152-5665_152-5654delinsACCAGCA
c.5584_5595delinsACCAGCA (p.Ala1862ThrfsTer?)
c.5389_5400delinsACCAGCA (p.Ala1797ThrfsTer?)
c.5557_5568delinsACCAGCA (p.Ala1853ThrfsTer?)
ClinVar
16g.89280846A>CCA397153228ANKRD11c.5696T>G (p.Leu1899Arg)
c.*5499T>G (n.*5499T>G)
c.745-5655T>G (n.745-5655T>G)
c.152-5655T>G
c.5594T>G (p.Leu1865Arg)
c.5399T>G (p.Leu1800Arg)
c.5567T>G (p.Leu1856Arg)
16g.89280846A>GCA397153229ANKRD11c.5696T>C (p.Leu1899Pro)
c.*5499T>C (n.*5499T>C)
c.745-5655T>C (n.745-5655T>C)
c.152-5655T>C
c.5594T>C (p.Leu1865Pro)
c.5399T>C (p.Leu1800Pro)
c.5567T>C (p.Leu1856Pro)
gnomAD v4
16g.89280846A>TCA397153230ANKRD11c.5696T>A (p.Leu1899Gln)
c.*5499T>A (n.*5499T>A)
c.745-5655T>A (n.745-5655T>A)
c.152-5655T>A
c.5594T>A (p.Leu1865Gln)
c.5399T>A (p.Leu1800Gln)
c.5567T>A (p.Leu1856Gln)
16g.89280847G>ACA497373641ANKRD11c.5695C>T (p.Leu1899=)
c.*5498C>T (n.*5498C>T)
c.745-5656C>T (n.745-5656C>T)
c.152-5656C>T
c.5593C>T (p.Leu1865=)
c.5398C>T (p.Leu1800=)
c.5566C>T (p.Leu1856=)
16g.89280847G>CCA397153231ANKRD11c.5695C>G (p.Leu1899Val)
c.*5498C>G (n.*5498C>G)
c.745-5656C>G (n.745-5656C>G)
c.152-5656C>G
c.5593C>G (p.Leu1865Val)
c.5398C>G (p.Leu1800Val)
c.5566C>G (p.Leu1856Val)
dbSNP gnomAD v2
16g.89280847G=CA2241587707ANKRD11c.5695C= (p.Leu1899=)
c.*5498C= (n.*5498C=)
c.745-5656C= (n.745-5656C=)
c.152-5656C=
c.5593C= (p.Leu1865=)
c.5398C= (p.Leu1800=)
c.5566C= (p.Leu1856=)
16g.89280847G>TCA397153232ANKRD11c.5695C>A (p.Leu1899Met)
c.*5498C>A (n.*5498C>A)
c.745-5656C>A (n.745-5656C>A)
c.152-5656C>A
c.5593C>A (p.Leu1865Met)
c.5398C>A (p.Leu1800Met)
c.5566C>A (p.Leu1856Met)
16g.89280848C>ACA8241751ANKRD11c.5694G>T (p.Leu1898=)
c.*5497G>T (n.*5497G>T)
c.745-5657G>T (n.745-5657G>T)
c.152-5657G>T
c.5592G>T (p.Leu1864=)
c.5397G>T (p.Leu1799=)
c.5565G>T (p.Leu1855=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89280848C=CA2241587708ANKRD11c.5694G= (p.Leu1898=)
c.*5497G= (n.*5497G=)
c.745-5657G= (n.745-5657G=)
c.152-5657G=
c.5592G= (p.Leu1864=)
c.5397G= (p.Leu1799=)
c.5565G= (p.Leu1855=)
16g.89280848C>GCA497373644ANKRD11c.5694G>C (p.Leu1898=)
c.*5497G>C (n.*5497G>C)
c.745-5657G>C (n.745-5657G>C)
c.152-5657G>C
c.5592G>C (p.Leu1864=)
c.5397G>C (p.Leu1799=)
c.5565G>C (p.Leu1855=)
16g.89280848C>TCA497373642ANKRD11c.5694G>A (p.Leu1898=)
c.*5497G>A (n.*5497G>A)
c.745-5657G>A (n.745-5657G>A)
c.152-5657G>A
c.5592G>A (p.Leu1864=)
c.5397G>A (p.Leu1799=)
c.5565G>A (p.Leu1855=)
ClinVar dbSNP gnomAD v4
16g.89280849A>CCA397153233ANKRD11c.5693T>G (p.Leu1898Arg)
c.*5496T>G (n.*5496T>G)
c.745-5658T>G (n.745-5658T>G)
c.152-5658T>G
c.5591T>G (p.Leu1864Arg)
c.5396T>G (p.Leu1799Arg)
c.5564T>G (p.Leu1855Arg)
