Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.60509172_60510205delCA915948932C14orf39,SIX6c.-227_572+235del
c.-144+5194_-144+6227del (n.-144+5194_-144+6227del)
 ClinVar
14g.60509904dupCA2575582719C14orf39,SIX6c.506dup (p.Thr170TyrfsTer?)
c.-144+5494dup (n.-144+5494dup)
14g.60509903C>ACA390087454C14orf39,SIX6c.505C>A (p.Pro169Thr)
c.-144+5492G>T (n.-144+5492G>T)
 gnomAD v4
14g.60509903C>GCA390087457C14orf39,SIX6c.505C>G (p.Pro169Ala)
c.-144+5492G>C (n.-144+5492G>C)
14g.60509903C>TCA390087455C14orf39,SIX6c.505C>T (p.Pro169Ser)
c.-144+5492G>A (n.-144+5492G>A)
14g.60509904C>ACA390087458C14orf39,SIX6c.506C>A (p.Pro169His)
c.-144+5491G>T (n.-144+5491G>T)
14g.60509904C=CA2140829102C14orf39,SIX6c.506C= (p.Pro169=)
c.-144+5491G= (n.-144+5491G=)
14g.60509904C>GCA390087460C14orf39,SIX6c.506C>G (p.Pro169Arg)
c.-144+5491G>C (n.-144+5491G>C)
14g.60509904C>TCA7212602C14orf39,SIX6c.506C>T (p.Pro169Leu)
c.-144+5491G>A (n.-144+5491G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60509905T>ACA486814159C14orf39,SIX6c.507T>A (p.Pro169=)
c.-144+5490A>T (n.-144+5490A>T)
14g.60509905T>CCA486814157C14orf39,SIX6c.507T>C (p.Pro169=)
c.-144+5490A>G (n.-144+5490A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.60509905T>GCA486814158C14orf39,SIX6c.507T>G (p.Pro169=)
c.-144+5490A>C (n.-144+5490A>C)
14g.60509905T=CA2140829108C14orf39,SIX6c.507T= (p.Pro169=)
c.-144+5490A= (n.-144+5490A=)
14g.60509906A>CCA390087461C14orf39,SIX6c.508A>C (p.Thr170Pro)
c.-144+5489T>G (n.-144+5489T>G)
14g.60509906A>GCA390087462C14orf39,SIX6c.508A>G (p.Thr170Ala)
c.-144+5489T>C (n.-144+5489T>C)
14g.60509906A>TCA390087463C14orf39,SIX6c.508A>T (p.Thr170Ser)
c.-144+5489T>A (n.-144+5489T>A)
14g.60509907C>ACA390087464C14orf39,SIX6c.509C>A (p.Thr170Lys)
c.-144+5488G>T (n.-144+5488G>T)
14g.60509907C=CA2140829117C14orf39,SIX6c.509C= (p.Thr170=)
c.-144+5488G= (n.-144+5488G=)
14g.60509907C>GCA390087465C14orf39,SIX6c.509C>G (p.Thr170Arg)
c.-144+5488G>C (n.-144+5488G>C)
14g.60509907C>TCA390087466C14orf39,SIX6c.509C>T (p.Thr170Met)
c.-144+5488G>A (n.-144+5488G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.60509908G>ACA486814160C14orf39,SIX6c.510G>A (p.Thr170=)
c.-144+5487C>T (n.-144+5487C>T)
 gnomAD v4
14g.60509908G>CCA486814162C14orf39,SIX6c.510G>C (p.Thr170=)
c.-144+5487C>G (n.-144+5487C>G)
 gnomAD v4
14g.60509908G>TCA486814161C14orf39,SIX6c.510G>T (p.Thr170=)
c.-144+5487C>A (n.-144+5487C>A)
14g.60509909C>ACA390087467C14orf39,SIX6c.511C>A (p.Gln171Lys)
c.-144+5486G>T (n.-144+5486G>T)
 gnomAD v4
14g.60509909C>GCA390087468C14orf39,SIX6c.511C>G (p.Gln171Glu)
c.-144+5486G>C (n.-144+5486G>C)
14g.60509909C>TCA390087469C14orf39,SIX6c.511C>T (p.Gln171Ter)
c.-144+5486G>A (n.-144+5486G>A)
14g.60509910A=CA2140829120C14orf39,SIX6c.512A= (p.Gln171=)
c.-144+5485T= (n.-144+5485T=)
14g.60509910A>CCA390087471C14orf39,SIX6c.512A>C (p.Gln171Pro)
c.-144+5485T>G (n.-144+5485T>G)
14g.60509910A>GCA262195817C14orf39,SIX6c.512A>G (p.Gln171Arg)
c.-144+5485T>C (n.-144+5485T>C)
 dbSNP
14g.60509910A>TCA390087470C14orf39,SIX6c.512A>T (p.Gln171Leu)
c.-144+5485T>A (n.-144+5485T>A)
14g.60509911G>ACA486814163C14orf39,SIX6c.513G>A (p.Gln171=)
c.-144+5484C>T (n.-144+5484C>T)
 gnomAD v4
14g.60509911G>CCA390087473C14orf39,SIX6c.513G>C (p.Gln171His)
c.-144+5484C>G (n.-144+5484C>G)
14g.60509911G>TCA390087474C14orf39,SIX6c.513G>T (p.Gln171His)
c.-144+5484C>A (n.-144+5484C>A)
14g.60509912G>ACA390087476C14orf39,SIX6c.514G>A (p.Val172Met)
c.-144+5483C>T (n.-144+5483C>T)
14g.60509912G>CCA390087478C14orf39,SIX6c.514G>C (p.Val172Leu)
c.-144+5483C>G (n.-144+5483C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509912G=CA2140829123C14orf39,SIX6c.514G= (p.Val172=)
c.-144+5483C= (n.-144+5483C=)
14g.60509912G>TCA390087479C14orf39,SIX6c.514G>T (p.Val172Leu)
c.-144+5483C>A (n.-144+5483C>A)
14g.60509913T>ACA390087481C14orf39,SIX6c.515T>A (p.Val172Glu)
c.-144+5482A>T (n.-144+5482A>T)
14g.60509913T>CCA390087482C14orf39,SIX6c.515T>C (p.Val172Ala)
c.-144+5482A>G (n.-144+5482A>G)
 ClinVar
14g.60509913T>GCA390087483C14orf39,SIX6c.515T>G (p.Val172Gly)
c.-144+5482A>C (n.-144+5482A>C)
14g.60509914G>ACA486814164C14orf39,SIX6c.516G>A (p.Val172=)
c.-144+5481C>T (n.-144+5481C>T)
14g.60509914G>CCA486814165C14orf39,SIX6c.516G>C (p.Val172=)
