Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574351_47574423del | CA2820775724 | SYN1 | c.1564_1636del (p.Ala522ProfsTer?) c.70+268_70+340del (n.70+268_70+340del) | |
X | g.47574361_47574444del | CA2693585170 | SYN1 | c.1545_1628del (p.Gln516_Pro543del) c.70+249_70+332del (n.70+249_70+332del) | gnomAD v4 |
X | g.47574411G>A | CA412823249 | SYN1 | c.1573C>T (p.Pro525Ser) c.70+277C>T (n.70+277C>T) | gnomAD v4 |
X | g.47574411G>C | CA412823251 | SYN1 | c.1573C>G (p.Pro525Ala) c.70+277C>G (n.70+277C>G) | |
X | g.47574411G>T | CA412823253 | SYN1 | c.1573C>A (p.Pro525Thr) c.70+277C>A (n.70+277C>A) | gnomAD v4 |
X | g.47574412C>A | CA516354005 | SYN1 | c.1572G>T (p.Pro524=) c.70+276G>T (n.70+276G>T) | |
X | g.47574412C>G | CA516354006 | SYN1 | c.1572G>C (p.Pro524=) c.70+276G>C (n.70+276G>C) | |
X | g.47574412C>T | CA516354007 | SYN1 | c.1572G>A (p.Pro524=) c.70+276G>A (n.70+276G>A) | gnomAD v4 |
X | g.47574413G>A | CA412823257 | SYN1 | c.1571C>T (p.Pro524Leu) c.70+275C>T (n.70+275C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574413G>C | CA412823269 | SYN1 | c.1571C>G (p.Pro524Arg) c.70+275C>G (n.70+275C>G) | |
X | g.47574413G= | CA2427971293 | SYN1 | c.1571C= (p.Pro524=) c.70+275C= (n.70+275C=) | |
X | g.47574413G>T | CA412823270 | SYN1 | c.1571C>A (p.Pro524Gln) c.70+275C>A (n.70+275C>A) | gnomAD v4 |
X | g.47574414G>A | CA412823273 | SYN1 | c.1570C>T (p.Pro524Ser) c.70+274C>T (n.70+274C>T) | gnomAD v4 |
X | g.47574414G>C | CA412823275 | SYN1 | c.1570C>G (p.Pro524Ala) c.70+274C>G (n.70+274C>G) | |
X | g.47574414G>T | CA412823277 | SYN1 | c.1570C>A (p.Pro524Thr) c.70+274C>A (n.70+274C>A) | |
X | g.47574415C>A | CA516354008 | SYN1 | c.1569G>T (p.Ala523=) c.70+273G>T (n.70+273G>T) | gnomAD v4 |
X | g.47574415C= | CA2427971294 | SYN1 | c.1569G= (p.Ala523=) c.70+273G= (n.70+273G=) | |
X | g.47574415C>G | CA516354009 | SYN1 | c.1569G>C (p.Ala523=) c.70+273G>C (n.70+273G>C) | gnomAD v4 |
X | g.47574415C>T | CA293844 | SYN1 | c.1569G>A (p.Ala523=) c.70+273G>A (n.70+273G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574416G>A | CA412823287 | SYN1 | c.1568C>T (p.Ala523Val) c.70+272C>T (n.70+272C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574416G>C | CA412823283 | SYN1 | c.1568C>G (p.Ala523Gly) c.70+272C>G (n.70+272C>G) | |
X | g.47574416G= | CA2427971295 | SYN1 | c.1568C= (p.Ala523=) c.70+272C= (n.70+272C=) | |
X | g.47574416G>T | CA412823285 | SYN1 | c.1568C>A (p.Ala523Glu) c.70+272C>A (n.70+272C>A) | |
X | g.47574417C>A | CA412823289 | SYN1 | c.1567G>T (p.Ala523Ser) c.70+271G>T (n.70+271G>T) | gnomAD v4 |
X | g.47574417C>G | CA412823292 | SYN1 | c.1567G>C (p.Ala523Pro) c.70+271G>C (n.70+271G>C) | |
X | g.47574417C>T | CA412823294 | SYN1 | c.1567G>A (p.Ala523Thr) c.70+271G>A (n.70+271G>A) | gnomAD v4 |
X | g.47574418G>A | CA516354010 | SYN1 | c.1566C>T (p.Ala522=) c.70+270C>T (n.70+270C>T) | gnomAD v4 |
X | g.47574418G>C | CA516354011 | SYN1 | c.1566C>G (p.Ala522=) c.70+270C>G (n.70+270C>G) | |
X | g.47574418G>T | CA516354012 | SYN1 | c.1566C>A (p.Ala522=) c.70+270C>A (n.70+270C>A) | |
X | g.47574419del | CA2820775725 | SYN1 | c.1566del (p.Ala523ArgfsTer?) c.70+270del (n.70+270del) | |
X | g.47574419G>A | CA412823297 | SYN1 | c.1565C>T (p.Ala522Val) c.70+269C>T (n.70+269C>T) | gnomAD v4 |
X | g.47574419G>C | CA412823299 | SYN1 | c.1565C>G (p.Ala522Gly) c.70+269C>G (n.70+269C>G) | |
X | g.47574419G>T | CA412823302 | SYN1 | c.1565C>A (p.Ala522Asp) c.70+269C>A (n.70+269C>A) | |
X | g.47574420C>A | CA412823309 | SYN1 | c.1564G>T (p.Ala522Ser) c.70+268G>T (n.70+268G>T) | gnomAD v4 |
X | g.47574420C>G | CA412823312 | SYN1 | c.1564G>C (p.Ala522Pro) c.70+268G>C (n.70+268G>C) | |
X | g.47574420C>T | CA412823315 | SYN1 | c.1564G>A (p.Ala522Thr) c.70+268G>A (n.70+268G>A) | gnomAD v4 |
X | g.47574421C>A | CA412823322 | SYN1 | c.1563G>T (p.Gln521His) c.70+267G>T (n.70+267G>T) | |
X | g.47574421C>G | CA412823323 | SYN1 | c.1563G>C (p.Gln521His) c.70+267G>C (n.70+267G>C) | |
X | g.47574421C>T | CA516354013 | SYN1 | c.1563G>A (p.Gln521=) c.70+267G>A (n.70+267G>A) | |
X | g.47574422T>A | CA412823327 | SYN1 | c.1562A>T (p.Gln521Leu) c.70+266A>T (n.70+266A>T) | |
X | g.47574422T>C | CA412823331 | SYN1 | c.1562A>G (p.Gln521Arg) c.70+266A>G (n.70+266A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574422T>G | CA412823326 | SYN1 | c.1562A>C (p.Gln521Pro) c.70+266A>C (n.70+266A>C) | gnomAD v4 |
