Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574351_47574423delCA2820775724SYN1c.1564_1636del (p.Ala522ProfsTer?)
c.70+268_70+340del (n.70+268_70+340del)
Xg.47574361_47574444delCA2693585170SYN1c.1545_1628del (p.Gln516_Pro543del)
c.70+249_70+332del (n.70+249_70+332del)
 gnomAD v4
Xg.47574398T>ACA412823191SYN1c.1586A>T (p.Gln529Leu)
c.70+290A>T (n.70+290A>T)
Xg.47574398T>CCA412823193SYN1c.1586A>G (p.Gln529Arg)
c.70+290A>G (n.70+290A>G)
Xg.47574398T>GCA412823195SYN1c.1586A>C (p.Gln529Pro)
c.70+290A>C (n.70+290A>C)
Xg.47574399G>ACA412823197SYN1c.1585C>T (p.Gln529Ter)
c.70+289C>T (n.70+289C>T)
Xg.47574399G>CCA412823199SYN1c.1585C>G (p.Gln529Glu)
c.70+289C>G (n.70+289C>G)
Xg.47574399G>TCA412823200SYN1c.1585C>A (p.Gln529Lys)
c.70+289C>A (n.70+289C>A)
 gnomAD v4
Xg.47574400A>CCA516353997SYN1c.1584T>G (p.Gly528=)
c.70+288T>G (n.70+288T>G)
Xg.47574400A>GCA516353998SYN1c.1584T>C (p.Gly528=)
c.70+288T>C (n.70+288T>C)
 gnomAD v4
Xg.47574400A>TCA516353999SYN1c.1584T>A (p.Gly528=)
c.70+288T>A (n.70+288T>A)
Xg.47574401C>ACA412823202SYN1c.1583G>T (p.Gly528Val)
c.70+287G>T (n.70+287G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574401C=CA2427971289SYN1c.1583G= (p.Gly528=)
c.70+287G= (n.70+287G=)
Xg.47574401C>GCA412823204SYN1c.1583G>C (p.Gly528Ala)
c.70+287G>C (n.70+287G>C)
Xg.47574401C>TCA412823206SYN1c.1583G>A (p.Gly528Asp)
c.70+287G>A (n.70+287G>A)
Xg.47574402C>ACA412823210SYN1c.1582G>T (p.Gly528Cys)
c.70+286G>T (n.70+286G>T)
Xg.47574402C>GCA412823208SYN1c.1582G>C (p.Gly528Arg)
c.70+286G>C (n.70+286G>C)
Xg.47574402C>TCA412823207SYN1c.1582G>A (p.Gly528Ser)
c.70+286G>A (n.70+286G>A)
Xg.47574403C>ACA412823211SYN1c.1581G>T (p.Gln527His)
c.70+285G>T (n.70+285G>T)
 gnomAD v4
Xg.47574403C=CA2427971290SYN1c.1581G= (p.Gln527=)
c.70+285G= (n.70+285G=)
Xg.47574403C>GCA412823213SYN1c.1581G>C (p.Gln527His)
c.70+285G>C (n.70+285G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574403C>TCA516354000SYN1c.1581G>A (p.Gln527=)
c.70+285G>A (n.70+285G>A)
Xg.47574404T>ACA412823214SYN1c.1580A>T (p.Gln527Leu)
c.70+284A>T (n.70+284A>T)
Xg.47574404T>CCA412823216SYN1c.1580A>G (p.Gln527Arg)
c.70+284A>G (n.70+284A>G)
 gnomAD v4
Xg.47574404T>GCA412823217SYN1c.1580A>C (p.Gln527Pro)
c.70+284A>C (n.70+284A>C)
Xg.47574405G>ACA412823219SYN1c.1579C>T (p.Gln527Ter)
c.70+283C>T (n.70+283C>T)
Xg.47574405G>CCA412823221SYN1c.1579C>G (p.Gln527Glu)
c.70+283C>G (n.70+283C>G)
Xg.47574405G>TCA412823222SYN1c.1579C>A (p.Gln527Lys)
c.70+283C>A (n.70+283C>A)
Xg.47574407delCA2501666735SYN1c.1579del (p.Gln527ArgfsTer?)
c.70+283del (n.70+283del)
Xg.47574406G>ACA516354001SYN1c.1578C>T (p.Thr526=)
c.70+282C>T (n.70+282C>T)
Xg.47574406G>CCA329057324SYN1c.1578C>G (p.Thr526=)
c.70+282C>G (n.70+282C>G)
 ClinVar dbSNP gnomAD v2
Xg.47574406G=CA2427971291SYN1c.1578C= (p.Thr526=)
c.70+282C= (n.70+282C=)
Xg.47574406G>TCA516354002SYN1c.1578C>A (p.Thr526=)
c.70+282C>A (n.70+282C>A)
 gnomAD v4
Xg.47574407G>ACA412823225SYN1c.1577C>T (p.Thr526Ile)
c.70+281C>T (n.70+281C>T)
 ClinVar dbSNP
Xg.47574407G>CCA412823226SYN1c.1577C>G (p.Thr526Ser)
c.70+281C>G (n.70+281C>G)
 gnomAD v4
Xg.47574407G>TCA412823227SYN1c.1577C>A (p.Thr526Asn)
c.70+281C>A (n.70+281C>A)
 gnomAD v4
Xg.47574408T>ACA412823232SYN1c.1576A>T (p.Thr526Ser)
c.70+280A>T (n.70+280A>T)
 gnomAD v4
Xg.47574408T>CCA412823230SYN1c.1576A>G (p.Thr526Ala)
c.70+280A>G (n.70+280A>G)
Xg.47574408T>GCA412823229SYN1c.1576A>C (p.Thr526Pro)
c.70+280A>C (n.70+280A>C)
Xg.47574409C>ACA516354003SYN1c.1575G>T (p.Pro525=)
c.70+279G>T (n.70+279G>T)
 gnomAD v4
Xg.47574409C=CA2427971292SYN1c.1575G= (p.Pro525=)
c.70+279G= (n.70+279G=)
Xg.47574409C>GCA516354004SYN1c.1575G>C (p.Pro525=)
c.70+279G>C (n.70+279G>C)
 gnomAD v4
Xg.47574409C>TCA10398348SYN1c.1575G>A (p.Pro525=)
c.70+279G>A (n.70+279G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574410G>ACA412823245SYN1c.1574C>T (p.Pro525Leu)
c.70+278C>T (n.70+278C>T)
 gnomAD v4
Xg.47574410G>CCA412823235SYN1c.1574C>G (p.Pro525Arg)
c.70+278C>G (n.70+278C>G)
 gnomAD v4
Xg.47574410G>TCA412823243SYN1c.1574C>A (p.Pro525Gln)
c.70+278C>A (n.70+278C>A)
