Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574082_47574194delCA2580101019SYN1c.1794_1906del (p.Thr601GlufsTer?)
c.70+498_70+610del (n.70+498_70+610del)
 ClinVar
Xg.47574170C>ACA412822487SYN1c.1814G>T (p.Ser605Ile)
c.70+518G>T (n.70+518G>T)
 gnomAD v4
Xg.47574170C>GCA412822489SYN1c.1814G>C (p.Ser605Thr)
c.70+518G>C (n.70+518G>C)
Xg.47574170C>TCA412822491SYN1c.1814G>A (p.Ser605Asn)
c.70+518G>A (n.70+518G>A)
 gnomAD v4
Xg.47574171T>ACA412822494SYN1c.1813A>T (p.Ser605Cys)
c.70+517A>T (n.70+517A>T)
Xg.47574171T>CCA412822496SYN1c.1813A>G (p.Ser605Gly)
c.70+517A>G (n.70+517A>G)
 gnomAD v4
Xg.47574171T>GCA412822493SYN1c.1813A>C (p.Ser605Arg)
c.70+517A>C (n.70+517A>C)
 ClinVar gnomAD v4
Xg.47574172G>ACA516353426SYN1c.1812C>T (p.Ala604=)
c.70+516C>T (n.70+516C>T)
 gnomAD v4
Xg.47574172G>CCA516353428SYN1c.1812C>G (p.Ala604=)
c.70+516C>G (n.70+516C>G)
Xg.47574172G>TCA516353430SYN1c.1812C>A (p.Ala604=)
c.70+516C>A (n.70+516C>A)
Xg.47574173G>ACA329057203SYN1c.1811C>T (p.Ala604Val)
c.70+515C>T (n.70+515C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574173G>CCA412822498SYN1c.1811C>G (p.Ala604Gly)
c.70+515C>G (n.70+515C>G)
Xg.47574173G=CA2427971204SYN1c.1811C= (p.Ala604=)
c.70+515C= (n.70+515C=)
Xg.47574173G>TCA412822500SYN1c.1811C>A (p.Ala604Asp)
c.70+515C>A (n.70+515C>A)
 gnomAD v4
Xg.47574174C>ACA412822501SYN1c.1810G>T (p.Ala604Ser)
c.70+514G>T (n.70+514G>T)
Xg.47574174C>GCA412822503SYN1c.1810G>C (p.Ala604Pro)
c.70+514G>C (n.70+514G>C)
Xg.47574174C>TCA412822505SYN1c.1810G>A (p.Ala604Thr)
c.70+514G>A (n.70+514G>A)
 gnomAD v4
Xg.47574175C>ACA412822508SYN1c.1809G>T (p.Gln603His)
c.70+513G>T (n.70+513G>T)
 gnomAD v4
Xg.47574175C>GCA412822507SYN1c.1809G>C (p.Gln603His)
c.70+513G>C (n.70+513G>C)
Xg.47574175C>TCA516353431SYN1c.1809G>A (p.Gln603=)
c.70+513G>A (n.70+513G>A)
 gnomAD v4
Xg.47574176T>ACA412822511SYN1c.1808A>T (p.Gln603Leu)
c.70+512A>T (n.70+512A>T)
Xg.47574176T>CCA412822512SYN1c.1808A>G (p.Gln603Arg)
c.70+512A>G (n.70+512A>G)
 gnomAD v4
Xg.47574176T>GCA412822514SYN1c.1808A>C (p.Gln603Pro)
c.70+512A>C (n.70+512A>C)
Xg.47574177G>ACA412822515SYN1c.1807C>T (p.Gln603Ter)
c.70+511C>T (n.70+511C>T)
Xg.47574177G>CCA412822517SYN1c.1807C>G (p.Gln603Glu)
c.70+511C>G (n.70+511C>G)
Xg.47574177G>TCA412822519SYN1c.1807C>A (p.Gln603Lys)
c.70+511C>A (n.70+511C>A)
 gnomAD v4
Xg.47574178G>ACA516353432SYN1c.1806C>T (p.Arg602=)
c.70+510C>T (n.70+510C>T)
 gnomAD v4
Xg.47574178G>CCA516353434SYN1c.1806C>G (p.Arg602=)
c.70+510C>G (n.70+510C>G)
Xg.47574178G>TCA516353435SYN1c.1806C>A (p.Arg602=)
c.70+510C>A (n.70+510C>A)
 gnomAD v4
Xg.47574179C>ACA412822523SYN1c.1805G>T (p.Arg602Leu)
c.70+509G>T (n.70+509G>T)
 gnomAD v4
Xg.47574179C>GCA412822521SYN1c.1805G>C (p.Arg602Pro)
c.70+509G>C (n.70+509G>C)
Xg.47574179C>TCA412822522SYN1c.1805G>A (p.Arg602His)
c.70+509G>A (n.70+509G>A)
 gnomAD v4
Xg.47574180G>ACA412822525SYN1c.1804C>T (p.Arg602Cys)
c.70+508C>T (n.70+508C>T)
 gnomAD v4
Xg.47574180G>CCA412822527SYN1c.1804C>G (p.Arg602Gly)
c.70+508C>G (n.70+508C>G)
Xg.47574180G>TCA412822528SYN1c.1804C>A (p.Arg602Ser)
c.70+508C>A (n.70+508C>A)
 gnomAD v4
Xg.47574180_47574181delinsGTCA2427971205SYN1c.1803_1804delinsAC (p.Thr601=)
c.70+507_70+508delinsAC (n.70+507_70+508delinsAC)
Xg.47574181delCA641900863SYN1c.1803del (p.Arg602AlafsTer?)
c.70+507del (n.70+507del)
 dbSNP gnomAD v2
Xg.47574181T>ACA516353437SYN1c.1803A>T (p.Thr601=)
c.70+507A>T (n.70+507A>T)
Xg.47574181T>CCA516353438SYN1c.1803A>G (p.Thr601=)
c.70+507A>G (n.70+507A>G)
 gnomAD v4
Xg.47574181T>GCA516353436SYN1c.1803A>C (p.Thr601=)
c.70+507A>C (n.70+507A>C)
Xg.47574182G>ACA412822529SYN1c.1802C>T (p.Thr601Ile)
c.70+506C>T (n.70+506C>T)
 gnomAD v4
Xg.47574182G>CCA412822530SYN1c.1802C>G (p.Thr601Arg)
c.70+506C>G (n.70+506C>G)
 dbSNP gnomAD v2
Xg.47574182G=CA2427971206SYN1c.1802C= (p.Thr601=)
c.70+506C= (n.70+506C=)
Xg.47574182G>TCA412822531SYN1c.1802C>A (p.Thr601Lys)
c.70+506C>A (n.70+506C>A)
Xg.47574183T>ACA412822532SYN1c.1801A>T (p.Thr601Ser)
c.70+505A>T (n.70+505A>T)
Xg.47574183T>CCA412822534SYN1c.1801A>G (p.Thr601Ala)
c.70+505A>G (n.70+505A>G)
Xg.47574183T>GCA412822536SYN1c.1801A>C (p.Thr601Pro)
c.70+505A>C (n.70+505A>C)
Xg.47574183_47574184delinsTGCA2427971207SYN1c.1800_1801delinsCA (p.Pro600=)
c.70+504_70+505delinsCA (n.70+504_70+505delinsCA)
Xg.47574184G>ACA516353439SYN1c.1800C>T (p.Pro600=)
c.70+504C>T (n.70+504C>T)
Xg.47574184G>CCA516353440SYN1c.1800C>G (p.Pro600=)
c.70+504C>G (n.70+504C>G)
Xg.47574184G>TCA516353442SYN1c.1800C>A (p.Pro600=)
c.70+504C>A (n.70+504C>A)
Xg.47574187delCA2427971208SYN1c.1800del (p.Thr601HisfsTer?)
