Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.104124100A=CA1933463565SFR1c.522A= (p.Lys174=)
c.483A= (p.Lys161=)
c.708A= (p.Lys236=)
10g.104124100A>CCA378076087SFR1c.522A>C (p.Lys174Asn)
c.483A>C (p.Lys161Asn)
c.708A>C (p.Lys236Asn)
10g.104124100A>GCA471503410SFR1c.522A>G (p.Lys174=)
c.483A>G (p.Lys161=)
c.708A>G (p.Lys236=)
 dbSNP
10g.104124100A>TCA378076088SFR1c.522A>T (p.Lys174Asn)
c.483A>T (p.Lys161Asn)
c.708A>T (p.Lys236Asn)
10g.104124101C>ACA378076091SFR1c.523C>A (p.Leu175Ile)
c.484C>A (p.Leu162Ile)
c.709C>A (p.Leu237Ile)
10g.104124101C=CA1933463567SFR1c.523C= (p.Leu175=)
c.484C= (p.Leu162=)
c.709C= (p.Leu237=)
10g.104124101C>GCA212432988SFR1c.523C>G (p.Leu175Val)
c.484C>G (p.Leu162Val)
c.709C>G (p.Leu237Val)
 dbSNP gnomAD v4
10g.104124101C>TCA471503411SFR1c.523C>T (p.Leu175=)
c.484C>T (p.Leu162=)
c.709C>T (p.Leu237=)
10g.104124102T>ACA378076098SFR1c.524T>A (p.Leu175Gln)
c.485T>A (p.Leu162Gln)
c.710T>A (p.Leu237Gln)
10g.104124102T>CCA378076096SFR1c.524T>C (p.Leu175Pro)
c.485T>C (p.Leu162Pro)
c.710T>C (p.Leu237Pro)
10g.104124102T>GCA378076094SFR1c.524T>G (p.Leu175Arg)
c.485T>G (p.Leu162Arg)
c.710T>G (p.Leu237Arg)
10g.104124103A=CA1933463569SFR1c.525A= (p.Leu175=)
c.486A= (p.Leu162=)
c.711A= (p.Leu237=)
10g.104124103A>CCA5679795SFR1c.525A>C (p.Leu175=)
c.486A>C (p.Leu162=)
c.711A>C (p.Leu237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104124103A>GCA471503413SFR1c.525A>G (p.Leu175=)
c.486A>G (p.Leu162=)
c.711A>G (p.Leu237=)
 gnomAD v4
10g.104124103A>TCA471503414SFR1c.525A>T (p.Leu175=)
c.486A>T (p.Leu162=)
c.711A>T (p.Leu237=)
10g.104124104G>ACA378076102SFR1c.526G>A (p.Val176Ile)
c.487G>A (p.Val163Ile)
c.712G>A (p.Val238Ile)
10g.104124104G>CCA378076104SFR1c.526G>C (p.Val176Leu)
c.487G>C (p.Val163Leu)
c.712G>C (p.Val238Leu)
10g.104124104G>TCA378076106SFR1c.526G>T (p.Val176Phe)
c.487G>T (p.Val163Phe)
c.712G>T (p.Val238Phe)
 gnomAD v4
10g.104124105T>ACA378076108SFR1c.527T>A (p.Val176Asp)
c.488T>A (p.Val163Asp)
c.713T>A (p.Val238Asp)
10g.104124105T>CCA378076110SFR1c.527T>C (p.Val176Ala)
c.488T>C (p.Val163Ala)
c.713T>C (p.Val238Ala)
10g.104124105T>GCA378076112SFR1c.527T>G (p.Val176Gly)
c.488T>G (p.Val163Gly)
c.713T>G (p.Val238Gly)
10g.104124106C>ACA471503416SFR1c.528C>A (p.Val176=)
c.489C>A (p.Val163=)
c.714C>A (p.Val238=)
 gnomAD v4
10g.104124106C=CA1933463571SFR1c.528C= (p.Val176=)
c.489C= (p.Val163=)
c.714C= (p.Val238=)
10g.104124106C>GCA5679796SFR1c.528C>G (p.Val176=)
c.489C>G (p.Val163=)
c.714C>G (p.Val238=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104124106C>TCA471503417SFR1c.528C>T (p.Val176=)
c.489C>T (p.Val163=)
c.714C>T (p.Val238=)
10g.104124107A>CCA378076116SFR1c.529A>C (p.Lys177Gln)
c.490A>C (p.Lys164Gln)
c.715A>C (p.Lys239Gln)
10g.104124107A>GCA378076118SFR1c.529A>G (p.Lys177Glu)
c.490A>G (p.Lys164Glu)
c.715A>G (p.Lys239Glu)
10g.104124107A>TCA378076119SFR1c.529A>T (p.Lys177Ter)
c.490A>T (p.Lys164Ter)