c.-144+5481C>G (n.-144+5481C>G)
14g.60509914G>TCA486814166C14orf39,SIX6c.516G>T (p.Val172=)
c.-144+5481C>A (n.-144+5481C>A)
14g.60509915G>ACA390087484C14orf39,SIX6c.517G>A (p.Gly173Ser)
c.-144+5480C>T (n.-144+5480C>T)
 gnomAD v4
14g.60509915G>CCA390087486C14orf39,SIX6c.517G>C (p.Gly173Arg)
c.-144+5480C>G (n.-144+5480C>G)
14g.60509915G>TCA390087487C14orf39,SIX6c.517G>T (p.Gly173Cys)
c.-144+5480C>A (n.-144+5480C>A)
14g.60509916G>ACA390087490C14orf39,SIX6c.518G>A (p.Gly173Asp)
c.-144+5479C>T (n.-144+5479C>T)
 gnomAD v4
14g.60509916G>CCA390087491C14orf39,SIX6c.518G>C (p.Gly173Ala)
c.-144+5479C>G (n.-144+5479C>G)
 dbSNP gnomAD v2
14g.60509916G=CA2140829126C14orf39,SIX6c.518G= (p.Gly173=)
c.-144+5479C= (n.-144+5479C=)
14g.60509916G>TCA390087488C14orf39,SIX6c.518G>T (p.Gly173Val)
c.-144+5479C>A (n.-144+5479C>A)
 dbSNP gnomAD v2 gnomAD v4
14g.60509917C>ACA486814167C14orf39,SIX6c.519C>A (p.Gly173=)
c.-144+5478G>T (n.-144+5478G>T)
14g.60509917C>GCA486814168C14orf39,SIX6c.519C>G (p.Gly173=)
c.-144+5478G>C (n.-144+5478G>C)
14g.60509917C>TCA486814169C14orf39,SIX6c.519C>T (p.Gly173=)
c.-144+5478G>A (n.-144+5478G>A)
14g.60509918A>CCA390087496C14orf39,SIX6c.520A>C (p.Asn174His)
c.-144+5477T>G (n.-144+5477T>G)
14g.60509918A>GCA390087493C14orf39,SIX6c.520A>G (p.Asn174Asp)
c.-144+5477T>C (n.-144+5477T>C)
14g.60509918A>TCA390087495C14orf39,SIX6c.520A>T (p.Asn174Tyr)
c.-144+5477T>A (n.-144+5477T>A)
14g.60509919A>CCA390087498C14orf39,SIX6c.521A>C (p.Asn174Thr)
c.-144+5476T>G (n.-144+5476T>G)
14g.60509919A>GCA390087499C14orf39,SIX6c.521A>G (p.Asn174Ser)
c.-144+5476T>C (n.-144+5476T>C)
 ClinVar
14g.60509919A>TCA390087501C14orf39,SIX6c.521A>T (p.Asn174Ile)
c.-144+5476T>A (n.-144+5476T>A)
14g.60509920C>ACA390087503C14orf39,SIX6c.522C>A (p.Asn174Lys)
c.-144+5475G>T (n.-144+5475G>T)
14g.60509920C>GCA390087504C14orf39,SIX6c.522C>G (p.Asn174Lys)
c.-144+5475G>C (n.-144+5475G>C)
14g.60509920C>TCA486814170C14orf39,SIX6c.522C>T (p.Asn174=)
c.-144+5475G>A (n.-144+5475G>A)
14g.60509921T>ACA390087505C14orf39,SIX6c.523T>A (p.Trp175Arg)
c.-144+5474A>T (n.-144+5474A>T)
14g.60509921T>CCA390087507C14orf39,SIX6c.523T>C (p.Trp175Arg)
c.-144+5474A>G (n.-144+5474A>G)
 gnomAD v4
14g.60509921T>GCA390087509C14orf39,SIX6c.523T>G (p.Trp175Gly)
c.-144+5474A>C (n.-144+5474A>C)
14g.60509922G>ACA390087510C14orf39,SIX6c.524G>A (p.Trp175Ter)
c.-144+5473C>T (n.-144+5473C>T)
14g.60509922G>CCA390087512C14orf39,SIX6c.524G>C (p.Trp175Ser)
c.-144+5473C>G (n.-144+5473C>G)
 gnomAD v4
14g.60509922G>TCA390087513C14orf39,SIX6c.524G>T (p.Trp175Leu)
c.-144+5473C>A (n.-144+5473C>A)
14g.60509923G>ACA390087514C14orf39,SIX6c.525G>A (p.Trp175Ter)
c.-144+5472C>T (n.-144+5472C>T)
 gnomAD v4
14g.60509923G>CCA390087517C14orf39,SIX6c.525G>C (p.Trp175Cys)
c.-144+5472C>G (n.-144+5472C>G)
14g.60509923G>TCA390087516C14orf39,SIX6c.525G>T (p.Trp175Cys)
c.-144+5472C>A (n.-144+5472C>A)
 gnomAD v4
14g.60509924T>ACA390087519C14orf39,SIX6c.526T>A (p.Phe176Ile)
c.-144+5471A>T (n.-144+5471A>T)
 gnomAD v4
14g.60509924T>CCA390087520C14orf39,SIX6c.526T>C (p.Phe176Leu)
c.-144+5471A>G (n.-144+5471A>G)
14g.60509924T>GCA390087522C14orf39,SIX6c.526T>G (p.Phe176Val)
c.-144+5471A>C (n.-144+5471A>C)
14g.60509925T>ACA390087523C14orf39,SIX6c.527T>A (p.Phe176Tyr)
c.-144+5470A>T (n.-144+5470A>T)
 gnomAD v4
14g.60509925T>CCA390087524C14orf39,SIX6c.527T>C (p.Phe176Ser)
c.-144+5470A>G (n.-144+5470A>G)
14g.60509925T>GCA390087525C14orf39,SIX6c.527T>G (p.Phe176Cys)
c.-144+5470A>C (n.-144+5470A>C)
14g.60509926C>ACA7212603C14orf39,SIX6c.528C>A (p.Phe176Leu)
c.-144+5469G>T (n.-144+5469G>T)
 dbSNP ExAC gnomAD v4
14g.60509926C=CA2140829132C14orf39,SIX6c.528C= (p.Phe176=)
c.-144+5469G= (n.-144+5469G=)
14g.60509926C>GCA390087526C14orf39,SIX6c.528C>G (p.Phe176Leu)
c.-144+5469G>C (n.-144+5469G>C)
 dbSNP
14g.60509926C>TCA486814171C14orf39,SIX6c.528C>T (p.Phe176=)
c.-144+5469G>A (n.-144+5469G>A)
14g.60509927A>CCA390087527C14orf39,SIX6c.529A>C (p.Lys177Gln)
c.-144+5468T>G (n.-144+5468T>G)
14g.60509927A>GCA390087528C14orf39,SIX6c.529A>G (p.Lys177Glu)
c.-144+5468T>C (n.-144+5468T>C)
14g.60509927A>TCA390087529C14orf39,SIX6c.529A>T (p.Lys177Ter)
c.-144+5468T>A (n.-144+5468T>A)
14g.60509931delCA2625125109C14orf39,SIX6c.533del (p.Asn178ThrfsTer?)