Xg.47574411G>ACA412823249SYN1c.1573C>T (p.Pro525Ser)
c.70+277C>T (n.70+277C>T)
 gnomAD v4
Xg.47574411G>CCA412823251SYN1c.1573C>G (p.Pro525Ala)
c.70+277C>G (n.70+277C>G)
Xg.47574411G>TCA412823253SYN1c.1573C>A (p.Pro525Thr)
c.70+277C>A (n.70+277C>A)
 gnomAD v4
Xg.47574412C>ACA516354005SYN1c.1572G>T (p.Pro524=)
c.70+276G>T (n.70+276G>T)
Xg.47574412C>GCA516354006SYN1c.1572G>C (p.Pro524=)
c.70+276G>C (n.70+276G>C)
Xg.47574412C>TCA516354007SYN1c.1572G>A (p.Pro524=)
c.70+276G>A (n.70+276G>A)
 gnomAD v4
Xg.47574413G>ACA412823257SYN1c.1571C>T (p.Pro524Leu)
c.70+275C>T (n.70+275C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574413G>CCA412823269SYN1c.1571C>G (p.Pro524Arg)
c.70+275C>G (n.70+275C>G)
Xg.47574413G=CA2427971293SYN1c.1571C= (p.Pro524=)
c.70+275C= (n.70+275C=)
Xg.47574413G>TCA412823270SYN1c.1571C>A (p.Pro524Gln)
c.70+275C>A (n.70+275C>A)
 gnomAD v4
Xg.47574414G>ACA412823273SYN1c.1570C>T (p.Pro524Ser)
c.70+274C>T (n.70+274C>T)
 gnomAD v4
Xg.47574414G>CCA412823275SYN1c.1570C>G (p.Pro524Ala)
c.70+274C>G (n.70+274C>G)
Xg.47574414G>TCA412823277SYN1c.1570C>A (p.Pro524Thr)
c.70+274C>A (n.70+274C>A)
Xg.47574415C>ACA516354008SYN1c.1569G>T (p.Ala523=)
c.70+273G>T (n.70+273G>T)
 gnomAD v4
Xg.47574415C=CA2427971294SYN1c.1569G= (p.Ala523=)
c.70+273G= (n.70+273G=)
Xg.47574415C>GCA516354009SYN1c.1569G>C (p.Ala523=)
c.70+273G>C (n.70+273G>C)
 gnomAD v4
Xg.47574415C>TCA293844SYN1c.1569G>A (p.Ala523=)
c.70+273G>A (n.70+273G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574416G>ACA412823287SYN1c.1568C>T (p.Ala523Val)
c.70+272C>T (n.70+272C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574416G>CCA412823283SYN1c.1568C>G (p.Ala523Gly)
c.70+272C>G (n.70+272C>G)
Xg.47574416G=CA2427971295SYN1c.1568C= (p.Ala523=)
c.70+272C= (n.70+272C=)
Xg.47574416G>TCA412823285SYN1c.1568C>A (p.Ala523Glu)
c.70+272C>A (n.70+272C>A)
Xg.47574417C>ACA412823289SYN1c.1567G>T (p.Ala523Ser)
c.70+271G>T (n.70+271G>T)
 gnomAD v4
Xg.47574417C>GCA412823292SYN1c.1567G>C (p.Ala523Pro)
c.70+271G>C (n.70+271G>C)
Xg.47574417C>TCA412823294SYN1c.1567G>A (p.Ala523Thr)
c.70+271G>A (n.70+271G>A)
 gnomAD v4
Xg.47574418G>ACA516354010SYN1c.1566C>T (p.Ala522=)
c.70+270C>T (n.70+270C>T)
 gnomAD v4
Xg.47574418G>CCA516354011SYN1c.1566C>G (p.Ala522=)
c.70+270C>G (n.70+270C>G)
Xg.47574418G>TCA516354012SYN1c.1566C>A (p.Ala522=)
c.70+270C>A (n.70+270C>A)
Xg.47574419delCA2820775725SYN1c.1566del (p.Ala523ArgfsTer?)
c.70+270del (n.70+270del)
Xg.47574419G>ACA412823297SYN1c.1565C>T (p.Ala522Val)
c.70+269C>T (n.70+269C>T)
 gnomAD v4
Xg.47574419G>CCA412823299SYN1c.1565C>G (p.Ala522Gly)
c.70+269C>G (n.70+269C>G)
Xg.47574419G>TCA412823302SYN1c.1565C>A (p.Ala522Asp)
c.70+269C>A (n.70+269C>A)
Xg.47574420C>ACA412823309SYN1c.1564G>T (p.Ala522Ser)
c.70+268G>T (n.70+268G>T)
 gnomAD v4
Xg.47574420C>GCA412823312SYN1c.1564G>C (p.Ala522Pro)
c.70+268G>C (n.70+268G>C)
Xg.47574420C>TCA412823315SYN1c.1564G>A (p.Ala522Thr)
c.70+268G>A (n.70+268G>A)
 gnomAD v4
Xg.47574421C>ACA412823322SYN1c.1563G>T (p.Gln521His)
c.70+267G>T (n.70+267G>T)
Xg.47574421C>GCA412823323SYN1c.1563G>C (p.Gln521His)
c.70+267G>C (n.70+267G>C)
Xg.47574421C>TCA516354013SYN1c.1563G>A (p.Gln521=)
c.70+267G>A (n.70+267G>A)
Xg.47574422T>ACA412823327SYN1c.1562A>T (p.Gln521Leu)
c.70+266A>T (n.70+266A>T)
Xg.47574422T>CCA412823331SYN1c.1562A>G (p.Gln521Arg)
c.70+266A>G (n.70+266A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574422T>GCA412823326SYN1c.1562A>C (p.Gln521Pro)
c.70+266A>C (n.70+266A>C)
 gnomAD v4
Xg.47574422T=CA2427971296SYN1c.1562A= (p.Gln521=)
c.70+266A= (n.70+266A=)
Xg.47574423G>ACA412823333SYN1c.1561C>T (p.Gln521Ter)
c.70+265C>T (n.70+265C>T)
 gnomAD v4
Xg.47574423G>CCA412823335SYN1c.1561C>G (p.Gln521Glu)
c.70+265C>G (n.70+265C>G)
Xg.47574423G>TCA412823338SYN1c.1561C>A (p.Gln521Lys)
c.70+265C>A (n.70+265C>A)
Xg.47574424G>ACA516354014SYN1c.1560C>T (p.Ser520=)
c.70+264C>T (n.70+264C>T)
Xg.47574424G>CCA516354015SYN1c.1560C>G (p.Ser520=)
c.70+264C>G (n.70+264C>G)
Xg.47574424G>TCA516354016SYN1c.1560C>A (p.Ser520=)
c.70+264C>A (n.70+264C>A)
 gnomAD v4