c.715A>T (p.Lys239Ter)
10g.104124110dupCA659212747SFR1c.532dup (p.Met178AsnfsTer3)
c.493dup (p.Met165AsnfsTer3)
c.718dup (p.Met240AsnfsTer3)
 dbSNP
10g.104124108A>CCA378076122SFR1c.530A>C (p.Lys177Thr)
c.491A>C (p.Lys164Thr)
c.716A>C (p.Lys239Thr)
10g.104124108A>GCA378076124SFR1c.530A>G (p.Lys177Arg)
c.491A>G (p.Lys164Arg)
c.716A>G (p.Lys239Arg)
10g.104124108A>TCA378076125SFR1c.530A>T (p.Lys177Ile)
c.491A>T (p.Lys164Ile)
c.716A>T (p.Lys239Ile)
10g.104124109A>CCA378076128SFR1c.531A>C (p.Lys177Asn)
c.492A>C (p.Lys164Asn)
c.717A>C (p.Lys239Asn)
10g.104124109A>GCA471503418SFR1c.531A>G (p.Lys177=)
c.492A>G (p.Lys164=)
c.717A>G (p.Lys239=)
10g.104124109A>TCA378076130SFR1c.531A>T (p.Lys177Asn)
c.492A>T (p.Lys164Asn)
c.717A>T (p.Lys239Asn)
10g.104124110A=CA1933463573SFR1c.532A= (p.Met178=)
c.493A= (p.Met165=)
c.718A= (p.Met240=)
10g.104124110A>CCA378076132SFR1c.532A>C (p.Met178Leu)
c.493A>C (p.Met165Leu)
c.718A>C (p.Met240Leu)
10g.104124110A>GCA378076134SFR1c.532A>G (p.Met178Val)
c.493A>G (p.Met165Val)
c.718A>G (p.Met240Val)
10g.104124110A>TCA5679797SFR1c.532A>T (p.Met178Leu)
c.493A>T (p.Met165Leu)
c.718A>T (p.Met240Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104124111T>ACA378076137SFR1c.533T>A (p.Met178Lys)
c.494T>A (p.Met165Lys)
c.719T>A (p.Met240Lys)
10g.104124111T>CCA378076139SFR1c.533T>C (p.Met178Thr)
c.494T>C (p.Met165Thr)
c.719T>C (p.Met240Thr)
10g.104124111T>GCA378076141SFR1c.533T>G (p.Met178Arg)
c.494T>G (p.Met165Arg)
c.719T>G (p.Met240Arg)
10g.104124112G>ACA5679798SFR1c.534G>A (p.Met178Ile)
c.495G>A (p.Met165Ile)
c.720G>A (p.Met240Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104124112G>CCA378076142SFR1c.534G>C (p.Met178Ile)
c.495G>C (p.Met165Ile)
c.720G>C (p.Met240Ile)
 dbSNP gnomAD v4
10g.104124112G=CA1933463575SFR1c.534G= (p.Met178=)
c.495G= (p.Met165=)
c.720G= (p.Met240=)
10g.104124112G>TCA378076143SFR1c.534G>T (p.Met178Ile)
c.495G>T (p.Met165Ile)
c.720G>T (p.Met240Ile)
 gnomAD v4
10g.104124113T>ACA378076144SFR1c.535T>A (p.Tyr179Asn)
c.496T>A (p.Tyr166Asn)
c.721T>A (p.Tyr241Asn)
10g.104124113T>CCA5679799SFR1c.535T>C (p.Tyr179His)
c.496T>C (p.Tyr166His)
c.721T>C (p.Tyr241His)
 dbSNP ExAC gnomAD v2
10g.104124113T>GCA378076145SFR1c.535T>G (p.Tyr179Asp)
c.496T>G (p.Tyr166Asp)
c.721T>G (p.Tyr241Asp)
10g.104124113T=CA1933463577SFR1c.535T= (p.Tyr179=)
c.496T= (p.Tyr166=)
c.721T= (p.Tyr241=)
10g.104124114A=CA1933463579SFR1c.536A= (p.Tyr179=)
c.497A= (p.Tyr166=)
c.722A= (p.Tyr241=)
10g.104124114A>CCA378076147SFR1c.536A>C (p.Tyr179Ser)
c.497A>C (p.Tyr166Ser)
c.722A>C (p.Tyr241Ser)
10g.104124114A>GCA378076146SFR1c.536A>G (p.Tyr179Cys)
c.497A>G (p.Tyr166Cys)
c.722A>G (p.Tyr241Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124114A>TCA5679800SFR1c.536A>T (p.Tyr179Phe)
c.497A>T (p.Tyr166Phe)
c.722A>T (p.Tyr241Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104124115T>ACA378076148SFR1c.537T>A (p.Tyr179Ter)
