Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574015G>ACA412822009SYN1c.1969C>T (p.His657Tyr)
c.70+673C>T (n.70+673C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574015G>CCA412822010SYN1c.1969C>G (p.His657Asp)
c.70+673C>G (n.70+673C>G)
Xg.47574015G=CA2427971152SYN1c.1969C= (p.His657=)
c.70+673C= (n.70+673C=)
Xg.47574015G>TCA412822011SYN1c.1969C>A (p.His657Asn)
c.70+673C>A (n.70+673C>A)
 gnomAD v4
Xg.47574016C>ACA516353220SYN1c.1968G>T (p.Pro656=)
c.70+672G>T (n.70+672G>T)
 gnomAD v4
Xg.47574016C=CA2427971153SYN1c.1968G= (p.Pro656=)
c.70+672G= (n.70+672G=)
Xg.47574016C>GCA516353221SYN1c.1968G>C (p.Pro656=)
c.70+672G>C (n.70+672G>C)
Xg.47574016C>TCA318931SYN1c.1968G>A (p.Pro656=)
c.70+672G>A (n.70+672G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574017G>ACA412822019SYN1c.1967C>T (p.Pro656Leu)
c.70+671C>T (n.70+671C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574017G>CCA412822015SYN1c.1967C>G (p.Pro656Arg)
c.70+671C>G (n.70+671C>G)
Xg.47574017G=CA2427971154SYN1c.1967C= (p.Pro656=)
c.70+671C= (n.70+671C=)
Xg.47574017G>TCA412822017SYN1c.1967C>A (p.Pro656Gln)
c.70+671C>A (n.70+671C>A)
 gnomAD v4
Xg.47574018G>ACA412822021SYN1c.1966C>T (p.Pro656Ser)
c.70+670C>T (n.70+670C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574018G>CCA412822023SYN1c.1966C>G (p.Pro656Ala)
c.70+670C>G (n.70+670C>G)
 gnomAD v4
Xg.47574018G=CA2427971155SYN1c.1966C= (p.Pro656=)
c.70+670C= (n.70+670C=)
Xg.47574018G>TCA412822025SYN1c.1966C>A (p.Pro656Thr)
c.70+670C>A (n.70+670C>A)
 gnomAD v4
Xg.47574019A>CCA516353223SYN1c.1965T>G (p.Pro655=)
c.70+669T>G (n.70+669T>G)
Xg.47574019A>GCA516353224SYN1c.1965T>C (p.Pro655=)
c.70+669T>C (n.70+669T>C)
 gnomAD v4
Xg.47574019A>TCA516353225SYN1c.1965T>A (p.Pro655=)
c.70+669T>A (n.70+669T>A)
 gnomAD v4
Xg.47574020G>ACA412822027SYN1c.1964C>T (p.Pro655Leu)
c.70+668C>T (n.70+668C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574020G>CCA412822029SYN1c.1964C>G (p.Pro655Arg)
c.70+668C>G (n.70+668C>G)
Xg.47574020G=CA2427971156SYN1c.1964C= (p.Pro655=)
c.70+668C= (n.70+668C=)
Xg.47574020G>TCA412822031SYN1c.1964C>A (p.Pro655His)
c.70+668C>A (n.70+668C>A)
 gnomAD v4
Xg.47574021G>ACA412822033SYN1c.1963C>T (p.Pro655Ser)
c.70+667C>T (n.70+667C>T)
Xg.47574021G>CCA412822035SYN1c.1963C>G (p.Pro655Ala)
c.70+667C>G (n.70+667C>G)
Xg.47574021G=CA2427971157SYN1c.1963C= (p.Pro655=)
c.70+667C= (n.70+667C=)
Xg.47574021G>TCA412822037SYN1c.1963C>A (p.Pro655Thr)
c.70+667C>A (n.70+667C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574021_47574022delinsGTCA2427971158SYN1c.1962_1963delinsAC (p.Gly654=)
c.70+666_70+667delinsAC (n.70+666_70+667delinsAC)
Xg.47574022delCA658825023SYN1c.1962del (p.Pro655LeufsTer12)
c.1962del (p.Pro655LeufsTer?)
