Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574082_47574194delCA2580101019SYN1c.1794_1906del (p.Thr601GlufsTer?)
c.70+498_70+610del (n.70+498_70+610del)
 ClinVar
Xg.47574082T>ACA516353296SYN1c.1902A>T (p.Pro634=)
c.70+606A>T (n.70+606A>T)
Xg.47574082T>CCA516353298SYN1c.1902A>G (p.Pro634=)
c.70+606A>G (n.70+606A>G)
Xg.47574082T>GCA516353299SYN1c.1902A>C (p.Pro634=)
c.70+606A>C (n.70+606A>C)
Xg.47574083G>ACA412822227SYN1c.1901C>T (p.Pro634Leu)
c.70+605C>T (n.70+605C>T)
Xg.47574083G>CCA412822229SYN1c.1901C>G (p.Pro634Arg)
c.70+605C>G (n.70+605C>G)
Xg.47574083G>TCA412822228SYN1c.1901C>A (p.Pro634Gln)
c.70+605C>A (n.70+605C>A)
 gnomAD v4
Xg.47574084G>ACA412822230SYN1c.1900C>T (p.Pro634Ser)
c.70+604C>T (n.70+604C>T)
 dbSNP gnomAD v4
Xg.47574084G>CCA412822232SYN1c.1900C>G (p.Pro634Ala)
c.70+604C>G (n.70+604C>G)
 gnomAD v4
Xg.47574084G>TCA412822231SYN1c.1900C>A (p.Pro634Thr)
c.70+604C>A (n.70+604C>A)
 gnomAD v4
Xg.47574084_47574085insCCA2565733911SYN1c.1899_1900insG (p.Pro634AlafsTer?)
c.70+603_70+604insG (n.70+603_70+604insG)
Xg.47574085T>ACA412822233SYN1c.1899A>T (p.Lys633Asn)
c.70+603A>T (n.70+603A>T)
Xg.47574085T>CCA516353300SYN1c.1899A>G (p.Lys633=)
c.70+603A>G (n.70+603A>G)
Xg.47574085T>GCA412822234SYN1c.1899A>C (p.Lys633Asn)
c.70+603A>C (n.70+603A>C)
Xg.47574086T>ACA412822235SYN1c.1898A>T (p.Lys633Ile)
c.70+602A>T (n.70+602A>T)
Xg.47574086T>CCA412822236SYN1c.1898A>G (p.Lys633Arg)
c.70+602A>G (n.70+602A>G)
 gnomAD v4
Xg.47574086T>GCA412822237SYN1c.1898A>C (p.Lys633Thr)
c.70+602A>C (n.70+602A>C)
Xg.47574086T=CA2427971179SYN1c.1898A= (p.Lys633=)
c.70+602A= (n.70+602A=)
Xg.47574086_47574087insGGCA2537905157SYN1c.1897_1898insCC (p.Lys633ThrfsTer?)
c.70+601_70+602insCC (n.70+601_70+602insCC)
Xg.47574087T>ACA412822238SYN1c.1897A>T (p.Lys633Ter)
c.70+601A>T (n.70+601A>T)
Xg.47574087T>CCA412822239SYN1c.1897A>G (p.Lys633Glu)
c.70+601A>G (n.70+601A>G)
Xg.47574087T>GCA412822240SYN1c.1897A>C (p.Lys633Gln)
c.70+601A>C (n.70+601A>C)
Xg.47574087_47574089dupCA2427971180SYN1c.1895_1897dup (p.Pro632_Lys633insThr)
c.70+599_70+601dup (n.70+599_70+601dup)
 dbSNP
Xg.47574088G>ACA516353307SYN1c.1896C>T (p.Pro632=)
c.70+600C>T (n.70+600C>T)
 gnomAD v4
Xg.47574088G>CCA516353308SYN1c.1896C>G (p.Pro632=)
c.70+600C>G (n.70+600C>G)
Xg.47574088G>TCA516353309SYN1c.1896C>A (p.Pro632=)
c.70+600C>A (n.70+600C>A)
 gnomAD v4
Xg.47574089G>ACA412822241SYN1c.1895C>T (p.Pro632Leu)
c.70+599C>T (n.70+599C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574089G>CCA412822242SYN1c.1895C>G (p.Pro632Arg)
c.70+599C>G (n.70+599C>G)
Xg.47574089G=CA2427971181SYN1c.1895C= (p.Pro632=)
c.70+599C= (n.70+599C=)
Xg.47574089G>TCA412822243SYN1c.1895C>A (p.Pro632His)
c.70+599C>A (n.70+599C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574090G>ACA412822246SYN1c.1894C>T (p.Pro632Ser)
c.70+598C>T (n.70+598C>T)
 gnomAD v4
Xg.47574090G>CCA412822245SYN1c.1894C>G (p.Pro632Ala)
c.70+598C>G (n.70+598C>G)
Xg.47574090G>TCA412822244SYN1c.1894C>A (p.Pro632Thr)
c.70+598C>A (n.70+598C>A)
 gnomAD v4
Xg.47574091A>CCA516353313SYN1c.1893T>G (p.Arg631=)
c.70+597T>G (n.70+597T>G)
Xg.47574091A>GCA516353314SYN1c.1893T>C (p.Arg631=)
c.70+597T>C (n.70+597T>C)
 gnomAD v4
Xg.47574091A>TCA516353315SYN1c.1893T>A (p.Arg631=)
c.70+597T>A (n.70+597T>A)
Xg.47574092C>ACA412822247SYN1c.1892G>T (p.Arg631Leu)
c.70+596G>T (n.70+596G>T)
 gnomAD v4
Xg.47574092C>GCA412822248SYN1c.1892G>C (p.Arg631Pro)
c.70+596G>C (n.70+596G>C)
 gnomAD v4
Xg.47574092C>TCA412822249SYN1c.1892G>A (p.Arg631His)
c.70+596G>A (n.70+596G>A)
 gnomAD v4
Xg.47574093G>ACA412822250SYN1c.1891C>T (p.Arg631Cys)
c.70+595C>T (n.70+595C>T)
 gnomAD v4
Xg.47574093G>CCA412822251SYN1c.1891C>G (p.Arg631Gly)
c.70+595C>G (n.70+595C>G)
