Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574082_47574194del | CA2580101019 | SYN1 | c.1794_1906del (p.Thr601GlufsTer?) c.70+498_70+610del (n.70+498_70+610del) | ClinVar |
X | g.47574134G>A | CA412822371 | SYN1 | c.1850C>T (p.Thr617Ile) c.70+554C>T (n.70+554C>T) | gnomAD v4 |
X | g.47574134G>C | CA412822374 | SYN1 | c.1850C>G (p.Thr617Ser) c.70+554C>G (n.70+554C>G) | gnomAD v4 |
X | g.47574134G>T | CA412822372 | SYN1 | c.1850C>A (p.Thr617Asn) c.70+554C>A (n.70+554C>A) | |
X | g.47574135T>A | CA412822375 | SYN1 | c.1849A>T (p.Thr617Ser) c.70+553A>T (n.70+553A>T) | |
X | g.47574135T>C | CA412822376 | SYN1 | c.1849A>G (p.Thr617Ala) c.70+553A>G (n.70+553A>G) | gnomAD v4 |
X | g.47574135T>G | CA412822377 | SYN1 | c.1849A>C (p.Thr617Pro) c.70+553A>C (n.70+553A>C) | |
X | g.47574136G>A | CA516353379 | SYN1 | c.1848C>T (p.Pro616=) c.70+552C>T (n.70+552C>T) | gnomAD v4 |
X | g.47574136G>C | CA516353381 | SYN1 | c.1848C>G (p.Pro616=) c.70+552C>G (n.70+552C>G) | |
X | g.47574136G>T | CA516353382 | SYN1 | c.1848C>A (p.Pro616=) c.70+552C>A (n.70+552C>A) | gnomAD v4 |
X | g.47574137G>A | CA412822380 | SYN1 | c.1847C>T (p.Pro616Leu) c.70+551C>T (n.70+551C>T) | |
X | g.47574137G>C | CA412822381 | SYN1 | c.1847C>G (p.Pro616Arg) c.70+551C>G (n.70+551C>G) | |
X | g.47574137G>T | CA412822383 | SYN1 | c.1847C>A (p.Pro616His) c.70+551C>A (n.70+551C>A) | gnomAD v4 |
X | g.47574138G>A | CA412822384 | SYN1 | c.1846C>T (p.Pro616Ser) c.70+550C>T (n.70+550C>T) | gnomAD v4 |
X | g.47574138G>C | CA412822385 | SYN1 | c.1846C>G (p.Pro616Ala) c.70+550C>G (n.70+550C>G) | |
X | g.47574138G>T | CA412822386 | SYN1 | c.1846C>A (p.Pro616Thr) c.70+550C>A (n.70+550C>A) | gnomAD v4 |
X | g.47574139T>A | CA516353386 | SYN1 | c.1845A>T (p.Pro615=) c.70+549A>T (n.70+549A>T) | |
X | g.47574139T>C | CA516353385 | SYN1 | c.1845A>G (p.Pro615=) c.70+549A>G (n.70+549A>G) | gnomAD v4 |
X | g.47574139T>G | CA516353384 | SYN1 | c.1845A>C (p.Pro615=) c.70+549A>C (n.70+549A>C) | |
X | g.47574140G>A | CA412822388 | SYN1 | c.1844C>T (p.Pro615Leu) c.70+548C>T (n.70+548C>T) | |
X | g.47574140G>C | CA412822390 | SYN1 | c.1844C>G (p.Pro615Arg) c.70+548C>G (n.70+548C>G) | |
X | g.47574140G>T | CA412822391 | SYN1 | c.1844C>A (p.Pro615Gln) c.70+548C>A (n.70+548C>A) | gnomAD v4 |
X | g.47574141G>A | CA412822393 | SYN1 | c.1843C>T (p.Pro615Ser) c.70+547C>T (n.70+547C>T) | gnomAD v4 |
X | g.47574141G>C | CA412822396 | SYN1 | c.1843C>G (p.Pro615Ala) c.70+547C>G (n.70+547C>G) | gnomAD v4 |
X | g.47574141G>T | CA412822394 | SYN1 | c.1843C>A (p.Pro615Thr) c.70+547C>A (n.70+547C>A) | gnomAD v4 |
X | g.47574142C>A | CA516353388 | SYN1 | c.1842G>T (p.Gly614=) c.70+546G>T (n.70+546G>T) | gnomAD v4 |
X | g.47574142C>G | CA516353389 | SYN1 | c.1842G>C (p.Gly614=) c.70+546G>C (n.70+546G>C) | |
X | g.47574142C>T | CA516353390 | SYN1 | c.1842G>A (p.Gly614=) c.70+546G>A (n.70+546G>A) | gnomAD v4 |
X | g.47574144del | CA2551079782 | SYN1 | c.1842del (p.Pro615HisfsTer?) c.70+546del (n.70+546del) | gnomAD v4 |
X | g.47574143C>A | CA412822398 | SYN1 | c.1841G>T (p.Gly614Val) c.70+545G>T (n.70+545G>T) | gnomAD v4 |
X | g.47574143C>G | CA412822399 | SYN1 | c.1841G>C (p.Gly614Ala) c.70+545G>C (n.70+545G>C) | gnomAD v4 |
X | g.47574143C>T | CA412822400 | SYN1 | c.1841G>A (p.Gly614Glu) c.70+545G>A (n.70+545G>A) | |
X | g.47574144C>A | CA412822402 | SYN1 | c.1840G>T (p.Gly614Trp) c.70+544G>T (n.70+544G>T) | gnomAD v4 |
X | g.47574144C>G | CA412822404 | SYN1 | c.1840G>C (p.Gly614Arg) c.70+544G>C (n.70+544G>C) | |
X | g.47574144C>T | CA412822405 | SYN1 | c.1840G>A (p.Gly614Arg) c.70+544G>A (n.70+544G>A) | gnomAD v4 |
X | g.47574145A>C | CA516353391 | SYN1 | c.1839T>G (p.Thr613=) c.70+543T>G (n.70+543T>G) | |
X | g.47574145A>G | CA516353392 | SYN1 | c.1839T>C (p.Thr613=) c.70+543T>C (n.70+543T>C) | gnomAD v4 |
X | g.47574145A>T | CA516353393 | SYN1 | c.1839T>A (p.Thr613=) c.70+543T>A (n.70+543T>A) | |
X | g.47574146G>A | CA412822410 | SYN1 | c.1838C>T (p.Thr613Ile) c.70+542C>T (n.70+542C>T) | gnomAD v4 |
X | g.47574146G>C | CA412822409 | SYN1 | c.1838C>G (p.Thr613Ser) c.70+542C>G (n.70+542C>G) | |
X | g.47574146G>T | CA412822407 | SYN1 | c.1838C>A (p.Thr613Asn) c.70+542C>A (n.70+542C>A) | gnomAD v4 |
X | g.47574147T>A | CA412822412 | SYN1 | c.1837A>T (p.Thr613Ser) c.70+541A>T (n.70+541A>T) | gnomAD v4 |
X | g.47574147T>C | CA412822413 | SYN1 | c.1837A>G (p.Thr613Ala) c.70+541A>G (n.70+541A>G) | |
X | g.47574147T>G | CA412822415 | SYN1 | c.1837A>C (p.Thr613Pro) c.70+541A>C (n.70+541A>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574147T= | CA2427971194 | SYN1 | c.1837A= (p.Thr613=) c.70+541A= (n.70+541A=) | |