c.70+504del (n.70+504del)
 dbSNP gnomAD v4
Xg.47574185G>ACA412822537SYN1c.1799C>T (p.Pro600Leu)
c.70+503C>T (n.70+503C>T)
 gnomAD v4
Xg.47574185G>CCA412822538SYN1c.1799C>G (p.Pro600Arg)
c.70+503C>G (n.70+503C>G)
 gnomAD v4
Xg.47574185G>TCA412822540SYN1c.1799C>A (p.Pro600His)
c.70+503C>A (n.70+503C>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574185_47574188delinsGGGCCA2427971209SYN1c.1796_1799delinsGCCC (p.Gly599=)
c.70+500_70+503delinsGCCC (n.70+500_70+503delinsGCCC)
Xg.47574186G>ACA412822542SYN1c.1798C>T (p.Pro600Ser)
c.70+502C>T (n.70+502C>T)
 gnomAD v4
Xg.47574186G>CCA412822545SYN1c.1798C>G (p.Pro600Ala)
c.70+502C>G (n.70+502C>G)
Xg.47574186G>TCA412822544SYN1c.1798C>A (p.Pro600Thr)
c.70+502C>A (n.70+502C>A)
 gnomAD v4
Xg.47574186_47574188delCA516353444SYN1c.1796_1798del (p.Gly599_Pro600delinsAla)
c.70+500_70+502del (n.70+500_70+502del)
 dbSNP
Xg.47574187G>ACA516353446SYN1c.1797C>T (p.Gly599=)
c.70+501C>T (n.70+501C>T)
 gnomAD v4
Xg.47574187G>CCA516353449SYN1c.1797C>G (p.Gly599=)
c.70+501C>G (n.70+501C>G)
 gnomAD v4
Xg.47574187G>TCA516353448SYN1c.1797C>A (p.Gly599=)
c.70+501C>A (n.70+501C>A)
 gnomAD v4
Xg.47574188_47574190delCA412822546SYN1c.1795_1797del (p.Gly599del)
c.70+499_70+501del (n.70+499_70+501del)
Xg.47574188C>ACA412822548SYN1c.1796G>T (p.Gly599Val)
c.70+500G>T (n.70+500G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574188C=CA2427971210SYN1c.1796G= (p.Gly599=)
c.70+500G= (n.70+500G=)
Xg.47574188C>GCA412822549SYN1c.1796G>C (p.Gly599Ala)
c.70+500G>C (n.70+500G>C)
 gnomAD v4
Xg.47574188C>TCA412822550SYN1c.1796G>A (p.Gly599Asp)
c.70+500G>A (n.70+500G>A)
 dbSNP gnomAD v4
Xg.47574189C>ACA412822551SYN1c.1795G>T (p.Gly599Cys)
c.70+499G>T (n.70+499G>T)
 gnomAD v4
Xg.47574189C>GCA412822553SYN1c.1795G>C (p.Gly599Arg)
c.70+499G>C (n.70+499G>C)
Xg.47574189C>TCA412822554SYN1c.1795G>A (p.Gly599Ser)
c.70+499G>A (n.70+499G>A)
 gnomAD v4
Xg.47574190G>ACA516353451SYN1c.1794C>T (p.Ala598=)
c.70+498C>T (n.70+498C>T)
 dbSNP gnomAD v4
Xg.47574190G>CCA516353452SYN1c.1794C>G (p.Ala598=)
c.70+498C>G (n.70+498C>G)
 ClinVar dbSNP gnomAD v4
Xg.47574190G=CA2427971211SYN1c.1794C= (p.Ala598=)
c.70+498C= (n.70+498C=)
Xg.47574190G>TCA516353453SYN1c.1794C>A (p.Ala598=)
c.70+498C>A (n.70+498C>A)
Xg.47574191G>ACA412822555SYN1c.1793C>T (p.Ala598Val)
c.70+497C>T (n.70+497C>T)
 dbSNP gnomAD v4
Xg.47574191G>CCA412822556SYN1c.1793C>G (p.Ala598Gly)
c.70+497C>G (n.70+497C>G)
Xg.47574191G=CA2427971212SYN1c.1793C= (p.Ala598=)
c.70+497C= (n.70+497C=)
Xg.47574191G>TCA412822558SYN1c.1793C>A (p.Ala598Asp)
c.70+497C>A (n.70+497C>A)
 gnomAD v4
Xg.47574192C>ACA412822559SYN1c.1792G>T (p.Ala598Ser)
c.70+496G>T (n.70+496G>T)
 gnomAD v4
Xg.47574192C>GCA412822560SYN1c.1792G>C (p.Ala598Pro)
c.70+496G>C (n.70+496G>C)
Xg.47574192C>TCA412822562SYN1c.1792G>A (p.Ala598Thr)
c.70+496G>A (n.70+496G>A)
 gnomAD v4
Xg.47574193T>ACA516353454SYN1c.1791A>T (p.Pro597=)
c.70+495A>T (n.70+495A>T)
Xg.47574193T>CCA516353455SYN1c.1791A>G (p.Pro597=)
c.70+495A>G (n.70+495A>G)
 ClinVar gnomAD v4
Xg.47574193T>GCA516353456SYN1c.1791A>C (p.Pro597=)
c.70+495A>C (n.70+495A>C)
Xg.47574194G>ACA10398346SYN1c.1790C>T (p.Pro597Leu)
c.70+494C>T (n.70+494C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.47574194G>CCA412822566SYN1c.1790C>G (p.Pro597Arg)
c.70+494C>G (n.70+494C>G)
Xg.47574194G=CA2427971213SYN1c.1790C= (p.Pro597=)
c.70+494C= (n.70+494C=)
Xg.47574194G>TCA412822565SYN1c.1790C>A (p.Pro597Gln)
c.70+494C>A (n.70+494C>A)
 gnomAD v4
Xg.47574196delCA2693584862SYN1c.1790del (p.Pro597GlnfsTer?)
