Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574052C>ACA516353265SYN1c.1932G>T (p.Val644=)
c.70+636G>T (n.70+636G>T)
 gnomAD v4
Xg.47574052C>GCA516353267SYN1c.1932G>C (p.Val644=)
c.70+636G>C (n.70+636G>C)
 gnomAD v4
Xg.47574052C>TCA516353268SYN1c.1932G>A (p.Val644=)
c.70+636G>A (n.70+636G>A)
 gnomAD v4
Xg.47574053A>CCA412822104SYN1c.1931T>G (p.Val644Gly)
c.70+635T>G (n.70+635T>G)
Xg.47574053A>GCA412822105SYN1c.1931T>C (p.Val644Ala)
c.70+635T>C (n.70+635T>C)
Xg.47574053A>TCA412822106SYN1c.1931T>A (p.Val644Glu)
c.70+635T>A (n.70+635T>A)
Xg.47574054C>ACA412822107SYN1c.1930G>T (p.Val644Leu)
c.70+634G>T (n.70+634G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574054C=CA2427971174SYN1c.1930G= (p.Val644=)
c.70+634G= (n.70+634G=)
Xg.47574054C>GCA412822108SYN1c.1930G>C (p.Val644Leu)
c.70+634G>C (n.70+634G>C)
Xg.47574054C>TCA412822109SYN1c.1930G>A (p.Val644Met)
c.70+634G>A (n.70+634G>A)
 ClinVar gnomAD v4
Xg.47574055G>ACA516353269SYN1c.1929C>T (p.Asp643=)
c.70+633C>T (n.70+633C>T)
 gnomAD v4
Xg.47574055G>CCA412822110SYN1c.1929C>G (p.Asp643Glu)
c.70+633C>G (n.70+633C>G)
Xg.47574055G>TCA412822111SYN1c.1929C>A (p.Asp643Glu)
c.70+633C>A (n.70+633C>A)
 gnomAD v4
Xg.47574056T>ACA412822112SYN1c.1928A>T (p.Asp643Val)
c.70+632A>T (n.70+632A>T)
Xg.47574056T>CCA412822113SYN1c.1928A>G (p.Asp643Gly)
c.70+632A>G (n.70+632A>G)
 gnomAD v4
Xg.47574056T>GCA412822114SYN1c.1928A>C (p.Asp643Ala)
c.70+632A>C (n.70+632A>C)
Xg.47574057C>ACA412822115SYN1c.1927G>T (p.Asp643Tyr)
c.70+631G>T (n.70+631G>T)
 gnomAD v4
Xg.47574057C>GCA412822116SYN1c.1927G>C (p.Asp643His)
c.70+631G>C (n.70+631G>C)
Xg.47574057C>TCA412822117SYN1c.1927G>A (p.Asp643Asn)
c.70+631G>A (n.70+631G>A)
 gnomAD v4
Xg.47574058C>ACA412822118SYN1c.1926G>T (p.Gln642His)
c.70+630G>T (n.70+630G>T)
 gnomAD v4
Xg.47574058C>GCA412822119SYN1c.1926G>C (p.Gln642His)
c.70+630G>C (n.70+630G>C)
 gnomAD v4
Xg.47574058C>TCA516353273SYN1c.1926G>A (p.Gln642=)
c.70+630G>A (n.70+630G>A)
 dbSNP
Xg.47574059T>ACA412822120SYN1c.1925A>T (p.Gln642Leu)
c.70+629A>T (n.70+629A>T)
 gnomAD v4
Xg.47574059T>CCA10398344SYN1c.1925A>G (p.Gln642Arg)
c.70+629A>G (n.70+629A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574059T>GCA412822123SYN1c.1925A>C (p.Gln642Pro)
c.70+629A>C (n.70+629A>C)
Xg.47574059T=CA2427971175SYN1c.1925A= (p.Gln642=)
c.70+629A= (n.70+629A=)
Xg.47574060G>ACA412822125SYN1c.1924C>T (p.Gln642Ter)
c.70+628C>T (n.70+628C>T)
 gnomAD v4
Xg.47574060G>CCA412822126SYN1c.1924C>G (p.Gln642Glu)
c.70+628C>G (n.70+628C>G)
Xg.47574060G>TCA412822129SYN1c.1924C>A (p.Gln642Lys)
c.70+628C>A (n.70+628C>A)
 gnomAD v4
Xg.47574061G>ACA516353274SYN1c.1923C>T (p.Ser641=)
c.70+627C>T (n.70+627C>T)
 gnomAD v4
Xg.47574061G>CCA412822132SYN1c.1923C>G (p.Ser641Arg)
c.70+627C>G (n.70+627C>G)
Xg.47574061G>TCA412822131SYN1c.1923C>A (p.Ser641Arg)