X | g.47574422T= | CA2427971296 | SYN1 | c.1562A= (p.Gln521=) c.70+266A= (n.70+266A=) | |
X | g.47574423G>A | CA412823333 | SYN1 | c.1561C>T (p.Gln521Ter) c.70+265C>T (n.70+265C>T) | gnomAD v4 |
X | g.47574423G>C | CA412823335 | SYN1 | c.1561C>G (p.Gln521Glu) c.70+265C>G (n.70+265C>G) | |
X | g.47574423G>T | CA412823338 | SYN1 | c.1561C>A (p.Gln521Lys) c.70+265C>A (n.70+265C>A) | |
X | g.47574424G>A | CA516354014 | SYN1 | c.1560C>T (p.Ser520=) c.70+264C>T (n.70+264C>T) | |
X | g.47574424G>C | CA516354015 | SYN1 | c.1560C>G (p.Ser520=) c.70+264C>G (n.70+264C>G) | |
X | g.47574424G>T | CA516354016 | SYN1 | c.1560C>A (p.Ser520=) c.70+264C>A (n.70+264C>A) | gnomAD v4 |
X | g.47574425G>A | CA10398349 | SYN1 | c.1559C>T (p.Ser520Phe) c.70+263C>T (n.70+263C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574425G>C | CA412823343 | SYN1 | c.1559C>G (p.Ser520Cys) c.70+263C>G (n.70+263C>G) | |
X | g.47574425G= | CA2427971297 | SYN1 | c.1559C= (p.Ser520=) c.70+263C= (n.70+263C=) | |
X | g.47574425G>T | CA412823345 | SYN1 | c.1559C>A (p.Ser520Tyr) c.70+263C>A (n.70+263C>A) | gnomAD v4 |
X | g.47574426A>C | CA412823350 | SYN1 | c.1558T>G (p.Ser520Ala) c.70+262T>G (n.70+262T>G) | |
X | g.47574426A>G | CA412823353 | SYN1 | c.1558T>C (p.Ser520Pro) c.70+262T>C (n.70+262T>C) | gnomAD v4 |
X | g.47574426A>T | CA412823355 | SYN1 | c.1558T>A (p.Ser520Thr) c.70+262T>A (n.70+262T>A) | |
X | g.47574427C>A | CA516354017 | SYN1 | c.1557G>T (p.Ala519=) c.70+261G>T (n.70+261G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574427C= | CA2427971298 | SYN1 | c.1557G= (p.Ala519=) c.70+261G= (n.70+261G=) | |
X | g.47574427C>G | CA516354018 | SYN1 | c.1557G>C (p.Ala519=) c.70+261G>C (n.70+261G>C) | |
X | g.47574427C>T | CA329057336 | SYN1 | c.1557G>A (p.Ala519=) c.70+261G>A (n.70+261G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574428G>A | CA412823358 | SYN1 | c.1556C>T (p.Ala519Val) c.70+260C>T (n.70+260C>T) | ClinVar gnomAD v4 |
X | g.47574428G>C | CA412823361 | SYN1 | c.1556C>G (p.Ala519Gly) c.70+260C>G (n.70+260C>G) | |
X | g.47574428G>T | CA412823363 | SYN1 | c.1556C>A (p.Ala519Glu) c.70+260C>A (n.70+260C>A) | gnomAD v4 |
X | g.47574429C>A | CA412823370 | SYN1 | c.1555G>T (p.Ala519Ser) c.70+259G>T (n.70+259G>T) | |
X | g.47574429C>G | CA412823373 | SYN1 | c.1555G>C (p.Ala519Pro) c.70+259G>C (n.70+259G>C) | |
X | g.47574429C>T | CA412823366 | SYN1 | c.1555G>A (p.Ala519Thr) c.70+259G>A (n.70+259G>A) | gnomAD v4 |
X | g.47574430G>A | CA516354019 | SYN1 | c.1554C>T (p.Pro518=) c.70+258C>T (n.70+258C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574430G>C | CA516354020 | SYN1 | c.1554C>G (p.Pro518=) c.70+258C>G (n.70+258C>G) | |
X | g.47574430G= | CA2427971299 | SYN1 | c.1554C= (p.Pro518=) c.70+258C= (n.70+258C=) | |
X | g.47574430G>T | CA516354021 | SYN1 | c.1554C>A (p.Pro518=) c.70+258C>A (n.70+258C>A) | gnomAD v4 |
X | g.47574431G>A | CA412823375 | SYN1 | c.1553C>T (p.Pro518Leu) c.70+257C>T (n.70+257C>T) | |
X | g.47574431G>C | CA412823378 | SYN1 | c.1553C>G (p.Pro518Arg) c.70+257C>G (n.70+257C>G) | |
X | g.47574431G>T | CA412823380 | SYN1 | c.1553C>A (p.Pro518His) c.70+257C>A (n.70+257C>A) | gnomAD v4 |
X | g.47574432G>A | CA412823382 | SYN1 | c.1552C>T (p.Pro518Ser) c.70+256C>T (n.70+256C>T) | |
X | g.47574432G>C | CA412823384 | SYN1 | c.1552C>G (p.Pro518Ala) c.70+256C>G (n.70+256C>G) | gnomAD v4 |
X | g.47574432G>T | CA412823386 | SYN1 | c.1552C>A (p.Pro518Thr) c.70+256C>A (n.70+256C>A) | |
X | g.47574433C>A | CA412823387 | SYN1 | c.1551G>T (p.Gln517His) c.70+255G>T (n.70+255G>T) | |
X | g.47574433C>G | CA412823388 | SYN1 | c.1551G>C (p.Gln517His) c.70+255G>C (n.70+255G>C) | |
X | g.47574433C>T | CA516354022 | SYN1 | c.1551G>A (p.Gln517=) c.70+255G>A (n.70+255G>A) | |
X | g.47574434T>A | CA412823390 | SYN1 | c.1550A>T (p.Gln517Leu) c.70+254A>T (n.70+254A>T) | |
X | g.47574434T>C | CA412823395 | SYN1 | c.1550A>G (p.Gln517Arg) c.70+254A>G (n.70+254A>G) | |
X | g.47574434T>G | CA412823397 | SYN1 | c.1550A>C (p.Gln517Pro) c.70+254A>C (n.70+254A>C) | |
X | g.47574435G>A | CA412823398 | SYN1 | c.1549C>T (p.Gln517Ter) c.70+253C>T (n.70+253C>T) | gnomAD v4 |
X | g.47574435G>C | CA412823400 | SYN1 | c.1549C>G (p.Gln517Glu) c.70+253C>G (n.70+253C>G) | |
X | g.47574435G>T | CA412823401 | SYN1 | c.1549C>A (p.Gln517Lys) c.70+253C>A (n.70+253C>A) | gnomAD v4 |
X | g.47574443_47574472del | CA2820775726 | SYN1 | c.1520_1549del (p.Arg507_Gln516del) c.70+224_70+253del (n.70+224_70+253del) | |