c.-144+5468del (n.-144+5468del)
 gnomAD v4
14g.60509928A>CCA390087531C14orf39,SIX6c.530A>C (p.Lys177Thr)
c.-144+5467T>G (n.-144+5467T>G)
14g.60509928A>GCA390087532C14orf39,SIX6c.530A>G (p.Lys177Arg)
c.-144+5467T>C (n.-144+5467T>C)
14g.60509928A>TCA390087530C14orf39,SIX6c.530A>T (p.Lys177Ile)
c.-144+5467T>A (n.-144+5467T>A)
14g.60509929A>CCA390087533C14orf39,SIX6c.531A>C (p.Lys177Asn)
c.-144+5466T>G (n.-144+5466T>G)
14g.60509929A>GCA486814172C14orf39,SIX6c.531A>G (p.Lys177=)
c.-144+5466T>C (n.-144+5466T>C)
14g.60509929A>TCA390087534C14orf39,SIX6c.531A>T (p.Lys177Asn)
c.-144+5466T>A (n.-144+5466T>A)
14g.60509929_60509934delinsAAACCGCA2140829140C14orf39,SIX6c.531_536delinsAAACCG (p.Lys177=)
c.-144+5461_-144+5466delinsCGGTTT (n.-144+5461_-144+5466delinsCGGTTT)
14g.60509930A>CCA390087535C14orf39,SIX6c.532A>C (p.Asn178His)
c.-144+5465T>G (n.-144+5465T>G)
14g.60509930A>GCA390087536C14orf39,SIX6c.532A>G (p.Asn178Asp)
c.-144+5465T>C (n.-144+5465T>C)
14g.60509930A>TCA390087537C14orf39,SIX6c.532A>T (p.Asn178Tyr)
c.-144+5465T>A (n.-144+5465T>A)
14g.60509930_60509934delCA215051C14orf39,SIX6c.532_536del (p.Asn178ProfsTer?)
c.-144+5461_-144+5465del (n.-144+5461_-144+5465del)
 ClinVar dbSNP
14g.60509931A=CA2140829155C14orf39,SIX6c.533A= (p.Asn178=)
c.-144+5464T= (n.-144+5464T=)
14g.60509931A>CCA7212604C14orf39,SIX6c.533A>C (p.Asn178Thr)
c.-144+5464T>G (n.-144+5464T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509931A>GCA390087538C14orf39,SIX6c.533A>G (p.Asn178Ser)
c.-144+5464T>C (n.-144+5464T>C)
14g.60509931A>TCA390087539C14orf39,SIX6c.533A>T (p.Asn178Ile)
c.-144+5464T>A (n.-144+5464T>A)
14g.60509931_60509932insAAACCA262195818C14orf39,SIX6c.533_534insAAAC (p.Asn178LysfsTer?)
c.-144+5463_-144+5464insGTTT (n.-144+5463_-144+5464insGTTT)
 dbSNP
14g.60509932C>ACA390087540C14orf39,SIX6c.534C>A (p.Asn178Lys)
c.-144+5463G>T (n.-144+5463G>T)
14g.60509932C=CA2140829166C14orf39,SIX6c.534C= (p.Asn178=)
c.-144+5463G= (n.-144+5463G=)
14g.60509932C>GCA390087541C14orf39,SIX6c.534C>G (p.Asn178Lys)
c.-144+5463G>C (n.-144+5463G>C)
14g.60509932C>TCA486814173C14orf39,SIX6c.534C>T (p.Asn178=)
c.-144+5463G>A (n.-144+5463G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.60509933dupCA7212605C14orf39,SIX6c.535dup (p.Arg179ProfsTer?)