X | g.47574148G>A | CA516353395 | SYN1 | c.1836C>T (p.Arg612=) c.70+540C>T (n.70+540C>T) | |
X | g.47574148G>C | CA516353396 | SYN1 | c.1836C>G (p.Arg612=) c.70+540C>G (n.70+540C>G) | |
X | g.47574148G>T | CA516353397 | SYN1 | c.1836C>A (p.Arg612=) c.70+540C>A (n.70+540C>A) | gnomAD v4 |
X | g.47574149del | CA2693584756 | SYN1 | c.1835del (p.Arg612ProfsTer?) c.70+539del (n.70+539del) | gnomAD v4 |
X | g.47574149C>A | CA412822417 | SYN1 | c.1835G>T (p.Arg612Leu) c.70+539G>T (n.70+539G>T) | gnomAD v4 |
X | g.47574149C= | CA2427971195 | SYN1 | c.1835G= (p.Arg612=) c.70+539G= (n.70+539G=) | |
X | g.47574149C>G | CA412822418 | SYN1 | c.1835G>C (p.Arg612Pro) c.70+539G>C (n.70+539G>C) | |
X | g.47574149C>T | CA412822419 | SYN1 | c.1835G>A (p.Arg612His) c.70+539G>A (n.70+539G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574150G>A | CA412822420 | SYN1 | c.1834C>T (p.Arg612Cys) c.70+538C>T (n.70+538C>T) | gnomAD v4 |
X | g.47574150G>C | CA412822424 | SYN1 | c.1834C>G (p.Arg612Gly) c.70+538C>G (n.70+538C>G) | |
X | g.47574150G>T | CA412822422 | SYN1 | c.1834C>A (p.Arg612Ser) c.70+538C>A (n.70+538C>A) | gnomAD v4 |
X | g.47574153del | CA2693584768 | SYN1 | c.1834del (p.Arg612AlafsTer?) c.70+538del (n.70+538del) | gnomAD v4 |
X | g.47574151G>A | CA516353398 | SYN1 | c.1833C>T (p.Pro611=) c.70+537C>T (n.70+537C>T) | gnomAD v4 |
X | g.47574151G>C | CA516353401 | SYN1 | c.1833C>G (p.Pro611=) c.70+537C>G (n.70+537C>G) | |
X | g.47574151G>T | CA516353399 | SYN1 | c.1833C>A (p.Pro611=) c.70+537C>A (n.70+537C>A) | gnomAD v4 |
X | g.47574152G>A | CA412822426 | SYN1 | c.1832C>T (p.Pro611Leu) c.70+536C>T (n.70+536C>T) | gnomAD v4 |
X | g.47574152G>C | CA412822427 | SYN1 | c.1832C>G (p.Pro611Arg) c.70+536C>G (n.70+536C>G) | |
X | g.47574152G>T | CA412822428 | SYN1 | c.1832C>A (p.Pro611His) c.70+536C>A (n.70+536C>A) | |
X | g.47574153G>A | CA412822430 | SYN1 | c.1831C>T (p.Pro611Ser) c.70+535C>T (n.70+535C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574153G>C | CA412822432 | SYN1 | c.1831C>G (p.Pro611Ala) c.70+535C>G (n.70+535C>G) | |
X | g.47574153G= | CA2427971196 | SYN1 | c.1831C= (p.Pro611=) c.70+535C= (n.70+535C=) | |
X | g.47574153G>T | CA412822433 | SYN1 | c.1831C>A (p.Pro611Thr) c.70+535C>A (n.70+535C>A) | gnomAD v4 |
X | g.47574154C>A | CA516353404 | SYN1 | c.1830G>T (p.Val610=) c.70+534G>T (n.70+534G>T) | gnomAD v4 |
X | g.47574154C>G | CA516353405 | SYN1 | c.1830G>C (p.Val610=) c.70+534G>C (n.70+534G>C) | |
X | g.47574154C>T | CA516353406 | SYN1 | c.1830G>A (p.Val610=) c.70+534G>A (n.70+534G>A) | gnomAD v4 |
X | g.47574155A>C | CA412822434 | SYN1 | c.1829T>G (p.Val610Gly) c.70+533T>G (n.70+533T>G) | |
X | g.47574155A>G | CA412822435 | SYN1 | c.1829T>C (p.Val610Ala) c.70+533T>C (n.70+533T>C) | |
X | g.47574155A>T | CA412822436 | SYN1 | c.1829T>A (p.Val610Glu) c.70+533T>A (n.70+533T>A) | |
X | g.47574156C>A | CA412822437 | SYN1 | c.1828G>T (p.Val610Leu) c.70+532G>T (n.70+532G>T) | gnomAD v4 |
X | g.47574156C>G | CA412822439 | SYN1 | c.1828G>C (p.Val610Leu) c.70+532G>C (n.70+532G>C) | |
X | g.47574156C>T | CA412822441 | SYN1 | c.1828G>A (p.Val610Met) c.70+532G>A (n.70+532G>A) | gnomAD v4 |
X | g.47574157G>A | CA516353408 | SYN1 | c.1827C>T (p.Pro609=) c.70+531C>T (n.70+531C>T) | gnomAD v4 |
X | g.47574157G>C | CA516353409 | SYN1 | c.1827C>G (p.Pro609=) c.70+531C>G (n.70+531C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574157G= | CA2427971197 | SYN1 | c.1827C= (p.Pro609=) c.70+531C= (n.70+531C=) | |
X | g.47574157G>T | CA516353410 | SYN1 | c.1827C>A (p.Pro609=) c.70+531C>A (n.70+531C>A) | gnomAD v4 |
X | g.47574158G>A | CA412822445 | SYN1 | c.1826C>T (p.Pro609Leu) c.70+530C>T (n.70+530C>T) | |
X | g.47574158G>C | CA412822443 | SYN1 | c.1826C>G (p.Pro609Arg) c.70+530C>G (n.70+530C>G) | |
X | g.47574158G>T | CA412822444 | SYN1 | c.1826C>A (p.Pro609His) c.70+530C>A (n.70+530C>A) | |
X | g.47574159G>A | CA412822447 | SYN1 | c.1825C>T (p.Pro609Ser) c.70+529C>T (n.70+529C>T) | gnomAD v4 |
X | g.47574159G>C | CA412822449 | SYN1 | c.1825C>G (p.Pro609Ala) c.70+529C>G (n.70+529C>G) | |
X | g.47574159G>T | CA412822450 | SYN1 | c.1825C>A (p.Pro609Thr) c.70+529C>A (n.70+529C>A) | gnomAD v4 |
X | g.47574160A>C | CA516353412 | SYN1 | c.1824T>G (p.Gly608=) c.70+528T>G (n.70+528T>G) | |
X | g.47574160A>G | CA516353413 | SYN1 | c.1824T>C (p.Gly608=) c.70+528T>C (n.70+528T>C) | gnomAD v4 |
X | g.47574160A>T | CA516353414 | SYN1 | c.1824T>A (p.Gly608=) c.70+528T>A (n.70+528T>A) | |