Xg.47574093G>TCA412822252SYN1c.1891C>A (p.Arg631Ser)
c.70+595C>A (n.70+595C>A)
 gnomAD v4
Xg.47574094T>ACA516353319SYN1c.1890A>T (p.Gly630=)
c.70+594A>T (n.70+594A>T)
Xg.47574094T>CCA516353320SYN1c.1890A>G (p.Gly630=)
c.70+594A>G (n.70+594A>G)
 gnomAD v4
Xg.47574094T>GCA516353321SYN1c.1890A>C (p.Gly630=)
c.70+594A>C (n.70+594A>C)
Xg.47574095C>ACA412822253SYN1c.1889G>T (p.Gly630Val)
c.70+593G>T (n.70+593G>T)
 gnomAD v4
Xg.47574095C>GCA412822254SYN1c.1889G>C (p.Gly630Ala)
c.70+593G>C (n.70+593G>C)
Xg.47574095C>TCA412822255SYN1c.1889G>A (p.Gly630Glu)
c.70+593G>A (n.70+593G>A)
 gnomAD v4
Xg.47574096C>ACA412822256SYN1c.1888G>T (p.Gly630Ter)
c.70+592G>T (n.70+592G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574096C=CA2427971182SYN1c.1888G= (p.Gly630=)
c.70+592G= (n.70+592G=)
Xg.47574096C>GCA412822257SYN1c.1888G>C (p.Gly630Arg)
c.70+592G>C (n.70+592G>C)
 gnomAD v4
Xg.47574096C>TCA412822258SYN1c.1888G>A (p.Gly630Arg)
c.70+592G>A (n.70+592G>A)
 gnomAD v4
Xg.47574097A=CA2427971183SYN1c.1887T= (p.Ala629=)
c.70+591T= (n.70+591T=)
Xg.47574097A>CCA516353324SYN1c.1887T>G (p.Ala629=)
c.70+591T>G (n.70+591T>G)
Xg.47574097A>GCA516353325SYN1c.1887T>C (p.Ala629=)
c.70+591T>C (n.70+591T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574097A>TCA516353323SYN1c.1887T>A (p.Ala629=)
c.70+591T>A (n.70+591T>A)
 gnomAD v4
Xg.47574098G>ACA412822261SYN1c.1886C>T (p.Ala629Val)
c.70+590C>T (n.70+590C>T)
 gnomAD v4
Xg.47574098G>CCA412822260SYN1c.1886C>G (p.Ala629Gly)
c.70+590C>G (n.70+590C>G)
Xg.47574098G>TCA412822259SYN1c.1886C>A (p.Ala629Asp)
c.70+590C>A (n.70+590C>A)
 gnomAD v4
Xg.47574099C>ACA412822262SYN1c.1885G>T (p.Ala629Ser)
c.70+589G>T (n.70+589G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574099C=CA2427971184SYN1c.1885G= (p.Ala629=)
c.70+589G= (n.70+589G=)
Xg.47574099C>GCA412822263SYN1c.1885G>C (p.Ala629Pro)
c.70+589G>C (n.70+589G>C)
 gnomAD v4
Xg.47574099C>TCA412822264SYN1c.1885G>A (p.Ala629Thr)
c.70+589G>A (n.70+589G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574100G>ACA516353327SYN1c.1884C>T (p.Pro628=)
c.70+588C>T (n.70+588C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574100G>CCA516353328SYN1c.1884C>G (p.Pro628=)
c.70+588C>G (n.70+588C>G)
Xg.47574100G>TCA516353329SYN1c.1884C>A (p.Pro628=)
c.70+588C>A (n.70+588C>A)
 gnomAD v4
Xg.47574103delCA2523321858SYN1c.1884del (p.Ala629LeufsTer?)
c.70+588del (n.70+588del)
 gnomAD v4
Xg.47574102_47574103delCA2579596676SYN1c.1883_1884del (p.Pro628ArgfsTer?)
c.70+587_70+588del (n.70+587_70+588del)
 gnomAD v4
Xg.47574101G>ACA412822265SYN1c.1883C>T (p.Pro628Leu)
c.70+587C>T (n.70+587C>T)
 gnomAD v4
Xg.47574101G>CCA412822266SYN1c.1883C>G (p.Pro628Arg)
c.70+587C>G (n.70+587C>G)
Xg.47574101G>TCA412822267SYN1c.1883C>A (p.Pro628His)
c.70+587C>A (n.70+587C>A)
 gnomAD v4
Xg.47574102G>ACA412822268SYN1c.1882C>T (p.Pro628Ser)
c.70+586C>T (n.70+586C>T)
 gnomAD v4
Xg.47574102G>CCA412822269SYN1c.1882C>G (p.Pro628Ala)
c.70+586C>G (n.70+586C>G)
Xg.47574102G>TCA412822270SYN1c.1882C>A (p.Pro628Thr)
c.70+586C>A (n.70+586C>A)
 gnomAD v4
Xg.47574103G>ACA10398345SYN1c.1881C>T (p.Gly627=)
c.70+585C>T (n.70+585C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574103G>CCA516353331SYN1c.1881C>G (p.Gly627=)
c.70+585C>G (n.70+585C>G)
Xg.47574103G=CA2427971185SYN1c.1881C= (p.Gly627=)
c.70+585C= (n.70+585C=)
Xg.47574103G>TCA516353330SYN1c.1881C>A (p.Gly627=)
c.70+585C>A (n.70+585C>A)
 gnomAD v4
Xg.47574104C>ACA412822272SYN1c.1880G>T (p.Gly627Val)
c.70+584G>T (n.70+584G>T)
 gnomAD v4
Xg.47574104C>GCA412822273SYN1c.1880G>C (p.Gly627Ala)
c.70+584G>C (n.70+584G>C)
Xg.47574104C>TCA412822274SYN1c.1880G>A (p.Gly627Asp)
c.70+584G>A (n.70+584G>A)
 gnomAD v4
Xg.47574106delCA2693584636SYN1c.1880del (p.Gly627AlafsTer?)