X | g.47574436C>A | CA412823403 | SYN1 | c.1548G>T (p.Gln516His) c.70+252G>T (n.70+252G>T) | gnomAD v4 |
X | g.47574436C>G | CA412823402 | SYN1 | c.1548G>C (p.Gln516His) c.70+252G>C (n.70+252G>C) | gnomAD v4 |
X | g.47574436C>T | CA516354023 | SYN1 | c.1548G>A (p.Gln516=) c.70+252G>A (n.70+252G>A) | gnomAD v4 |
X | g.47574437T>A | CA412823405 | SYN1 | c.1547A>T (p.Gln516Leu) c.70+251A>T (n.70+251A>T) | |
X | g.47574437T>C | CA412823408 | SYN1 | c.1547A>G (p.Gln516Arg) c.70+251A>G (n.70+251A>G) | gnomAD v4 |
X | g.47574437T>G | CA412823407 | SYN1 | c.1547A>C (p.Gln516Pro) c.70+251A>C (n.70+251A>C) | |
X | g.47574438G>A | CA412823409 | SYN1 | c.1546C>T (p.Gln516Ter) c.70+250C>T (n.70+250C>T) | |
X | g.47574438G>C | CA412823412 | SYN1 | c.1546C>G (p.Gln516Glu) c.70+250C>G (n.70+250C>G) | |
X | g.47574438G>T | CA412823410 | SYN1 | c.1546C>A (p.Gln516Lys) c.70+250C>A (n.70+250C>A) | gnomAD v4 |
X | g.47574441del | CA2693585221 | SYN1 | c.1546del (p.Gln516SerfsTer?) c.70+250del (n.70+250del) | gnomAD v4 |
X | g.47574439G>A | CA516354024 | SYN1 | c.1545C>T (p.Pro515=) c.70+249C>T (n.70+249C>T) | gnomAD v4 |
X | g.47574439G>C | CA516354025 | SYN1 | c.1545C>G (p.Pro515=) c.70+249C>G (n.70+249C>G) | |
X | g.47574439G>T | CA516354026 | SYN1 | c.1545C>A (p.Pro515=) c.70+249C>A (n.70+249C>A) | |
X | g.47574440G>A | CA412823413 | SYN1 | c.1544C>T (p.Pro515Leu) c.70+248C>T (n.70+248C>T) | |
X | g.47574440G>C | CA412823415 | SYN1 | c.1544C>G (p.Pro515Arg) c.70+248C>G (n.70+248C>G) | |
X | g.47574440G>T | CA412823414 | SYN1 | c.1544C>A (p.Pro515His) c.70+248C>A (n.70+248C>A) | |
X | g.47574441G>A | CA412823417 | SYN1 | c.1543C>T (p.Pro515Ser) c.70+247C>T (n.70+247C>T) | gnomAD v4 |
X | g.47574441G>C | CA318961 | SYN1 | c.1543C>G (p.Pro515Ala) c.70+247C>G (n.70+247C>G) | ClinVar dbSNP |
X | g.47574441G= | CA2427971300 | SYN1 | c.1543C= (p.Pro515=) c.70+247C= (n.70+247C=) | |
X | g.47574441G>T | CA412823420 | SYN1 | c.1543C>A (p.Pro515Thr) c.70+247C>A (n.70+247C>A) | |
X | g.47574442C>A | CA516354029 | SYN1 | c.1542G>T (p.Ala514=) c.70+246G>T (n.70+246G>T) | gnomAD v4 |
X | g.47574442C= | CA2427971301 | SYN1 | c.1542G= (p.Ala514=) c.70+246G= (n.70+246G=) | |
X | g.47574442C>G | CA516354028 | SYN1 | c.1542G>C (p.Ala514=) c.70+246G>C (n.70+246G>C) | |
X | g.47574442C>T | CA516354027 | SYN1 | c.1542G>A (p.Ala514=) c.70+246G>A (n.70+246G>A) | dbSNP gnomAD v4 |
X | g.47574443G>A | CA412823421 | SYN1 | c.1541C>T (p.Ala514Val) c.70+245C>T (n.70+245C>T) | dbSNP gnomAD v4 |
X | g.47574443G>C | CA412823422 | SYN1 | c.1541C>G (p.Ala514Gly) c.70+245C>G (n.70+245C>G) | |
X | g.47574443G= | CA2427971302 | SYN1 | c.1541C= (p.Ala514=) c.70+245C= (n.70+245C=) | |
X | g.47574443G>T | CA412823423 | SYN1 | c.1541C>A (p.Ala514Glu) c.70+245C>A (n.70+245C>A) | gnomAD v4 |
X | g.47574444C>A | CA412823428 | SYN1 | c.1540G>T (p.Ala514Ser) c.70+244G>T (n.70+244G>T) | |
X | g.47574444C>G | CA412823426 | SYN1 | c.1540G>C (p.Ala514Pro) c.70+244G>C (n.70+244G>C) | |
X | g.47574444C>T | CA412823425 | SYN1 | c.1540G>A (p.Ala514Thr) c.70+244G>A (n.70+244G>A) | gnomAD v4 |
X | g.47574445T>A | CA516354030 | SYN1 | c.1539A>T (p.Ser513=) c.70+243A>T (n.70+243A>T) | |
X | g.47574445T>C | CA516354031 | SYN1 | c.1539A>G (p.Ser513=) c.70+243A>G (n.70+243A>G) | gnomAD v4 |
X | g.47574445T>G | CA516354032 | SYN1 | c.1539A>C (p.Ser513=) c.70+243A>C (n.70+243A>C) | |
X | g.47574446G>A | CA412823430 | SYN1 | c.1538C>T (p.Ser513Leu) c.70+242C>T (n.70+242C>T) | ClinVar gnomAD v4 |
X | g.47574446G>C | CA412823432 | SYN1 | c.1538C>G (p.Ser513Ter) c.70+242C>G (n.70+242C>G) | |
X | g.47574446G>T | CA412823433 | SYN1 | c.1538C>A (p.Ser513Ter) c.70+242C>A (n.70+242C>A) | |
X | g.47574447A>C | CA412823435 | SYN1 | c.1537T>G (p.Ser513Ala) c.70+241T>G (n.70+241T>G) | |
X | g.47574447A>G | CA412823438 | SYN1 | c.1537T>C (p.Ser513Pro) c.70+241T>C (n.70+241T>C) | |
X | g.47574447A>T | CA412823439 | SYN1 | c.1537T>A (p.Ser513Thr) c.70+241T>A (n.70+241T>A) | gnomAD v4 |
X | g.47574448G>A | CA516354036 | SYN1 | c.1536C>T (p.Thr512=) c.70+240C>T (n.70+240C>T) | |
X | g.47574448G>C | CA516354037 | SYN1 | c.1536C>G (p.Thr512=) c.70+240C>G (n.70+240C>G) | |
X | g.47574448G>T | CA516354038 | SYN1 | c.1536C>A (p.Thr512=) c.70+240C>A (n.70+240C>A) | gnomAD v4 |
X | g.47574449G>A | CA412823441 | SYN1 | c.1535C>T (p.Thr512Ile) c.70+239C>T (n.70+239C>T) | gnomAD v4 |