c.70+627C>A (n.70+627C>A)
 gnomAD v4
Xg.47574062C>ACA412822134SYN1c.1922G>T (p.Ser641Ile)
c.70+626G>T (n.70+626G>T)
 gnomAD v4
Xg.47574062C>GCA412822135SYN1c.1922G>C (p.Ser641Thr)
c.70+626G>C (n.70+626G>C)
Xg.47574062C>TCA412822137SYN1c.1922G>A (p.Ser641Asn)
c.70+626G>A (n.70+626G>A)
 gnomAD v4
Xg.47574063T>ACA412822139SYN1c.1921A>T (p.Ser641Cys)
c.70+625A>T (n.70+625A>T)
Xg.47574063T>CCA412822141SYN1c.1921A>G (p.Ser641Gly)
c.70+625A>G (n.70+625A>G)
 gnomAD v4
Xg.47574063T>GCA412822143SYN1c.1921A>C (p.Ser641Arg)
c.70+625A>C (n.70+625A>C)
Xg.47574064G>ACA516353275SYN1c.1920C>T (p.Pro640=)
c.70+624C>T (n.70+624C>T)
 gnomAD v4
Xg.47574064G>CCA516353276SYN1c.1920C>G (p.Pro640=)
c.70+624C>G (n.70+624C>G)
Xg.47574064G>TCA516353277SYN1c.1920C>A (p.Pro640=)
c.70+624C>A (n.70+624C>A)
 gnomAD v4
Xg.47574065G>ACA412822148SYN1c.1919C>T (p.Pro640Leu)
c.70+623C>T (n.70+623C>T)
Xg.47574065G>CCA412822145SYN1c.1919C>G (p.Pro640Arg)
c.70+623C>G (n.70+623C>G)
Xg.47574065G>TCA412822146SYN1c.1919C>A (p.Pro640His)
c.70+623C>A (n.70+623C>A)
 gnomAD v4
Xg.47574066G>ACA412822151SYN1c.1918C>T (p.Pro640Ser)
c.70+622C>T (n.70+622C>T)
 gnomAD v4
Xg.47574066G>CCA412822153SYN1c.1918C>G (p.Pro640Ala)
c.70+622C>G (n.70+622C>G)
Xg.47574066G>TCA412822154SYN1c.1918C>A (p.Pro640Thr)
c.70+622C>A (n.70+622C>A)
 gnomAD v4
Xg.47574067T>ACA412822156SYN1c.1917A>T (p.Lys639Asn)
c.70+621A>T (n.70+621A>T)
Xg.47574067T>CCA516353278SYN1c.1917A>G (p.Lys639=)
c.70+621A>G (n.70+621A>G)
Xg.47574067T>GCA329057186SYN1c.1917A>C (p.Lys639Asn)
c.70+621A>C (n.70+621A>C)
 dbSNP
Xg.47574067T=CA2427971176SYN1c.1917A= (p.Lys639=)
c.70+621A= (n.70+621A=)
Xg.47574068T>ACA412822160SYN1c.1916A>T (p.Lys639Ile)
c.70+620A>T (n.70+620A>T)
Xg.47574068T>CCA412822163SYN1c.1916A>G (p.Lys639Arg)
c.70+620A>G (n.70+620A>G)
 gnomAD v4
Xg.47574068T>GCA412822162SYN1c.1916A>C (p.Lys639Thr)
c.70+620A>C (n.70+620A>C)
Xg.47574069T>ACA412822166SYN1c.1915A>T (p.Lys639Ter)
c.70+619A>T (n.70+619A>T)
Xg.47574069T>CCA412822167SYN1c.1915A>G (p.Lys639Glu)
c.70+619A>G (n.70+619A>G)
Xg.47574069T>GCA412822169SYN1c.1915A>C (p.Lys639Gln)
c.70+619A>C (n.70+619A>C)
 COSMIC
Xg.47574070C>ACA412822172SYN1c.1914G>T (p.Gln638His)
c.70+618G>T (n.70+618G>T)
 gnomAD v4
Xg.47574070C>GCA412822174SYN1c.1914G>C (p.Gln638His)
c.70+618G>C (n.70+618G>C)
Xg.47574070C>TCA516353280SYN1c.1914G>A (p.Gln638=)
c.70+618G>A (n.70+618G>A)
 gnomAD v4
Xg.47574071T>ACA412822180SYN1c.1913A>T (p.Gln638Leu)
c.70+617A>T (n.70+617A>T)
 gnomAD v4
Xg.47574071T>CCA412822178SYN1c.1913A>G (p.Gln638Arg)
c.70+617A>G (n.70+617A>G)
 gnomAD v4
Xg.47574071T>GCA412822176SYN1c.1913A>C (p.Gln638Pro)
c.70+617A>C (n.70+617A>C)
Xg.47574072G>ACA412822182SYN1c.1912C>T (p.Gln638Ter)
c.70+616C>T (n.70+616C>T)
 gnomAD v4
Xg.47574072G>CCA412822183SYN1c.1912C>G (p.Gln638Glu)