c.70+584del (n.70+584del)
 gnomAD v4
Xg.47574105C>ACA412822278SYN1c.1879G>T (p.Gly627Cys)
c.70+583G>T (n.70+583G>T)
 gnomAD v4
Xg.47574105C>GCA412822276SYN1c.1879G>C (p.Gly627Arg)
c.70+583G>C (n.70+583G>C)
Xg.47574105C>TCA412822277SYN1c.1879G>A (p.Gly627Ser)
c.70+583G>A (n.70+583G>A)
 gnomAD v4
Xg.47574106C>ACA516353332SYN1c.1878G>T (p.Pro626=)
c.70+582G>T (n.70+582G>T)
 gnomAD v4
Xg.47574106C=CA2427971186SYN1c.1878G= (p.Pro626=)
c.70+582G= (n.70+582G=)
Xg.47574106C>GCA516353333SYN1c.1878G>C (p.Pro626=)
c.70+582G>C (n.70+582G>C)
 gnomAD v4
Xg.47574106C>TCA516353334SYN1c.1878G>A (p.Pro626=)
c.70+582G>A (n.70+582G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574107G>ACA412822280SYN1c.1877C>T (p.Pro626Leu)
c.70+581C>T (n.70+581C>T)
 gnomAD v4
Xg.47574107G>CCA412822281SYN1c.1877C>G (p.Pro626Arg)
c.70+581C>G (n.70+581C>G)
Xg.47574107G>TCA412822282SYN1c.1877C>A (p.Pro626Gln)
c.70+581C>A (n.70+581C>A)
 gnomAD v4
Xg.47574108G>ACA412822284SYN1c.1876C>T (p.Pro626Ser)
c.70+580C>T (n.70+580C>T)
Xg.47574108G>CCA412822285SYN1c.1876C>G (p.Pro626Ala)
c.70+580C>G (n.70+580C>G)
Xg.47574108G>TCA412822287SYN1c.1876C>A (p.Pro626Thr)
c.70+580C>A (n.70+580C>A)
 gnomAD v4
Xg.47574109G>ACA516353337SYN1c.1875C>T (p.Gly625=)
c.70+579C>T (n.70+579C>T)
 gnomAD v4
Xg.47574109G>CCA516353338SYN1c.1875C>G (p.Gly625=)
c.70+579C>G (n.70+579C>G)
Xg.47574109G>TCA516353339SYN1c.1875C>A (p.Gly625=)
c.70+579C>A (n.70+579C>A)
 gnomAD v4
Xg.47574110C>ACA412822289SYN1c.1874G>T (p.Gly625Val)
c.70+578G>T (n.70+578G>T)
 gnomAD v4
Xg.47574110C>GCA412822291SYN1c.1874G>C (p.Gly625Ala)
c.70+578G>C (n.70+578G>C)
Xg.47574110C>TCA412822292SYN1c.1874G>A (p.Gly625Asp)
c.70+578G>A (n.70+578G>A)
 gnomAD v4
Xg.47574110_47574111dupCA2579596677SYN1c.1873_1874dup (p.Pro626AlafsTer?)
c.70+577_70+578dup (n.70+577_70+578dup)
 gnomAD v4
Xg.47574111C>ACA412822294SYN1c.1873G>T (p.Gly625Cys)
c.70+577G>T (n.70+577G>T)
 gnomAD v4
Xg.47574111C>GCA412822296SYN1c.1873G>C (p.Gly625Arg)
c.70+577G>C (n.70+577G>C)
Xg.47574111C>TCA412822297SYN1c.1873G>A (p.Gly625Ser)
c.70+577G>A (n.70+577G>A)
 gnomAD v4
Xg.47574112G>ACA516353343SYN1c.1872C>T (p.Ser624=)
c.70+576C>T (n.70+576C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574112G>CCA412822299SYN1c.1872C>G (p.Ser624Arg)
c.70+576C>G (n.70+576C>G)
 gnomAD v4
Xg.47574112G=CA2427971187SYN1c.1872C= (p.Ser624=)
c.70+576C= (n.70+576C=)
Xg.47574112G>TCA412822300SYN1c.1872C>A (p.Ser624Arg)
c.70+576C>A (n.70+576C>A)
 gnomAD v4
Xg.47574113C>ACA412822302SYN1c.1871G>T (p.Ser624Ile)
c.70+575G>T (n.70+575G>T)
 gnomAD v4
Xg.47574113C>GCA412822306SYN1c.1871G>C (p.Ser624Thr)
c.70+575G>C (n.70+575G>C)
Xg.47574113C>TCA412822304SYN1c.1871G>A (p.Ser624Asn)
c.70+575G>A (n.70+575G>A)
 gnomAD v4
Xg.47574114T>ACA412822307SYN1c.1870A>T (p.Ser624Cys)
c.70+574A>T (n.70+574A>T)
Xg.47574114T>CCA412822308SYN1c.1870A>G (p.Ser624Gly)
c.70+574A>G (n.70+574A>G)
 gnomAD v4
Xg.47574114T>GCA412822309SYN1c.1870A>C (p.Ser624Arg)
c.70+574A>C (n.70+574A>C)
Xg.47574115G>ACA516353347SYN1c.1869C>T (p.Pro623=)
c.70+573C>T (n.70+573C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574115G>CCA516353348SYN1c.1869C>G (p.Pro623=)
c.70+573C>G (n.70+573C>G)
Xg.47574115G=CA2427971188SYN1c.1869C= (p.Pro623=)
c.70+573C= (n.70+573C=)
Xg.47574115G>TCA516353349SYN1c.1869C>A (p.Pro623=)
c.70+573C>A (n.70+573C>A)
 gnomAD v4
Xg.47574116G>ACA412822310SYN1c.1868C>T (p.Pro623Leu)
c.70+572C>T (n.70+572C>T)
 gnomAD v4
Xg.47574116G>CCA412822312SYN1c.1868C>G (p.Pro623Arg)
c.70+572C>G (n.70+572C>G)
Xg.47574116G=CA2427971189SYN1c.1868C= (p.Pro623=)
c.70+572C= (n.70+572C=)
Xg.47574116G>TCA412822314SYN1c.1868C>A (p.Pro623His)