c.498T>A (p.Tyr166Ter)
c.723T>A (p.Tyr241Ter)
10g.104124115T>CCA5679801SFR1c.537T>C (p.Tyr179=)
c.498T>C (p.Tyr166=)
c.723T>C (p.Tyr241=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104124115T>GCA378076149SFR1c.537T>G (p.Tyr179Ter)
c.498T>G (p.Tyr166Ter)
c.723T>G (p.Tyr241Ter)
10g.104124115T=CA1933463581SFR1c.537T= (p.Tyr179=)
c.498T= (p.Tyr166=)
c.723T= (p.Tyr241=)
10g.104124116A>CCA471503422SFR1c.538A>C (p.Arg180=)
c.499A>C (p.Arg167=)
c.724A>C (p.Arg242=)
 gnomAD v4
10g.104124116A>GCA378076150SFR1c.538A>G (p.Arg180Gly)
c.499A>G (p.Arg167Gly)
c.724A>G (p.Arg242Gly)
10g.104124116A>TCA378076151SFR1c.538A>T (p.Arg180Ter)
c.499A>T (p.Arg167Ter)
c.724A>T (p.Arg242Ter)
10g.104124117G>ACA378076152SFR1c.539G>A (p.Arg180Lys)
c.500G>A (p.Arg167Lys)
c.725G>A (p.Arg242Lys)
 gnomAD v4
10g.104124117G>CCA378076153SFR1c.539G>C (p.Arg180Thr)
c.500G>C (p.Arg167Thr)
c.725G>C (p.Arg242Thr)
10g.104124117G>TCA378076154SFR1c.539G>T (p.Arg180Ile)
c.500G>T (p.Arg167Ile)
c.725G>T (p.Arg242Ile)
10g.104124118A>CCA378076155SFR1c.540A>C (p.Arg180Ser)
c.501A>C (p.Arg167Ser)
c.726A>C (p.Arg242Ser)
10g.104124118A>GCA471503424SFR1c.540A>G (p.Arg180=)
c.501A>G (p.Arg167=)
c.726A>G (p.Arg242=)
10g.104124118A>TCA378076156SFR1c.540A>T (p.Arg180Ser)
c.501A>T (p.Arg167Ser)
c.726A>T (p.Arg242Ser)
10g.104124119T>ACA378076157SFR1c.541T>A (p.Ser181Thr)
c.502T>A (p.Ser168Thr)
c.727T>A (p.Ser243Thr)
 gnomAD v4
10g.104124119T>CCA378076158SFR1c.541T>C (p.Ser181Pro)
c.502T>C (p.Ser168Pro)
c.727T>C (p.Ser243Pro)
 ClinVar
10g.104124119T>GCA378076159SFR1c.541T>G (p.Ser181Ala)
c.502T>G (p.Ser168Ala)
c.727T>G (p.Ser243Ala)
10g.104124120C>ACA378076160SFR1c.542C>A (p.Ser181Ter)
c.503C>A (p.Ser168Ter)
c.728C>A (p.Ser243Ter)
 gnomAD v4
10g.104124120C>GCA378076161SFR1c.542C>G (p.Ser181Ter)
c.503C>G (p.Ser168Ter)
c.728C>G (p.Ser243Ter)
10g.104124120C>TCA378076162SFR1c.542C>T (p.Ser181Leu)
c.503C>T (p.Ser168Leu)
c.728C>T (p.Ser243Leu)
10g.104124121A>CCA471503426SFR1c.543A>C (p.Ser181=)
c.504A>C (p.Ser168=)
c.729A>C (p.Ser243=)
10g.104124121A>GCA471503428SFR1c.543A>G (p.Ser181=)
c.504A>G (p.Ser168=)
c.729A>G (p.Ser243=)
10g.104124121A>TCA471503427SFR1c.543A>T (p.Ser181=)
c.504A>T (p.Ser168=)
c.729A>T (p.Ser243=)
10g.104124121_104124123delCA2549456455SFR1c.543_545del (p.Lys182del)
c.504_506del (p.Lys169del)
c.729_731del (p.Lys244del)
10g.104124122A>CCA378076163SFR1c.544A>C (p.Lys182Gln)
c.505A>C (p.Lys169Gln)
c.730A>C (p.Lys244Gln)
10g.104124122A>GCA378076165SFR1c.544A>G (p.Lys182Glu)
c.505A>G (p.Lys169Glu)
c.730A>G (p.Lys244Glu)
10g.104124122A>TCA378076164SFR1c.544A>T (p.Lys182Ter)
c.505A>T (p.Lys169Ter)
c.730A>T (p.Lys244Ter)
10g.104124123A>CCA378076166SFR1c.545A>C (p.Lys182Thr)
c.506A>C (p.Lys169Thr)
c.731A>C (p.Lys244Thr)
10g.104124123A>GCA378076167SFR1c.545A>G (p.Lys182Arg)
c.506A>G (p.Lys169Arg)
c.731A>G (p.Lys244Arg)
10g.104124123A>TCA378076168SFR1c.545A>T (p.Lys182Met)