Xg.47574425G>ACA10398349SYN1c.1559C>T (p.Ser520Phe)
c.70+263C>T (n.70+263C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574425G>CCA412823343SYN1c.1559C>G (p.Ser520Cys)
c.70+263C>G (n.70+263C>G)
Xg.47574425G=CA2427971297SYN1c.1559C= (p.Ser520=)
c.70+263C= (n.70+263C=)
Xg.47574425G>TCA412823345SYN1c.1559C>A (p.Ser520Tyr)
c.70+263C>A (n.70+263C>A)
 gnomAD v4
Xg.47574426A>CCA412823350SYN1c.1558T>G (p.Ser520Ala)
c.70+262T>G (n.70+262T>G)
Xg.47574426A>GCA412823353SYN1c.1558T>C (p.Ser520Pro)
c.70+262T>C (n.70+262T>C)
 gnomAD v4
Xg.47574426A>TCA412823355SYN1c.1558T>A (p.Ser520Thr)
c.70+262T>A (n.70+262T>A)
Xg.47574427C>ACA516354017SYN1c.1557G>T (p.Ala519=)
c.70+261G>T (n.70+261G>T)
 ClinVar dbSNP gnomAD v4
Xg.47574427C=CA2427971298SYN1c.1557G= (p.Ala519=)
c.70+261G= (n.70+261G=)
Xg.47574427C>GCA516354018SYN1c.1557G>C (p.Ala519=)
c.70+261G>C (n.70+261G>C)
Xg.47574427C>TCA329057336SYN1c.1557G>A (p.Ala519=)
c.70+261G>A (n.70+261G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574428G>ACA412823358SYN1c.1556C>T (p.Ala519Val)
c.70+260C>T (n.70+260C>T)
 ClinVar gnomAD v4
Xg.47574428G>CCA412823361SYN1c.1556C>G (p.Ala519Gly)
c.70+260C>G (n.70+260C>G)
Xg.47574428G>TCA412823363SYN1c.1556C>A (p.Ala519Glu)
c.70+260C>A (n.70+260C>A)
 gnomAD v4
Xg.47574429C>ACA412823370SYN1c.1555G>T (p.Ala519Ser)
c.70+259G>T (n.70+259G>T)
Xg.47574429C>GCA412823373SYN1c.1555G>C (p.Ala519Pro)
c.70+259G>C (n.70+259G>C)
Xg.47574429C>TCA412823366SYN1c.1555G>A (p.Ala519Thr)
c.70+259G>A (n.70+259G>A)
 gnomAD v4
Xg.47574430G>ACA516354019SYN1c.1554C>T (p.Pro518=)
c.70+258C>T (n.70+258C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574430G>CCA516354020SYN1c.1554C>G (p.Pro518=)
c.70+258C>G (n.70+258C>G)
Xg.47574430G=CA2427971299SYN1c.1554C= (p.Pro518=)
c.70+258C= (n.70+258C=)
Xg.47574430G>TCA516354021SYN1c.1554C>A (p.Pro518=)
c.70+258C>A (n.70+258C>A)
 gnomAD v4
Xg.47574431G>ACA412823375SYN1c.1553C>T (p.Pro518Leu)
c.70+257C>T (n.70+257C>T)
Xg.47574431G>CCA412823378SYN1c.1553C>G (p.Pro518Arg)
c.70+257C>G (n.70+257C>G)
Xg.47574431G>TCA412823380SYN1c.1553C>A (p.Pro518His)
c.70+257C>A (n.70+257C>A)
 gnomAD v4
Xg.47574432G>ACA412823382SYN1c.1552C>T (p.Pro518Ser)
c.70+256C>T (n.70+256C>T)
Xg.47574432G>CCA412823384SYN1c.1552C>G (p.Pro518Ala)
c.70+256C>G (n.70+256C>G)
 gnomAD v4
Xg.47574432G>TCA412823386SYN1c.1552C>A (p.Pro518Thr)
c.70+256C>A (n.70+256C>A)
Xg.47574433C>ACA412823387SYN1c.1551G>T (p.Gln517His)
c.70+255G>T (n.70+255G>T)
Xg.47574433C>GCA412823388SYN1c.1551G>C (p.Gln517His)
c.70+255G>C (n.70+255G>C)
Xg.47574433C>TCA516354022SYN1c.1551G>A (p.Gln517=)
c.70+255G>A (n.70+255G>A)
Xg.47574434T>ACA412823390SYN1c.1550A>T (p.Gln517Leu)
c.70+254A>T (n.70+254A>T)
Xg.47574434T>CCA412823395SYN1c.1550A>G (p.Gln517Arg)
c.70+254A>G (n.70+254A>G)
Xg.47574434T>GCA412823397SYN1c.1550A>C (p.Gln517Pro)
c.70+254A>C (n.70+254A>C)
Xg.47574435G>ACA412823398SYN1c.1549C>T (p.Gln517Ter)
c.70+253C>T (n.70+253C>T)
 gnomAD v4
Xg.47574435G>CCA412823400SYN1c.1549C>G (p.Gln517Glu)
c.70+253C>G (n.70+253C>G)
Xg.47574435G>TCA412823401SYN1c.1549C>A (p.Gln517Lys)
c.70+253C>A (n.70+253C>A)
 gnomAD v4
Xg.47574443_47574472delCA2820775726SYN1c.1520_1549del (p.Arg507_Gln516del)
c.70+224_70+253del (n.70+224_70+253del)
Xg.47574436C>ACA412823403SYN1c.1548G>T (p.Gln516His)
c.70+252G>T (n.70+252G>T)
 gnomAD v4
Xg.47574436C>GCA412823402SYN1c.1548G>C (p.Gln516His)
c.70+252G>C (n.70+252G>C)
 gnomAD v4
Xg.47574436C>TCA516354023SYN1c.1548G>A (p.Gln516=)
c.70+252G>A (n.70+252G>A)
 gnomAD v4
Xg.47574437T>ACA412823405SYN1c.1547A>T (p.Gln516Leu)
c.70+251A>T (n.70+251A>T)
Xg.47574437T>CCA412823408SYN1c.1547A>G (p.Gln516Arg)
c.70+251A>G (n.70+251A>G)
 gnomAD v4
Xg.47574437T>GCA412823407SYN1c.1547A>C (p.Gln516Pro)
c.70+251A>C (n.70+251A>C)
Xg.47574438G>ACA412823409SYN1c.1546C>T (p.Gln516Ter)
c.70+250C>T (n.70+250C>T)
Xg.47574438G>CCA412823412SYN1c.1546C>G (p.Gln516Glu)
c.70+250C>G (n.70+250C>G)
Xg.47574438G>TCA412823410SYN1c.1546C>A (p.Gln516Lys)
c.70+250C>A (n.70+250C>A)
 gnomAD v4
Xg.47574441delCA2693585221SYN1c.1546del (p.Gln516SerfsTer?)