X | g.47574449G>C | CA412823444 | SYN1 | c.1535C>G (p.Thr512Ser) c.70+239C>G (n.70+239C>G) | |
X | g.47574449G>T | CA412823442 | SYN1 | c.1535C>A (p.Thr512Asn) c.70+239C>A (n.70+239C>A) | gnomAD v4 |
X | g.47574450T>A | CA412823447 | SYN1 | c.1534A>T (p.Thr512Ser) c.70+238A>T (n.70+238A>T) | |
X | g.47574450T>C | CA412823448 | SYN1 | c.1534A>G (p.Thr512Ala) c.70+238A>G (n.70+238A>G) | gnomAD v4 |
X | g.47574450T>G | CA412823451 | SYN1 | c.1534A>C (p.Thr512Pro) c.70+238A>C (n.70+238A>C) | |
X | g.47574451G>A | CA516354041 | SYN1 | c.1533C>T (p.Pro511=) c.70+237C>T (n.70+237C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574451G>C | CA516354042 | SYN1 | c.1533C>G (p.Pro511=) c.70+237C>G (n.70+237C>G) | |
X | g.47574451G= | CA2427971303 | SYN1 | c.1533C= (p.Pro511=) c.70+237C= (n.70+237C=) | |
X | g.47574451G>T | CA516354043 | SYN1 | c.1533C>A (p.Pro511=) c.70+237C>A (n.70+237C>A) | gnomAD v4 |
X | g.47574453del | CA2693585222 | SYN1 | c.1533del (p.Thr512ProfsTer?) c.70+237del (n.70+237del) | gnomAD v4 |
X | g.47574452G>A | CA412823456 | SYN1 | c.1532C>T (p.Pro511Leu) c.70+236C>T (n.70+236C>T) | gnomAD v4 |
X | g.47574452G>C | CA412823458 | SYN1 | c.1532C>G (p.Pro511Arg) c.70+236C>G (n.70+236C>G) | |
X | g.47574452G>T | CA412823461 | SYN1 | c.1532C>A (p.Pro511His) c.70+236C>A (n.70+236C>A) | gnomAD v4 |
X | g.47574453G>A | CA329057340 | SYN1 | c.1531C>T (p.Pro511Ser) c.70+235C>T (n.70+235C>T) | dbSNP gnomAD v4 |
X | g.47574453G>C | CA412823465 | SYN1 | c.1531C>G (p.Pro511Ala) c.70+235C>G (n.70+235C>G) | |
X | g.47574453G= | CA2427971304 | SYN1 | c.1531C= (p.Pro511=) c.70+235C= (n.70+235C=) | |
X | g.47574453G>T | CA412823470 | SYN1 | c.1531C>A (p.Pro511Thr) c.70+235C>A (n.70+235C>A) | gnomAD v4 |
X | g.47574454A>C | CA412823472 | SYN1 | c.1530T>G (p.Ser510Arg) c.70+234T>G (n.70+234T>G) | |
X | g.47574454A>G | CA516354045 | SYN1 | c.1530T>C (p.Ser510=) c.70+234T>C (n.70+234T>C) | |
X | g.47574454A>T | CA412823475 | SYN1 | c.1530T>A (p.Ser510Arg) c.70+234T>A (n.70+234T>A) | |
X | g.47574455C>A | CA412823477 | SYN1 | c.1529G>T (p.Ser510Ile) c.70+233G>T (n.70+233G>T) | gnomAD v4 |
X | g.47574455C>G | CA412823483 | SYN1 | c.1529G>C (p.Ser510Thr) c.70+233G>C (n.70+233G>C) | |
X | g.47574455C>T | CA412823478 | SYN1 | c.1529G>A (p.Ser510Asn) c.70+233G>A (n.70+233G>A) | |
X | g.47574456T>A | CA412823485 | SYN1 | c.1528A>T (p.Ser510Cys) c.70+232A>T (n.70+232A>T) | |
X | g.47574456T>C | CA412823486 | SYN1 | c.1528A>G (p.Ser510Gly) c.70+232A>G (n.70+232A>G) | gnomAD v4 |
X | g.47574456T>G | CA412823489 | SYN1 | c.1528A>C (p.Ser510Arg) c.70+232A>C (n.70+232A>C) | |
X | g.47574457T>A | CA516354050 | SYN1 | c.1527A>T (p.Pro509=) c.70+231A>T (n.70+231A>T) | |
X | g.47574457T>C | CA516354049 | SYN1 | c.1527A>G (p.Pro509=) c.70+231A>G (n.70+231A>G) | gnomAD v4 |
X | g.47574457T>G | CA516354048 | SYN1 | c.1527A>C (p.Pro509=) c.70+231A>C (n.70+231A>C) | |
X | g.47574458G>A | CA412823492 | SYN1 | c.1526C>T (p.Pro509Leu) c.70+230C>T (n.70+230C>T) | gnomAD v4 |
X | g.47574458G>C | CA412823499 | SYN1 | c.1526C>G (p.Pro509Arg) c.70+230C>G (n.70+230C>G) | COSMIC COSMIC |
X | g.47574458G>T | CA412823502 | SYN1 | c.1526C>A (p.Pro509Gln) c.70+230C>A (n.70+230C>A) | gnomAD v4 |
X | g.47574459del | CA2693585223 | SYN1 | c.1526del (p.Pro509GlnfsTer?) c.70+230del (n.70+230del) | gnomAD v4 |
X | g.47574459G>A | CA412823504 | SYN1 | c.1525C>T (p.Pro509Ser) c.70+229C>T (n.70+229C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574459G>C | CA412823507 | SYN1 | c.1525C>G (p.Pro509Ala) c.70+229C>G (n.70+229C>G) | gnomAD v4 |
X | g.47574459G= | CA2427971305 | SYN1 | c.1525C= (p.Pro509=) c.70+229C= (n.70+229C=) | |
X | g.47574459G>T | CA412823508 | SYN1 | c.1525C>A (p.Pro509Thr) c.70+229C>A (n.70+229C>A) | gnomAD v4 |
X | g.47574460A>C | CA516354056 | SYN1 | c.1524T>G (p.Leu508=) c.70+228T>G (n.70+228T>G) | |
X | g.47574460A>G | CA516354055 | SYN1 | c.1524T>C (p.Leu508=) c.70+228T>C (n.70+228T>C) | dbSNP gnomAD v4 |
X | g.47574460A>T | CA516354054 | SYN1 | c.1524T>A (p.Leu508=) c.70+228T>A (n.70+228T>A) | gnomAD v4 |
X | g.47574461del | CA2693585224 | SYN1 | c.1524del (p.Pro509GlnfsTer?) c.70+228del (n.70+228del) | gnomAD v4 |
X | g.47574461A>C | CA412823511 | SYN1 | c.1523T>G (p.Leu508Arg) c.70+227T>G (n.70+227T>G) | |
X | g.47574461A>G | CA412823512 | SYN1 | c.1523T>C (p.Leu508Pro) c.70+227T>C (n.70+227T>C) | gnomAD v4 |
X | g.47574461A>T | CA412823514 | SYN1 | c.1523T>A (p.Leu508His) c.70+227T>A (n.70+227T>A) | gnomAD v4 |
X | g.47574462G>A | CA412823520 | SYN1 | c.1522C>T (p.Leu508Phe) c.70+226C>T (n.70+226C>T) | |
X | g.47574462G>C | CA412823517 | SYN1 | c.1522C>G (p.Leu508Val) c.70+226C>G (n.70+226C>G) | |
X | g.47574462G>T | CA412823519 | SYN1 | c.1522C>A (p.Leu508Ile) c.70+226C>A (n.70+226C>A) | gnomAD v4 |
X | g.47574472_47574564del | CA2693585225 | SYN1 | c.1430_1522del (p.Gln477_Arg507del) c.70+134_70+226del (n.70+134_70+226del) | gnomAD v4 |
X | g.47574463G>A | CA516354058 | SYN1 | c.1521C>T (p.Arg507=) c.70+225C>T (n.70+225C>T) | gnomAD v4 |
X | g.47574463G>C | CA516354062 | SYN1 | c.1521C>G (p.Arg507=) c.70+225C>G (n.70+225C>G) | gnomAD v4 |
X | g.47574463G>T | CA516354059 | SYN1 | c.1521C>A (p.Arg507=) c.70+225C>A (n.70+225C>A) | gnomAD v4 |
X | g.47574464C>A | CA412823524 | SYN1 | c.1520G>T (p.Arg507Leu) c.70+224G>T (n.70+224G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574464C= | CA2427971306 | SYN1 | c.1520G= (p.Arg507=) c.70+224G= (n.70+224G=) | |
X | g.47574464C>G | CA412823525 | SYN1 | c.1520G>C (p.Arg507Pro) c.70+224G>C (n.70+224G>C) | |
X | g.47574464C>T | CA412823528 | SYN1 | c.1520G>A (p.Arg507His) c.70+224G>A (n.70+224G>A) | gnomAD v4 |
X | g.47574465G>A | CA412823530 | SYN1 | c.1519C>T (p.Arg507Cys) c.70+223C>T (n.70+223C>T) | gnomAD v4 |
X | g.47574465G>C | CA412823531 | SYN1 | c.1519C>G (p.Arg507Gly) c.70+223C>G (n.70+223C>G) | |
X | g.47574465G= | CA2427971307 | SYN1 | c.1519C= (p.Arg507=) c.70+223C= (n.70+223C=) | |
X | g.47574465G>T | CA412823532 | SYN1 | c.1519C>A (p.Arg507Ser) c.70+223C>A (n.70+223C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574466C>A | CA412823534 | SYN1 | c.1518G>T (p.Gln506His) c.70+222G>T (n.70+222G>T) | gnomAD v4 |
X | g.47574466C>G | CA412823536 | SYN1 | c.1518G>C (p.Gln506His) c.70+222G>C (n.70+222G>C) | |
X | g.47574466C>T | CA516354067 | SYN1 | c.1518G>A (p.Gln506=) c.70+222G>A (n.70+222G>A) | |
X | g.47574467T>A | CA412823538 | SYN1 | c.1517A>T (p.Gln506Leu) c.70+221A>T (n.70+221A>T) | |
X | g.47574467T>C | CA412823540 | SYN1 | c.1517A>G (p.Gln506Arg) c.70+221A>G (n.70+221A>G) | |
X | g.47574467T>G | CA412823543 | SYN1 | c.1517A>C (p.Gln506Pro) c.70+221A>C (n.70+221A>C) | |
X | g.47574468G>A | CA412823548 | SYN1 | c.1516C>T (p.Gln506Ter) c.70+220C>T (n.70+220C>T) | ClinVar dbSNP |
X | g.47574468G>C | CA412823546 | SYN1 | c.1516C>G (p.Gln506Glu) c.70+220C>G (n.70+220C>G) | |
X | g.47574468G= | CA2427971308 | SYN1 | c.1516C= (p.Gln506=) c.70+220C= (n.70+220C=) | |
X | g.47574468G>T | CA412823544 | SYN1 | c.1516C>A (p.Gln506Lys) c.70+220C>A (n.70+220C>A) | gnomAD v4 |
X | g.47574471del | CA2820775727 | SYN1 | c.1516del (p.Gln506SerfsTer?) c.70+220del (n.70+220del) | |
X | g.47574470_47574471del | CA2579596681 | SYN1 | c.1515_1516del (p.Gln506AlafsTer?) c.70+219_70+220del (n.70+219_70+220del) | |
X | g.47574469G>A | CA516354070 | SYN1 | c.1515C>T (p.Pro505=) c.70+219C>T (n.70+219C>T) | |
X | g.47574469G>C | CA516354071 | SYN1 | c.1515C>G (p.Pro505=) c.70+219C>G (n.70+219C>G) | |
X | g.47574469G>T | CA516354072 | SYN1 | c.1515C>A (p.Pro505=) c.70+219C>A (n.70+219C>A) | gnomAD v4 |
X | g.47574470G>A | CA412823555 | SYN1 | c.1514C>T (p.Pro505Leu) c.70+218C>T (n.70+218C>T) | gnomAD v4 |
X | g.47574470G>C | CA412823551 | SYN1 | c.1514C>G (p.Pro505Arg) c.70+218C>G (n.70+218C>G) | |
X | g.47574470G>T | CA412823552 | SYN1 | c.1514C>A (p.Pro505His) c.70+218C>A (n.70+218C>A) | gnomAD v4 COSMIC COSMIC |
X | g.47574471G>A | CA412823559 | SYN1 | c.1513C>T (p.Pro505Ser) c.70+217C>T (n.70+217C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574471G>C | CA412823560 | SYN1 | c.1513C>G (p.Pro505Ala) c.70+217C>G (n.70+217C>G) | |
X | g.47574471G= | CA2427971309 | SYN1 | c.1513C= (p.Pro505=) c.70+217C= (n.70+217C=) | |
X | g.47574471G>T | CA412823561 | SYN1 | c.1513C>A (p.Pro505Thr) c.70+217C>A (n.70+217C>A) | |
X | g.47574472C>A | CA516354074 | SYN1 | c.1512G>T (p.Leu504=) c.70+216G>T (n.70+216G>T) | gnomAD v4 |
X | g.47574472C>G | CA516354075 | SYN1 | c.1512G>C (p.Leu504=) c.70+216G>C (n.70+216G>C) | |
X | g.47574472C>T | CA516354076 | SYN1 | c.1512G>A (p.Leu504=) c.70+216G>A (n.70+216G>A) | gnomAD v4 |
X | g.47574473A>C | CA412823562 | SYN1 | c.1511T>G (p.Leu504Arg) c.70+215T>G (n.70+215T>G) | |
X | g.47574473A>G | CA412823563 | SYN1 | c.1511T>C (p.Leu504Pro) c.70+215T>C (n.70+215T>C) | gnomAD v4 |