c.70+572C>A (n.70+572C>A)
 dbSNP gnomAD v4
Xg.47574117G>ACA329057197SYN1c.1867C>T (p.Pro623Ser)
c.70+571C>T (n.70+571C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574117G>CCA412822316SYN1c.1867C>G (p.Pro623Ala)
c.70+571C>G (n.70+571C>G)
Xg.47574117G=CA2427971190SYN1c.1867C= (p.Pro623=)
c.70+571C= (n.70+571C=)
Xg.47574117G>TCA412822317SYN1c.1867C>A (p.Pro623Thr)
c.70+571C>A (n.70+571C>A)
 gnomAD v4
Xg.47574118C>ACA516353353SYN1c.1866G>T (p.Arg622=)
c.70+570G>T (n.70+570G>T)
 gnomAD v4
Xg.47574118C=CA2427971191SYN1c.1866G= (p.Arg622=)
c.70+570G= (n.70+570G=)
Xg.47574118C>GCA516353352SYN1c.1866G>C (p.Arg622=)
c.70+570G>C (n.70+570G>C)
 gnomAD v4
Xg.47574118C>TCA516353351SYN1c.1866G>A (p.Arg622=)
c.70+570G>A (n.70+570G>A)
 dbSNP gnomAD v4
Xg.47574119C>ACA412822319SYN1c.1865G>T (p.Arg622Leu)
c.70+569G>T (n.70+569G>T)
 gnomAD v4
Xg.47574119C>GCA412822320SYN1c.1865G>C (p.Arg622Pro)
c.70+569G>C (n.70+569G>C)
Xg.47574119C>TCA412822321SYN1c.1865G>A (p.Arg622Gln)
c.70+569G>A (n.70+569G>A)
 gnomAD v4
Xg.47574120G>ACA412822323SYN1c.1864C>T (p.Arg622Trp)
c.70+568C>T (n.70+568C>T)
 ClinVar gnomAD v4
Xg.47574120G>CCA412822324SYN1c.1864C>G (p.Arg622Gly)
c.70+568C>G (n.70+568C>G)
Xg.47574120G>TCA516353354SYN1c.1864C>A (p.Arg622=)
c.70+568C>A (n.70+568C>A)
 gnomAD v4
Xg.47574121A>CCA516353358SYN1c.1863T>G (p.Pro621=)
c.70+567T>G (n.70+567T>G)
Xg.47574121A>GCA516353357SYN1c.1863T>C (p.Pro621=)
c.70+567T>C (n.70+567T>C)
 gnomAD v4
Xg.47574121A>TCA516353355SYN1c.1863T>A (p.Pro621=)
c.70+567T>A (n.70+567T>A)
Xg.47574122G>ACA412822326SYN1c.1862C>T (p.Pro621Leu)
c.70+566C>T (n.70+566C>T)
Xg.47574122G>CCA412822328SYN1c.1862C>G (p.Pro621Arg)
c.70+566C>G (n.70+566C>G)
Xg.47574122G>TCA412822329SYN1c.1862C>A (p.Pro621His)
c.70+566C>A (n.70+566C>A)
 gnomAD v4
Xg.47574123G>ACA412822331SYN1c.1861C>T (p.Pro621Ser)
c.70+565C>T (n.70+565C>T)
 gnomAD v4
Xg.47574123G>CCA412822332SYN1c.1861C>G (p.Pro621Ala)
c.70+565C>G (n.70+565C>G)
Xg.47574123G>TCA412822333SYN1c.1861C>A (p.Pro621Thr)
c.70+565C>A (n.70+565C>A)
 gnomAD v4
Xg.47574124C>ACA412822335SYN1c.1860G>T (p.Gln620His)
c.70+564G>T (n.70+564G>T)
 gnomAD v4
Xg.47574124C>GCA412822336SYN1c.1860G>C (p.Gln620His)
c.70+564G>C (n.70+564G>C)
Xg.47574124C>TCA516353362SYN1c.1860G>A (p.Gln620=)
c.70+564G>A (n.70+564G>A)
 gnomAD v4
Xg.47574125T>ACA412822338SYN1c.1859A>T (p.Gln620Leu)
c.70+563A>T (n.70+563A>T)
Xg.47574125T>CCA412822340SYN1c.1859A>G (p.Gln620Arg)
c.70+563A>G (n.70+563A>G)
Xg.47574125T>GCA412822342SYN1c.1859A>C (p.Gln620Pro)
c.70+563A>C (n.70+563A>C)
Xg.47574126G>ACA412822345SYN1c.1858C>T (p.Gln620Ter)
c.70+562C>T (n.70+562C>T)
 gnomAD v4
Xg.47574126G>CCA412822347SYN1c.1858C>G (p.Gln620Glu)
c.70+562C>G (n.70+562C>G)
Xg.47574126G>TCA412822343SYN1c.1858C>A (p.Gln620Lys)
c.70+562C>A (n.70+562C>A)
 gnomAD v4
Xg.47574127C>ACA412822348SYN1c.1857G>T (p.Gln619His)
c.70+561G>T (n.70+561G>T)
 gnomAD v4
Xg.47574127C>GCA412822349SYN1c.1857G>C (p.Gln619His)
c.70+561G>C (n.70+561G>C)
Xg.47574127C>TCA516353364SYN1c.1857G>A (p.Gln619=)
c.70+561G>A (n.70+561G>A)
 gnomAD v4
Xg.47574128T>ACA412822352SYN1c.1856A>T (p.Gln619Leu)
c.70+560A>T (n.70+560A>T)
 gnomAD v4
Xg.47574128T>CCA412822354SYN1c.1856A>G (p.Gln619Arg)
c.70+560A>G (n.70+560A>G)
 gnomAD v4
Xg.47574128T>GCA412822355SYN1c.1856A>C (p.Gln619Pro)
c.70+560A>C (n.70+560A>C)
Xg.47574129G>ACA412822360SYN1c.1855C>T (p.Gln619Ter)
c.70+559C>T (n.70+559C>T)
 gnomAD v4
Xg.47574129G>CCA412822359SYN1c.1855C>G (p.Gln619Glu)
c.70+559C>G (n.70+559C>G)
Xg.47574129G=CA2427971192SYN1c.1855C= (p.Gln619=)
c.70+559C= (n.70+559C=)
Xg.47574129G>TCA412822357SYN1c.1855C>A (p.Gln619Lys)