c.-144+5463dup (n.-144+5463dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509933C>ACA390087544C14orf39,SIX6c.535C>A (p.Arg179Ser)
c.-144+5462G>T (n.-144+5462G>T)
 gnomAD v4
14g.60509933C>GCA390087543C14orf39,SIX6c.535C>G (p.Arg179Gly)
c.-144+5462G>C (n.-144+5462G>C)
14g.60509933C>TCA390087542C14orf39,SIX6c.535C>T (p.Arg179Cys)
c.-144+5462G>A (n.-144+5462G>A)
 gnomAD v4
14g.60509934G>ACA390087545C14orf39,SIX6c.536G>A (p.Arg179His)
c.-144+5461C>T (n.-144+5461C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.60509934G>CCA390087546C14orf39,SIX6c.536G>C (p.Arg179Pro)
c.-144+5461C>G (n.-144+5461C>G)
14g.60509934G=CA2140829172C14orf39,SIX6c.536G= (p.Arg179=)
c.-144+5461C= (n.-144+5461C=)
14g.60509934G>TCA390087547C14orf39,SIX6c.536G>T (p.Arg179Leu)
c.-144+5461C>A (n.-144+5461C>A)
14g.60509935C>ACA486814174C14orf39,SIX6c.537C>A (p.Arg179=)
c.-144+5460G>T (n.-144+5460G>T)
14g.60509935C=CA2140829174C14orf39,SIX6c.537C= (p.Arg179=)
c.-144+5460G= (n.-144+5460G=)
14g.60509935C>GCA486814175C14orf39,SIX6c.537C>G (p.Arg179=)
c.-144+5460G>C (n.-144+5460G>C)
14g.60509935C>TCA262195819C14orf39,SIX6c.537C>T (p.Arg179=)
c.-144+5460G>A (n.-144+5460G>A)
 dbSNP gnomAD v4
14g.60509936C>ACA486814176C14orf39,SIX6c.538C>A (p.Arg180=)
c.-144+5459G>T (n.-144+5459G>T)
14g.60509936C=CA2140829179C14orf39,SIX6c.538C= (p.Arg180=)
c.-144+5459G= (n.-144+5459G=)
14g.60509936C>GCA390087548C14orf39,SIX6c.538C>G (p.Arg180Gly)
c.-144+5459G>C (n.-144+5459G>C)
 gnomAD v4
14g.60509936C>TCA390087549C14orf39,SIX6c.538C>T (p.Arg180Ter)
c.-144+5459G>A (n.-144+5459G>A)
 dbSNP gnomAD v4 COSMIC
14g.60509937G>ACA390087550C14orf39,SIX6c.539G>A (p.Arg180Gln)
c.-144+5458C>T (n.-144+5458C>T)
 gnomAD v4 COSMIC
14g.60509937G>CCA390087551C14orf39,SIX6c.539G>C (p.Arg180Pro)
c.-144+5458C>G (n.-144+5458C>G)
14g.60509937G>TCA390087552C14orf39,SIX6c.539G>T (p.Arg180Leu)
c.-144+5458C>A (n.-144+5458C>A)
 gnomAD v4
14g.60509938A>CCA486814177C14orf39,SIX6c.540A>C (p.Arg180=)
c.-144+5457T>G (n.-144+5457T>G)
14g.60509938A>GCA486814179C14orf39,SIX6c.540A>G (p.Arg180=)
c.-144+5457T>C (n.-144+5457T>C)
14g.60509938A>TCA486814180C14orf39,SIX6c.540A>T (p.Arg180=)
c.-144+5457T>A (n.-144+5457T>A)
14g.60509939C>ACA390087553C14orf39,SIX6c.541C>A (p.Gln181Lys)
c.-144+5456G>T (n.-144+5456G>T)
14g.60509939C>GCA390087554C14orf39,SIX6c.541C>G (p.Gln181Glu)
c.-144+5456G>C (n.-144+5456G>C)
14g.60509939C>TCA390087555C14orf39,SIX6c.541C>T (p.Gln181Ter)
c.-144+5456G>A (n.-144+5456G>A)
14g.60509940A>CCA390087556C14orf39,SIX6c.542A>C (p.Gln181Pro)
c.-144+5455T>G (n.-144+5455T>G)
14g.60509940A>GCA390087557C14orf39,SIX6c.542A>G (p.Gln181Arg)
c.-144+5455T>C (n.-144+5455T>C)
14g.60509940A>TCA390087558C14orf39,SIX6c.542A>T (p.Gln181Leu)
c.-144+5455T>A (n.-144+5455T>A)
14g.60509941A=CA2140829180C14orf39,SIX6c.543A= (p.Gln181=)
c.-144+5454T= (n.-144+5454T=)
14g.60509941A>CCA390087560C14orf39,SIX6c.543A>C (p.Gln181His)
c.-144+5454T>G (n.-144+5454T>G)
14g.60509941A>GCA486814181C14orf39,SIX6c.543A>G (p.Gln181=)
c.-144+5454T>C (n.-144+5454T>C)
 dbSNP
14g.60509941A>TCA390087559C14orf39,SIX6c.543A>T (p.Gln181His)
c.-144+5454T>A (n.-144+5454T>A)
14g.60509942A>CCA486814182C14orf39,SIX6c.544A>C (p.Arg182=)
c.-144+5453T>G (n.-144+5453T>G)
14g.60509942A>GCA390087561C14orf39,SIX6c.544A>G (p.Arg182Gly)
c.-144+5453T>C (n.-144+5453T>C)
14g.60509942A>TCA390087562C14orf39,SIX6c.544A>T (p.Arg182Trp)
c.-144+5453T>A (n.-144+5453T>A)
 gnomAD v4
14g.60509943G>ACA390087563C14orf39,SIX6c.545G>A (p.Arg182Lys)
c.-144+5452C>T (n.-144+5452C>T)
14g.60509943G>CCA390087564C14orf39,SIX6c.545G>C (p.Arg182Thr)
c.-144+5452C>G (n.-144+5452C>G)
14g.60509943G>TCA390087565C14orf39,SIX6c.545G>T (p.Arg182Met)
c.-144+5452C>A (n.-144+5452C>A)
 gnomAD v4
14g.60509944G>ACA486814183C14orf39,SIX6c.546G>A (p.Arg182=)
c.-144+5451C>T (n.-144+5451C>T)
 gnomAD v4
14g.60509944G>CCA390087566C14orf39,SIX6c.546G>C (p.Arg182Ser)
c.-144+5451C>G (n.-144+5451C>G)
14g.60509944G>TCA390087567C14orf39,SIX6c.546G>T (p.Arg182Ser)
c.-144+5451C>A (n.-144+5451C>A)
14g.60509945G>ACA390087568C14orf39,SIX6c.547G>A (p.Asp183Asn)
c.-144+5450C>T (n.-144+5450C>T)
14g.60509945G>CCA390087569C14orf39,SIX6c.547G>C (p.Asp183His)