X | g.47574161C>A | CA412822452 | SYN1 | c.1823G>T (p.Gly608Val) c.70+527G>T (n.70+527G>T) | |
X | g.47574161C>G | CA412822453 | SYN1 | c.1823G>C (p.Gly608Ala) c.70+527G>C (n.70+527G>C) | gnomAD v4 |
X | g.47574161C>T | CA412822455 | SYN1 | c.1823G>A (p.Gly608Asp) c.70+527G>A (n.70+527G>A) | gnomAD v4 |
X | g.47574162C>A | CA329057198 | SYN1 | c.1822G>T (p.Gly608Cys) c.70+526G>T (n.70+526G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574162C= | CA2427971198 | SYN1 | c.1822G= (p.Gly608=) c.70+526G= (n.70+526G=) | |
X | g.47574162C>G | CA412822458 | SYN1 | c.1822G>C (p.Gly608Arg) c.70+526G>C (n.70+526G>C) | |
X | g.47574162C>T | CA412822459 | SYN1 | c.1822G>A (p.Gly608Ser) c.70+526G>A (n.70+526G>A) | gnomAD v4 |
X | g.47574163C>A | CA516353415 | SYN1 | c.1821G>T (p.Ala607=) c.70+525G>T (n.70+525G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574163C= | CA2427971199 | SYN1 | c.1821G= (p.Ala607=) c.70+525G= (n.70+525G=) | |
X | g.47574163C>G | CA516353416 | SYN1 | c.1821G>C (p.Ala607=) c.70+525G>C (n.70+525G>C) | |
X | g.47574163C>T | CA516353417 | SYN1 | c.1821G>A (p.Ala607=) c.70+525G>A (n.70+525G>A) | ClinVar gnomAD v4 |
X | g.47574164G>A | CA412822461 | SYN1 | c.1820C>T (p.Ala607Val) c.70+524C>T (n.70+524C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.47574164G>C | CA412822463 | SYN1 | c.1820C>G (p.Ala607Gly) c.70+524C>G (n.70+524C>G) | ClinVar gnomAD v4 |
X | g.47574164G= | CA2427971200 | SYN1 | c.1820C= (p.Ala607=) c.70+524C= (n.70+524C=) | |
X | g.47574164G>T | CA412822464 | SYN1 | c.1820C>A (p.Ala607Glu) c.70+524C>A (n.70+524C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574165C>A | CA412822470 | SYN1 | c.1819G>T (p.Ala607Ser) c.70+523G>T (n.70+523G>T) | |
X | g.47574165C= | CA2427971201 | SYN1 | c.1819G= (p.Ala607=) c.70+523G= (n.70+523G=) | |
X | g.47574165C>G | CA412822468 | SYN1 | c.1819G>C (p.Ala607Pro) c.70+523G>C (n.70+523G>C) | |
X | g.47574165C>T | CA412822466 | SYN1 | c.1819G>A (p.Ala607Thr) c.70+523G>A (n.70+523G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574166C>A | CA412822471 | SYN1 | c.1818G>T (p.Gln606His) c.70+522G>T (n.70+522G>T) | |
X | g.47574166C= | CA2427971202 | SYN1 | c.1818G= (p.Gln606=) c.70+522G= (n.70+522G=) | |
X | g.47574166C>G | CA412822473 | SYN1 | c.1818G>C (p.Gln606His) c.70+522G>C (n.70+522G>C) | gnomAD v4 |
X | g.47574166C>T | CA329057201 | SYN1 | c.1818G>A (p.Gln606=) c.70+522G>A (n.70+522G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574167T>A | CA412822475 | SYN1 | c.1817A>T (p.Gln606Leu) c.70+521A>T (n.70+521A>T) | |
X | g.47574167T>C | CA412822477 | SYN1 | c.1817A>G (p.Gln606Arg) c.70+521A>G (n.70+521A>G) | gnomAD v4 |
X | g.47574167T>G | CA412822478 | SYN1 | c.1817A>C (p.Gln606Pro) c.70+521A>C (n.70+521A>C) | |
X | g.47574168G>A | CA412822480 | SYN1 | c.1816C>T (p.Gln606Ter) c.70+520C>T (n.70+520C>T) | gnomAD v4 |
X | g.47574168G>C | CA412822482 | SYN1 | c.1816C>G (p.Gln606Glu) c.70+520C>G (n.70+520C>G) | |
X | g.47574168G>T | CA412822483 | SYN1 | c.1816C>A (p.Gln606Lys) c.70+520C>A (n.70+520C>A) | gnomAD v4 |
X | g.47574169G>A | CA516353422 | SYN1 | c.1815C>T (p.Ser605=) c.70+519C>T (n.70+519C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574169G>C | CA412822485 | SYN1 | c.1815C>G (p.Ser605Arg) c.70+519C>G (n.70+519C>G) | |
X | g.47574169G= | CA2427971203 | SYN1 | c.1815C= (p.Ser605=) c.70+519C= (n.70+519C=) | |
X | g.47574169G>T | CA412822486 | SYN1 | c.1815C>A (p.Ser605Arg) c.70+519C>A (n.70+519C>A) | gnomAD v4 |
X | g.47574170C>A | CA412822487 | SYN1 | c.1814G>T (p.Ser605Ile) c.70+518G>T (n.70+518G>T) | gnomAD v4 |
X | g.47574170C>G | CA412822489 | SYN1 | c.1814G>C (p.Ser605Thr) c.70+518G>C (n.70+518G>C) | |
X | g.47574170C>T | CA412822491 | SYN1 | c.1814G>A (p.Ser605Asn) c.70+518G>A (n.70+518G>A) | gnomAD v4 |
X | g.47574171T>A | CA412822494 | SYN1 | c.1813A>T (p.Ser605Cys) c.70+517A>T (n.70+517A>T) | |
X | g.47574171T>C | CA412822496 | SYN1 | c.1813A>G (p.Ser605Gly) c.70+517A>G (n.70+517A>G) | gnomAD v4 |
X | g.47574171T>G | CA412822493 | SYN1 | c.1813A>C (p.Ser605Arg) c.70+517A>C (n.70+517A>C) | ClinVar gnomAD v4 |
X | g.47574172G>A | CA516353426 | SYN1 | c.1812C>T (p.Ala604=) c.70+516C>T (n.70+516C>T) | gnomAD v4 |
X | g.47574172G>C | CA516353428 | SYN1 | c.1812C>G (p.Ala604=) c.70+516C>G (n.70+516C>G) | |
X | g.47574172G>T | CA516353430 | SYN1 | c.1812C>A (p.Ala604=) c.70+516C>A (n.70+516C>A) | |