X | g.47574473A>T | CA412823564 | SYN1 | c.1511T>A (p.Leu504Gln) c.70+215T>A (n.70+215T>A) | |
X | g.47574473_47574474delinsAG | CA2427971310 | SYN1 | c.1510_1511delinsCT (p.Leu504=) c.70+214_70+215delinsCT (n.70+214_70+215delinsCT) | |
X | g.47574474G>A | CA516354079 | SYN1 | c.1510C>T (p.Leu504=) c.70+214C>T (n.70+214C>T) | gnomAD v4 COSMIC COSMIC |
X | g.47574474G>C | CA412823565 | SYN1 | c.1510C>G (p.Leu504Val) c.70+214C>G (n.70+214C>G) | |
X | g.47574474G>T | CA412823566 | SYN1 | c.1510C>A (p.Leu504Met) c.70+214C>A (n.70+214C>A) | gnomAD v4 |
X | g.47574478del | CA641900908 | SYN1 | c.1510del (p.Leu504CysfsTer?) c.70+214del (n.70+214del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574475G>A | CA516354081 | SYN1 | c.1509C>T (p.Pro503=) c.70+213C>T (n.70+213C>T) | gnomAD v4 |
X | g.47574475G>C | CA516354082 | SYN1 | c.1509C>G (p.Pro503=) c.70+213C>G (n.70+213C>G) | |
X | g.47574475G>T | CA516354083 | SYN1 | c.1509C>A (p.Pro503=) c.70+213C>A (n.70+213C>A) | gnomAD v4 |
X | g.47574476G>A | CA412823567 | SYN1 | c.1508C>T (p.Pro503Leu) c.70+212C>T (n.70+212C>T) | |
X | g.47574476G>C | CA412823570 | SYN1 | c.1508C>G (p.Pro503Arg) c.70+212C>G (n.70+212C>G) | |
X | g.47574476G>T | CA412823571 | SYN1 | c.1508C>A (p.Pro503His) c.70+212C>A (n.70+212C>A) | gnomAD v4 |
X | g.47574477G>A | CA412823581 | SYN1 | c.1507C>T (p.Pro503Ser) c.70+211C>T (n.70+211C>T) | gnomAD v4 |
X | g.47574477G>C | CA412823576 | SYN1 | c.1507C>G (p.Pro503Ala) c.70+211C>G (n.70+211C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574477G>T | CA412823574 | SYN1 | c.1507C>A (p.Pro503Thr) c.70+211C>A (n.70+211C>A) | gnomAD v4 |
X | g.47574478G>A | CA516354085 | SYN1 | c.1506C>T (p.Ser502=) c.70+210C>T (n.70+210C>T) | gnomAD v4 |
X | g.47574478G>C | CA412823583 | SYN1 | c.1506C>G (p.Ser502Arg) c.70+210C>G (n.70+210C>G) | |
X | g.47574478G>T | CA412823584 | SYN1 | c.1506C>A (p.Ser502Arg) c.70+210C>A (n.70+210C>A) | gnomAD v4 |
X | g.47574479C>A | CA412823586 | SYN1 | c.1505G>T (p.Ser502Ile) c.70+209G>T (n.70+209G>T) | |
X | g.47574479C>G | CA412823587 | SYN1 | c.1505G>C (p.Ser502Thr) c.70+209G>C (n.70+209G>C) | gnomAD v4 |
X | g.47574479C>T | CA412823590 | SYN1 | c.1505G>A (p.Ser502Asn) c.70+209G>A (n.70+209G>A) | gnomAD v4 |
X | g.47574480T>A | CA412823591 | SYN1 | c.1504A>T (p.Ser502Cys) c.70+208A>T (n.70+208A>T) | ClinVar gnomAD v4 |
X | g.47574480T>C | CA412823594 | SYN1 | c.1504A>G (p.Ser502Gly) c.70+208A>G (n.70+208A>G) | |
X | g.47574480T>G | CA412823595 | SYN1 | c.1504A>C (p.Ser502Arg) c.70+208A>C (n.70+208A>C) | |
X | g.47574481G>A | CA515991032 | SYN1 | c.1503C>T (p.Gly501=) c.70+207C>T (n.70+207C>T) | gnomAD v4 |
X | g.47574481G>C | CA515991035 | SYN1 | c.1503C>G (p.Gly501=) c.70+207C>G (n.70+207C>G) | |
X | g.47574481G>T | CA515991034 | SYN1 | c.1503C>A (p.Gly501=) c.70+207C>A (n.70+207C>A) | gnomAD v4 |
X | g.47574482C>A | CA412823597 | SYN1 | c.1502G>T (p.Gly501Val) c.70+206G>T (n.70+206G>T) | gnomAD v4 |
X | g.47574482C>G | CA412823598 | SYN1 | c.1502G>C (p.Gly501Ala) c.70+206G>C (n.70+206G>C) | |
X | g.47574482C>T | CA412823599 | SYN1 | c.1502G>A (p.Gly501Asp) c.70+206G>A (n.70+206G>A) | gnomAD v4 |
X | g.47574483C>A | CA412823601 | SYN1 | c.1501G>T (p.Gly501Cys) c.70+205G>T (n.70+205G>T) | |
X | g.47574483C>G | CA412823602 | SYN1 | c.1501G>C (p.Gly501Arg) c.70+205G>C (n.70+205G>C) | |
X | g.47574483C>T | CA412823605 | SYN1 | c.1501G>A (p.Gly501Ser) c.70+205G>A (n.70+205G>A) | gnomAD v4 |
X | g.47574484A>C | CA515991036 | SYN1 | c.1500T>G (p.Ala500=) c.70+204T>G (n.70+204T>G) | |
X | g.47574484A>G | CA515991037 | SYN1 | c.1500T>C (p.Ala500=) c.70+204T>C (n.70+204T>C) | gnomAD v4 |
X | g.47574484A>T | CA515991038 | SYN1 | c.1500T>A (p.Ala500=) c.70+204T>A (n.70+204T>A) | |
X | g.47574485G>A | CA412823610 | SYN1 | c.1499C>T (p.Ala500Val) c.70+203C>T (n.70+203C>T) | dbSNP gnomAD v4 |
X | g.47574485G>C | CA412823612 | SYN1 | c.1499C>G (p.Ala500Gly) c.70+203C>G (n.70+203C>G) | |
X | g.47574485G= | CA2427971311 | SYN1 | c.1499C= (p.Ala500=) c.70+203C= (n.70+203C=) | |
X | g.47574485G>T | CA412823608 | SYN1 | c.1499C>A (p.Ala500Asp) c.70+203C>A (n.70+203C>A) | gnomAD v4 |
X | g.47574486C>A | CA412823613 | SYN1 | c.1498G>T (p.Ala500Ser) c.70+202G>T (n.70+202G>T) | gnomAD v4 |
X | g.47574486C>G | CA412823615 | SYN1 | c.1498G>C (p.Ala500Pro) c.70+202G>C (n.70+202G>C) | gnomAD v4 |
X | g.47574486C>T | CA412823617 | SYN1 | c.1498G>A (p.Ala500Thr) c.70+202G>A (n.70+202G>A) | |