c.-144+5450C>G (n.-144+5450C>G)
 ClinVar dbSNP
14g.60509945G=CA2140829186C14orf39,SIX6c.547G= (p.Asp183=)
c.-144+5450C= (n.-144+5450C=)
14g.60509945G>TCA390087570C14orf39,SIX6c.547G>T (p.Asp183Tyr)
c.-144+5450C>A (n.-144+5450C>A)
14g.60509946A>CCA390087571C14orf39,SIX6c.548A>C (p.Asp183Ala)
c.-144+5449T>G (n.-144+5449T>G)
14g.60509946A>GCA390087572C14orf39,SIX6c.548A>G (p.Asp183Gly)
c.-144+5449T>C (n.-144+5449T>C)
14g.60509946A>TCA390087573C14orf39,SIX6c.548A>T (p.Asp183Val)
c.-144+5449T>A (n.-144+5449T>A)
14g.60509947C>ACA390087574C14orf39,SIX6c.549C>A (p.Asp183Glu)
c.-144+5448G>T (n.-144+5448G>T)
 gnomAD v4
14g.60509947C=CA2140829194C14orf39,SIX6c.549C= (p.Asp183=)
c.-144+5448G= (n.-144+5448G=)
14g.60509947C>GCA7212606C14orf39,SIX6c.549C>G (p.Asp183Glu)
c.-144+5448G>C (n.-144+5448G>C)
 ClinVar dbSNP ExAC
14g.60509947C>TCA486814184C14orf39,SIX6c.549C>T (p.Asp183=)
c.-144+5448G>A (n.-144+5448G>A)
14g.60509948C>ACA486814185C14orf39,SIX6c.550C>A (p.Arg184=)
c.-144+5447G>T (n.-144+5447G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.60509948C=CA2140829203C14orf39,SIX6c.550C= (p.Arg184=)
c.-144+5447G= (n.-144+5447G=)
14g.60509948C>GCA7212607C14orf39,SIX6c.550C>G (p.Arg184Gly)
c.-144+5447G>C (n.-144+5447G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509948C>TCA390087575C14orf39,SIX6c.550C>T (p.Arg184Ter)
c.-144+5447G>A (n.-144+5447G>A)
 gnomAD v4 COSMIC
14g.60509949G>ACA7212608C14orf39,SIX6c.551G>A (p.Arg184Gln)
c.-144+5446C>T (n.-144+5446C>T)
 dbSNP ExAC gnomAD v4
14g.60509949G>CCA390087576C14orf39,SIX6c.551G>C (p.Arg184Pro)
c.-144+5446C>G (n.-144+5446C>G)
 dbSNP gnomAD v4
14g.60509949G=CA2140829214C14orf39,SIX6c.551G= (p.Arg184=)
c.-144+5446C= (n.-144+5446C=)
14g.60509949G>TCA390087577C14orf39,SIX6c.551G>T (p.Arg184Leu)
c.-144+5446C>A (n.-144+5446C>A)
 gnomAD v4
14g.60509950A>CCA486814186C14orf39,SIX6c.552A>C (p.Arg184=)
c.-144+5445T>G (n.-144+5445T>G)
14g.60509950A>GCA486814188C14orf39,SIX6c.552A>G (p.Arg184=)
c.-144+5445T>C (n.-144+5445T>C)
14g.60509950A>TCA486814187C14orf39,SIX6c.552A>T (p.Arg184=)
c.-144+5445T>A (n.-144+5445T>A)
14g.60509951G>ACA7212609C14orf39,SIX6c.553G>A (p.Ala185Thr)
c.-144+5444C>T (n.-144+5444C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509951G>CCA390087578C14orf39,SIX6c.553G>C (p.Ala185Pro)
c.-144+5444C>G (n.-144+5444C>G)
14g.60509951G=CA2140829221C14orf39,SIX6c.553G= (p.Ala185=)
c.-144+5444C= (n.-144+5444C=)
14g.60509951G>TCA390087579C14orf39,SIX6c.553G>T (p.Ala185Ser)
c.-144+5444C>A (n.-144+5444C>A)
14g.60509952C>ACA390087582C14orf39,SIX6c.554C>A (p.Ala185Glu)
c.-144+5443G>T (n.-144+5443G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.60509952C=CA2140829241C14orf39,SIX6c.554C= (p.Ala185=)
c.-144+5443G= (n.-144+5443G=)
14g.60509952C>GCA390087581C14orf39,SIX6c.554C>G (p.Ala185Gly)
c.-144+5443G>C (n.-144+5443G>C)
14g.60509952C>TCA390087580C14orf39,SIX6c.554C>T (p.Ala185Val)
c.-144+5443G>A (n.-144+5443G>A)
 dbSNP gnomAD v4
14g.60509953G>ACA486814189C14orf39,SIX6c.555G>A (p.Ala185=)
c.-144+5442C>T (n.-144+5442C>T)
14g.60509953G>CCA486814190C14orf39,SIX6c.555G>C (p.Ala185=)
c.-144+5442C>G (n.-144+5442C>G)
14g.60509953G>TCA486814191C14orf39,SIX6c.555G>T (p.Ala185=)
c.-144+5442C>A (n.-144+5442C>A)
14g.60509954G>ACA390087583C14orf39,SIX6c.556G>A (p.Ala186Thr)
c.-144+5441C>T (n.-144+5441C>T)
 gnomAD v4
14g.60509954G>CCA390087584C14orf39,SIX6c.556G>C (p.Ala186Pro)
c.-144+5441C>G (n.-144+5441C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.60509954G=CA2140829244C14orf39,SIX6c.556G= (p.Ala186=)
c.-144+5441C= (n.-144+5441C=)
14g.60509954G>TCA390087585C14orf39,SIX6c.556G>T (p.Ala186Ser)
c.-144+5441C>A (n.-144+5441C>A)
14g.60509955C>ACA390087586C14orf39,SIX6c.557C>A (p.Ala186Asp)
c.-144+5440G>T (n.-144+5440G>T)
14g.60509955C=CA2140829247C14orf39,SIX6c.557C= (p.Ala186=)
c.-144+5440G= (n.-144+5440G=)
14g.60509955C>GCA390087587C14orf39,SIX6c.557C>G (p.Ala186Gly)
c.-144+5440G>C (n.-144+5440G>C)
14g.60509955C>TCA390087588C14orf39,SIX6c.557C>T (p.Ala186Val)
c.-144+5440G>A (n.-144+5440G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.60509956delCA2510869917C14orf39,SIX6c.558del (p.Ala187GlnfsTer?)