c.70+494del (n.70+494del)
 gnomAD v4
Xg.47574195G>ACA412822568SYN1c.1789C>T (p.Pro597Ser)
c.70+493C>T (n.70+493C>T)
 dbSNP gnomAD v4
Xg.47574195G>CCA412822570SYN1c.1789C>G (p.Pro597Ala)
c.70+493C>G (n.70+493C>G)
 gnomAD v4
Xg.47574195G=CA2427971214SYN1c.1789C= (p.Pro597=)
c.70+493C= (n.70+493C=)
Xg.47574195G>TCA412822571SYN1c.1789C>A (p.Pro597Thr)
c.70+493C>A (n.70+493C>A)
 gnomAD v4
Xg.47574196G>ACA329057210SYN1c.1788C>T (p.Gly596=)
c.70+492C>T (n.70+492C>T)
 dbSNP gnomAD v4
Xg.47574196G>CCA516353457SYN1c.1788C>G (p.Gly596=)
c.70+492C>G (n.70+492C>G)
Xg.47574196G=CA2427971215SYN1c.1788C= (p.Gly596=)
c.70+492C= (n.70+492C=)
Xg.47574196G>TCA516353458SYN1c.1788C>A (p.Gly596=)
c.70+492C>A (n.70+492C>A)
 dbSNP
Xg.47574197C>ACA412822574SYN1c.1787G>T (p.Gly596Val)
c.70+491G>T (n.70+491G>T)
 ClinVar dbSNP
Xg.47574197C>GCA412822575SYN1c.1787G>C (p.Gly596Ala)
c.70+491G>C (n.70+491G>C)
Xg.47574197C>TCA412822576SYN1c.1787G>A (p.Gly596Asp)
c.70+491G>A (n.70+491G>A)
 gnomAD v4
Xg.47574198C>ACA412822578SYN1c.1786G>T (p.Gly596Cys)
c.70+490G>T (n.70+490G>T)
 gnomAD v4
Xg.47574198C>GCA412822580SYN1c.1786G>C (p.Gly596Arg)
c.70+490G>C (n.70+490G>C)
Xg.47574198C>TCA412822582SYN1c.1786G>A (p.Gly596Ser)
c.70+490G>A (n.70+490G>A)
Xg.47574199T>ACA516353459SYN1c.1785A>T (p.Pro595=)
c.70+489A>T (n.70+489A>T)
Xg.47574199T>CCA516353460SYN1c.1785A>G (p.Pro595=)
c.70+489A>G (n.70+489A>G)
 gnomAD v4
Xg.47574199T>GCA516353461SYN1c.1785A>C (p.Pro595=)
c.70+489A>C (n.70+489A>C)
 gnomAD v4
Xg.47574200G>ACA412822586SYN1c.1784C>T (p.Pro595Leu)
c.70+488C>T (n.70+488C>T)
 gnomAD v4
Xg.47574200G>CCA412822585SYN1c.1784C>G (p.Pro595Arg)
c.70+488C>G (n.70+488C>G)
Xg.47574200G>TCA412822583SYN1c.1784C>A (p.Pro595Gln)
c.70+488C>A (n.70+488C>A)
 gnomAD v4
Xg.47574204delCA2693584880SYN1c.1784del (p.Pro595GlnfsTer?)
c.70+488del (n.70+488del)
 gnomAD v4
Xg.47574201G>ACA412822588SYN1c.1783C>T (p.Pro595Ser)
c.70+487C>T (n.70+487C>T)
Xg.47574201G>CCA412822589SYN1c.1783C>G (p.Pro595Ala)
c.70+487C>G (n.70+487C>G)
Xg.47574201G>TCA412822590SYN1c.1783C>A (p.Pro595Thr)
c.70+487C>A (n.70+487C>A)
Xg.47574202G>ACA516353467SYN1c.1782C>T (p.Pro594=)
c.70+486C>T (n.70+486C>T)
 ClinVar dbSNP
Xg.47574202G>CCA516353466SYN1c.1782C>G (p.Pro594=)
c.70+486C>G (n.70+486C>G)
Xg.47574202G>TCA516353464SYN1c.1782C>A (p.Pro594=)
c.70+486C>A (n.70+486C>A)
 gnomAD v4
Xg.47574203G>ACA412822592SYN1c.1781C>T (p.Pro594Leu)
c.70+485C>T (n.70+485C>T)
Xg.47574203G>CCA412822593SYN1c.1781C>G (p.Pro594Arg)
c.70+485C>G (n.70+485C>G)
 COSMIC COSMIC
Xg.47574203G>TCA412822595SYN1c.1781C>A (p.Pro594His)
c.70+485C>A (n.70+485C>A)
 gnomAD v4
Xg.47574204G>ACA412822596SYN1c.1780C>T (p.Pro594Ser)
c.70+484C>T (n.70+484C>T)
 gnomAD v4
Xg.47574204G>CCA412822598SYN1c.1780C>G (p.Pro594Ala)
c.70+484C>G (n.70+484C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574204G=CA2427971216SYN1c.1780C= (p.Pro594=)
c.70+484C= (n.70+484C=)
Xg.47574204G>TCA329057215SYN1c.1780C>A (p.Pro594Thr)
c.70+484C>A (n.70+484C>A)
 dbSNP
Xg.47574205T>ACA412822600SYN1c.1779A>T (p.Lys593Asn)
c.70+483A>T (n.70+483A>T)
Xg.47574205T>CCA516353471SYN1c.1779A>G (p.Lys593=)
c.70+483A>G (n.70+483A>G)
 gnomAD v4
Xg.47574205T>GCA329057229SYN1c.1779A>C (p.Lys593Asn)
c.70+483A>C (n.70+483A>C)
 dbSNP gnomAD v4
Xg.47574205T=CA2427971217SYN1c.1779A= (p.Lys593=)
c.70+483A= (n.70+483A=)
Xg.47574206T>ACA412822602SYN1c.1778A>T (p.Lys593Ile)
c.70+482A>T (n.70+482A>T)
Xg.47574206T>CCA412822603SYN1c.1778A>G (p.Lys593Arg)
c.70+482A>G (n.70+482A>G)
Xg.47574206T>GCA412822605SYN1c.1778A>C (p.Lys593Thr)
c.70+482A>C (n.70+482A>C)
Xg.47574207T>ACA412822609SYN1c.1777A>T (p.Lys593Ter)
c.70+481A>T (n.70+481A>T)
Xg.47574207T>CCA412822608SYN1c.1777A>G (p.Lys593Glu)
c.70+481A>G (n.70+481A>G)
 gnomAD v4
Xg.47574207T>GCA412822607SYN1c.1777A>C (p.Lys593Gln)
c.70+481A>C (n.70+481A>C)
Xg.47574208C>ACA412822610SYN1c.1776G>T (p.Gln592His)
c.70+480G>T (n.70+480G>T)
 gnomAD v4
Xg.47574208C>GCA412822611SYN1c.1776G>C (p.Gln592His)
c.70+480G>C (n.70+480G>C)
Xg.47574208C>TCA516353479SYN1c.1776G>A (p.Gln592=)
c.70+480G>A (n.70+480G>A)
Xg.47574209T>ACA412822613SYN1c.1775A>T (p.Gln592Leu)
c.70+479A>T (n.70+479A>T)
Xg.47574209T>CCA412822615SYN1c.1775A>G (p.Gln592Arg)
c.70+479A>G (n.70+479A>G)
 gnomAD v4
Xg.47574209T>GCA412822617SYN1c.1775A>C (p.Gln592Pro)
c.70+479A>C (n.70+479A>C)
Xg.47574210G>ACA412822618SYN1c.1774C>T (p.Gln592Ter)
c.70+478C>T (n.70+478C>T)
 gnomAD v4
Xg.47574210G>CCA412822620SYN1c.1774C>G (p.Gln592Glu)
c.70+478C>G (n.70+478C>G)
Xg.47574210G>TCA412822621SYN1c.1774C>A (p.Gln592Lys)
c.70+478C>A (n.70+478C>A)
Xg.47574213delCA2693584906SYN1c.1774del (p.Gln592ArgfsTer?)