X | g.47574173G>A | CA329057203 | SYN1 | c.1811C>T (p.Ala604Val) c.70+515C>T (n.70+515C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574173G>C | CA412822498 | SYN1 | c.1811C>G (p.Ala604Gly) c.70+515C>G (n.70+515C>G) | |
X | g.47574173G= | CA2427971204 | SYN1 | c.1811C= (p.Ala604=) c.70+515C= (n.70+515C=) | |
X | g.47574173G>T | CA412822500 | SYN1 | c.1811C>A (p.Ala604Asp) c.70+515C>A (n.70+515C>A) | gnomAD v4 |
X | g.47574174C>A | CA412822501 | SYN1 | c.1810G>T (p.Ala604Ser) c.70+514G>T (n.70+514G>T) | |
X | g.47574174C>G | CA412822503 | SYN1 | c.1810G>C (p.Ala604Pro) c.70+514G>C (n.70+514G>C) | |
X | g.47574174C>T | CA412822505 | SYN1 | c.1810G>A (p.Ala604Thr) c.70+514G>A (n.70+514G>A) | gnomAD v4 |
X | g.47574175C>A | CA412822508 | SYN1 | c.1809G>T (p.Gln603His) c.70+513G>T (n.70+513G>T) | gnomAD v4 |
X | g.47574175C>G | CA412822507 | SYN1 | c.1809G>C (p.Gln603His) c.70+513G>C (n.70+513G>C) | |
X | g.47574175C>T | CA516353431 | SYN1 | c.1809G>A (p.Gln603=) c.70+513G>A (n.70+513G>A) | gnomAD v4 |
X | g.47574176T>A | CA412822511 | SYN1 | c.1808A>T (p.Gln603Leu) c.70+512A>T (n.70+512A>T) | |
X | g.47574176T>C | CA412822512 | SYN1 | c.1808A>G (p.Gln603Arg) c.70+512A>G (n.70+512A>G) | gnomAD v4 |
X | g.47574176T>G | CA412822514 | SYN1 | c.1808A>C (p.Gln603Pro) c.70+512A>C (n.70+512A>C) | |
X | g.47574177G>A | CA412822515 | SYN1 | c.1807C>T (p.Gln603Ter) c.70+511C>T (n.70+511C>T) | |
X | g.47574177G>C | CA412822517 | SYN1 | c.1807C>G (p.Gln603Glu) c.70+511C>G (n.70+511C>G) | |
X | g.47574177G>T | CA412822519 | SYN1 | c.1807C>A (p.Gln603Lys) c.70+511C>A (n.70+511C>A) | gnomAD v4 |
X | g.47574178G>A | CA516353432 | SYN1 | c.1806C>T (p.Arg602=) c.70+510C>T (n.70+510C>T) | gnomAD v4 |
X | g.47574178G>C | CA516353434 | SYN1 | c.1806C>G (p.Arg602=) c.70+510C>G (n.70+510C>G) | |
X | g.47574178G>T | CA516353435 | SYN1 | c.1806C>A (p.Arg602=) c.70+510C>A (n.70+510C>A) | gnomAD v4 |
X | g.47574179C>A | CA412822523 | SYN1 | c.1805G>T (p.Arg602Leu) c.70+509G>T (n.70+509G>T) | gnomAD v4 |
X | g.47574179C>G | CA412822521 | SYN1 | c.1805G>C (p.Arg602Pro) c.70+509G>C (n.70+509G>C) | |
X | g.47574179C>T | CA412822522 | SYN1 | c.1805G>A (p.Arg602His) c.70+509G>A (n.70+509G>A) | gnomAD v4 |
X | g.47574180G>A | CA412822525 | SYN1 | c.1804C>T (p.Arg602Cys) c.70+508C>T (n.70+508C>T) | gnomAD v4 |
X | g.47574180G>C | CA412822527 | SYN1 | c.1804C>G (p.Arg602Gly) c.70+508C>G (n.70+508C>G) | |
X | g.47574180G>T | CA412822528 | SYN1 | c.1804C>A (p.Arg602Ser) c.70+508C>A (n.70+508C>A) | gnomAD v4 |
X | g.47574180_47574181delinsGT | CA2427971205 | SYN1 | c.1803_1804delinsAC (p.Thr601=) c.70+507_70+508delinsAC (n.70+507_70+508delinsAC) | |
X | g.47574181del | CA641900863 | SYN1 | c.1803del (p.Arg602AlafsTer?) c.70+507del (n.70+507del) | dbSNP gnomAD v2 |
X | g.47574181T>A | CA516353437 | SYN1 | c.1803A>T (p.Thr601=) c.70+507A>T (n.70+507A>T) | |
X | g.47574181T>C | CA516353438 | SYN1 | c.1803A>G (p.Thr601=) c.70+507A>G (n.70+507A>G) | gnomAD v4 |
X | g.47574181T>G | CA516353436 | SYN1 | c.1803A>C (p.Thr601=) c.70+507A>C (n.70+507A>C) | |
X | g.47574182G>A | CA412822529 | SYN1 | c.1802C>T (p.Thr601Ile) c.70+506C>T (n.70+506C>T) | gnomAD v4 |
X | g.47574182G>C | CA412822530 | SYN1 | c.1802C>G (p.Thr601Arg) c.70+506C>G (n.70+506C>G) | dbSNP gnomAD v2 |
X | g.47574182G= | CA2427971206 | SYN1 | c.1802C= (p.Thr601=) c.70+506C= (n.70+506C=) | |
X | g.47574182G>T | CA412822531 | SYN1 | c.1802C>A (p.Thr601Lys) c.70+506C>A (n.70+506C>A) | |
X | g.47574183T>A | CA412822532 | SYN1 | c.1801A>T (p.Thr601Ser) c.70+505A>T (n.70+505A>T) | |
X | g.47574183T>C | CA412822534 | SYN1 | c.1801A>G (p.Thr601Ala) c.70+505A>G (n.70+505A>G) | |
X | g.47574183T>G | CA412822536 | SYN1 | c.1801A>C (p.Thr601Pro) c.70+505A>C (n.70+505A>C) | |
X | g.47574183_47574184delinsTG | CA2427971207 | SYN1 | c.1800_1801delinsCA (p.Pro600=) c.70+504_70+505delinsCA (n.70+504_70+505delinsCA) | |
X | g.47574184G>A | CA516353439 | SYN1 | c.1800C>T (p.Pro600=) c.70+504C>T (n.70+504C>T) | |
X | g.47574184G>C | CA516353440 | SYN1 | c.1800C>G (p.Pro600=) c.70+504C>G (n.70+504C>G) | |
X | g.47574184G>T | CA516353442 | SYN1 | c.1800C>A (p.Pro600=) c.70+504C>A (n.70+504C>A) | |
X | g.47574187del | CA2427971208 | SYN1 | c.1800del (p.Thr601HisfsTer?) c.70+504del (n.70+504del) | dbSNP gnomAD v4 |
X | g.47574185G>A | CA412822537 | SYN1 | c.1799C>T (p.Pro600Leu) c.70+503C>T (n.70+503C>T) | gnomAD v4 |
X | g.47574185G>C | CA412822538 | SYN1 | c.1799C>G (p.Pro600Arg) c.70+503C>G (n.70+503C>G) | gnomAD v4 |
X | g.47574185G>T | CA412822540 | SYN1 | c.1799C>A (p.Pro600His) c.70+503C>A (n.70+503C>A) | gnomAD v4 COSMIC COSMIC |