c.70+250del (n.70+250del)
 gnomAD v4
Xg.47574439G>ACA516354024SYN1c.1545C>T (p.Pro515=)
c.70+249C>T (n.70+249C>T)
 gnomAD v4
Xg.47574439G>CCA516354025SYN1c.1545C>G (p.Pro515=)
c.70+249C>G (n.70+249C>G)
Xg.47574439G>TCA516354026SYN1c.1545C>A (p.Pro515=)
c.70+249C>A (n.70+249C>A)
Xg.47574440G>ACA412823413SYN1c.1544C>T (p.Pro515Leu)
c.70+248C>T (n.70+248C>T)
Xg.47574440G>CCA412823415SYN1c.1544C>G (p.Pro515Arg)
c.70+248C>G (n.70+248C>G)
Xg.47574440G>TCA412823414SYN1c.1544C>A (p.Pro515His)
c.70+248C>A (n.70+248C>A)
Xg.47574441G>ACA412823417SYN1c.1543C>T (p.Pro515Ser)
c.70+247C>T (n.70+247C>T)
 gnomAD v4
Xg.47574441G>CCA318961SYN1c.1543C>G (p.Pro515Ala)
c.70+247C>G (n.70+247C>G)
 ClinVar dbSNP
Xg.47574441G=CA2427971300SYN1c.1543C= (p.Pro515=)
c.70+247C= (n.70+247C=)
Xg.47574441G>TCA412823420SYN1c.1543C>A (p.Pro515Thr)
c.70+247C>A (n.70+247C>A)
Xg.47574442C>ACA516354029SYN1c.1542G>T (p.Ala514=)
c.70+246G>T (n.70+246G>T)
 gnomAD v4
Xg.47574442C=CA2427971301SYN1c.1542G= (p.Ala514=)
c.70+246G= (n.70+246G=)
Xg.47574442C>GCA516354028SYN1c.1542G>C (p.Ala514=)
c.70+246G>C (n.70+246G>C)
Xg.47574442C>TCA516354027SYN1c.1542G>A (p.Ala514=)
c.70+246G>A (n.70+246G>A)
 dbSNP gnomAD v4
Xg.47574443G>ACA412823421SYN1c.1541C>T (p.Ala514Val)
c.70+245C>T (n.70+245C>T)
 dbSNP gnomAD v4
Xg.47574443G>CCA412823422SYN1c.1541C>G (p.Ala514Gly)
c.70+245C>G (n.70+245C>G)
Xg.47574443G=CA2427971302SYN1c.1541C= (p.Ala514=)
c.70+245C= (n.70+245C=)
Xg.47574443G>TCA412823423SYN1c.1541C>A (p.Ala514Glu)
c.70+245C>A (n.70+245C>A)
 gnomAD v4
Xg.47574444C>ACA412823428SYN1c.1540G>T (p.Ala514Ser)
c.70+244G>T (n.70+244G>T)
Xg.47574444C>GCA412823426SYN1c.1540G>C (p.Ala514Pro)
c.70+244G>C (n.70+244G>C)
Xg.47574444C>TCA412823425SYN1c.1540G>A (p.Ala514Thr)
c.70+244G>A (n.70+244G>A)
 gnomAD v4
Xg.47574445T>ACA516354030SYN1c.1539A>T (p.Ser513=)
c.70+243A>T (n.70+243A>T)
Xg.47574445T>CCA516354031SYN1c.1539A>G (p.Ser513=)
c.70+243A>G (n.70+243A>G)
 gnomAD v4
Xg.47574445T>GCA516354032SYN1c.1539A>C (p.Ser513=)
c.70+243A>C (n.70+243A>C)
Xg.47574446G>ACA412823430SYN1c.1538C>T (p.Ser513Leu)
c.70+242C>T (n.70+242C>T)
 ClinVar gnomAD v4
Xg.47574446G>CCA412823432SYN1c.1538C>G (p.Ser513Ter)
c.70+242C>G (n.70+242C>G)
Xg.47574446G>TCA412823433SYN1c.1538C>A (p.Ser513Ter)
c.70+242C>A (n.70+242C>A)
Xg.47574447A>CCA412823435SYN1c.1537T>G (p.Ser513Ala)
c.70+241T>G (n.70+241T>G)
Xg.47574447A>GCA412823438SYN1c.1537T>C (p.Ser513Pro)
c.70+241T>C (n.70+241T>C)
Xg.47574447A>TCA412823439SYN1c.1537T>A (p.Ser513Thr)
c.70+241T>A (n.70+241T>A)
 gnomAD v4
Xg.47574448G>ACA516354036SYN1c.1536C>T (p.Thr512=)
c.70+240C>T (n.70+240C>T)
Xg.47574448G>CCA516354037SYN1c.1536C>G (p.Thr512=)
c.70+240C>G (n.70+240C>G)
Xg.47574448G>TCA516354038SYN1c.1536C>A (p.Thr512=)
c.70+240C>A (n.70+240C>A)
 gnomAD v4
Xg.47574449G>ACA412823441SYN1c.1535C>T (p.Thr512Ile)
c.70+239C>T (n.70+239C>T)
 gnomAD v4
Xg.47574449G>CCA412823444SYN1c.1535C>G (p.Thr512Ser)
c.70+239C>G (n.70+239C>G)
Xg.47574449G>TCA412823442SYN1c.1535C>A (p.Thr512Asn)
c.70+239C>A (n.70+239C>A)
 gnomAD v4
Xg.47574450T>ACA412823447SYN1c.1534A>T (p.Thr512Ser)
c.70+238A>T (n.70+238A>T)
Xg.47574450T>CCA412823448SYN1c.1534A>G (p.Thr512Ala)
c.70+238A>G (n.70+238A>G)
 gnomAD v4
Xg.47574450T>GCA412823451SYN1c.1534A>C (p.Thr512Pro)
c.70+238A>C (n.70+238A>C)
Xg.47574451G>ACA516354041SYN1c.1533C>T (p.Pro511=)
c.70+237C>T (n.70+237C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574451G>CCA516354042SYN1c.1533C>G (p.Pro511=)
c.70+237C>G (n.70+237C>G)
Xg.47574451G=CA2427971303SYN1c.1533C= (p.Pro511=)
c.70+237C= (n.70+237C=)
Xg.47574451G>TCA516354043SYN1c.1533C>A (p.Pro511=)
c.70+237C>A (n.70+237C>A)
 gnomAD v4
Xg.47574453delCA2693585222SYN1c.1533del (p.Thr512ProfsTer?)