c.506A>T (p.Lys169Met)
c.731A>T (p.Lys244Met)
 gnomAD v4
10g.104124123_104124124insTCCA2558371423SFR1c.545_546insTC (p.Lys182AsnfsTer11)
c.506_507insTC (p.Lys169AsnfsTer11)
c.731_732insTC (p.Lys244AsnfsTer11)
10g.104124124G>ACA471503429SFR1c.546G>A (p.Lys182=)
c.507G>A (p.Lys169=)
c.732G>A (p.Lys244=)
 gnomAD v4
10g.104124124G>CCA378076169SFR1c.546G>C (p.Lys182Asn)
c.507G>C (p.Lys169Asn)
c.732G>C (p.Lys244Asn)
10g.104124124G>TCA378076170SFR1c.546G>T (p.Lys182Asn)
c.507G>T (p.Lys169Asn)
c.732G>T (p.Lys244Asn)
10g.104124125delCA645568163SFR1c.546+1del
c.507+1del
c.732+1del
 COSMIC COSMIC
10g.104124125G>ACA378076171SFR1c.546+1G>A (n.546+1G>A)
c.507+1G>A (n.507+1G>A)
c.732+1G>A (n.732+1G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.104124125G>CCA378076172SFR1c.546+1G>C (n.546+1G>C)
c.507+1G>C (n.507+1G>C)
c.732+1G>C (n.732+1G>C)
10g.104124125G=CA1933463583SFR1c.546+1G= (n.546+1G=)
c.507+1G= (n.507+1G=)
c.732+1G= (n.732+1G=)
10g.104124125G>TCA378076173SFR1c.546+1G>T (n.546+1G>T)
c.507+1G>T (n.507+1G>T)
c.732+1G>T (n.732+1G>T)
10g.104124126T>ACA378076174SFR1c.546+2T>A (n.546+2T>A)
c.507+2T>A (n.507+2T>A)
c.732+2T>A (n.732+2T>A)
10g.104124126T>CCA378076175SFR1c.546+2T>C (n.546+2T>C)
c.507+2T>C (n.507+2T>C)
c.732+2T>C (n.732+2T>C)
10g.104124126T>GCA378076176SFR1c.546+2T>G (n.546+2T>G)
c.507+2T>G (n.507+2T>G)
c.732+2T>G (n.732+2T>G)
10g.104124128delCA2569896023SFR1c.546+4del (n.546+4del)
c.507+4del (n.507+4del)
c.732+4del (n.732+4del)
10g.104124128A>GCA2610806154SFR1c.546+4A>G (n.546+4A>G)
c.507+4A>G (n.507+4A>G)
c.732+4A>G (n.732+4A>G)
 gnomAD v4
10g.104124130_104124136delCA2514330517SFR1c.546+6_546+12del (n.546+6_546+12del)
c.507+6_507+12del (n.507+6_507+12del)
c.732+6_732+12del (n.732+6_732+12del)
10g.104124132G>ACA2610806155SFR1c.546+8G>A (n.546+8G>A)
c.507+8G>A (n.507+8G>A)
c.732+8G>A (n.732+8G>A)
 gnomAD v4
10g.104124134delCA2610806156SFR1c.546+10del (n.546+10del)
c.507+10del (n.507+10del)
c.732+10del (n.732+10del)
 gnomAD v4
10g.104124138C=CA1933463584SFR1c.546+14C= (n.546+14C=)
c.507+14C= (n.507+14C=)
c.732+14C= (n.732+14C=)
10g.104124138C>GCA659212811SFR1c.546+14C>G (n.546+14C>G)
c.507+14C>G (n.507+14C>G)
c.732+14C>G (n.732+14C>G)
 dbSNP
10g.104124139A>GCA2610806157SFR1c.546+15A>G (n.546+15A>G)
c.507+15A>G (n.507+15A>G)
c.732+15A>G (n.732+15A>G)
 gnomAD v4
10g.104124139_104124140delCA2555642021SFR1c.546+15_546+16del (n.546+15_546+16del)
c.507+15_507+16del (n.507+15_507+16del)
c.732+15_732+16del (n.732+15_732+16del)
10g.104124140G>ACA2610806158SFR1c.546+16G>A (n.546+16G>A)
c.507+16G>A (n.507+16G>A)
c.732+16G>A (n.732+16G>A)
 gnomAD v4
10g.104124140G>CCA5679802SFR1c.546+16G>C (n.546+16G>C)
c.507+16G>C (n.507+16G>C)
c.732+16G>C (n.732+16G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.104124140G=CA1933463586SFR1c.546+16G= (n.546+16G=)
c.507+16G= (n.507+16G=)
c.732+16G= (n.732+16G=)
10g.104124140G>TCA659212812SFR1c.546+16G>T (n.546+16G>T)