c.70+616C>G (n.70+616C>G)
Xg.47574072G=CA2427971177SYN1c.1912C= (p.Gln638=)
c.70+616C= (n.70+616C=)
Xg.47574072G>TCA412822185SYN1c.1912C>A (p.Gln638Lys)
c.70+616C>A (n.70+616C>A)
 dbSNP gnomAD v4
Xg.47574073G>ACA516353281SYN1c.1911C>T (p.Ala637=)
c.70+615C>T (n.70+615C>T)
Xg.47574073G>CCA516353282SYN1c.1911C>G (p.Ala637=)
c.70+615C>G (n.70+615C>G)
Xg.47574073G>TCA516353283SYN1c.1911C>A (p.Ala637=)
c.70+615C>A (n.70+615C>A)
 gnomAD v4
Xg.47574074G>ACA412822188SYN1c.1910C>T (p.Ala637Val)
c.70+614C>T (n.70+614C>T)
 gnomAD v4
Xg.47574074G>CCA412822189SYN1c.1910C>G (p.Ala637Gly)
c.70+614C>G (n.70+614C>G)
Xg.47574074G>TCA412822192SYN1c.1910C>A (p.Ala637Asp)
c.70+614C>A (n.70+614C>A)
 gnomAD v4
Xg.47574075C>ACA412822194SYN1c.1909G>T (p.Ala637Ser)
c.70+613G>T (n.70+613G>T)
 gnomAD v4
Xg.47574075C>GCA412822198SYN1c.1909G>C (p.Ala637Pro)
c.70+613G>C (n.70+613G>C)
Xg.47574075C>TCA412822195SYN1c.1909G>A (p.Ala637Thr)
c.70+613G>A (n.70+613G>A)
Xg.47574076C>ACA516353286SYN1c.1908G>T (p.Leu636=)
c.70+612G>T (n.70+612G>T)
 gnomAD v4
Xg.47574076C>GCA516353287SYN1c.1908G>C (p.Leu636=)
c.70+612G>C (n.70+612G>C)
Xg.47574076C>TCA516353288SYN1c.1908G>A (p.Leu636=)
c.70+612G>A (n.70+612G>A)
 gnomAD v4
Xg.47574077A>CCA412822200SYN1c.1907T>G (p.Leu636Arg)
c.70+611T>G (n.70+611T>G)
Xg.47574077A>GCA412822201SYN1c.1907T>C (p.Leu636Pro)
c.70+611T>C (n.70+611T>C)
 gnomAD v4
Xg.47574077A>TCA412822203SYN1c.1907T>A (p.Leu636Gln)
c.70+611T>A (n.70+611T>A)
Xg.47574078G>ACA516353291SYN1c.1906C>T (p.Leu636=)
c.70+610C>T (n.70+610C>T)
 gnomAD v4
Xg.47574078G>CCA412822206SYN1c.1906C>G (p.Leu636Val)
c.70+610C>G (n.70+610C>G)
Xg.47574078G>TCA412822207SYN1c.1906C>A (p.Leu636Met)
c.70+610C>A (n.70+610C>A)
 gnomAD v4
Xg.47574082_47574194delCA2580101019SYN1c.1794_1906del (p.Thr601GlufsTer?)
c.70+498_70+610del (n.70+498_70+610del)
 ClinVar
Xg.47574079C>ACA412822209SYN1c.1905G>T (p.Gln635His)
c.70+609G>T (n.70+609G>T)
 ClinVar gnomAD v4
Xg.47574079C=CA2427971178SYN1c.1905G= (p.Gln635=)
c.70+609G= (n.70+609G=)
Xg.47574079C>GCA412822211SYN1c.1905G>C (p.Gln635His)
c.70+609G>C (n.70+609G>C)
Xg.47574079C>TCA516353293SYN1c.1905G>A (p.Gln635=)
c.70+609G>A (n.70+609G>A)
 dbSNP gnomAD v4
Xg.47574080T>ACA412822220SYN1c.1904A>T (p.Gln635Leu)
c.70+608A>T (n.70+608A>T)
Xg.47574080T>CCA412822222SYN1c.1904A>G (p.Gln635Arg)
c.70+608A>G (n.70+608A>G)
 gnomAD v4
Xg.47574080T>GCA412822223SYN1c.1904A>C (p.Gln635Pro)
c.70+608A>C (n.70+608A>C)
Xg.47574081G>ACA412822224SYN1c.1903C>T (p.Gln635Ter)
c.70+607C>T (n.70+607C>T)
 gnomAD v4
Xg.47574081G>CCA412822226SYN1c.1903C>G (p.Gln635Glu)
c.70+607C>G (n.70+607C>G)
Xg.47574081G>TCA412822225SYN1c.1903C>A (p.Gln635Lys)
c.70+607C>A (n.70+607C>A)
 gnomAD v4
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)

Number of alleles fetched