c.70+478del (n.70+478del)
 gnomAD v4
Xg.47574211G>ACA516353482SYN1c.1773C>T (p.Pro591=)
c.70+477C>T (n.70+477C>T)
Xg.47574211G>CCA516353484SYN1c.1773C>G (p.Pro591=)
c.70+477C>G (n.70+477C>G)
Xg.47574211G>TCA516353486SYN1c.1773C>A (p.Pro591=)
c.70+477C>A (n.70+477C>A)
 gnomAD v4
Xg.47574212G>ACA412822623SYN1c.1772C>T (p.Pro591Leu)
c.70+476C>T (n.70+476C>T)
 gnomAD v4
Xg.47574212G>CCA412822625SYN1c.1772C>G (p.Pro591Arg)
c.70+476C>G (n.70+476C>G)
Xg.47574212G>TCA412822626SYN1c.1772C>A (p.Pro591His)
c.70+476C>A (n.70+476C>A)
Xg.47574213G>ACA412822628SYN1c.1771C>T (p.Pro591Ser)
c.70+475C>T (n.70+475C>T)
 gnomAD v4
Xg.47574213G>CCA412822630SYN1c.1771C>G (p.Pro591Ala)
c.70+475C>G (n.70+475C>G)
Xg.47574213G>TCA412822631SYN1c.1771C>A (p.Pro591Thr)
c.70+475C>A (n.70+475C>A)
 gnomAD v4
Xg.47574215_47574226dupCA2695233455SYN1c.1760_1771dup (p.Pro590_Pro591insArgGlnGlyPro)
c.70+464_70+475dup (n.70+464_70+475dup)
Xg.47574214C>ACA516353490SYN1c.1770G>T (p.Pro590=)
c.70+474G>T (n.70+474G>T)
 gnomAD v4
Xg.47574214C=CA2427971218SYN1c.1770G= (p.Pro590=)
c.70+474G= (n.70+474G=)
Xg.47574214C>GCA516353491SYN1c.1770G>C (p.Pro590=)
c.70+474G>C (n.70+474G>C)
Xg.47574214C>TCA516353494SYN1c.1770G>A (p.Pro590=)
c.70+474G>A (n.70+474G>A)
 dbSNP gnomAD v4
Xg.47574215G>ACA412822634SYN1c.1769C>T (p.Pro590Leu)
c.70+473C>T (n.70+473C>T)
 gnomAD v4
Xg.47574215G>CCA412822635SYN1c.1769C>G (p.Pro590Arg)
c.70+473C>G (n.70+473C>G)
Xg.47574215G>TCA412822633SYN1c.1769C>A (p.Pro590Gln)
c.70+473C>A (n.70+473C>A)
 gnomAD v4
Xg.47574216G>ACA412822637SYN1c.1768C>T (p.Pro590Ser)
c.70+472C>T (n.70+472C>T)
 gnomAD v4
Xg.47574216G>CCA412822638SYN1c.1768C>G (p.Pro590Ala)
c.70+472C>G (n.70+472C>G)
Xg.47574216G>TCA412822639SYN1c.1768C>A (p.Pro590Thr)
c.70+472C>A (n.70+472C>A)
Xg.47574217G>ACA516353499SYN1c.1767C>T (p.Gly589=)
c.70+471C>T (n.70+471C>T)
 gnomAD v4
Xg.47574217G>CCA516353500SYN1c.1767C>G (p.Gly589=)
c.70+471C>G (n.70+471C>G)
Xg.47574217G>TCA516353501SYN1c.1767C>A (p.Gly589=)
c.70+471C>A (n.70+471C>A)
 gnomAD v4
Xg.47574218C>ACA412822641SYN1c.1766G>T (p.Gly589Val)
c.70+470G>T (n.70+470G>T)
 dbSNP gnomAD v4
Xg.47574218C=CA2427971219SYN1c.1766G= (p.Gly589=)
c.70+470G= (n.70+470G=)
Xg.47574218C>GCA412822642SYN1c.1766G>C (p.Gly589Ala)
c.70+470G>C (n.70+470G>C)
Xg.47574218C>TCA412822643SYN1c.1766G>A (p.Gly589Asp)
c.70+470G>A (n.70+470G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574220delCA2512474855SYN1c.1766del (p.Gly589AlafsTer?)
c.70+470del (n.70+470del)
Xg.47574218_47574219insAGCAGCGCA2820775721SYN1c.1765_1766insCGCTGCT (p.Gly589AlafsTer?)