c.-144+5439del (n.-144+5439del)
14g.60509956T>ACA486814192C14orf39,SIX6c.558T>A (p.Ala186=)
c.-144+5439A>T (n.-144+5439A>T)
14g.60509956T>CCA486814193C14orf39,SIX6c.558T>C (p.Ala186=)
c.-144+5439A>G (n.-144+5439A>G)
 gnomAD v4
14g.60509956T>GCA486814194C14orf39,SIX6c.558T>G (p.Ala186=)
c.-144+5439A>C (n.-144+5439A>C)
14g.60509957G>ACA390087589C14orf39,SIX6c.559G>A (p.Ala187Thr)
c.-144+5438C>T (n.-144+5438C>T)
 gnomAD v4
14g.60509957G>CCA390087591C14orf39,SIX6c.559G>C (p.Ala187Pro)
c.-144+5438C>G (n.-144+5438C>G)
14g.60509957G>TCA390087590C14orf39,SIX6c.559G>T (p.Ala187Ser)
c.-144+5438C>A (n.-144+5438C>A)
 gnomAD v4
14g.60509958C>ACA390087592C14orf39,SIX6c.560C>A (p.Ala187Glu)
c.-144+5437G>T (n.-144+5437G>T)
 gnomAD v4
14g.60509958C>GCA390087593C14orf39,SIX6c.560C>G (p.Ala187Gly)
c.-144+5437G>C (n.-144+5437G>C)
14g.60509958C>TCA390087594C14orf39,SIX6c.560C>T (p.Ala187Val)
c.-144+5437G>A (n.-144+5437G>A)
14g.60509959A=CA2140829254C14orf39,SIX6c.561A= (p.Ala187=)
c.-144+5436T= (n.-144+5436T=)
14g.60509959A>CCA486814196C14orf39,SIX6c.561A>C (p.Ala187=)
c.-144+5436T>G (n.-144+5436T>G)
14g.60509959A>GCA7212610C14orf39,SIX6c.561A>G (p.Ala187=)
c.-144+5436T>C (n.-144+5436T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509959A>TCA486814195C14orf39,SIX6c.561A>T (p.Ala187=)
c.-144+5436T>A (n.-144+5436T>A)
 COSMIC
14g.60509960G>ACA390087595C14orf39,SIX6c.562G>A (p.Ala188Thr)
c.-144+5435C>T (n.-144+5435C>T)
 dbSNP gnomAD v4
14g.60509960G>CCA390087596C14orf39,SIX6c.562G>C (p.Ala188Pro)
c.-144+5435C>G (n.-144+5435C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509960G=CA2140829258C14orf39,SIX6c.562G= (p.Ala188=)
c.-144+5435C= (n.-144+5435C=)
14g.60509960G>TCA390087597C14orf39,SIX6c.562G>T (p.Ala188Ser)
c.-144+5435C>A (n.-144+5435C>A)
14g.60509961C>ACA390087598C14orf39,SIX6c.563C>A (p.Ala188Asp)
c.-144+5434G>T (n.-144+5434G>T)
 gnomAD v4
14g.60509961C>GCA390087599C14orf39,SIX6c.563C>G (p.Ala188Gly)
c.-144+5434G>C (n.-144+5434G>C)
 gnomAD v4
14g.60509961C>TCA390087600C14orf39,SIX6c.563C>T (p.Ala188Val)
c.-144+5434G>A (n.-144+5434G>A)
 gnomAD v4
14g.60509962C>ACA486814197C14orf39,SIX6c.564C>A (p.Ala188=)
c.-144+5433G>T (n.-144+5433G>T)
14g.60509962C>GCA486814198C14orf39,SIX6c.564C>G (p.Ala188=)
c.-144+5433G>C (n.-144+5433G>C)
14g.60509962C>TCA486814199C14orf39,SIX6c.564C>T (p.Ala188=)
c.-144+5433G>A (n.-144+5433G>A)
 gnomAD v4
14g.60509963A=CA2140829263C14orf39,SIX6c.565A= (p.Lys189=)
c.-144+5432T= (n.-144+5432T=)
14g.60509963A>CCA390087601C14orf39,SIX6c.565A>C (p.Lys189Gln)
c.-144+5432T>G (n.-144+5432T>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509963A>GCA390087602C14orf39,SIX6c.565A>G (p.Lys189Glu)
c.-144+5432T>C (n.-144+5432T>C)
14g.60509963A>TCA390087603C14orf39,SIX6c.565A>T (p.Lys189Ter)
c.-144+5432T>A (n.-144+5432T>A)
 gnomAD v4
14g.60509964delCA2801792061C14orf39,SIX6c.566del (p.Lys189ArgfsTer?)
c.-144+5432del (n.-144+5432del)
14g.60509964A>CCA390087606C14orf39,SIX6c.566A>C (p.Lys189Thr)
c.-144+5431T>G (n.-144+5431T>G)
14g.60509964A>GCA390087604C14orf39,SIX6c.566A>G (p.Lys189Arg)
c.-144+5431T>C (n.-144+5431T>C)
14g.60509964A>TCA390087605C14orf39,SIX6c.566A>T (p.Lys189Met)
c.-144+5431T>A (n.-144+5431T>A)
14g.60509965G>ACA486814200C14orf39,SIX6c.567G>A (p.Lys189=)
c.-144+5430C>T (n.-144+5430C>T)
 gnomAD v4 COSMIC
14g.60509965G>CCA390087607C14orf39,SIX6c.567G>C (p.Lys189Asn)
c.-144+5430C>G (n.-144+5430C>G)
14g.60509965G>TCA390087608C14orf39,SIX6c.567G>T (p.Lys189Asn)
c.-144+5430C>A (n.-144+5430C>A)
 gnomAD v4
14g.60509966A>CCA390087609C14orf39,SIX6c.568A>C (p.Asn190His)
c.-144+5429T>G (n.-144+5429T>G)
14g.60509966A>GCA390087610C14orf39,SIX6c.568A>G (p.Asn190Asp)
c.-144+5429T>C (n.-144+5429T>C)
14g.60509966A>TCA390087611C14orf39,SIX6c.568A>T (p.Asn190Tyr)
c.-144+5429T>A (n.-144+5429T>A)
14g.60509967A>CCA390087612C14orf39,SIX6c.569A>C (p.Asn190Thr)
c.-144+5428T>G (n.-144+5428T>G)
 COSMIC
14g.60509967A>GCA390087613C14orf39,SIX6c.569A>G (p.Asn190Ser)
c.-144+5428T>C (n.-144+5428T>C)
14g.60509967A>TCA390087614C14orf39,SIX6c.569A>T (p.Asn190Ile)
c.-144+5428T>A (n.-144+5428T>A)
14g.60509968C>ACA390087615C14orf39,SIX6c.570C>A (p.Asn190Lys)
c.-144+5427G>T (n.-144+5427G>T)
14g.60509968C=CA2140829274C14orf39,SIX6c.570C= (p.Asn190=)
c.-144+5427G= (n.-144+5427G=)
14g.60509968C>GCA390087616C14orf39,SIX6c.570C>G (p.Asn190Lys)
c.-144+5427G>C (n.-144+5427G>C)
14g.60509968C>TCA262195820C14orf39,SIX6c.570C>T (p.Asn190=)