c.70+237del (n.70+237del)
 gnomAD v4
Xg.47574452G>ACA412823456SYN1c.1532C>T (p.Pro511Leu)
c.70+236C>T (n.70+236C>T)
 gnomAD v4
Xg.47574452G>CCA412823458SYN1c.1532C>G (p.Pro511Arg)
c.70+236C>G (n.70+236C>G)
Xg.47574452G>TCA412823461SYN1c.1532C>A (p.Pro511His)
c.70+236C>A (n.70+236C>A)
 gnomAD v4
Xg.47574453G>ACA329057340SYN1c.1531C>T (p.Pro511Ser)
c.70+235C>T (n.70+235C>T)
 dbSNP gnomAD v4
Xg.47574453G>CCA412823465SYN1c.1531C>G (p.Pro511Ala)
c.70+235C>G (n.70+235C>G)
Xg.47574453G=CA2427971304SYN1c.1531C= (p.Pro511=)
c.70+235C= (n.70+235C=)
Xg.47574453G>TCA412823470SYN1c.1531C>A (p.Pro511Thr)
c.70+235C>A (n.70+235C>A)
 gnomAD v4
Xg.47574454A>CCA412823472SYN1c.1530T>G (p.Ser510Arg)
c.70+234T>G (n.70+234T>G)
Xg.47574454A>GCA516354045SYN1c.1530T>C (p.Ser510=)
c.70+234T>C (n.70+234T>C)
Xg.47574454A>TCA412823475SYN1c.1530T>A (p.Ser510Arg)
c.70+234T>A (n.70+234T>A)
Xg.47574455C>ACA412823477SYN1c.1529G>T (p.Ser510Ile)
c.70+233G>T (n.70+233G>T)
 gnomAD v4
Xg.47574455C>GCA412823483SYN1c.1529G>C (p.Ser510Thr)
c.70+233G>C (n.70+233G>C)
Xg.47574455C>TCA412823478SYN1c.1529G>A (p.Ser510Asn)
c.70+233G>A (n.70+233G>A)
Xg.47574456T>ACA412823485SYN1c.1528A>T (p.Ser510Cys)
c.70+232A>T (n.70+232A>T)
Xg.47574456T>CCA412823486SYN1c.1528A>G (p.Ser510Gly)
c.70+232A>G (n.70+232A>G)
 gnomAD v4
Xg.47574456T>GCA412823489SYN1c.1528A>C (p.Ser510Arg)
c.70+232A>C (n.70+232A>C)
Xg.47574457T>ACA516354050SYN1c.1527A>T (p.Pro509=)
c.70+231A>T (n.70+231A>T)
Xg.47574457T>CCA516354049SYN1c.1527A>G (p.Pro509=)
c.70+231A>G (n.70+231A>G)
 gnomAD v4
Xg.47574457T>GCA516354048SYN1c.1527A>C (p.Pro509=)
c.70+231A>C (n.70+231A>C)
Xg.47574458G>ACA412823492SYN1c.1526C>T (p.Pro509Leu)
c.70+230C>T (n.70+230C>T)
 gnomAD v4
Xg.47574458G>CCA412823499SYN1c.1526C>G (p.Pro509Arg)
c.70+230C>G (n.70+230C>G)
 COSMIC COSMIC
Xg.47574458G>TCA412823502SYN1c.1526C>A (p.Pro509Gln)
c.70+230C>A (n.70+230C>A)
 gnomAD v4
Xg.47574459delCA2693585223SYN1c.1526del (p.Pro509GlnfsTer?)
c.70+230del (n.70+230del)
 gnomAD v4
Xg.47574459G>ACA412823504SYN1c.1525C>T (p.Pro509Ser)
c.70+229C>T (n.70+229C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574459G>CCA412823507SYN1c.1525C>G (p.Pro509Ala)
c.70+229C>G (n.70+229C>G)
 gnomAD v4
Xg.47574459G=CA2427971305SYN1c.1525C= (p.Pro509=)
c.70+229C= (n.70+229C=)
Xg.47574459G>TCA412823508SYN1c.1525C>A (p.Pro509Thr)
c.70+229C>A (n.70+229C>A)
 gnomAD v4
Xg.47574460A>CCA516354056SYN1c.1524T>G (p.Leu508=)
c.70+228T>G (n.70+228T>G)
Xg.47574460A>GCA516354055SYN1c.1524T>C (p.Leu508=)
c.70+228T>C (n.70+228T>C)
 dbSNP gnomAD v4
Xg.47574460A>TCA516354054SYN1c.1524T>A (p.Leu508=)
c.70+228T>A (n.70+228T>A)
 gnomAD v4
Xg.47574461delCA2693585224SYN1c.1524del (p.Pro509GlnfsTer?)