c.507+16G>T (n.507+16G>T)
c.732+16G>T (n.732+16G>T)
 dbSNP gnomAD v4
10g.104124141_104124142insCCGTCA2524050402SFR1c.546+17_546+18insCCGT (n.546+17_546+18insCCGT)
c.507+17_507+18insCCGT (n.507+17_507+18insCCGT)
c.732+17_732+18insCCGT (n.732+17_732+18insCCGT)
10g.104124142A=CA1933463588SFR1c.546+18A= (n.546+18A=)
c.507+18A= (n.507+18A=)
c.732+18A= (n.732+18A=)
10g.104124142A>GCA212433054SFR1c.546+18A>G (n.546+18A>G)
c.507+18A>G (n.507+18A>G)
c.732+18A>G (n.732+18A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.104124143C>ACA2610806159SFR1c.546+19C>A (n.546+19C>A)
c.507+19C>A (n.507+19C>A)
c.732+19C>A (n.732+19C>A)
 gnomAD v4
10g.104124143C>TCA2543068427SFR1c.546+19C>T (n.546+19C>T)
c.507+19C>T (n.507+19C>T)
c.732+19C>T (n.732+19C>T)
10g.104124144C>ACA2610806160SFR1c.546+20C>A (n.546+20C>A)
c.507+20C>A (n.507+20C>A)
c.732+20C>A (n.732+20C>A)
 gnomAD v4
10g.104124144C=CA1933463590SFR1c.546+20C= (n.546+20C=)
c.507+20C= (n.507+20C=)
c.732+20C= (n.732+20C=)
10g.104124144C>TCA596111379SFR1c.546+20C>T (n.546+20C>T)
c.507+20C>T (n.507+20C>T)
c.732+20C>T (n.732+20C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124145A=CA1933463591SFR1c.546+21A= (n.546+21A=)
c.507+21A= (n.507+21A=)
c.732+21A= (n.732+21A=)
10g.104124145A>GCA659212817SFR1c.546+21A>G (n.546+21A>G)
c.507+21A>G (n.507+21A>G)
c.732+21A>G (n.732+21A>G)
 dbSNP gnomAD v4
10g.104124145A>TCA2574661906SFR1c.546+21A>T (n.546+21A>T)
c.507+21A>T (n.507+21A>T)
c.732+21A>T (n.732+21A>T)
 gnomAD v4
10g.104124146T>CCA2574661907SFR1c.546+22T>C (n.546+22T>C)
c.507+22T>C (n.507+22T>C)
c.732+22T>C (n.732+22T>C)
 gnomAD v4
10g.104124148_104124164dupCA5679803SFR1c.546+24_546+40dup (n.546+24_546+40dup)
c.507+24_507+40dup (n.507+24_507+40dup)
c.732+24_732+40dup (n.732+24_732+40dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104124147_104124148insAAAAAATCA2530744609SFR1c.546+23_546+24insAAAAAAT (n.546+23_546+24insAAAAAAT)
c.507+23_507+24insAAAAAAT (n.507+23_507+24insAAAAAAT)
c.732+23_732+24insAAAAAAT (n.732+23_732+24insAAAAAAT)
10g.104124148G>ACA471503433SFR1c.546+24G>A (n.546+24G>A)
c.507+24G>A (n.507+24G>A)
c.732+24G>A (n.732+24G>A)
 dbSNP gnomAD v4
10g.104124148G>CCA653553236SFR1c.546+24G>C (n.546+24G>C)
c.507+24G>C (n.507+24G>C)
c.732+24G>C (n.732+24G>C)
 COSMIC
10g.104124148G=CA1933463594SFR1c.546+24G= (n.546+24G=)
c.507+24G= (n.507+24G=)
c.732+24G= (n.732+24G=)
10g.104124148_104124149insAGATTCTTCA596111380SFR1c.546+24_546+25insAGATTCTT (n.546+24_546+25insAGATTCTT)
c.507+24_507+25insAGATTCTT (n.507+24_507+25insAGATTCTT)
c.732+24_732+25insAGATTCTT (n.732+24_732+25insAGATTCTT)
 dbSNP gnomAD v2
10g.104124149C>ACA2610806161SFR1c.546+25C>A (n.546+25C>A)
c.507+25C>A (n.507+25C>A)
c.732+25C>A (n.732+25C>A)
 gnomAD v4
10g.104124150A=CA1933463596SFR1c.546+26A= (n.546+26A=)
c.507+26A= (n.507+26A=)
c.732+26A= (n.732+26A=)
10g.104124150A>CCA2574661908SFR1c.546+26A>C (n.546+26A>C)