c.70+469_70+470insCGCTGCT (n.70+469_70+470insCGCTGCT)
Xg.47574219C>ACA412822648SYN1c.1765G>T (p.Gly589Cys)
c.70+469G>T (n.70+469G>T)
 gnomAD v4
Xg.47574219C>GCA412822645SYN1c.1765G>C (p.Gly589Arg)
c.70+469G>C (n.70+469G>C)
Xg.47574219C>TCA412822646SYN1c.1765G>A (p.Gly589Ser)
c.70+469G>A (n.70+469G>A)
 ClinVar
Xg.47574229_47574321delCA2693584929SYN1c.1673_1765del (p.Ala558_Gln588del)
c.70+377_70+469del (n.70+377_70+469del)
 gnomAD v4
Xg.47574220C>ACA412822649SYN1c.1764G>T (p.Gln588His)
c.70+468G>T (n.70+468G>T)
 gnomAD v4
Xg.47574220C=CA2427971220SYN1c.1764G= (p.Gln588=)
c.70+468G= (n.70+468G=)
Xg.47574220C>GCA412822651SYN1c.1764G>C (p.Gln588His)
c.70+468G>C (n.70+468G>C)
Xg.47574220C>TCA516353504SYN1c.1764G>A (p.Gln588=)
c.70+468G>A (n.70+468G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574221T>ACA412822652SYN1c.1763A>T (p.Gln588Leu)
c.70+467A>T (n.70+467A>T)
 gnomAD v4
Xg.47574221T>CCA412822653SYN1c.1763A>G (p.Gln588Arg)
c.70+467A>G (n.70+467A>G)
 gnomAD v4
Xg.47574221T>GCA412822655SYN1c.1763A>C (p.Gln588Pro)
c.70+467A>C (n.70+467A>C)
 gnomAD v4
Xg.47574222G>ACA412822656SYN1c.1762C>T (p.Gln588Ter)
c.70+466C>T (n.70+466C>T)
Xg.47574222G>CCA412822659SYN1c.1762C>G (p.Gln588Glu)
c.70+466C>G (n.70+466C>G)
Xg.47574222G>TCA412822658SYN1c.1762C>A (p.Gln588Lys)
c.70+466C>A (n.70+466C>A)
 gnomAD v4
Xg.47574223delCA2693584941SYN1c.1762del (p.Gln588ArgfsTer?)
c.70+466del (n.70+466del)
 gnomAD v4
Xg.47574223G>ACA516353687SYN1c.1761C>T (p.Arg587=)
c.70+465C>T (n.70+465C>T)
 gnomAD v4
Xg.47574223G>CCA516353686SYN1c.1761C>G (p.Arg587=)
c.70+465C>G (n.70+465C>G)
Xg.47574223G>TCA516353684SYN1c.1761C>A (p.Arg587=)
c.70+465C>A (n.70+465C>A)
 gnomAD v4
Xg.47574224C>ACA412822660SYN1c.1760G>T (p.Arg587Leu)
c.70+464G>T (n.70+464G>T)
 gnomAD v4
Xg.47574224C=CA2427971221SYN1c.1760G= (p.Arg587=)
c.70+464G= (n.70+464G=)
Xg.47574224C>GCA412822662SYN1c.1760G>C (p.Arg587Pro)
c.70+464G>C (n.70+464G>C)
Xg.47574224C>TCA412822664SYN1c.1760G>A (p.Arg587His)
c.70+464G>A (n.70+464G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574225G>ACA412822665SYN1c.1759C>T (p.Arg587Cys)
c.70+463C>T (n.70+463C>T)
 ClinVar gnomAD v4
Xg.47574225G>CCA412822667SYN1c.1759C>G (p.Arg587Gly)
c.70+463C>G (n.70+463C>G)
Xg.47574225G>TCA412822668SYN1c.1759C>A (p.Arg587Ser)
c.70+463C>A (n.70+463C>A)
 gnomAD v4
Xg.47574226C>ACA412822670SYN1c.1758G>T (p.Gln586His)
c.70+462G>T (n.70+462G>T)
 gnomAD v4
Xg.47574226C>GCA412822672SYN1c.1758G>C (p.Gln586His)
c.70+462G>C (n.70+462G>C)
Xg.47574226C>TCA516353696SYN1c.1758G>A (p.Gln586=)
c.70+462G>A (n.70+462G>A)
 gnomAD v4
Xg.47574227T>ACA412822674SYN1c.1757A>T (p.Gln586Leu)
c.70+461A>T (n.70+461A>T)
 gnomAD v4
Xg.47574227T>CCA412822675SYN1c.1757A>G (p.Gln586Arg)
c.70+461A>G (n.70+461A>G)
 gnomAD v4
Xg.47574227T>GCA412822677SYN1c.1757A>C (p.Gln586Pro)
c.70+461A>C (n.70+461A>C)
Xg.47574228G>ACA412822681SYN1c.1756C>T (p.Gln586Ter)
c.70+460C>T (n.70+460C>T)
 gnomAD v4
Xg.47574228G>CCA412822679SYN1c.1756C>G (p.Gln586Glu)
c.70+460C>G (n.70+460C>G)
Xg.47574228G=CA2427971222SYN1c.1756C= (p.Gln586=)
c.70+460C= (n.70+460C=)
Xg.47574228G>TCA412822680SYN1c.1756C>A (p.Gln586Lys)
c.70+460C>A (n.70+460C>A)
 dbSNP gnomAD v4
Xg.47574228_47574229insGGGGCCA2820775722SYN1c.1755_1756insGCCCC (p.Gln586AlafsTer?)
c.70+459_70+460insGCCCC (n.70+459_70+460insGCCCC)
Xg.47574229C>ACA412822683SYN1c.1755G>T (p.Gln585His)
c.70+459G>T (n.70+459G>T)
 gnomAD v4
Xg.47574229C>GCA412822684SYN1c.1755G>C (p.Gln585His)
c.70+459G>C (n.70+459G>C)
 gnomAD v4
Xg.47574229C>TCA516353707SYN1c.1755G>A (p.Gln585=)
c.70+459G>A (n.70+459G>A)
 gnomAD v4
Xg.47574229_47574241delCA2521737594SYN1c.1743_1755del (p.Pro582SerfsTer?)
c.70+447_70+459del (n.70+447_70+459del)
Xg.47574230T>ACA412822686SYN1c.1754A>T (p.Gln585Leu)
c.70+458A>T (n.70+458A>T)
Xg.47574230T>CCA412822687SYN1c.1754A>G (p.Gln585Arg)
c.70+458A>G (n.70+458A>G)
 ClinVar gnomAD v4
Xg.47574230T>GCA412822688SYN1c.1754A>C (p.Gln585Pro)
c.70+458A>C (n.70+458A>C)
 gnomAD v4
Xg.47574231G>ACA412822690SYN1c.1753C>T (p.Gln585Ter)
c.70+457C>T (n.70+457C>T)
 gnomAD v4
Xg.47574231G>CCA412822692SYN1c.1753C>G (p.Gln585Glu)
c.70+457C>G (n.70+457C>G)
Xg.47574231G>TCA412822693SYN1c.1753C>A (p.Gln585Lys)
c.70+457C>A (n.70+457C>A)
 gnomAD v4
Xg.47574232C>ACA516353711SYN1c.1752G>T (p.Gly584=)
c.70+456G>T (n.70+456G>T)
 dbSNP gnomAD v4
Xg.47574232C=CA2427971223SYN1c.1752G= (p.Gly584=)
c.70+456G= (n.70+456G=)
Xg.47574232C>GCA516353712SYN1c.1752G>C (p.Gly584=)
c.70+456G>C (n.70+456G>C)
 gnomAD v4
Xg.47574232C>TCA516353713SYN1c.1752G>A (p.Gly584=)
c.70+456G>A (n.70+456G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574233C>ACA412822694SYN1c.1751G>T (p.Gly584Val)
c.70+455G>T (n.70+455G>T)
 gnomAD v4
Xg.47574233C>GCA412822695SYN1c.1751G>C (p.Gly584Ala)
c.70+455G>C (n.70+455G>C)
 gnomAD v4
Xg.47574233C>TCA412822696SYN1c.1751G>A (p.Gly584Glu)
c.70+455G>A (n.70+455G>A)
 gnomAD v4
Xg.47574234C>ACA412822698SYN1c.1750G>T (p.Gly584Trp)
c.70+454G>T (n.70+454G>T)
 gnomAD v4
Xg.47574234C>GCA412822700SYN1c.1750G>C (p.Gly584Arg)
c.70+454G>C (n.70+454G>C)
Xg.47574234C>TCA412822701SYN1c.1750G>A (p.Gly584Arg)
c.70+454G>A (n.70+454G>A)
 gnomAD v4
Xg.47574235delCA2693585004SYN1c.1749del (p.Gln585SerfsTer?)