X | g.47574185_47574188delinsGGGC | CA2427971209 | SYN1 | c.1796_1799delinsGCCC (p.Gly599=) c.70+500_70+503delinsGCCC (n.70+500_70+503delinsGCCC) | |
X | g.47574186G>A | CA412822542 | SYN1 | c.1798C>T (p.Pro600Ser) c.70+502C>T (n.70+502C>T) | gnomAD v4 |
X | g.47574186G>C | CA412822545 | SYN1 | c.1798C>G (p.Pro600Ala) c.70+502C>G (n.70+502C>G) | |
X | g.47574186G>T | CA412822544 | SYN1 | c.1798C>A (p.Pro600Thr) c.70+502C>A (n.70+502C>A) | gnomAD v4 |
X | g.47574186_47574188del | CA516353444 | SYN1 | c.1796_1798del (p.Gly599_Pro600delinsAla) c.70+500_70+502del (n.70+500_70+502del) | dbSNP |
X | g.47574187G>A | CA516353446 | SYN1 | c.1797C>T (p.Gly599=) c.70+501C>T (n.70+501C>T) | gnomAD v4 |
X | g.47574187G>C | CA516353449 | SYN1 | c.1797C>G (p.Gly599=) c.70+501C>G (n.70+501C>G) | gnomAD v4 |
X | g.47574187G>T | CA516353448 | SYN1 | c.1797C>A (p.Gly599=) c.70+501C>A (n.70+501C>A) | gnomAD v4 |
X | g.47574188_47574190del | CA412822546 | SYN1 | c.1795_1797del (p.Gly599del) c.70+499_70+501del (n.70+499_70+501del) | |
X | g.47574188C>A | CA412822548 | SYN1 | c.1796G>T (p.Gly599Val) c.70+500G>T (n.70+500G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574188C= | CA2427971210 | SYN1 | c.1796G= (p.Gly599=) c.70+500G= (n.70+500G=) | |
X | g.47574188C>G | CA412822549 | SYN1 | c.1796G>C (p.Gly599Ala) c.70+500G>C (n.70+500G>C) | gnomAD v4 |
X | g.47574188C>T | CA412822550 | SYN1 | c.1796G>A (p.Gly599Asp) c.70+500G>A (n.70+500G>A) | dbSNP gnomAD v4 |
X | g.47574189C>A | CA412822551 | SYN1 | c.1795G>T (p.Gly599Cys) c.70+499G>T (n.70+499G>T) | gnomAD v4 |
X | g.47574189C>G | CA412822553 | SYN1 | c.1795G>C (p.Gly599Arg) c.70+499G>C (n.70+499G>C) | |
X | g.47574189C>T | CA412822554 | SYN1 | c.1795G>A (p.Gly599Ser) c.70+499G>A (n.70+499G>A) | gnomAD v4 |
X | g.47574190G>A | CA516353451 | SYN1 | c.1794C>T (p.Ala598=) c.70+498C>T (n.70+498C>T) | dbSNP gnomAD v4 |
X | g.47574190G>C | CA516353452 | SYN1 | c.1794C>G (p.Ala598=) c.70+498C>G (n.70+498C>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574190G= | CA2427971211 | SYN1 | c.1794C= (p.Ala598=) c.70+498C= (n.70+498C=) | |
X | g.47574190G>T | CA516353453 | SYN1 | c.1794C>A (p.Ala598=) c.70+498C>A (n.70+498C>A) | |
X | g.47574191G>A | CA412822555 | SYN1 | c.1793C>T (p.Ala598Val) c.70+497C>T (n.70+497C>T) | dbSNP gnomAD v4 |
X | g.47574191G>C | CA412822556 | SYN1 | c.1793C>G (p.Ala598Gly) c.70+497C>G (n.70+497C>G) | |
X | g.47574191G= | CA2427971212 | SYN1 | c.1793C= (p.Ala598=) c.70+497C= (n.70+497C=) | |
X | g.47574191G>T | CA412822558 | SYN1 | c.1793C>A (p.Ala598Asp) c.70+497C>A (n.70+497C>A) | gnomAD v4 |
X | g.47574192C>A | CA412822559 | SYN1 | c.1792G>T (p.Ala598Ser) c.70+496G>T (n.70+496G>T) | gnomAD v4 |
X | g.47574192C>G | CA412822560 | SYN1 | c.1792G>C (p.Ala598Pro) c.70+496G>C (n.70+496G>C) | |
X | g.47574192C>T | CA412822562 | SYN1 | c.1792G>A (p.Ala598Thr) c.70+496G>A (n.70+496G>A) | gnomAD v4 |
X | g.47574193T>A | CA516353454 | SYN1 | c.1791A>T (p.Pro597=) c.70+495A>T (n.70+495A>T) | |
X | g.47574193T>C | CA516353455 | SYN1 | c.1791A>G (p.Pro597=) c.70+495A>G (n.70+495A>G) | ClinVar gnomAD v4 |
X | g.47574193T>G | CA516353456 | SYN1 | c.1791A>C (p.Pro597=) c.70+495A>C (n.70+495A>C) | |
X | g.47574194G>A | CA10398346 | SYN1 | c.1790C>T (p.Pro597Leu) c.70+494C>T (n.70+494C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.47574194G>C | CA412822566 | SYN1 | c.1790C>G (p.Pro597Arg) c.70+494C>G (n.70+494C>G) | |
X | g.47574194G= | CA2427971213 | SYN1 | c.1790C= (p.Pro597=) c.70+494C= (n.70+494C=) | |
X | g.47574194G>T | CA412822565 | SYN1 | c.1790C>A (p.Pro597Gln) c.70+494C>A (n.70+494C>A) | gnomAD v4 |
X | g.47574196del | CA2693584862 | SYN1 | c.1790del (p.Pro597GlnfsTer?) c.70+494del (n.70+494del) | gnomAD v4 |
X | g.47574195G>A | CA412822568 | SYN1 | c.1789C>T (p.Pro597Ser) c.70+493C>T (n.70+493C>T) | dbSNP gnomAD v4 |
X | g.47574195G>C | CA412822570 | SYN1 | c.1789C>G (p.Pro597Ala) c.70+493C>G (n.70+493C>G) | gnomAD v4 |
X | g.47574195G= | CA2427971214 | SYN1 | c.1789C= (p.Pro597=) c.70+493C= (n.70+493C=) | |
X | g.47574195G>T | CA412822571 | SYN1 | c.1789C>A (p.Pro597Thr) c.70+493C>A (n.70+493C>A) | gnomAD v4 |
X | g.47574196G>A | CA329057210 | SYN1 | c.1788C>T (p.Gly596=) c.70+492C>T (n.70+492C>T) | dbSNP gnomAD v4 |
X | g.47574196G>C | CA516353457 | SYN1 | c.1788C>G (p.Gly596=) c.70+492C>G (n.70+492C>G) | |
X | g.47574196G= | CA2427971215 | SYN1 | c.1788C= (p.Gly596=) c.70+492C= (n.70+492C=) | |
X | g.47574196G>T | CA516353458 | SYN1 | c.1788C>A (p.Gly596=) c.70+492C>A (n.70+492C>A) | dbSNP |