c.70+559C>A (n.70+559C>A)
 ClinVar dbSNP gnomAD v4
Xg.47574130C>ACA516353368SYN1c.1854G>T (p.Thr618=)
c.70+558G>T (n.70+558G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574130C=CA2427971193SYN1c.1854G= (p.Thr618=)
c.70+558G= (n.70+558G=)
Xg.47574130C>GCA516353369SYN1c.1854G>C (p.Thr618=)
c.70+558G>C (n.70+558G>C)
Xg.47574130C>TCA516353371SYN1c.1854G>A (p.Thr618=)
c.70+558G>A (n.70+558G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574131G>ACA412822362SYN1c.1853C>T (p.Thr618Met)
c.70+557C>T (n.70+557C>T)
 gnomAD v4
Xg.47574131G>CCA412822363SYN1c.1853C>G (p.Thr618Arg)
c.70+557C>G (n.70+557C>G)
Xg.47574131G>TCA412822365SYN1c.1853C>A (p.Thr618Lys)
c.70+557C>A (n.70+557C>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574132T>ACA412822367SYN1c.1852A>T (p.Thr618Ser)
c.70+556A>T (n.70+556A>T)
Xg.47574132T>CCA412822369SYN1c.1852A>G (p.Thr618Ala)
c.70+556A>G (n.70+556A>G)
 gnomAD v4
Xg.47574132T>GCA412822370SYN1c.1852A>C (p.Thr618Pro)
c.70+556A>C (n.70+556A>C)
Xg.47574133G>ACA516353374SYN1c.1851C>T (p.Thr617=)
c.70+555C>T (n.70+555C>T)
 gnomAD v4
Xg.47574133G>CCA516353376SYN1c.1851C>G (p.Thr617=)
c.70+555C>G (n.70+555C>G)
Xg.47574133G>TCA516353378SYN1c.1851C>A (p.Thr617=)
c.70+555C>A (n.70+555C>A)
 ClinVar dbSNP gnomAD v4
Xg.47574134G>ACA412822371SYN1c.1850C>T (p.Thr617Ile)
c.70+554C>T (n.70+554C>T)
 gnomAD v4
Xg.47574134G>CCA412822374SYN1c.1850C>G (p.Thr617Ser)
c.70+554C>G (n.70+554C>G)
 gnomAD v4
Xg.47574134G>TCA412822372SYN1c.1850C>A (p.Thr617Asn)
c.70+554C>A (n.70+554C>A)
Xg.47574135T>ACA412822375SYN1c.1849A>T (p.Thr617Ser)
c.70+553A>T (n.70+553A>T)
Xg.47574135T>CCA412822376SYN1c.1849A>G (p.Thr617Ala)
c.70+553A>G (n.70+553A>G)
 gnomAD v4
Xg.47574135T>GCA412822377SYN1c.1849A>C (p.Thr617Pro)
c.70+553A>C (n.70+553A>C)
Xg.47574136G>ACA516353379SYN1c.1848C>T (p.Pro616=)
c.70+552C>T (n.70+552C>T)
 gnomAD v4
Xg.47574136G>CCA516353381SYN1c.1848C>G (p.Pro616=)
c.70+552C>G (n.70+552C>G)
Xg.47574136G>TCA516353382SYN1c.1848C>A (p.Pro616=)
c.70+552C>A (n.70+552C>A)
 gnomAD v4
Xg.47574137G>ACA412822380SYN1c.1847C>T (p.Pro616Leu)
c.70+551C>T (n.70+551C>T)
Xg.47574137G>CCA412822381SYN1c.1847C>G (p.Pro616Arg)
c.70+551C>G (n.70+551C>G)
Xg.47574137G>TCA412822383SYN1c.1847C>A (p.Pro616His)
c.70+551C>A (n.70+551C>A)
 gnomAD v4
Xg.47574138G>ACA412822384SYN1c.1846C>T (p.Pro616Ser)
c.70+550C>T (n.70+550C>T)
 gnomAD v4
Xg.47574138G>CCA412822385SYN1c.1846C>G (p.Pro616Ala)
c.70+550C>G (n.70+550C>G)
Xg.47574138G>TCA412822386SYN1c.1846C>A (p.Pro616Thr)
c.70+550C>A (n.70+550C>A)
 gnomAD v4
Xg.47574139T>ACA516353386SYN1c.1845A>T (p.Pro615=)
c.70+549A>T (n.70+549A>T)
Xg.47574139T>CCA516353385SYN1c.1845A>G (p.Pro615=)
c.70+549A>G (n.70+549A>G)
 gnomAD v4
Xg.47574139T>GCA516353384SYN1c.1845A>C (p.Pro615=)
c.70+549A>C (n.70+549A>C)
Xg.47574140G>ACA412822388SYN1c.1844C>T (p.Pro615Leu)
c.70+548C>T (n.70+548C>T)
Xg.47574140G>CCA412822390SYN1c.1844C>G (p.Pro615Arg)
c.70+548C>G (n.70+548C>G)
Xg.47574140G>TCA412822391SYN1c.1844C>A (p.Pro615Gln)
c.70+548C>A (n.70+548C>A)
 gnomAD v4
Xg.47574141G>ACA412822393SYN1c.1843C>T (p.Pro615Ser)
c.70+547C>T (n.70+547C>T)
 gnomAD v4
Xg.47574141G>CCA412822396SYN1c.1843C>G (p.Pro615Ala)
c.70+547C>G (n.70+547C>G)
 gnomAD v4
Xg.47574141G>TCA412822394SYN1c.1843C>A (p.Pro615Thr)
c.70+547C>A (n.70+547C>A)
 gnomAD v4
Xg.47574142C>ACA516353388SYN1c.1842G>T (p.Gly614=)
c.70+546G>T (n.70+546G>T)
 gnomAD v4
Xg.47574142C>GCA516353389SYN1c.1842G>C (p.Gly614=)
c.70+546G>C (n.70+546G>C)
Xg.47574142C>TCA516353390SYN1c.1842G>A (p.Gly614=)
c.70+546G>A (n.70+546G>A)
 gnomAD v4
Xg.47574144delCA2551079782SYN1c.1842del (p.Pro615HisfsTer?)