c.-144+5427G>A (n.-144+5427G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60509969A=CA2140829277C14orf39,SIX6c.571A= (p.Arg191=)
c.-144+5426T= (n.-144+5426T=)
14g.60509969A>CCA486814201C14orf39,SIX6c.571A>C (p.Arg191=)
c.-144+5426T>G (n.-144+5426T>G)
14g.60509969A>GCA390087617C14orf39,SIX6c.571A>G (p.Arg191Gly)
c.-144+5426T>C (n.-144+5426T>C)
14g.60509969A>TCA390087618C14orf39,SIX6c.571A>T (p.Arg191Ter)
c.-144+5426T>A (n.-144+5426T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60509970G>ACA390087619C14orf39,SIX6c.572G>A (p.Arg191Lys)
c.-144+5425C>T (n.-144+5425C>T)
14g.60509970G>CCA390087621C14orf39,SIX6c.572G>C (p.Arg191Thr)
c.-144+5425C>G (n.-144+5425C>G)
14g.60509970G>TCA390087620C14orf39,SIX6c.572G>T (p.Arg191Ile)
c.-144+5425C>A (n.-144+5425C>A)
 gnomAD v4 COSMIC
14g.60509971G>ACA390087622C14orf39,SIX6c.572+1G>A (n.572+1G>A)
c.-144+5424C>T (n.-144+5424C>T)
 gnomAD v4
14g.60509971G>CCA390087624C14orf39,SIX6c.572+1G>C (n.572+1G>C)
c.-144+5424C>G (n.-144+5424C>G)
14g.60509971G>TCA390087623C14orf39,SIX6c.572+1G>T (n.572+1G>T)
c.-144+5424C>A (n.-144+5424C>A)
14g.60509972T>ACA390087625C14orf39,SIX6c.572+2T>A (n.572+2T>A)
c.-144+5423A>T (n.-144+5423A>T)
14g.60509972T>CCA390087626C14orf39,SIX6c.572+2T>C (n.572+2T>C)
c.-144+5423A>G (n.-144+5423A>G)
 gnomAD v4
14g.60509972T>GCA390087627C14orf39,SIX6c.572+2T>G (n.572+2T>G)
c.-144+5423A>C (n.-144+5423A>C)
14g.60509973C>ACA614591219C14orf39,SIX6c.572+3C>A (n.572+3C>A)
c.-144+5422G>T (n.-144+5422G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60509973C=CA2140829279C14orf39,SIX6c.572+3C= (n.572+3C=)
c.-144+5422G= (n.-144+5422G=)
14g.60509973C>GCA2140829281C14orf39,SIX6c.572+3C>G (n.572+3C>G)
c.-144+5422G>C (n.-144+5422G>C)
 dbSNP gnomAD v4
14g.60509973C>TCA2625125110C14orf39,SIX6c.572+3C>T (n.572+3C>T)
c.-144+5422G>A (n.-144+5422G>A)
 gnomAD v4
14g.60509974G>ACA963736148C14orf39,SIX6c.572+4G>A (n.572+4G>A)
c.-144+5421C>T (n.-144+5421C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.60509974G>CCA614591220C14orf39,SIX6c.572+4G>C (n.572+4G>C)
c.-144+5421C>G (n.-144+5421C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509974G=CA2140829288C14orf39,SIX6c.572+4G= (n.572+4G=)
c.-144+5421C= (n.-144+5421C=)
14g.60509974G>TCA963736149C14orf39,SIX6c.572+4G>T (n.572+4G>T)
c.-144+5421C>A (n.-144+5421C>A)
 dbSNP gnomAD v3 gnomAD v4
14g.60509975G>ACA614591221C14orf39,SIX6c.572+5G>A (n.572+5G>A)
c.-144+5420C>T (n.-144+5420C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.60509975G=CA2140829291C14orf39,SIX6c.572+5G= (n.572+5G=)
c.-144+5420C= (n.-144+5420C=)
14g.60509976T>GCA2140829297C14orf39,SIX6c.572+6T>G (n.572+6T>G)
c.-144+5419A>C (n.-144+5419A>C)
 dbSNP
14g.60509976T=CA2140829294C14orf39,SIX6c.572+6T= (n.572+6T=)
c.-144+5419A= (n.-144+5419A=)
14g.60509977A>TCA2625125111C14orf39,SIX6c.572+7A>T (n.572+7A>T)
c.-144+5418T>A (n.-144+5418T>A)
 gnomAD v4
14g.60509978C>ACA2729561699C14orf39,SIX6c.572+8C>A (n.572+8C>A)
c.-144+5417G>T (n.-144+5417G>T)
 dbSNP
14g.60509978C=CA2140829301C14orf39,SIX6c.572+8C= (n.572+8C=)
c.-144+5417G= (n.-144+5417G=)
14g.60509978C>TCA614591222C14orf39,SIX6c.572+8C>T (n.572+8C>T)
c.-144+5417G>A (n.-144+5417G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.60509981_60509988delCA2575582720C14orf39,SIX6c.572+11_572+18del (n.572+11_572+18del)
c.-144+5410_-144+5417del (n.-144+5410_-144+5417del)
14g.60509979C>ACA2625125112C14orf39,SIX6c.572+9C>A (n.572+9C>A)
c.-144+5416G>T (n.-144+5416G>T)
 gnomAD v4
14g.60509980T>CCA614591223C14orf39,SIX6c.572+10T>C (n.572+10T>C)
c.-144+5415A>G (n.-144+5415A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.60509980T=CA2140829312C14orf39,SIX6c.572+10T= (n.572+10T=)
c.-144+5415A= (n.-144+5415A=)
14g.60509981A>GCA2625125113C14orf39,SIX6c.572+11A>G (n.572+11A>G)
c.-144+5414T>C (n.-144+5414T>C)
 gnomAD v4
14g.60509981A>TCA2625125114C14orf39,SIX6c.572+11A>T (n.572+11A>T)
c.-144+5414T>A (n.-144+5414T>A)
 gnomAD v4
14g.60509982G>ACA2625125115C14orf39,SIX6c.572+12G>A (n.572+12G>A)
c.-144+5413C>T (n.-144+5413C>T)
 gnomAD v4
14g.60509982G>CCA2140829320C14orf39,SIX6c.572+12G>C (n.572+12G>C)
c.-144+5413C>G (n.-144+5413C>G)
 dbSNP gnomAD v4
14g.60509982G=CA2140829319C14orf39,SIX6c.572+12G= (n.572+12G=)
c.-144+5413C= (n.-144+5413C=)
14g.60509982G>TCA2625125116C14orf39,SIX6c.572+12G>T (n.572+12G>T)
c.-144+5413C>A (n.-144+5413C>A)
 gnomAD v4
14g.60509983A=CA2140829323C14orf39,SIX6c.572+13A= (n.572+13A=)
c.-144+5412T= (n.-144+5412T=)
14g.60509983A>GCA7212611C14orf39,SIX6c.572+13A>G (n.572+13A>G)