c.70+228del (n.70+228del)
 gnomAD v4
Xg.47574461A>CCA412823511SYN1c.1523T>G (p.Leu508Arg)
c.70+227T>G (n.70+227T>G)
Xg.47574461A>GCA412823512SYN1c.1523T>C (p.Leu508Pro)
c.70+227T>C (n.70+227T>C)
 gnomAD v4
Xg.47574461A>TCA412823514SYN1c.1523T>A (p.Leu508His)
c.70+227T>A (n.70+227T>A)
 gnomAD v4
Xg.47574462G>ACA412823520SYN1c.1522C>T (p.Leu508Phe)
c.70+226C>T (n.70+226C>T)
Xg.47574462G>CCA412823517SYN1c.1522C>G (p.Leu508Val)
c.70+226C>G (n.70+226C>G)
Xg.47574462G>TCA412823519SYN1c.1522C>A (p.Leu508Ile)
c.70+226C>A (n.70+226C>A)
 gnomAD v4
Xg.47574472_47574564delCA2693585225SYN1c.1430_1522del (p.Gln477_Arg507del)
c.70+134_70+226del (n.70+134_70+226del)
 gnomAD v4
Xg.47574463G>ACA516354058SYN1c.1521C>T (p.Arg507=)
c.70+225C>T (n.70+225C>T)
 gnomAD v4
Xg.47574463G>CCA516354062SYN1c.1521C>G (p.Arg507=)
c.70+225C>G (n.70+225C>G)
 gnomAD v4
Xg.47574463G>TCA516354059SYN1c.1521C>A (p.Arg507=)
c.70+225C>A (n.70+225C>A)
 gnomAD v4
Xg.47574464C>ACA412823524SYN1c.1520G>T (p.Arg507Leu)
c.70+224G>T (n.70+224G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574464C=CA2427971306SYN1c.1520G= (p.Arg507=)
c.70+224G= (n.70+224G=)
Xg.47574464C>GCA412823525SYN1c.1520G>C (p.Arg507Pro)
c.70+224G>C (n.70+224G>C)
Xg.47574464C>TCA412823528SYN1c.1520G>A (p.Arg507His)
c.70+224G>A (n.70+224G>A)
 gnomAD v4
Xg.47574465G>ACA412823530SYN1c.1519C>T (p.Arg507Cys)
c.70+223C>T (n.70+223C>T)
 gnomAD v4
Xg.47574465G>CCA412823531SYN1c.1519C>G (p.Arg507Gly)
c.70+223C>G (n.70+223C>G)
Xg.47574465G=CA2427971307SYN1c.1519C= (p.Arg507=)
c.70+223C= (n.70+223C=)
Xg.47574465G>TCA412823532SYN1c.1519C>A (p.Arg507Ser)
c.70+223C>A (n.70+223C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574466C>ACA412823534SYN1c.1518G>T (p.Gln506His)
c.70+222G>T (n.70+222G>T)
 gnomAD v4
Xg.47574466C>GCA412823536SYN1c.1518G>C (p.Gln506His)
c.70+222G>C (n.70+222G>C)
Xg.47574466C>TCA516354067SYN1c.1518G>A (p.Gln506=)
c.70+222G>A (n.70+222G>A)
Xg.47574467T>ACA412823538SYN1c.1517A>T (p.Gln506Leu)
c.70+221A>T (n.70+221A>T)
Xg.47574467T>CCA412823540SYN1c.1517A>G (p.Gln506Arg)
c.70+221A>G (n.70+221A>G)
Xg.47574467T>GCA412823543SYN1c.1517A>C (p.Gln506Pro)
c.70+221A>C (n.70+221A>C)
Xg.47574468G>ACA412823548SYN1c.1516C>T (p.Gln506Ter)
c.70+220C>T (n.70+220C>T)
 ClinVar dbSNP
Xg.47574468G>CCA412823546SYN1c.1516C>G (p.Gln506Glu)
c.70+220C>G (n.70+220C>G)
Xg.47574468G=CA2427971308SYN1c.1516C= (p.Gln506=)
c.70+220C= (n.70+220C=)
Xg.47574468G>TCA412823544SYN1c.1516C>A (p.Gln506Lys)
c.70+220C>A (n.70+220C>A)
 gnomAD v4
Xg.47574471delCA2820775727SYN1c.1516del (p.Gln506SerfsTer?)
c.70+220del (n.70+220del)
Xg.47574470_47574471delCA2579596681SYN1c.1515_1516del (p.Gln506AlafsTer?)
c.70+219_70+220del (n.70+219_70+220del)
Xg.47574469G>ACA516354070SYN1c.1515C>T (p.Pro505=)
c.70+219C>T (n.70+219C>T)
Xg.47574469G>CCA516354071SYN1c.1515C>G (p.Pro505=)
c.70+219C>G (n.70+219C>G)
Xg.47574469G>TCA516354072SYN1c.1515C>A (p.Pro505=)
c.70+219C>A (n.70+219C>A)
 gnomAD v4
Xg.47574470G>ACA412823555SYN1c.1514C>T (p.Pro505Leu)
c.70+218C>T (n.70+218C>T)
 gnomAD v4
Xg.47574470G>CCA412823551SYN1c.1514C>G (p.Pro505Arg)
c.70+218C>G (n.70+218C>G)
Xg.47574470G>TCA412823552SYN1c.1514C>A (p.Pro505His)
c.70+218C>A (n.70+218C>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574471G>ACA412823559SYN1c.1513C>T (p.Pro505Ser)
c.70+217C>T (n.70+217C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574471G>CCA412823560SYN1c.1513C>G (p.Pro505Ala)
c.70+217C>G (n.70+217C>G)
Xg.47574471G=CA2427971309SYN1c.1513C= (p.Pro505=)
c.70+217C= (n.70+217C=)
Xg.47574471G>TCA412823561SYN1c.1513C>A (p.Pro505Thr)
c.70+217C>A (n.70+217C>A)
Xg.47574472C>ACA516354074SYN1c.1512G>T (p.Leu504=)
c.70+216G>T (n.70+216G>T)
 gnomAD v4
Xg.47574472C>GCA516354075SYN1c.1512G>C (p.Leu504=)
c.70+216G>C (n.70+216G>C)
Xg.47574472C>TCA516354076SYN1c.1512G>A (p.Leu504=)
c.70+216G>A (n.70+216G>A)
 gnomAD v4
Xg.47574473A>CCA412823562SYN1c.1511T>G (p.Leu504Arg)
c.70+215T>G (n.70+215T>G)
Xg.47574473A>GCA412823563SYN1c.1511T>C (p.Leu504Pro)
c.70+215T>C (n.70+215T>C)
 gnomAD v4
Xg.47574473A>TCA412823564SYN1c.1511T>A (p.Leu504Gln)
c.70+215T>A (n.70+215T>A)
Xg.47574473_47574474delinsAGCA2427971310SYN1c.1510_1511delinsCT (p.Leu504=)
c.70+214_70+215delinsCT (n.70+214_70+215delinsCT)
Xg.47574474G>ACA516354079SYN1c.1510C>T (p.Leu504=)
c.70+214C>T (n.70+214C>T)
 gnomAD v4 COSMIC COSMIC
Xg.47574474G>CCA412823565SYN1c.1510C>G (p.Leu504Val)
c.70+214C>G (n.70+214C>G)
Xg.47574474G>TCA412823566SYN1c.1510C>A (p.Leu504Met)
c.70+214C>A (n.70+214C>A)
 gnomAD v4
Xg.47574478delCA641900908SYN1c.1510del (p.Leu504CysfsTer?)