c.70+546del (n.70+546del)
 gnomAD v4
Xg.47574143C>ACA412822398SYN1c.1841G>T (p.Gly614Val)
c.70+545G>T (n.70+545G>T)
 gnomAD v4
Xg.47574143C>GCA412822399SYN1c.1841G>C (p.Gly614Ala)
c.70+545G>C (n.70+545G>C)
 gnomAD v4
Xg.47574143C>TCA412822400SYN1c.1841G>A (p.Gly614Glu)
c.70+545G>A (n.70+545G>A)
Xg.47574144C>ACA412822402SYN1c.1840G>T (p.Gly614Trp)
c.70+544G>T (n.70+544G>T)
 gnomAD v4
Xg.47574144C>GCA412822404SYN1c.1840G>C (p.Gly614Arg)
c.70+544G>C (n.70+544G>C)
Xg.47574144C>TCA412822405SYN1c.1840G>A (p.Gly614Arg)
c.70+544G>A (n.70+544G>A)
 gnomAD v4
Xg.47574145A>CCA516353391SYN1c.1839T>G (p.Thr613=)
c.70+543T>G (n.70+543T>G)
Xg.47574145A>GCA516353392SYN1c.1839T>C (p.Thr613=)
c.70+543T>C (n.70+543T>C)
 gnomAD v4
Xg.47574145A>TCA516353393SYN1c.1839T>A (p.Thr613=)
c.70+543T>A (n.70+543T>A)
Xg.47574146G>ACA412822410SYN1c.1838C>T (p.Thr613Ile)
c.70+542C>T (n.70+542C>T)
 gnomAD v4
Xg.47574146G>CCA412822409SYN1c.1838C>G (p.Thr613Ser)
c.70+542C>G (n.70+542C>G)
Xg.47574146G>TCA412822407SYN1c.1838C>A (p.Thr613Asn)
c.70+542C>A (n.70+542C>A)
 gnomAD v4
Xg.47574147T>ACA412822412SYN1c.1837A>T (p.Thr613Ser)
c.70+541A>T (n.70+541A>T)
 gnomAD v4
Xg.47574147T>CCA412822413SYN1c.1837A>G (p.Thr613Ala)
c.70+541A>G (n.70+541A>G)
Xg.47574147T>GCA412822415SYN1c.1837A>C (p.Thr613Pro)
c.70+541A>C (n.70+541A>C)
 ClinVar dbSNP gnomAD v4
Xg.47574147T=CA2427971194SYN1c.1837A= (p.Thr613=)
c.70+541A= (n.70+541A=)
Xg.47574148G>ACA516353395SYN1c.1836C>T (p.Arg612=)
c.70+540C>T (n.70+540C>T)
Xg.47574148G>CCA516353396SYN1c.1836C>G (p.Arg612=)
c.70+540C>G (n.70+540C>G)
Xg.47574148G>TCA516353397SYN1c.1836C>A (p.Arg612=)
c.70+540C>A (n.70+540C>A)
 gnomAD v4
Xg.47574149delCA2693584756SYN1c.1835del (p.Arg612ProfsTer?)
c.70+539del (n.70+539del)
 gnomAD v4
Xg.47574149C>ACA412822417SYN1c.1835G>T (p.Arg612Leu)
c.70+539G>T (n.70+539G>T)
 gnomAD v4
Xg.47574149C=CA2427971195SYN1c.1835G= (p.Arg612=)
c.70+539G= (n.70+539G=)
Xg.47574149C>GCA412822418SYN1c.1835G>C (p.Arg612Pro)
c.70+539G>C (n.70+539G>C)
Xg.47574149C>TCA412822419SYN1c.1835G>A (p.Arg612His)
c.70+539G>A (n.70+539G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574150G>ACA412822420SYN1c.1834C>T (p.Arg612Cys)
c.70+538C>T (n.70+538C>T)
 gnomAD v4
Xg.47574150G>CCA412822424SYN1c.1834C>G (p.Arg612Gly)
c.70+538C>G (n.70+538C>G)
Xg.47574150G>TCA412822422SYN1c.1834C>A (p.Arg612Ser)
c.70+538C>A (n.70+538C>A)
 gnomAD v4
Xg.47574153delCA2693584768SYN1c.1834del (p.Arg612AlafsTer?)
c.70+538del (n.70+538del)
 gnomAD v4
Xg.47574151G>ACA516353398SYN1c.1833C>T (p.Pro611=)
c.70+537C>T (n.70+537C>T)
 gnomAD v4
Xg.47574151G>CCA516353401SYN1c.1833C>G (p.Pro611=)
c.70+537C>G (n.70+537C>G)
Xg.47574151G>TCA516353399SYN1c.1833C>A (p.Pro611=)
c.70+537C>A (n.70+537C>A)
 gnomAD v4
Xg.47574152G>ACA412822426SYN1c.1832C>T (p.Pro611Leu)
c.70+536C>T (n.70+536C>T)
 gnomAD v4
Xg.47574152G>CCA412822427SYN1c.1832C>G (p.Pro611Arg)
c.70+536C>G (n.70+536C>G)
Xg.47574152G>TCA412822428SYN1c.1832C>A (p.Pro611His)
c.70+536C>A (n.70+536C>A)
Xg.47574153G>ACA412822430SYN1c.1831C>T (p.Pro611Ser)
c.70+535C>T (n.70+535C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574153G>CCA412822432SYN1c.1831C>G (p.Pro611Ala)
c.70+535C>G (n.70+535C>G)
Xg.47574153G=CA2427971196SYN1c.1831C= (p.Pro611=)
c.70+535C= (n.70+535C=)
Xg.47574153G>TCA412822433SYN1c.1831C>A (p.Pro611Thr)
c.70+535C>A (n.70+535C>A)
 gnomAD v4
Xg.47574154C>ACA516353404SYN1c.1830G>T (p.Val610=)
c.70+534G>T (n.70+534G>T)
 gnomAD v4
Xg.47574154C>GCA516353405SYN1c.1830G>C (p.Val610=)
c.70+534G>C (n.70+534G>C)
Xg.47574154C>TCA516353406SYN1c.1830G>A (p.Val610=)
c.70+534G>A (n.70+534G>A)
 gnomAD v4
Xg.47574155A>CCA412822434SYN1c.1829T>G (p.Val610Gly)
c.70+533T>G (n.70+533T>G)
Xg.47574155A>GCA412822435SYN1c.1829T>C (p.Val610Ala)
c.70+533T>C (n.70+533T>C)
Xg.47574155A>TCA412822436SYN1c.1829T>A (p.Val610Glu)
c.70+533T>A (n.70+533T>A)
Xg.47574156C>ACA412822437SYN1c.1828G>T (p.Val610Leu)
c.70+532G>T (n.70+532G>T)
 gnomAD v4
Xg.47574156C>GCA412822439SYN1c.1828G>C (p.Val610Leu)
c.70+532G>C (n.70+532G>C)