X | g.47574197C>A | CA412822574 | SYN1 | c.1787G>T (p.Gly596Val) c.70+491G>T (n.70+491G>T) | ClinVar dbSNP |
X | g.47574197C>G | CA412822575 | SYN1 | c.1787G>C (p.Gly596Ala) c.70+491G>C (n.70+491G>C) | |
X | g.47574197C>T | CA412822576 | SYN1 | c.1787G>A (p.Gly596Asp) c.70+491G>A (n.70+491G>A) | gnomAD v4 |
X | g.47574198C>A | CA412822578 | SYN1 | c.1786G>T (p.Gly596Cys) c.70+490G>T (n.70+490G>T) | gnomAD v4 |
X | g.47574198C>G | CA412822580 | SYN1 | c.1786G>C (p.Gly596Arg) c.70+490G>C (n.70+490G>C) | |
X | g.47574198C>T | CA412822582 | SYN1 | c.1786G>A (p.Gly596Ser) c.70+490G>A (n.70+490G>A) | |
X | g.47574199T>A | CA516353459 | SYN1 | c.1785A>T (p.Pro595=) c.70+489A>T (n.70+489A>T) | |
X | g.47574199T>C | CA516353460 | SYN1 | c.1785A>G (p.Pro595=) c.70+489A>G (n.70+489A>G) | gnomAD v4 |
X | g.47574199T>G | CA516353461 | SYN1 | c.1785A>C (p.Pro595=) c.70+489A>C (n.70+489A>C) | gnomAD v4 |
X | g.47574200G>A | CA412822586 | SYN1 | c.1784C>T (p.Pro595Leu) c.70+488C>T (n.70+488C>T) | gnomAD v4 |
X | g.47574200G>C | CA412822585 | SYN1 | c.1784C>G (p.Pro595Arg) c.70+488C>G (n.70+488C>G) | |
X | g.47574200G>T | CA412822583 | SYN1 | c.1784C>A (p.Pro595Gln) c.70+488C>A (n.70+488C>A) | gnomAD v4 |
X | g.47574204del | CA2693584880 | SYN1 | c.1784del (p.Pro595GlnfsTer?) c.70+488del (n.70+488del) | gnomAD v4 |
X | g.47574201G>A | CA412822588 | SYN1 | c.1783C>T (p.Pro595Ser) c.70+487C>T (n.70+487C>T) | |
X | g.47574201G>C | CA412822589 | SYN1 | c.1783C>G (p.Pro595Ala) c.70+487C>G (n.70+487C>G) | |
X | g.47574201G>T | CA412822590 | SYN1 | c.1783C>A (p.Pro595Thr) c.70+487C>A (n.70+487C>A) | |
X | g.47574202G>A | CA516353467 | SYN1 | c.1782C>T (p.Pro594=) c.70+486C>T (n.70+486C>T) | ClinVar dbSNP |
X | g.47574202G>C | CA516353466 | SYN1 | c.1782C>G (p.Pro594=) c.70+486C>G (n.70+486C>G) | |
X | g.47574202G>T | CA516353464 | SYN1 | c.1782C>A (p.Pro594=) c.70+486C>A (n.70+486C>A) | gnomAD v4 |
X | g.47574203G>A | CA412822592 | SYN1 | c.1781C>T (p.Pro594Leu) c.70+485C>T (n.70+485C>T) | |
X | g.47574203G>C | CA412822593 | SYN1 | c.1781C>G (p.Pro594Arg) c.70+485C>G (n.70+485C>G) | COSMIC COSMIC |
X | g.47574203G>T | CA412822595 | SYN1 | c.1781C>A (p.Pro594His) c.70+485C>A (n.70+485C>A) | gnomAD v4 |
X | g.47574204G>A | CA412822596 | SYN1 | c.1780C>T (p.Pro594Ser) c.70+484C>T (n.70+484C>T) | gnomAD v4 |
X | g.47574204G>C | CA412822598 | SYN1 | c.1780C>G (p.Pro594Ala) c.70+484C>G (n.70+484C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574204G= | CA2427971216 | SYN1 | c.1780C= (p.Pro594=) c.70+484C= (n.70+484C=) | |
X | g.47574204G>T | CA329057215 | SYN1 | c.1780C>A (p.Pro594Thr) c.70+484C>A (n.70+484C>A) | dbSNP |
X | g.47574205T>A | CA412822600 | SYN1 | c.1779A>T (p.Lys593Asn) c.70+483A>T (n.70+483A>T) | |
X | g.47574205T>C | CA516353471 | SYN1 | c.1779A>G (p.Lys593=) c.70+483A>G (n.70+483A>G) | gnomAD v4 |
X | g.47574205T>G | CA329057229 | SYN1 | c.1779A>C (p.Lys593Asn) c.70+483A>C (n.70+483A>C) | dbSNP gnomAD v4 |
X | g.47574205T= | CA2427971217 | SYN1 | c.1779A= (p.Lys593=) c.70+483A= (n.70+483A=) | |
X | g.47574206T>A | CA412822602 | SYN1 | c.1778A>T (p.Lys593Ile) c.70+482A>T (n.70+482A>T) | |
X | g.47574206T>C | CA412822603 | SYN1 | c.1778A>G (p.Lys593Arg) c.70+482A>G (n.70+482A>G) | |
X | g.47574206T>G | CA412822605 | SYN1 | c.1778A>C (p.Lys593Thr) c.70+482A>C (n.70+482A>C) | |
X | g.47574207T>A | CA412822609 | SYN1 | c.1777A>T (p.Lys593Ter) c.70+481A>T (n.70+481A>T) | |
X | g.47574207T>C | CA412822608 | SYN1 | c.1777A>G (p.Lys593Glu) c.70+481A>G (n.70+481A>G) | gnomAD v4 |
X | g.47574207T>G | CA412822607 | SYN1 | c.1777A>C (p.Lys593Gln) c.70+481A>C (n.70+481A>C) | |
X | g.47574208C>A | CA412822610 | SYN1 | c.1776G>T (p.Gln592His) c.70+480G>T (n.70+480G>T) | gnomAD v4 |
X | g.47574208C>G | CA412822611 | SYN1 | c.1776G>C (p.Gln592His) c.70+480G>C (n.70+480G>C) | |
X | g.47574208C>T | CA516353479 | SYN1 | c.1776G>A (p.Gln592=) c.70+480G>A (n.70+480G>A) | |
X | g.47574209T>A | CA412822613 | SYN1 | c.1775A>T (p.Gln592Leu) c.70+479A>T (n.70+479A>T) | |
X | g.47574209T>C | CA412822615 | SYN1 | c.1775A>G (p.Gln592Arg) c.70+479A>G (n.70+479A>G) | gnomAD v4 |
X | g.47574209T>G | CA412822617 | SYN1 | c.1775A>C (p.Gln592Pro) c.70+479A>C (n.70+479A>C) | |
X | g.47574210G>A | CA412822618 | SYN1 | c.1774C>T (p.Gln592Ter) c.70+478C>T (n.70+478C>T) | gnomAD v4 |
X | g.47574210G>C | CA412822620 | SYN1 | c.1774C>G (p.Gln592Glu) c.70+478C>G (n.70+478C>G) | |
X | g.47574210G>T | CA412822621 | SYN1 | c.1774C>A (p.Gln592Lys) c.70+478C>A (n.70+478C>A) | |