c.70+214del (n.70+214del)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574475G>ACA516354081SYN1c.1509C>T (p.Pro503=)
c.70+213C>T (n.70+213C>T)
 gnomAD v4
Xg.47574475G>CCA516354082SYN1c.1509C>G (p.Pro503=)
c.70+213C>G (n.70+213C>G)
Xg.47574475G>TCA516354083SYN1c.1509C>A (p.Pro503=)
c.70+213C>A (n.70+213C>A)
 gnomAD v4
Xg.47574476G>ACA412823567SYN1c.1508C>T (p.Pro503Leu)
c.70+212C>T (n.70+212C>T)
Xg.47574476G>CCA412823570SYN1c.1508C>G (p.Pro503Arg)
c.70+212C>G (n.70+212C>G)
Xg.47574476G>TCA412823571SYN1c.1508C>A (p.Pro503His)
c.70+212C>A (n.70+212C>A)
 gnomAD v4
Xg.47574477G>ACA412823581SYN1c.1507C>T (p.Pro503Ser)
c.70+211C>T (n.70+211C>T)
 gnomAD v4
Xg.47574477G>CCA412823576SYN1c.1507C>G (p.Pro503Ala)
c.70+211C>G (n.70+211C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574477G>TCA412823574SYN1c.1507C>A (p.Pro503Thr)
c.70+211C>A (n.70+211C>A)
 gnomAD v4
Xg.47574478G>ACA516354085SYN1c.1506C>T (p.Ser502=)
c.70+210C>T (n.70+210C>T)
 gnomAD v4
Xg.47574478G>CCA412823583SYN1c.1506C>G (p.Ser502Arg)
c.70+210C>G (n.70+210C>G)
Xg.47574478G>TCA412823584SYN1c.1506C>A (p.Ser502Arg)
c.70+210C>A (n.70+210C>A)
 gnomAD v4
Xg.47574479C>ACA412823586SYN1c.1505G>T (p.Ser502Ile)
c.70+209G>T (n.70+209G>T)
Xg.47574479C>GCA412823587SYN1c.1505G>C (p.Ser502Thr)
c.70+209G>C (n.70+209G>C)
 gnomAD v4
Xg.47574479C>TCA412823590SYN1c.1505G>A (p.Ser502Asn)
c.70+209G>A (n.70+209G>A)
 gnomAD v4
Xg.47574480T>ACA412823591SYN1c.1504A>T (p.Ser502Cys)
c.70+208A>T (n.70+208A>T)
 ClinVar gnomAD v4
Xg.47574480T>CCA412823594SYN1c.1504A>G (p.Ser502Gly)
c.70+208A>G (n.70+208A>G)
Xg.47574480T>GCA412823595SYN1c.1504A>C (p.Ser502Arg)
c.70+208A>C (n.70+208A>C)
Xg.47574481G>ACA515991032SYN1c.1503C>T (p.Gly501=)
c.70+207C>T (n.70+207C>T)
 gnomAD v4
Xg.47574481G>CCA515991035SYN1c.1503C>G (p.Gly501=)
c.70+207C>G (n.70+207C>G)
Xg.47574481G>TCA515991034SYN1c.1503C>A (p.Gly501=)
c.70+207C>A (n.70+207C>A)
 gnomAD v4
Xg.47574482C>ACA412823597SYN1c.1502G>T (p.Gly501Val)
c.70+206G>T (n.70+206G>T)
 gnomAD v4
Xg.47574482C>GCA412823598SYN1c.1502G>C (p.Gly501Ala)
c.70+206G>C (n.70+206G>C)
Xg.47574482C>TCA412823599SYN1c.1502G>A (p.Gly501Asp)
c.70+206G>A (n.70+206G>A)
 gnomAD v4
Xg.47574483C>ACA412823601SYN1c.1501G>T (p.Gly501Cys)
c.70+205G>T (n.70+205G>T)
Xg.47574483C>GCA412823602SYN1c.1501G>C (p.Gly501Arg)
c.70+205G>C (n.70+205G>C)
Xg.47574483C>TCA412823605SYN1c.1501G>A (p.Gly501Ser)
c.70+205G>A (n.70+205G>A)
 gnomAD v4
Xg.47574484A>CCA515991036SYN1c.1500T>G (p.Ala500=)
c.70+204T>G (n.70+204T>G)
Xg.47574484A>GCA515991037SYN1c.1500T>C (p.Ala500=)
c.70+204T>C (n.70+204T>C)
 gnomAD v4
Xg.47574484A>TCA515991038SYN1c.1500T>A (p.Ala500=)
c.70+204T>A (n.70+204T>A)
Xg.47574485G>ACA412823610SYN1c.1499C>T (p.Ala500Val)
c.70+203C>T (n.70+203C>T)
 dbSNP gnomAD v4
Xg.47574485G>CCA412823612SYN1c.1499C>G (p.Ala500Gly)
c.70+203C>G (n.70+203C>G)
Xg.47574485G=CA2427971311SYN1c.1499C= (p.Ala500=)
c.70+203C= (n.70+203C=)
Xg.47574485G>TCA412823608SYN1c.1499C>A (p.Ala500Asp)
c.70+203C>A (n.70+203C>A)
 gnomAD v4
Xg.47574486C>ACA412823613SYN1c.1498G>T (p.Ala500Ser)
c.70+202G>T (n.70+202G>T)
 gnomAD v4
Xg.47574486C>GCA412823615SYN1c.1498G>C (p.Ala500Pro)
c.70+202G>C (n.70+202G>C)
 gnomAD v4
Xg.47574486C>TCA412823617SYN1c.1498G>A (p.Ala500Thr)
c.70+202G>A (n.70+202G>A)
Xg.47574487T>ACA515991040SYN1c.1497A>T (p.Pro499=)
c.70+201A>T (n.70+201A>T)
 gnomAD v4
Xg.47574487T>CCA515991041SYN1c.1497A>G (p.Pro499=)