c.70+453del (n.70+453del)
 gnomAD v4
Xg.47574235G>ACA516353718SYN1c.1749C>T (p.Gly583=)
c.70+453C>T (n.70+453C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574235G>CCA516353719SYN1c.1749C>G (p.Gly583=)
c.70+453C>G (n.70+453C>G)
Xg.47574235G=CA2427971224SYN1c.1749C= (p.Gly583=)
c.70+453C= (n.70+453C=)
Xg.47574235G>TCA516353721SYN1c.1749C>A (p.Gly583=)
c.70+453C>A (n.70+453C>A)
 gnomAD v4
Xg.47574236C>ACA412822706SYN1c.1748G>T (p.Gly583Val)
c.70+452G>T (n.70+452G>T)
 gnomAD v4
Xg.47574236C=CA2427971225SYN1c.1748G= (p.Gly583=)
c.70+452G= (n.70+452G=)
Xg.47574236C>GCA412822703SYN1c.1748G>C (p.Gly583Ala)
c.70+452G>C (n.70+452G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574236C>TCA412822704SYN1c.1748G>A (p.Gly583Asp)
c.70+452G>A (n.70+452G>A)
Xg.47574238delCA2693585009SYN1c.1748del (p.Gly583AlafsTer?)
c.70+452del (n.70+452del)
 gnomAD v4
Xg.47574237C>ACA412822708SYN1c.1747G>T (p.Gly583Cys)
c.70+451G>T (n.70+451G>T)
 gnomAD v4
Xg.47574237C=CA2427971226SYN1c.1747G= (p.Gly583=)
c.70+451G= (n.70+451G=)
Xg.47574237C>GCA412822710SYN1c.1747G>C (p.Gly583Arg)
c.70+451G>C (n.70+451G>C)
 gnomAD v4
Xg.47574237C>TCA412822711SYN1c.1747G>A (p.Gly583Ser)
c.70+451G>A (n.70+451G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574238C>ACA516353729SYN1c.1746G>T (p.Pro582=)
c.70+450G>T (n.70+450G>T)
 gnomAD v4
Xg.47574238C>GCA516353730SYN1c.1746G>C (p.Pro582=)
c.70+450G>C (n.70+450G>C)
Xg.47574238C>TCA516353731SYN1c.1746G>A (p.Pro582=)
c.70+450G>A (n.70+450G>A)
 gnomAD v4
Xg.47574239G>ACA412822712SYN1c.1745C>T (p.Pro582Leu)
c.70+449C>T (n.70+449C>T)
 dbSNP gnomAD v4
Xg.47574239G>CCA412822714SYN1c.1745C>G (p.Pro582Arg)
c.70+449C>G (n.70+449C>G)
Xg.47574239G=CA2427971227SYN1c.1745C= (p.Pro582=)
c.70+449C= (n.70+449C=)
Xg.47574239G>TCA412822716SYN1c.1745C>A (p.Pro582Gln)
c.70+449C>A (n.70+449C>A)
 gnomAD v4
Xg.47574240G>ACA412822717SYN1c.1744C>T (p.Pro582Ser)
c.70+448C>T (n.70+448C>T)
 gnomAD v4
Xg.47574240G>CCA412822719SYN1c.1744C>G (p.Pro582Ala)
c.70+448C>G (n.70+448C>G)
Xg.47574240G>TCA412822720SYN1c.1744C>A (p.Pro582Thr)
c.70+448C>A (n.70+448C>A)
 gnomAD v4
Xg.47574241T>ACA516353737SYN1c.1743A>T (p.Pro581=)
c.70+447A>T (n.70+447A>T)
Xg.47574241T>CCA516353736SYN1c.1743A>G (p.Pro581=)
c.70+447A>G (n.70+447A>G)
 gnomAD v4
Xg.47574241T>GCA516353735SYN1c.1743A>C (p.Pro581=)
c.70+447A>C (n.70+447A>C)
Xg.47574242G>ACA412822721SYN1c.1742C>T (p.Pro581Leu)
c.70+446C>T (n.70+446C>T)
 gnomAD v4
Xg.47574242G>CCA412822722SYN1c.1742C>G (p.Pro581Arg)
c.70+446C>G (n.70+446C>G)
Xg.47574242G>TCA412822724SYN1c.1742C>A (p.Pro581Gln)
c.70+446C>A (n.70+446C>A)
 gnomAD v4
Xg.47574245delCA2693585042SYN1c.1742del (p.Pro581HisfsTer?)
c.70+446del (n.70+446del)
 gnomAD v4
Xg.47574243G>ACA412822727SYN1c.1741C>T (p.Pro581Ser)
c.70+445C>T (n.70+445C>T)
 gnomAD v4
Xg.47574243G>CCA412822726SYN1c.1741C>G (p.Pro581Ala)
c.70+445C>G (n.70+445C>G)
Xg.47574243G>TCA412822725SYN1c.1741C>A (p.Pro581Thr)
c.70+445C>A (n.70+445C>A)
 gnomAD v4
Xg.47574244G>ACA516353746SYN1c.1740C>T (p.Ala580=)
c.70+444C>T (n.70+444C>T)
 gnomAD v4
Xg.47574244G>CCA516353748SYN1c.1740C>G (p.Ala580=)
c.70+444C>G (n.70+444C>G)
Xg.47574244G>TCA516353749SYN1c.1740C>A (p.Ala580=)
c.70+444C>A (n.70+444C>A)
 gnomAD v4
Xg.47574245G>ACA412822731SYN1c.1739C>T (p.Ala580Val)
c.70+443C>T (n.70+443C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574245G>CCA412822728SYN1c.1739C>G (p.Ala580Gly)
c.70+443C>G (n.70+443C>G)
Xg.47574245G=CA2427971228SYN1c.1739C= (p.Ala580=)
c.70+443C= (n.70+443C=)
Xg.47574245G>TCA412822730SYN1c.1739C>A (p.Ala580Asp)
c.70+443C>A (n.70+443C>A)
 gnomAD v4
Xg.47574245_47574246delinsGCCA2427971229SYN1c.1738_1739delinsGC (p.Ala580=)
c.70+442_70+443delinsGC (n.70+442_70+443delinsGC)
Xg.47574246C>ACA412822733SYN1c.1738G>T (p.Ala580Ser)
c.70+442G>T (n.70+442G>T)
 gnomAD v4
Xg.47574246C>GCA412822734SYN1c.1738G>C (p.Ala580Pro)
c.70+442G>C (n.70+442G>C)
Xg.47574246C>TCA412822735SYN1c.1738G>A (p.Ala580Thr)
c.70+442G>A (n.70+442G>A)
 gnomAD v4
Xg.47574249delCA641900873SYN1c.1738del (p.Ala580ProfsTer?)
c.70+442del (n.70+442del)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574247C>ACA516353754SYN1c.1737G>T (p.Gly579=)
c.70+441G>T (n.70+441G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574247C=CA2427971230SYN1c.1737G= (p.Gly579=)
c.70+441G= (n.70+441G=)
Xg.47574247C>GCA516353757SYN1c.1737G>C (p.Gly579=)
c.70+441G>C (n.70+441G>C)
Xg.47574247C>TCA516353755SYN1c.1737G>A (p.Gly579=)
c.70+441G>A (n.70+441G>A)
 gnomAD v4
Xg.47574248C>ACA412822741SYN1c.1736G>T (p.Gly579Val)
c.70+440G>T (n.70+440G>T)
 gnomAD v4
Xg.47574248C=CA2427971231SYN1c.1736G= (p.Gly579=)
c.70+440G= (n.70+440G=)
Xg.47574248C>GCA412822739SYN1c.1736G>C (p.Gly579Ala)
c.70+440G>C (n.70+440G>C)
Xg.47574248C>TCA412822737SYN1c.1736G>A (p.Gly579Glu)
c.70+440G>A (n.70+440G>A)
 dbSNP gnomAD v4
Xg.47574249C>ACA412822742SYN1c.1735G>T (p.Gly579Trp)
c.70+439G>T (n.70+439G>T)
 gnomAD v4
Xg.47574249C=CA2427971232SYN1c.1735G= (p.Gly579=)
c.70+439G= (n.70+439G=)
Xg.47574249C>GCA412822743SYN1c.1735G>C (p.Gly579Arg)
c.70+439G>C (n.70+439G>C)
Xg.47574249C>TCA412822745SYN1c.1735G>A (p.Gly579Arg)
c.70+439G>A (n.70+439G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574250A=CA2427971233SYN1c.1734T= (p.Ser578=)
c.70+438T= (n.70+438T=)
Xg.47574250A>CCA516353764SYN1c.1734T>G (p.Ser578=)
c.70+438T>G (n.70+438T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574250A>GCA516353765SYN1c.1734T>C (p.Ser578=)
c.70+438T>C (n.70+438T>C)
 dbSNP gnomAD v4
Xg.47574250A>TCA516353766SYN1c.1734T>A (p.Ser578=)
c.70+438T>A (n.70+438T>A)
Xg.47574251G>ACA412822747SYN1c.1733C>T (p.Ser578Phe)
c.70+437C>T (n.70+437C>T)
Xg.47574251G>CCA412822748SYN1c.1733C>G (p.Ser578Cys)
c.70+437C>G (n.70+437C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574251G=CA2427971234SYN1c.1733C= (p.Ser578=)
c.70+437C= (n.70+437C=)
Xg.47574251G>TCA412822749SYN1c.1733C>A (p.Ser578Tyr)
c.70+437C>A (n.70+437C>A)
 gnomAD v4
Xg.47574252A=CA2427971235SYN1c.1732T= (p.Ser578=)
c.70+436T= (n.70+436T=)
Xg.47574252A>CCA412822751SYN1c.1732T>G (p.Ser578Ala)
c.70+436T>G (n.70+436T>G)
Xg.47574252A>GCA412822754SYN1c.1732T>C (p.Ser578Pro)
c.70+436T>C (n.70+436T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574252A>TCA412822752SYN1c.1732T>A (p.Ser578Thr)
c.70+436T>A (n.70+436T>A)
 gnomAD v4
Xg.47574253G>ACA516353773SYN1c.1731C>T (p.Ala577=)
c.70+435C>T (n.70+435C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574253G>CCA516353775SYN1c.1731C>G (p.Ala577=)
c.70+435C>G (n.70+435C>G)
 gnomAD v4
Xg.47574253G>TCA516353777SYN1c.1731C>A (p.Ala577=)
c.70+435C>A (n.70+435C>A)
 gnomAD v4
Xg.47574254G>ACA412822755SYN1c.1730C>T (p.Ala577Val)
c.70+434C>T (n.70+434C>T)
 gnomAD v4
Xg.47574254G>CCA329057235SYN1c.1730C>G (p.Ala577Gly)
c.70+434C>G (n.70+434C>G)
 dbSNP
Xg.47574254G=CA2427971236SYN1c.1730C= (p.Ala577=)
c.70+434C= (n.70+434C=)
Xg.47574254G>TCA412822757SYN1c.1730C>A (p.Ala577Asp)
c.70+434C>A (n.70+434C>A)
 gnomAD v4
Xg.47574255C>ACA412822758SYN1c.1729G>T (p.Ala577Ser)
c.70+433G>T (n.70+433G>T)
 dbSNP
Xg.47574255C=CA2427971237SYN1c.1729G= (p.Ala577=)
c.70+433G= (n.70+433G=)
Xg.47574255C>GCA412822760SYN1c.1729G>C (p.Ala577Pro)
c.70+433G>C (n.70+433G>C)
 dbSNP
Xg.47574255C>TCA412822762SYN1c.1729G>A (p.Ala577Thr)
c.70+433G>A (n.70+433G>A)
 gnomAD v4
Xg.47574256delCA2580101022SYN1c.1729del (p.Ala577ProfsTer?)
c.70+433del (n.70+433del)
 ClinVar
Xg.47574256C>ACA412822763SYN1c.1728G>T (p.Lys576Asn)
c.70+432G>T (n.70+432G>T)
 gnomAD v4
Xg.47574256C=CA2427971238SYN1c.1728G= (p.Lys576=)
c.70+432G= (n.70+432G=)
Xg.47574256C>GCA412822764SYN1c.1728G>C (p.Lys576Asn)
c.70+432G>C (n.70+432G>C)
Xg.47574256C>TCA516353784SYN1c.1728G>A (p.Lys576=)
c.70+432G>A (n.70+432G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574257T>ACA412822767SYN1c.1727A>T (p.Lys576Met)
c.70+431A>T (n.70+431A>T)
Xg.47574257T>CCA412822768SYN1c.1727A>G (p.Lys576Arg)
c.70+431A>G (n.70+431A>G)
 gnomAD v4
Xg.47574257T>GCA412822770SYN1c.1727A>C (p.Lys576Thr)
c.70+431A>C (n.70+431A>C)
 gnomAD v4
Xg.47574259delCA2693585122SYN1c.1727del (p.Lys576ArgfsTer?)
c.70+431del (n.70+431del)
 gnomAD v4
Xg.47574258T>ACA412822774SYN1c.1726A>T (p.Lys576Ter)
c.70+430A>T (n.70+430A>T)
Xg.47574258T>CCA412822773SYN1c.1726A>G (p.Lys576Glu)
c.70+430A>G (n.70+430A>G)
 ClinVar gnomAD v4
Xg.47574258T>GCA412822771SYN1c.1726A>C (p.Lys576Gln)
c.70+430A>C (n.70+430A>C)
Xg.47574259T>ACA516353790SYN1c.1725A>T (p.Pro575=)
c.70+429A>T (n.70+429A>T)
Xg.47574259T>CCA516353791SYN1c.1725A>G (p.Pro575=)
c.70+429A>G (n.70+429A>G)
 gnomAD v4
Xg.47574259T>GCA516353792SYN1c.1725A>C (p.Pro575=)
c.70+429A>C (n.70+429A>C)
Xg.47574260G>ACA412822776SYN1c.1724C>T (p.Pro575Leu)
c.70+428C>T (n.70+428C>T)
Xg.47574260G>CCA412822779SYN1c.1724C>G (p.Pro575Arg)
c.70+428C>G (n.70+428C>G)
Xg.47574260G>TCA412822778SYN1c.1724C>A (p.Pro575Gln)
c.70+428C>A (n.70+428C>A)
 gnomAD v4
Xg.47574261G>ACA412822781SYN1c.1723C>T (p.Pro575Ser)
c.70+427C>T (n.70+427C>T)
Xg.47574261G>CCA412822784SYN1c.1723C>G (p.Pro575Ala)
c.70+427C>G (n.70+427C>G)
Xg.47574261G>TCA412822782SYN1c.1723C>A (p.Pro575Thr)
c.70+427C>A (n.70+427C>A)
Xg.47574262C>ACA516353795SYN1c.1722G>T (p.Pro574=)
c.70+426G>T (n.70+426G>T)
 gnomAD v4
Xg.47574262C=CA2427971239SYN1c.1722G= (p.Pro574=)
c.70+426G= (n.70+426G=)
Xg.47574262C>GCA516353797SYN1c.1722G>C (p.Pro574=)
c.70+426G>C (n.70+426G>C)
Xg.47574262C>TCA516353799SYN1c.1722G>A (p.Pro574=)
c.70+426G>A (n.70+426G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574263G>ACA412822785SYN1c.1721C>T (p.Pro574Leu)
c.70+425C>T (n.70+425C>T)
 ClinVar gnomAD v4
Xg.47574263G>CCA412822787SYN1c.1721C>G (p.Pro574Arg)
c.70+425C>G (n.70+425C>G)
Xg.47574263G>TCA412822788SYN1c.1721C>A (p.Pro574Gln)
c.70+425C>A (n.70+425C>A)
 dbSNP gnomAD v4
Xg.47574264G>ACA412822790SYN1c.1720C>T (p.Pro574Ser)
c.70+424C>T (n.70+424C>T)
 gnomAD v4
Xg.47574264G>CCA412822791SYN1c.1720C>G (p.Pro574Ala)
c.70+424C>G (n.70+424C>G)
Xg.47574264G=CA2427971240SYN1c.1720C= (p.Pro574=)
c.70+424C= (n.70+424C=)
Xg.47574264G>TCA412822793SYN1c.1720C>A (p.Pro574Thr)
c.70+424C>A (n.70+424C>A)
 dbSNP gnomAD v4
Xg.47574265A>CCA516353804SYN1c.1719T>G (p.Ala573=)
c.70+423T>G (n.70+423T>G)
Xg.47574265A>GCA516353806SYN1c.1719T>C (p.Ala573=)
c.70+423T>C (n.70+423T>C)
 gnomAD v4
Xg.47574265A>TCA516353807SYN1c.1719T>A (p.Ala573=)
c.70+423T>A (n.70+423T>A)
Xg.47574266G>ACA412822795SYN1c.1718C>T (p.Ala573Val)
c.70+422C>T (n.70+422C>T)
 ClinVar gnomAD v4
Xg.47574266G>CCA412822796SYN1c.1718C>G (p.Ala573Gly)
c.70+422C>G (n.70+422C>G)
 gnomAD v4
Xg.47574266G>TCA412822797SYN1c.1718C>A (p.Ala573Asp)
c.70+422C>A (n.70+422C>A)
 gnomAD v4
Xg.47574267C>ACA412822798SYN1c.1717G>T (p.Ala573Ser)
c.70+421G>T (n.70+421G>T)
 gnomAD v4
Xg.47574267C>GCA412822799SYN1c.1717G>C (p.Ala573Pro)
c.70+421G>C (n.70+421G>C)
 gnomAD v4
Xg.47574267C>TCA412822801SYN1c.1717G>A (p.Ala573Thr)
c.70+421G>A (n.70+421G>A)
 gnomAD v4
Xg.47574268C>ACA516353814SYN1c.1716G>T (p.Pro572=)
c.70+420G>T (n.70+420G>T)
 gnomAD v4
Xg.47574268C>GCA516353817SYN1c.1716G>C (p.Pro572=)
c.70+420G>C (n.70+420G>C)
 gnomAD v4
Xg.47574268C>TCA516353816SYN1c.1716G>A (p.Pro572=)
c.70+420G>A (n.70+420G>A)
 gnomAD v4
Xg.47574269G>ACA412822803SYN1c.1715C>T (p.Pro572Leu)
c.70+419C>T (n.70+419C>T)
 gnomAD v4
Xg.47574269G>CCA412822806SYN1c.1715C>G (p.Pro572Arg)
c.70+419C>G (n.70+419C>G)
 gnomAD v4
Xg.47574269G=CA2427971241SYN1c.1715C= (p.Pro572=)
c.70+419C= (n.70+419C=)
Xg.47574269G>TCA412822805SYN1c.1715C>A (p.Pro572Gln)
c.70+419C>A (n.70+419C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.47574271delCA2820775723SYN1c.1715del (p.Pro572ArgfsTer?)
c.70+419del (n.70+419del)
Xg.47574270G>ACA412822807SYN1c.1714C>T (p.Pro572Ser)
c.70+418C>T (n.70+418C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574270G>CCA412822809SYN1c.1714C>G (p.Pro572Ala)
c.70+418C>G (n.70+418C>G)
Xg.47574270G=CA2427971242SYN1c.1714C= (p.Pro572=)
c.70+418C= (n.70+418C=)
Xg.47574270G>TCA412822810SYN1c.1714C>A (p.Pro572Thr)
c.70+418C>A (n.70+418C>A)
 gnomAD v4

Number of alleles fetched