16g.89280849A>GCA397153234ANKRD11c.5693T>C (p.Leu1898Pro)
c.*5496T>C (n.*5496T>C)
c.745-5658T>C (n.745-5658T>C)
c.152-5658T>C
c.5591T>C (p.Leu1864Pro)
c.5396T>C (p.Leu1799Pro)
c.5564T>C (p.Leu1855Pro)
16g.89280849A>TCA397153235ANKRD11c.5693T>A (p.Leu1898Gln)
c.*5496T>A (n.*5496T>A)
c.745-5658T>A (n.745-5658T>A)
c.152-5658T>A
c.5591T>A (p.Leu1864Gln)
c.5396T>A (p.Leu1799Gln)
c.5564T>A (p.Leu1855Gln)
gnomAD v4
16g.89280850G>ACA497373649ANKRD11c.5692C>T (p.Leu1898=)
c.*5495C>T (n.*5495C>T)
c.745-5659C>T (n.745-5659C>T)
c.152-5659C>T
c.5590C>T (p.Leu1864=)
c.5395C>T (p.Leu1799=)
c.5563C>T (p.Leu1855=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89280850G>CCA397153236ANKRD11c.5692C>G (p.Leu1898Val)
c.*5495C>G (n.*5495C>G)
c.745-5659C>G (n.745-5659C>G)
c.152-5659C>G
c.5590C>G (p.Leu1864Val)
c.5395C>G (p.Leu1799Val)
c.5563C>G (p.Leu1855Val)
16g.89280850G=CA2241587709ANKRD11c.5692C= (p.Leu1898=)
c.*5495C= (n.*5495C=)
c.745-5659C= (n.745-5659C=)
c.152-5659C=
c.5590C= (p.Leu1864=)
c.5395C= (p.Leu1799=)
c.5563C= (p.Leu1855=)
16g.89280850G>TCA397153237ANKRD11c.5692C>A (p.Leu1898Met)
c.*5495C>A (n.*5495C>A)
c.745-5659C>A (n.745-5659C>A)
c.152-5659C>A
c.5590C>A (p.Leu1864Met)
c.5395C>A (p.Leu1799Met)
c.5563C>A (p.Leu1855Met)
gnomAD v4
16g.89280851C>ACA397153238ANKRD11c.5691G>T (p.Glu1897Asp)
c.*5494G>T (n.*5494G>T)
c.745-5660G>T (n.745-5660G>T)
c.152-5660G>T
c.5589G>T (p.Glu1863Asp)
c.5394G>T (p.Glu1798Asp)
c.5562G>T (p.Glu1854Asp)
16g.89280851C=CA2241587710ANKRD11c.5691G= (p.Glu1897=)
c.*5494G= (n.*5494G=)
c.745-5660G= (n.745-5660G=)
c.152-5660G=
c.5589G= (p.Glu1863=)
c.5394G= (p.Glu1798=)
c.5562G= (p.Glu1854=)
16g.89280851C>GCA397153239ANKRD11c.5691G>C (p.Glu1897Asp)
c.*5494G>C (n.*5494G>C)
c.745-5660G>C (n.745-5660G>C)
c.152-5660G>C
c.5589G>C (p.Glu1863Asp)
c.5394G>C (p.Glu1798Asp)
c.5562G>C (p.Glu1854Asp)
dbSNP
16g.89280851C>TCA497373651ANKRD11c.5691G>A (p.Glu1897=)
c.*5494G>A (n.*5494G>A)
c.745-5660G>A (n.745-5660G>A)
c.152-5660G>A
c.5589G>A (p.Glu1863=)
c.5394G>A (p.Glu1798=)
c.5562G>A (p.Glu1854=)
16g.89280852T>ACA397153240ANKRD11c.5690A>T (p.Glu1897Val)
c.*5493A>T (n.*5493A>T)
c.745-5661A>T (n.745-5661A>T)
c.152-5661A>T
c.5588A>T (p.Glu1863Val)
c.5393A>T (p.Glu1798Val)
c.5561A>T (p.Glu1854Val)
16g.89280852T>CCA397153241ANKRD11c.5690A>G (p.Glu1897Gly)
c.*5493A>G (n.*5493A>G)
c.745-5661A>G (n.745-5661A>G)
c.152-5661A>G
c.5588A>G (p.Glu1863Gly)
c.5393A>G (p.Glu1798Gly)
c.5561A>G (p.Glu1854Gly)
16g.89280852T>GCA397153242ANKRD11c.5690A>C (p.Glu1897Ala)
c.*5493A>C (n.*5493A>C)
c.745-5661A>C (n.745-5661A>C)
c.152-5661A>C
c.5588A>C (p.Glu1863Ala)
c.5393A>C (p.Glu1798Ala)
c.5561A>C (p.Glu1854Ala)

Number of alleles fetched