c.70+201A>G (n.70+201A>G)
 gnomAD v4
Xg.47574487T>GCA515991042SYN1c.1497A>C (p.Pro499=)
c.70+201A>C (n.70+201A>C)
Xg.47574488G>ACA412823619SYN1c.1496C>T (p.Pro499Leu)
c.70+200C>T (n.70+200C>T)
Xg.47574488G>CCA412823622SYN1c.1496C>G (p.Pro499Arg)
c.70+200C>G (n.70+200C>G)
Xg.47574488G>TCA412823625SYN1c.1496C>A (p.Pro499Gln)
c.70+200C>A (n.70+200C>A)
 gnomAD v4
Xg.47574489G>ACA412823628SYN1c.1495C>T (p.Pro499Ser)
c.70+199C>T (n.70+199C>T)
Xg.47574489G>CCA412823630SYN1c.1495C>G (p.Pro499Ala)
c.70+199C>G (n.70+199C>G)
Xg.47574489G>TCA412823632SYN1c.1495C>A (p.Pro499Thr)
c.70+199C>A (n.70+199C>A)
 gnomAD v4
Xg.47574490G>ACA515991044SYN1c.1494C>T (p.Pro498=)
c.70+198C>T (n.70+198C>T)
 gnomAD v4
Xg.47574490G>CCA329057349SYN1c.1494C>G (p.Pro498=)
c.70+198C>G (n.70+198C>G)
 dbSNP
Xg.47574490G=CA2427971312SYN1c.1494C= (p.Pro498=)
c.70+198C= (n.70+198C=)
Xg.47574490G>TCA515991043SYN1c.1494C>A (p.Pro498=)
c.70+198C>A (n.70+198C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574491G>ACA412823634SYN1c.1493C>T (p.Pro498Leu)
c.70+197C>T (n.70+197C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574491G>CCA412823636SYN1c.1493C>G (p.Pro498Arg)
c.70+197C>G (n.70+197C>G)
Xg.47574491G=CA2427971313SYN1c.1493C= (p.Pro498=)
c.70+197C= (n.70+197C=)
Xg.47574491G>TCA412823638SYN1c.1493C>A (p.Pro498His)
c.70+197C>A (n.70+197C>A)
 gnomAD v4
Xg.47574492G>ACA412823646SYN1c.1492C>T (p.Pro498Ser)
c.70+196C>T (n.70+196C>T)
 gnomAD v4
Xg.47574492G>CCA412823641SYN1c.1492C>G (p.Pro498Ala)
c.70+196C>G (n.70+196C>G)
Xg.47574492G=CA2427971314SYN1c.1492C= (p.Pro498=)
c.70+196C= (n.70+196C=)
Xg.47574492G>TCA412823643SYN1c.1492C>A (p.Pro498Thr)
c.70+196C>A (n.70+196C>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574493T>ACA515991045SYN1c.1491A>T (p.Gly497=)
c.70+195A>T (n.70+195A>T)
Xg.47574493T>CCA515991046SYN1c.1491A>G (p.Gly497=)
c.70+195A>G (n.70+195A>G)
 gnomAD v4
Xg.47574493T>GCA515991047SYN1c.1491A>C (p.Gly497=)
c.70+195A>C (n.70+195A>C)
Xg.47574494C>ACA412823651SYN1c.1490G>T (p.Gly497Val)
c.70+194G>T (n.70+194G>T)
 gnomAD v4
Xg.47574494C>GCA412823653SYN1c.1490G>C (p.Gly497Ala)
c.70+194G>C (n.70+194G>C)
Xg.47574494C>TCA412823658SYN1c.1490G>A (p.Gly497Glu)
c.70+194G>A (n.70+194G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574495delCA2693585226SYN1c.1490del (p.Gly497AspfsTer?)
c.70+194del (n.70+194del)
 gnomAD v4
Xg.47574495C>ACA412823662SYN1c.1489G>T (p.Gly497Ter)
c.70+193G>T (n.70+193G>T)
 gnomAD v4
Xg.47574495C>GCA412823664SYN1c.1489G>C (p.Gly497Arg)
c.70+193G>C (n.70+193G>C)
Xg.47574495C>TCA412823667SYN1c.1489G>A (p.Gly497Arg)
c.70+193G>A (n.70+193G>A)
Xg.47574496A>CCA515991048SYN1c.1488T>G (p.Leu496=)
c.70+192T>G (n.70+192T>G)
Xg.47574496A>GCA515991049SYN1c.1488T>C (p.Leu496=)
c.70+192T>C (n.70+192T>C)
 gnomAD v4
Xg.47574496A>TCA515991050SYN1c.1488T>A (p.Leu496=)
c.70+192T>A (n.70+192T>A)
Xg.47574497A>CCA412823670SYN1c.1487T>G (p.Leu496Arg)
c.70+191T>G (n.70+191T>G)
Xg.47574497A>GCA412823674SYN1c.1487T>C (p.Leu496Pro)
c.70+191T>C (n.70+191T>C)
 gnomAD v4
Xg.47574497A>TCA412823676SYN1c.1487T>A (p.Leu496His)
c.70+191T>A (n.70+191T>A)
Xg.47574498G>ACA412823681SYN1c.1486C>T (p.Leu496Phe)
c.70+190C>T (n.70+190C>T)
Xg.47574498G>CCA412823684SYN1c.1486C>G (p.Leu496Val)
c.70+190C>G (n.70+190C>G)
Xg.47574498G>TCA412823686SYN1c.1486C>A (p.Leu496Ile)
c.70+190C>A (n.70+190C>A)
 gnomAD v4

Number of alleles fetched