Xg.47574156C>TCA412822441SYN1c.1828G>A (p.Val610Met)
c.70+532G>A (n.70+532G>A)
 gnomAD v4
Xg.47574157G>ACA516353408SYN1c.1827C>T (p.Pro609=)
c.70+531C>T (n.70+531C>T)
 gnomAD v4
Xg.47574157G>CCA516353409SYN1c.1827C>G (p.Pro609=)
c.70+531C>G (n.70+531C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574157G=CA2427971197SYN1c.1827C= (p.Pro609=)
c.70+531C= (n.70+531C=)
Xg.47574157G>TCA516353410SYN1c.1827C>A (p.Pro609=)
c.70+531C>A (n.70+531C>A)
 gnomAD v4
Xg.47574158G>ACA412822445SYN1c.1826C>T (p.Pro609Leu)
c.70+530C>T (n.70+530C>T)
Xg.47574158G>CCA412822443SYN1c.1826C>G (p.Pro609Arg)
c.70+530C>G (n.70+530C>G)
Xg.47574158G>TCA412822444SYN1c.1826C>A (p.Pro609His)
c.70+530C>A (n.70+530C>A)
Xg.47574159G>ACA412822447SYN1c.1825C>T (p.Pro609Ser)
c.70+529C>T (n.70+529C>T)
 gnomAD v4
Xg.47574159G>CCA412822449SYN1c.1825C>G (p.Pro609Ala)
c.70+529C>G (n.70+529C>G)
Xg.47574159G>TCA412822450SYN1c.1825C>A (p.Pro609Thr)
c.70+529C>A (n.70+529C>A)
 gnomAD v4
Xg.47574160A>CCA516353412SYN1c.1824T>G (p.Gly608=)
c.70+528T>G (n.70+528T>G)
Xg.47574160A>GCA516353413SYN1c.1824T>C (p.Gly608=)
c.70+528T>C (n.70+528T>C)
 gnomAD v4
Xg.47574160A>TCA516353414SYN1c.1824T>A (p.Gly608=)
c.70+528T>A (n.70+528T>A)
Xg.47574161C>ACA412822452SYN1c.1823G>T (p.Gly608Val)
c.70+527G>T (n.70+527G>T)
Xg.47574161C>GCA412822453SYN1c.1823G>C (p.Gly608Ala)
c.70+527G>C (n.70+527G>C)
 gnomAD v4
Xg.47574161C>TCA412822455SYN1c.1823G>A (p.Gly608Asp)
c.70+527G>A (n.70+527G>A)
 gnomAD v4
Xg.47574162C>ACA329057198SYN1c.1822G>T (p.Gly608Cys)
c.70+526G>T (n.70+526G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574162C=CA2427971198SYN1c.1822G= (p.Gly608=)
c.70+526G= (n.70+526G=)
Xg.47574162C>GCA412822458SYN1c.1822G>C (p.Gly608Arg)
c.70+526G>C (n.70+526G>C)
Xg.47574162C>TCA412822459SYN1c.1822G>A (p.Gly608Ser)
c.70+526G>A (n.70+526G>A)
 gnomAD v4
Xg.47574163C>ACA516353415SYN1c.1821G>T (p.Ala607=)
c.70+525G>T (n.70+525G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574163C=CA2427971199SYN1c.1821G= (p.Ala607=)
c.70+525G= (n.70+525G=)
Xg.47574163C>GCA516353416SYN1c.1821G>C (p.Ala607=)
c.70+525G>C (n.70+525G>C)
Xg.47574163C>TCA516353417SYN1c.1821G>A (p.Ala607=)
c.70+525G>A (n.70+525G>A)
 ClinVar gnomAD v4
Xg.47574164G>ACA412822461SYN1c.1820C>T (p.Ala607Val)
c.70+524C>T (n.70+524C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.47574164G>CCA412822463SYN1c.1820C>G (p.Ala607Gly)
c.70+524C>G (n.70+524C>G)
 ClinVar gnomAD v4
Xg.47574164G=CA2427971200SYN1c.1820C= (p.Ala607=)
c.70+524C= (n.70+524C=)
Xg.47574164G>TCA412822464SYN1c.1820C>A (p.Ala607Glu)
c.70+524C>A (n.70+524C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574165C>ACA412822470SYN1c.1819G>T (p.Ala607Ser)
c.70+523G>T (n.70+523G>T)
Xg.47574165C=CA2427971201SYN1c.1819G= (p.Ala607=)
c.70+523G= (n.70+523G=)
Xg.47574165C>GCA412822468SYN1c.1819G>C (p.Ala607Pro)
c.70+523G>C (n.70+523G>C)
Xg.47574165C>TCA412822466SYN1c.1819G>A (p.Ala607Thr)
c.70+523G>A (n.70+523G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574166C>ACA412822471SYN1c.1818G>T (p.Gln606His)
c.70+522G>T (n.70+522G>T)
Xg.47574166C=CA2427971202SYN1c.1818G= (p.Gln606=)
c.70+522G= (n.70+522G=)
Xg.47574166C>GCA412822473SYN1c.1818G>C (p.Gln606His)
c.70+522G>C (n.70+522G>C)
 gnomAD v4
Xg.47574166C>TCA329057201SYN1c.1818G>A (p.Gln606=)
c.70+522G>A (n.70+522G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574167T>ACA412822475SYN1c.1817A>T (p.Gln606Leu)
c.70+521A>T (n.70+521A>T)
Xg.47574167T>CCA412822477SYN1c.1817A>G (p.Gln606Arg)
c.70+521A>G (n.70+521A>G)
 gnomAD v4
Xg.47574167T>GCA412822478SYN1c.1817A>C (p.Gln606Pro)
c.70+521A>C (n.70+521A>C)
Xg.47574168G>ACA412822480SYN1c.1816C>T (p.Gln606Ter)
c.70+520C>T (n.70+520C>T)
 gnomAD v4
Xg.47574168G>CCA412822482SYN1c.1816C>G (p.Gln606Glu)
c.70+520C>G (n.70+520C>G)
Xg.47574168G>TCA412822483SYN1c.1816C>A (p.Gln606Lys)
c.70+520C>A (n.70+520C>A)
 gnomAD v4
Xg.47574169G>ACA516353422SYN1c.1815C>T (p.Ser605=)
c.70+519C>T (n.70+519C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574169G>CCA412822485SYN1c.1815C>G (p.Ser605Arg)