c.507+26A>C (n.507+26A>C)
c.732+26A>C (n.732+26A>C)
10g.104124150A>GCA5679804SFR1c.546+26A>G (n.546+26A>G)
c.507+26A>G (n.507+26A>G)
c.732+26A>G (n.732+26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.104124160_104124165delCA2610806162SFR1c.546+36_546+41del (n.546+36_546+41del)
c.507+36_507+41del (n.507+36_507+41del)
c.732+36_732+41del (n.732+36_732+41del)
 gnomAD v4
10g.104124154T>CCA2610806163SFR1c.546+30T>C (n.546+30T>C)
c.507+30T>C (n.507+30T>C)
c.732+30T>C (n.732+30T>C)
 gnomAD v4
10g.104124155T>ACA2610806164SFR1c.546+31T>A (n.546+31T>A)
c.507+31T>A (n.507+31T>A)
c.732+31T>A (n.732+31T>A)
 gnomAD v4
10g.104124158T>GCA596111381SFR1c.546+34T>G (n.546+34T>G)
c.507+34T>G (n.507+34T>G)
c.732+34T>G (n.732+34T>G)
 dbSNP gnomAD v2 gnomAD v4
10g.104124158T=CA1933463598SFR1c.546+34T= (n.546+34T=)
c.507+34T= (n.507+34T=)
c.732+34T= (n.732+34T=)
10g.104124159A>GCA2610806165SFR1c.546+35A>G (n.546+35A>G)
c.507+35A>G (n.507+35A>G)
c.732+35A>G (n.732+35A>G)
 gnomAD v4
10g.104124160T>GCA2610806166SFR1c.546+36T>G (n.546+36T>G)
c.507+36T>G (n.507+36T>G)
c.732+36T>G (n.732+36T>G)
 gnomAD v4
10g.104124162_104124164delCA2548673593SFR1c.546+38_546+40del (n.546+38_546+40del)
c.507+38_507+40del (n.507+38_507+40del)
c.732+38_732+40del (n.732+38_732+40del)
 gnomAD v4
10g.104124165A>GCA2610806167SFR1c.546+41A>G (n.546+41A>G)
c.507+41A>G (n.507+41A>G)
c.732+41A>G (n.732+41A>G)
 gnomAD v4
10g.104124165A>TCA2610806168SFR1c.546+41A>T (n.546+41A>T)
c.507+41A>T (n.507+41A>T)
c.732+41A>T (n.732+41A>T)
 gnomAD v4
10g.104124166C>ACA2610806169SFR1c.546+42C>A (n.546+42C>A)
c.507+42C>A (n.507+42C>A)
c.732+42C>A (n.732+42C>A)
 gnomAD v4
10g.104124167A=CA1933463600SFR1c.546+43A= (n.546+43A=)
c.507+43A= (n.507+43A=)
c.732+43A= (n.732+43A=)
10g.104124167A>GCA1933463601SFR1c.546+43A>G (n.546+43A>G)
c.507+43A>G (n.507+43A>G)
c.732+43A>G (n.732+43A>G)
 dbSNP
10g.104124169A>GCA2574661909SFR1c.546+45A>G (n.546+45A>G)
c.507+45A>G (n.507+45A>G)
c.732+45A>G (n.732+45A>G)
10g.104124170A>CCA2610806170SFR1c.546+46A>C (n.546+46A>C)
c.507+46A>C (n.507+46A>C)
c.732+46A>C (n.732+46A>C)
 gnomAD v4
10g.104124174_104124177delCA2610806171SFR1c.546+50_546+53del (n.546+50_546+53del)
c.507+50_507+53del (n.507+50_507+53del)
c.732+50_732+53del (n.732+50_732+53del)
 gnomAD v4
10g.104124175C>ACA2610806172SFR1c.546+51C>A (n.546+51C>A)
c.507+51C>A (n.507+51C>A)
c.732+51C>A (n.732+51C>A)
 gnomAD v4
10g.104124175_104124176insTTTCCTGTAATTTCA2610806173SFR1c.546+51_546+52insTTTCCTGTAATTT (n.546+51_546+52insTTTCCTGTAATTT)
c.507+51_507+52insTTTCCTGTAATTT (n.507+51_507+52insTTTCCTGTAATTT)
c.732+51_732+52insTTTCCTGTAATTT (n.732+51_732+52insTTTCCTGTAATTT)
 gnomAD v4
10g.104124176A=CA1933463602SFR1c.546+52A= (n.546+52A=)
c.507+52A= (n.507+52A=)
c.732+52A= (n.732+52A=)
10g.104124176A>GCA659212833SFR1c.546+52A>G (n.546+52A>G)
c.507+52A>G (n.507+52A>G)
c.732+52A>G (n.732+52A>G)