c.-144+5412T>C (n.-144+5412T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60509985delCA2625125117C14orf39,SIX6c.572+15del (n.572+15del)
c.-144+5411del (n.-144+5411del)
 gnomAD v4
14g.60509985G>ACA7212612C14orf39,SIX6c.572+15G>A (n.572+15G>A)
c.-144+5410C>T (n.-144+5410C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.60509985G=CA2140829333C14orf39,SIX6c.572+15G= (n.572+15G=)
c.-144+5410C= (n.-144+5410C=)
14g.60509985G>TCA2140829338C14orf39,SIX6c.572+15G>T (n.572+15G>T)
c.-144+5410C>A (n.-144+5410C>A)
 dbSNP
14g.60509986C>GCA2625125118C14orf39,SIX6c.572+16C>G (n.572+16C>G)
c.-144+5409G>C (n.-144+5409G>C)
 gnomAD v4
14g.60509987C>ACA2625125119C14orf39,SIX6c.572+17C>A (n.572+17C>A)
c.-144+5408G>T (n.-144+5408G>T)
 gnomAD v4
14g.60509988T>CCA614591224C14orf39,SIX6c.572+18T>C (n.572+18T>C)
c.-144+5407A>G (n.-144+5407A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509988T=CA2140829344C14orf39,SIX6c.572+18T= (n.572+18T=)
c.-144+5407A= (n.-144+5407A=)
14g.60509989C>ACA2625125120C14orf39,SIX6c.572+19C>A (n.572+19C>A)
c.-144+5406G>T (n.-144+5406G>T)
 gnomAD v4
14g.60509990C>ACA2575582721C14orf39,SIX6c.572+20C>A (n.572+20C>A)
c.-144+5405G>T (n.-144+5405G>T)
 gnomAD v4
14g.60509990C=CA2140829348C14orf39,SIX6c.572+20C= (n.572+20C=)
c.-144+5405G= (n.-144+5405G=)
14g.60509990C>GCA7212613C14orf39,SIX6c.572+20C>G (n.572+20C>G)
c.-144+5405G>C (n.-144+5405G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509990C>TCA2140829351C14orf39,SIX6c.572+20C>T (n.572+20C>T)
c.-144+5405G>A (n.-144+5405G>A)
 dbSNP gnomAD v4
14g.60509991G>ACA2575582722C14orf39,SIX6c.572+21G>A (n.572+21G>A)
c.-144+5404C>T (n.-144+5404C>T)
 dbSNP gnomAD v4
14g.60509991G>CCA2625125121C14orf39,SIX6c.572+21G>C (n.572+21G>C)
c.-144+5404C>G (n.-144+5404C>G)
 gnomAD v4
14g.60509991G>TCA2625125122C14orf39,SIX6c.572+21G>T (n.572+21G>T)
c.-144+5404C>A (n.-144+5404C>A)
 gnomAD v4
14g.60509992C>ACA2625125123C14orf39,SIX6c.572+22C>A (n.572+22C>A)
c.-144+5403G>T (n.-144+5403G>T)
 gnomAD v4
14g.60509992C=CA2140829355C14orf39,SIX6c.572+22C= (n.572+22C=)
c.-144+5403G= (n.-144+5403G=)
14g.60509992C>TCA7212614C14orf39,SIX6c.572+22C>T (n.572+22C>T)
c.-144+5403G>A (n.-144+5403G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509993G>ACA262195821C14orf39,SIX6c.572+23G>A (n.572+23G>A)
c.-144+5402C>T (n.-144+5402C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.60509993G>CCA2625125124C14orf39,SIX6c.572+23G>C (n.572+23G>C)
c.-144+5402C>G (n.-144+5402C>G)
 gnomAD v4
14g.60509993G=CA2140829359C14orf39,SIX6c.572+23G= (n.572+23G=)
c.-144+5402C= (n.-144+5402C=)
14g.60509994C>ACA2625125125C14orf39,SIX6c.572+24C>A (n.572+24C>A)
c.-144+5401G>T (n.-144+5401G>T)
 gnomAD v4
14g.60509995T>CCA614591225C14orf39,SIX6c.572+25T>C (n.572+25T>C)
c.-144+5400A>G (n.-144+5400A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.60509995T>GCA2625125126C14orf39,SIX6c.572+25T>G (n.572+25T>G)
c.-144+5400A>C (n.-144+5400A>C)
 gnomAD v4
14g.60509995T=CA2140829366C14orf39,SIX6c.572+25T= (n.572+25T=)
c.-144+5400A= (n.-144+5400A=)
14g.60509998G>CCA7212615C14orf39,SIX6c.572+28G>C (n.572+28G>C)
c.-144+5397C>G (n.-144+5397C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60509998G=CA2140829368C14orf39,SIX6c.572+28G= (n.572+28G=)
c.-144+5397C= (n.-144+5397C=)
14g.60509999A=CA2140829371C14orf39,SIX6c.572+29A= (n.572+29A=)
c.-144+5396T= (n.-144+5396T=)
14g.60509999A>CCA2140829373C14orf39,SIX6c.572+29A>C (n.572+29A>C)
c.-144+5396T>G (n.-144+5396T>G)
 dbSNP
14g.60509999A>GCA7212616C14orf39,SIX6c.572+29A>G (n.572+29A>G)
c.-144+5396T>C (n.-144+5396T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.60510000G>CCA2140829378C14orf39,SIX6c.572+30G>C (n.572+30G>C)
c.-144+5395C>G (n.-144+5395C>G)
 dbSNP
14g.60510000G=CA2140829377C14orf39,SIX6c.572+30G= (n.572+30G=)
c.-144+5395C= (n.-144+5395C=)
14g.60510001C>ACA2625125127C14orf39,SIX6c.572+31C>A (n.572+31C>A)
c.-144+5394G>T (n.-144+5394G>T)
 gnomAD v4
14g.60510001C>TCA2575582723C14orf39,SIX6c.572+31C>T (n.572+31C>T)
c.-144+5394G>A (n.-144+5394G>A)
 gnomAD v4
14g.60510002G>ACA707373890C14orf39,SIX6c.572+32G>A (n.572+32G>A)
c.-144+5393C>T (n.-144+5393C>T)
 dbSNP gnomAD v4
14g.60510002G=CA2140829381C14orf39,SIX6c.572+32G= (n.572+32G=)
c.-144+5393C= (n.-144+5393C=)
14g.60510003C=CA2140829384C14orf39,SIX6c.572+33C= (n.572+33C=)
c.-144+5392G= (n.-144+5392G=)
14g.60510003C>TCA614591226C14orf39,SIX6c.572+33C>T (n.572+33C>T)
c.-144+5392G>A (n.-144+5392G>A)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched