Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574361_47574444delCA2693585170SYN1c.1545_1628del (p.Gln516_Pro543del)
c.70+249_70+332del (n.70+249_70+332del)
 gnomAD v4
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
Xg.47574499G>ACA515991052SYN1c.1485C>T (p.Gly495=)
c.70+189C>T (n.70+189C>T)
Xg.47574499G>CCA515991053SYN1c.1485C>G (p.Gly495=)
c.70+189C>G (n.70+189C>G)
Xg.47574499G>TCA515991054SYN1c.1485C>A (p.Gly495=)
c.70+189C>A (n.70+189C>A)
 gnomAD v4
Xg.47574500C>ACA412823693SYN1c.1484G>T (p.Gly495Val)
c.70+188G>T (n.70+188G>T)
 gnomAD v4
Xg.47574500C>GCA412823698SYN1c.1484G>C (p.Gly495Ala)
c.70+188G>C (n.70+188G>C)
 gnomAD v4
Xg.47574500C>TCA412823691SYN1c.1484G>A (p.Gly495Asp)
c.70+188G>A (n.70+188G>A)
Xg.47574501C>ACA412823701SYN1c.1483G>T (p.Gly495Cys)
c.70+187G>T (n.70+187G>T)
 gnomAD v4
Xg.47574501C>GCA412823706SYN1c.1483G>C (p.Gly495Arg)
c.70+187G>C (n.70+187G>C)
Xg.47574501C>TCA412823702SYN1c.1483G>A (p.Gly495Ser)
c.70+187G>A (n.70+187G>A)
 ClinVar gnomAD v4
Xg.47574502T>ACA515991055SYN1c.1482A>T (p.Ser494=)
c.70+186A>T (n.70+186A>T)
 gnomAD v4
Xg.47574502T>CCA515991056SYN1c.1482A>G (p.Ser494=)
c.70+186A>G (n.70+186A>G)
 gnomAD v4
Xg.47574502T>GCA515991058SYN1c.1482A>C (p.Ser494=)
c.70+186A>C (n.70+186A>C)
Xg.47574503G>ACA329057383SYN1c.1481C>T (p.Ser494Leu)
c.70+185C>T (n.70+185C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574503G>CCA412823716SYN1c.1481C>G (p.Ser494Ter)
c.70+185C>G (n.70+185C>G)
Xg.47574503G=CA2427971315SYN1c.1481C= (p.Ser494=)
c.70+185C= (n.70+185C=)
Xg.47574503G>TCA412823712SYN1c.1481C>A (p.Ser494Ter)
c.70+185C>A (n.70+185C>A)
 dbSNP gnomAD v2
Xg.47574504A>CCA412823720SYN1c.1480T>G (p.Ser494Ala)
c.70+184T>G (n.70+184T>G)
Xg.47574504A>GCA412823721SYN1c.1480T>C (p.Ser494Pro)
c.70+184T>C (n.70+184T>C)
Xg.47574504A>TCA412823725SYN1c.1480T>A (p.Ser494Thr)
c.70+184T>A (n.70+184T>A)
Xg.47574506delCA2693585227SYN1c.1480del (p.Ser494GlnfsTer?)
c.70+184del (n.70+184del)
 gnomAD v4
Xg.47574505A>CCA515991064SYN1c.1479T>G (p.Leu493=)
c.70+183T>G (n.70+183T>G)
Xg.47574505A>GCA515991065SYN1c.1479T>C (p.Leu493=)
c.70+183T>C (n.70+183T>C)
Xg.47574505A>TCA515991066SYN1c.1479T>A (p.Leu493=)
c.70+183T>A (n.70+183T>A)
Xg.47574506A>CCA412823729SYN1c.1478T>G (p.Leu493Arg)
c.70+182T>G (n.70+182T>G)
Xg.47574506A>GCA412823730SYN1c.1478T>C (p.Leu493Pro)
c.70+182T>C (n.70+182T>C)
 gnomAD v4
Xg.47574506A>TCA412823732SYN1c.1478T>A (p.Leu493His)
c.70+182T>A (n.70+182T>A)
 gnomAD v4
Xg.47574507G>ACA412823734SYN1c.1477C>T (p.Leu493Phe)
c.70+181C>T (n.70+181C>T)
Xg.47574507G>CCA412823736SYN1c.1477C>G (p.Leu493Val)
c.70+181C>G (n.70+181C>G)
Xg.47574507G>TCA412823738SYN1c.1477C>A (p.Leu493Ile)
c.70+181C>A (n.70+181C>A)
Xg.47574508G>ACA515991071SYN1c.1476C>T (p.His492=)
c.70+180C>T (n.70+180C>T)
 gnomAD v4
Xg.47574508G>CCA412823742SYN1c.1476C>G (p.His492Gln)
c.70+180C>G (n.70+180C>G)
Xg.47574508G>TCA412823744SYN1c.1476C>A (p.His492Gln)
c.70+180C>A (n.70+180C>A)
Xg.47574508_47574511delinsGTGCCA2427971316SYN1c.1473_1476delinsGCAC (p.Gln491=)
c.70+177_70+180delinsGCAC (n.70+177_70+180delinsGCAC)
Xg.47574509T>ACA412823767SYN1c.1475A>T (p.His492Leu)
c.70+179A>T (n.70+179A>T)
Xg.47574509T>CCA412823764SYN1c.1475A>G (p.His492Arg)
c.70+179A>G (n.70+179A>G)
Xg.47574509T>GCA412823748SYN1c.1475A>C (p.His492Pro)
c.70+179A>C (n.70+179A>C)
 dbSNP
Xg.47574509T=CA2427971317SYN1c.1475A= (p.His492=)
c.70+179A= (n.70+179A=)
Xg.47574514_47574516delCA318976SYN1c.1473_1475del (p.Gln491del)
c.70+177_70+179del (n.70+177_70+179del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574510delCA2579596682SYN1c.1474del (p.His492ThrfsTer?)
c.70+178del (n.70+178del)
Xg.47574510G>ACA412823778SYN1c.1474C>T (p.His492Tyr)
c.70+178C>T (n.70+178C>T)
 gnomAD v4
Xg.47574510G>CCA412823782SYN1c.1474C>G (p.His492Asp)
c.70+178C>G (n.70+178C>G)
 gnomAD v4
Xg.47574510G>TCA412823786SYN1c.1474C>A (p.His492Asn)
c.70+178C>A (n.70+178C>A)
 gnomAD v4
Xg.47574511C>ACA412823789SYN1c.1473G>T (p.Gln491His)
c.70+177G>T (n.70+177G>T)
 gnomAD v4
Xg.47574511C=CA2427971318SYN1c.1473G= (p.Gln491=)
c.70+177G= (n.70+177G=)
Xg.47574511C>GCA412823793SYN1c.1473G>C (p.Gln491His)
c.70+177G>C (n.70+177G>C)
 gnomAD v4
Xg.47574511C>TCA515991077SYN1c.1473G>A (p.Gln491=)
c.70+177G>A (n.70+177G>A)
 dbSNP gnomAD v4
Xg.47574511_47574512insACA2695233456SYN1c.1472_1473insT (p.Gln491HisfsTer?)
c.70+176_70+177insT (n.70+176_70+177insT)
Xg.47574512T>ACA412823796SYN1c.1472A>T (p.Gln491Leu)
c.70+176A>T (n.70+176A>T)
Xg.47574512T>CCA412823798SYN1c.1472A>G (p.Gln491Arg)
c.70+176A>G (n.70+176A>G)
 gnomAD v4
Xg.47574512T>GCA412823801SYN1c.1472A>C (p.Gln491Pro)
c.70+176A>C (n.70+176A>C)
Xg.47574513delCA2499226738SYN1c.1471del (p.Gln491SerfsTer?)
c.70+175del (n.70+175del)
 ClinVar dbSNP
Xg.47574513G>ACA412823805SYN1c.1471C>T (p.Gln491Ter)
c.70+175C>T (n.70+175C>T)
 gnomAD v4
Xg.47574513G>CCA412823809SYN1c.1471C>G (p.Gln491Glu)
c.70+175C>G (n.70+175C>G)
 gnomAD v4
Xg.47574513G>TCA412823810SYN1c.1471C>A (p.Gln491Lys)
c.70+175C>A (n.70+175C>A)
 gnomAD v4
Xg.47574514C>ACA412823815SYN1c.1470G>T (p.Gln490His)
c.70+174G>T (n.70+174G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574514C=CA2427971319SYN1c.1470G= (p.Gln490=)
c.70+174G= (n.70+174G=)
Xg.47574514C>GCA412823817SYN1c.1470G>C (p.Gln490His)
c.70+174G>C (n.70+174G>C)
Xg.47574514C>TCA515991080SYN1c.1470G>A (p.Gln490=)
c.70+174G>A (n.70+174G>A)
 gnomAD v4
Xg.47574515T>ACA412823819SYN1c.1469A>T (p.Gln490Leu)
c.70+173A>T (n.70+173A>T)
Xg.47574515T>CCA412823823SYN1c.1469A>G (p.Gln490Arg)
c.70+173A>G (n.70+173A>G)
 gnomAD v4
Xg.47574515T>GCA412823824SYN1c.1469A>C (p.Gln490Pro)
c.70+173A>C (n.70+173A>C)
Xg.47574516G>ACA412823827SYN1c.1468C>T (p.Gln490Ter)
c.70+172C>T (n.70+172C>T)
 gnomAD v4
Xg.47574516G>CCA412823830SYN1c.1468C>G (p.Gln490Glu)
c.70+172C>G (n.70+172C>G)
Xg.47574516G>TCA412823833SYN1c.1468C>A (p.Gln490Lys)
c.70+172C>A (n.70+172C>A)
 gnomAD v4
Xg.47574517G>ACA515991081SYN1c.1467C>T (p.Gly489=)
c.70+171C>T (n.70+171C>T)
Xg.47574517G>CCA515991082SYN1c.1467C>G (p.Gly489=)
c.70+171C>G (n.70+171C>G)
Xg.47574517G>TCA515991083SYN1c.1467C>A (p.Gly489=)
c.70+171C>A (n.70+171C>A)
 gnomAD v4
Xg.47574518C>ACA412823835SYN1c.1466G>T (p.Gly489Val)
c.70+170G>T (n.70+170G>T)
 gnomAD v4
Xg.47574518C=CA2427971320SYN1c.1466G= (p.Gly489=)
c.70+170G= (n.70+170G=)
Xg.47574518C>GCA329057392SYN1c.1466G>C (p.Gly489Ala)
c.70+170G>C (n.70+170G>C)
 dbSNP gnomAD v4
Xg.47574518C>TCA412823837SYN1c.1466G>A (p.Gly489Asp)
c.70+170G>A (n.70+170G>A)
Xg.47574520delCA2693585228SYN1c.1466del (p.Gly489AlafsTer?)
c.70+170del (n.70+170del)
 gnomAD v4
Xg.47574519C>ACA412823839SYN1c.1465G>T (p.Gly489Cys)
c.70+169G>T (n.70+169G>T)
Xg.47574519C>GCA412823841SYN1c.1465G>C (p.Gly489Arg)
c.70+169G>C (n.70+169G>C)
Xg.47574519C>TCA412823844SYN1c.1465G>A (p.Gly489Ser)
c.70+169G>A (n.70+169G>A)
Xg.47574520C>ACA412823849SYN1c.1464G>T (p.Gln488His)
c.70+168G>T (n.70+168G>T)
Xg.47574520C=CA2427971321SYN1c.1464G= (p.Gln488=)
c.70+168G= (n.70+168G=)
Xg.47574520C>GCA412823847SYN1c.1464G>C (p.Gln488His)
c.70+168G>C (n.70+168G>C)
Xg.47574520C>TCA515991088SYN1c.1464G>A (p.Gln488=)
c.70+168G>A (n.70+168G>A)
 dbSNP
Xg.47574521T>ACA412823853SYN1c.1463A>T (p.Gln488Leu)
c.70+167A>T (n.70+167A>T)
Xg.47574521T>CCA412823857SYN1c.1463A>G (p.Gln488Arg)
c.70+167A>G (n.70+167A>G)
 gnomAD v4
Xg.47574521T>GCA412823860SYN1c.1463A>C (p.Gln488Pro)
c.70+167A>C (n.70+167A>C)
 gnomAD v4
Xg.47574522G>ACA412823864SYN1c.1462C>T (p.Gln488Ter)
c.70+166C>T (n.70+166C>T)
 gnomAD v4
Xg.47574522G>CCA412823869SYN1c.1462C>G (p.Gln488Glu)
c.70+166C>G (n.70+166C>G)
Xg.47574522G>TCA412823871SYN1c.1462C>A (p.Gln488Lys)
c.70+166C>A (n.70+166C>A)
 gnomAD v4
Xg.47574527_47574532delCA2693585229SYN1c.1457_1462del (p.Pro486_Pro487del)
c.70+161_70+166del (n.70+161_70+166del)
 gnomAD v4
Xg.47574523C>ACA515991092SYN1c.1461G>T (p.Pro487=)
c.70+165G>T (n.70+165G>T)
 gnomAD v4
Xg.47574523C>GCA515991093SYN1c.1461G>C (p.Pro487=)
c.70+165G>C (n.70+165G>C)
Xg.47574523C>TCA515991094SYN1c.1461G>A (p.Pro487=)
c.70+165G>A (n.70+165G>A)
 gnomAD v4
Xg.47574524G>ACA412823874SYN1c.1460C>T (p.Pro487Leu)
c.70+164C>T (n.70+164C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574524G>CCA412823877SYN1c.1460C>G (p.Pro487Arg)
c.70+164C>G (n.70+164C>G)
Xg.47574524G>TCA412823881SYN1c.1460C>A (p.Pro487Gln)
c.70+164C>A (n.70+164C>A)
Xg.47574528dupCA2693585231SYN1c.1460dup (p.Gln488AlafsTer?)
c.70+164dup (n.70+164dup)
 gnomAD v4
Xg.47574528delCA2693585230SYN1c.1460del (p.Pro487ArgfsTer?)
c.70+164del (n.70+164del)
 gnomAD v4
Xg.47574525G>ACA412823886SYN1c.1459C>T (p.Pro487Ser)
c.70+163C>T (n.70+163C>T)
 gnomAD v4
Xg.47574525G>CCA412823888SYN1c.1459C>G (p.Pro487Ala)
c.70+163C>G (n.70+163C>G)
 gnomAD v4
Xg.47574525G>TCA412823892SYN1c.1459C>A (p.Pro487Thr)
c.70+163C>A (n.70+163C>A)
 gnomAD v4
Xg.47574526G>ACA515991097SYN1c.1458C>T (p.Pro486=)
c.70+162C>T (n.70+162C>T)
Xg.47574526G>CCA515991098SYN1c.1458C>G (p.Pro486=)
c.70+162C>G (n.70+162C>G)
Xg.47574526G>TCA515991099SYN1c.1458C>A (p.Pro486=)
c.70+162C>A (n.70+162C>A)
 gnomAD v4
Xg.47574527G>ACA412823900SYN1c.1457C>T (p.Pro486Leu)
c.70+161C>T (n.70+161C>T)
Xg.47574527G>CCA412823898SYN1c.1457C>G (p.Pro486Arg)
c.70+161C>G (n.70+161C>G)
Xg.47574527G>TCA412823895SYN1c.1457C>A (p.Pro486His)
c.70+161C>A (n.70+161C>A)
 gnomAD v4

Number of alleles fetched