 dbSNP gnomAD v4
10g.104124176A>TCA932058065SFR1c.546+52A>T (n.546+52A>T)
c.507+52A>T (n.507+52A>T)
c.732+52A>T (n.732+52A>T)
 dbSNP gnomAD v3 gnomAD v4
10g.104124177G>ACA659212834SFR1c.546+53G>A (n.546+53G>A)
c.507+53G>A (n.507+53G>A)
c.732+53G>A (n.732+53G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.104124177G=CA1933463604SFR1c.546+53G= (n.546+53G=)
c.507+53G= (n.507+53G=)
c.732+53G= (n.732+53G=)
10g.104124177G>TCA2610806174SFR1c.546+53G>T (n.546+53G>T)
c.507+53G>T (n.507+53G>T)
c.732+53G>T (n.732+53G>T)
 gnomAD v4
10g.104124178G>ACA2610806175SFR1c.546+54G>A (n.546+54G>A)
c.507+54G>A (n.507+54G>A)
c.732+54G>A (n.732+54G>A)
 gnomAD v4
10g.104124179A>GCA2610806177SFR1c.546+55A>G (n.546+55A>G)
c.507+55A>G (n.507+55A>G)
c.732+55A>G (n.732+55A>G)
 gnomAD v4
10g.104124181_104124185delCA2610806176SFR1c.546+57_546+61del (n.546+57_546+61del)
c.507+57_507+61del (n.507+57_507+61del)
c.732+57_732+61del (n.732+57_732+61del)
 gnomAD v4
10g.104124180A>GCA2610806178SFR1c.546+56A>G (n.546+56A>G)
c.507+56A>G (n.507+56A>G)
c.732+56A>G (n.732+56A>G)
 gnomAD v4
10g.104124181A=CA1933463605SFR1c.546+57A= (n.546+57A=)
c.507+57A= (n.507+57A=)
c.732+57A= (n.732+57A=)
10g.104124181A>GCA659212846SFR1c.546+57A>G (n.546+57A>G)
c.507+57A>G (n.507+57A>G)
c.732+57A>G (n.732+57A>G)
 dbSNP gnomAD v4
10g.104124182G>ACA212433059SFR1c.546+58G>A (n.546+58G>A)
c.507+58G>A (n.507+58G>A)
c.732+58G>A (n.732+58G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124182G=CA1933463607SFR1c.546+58G= (n.546+58G=)
c.507+58G= (n.507+58G=)
c.732+58G= (n.732+58G=)
10g.104124182G>TCA1933463606SFR1c.546+58G>T (n.546+58G>T)
c.507+58G>T (n.507+58G>T)
c.732+58G>T (n.732+58G>T)
 dbSNP gnomAD v4
10g.104124182_104124183delCA2789322823SFR1c.546+58_546+59del (n.546+58_546+59del)
c.507+58_507+59del (n.507+58_507+59del)
c.732+58_732+59del (n.732+58_732+59del)
10g.104124183T>ACA2610806179SFR1c.546+59T>A (n.546+59T>A)
c.507+59T>A (n.507+59T>A)
c.732+59T>A (n.732+59T>A)
 gnomAD v4
10g.104124185A>GCA2610806180SFR1c.546+61A>G (n.546+61A>G)
c.507+61A>G (n.507+61A>G)
c.732+61A>G (n.732+61A>G)
 gnomAD v4
10g.104124188_104124189insATGCA2574661911SFR1c.546+64_546+65insATG (n.546+64_546+65insATG)
c.507+64_507+65insATG (n.507+64_507+65insATG)
c.732+64_732+65insATG (n.732+64_732+65insATG)
10g.104124189C>ACA2574661910SFR1c.546+65C>A (n.546+65C>A)
c.507+65C>A (n.507+65C>A)
c.732+65C>A (n.732+65C>A)
 gnomAD v4
10g.104124189C=CA1933463608SFR1c.546+65C= (n.546+65C=)
c.507+65C= (n.507+65C=)
c.732+65C= (n.732+65C=)
10g.104124189C>GCA2789322824SFR1c.546+65C>G (n.546+65C>G)
c.507+65C>G (n.507+65C>G)
c.732+65C>G (n.732+65C>G)
10g.104124189C>TCA212433062SFR1c.546+65C>T (n.546+65C>T)
c.507+65C>T (n.507+65C>T)
c.732+65C>T (n.732+65C>T)
 dbSNP
10g.104124194A=CA1933463610SFR1c.546+70A= (n.546+70A=)
c.507+70A= (n.507+70A=)
c.732+70A= (n.732+70A=)
10g.104124194A>TCA212433066SFR1c.546+70A>T (n.546+70A>T)