c.70+519C>G (n.70+519C>G)
Xg.47574169G=CA2427971203SYN1c.1815C= (p.Ser605=)
c.70+519C= (n.70+519C=)
Xg.47574169G>TCA412822486SYN1c.1815C>A (p.Ser605Arg)
c.70+519C>A (n.70+519C>A)
 gnomAD v4
Xg.47574170C>ACA412822487SYN1c.1814G>T (p.Ser605Ile)
c.70+518G>T (n.70+518G>T)
 gnomAD v4
Xg.47574170C>GCA412822489SYN1c.1814G>C (p.Ser605Thr)
c.70+518G>C (n.70+518G>C)
Xg.47574170C>TCA412822491SYN1c.1814G>A (p.Ser605Asn)
c.70+518G>A (n.70+518G>A)
 gnomAD v4
Xg.47574171T>ACA412822494SYN1c.1813A>T (p.Ser605Cys)
c.70+517A>T (n.70+517A>T)
Xg.47574171T>CCA412822496SYN1c.1813A>G (p.Ser605Gly)
c.70+517A>G (n.70+517A>G)
 gnomAD v4
Xg.47574171T>GCA412822493SYN1c.1813A>C (p.Ser605Arg)
c.70+517A>C (n.70+517A>C)
 ClinVar gnomAD v4
Xg.47574172G>ACA516353426SYN1c.1812C>T (p.Ala604=)
c.70+516C>T (n.70+516C>T)
 gnomAD v4
Xg.47574172G>CCA516353428SYN1c.1812C>G (p.Ala604=)
c.70+516C>G (n.70+516C>G)
Xg.47574172G>TCA516353430SYN1c.1812C>A (p.Ala604=)
c.70+516C>A (n.70+516C>A)
Xg.47574173G>ACA329057203SYN1c.1811C>T (p.Ala604Val)
c.70+515C>T (n.70+515C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574173G>CCA412822498SYN1c.1811C>G (p.Ala604Gly)
c.70+515C>G (n.70+515C>G)
Xg.47574173G=CA2427971204SYN1c.1811C= (p.Ala604=)
c.70+515C= (n.70+515C=)
Xg.47574173G>TCA412822500SYN1c.1811C>A (p.Ala604Asp)
c.70+515C>A (n.70+515C>A)
 gnomAD v4
Xg.47574174C>ACA412822501SYN1c.1810G>T (p.Ala604Ser)
c.70+514G>T (n.70+514G>T)
Xg.47574174C>GCA412822503SYN1c.1810G>C (p.Ala604Pro)
c.70+514G>C (n.70+514G>C)
Xg.47574174C>TCA412822505SYN1c.1810G>A (p.Ala604Thr)
c.70+514G>A (n.70+514G>A)
 gnomAD v4
Xg.47574175C>ACA412822508SYN1c.1809G>T (p.Gln603His)
c.70+513G>T (n.70+513G>T)
 gnomAD v4
Xg.47574175C>GCA412822507SYN1c.1809G>C (p.Gln603His)
c.70+513G>C (n.70+513G>C)
Xg.47574175C>TCA516353431SYN1c.1809G>A (p.Gln603=)
c.70+513G>A (n.70+513G>A)
 gnomAD v4
Xg.47574176T>ACA412822511SYN1c.1808A>T (p.Gln603Leu)
c.70+512A>T (n.70+512A>T)
Xg.47574176T>CCA412822512SYN1c.1808A>G (p.Gln603Arg)
c.70+512A>G (n.70+512A>G)
 gnomAD v4
Xg.47574176T>GCA412822514SYN1c.1808A>C (p.Gln603Pro)
c.70+512A>C (n.70+512A>C)
Xg.47574177G>ACA412822515SYN1c.1807C>T (p.Gln603Ter)
c.70+511C>T (n.70+511C>T)
Xg.47574177G>CCA412822517SYN1c.1807C>G (p.Gln603Glu)
c.70+511C>G (n.70+511C>G)
Xg.47574177G>TCA412822519SYN1c.1807C>A (p.Gln603Lys)
c.70+511C>A (n.70+511C>A)
 gnomAD v4
Xg.47574178G>ACA516353432SYN1c.1806C>T (p.Arg602=)
c.70+510C>T (n.70+510C>T)
 gnomAD v4
Xg.47574178G>CCA516353434SYN1c.1806C>G (p.Arg602=)
c.70+510C>G (n.70+510C>G)
Xg.47574178G>TCA516353435SYN1c.1806C>A (p.Arg602=)
c.70+510C>A (n.70+510C>A)
 gnomAD v4
Xg.47574179C>ACA412822523SYN1c.1805G>T (p.Arg602Leu)
c.70+509G>T (n.70+509G>T)
 gnomAD v4
Xg.47574179C>GCA412822521SYN1c.1805G>C (p.Arg602Pro)
c.70+509G>C (n.70+509G>C)
Xg.47574179C>TCA412822522SYN1c.1805G>A (p.Arg602His)
c.70+509G>A (n.70+509G>A)
 gnomAD v4
Xg.47574180G>ACA412822525SYN1c.1804C>T (p.Arg602Cys)
c.70+508C>T (n.70+508C>T)
 gnomAD v4
Xg.47574180G>CCA412822527SYN1c.1804C>G (p.Arg602Gly)
c.70+508C>G (n.70+508C>G)
Xg.47574180G>TCA412822528SYN1c.1804C>A (p.Arg602Ser)
c.70+508C>A (n.70+508C>A)
 gnomAD v4
Xg.47574180_47574181delinsGTCA2427971205SYN1c.1803_1804delinsAC (p.Thr601=)
c.70+507_70+508delinsAC (n.70+507_70+508delinsAC)
Xg.47574181delCA641900863SYN1c.1803del (p.Arg602AlafsTer?)
c.70+507del (n.70+507del)
 dbSNP gnomAD v2
Xg.47574181T>ACA516353437SYN1c.1803A>T (p.Thr601=)
c.70+507A>T (n.70+507A>T)
Xg.47574181T>CCA516353438SYN1c.1803A>G (p.Thr601=)
c.70+507A>G (n.70+507A>G)
 gnomAD v4
Xg.47574181T>GCA516353436SYN1c.1803A>C (p.Thr601=)
c.70+507A>C (n.70+507A>C)
Xg.47574182G>ACA412822529SYN1c.1802C>T (p.Thr601Ile)
c.70+506C>T (n.70+506C>T)
 gnomAD v4
Xg.47574182G>CCA412822530SYN1c.1802C>G (p.Thr601Arg)
c.70+506C>G (n.70+506C>G)
 dbSNP gnomAD v2
Xg.47574182G=CA2427971206SYN1c.1802C= (p.Thr601=)
c.70+506C= (n.70+506C=)
Xg.47574182G>TCA412822531SYN1c.1802C>A (p.Thr601Lys)
c.70+506C>A (n.70+506C>A)

Number of alleles fetched