X | g.47574213del | CA2693584906 | SYN1 | c.1774del (p.Gln592ArgfsTer?) c.70+478del (n.70+478del) | gnomAD v4 |
X | g.47574211G>A | CA516353482 | SYN1 | c.1773C>T (p.Pro591=) c.70+477C>T (n.70+477C>T) | |
X | g.47574211G>C | CA516353484 | SYN1 | c.1773C>G (p.Pro591=) c.70+477C>G (n.70+477C>G) | |
X | g.47574211G>T | CA516353486 | SYN1 | c.1773C>A (p.Pro591=) c.70+477C>A (n.70+477C>A) | gnomAD v4 |
X | g.47574212G>A | CA412822623 | SYN1 | c.1772C>T (p.Pro591Leu) c.70+476C>T (n.70+476C>T) | gnomAD v4 |
X | g.47574212G>C | CA412822625 | SYN1 | c.1772C>G (p.Pro591Arg) c.70+476C>G (n.70+476C>G) | |
X | g.47574212G>T | CA412822626 | SYN1 | c.1772C>A (p.Pro591His) c.70+476C>A (n.70+476C>A) | |
X | g.47574213G>A | CA412822628 | SYN1 | c.1771C>T (p.Pro591Ser) c.70+475C>T (n.70+475C>T) | gnomAD v4 |
X | g.47574213G>C | CA412822630 | SYN1 | c.1771C>G (p.Pro591Ala) c.70+475C>G (n.70+475C>G) | |
X | g.47574213G>T | CA412822631 | SYN1 | c.1771C>A (p.Pro591Thr) c.70+475C>A (n.70+475C>A) | gnomAD v4 |
X | g.47574215_47574226dup | CA2695233455 | SYN1 | c.1760_1771dup (p.Pro590_Pro591insArgGlnGlyPro) c.70+464_70+475dup (n.70+464_70+475dup) | |
X | g.47574214C>A | CA516353490 | SYN1 | c.1770G>T (p.Pro590=) c.70+474G>T (n.70+474G>T) | gnomAD v4 |
X | g.47574214C= | CA2427971218 | SYN1 | c.1770G= (p.Pro590=) c.70+474G= (n.70+474G=) | |
X | g.47574214C>G | CA516353491 | SYN1 | c.1770G>C (p.Pro590=) c.70+474G>C (n.70+474G>C) | |
X | g.47574214C>T | CA516353494 | SYN1 | c.1770G>A (p.Pro590=) c.70+474G>A (n.70+474G>A) | dbSNP gnomAD v4 |
X | g.47574215G>A | CA412822634 | SYN1 | c.1769C>T (p.Pro590Leu) c.70+473C>T (n.70+473C>T) | gnomAD v4 |
X | g.47574215G>C | CA412822635 | SYN1 | c.1769C>G (p.Pro590Arg) c.70+473C>G (n.70+473C>G) | |
X | g.47574215G>T | CA412822633 | SYN1 | c.1769C>A (p.Pro590Gln) c.70+473C>A (n.70+473C>A) | gnomAD v4 |
X | g.47574216G>A | CA412822637 | SYN1 | c.1768C>T (p.Pro590Ser) c.70+472C>T (n.70+472C>T) | gnomAD v4 |
X | g.47574216G>C | CA412822638 | SYN1 | c.1768C>G (p.Pro590Ala) c.70+472C>G (n.70+472C>G) | |
X | g.47574216G>T | CA412822639 | SYN1 | c.1768C>A (p.Pro590Thr) c.70+472C>A (n.70+472C>A) | |
X | g.47574217G>A | CA516353499 | SYN1 | c.1767C>T (p.Gly589=) c.70+471C>T (n.70+471C>T) | gnomAD v4 |
X | g.47574217G>C | CA516353500 | SYN1 | c.1767C>G (p.Gly589=) c.70+471C>G (n.70+471C>G) | |
X | g.47574217G>T | CA516353501 | SYN1 | c.1767C>A (p.Gly589=) c.70+471C>A (n.70+471C>A) | gnomAD v4 |
X | g.47574218C>A | CA412822641 | SYN1 | c.1766G>T (p.Gly589Val) c.70+470G>T (n.70+470G>T) | dbSNP gnomAD v4 |
X | g.47574218C= | CA2427971219 | SYN1 | c.1766G= (p.Gly589=) c.70+470G= (n.70+470G=) | |
X | g.47574218C>G | CA412822642 | SYN1 | c.1766G>C (p.Gly589Ala) c.70+470G>C (n.70+470G>C) | |
X | g.47574218C>T | CA412822643 | SYN1 | c.1766G>A (p.Gly589Asp) c.70+470G>A (n.70+470G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574220del | CA2512474855 | SYN1 | c.1766del (p.Gly589AlafsTer?) c.70+470del (n.70+470del) | |
X | g.47574218_47574219insAGCAGCG | CA2820775721 | SYN1 | c.1765_1766insCGCTGCT (p.Gly589AlafsTer?) c.70+469_70+470insCGCTGCT (n.70+469_70+470insCGCTGCT) | |
X | g.47574219C>A | CA412822648 | SYN1 | c.1765G>T (p.Gly589Cys) c.70+469G>T (n.70+469G>T) | gnomAD v4 |
X | g.47574219C>G | CA412822645 | SYN1 | c.1765G>C (p.Gly589Arg) c.70+469G>C (n.70+469G>C) | |
X | g.47574219C>T | CA412822646 | SYN1 | c.1765G>A (p.Gly589Ser) c.70+469G>A (n.70+469G>A) | ClinVar |
X | g.47574229_47574321del | CA2693584929 | SYN1 | c.1673_1765del (p.Ala558_Gln588del) c.70+377_70+469del (n.70+377_70+469del) | gnomAD v4 |
X | g.47574220C>A | CA412822649 | SYN1 | c.1764G>T (p.Gln588His) c.70+468G>T (n.70+468G>T) | gnomAD v4 |
X | g.47574220C= | CA2427971220 | SYN1 | c.1764G= (p.Gln588=) c.70+468G= (n.70+468G=) | |
X | g.47574220C>G | CA412822651 | SYN1 | c.1764G>C (p.Gln588His) c.70+468G>C (n.70+468G>C) | |
X | g.47574220C>T | CA516353504 | SYN1 | c.1764G>A (p.Gln588=) c.70+468G>A (n.70+468G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574221T>A | CA412822652 | SYN1 | c.1763A>T (p.Gln588Leu) c.70+467A>T (n.70+467A>T) | gnomAD v4 |
X | g.47574221T>C | CA412822653 | SYN1 | c.1763A>G (p.Gln588Arg) c.70+467A>G (n.70+467A>G) | gnomAD v4 |
X | g.47574221T>G | CA412822655 | SYN1 | c.1763A>C (p.Gln588Pro) c.70+467A>C (n.70+467A>C) | gnomAD v4 |
X | g.47574222G>A | CA412822656 | SYN1 | c.1762C>T (p.Gln588Ter) c.70+466C>T (n.70+466C>T) | |
X | g.47574222G>C | CA412822659 | SYN1 | c.1762C>G (p.Gln588Glu) c.70+466C>G (n.70+466C>G) | |