c.507+70A>T (n.507+70A>T)
c.732+70A>T (n.732+70A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124195T>CCA2610806181SFR1c.546+71T>C (n.546+71T>C)
c.507+71T>C (n.507+71T>C)
c.732+71T>C (n.732+71T>C)
 gnomAD v4
10g.104124197G>ACA2610806182SFR1c.546+73G>A (n.546+73G>A)
c.507+73G>A (n.507+73G>A)
c.732+73G>A (n.732+73G>A)
 gnomAD v4
10g.104124197G>TCA653553240SFR1c.546+73G>T (n.546+73G>T)
c.507+73G>T (n.507+73G>T)
c.732+73G>T (n.732+73G>T)
 gnomAD v4 COSMIC
10g.104124198A=CA1933463611SFR1c.546+74A= (n.546+74A=)
c.507+74A= (n.507+74A=)
c.732+74A= (n.732+74A=)
10g.104124198A>TCA1933463612SFR1c.546+74A>T (n.546+74A>T)
c.507+74A>T (n.507+74A>T)
c.732+74A>T (n.732+74A>T)
 dbSNP gnomAD v4
10g.104124199delCA2610806183SFR1c.546+75del (n.546+75del)
c.507+75del (n.507+75del)
c.732+75del (n.732+75del)
 gnomAD v4
10g.104124198_104124199insTCA2610806184SFR1c.546+74_546+75insT (n.546+74_546+75insT)
c.507+74_507+75insT (n.507+74_507+75insT)
c.732+74_732+75insT (n.732+74_732+75insT)
 gnomAD v4
10g.104124199A=CA1933463615SFR1c.546+75A= (n.546+75A=)
c.507+75A= (n.507+75A=)
c.732+75A= (n.732+75A=)
10g.104124199A>TCA212433084SFR1c.546+75A>T (n.546+75A>T)
c.507+75A>T (n.507+75A>T)
c.732+75A>T (n.732+75A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124199_104124200delinsATCA1933463614SFR1c.546+75_546+76delinsAT (n.546+75_546+76delinsAT)
c.507+75_507+76delinsAT (n.507+75_507+76delinsAT)
c.732+75_732+76delinsAT (n.732+75_732+76delinsAT)
10g.104124200T>ACA1933463616SFR1c.546+76T>A (n.546+76T>A)
c.507+76T>A (n.507+76T>A)
c.732+76T>A (n.732+76T>A)
 dbSNP gnomAD v4
10g.104124200T=CA1933463618SFR1c.546+76T= (n.546+76T=)
c.507+76T= (n.507+76T=)
c.732+76T= (n.732+76T=)
10g.104124210dupCA212433102SFR1c.546+86dup (n.546+86dup)
c.507+86dup (n.507+86dup)
c.732+86dup (n.732+86dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124209_104124210dupCA932058080SFR1c.546+85_546+86dup (n.546+85_546+86dup)
c.507+85_507+86dup (n.507+85_507+86dup)
c.732+85_732+86dup (n.732+85_732+86dup)
 gnomAD v3 gnomAD v4
10g.104124208_104124210dupCA2610806185SFR1c.546+84_546+86dup (n.546+84_546+86dup)
c.507+84_507+86dup (n.507+84_507+86dup)
c.732+84_732+86dup (n.732+84_732+86dup)
 gnomAD v4
10g.104124210delCA212433094SFR1c.546+86del (n.546+86del)
c.507+86del (n.507+86del)
c.732+86del (n.732+86del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.104124209_104124210delCA2610806188SFR1c.546+85_546+86del (n.546+85_546+86del)
c.507+85_507+86del (n.507+85_507+86del)
c.732+85_732+86del (n.732+85_732+86del)
 gnomAD v4
10g.104124208_104124210delCA2610806187SFR1c.546+84_546+86del (n.546+84_546+86del)
c.507+84_507+86del (n.507+84_507+86del)
c.732+84_732+86del (n.732+84_732+86del)
 gnomAD v4
10g.104124207_104124210delCA2610806186SFR1c.546+83_546+86del (n.546+83_546+86del)
c.507+83_507+86del (n.507+83_507+86del)
c.732+83_732+86del (n.732+83_732+86del)
 gnomAD v4

Number of alleles fetched