X | g.47574487T>A | CA515991040 | SYN1 | c.1497A>T (p.Pro499=) c.70+201A>T (n.70+201A>T) | gnomAD v4 |
X | g.47574487T>C | CA515991041 | SYN1 | c.1497A>G (p.Pro499=) c.70+201A>G (n.70+201A>G) | gnomAD v4 |
X | g.47574487T>G | CA515991042 | SYN1 | c.1497A>C (p.Pro499=) c.70+201A>C (n.70+201A>C) | |
X | g.47574488G>A | CA412823619 | SYN1 | c.1496C>T (p.Pro499Leu) c.70+200C>T (n.70+200C>T) | |
X | g.47574488G>C | CA412823622 | SYN1 | c.1496C>G (p.Pro499Arg) c.70+200C>G (n.70+200C>G) | |
X | g.47574488G>T | CA412823625 | SYN1 | c.1496C>A (p.Pro499Gln) c.70+200C>A (n.70+200C>A) | gnomAD v4 |
X | g.47574489G>A | CA412823628 | SYN1 | c.1495C>T (p.Pro499Ser) c.70+199C>T (n.70+199C>T) | |
X | g.47574489G>C | CA412823630 | SYN1 | c.1495C>G (p.Pro499Ala) c.70+199C>G (n.70+199C>G) | |
X | g.47574489G>T | CA412823632 | SYN1 | c.1495C>A (p.Pro499Thr) c.70+199C>A (n.70+199C>A) | gnomAD v4 |
X | g.47574490G>A | CA515991044 | SYN1 | c.1494C>T (p.Pro498=) c.70+198C>T (n.70+198C>T) | gnomAD v4 |
X | g.47574490G>C | CA329057349 | SYN1 | c.1494C>G (p.Pro498=) c.70+198C>G (n.70+198C>G) | dbSNP |
X | g.47574490G= | CA2427971312 | SYN1 | c.1494C= (p.Pro498=) c.70+198C= (n.70+198C=) | |
X | g.47574490G>T | CA515991043 | SYN1 | c.1494C>A (p.Pro498=) c.70+198C>A (n.70+198C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574491G>A | CA412823634 | SYN1 | c.1493C>T (p.Pro498Leu) c.70+197C>T (n.70+197C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574491G>C | CA412823636 | SYN1 | c.1493C>G (p.Pro498Arg) c.70+197C>G (n.70+197C>G) | |
X | g.47574491G= | CA2427971313 | SYN1 | c.1493C= (p.Pro498=) c.70+197C= (n.70+197C=) | |
X | g.47574491G>T | CA412823638 | SYN1 | c.1493C>A (p.Pro498His) c.70+197C>A (n.70+197C>A) | gnomAD v4 |
X | g.47574492G>A | CA412823646 | SYN1 | c.1492C>T (p.Pro498Ser) c.70+196C>T (n.70+196C>T) | gnomAD v4 |
X | g.47574492G>C | CA412823641 | SYN1 | c.1492C>G (p.Pro498Ala) c.70+196C>G (n.70+196C>G) | |
X | g.47574492G= | CA2427971314 | SYN1 | c.1492C= (p.Pro498=) c.70+196C= (n.70+196C=) | |
X | g.47574492G>T | CA412823643 | SYN1 | c.1492C>A (p.Pro498Thr) c.70+196C>A (n.70+196C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574493T>A | CA515991045 | SYN1 | c.1491A>T (p.Gly497=) c.70+195A>T (n.70+195A>T) | |
X | g.47574493T>C | CA515991046 | SYN1 | c.1491A>G (p.Gly497=) c.70+195A>G (n.70+195A>G) | gnomAD v4 |
X | g.47574493T>G | CA515991047 | SYN1 | c.1491A>C (p.Gly497=) c.70+195A>C (n.70+195A>C) | |
X | g.47574494C>A | CA412823651 | SYN1 | c.1490G>T (p.Gly497Val) c.70+194G>T (n.70+194G>T) | gnomAD v4 |
X | g.47574494C>G | CA412823653 | SYN1 | c.1490G>C (p.Gly497Ala) c.70+194G>C (n.70+194G>C) | |
X | g.47574494C>T | CA412823658 | SYN1 | c.1490G>A (p.Gly497Glu) c.70+194G>A (n.70+194G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574495del | CA2693585226 | SYN1 | c.1490del (p.Gly497AspfsTer?) c.70+194del (n.70+194del) | gnomAD v4 |
X | g.47574495C>A | CA412823662 | SYN1 | c.1489G>T (p.Gly497Ter) c.70+193G>T (n.70+193G>T) | gnomAD v4 |
X | g.47574495C>G | CA412823664 | SYN1 | c.1489G>C (p.Gly497Arg) c.70+193G>C (n.70+193G>C) | |
X | g.47574495C>T | CA412823667 | SYN1 | c.1489G>A (p.Gly497Arg) c.70+193G>A (n.70+193G>A) | |
X | g.47574496A>C | CA515991048 | SYN1 | c.1488T>G (p.Leu496=) c.70+192T>G (n.70+192T>G) | |
X | g.47574496A>G | CA515991049 | SYN1 | c.1488T>C (p.Leu496=) c.70+192T>C (n.70+192T>C) | gnomAD v4 |
X | g.47574496A>T | CA515991050 | SYN1 | c.1488T>A (p.Leu496=) c.70+192T>A (n.70+192T>A) | |
X | g.47574497A>C | CA412823670 | SYN1 | c.1487T>G (p.Leu496Arg) c.70+191T>G (n.70+191T>G) | |
X | g.47574497A>G | CA412823674 | SYN1 | c.1487T>C (p.Leu496Pro) c.70+191T>C (n.70+191T>C) | gnomAD v4 |
X | g.47574497A>T | CA412823676 | SYN1 | c.1487T>A (p.Leu496His) c.70+191T>A (n.70+191T>A) | |
X | g.47574498G>A | CA412823681 | SYN1 | c.1486C>T (p.Leu496Phe) c.70+190C>T (n.70+190C>T) | |
X | g.47574498G>C | CA412823684 | SYN1 | c.1486C>G (p.Leu496Val) c.70+190C>G (n.70+190C>G) | |
X | g.47574498G>T | CA412823686 | SYN1 | c.1486C>A (p.Leu496Ile) c.70+190C>A (n.70+190C>A) | gnomAD v4 |
X | g.47574499G>A | CA515991052 | SYN1 | c.1485C>T (p.Gly495=) c.70+189C>T (n.70+189C>T) | |
X | g.47574499G>C | CA515991053 | SYN1 | c.1485C>G (p.Gly495=) c.70+189C>G (n.70+189C>G) | |
X | g.47574499G>T | CA515991054 | SYN1 | c.1485C>A (p.Gly495=) c.70+189C>A (n.70+189C>A) | gnomAD v4 |