X | g.47574222G>T | CA412822658 | SYN1 | c.1762C>A (p.Gln588Lys) c.70+466C>A (n.70+466C>A) | gnomAD v4 |
X | g.47574223del | CA2693584941 | SYN1 | c.1762del (p.Gln588ArgfsTer?) c.70+466del (n.70+466del) | gnomAD v4 |
X | g.47574223G>A | CA516353687 | SYN1 | c.1761C>T (p.Arg587=) c.70+465C>T (n.70+465C>T) | gnomAD v4 |
X | g.47574223G>C | CA516353686 | SYN1 | c.1761C>G (p.Arg587=) c.70+465C>G (n.70+465C>G) | |
X | g.47574223G>T | CA516353684 | SYN1 | c.1761C>A (p.Arg587=) c.70+465C>A (n.70+465C>A) | gnomAD v4 |
X | g.47574224C>A | CA412822660 | SYN1 | c.1760G>T (p.Arg587Leu) c.70+464G>T (n.70+464G>T) | gnomAD v4 |
X | g.47574224C= | CA2427971221 | SYN1 | c.1760G= (p.Arg587=) c.70+464G= (n.70+464G=) | |
X | g.47574224C>G | CA412822662 | SYN1 | c.1760G>C (p.Arg587Pro) c.70+464G>C (n.70+464G>C) | |
X | g.47574224C>T | CA412822664 | SYN1 | c.1760G>A (p.Arg587His) c.70+464G>A (n.70+464G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574225G>A | CA412822665 | SYN1 | c.1759C>T (p.Arg587Cys) c.70+463C>T (n.70+463C>T) | ClinVar gnomAD v4 |
X | g.47574225G>C | CA412822667 | SYN1 | c.1759C>G (p.Arg587Gly) c.70+463C>G (n.70+463C>G) | |
X | g.47574225G>T | CA412822668 | SYN1 | c.1759C>A (p.Arg587Ser) c.70+463C>A (n.70+463C>A) | gnomAD v4 |
X | g.47574226C>A | CA412822670 | SYN1 | c.1758G>T (p.Gln586His) c.70+462G>T (n.70+462G>T) | gnomAD v4 |
X | g.47574226C>G | CA412822672 | SYN1 | c.1758G>C (p.Gln586His) c.70+462G>C (n.70+462G>C) | |
X | g.47574226C>T | CA516353696 | SYN1 | c.1758G>A (p.Gln586=) c.70+462G>A (n.70+462G>A) | gnomAD v4 |
X | g.47574227T>A | CA412822674 | SYN1 | c.1757A>T (p.Gln586Leu) c.70+461A>T (n.70+461A>T) | gnomAD v4 |
X | g.47574227T>C | CA412822675 | SYN1 | c.1757A>G (p.Gln586Arg) c.70+461A>G (n.70+461A>G) | gnomAD v4 |
X | g.47574227T>G | CA412822677 | SYN1 | c.1757A>C (p.Gln586Pro) c.70+461A>C (n.70+461A>C) | |
X | g.47574228G>A | CA412822681 | SYN1 | c.1756C>T (p.Gln586Ter) c.70+460C>T (n.70+460C>T) | gnomAD v4 |
X | g.47574228G>C | CA412822679 | SYN1 | c.1756C>G (p.Gln586Glu) c.70+460C>G (n.70+460C>G) | |
X | g.47574228G= | CA2427971222 | SYN1 | c.1756C= (p.Gln586=) c.70+460C= (n.70+460C=) | |
X | g.47574228G>T | CA412822680 | SYN1 | c.1756C>A (p.Gln586Lys) c.70+460C>A (n.70+460C>A) | dbSNP gnomAD v4 |
X | g.47574228_47574229insGGGGC | CA2820775722 | SYN1 | c.1755_1756insGCCCC (p.Gln586AlafsTer?) c.70+459_70+460insGCCCC (n.70+459_70+460insGCCCC) | |
X | g.47574229C>A | CA412822683 | SYN1 | c.1755G>T (p.Gln585His) c.70+459G>T (n.70+459G>T) | gnomAD v4 |
X | g.47574229C>G | CA412822684 | SYN1 | c.1755G>C (p.Gln585His) c.70+459G>C (n.70+459G>C) | gnomAD v4 |
X | g.47574229C>T | CA516353707 | SYN1 | c.1755G>A (p.Gln585=) c.70+459G>A (n.70+459G>A) | gnomAD v4 |
X | g.47574229_47574241del | CA2521737594 | SYN1 | c.1743_1755del (p.Pro582SerfsTer?) c.70+447_70+459del (n.70+447_70+459del) | |
X | g.47574230T>A | CA412822686 | SYN1 | c.1754A>T (p.Gln585Leu) c.70+458A>T (n.70+458A>T) | |
X | g.47574230T>C | CA412822687 | SYN1 | c.1754A>G (p.Gln585Arg) c.70+458A>G (n.70+458A>G) | ClinVar gnomAD v4 |
X | g.47574230T>G | CA412822688 | SYN1 | c.1754A>C (p.Gln585Pro) c.70+458A>C (n.70+458A>C) | gnomAD v4 |
X | g.47574231G>A | CA412822690 | SYN1 | c.1753C>T (p.Gln585Ter) c.70+457C>T (n.70+457C>T) | gnomAD v4 |
X | g.47574231G>C | CA412822692 | SYN1 | c.1753C>G (p.Gln585Glu) c.70+457C>G (n.70+457C>G) | |
X | g.47574231G>T | CA412822693 | SYN1 | c.1753C>A (p.Gln585Lys) c.70+457C>A (n.70+457C>A) | gnomAD v4 |
X | g.47574232C>A | CA516353711 | SYN1 | c.1752G>T (p.Gly584=) c.70+456G>T (n.70+456G>T) | dbSNP gnomAD v4 |
X | g.47574232C= | CA2427971223 | SYN1 | c.1752G= (p.Gly584=) c.70+456G= (n.70+456G=) | |
X | g.47574232C>G | CA516353712 | SYN1 | c.1752G>C (p.Gly584=) c.70+456G>C (n.70+456G>C) | gnomAD v4 |
X | g.47574232C>T | CA516353713 | SYN1 | c.1752G>A (p.Gly584=) c.70+456G>A (n.70+456G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574233C>A | CA412822694 | SYN1 | c.1751G>T (p.Gly584Val) c.70+455G>T (n.70+455G>T) | gnomAD v4 |
X | g.47574233C>G | CA412822695 | SYN1 | c.1751G>C (p.Gly584Ala) c.70+455G>C (n.70+455G>C) | gnomAD v4 |
X | g.47574233C>T | CA412822696 | SYN1 | c.1751G>A (p.Gly584Glu) c.70+455G>A (n.70+455G>A) | gnomAD v4 |
X | g.47574234C>A | CA412822698 | SYN1 | c.1750G>T (p.Gly584Trp) c.70+454G>T (n.70+454G>T) | gnomAD v4 |
X | g.47574234C>G | CA412822700 | SYN1 | c.1750G>C (p.Gly584Arg) c.70+454G>C (n.70+454G>C) | |
X | g.47574234C>T | CA412822701 | SYN1 | c.1750G>A (p.Gly584Arg) c.70+454G>A (n.70+454G>A) | gnomAD v4 |