X | g.47574500C>A | CA412823693 | SYN1 | c.1484G>T (p.Gly495Val) c.70+188G>T (n.70+188G>T) | gnomAD v4 |
X | g.47574500C>G | CA412823698 | SYN1 | c.1484G>C (p.Gly495Ala) c.70+188G>C (n.70+188G>C) | gnomAD v4 |
X | g.47574500C>T | CA412823691 | SYN1 | c.1484G>A (p.Gly495Asp) c.70+188G>A (n.70+188G>A) | |
X | g.47574501C>A | CA412823701 | SYN1 | c.1483G>T (p.Gly495Cys) c.70+187G>T (n.70+187G>T) | gnomAD v4 |
X | g.47574501C>G | CA412823706 | SYN1 | c.1483G>C (p.Gly495Arg) c.70+187G>C (n.70+187G>C) | |
X | g.47574501C>T | CA412823702 | SYN1 | c.1483G>A (p.Gly495Ser) c.70+187G>A (n.70+187G>A) | ClinVar gnomAD v4 |
X | g.47574502T>A | CA515991055 | SYN1 | c.1482A>T (p.Ser494=) c.70+186A>T (n.70+186A>T) | gnomAD v4 |
X | g.47574502T>C | CA515991056 | SYN1 | c.1482A>G (p.Ser494=) c.70+186A>G (n.70+186A>G) | gnomAD v4 |
X | g.47574502T>G | CA515991058 | SYN1 | c.1482A>C (p.Ser494=) c.70+186A>C (n.70+186A>C) | |
X | g.47574503G>A | CA329057383 | SYN1 | c.1481C>T (p.Ser494Leu) c.70+185C>T (n.70+185C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574503G>C | CA412823716 | SYN1 | c.1481C>G (p.Ser494Ter) c.70+185C>G (n.70+185C>G) | |
X | g.47574503G= | CA2427971315 | SYN1 | c.1481C= (p.Ser494=) c.70+185C= (n.70+185C=) | |
X | g.47574503G>T | CA412823712 | SYN1 | c.1481C>A (p.Ser494Ter) c.70+185C>A (n.70+185C>A) | dbSNP gnomAD v2 |
X | g.47574504A>C | CA412823720 | SYN1 | c.1480T>G (p.Ser494Ala) c.70+184T>G (n.70+184T>G) | |
X | g.47574504A>G | CA412823721 | SYN1 | c.1480T>C (p.Ser494Pro) c.70+184T>C (n.70+184T>C) | |
X | g.47574504A>T | CA412823725 | SYN1 | c.1480T>A (p.Ser494Thr) c.70+184T>A (n.70+184T>A) | |
X | g.47574506del | CA2693585227 | SYN1 | c.1480del (p.Ser494GlnfsTer?) c.70+184del (n.70+184del) | gnomAD v4 |
X | g.47574505A>C | CA515991064 | SYN1 | c.1479T>G (p.Leu493=) c.70+183T>G (n.70+183T>G) | |
X | g.47574505A>G | CA515991065 | SYN1 | c.1479T>C (p.Leu493=) c.70+183T>C (n.70+183T>C) | |
X | g.47574505A>T | CA515991066 | SYN1 | c.1479T>A (p.Leu493=) c.70+183T>A (n.70+183T>A) | |
X | g.47574506A>C | CA412823729 | SYN1 | c.1478T>G (p.Leu493Arg) c.70+182T>G (n.70+182T>G) | |
X | g.47574506A>G | CA412823730 | SYN1 | c.1478T>C (p.Leu493Pro) c.70+182T>C (n.70+182T>C) | gnomAD v4 |
X | g.47574506A>T | CA412823732 | SYN1 | c.1478T>A (p.Leu493His) c.70+182T>A (n.70+182T>A) | gnomAD v4 |
X | g.47574507G>A | CA412823734 | SYN1 | c.1477C>T (p.Leu493Phe) c.70+181C>T (n.70+181C>T) | |
X | g.47574507G>C | CA412823736 | SYN1 | c.1477C>G (p.Leu493Val) c.70+181C>G (n.70+181C>G) | |
X | g.47574507G>T | CA412823738 | SYN1 | c.1477C>A (p.Leu493Ile) c.70+181C>A (n.70+181C>A) | |
X | g.47574508G>A | CA515991071 | SYN1 | c.1476C>T (p.His492=) c.70+180C>T (n.70+180C>T) | gnomAD v4 |
X | g.47574508G>C | CA412823742 | SYN1 | c.1476C>G (p.His492Gln) c.70+180C>G (n.70+180C>G) | |
X | g.47574508G>T | CA412823744 | SYN1 | c.1476C>A (p.His492Gln) c.70+180C>A (n.70+180C>A) | |
X | g.47574508_47574511delinsGTGC | CA2427971316 | SYN1 | c.1473_1476delinsGCAC (p.Gln491=) c.70+177_70+180delinsGCAC (n.70+177_70+180delinsGCAC) | |
X | g.47574509T>A | CA412823767 | SYN1 | c.1475A>T (p.His492Leu) c.70+179A>T (n.70+179A>T) | |
X | g.47574509T>C | CA412823764 | SYN1 | c.1475A>G (p.His492Arg) c.70+179A>G (n.70+179A>G) | |
X | g.47574509T>G | CA412823748 | SYN1 | c.1475A>C (p.His492Pro) c.70+179A>C (n.70+179A>C) | dbSNP |
X | g.47574509T= | CA2427971317 | SYN1 | c.1475A= (p.His492=) c.70+179A= (n.70+179A=) | |
X | g.47574514_47574516del | CA318976 | SYN1 | c.1473_1475del (p.Gln491del) c.70+177_70+179del (n.70+177_70+179del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574510del | CA2579596682 | SYN1 | c.1474del (p.His492ThrfsTer?) c.70+178del (n.70+178del) | |
X | g.47574510G>A | CA412823778 | SYN1 | c.1474C>T (p.His492Tyr) c.70+178C>T (n.70+178C>T) | gnomAD v4 |
X | g.47574510G>C | CA412823782 | SYN1 | c.1474C>G (p.His492Asp) c.70+178C>G (n.70+178C>G) | gnomAD v4 |
X | g.47574510G>T | CA412823786 | SYN1 | c.1474C>A (p.His492Asn) c.70+178C>A (n.70+178C>A) | gnomAD v4 |
X | g.47574511C>A | CA412823789 | SYN1 | c.1473G>T (p.Gln491His) c.70+177G>T (n.70+177G>T) | gnomAD v4 |
X | g.47574511C= | CA2427971318 | SYN1 | c.1473G= (p.Gln491=) c.70+177G= (n.70+177G=) | |
X | g.47574511C>G | CA412823793 | SYN1 | c.1473G>C (p.Gln491His) c.70+177G>C (n.70+177G>C) | gnomAD v4 |
X | g.47574511C>T | CA515991077 | SYN1 | c.1473G>A (p.Gln491=) c.70+177G>A (n.70+177G>A) | dbSNP gnomAD v4 |