c.70+666del (n.70+666del)
 ClinVar dbSNP gnomAD v4
Xg.47574022T>ACA516353226SYN1c.1962A>T (p.Gly654=)
c.70+666A>T (n.70+666A>T)
Xg.47574022T>CCA516353227SYN1c.1962A>G (p.Gly654=)
c.70+666A>G (n.70+666A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574022T>GCA516353228SYN1c.1962A>C (p.Gly654=)
c.70+666A>C (n.70+666A>C)
Xg.47574022T=CA2427971159SYN1c.1962A= (p.Gly654=)
c.70+666A= (n.70+666A=)
Xg.47574023C>ACA412822038SYN1c.1961G>T (p.Gly654Val)
c.70+665G>T (n.70+665G>T)
 gnomAD v4
Xg.47574023C=CA2427971160SYN1c.1961G= (p.Gly654=)
c.70+665G= (n.70+665G=)
Xg.47574023C>GCA412822041SYN1c.1961G>C (p.Gly654Ala)
c.70+665G>C (n.70+665G>C)
 gnomAD v4
Xg.47574023C>TCA318970SYN1c.1961G>A (p.Gly654Glu)
c.70+665G>A (n.70+665G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574027dupCA2693584579SYN1c.1961dup (p.Pro655ThrfsTer29)
c.1961dup (p.Pro655ThrfsTer21)
c.70+665dup (n.70+665dup)
 gnomAD v4
Xg.47574027delCA2693584580SYN1c.1961del (p.Gly654AspfsTer13)
c.1961del (p.Gly654AspfsTer?)
c.70+665del (n.70+665del)
 dbSNP gnomAD v4
Xg.47574024C>ACA412822044SYN1c.1960G>T (p.Gly654Ter)
c.70+664G>T (n.70+664G>T)
 gnomAD v4
Xg.47574024C>GCA412822042SYN1c.1960G>C (p.Gly654Arg)
c.70+664G>C (n.70+664G>C)
Xg.47574024C>TCA412822043SYN1c.1960G>A (p.Gly654Arg)
c.70+664G>A (n.70+664G>A)
 gnomAD v4
Xg.47574025C>ACA516353233SYN1c.1959G>T (p.Gly653=)
c.70+663G>T (n.70+663G>T)
 gnomAD v4
Xg.47574025C>GCA516353234SYN1c.1959G>C (p.Gly653=)
c.70+663G>C (n.70+663G>C)
Xg.47574025C>TCA516353235SYN1c.1959G>A (p.Gly653=)
c.70+663G>A (n.70+663G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574026C>ACA412822047SYN1c.1958G>T (p.Gly653Val)
c.70+662G>T (n.70+662G>T)
 gnomAD v4
Xg.47574026C>GCA412822050SYN1c.1958G>C (p.Gly653Ala)
c.70+662G>C (n.70+662G>C)
Xg.47574026C>TCA412822049SYN1c.1958G>A (p.Gly653Glu)
c.70+662G>A (n.70+662G>A)
 gnomAD v4
Xg.47574027C>ACA412822055SYN1c.1957G>T (p.Gly653Trp)
c.70+661G>T (n.70+661G>T)
 gnomAD v4
Xg.47574027C>GCA412822056SYN1c.1957G>C (p.Gly653Arg)
c.70+661G>C (n.70+661G>C)
 gnomAD v4
Xg.47574027C>TCA412822057SYN1c.1957G>A (p.Gly653Arg)
c.70+661G>A (n.70+661G>A)
 gnomAD v4
Xg.47574028T>ACA516353238SYN1c.1956A>T (p.Ala652=)
c.70+660A>T (n.70+660A>T)
 gnomAD v4
Xg.47574028T>CCA10398342SYN1c.1956A>G (p.Ala652=)
c.70+660A>G (n.70+660A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574028T>GCA516353237SYN1c.1956A>C (p.Ala652=)
c.70+660A>C (n.70+660A>C)
 gnomAD v4
Xg.47574028T=CA2427971161SYN1c.1956A= (p.Ala652=)
c.70+660A= (n.70+660A=)
Xg.47574029G>ACA412822058SYN1c.1955C>T (p.Ala652Val)
c.70+659C>T (n.70+659C>T)
 gnomAD v4
Xg.47574029G>CCA412822059SYN1c.1955C>G (p.Ala652Gly)
c.70+659C>G (n.70+659C>G)
Xg.47574029G>TCA412822060SYN1c.1955C>A (p.Ala652Glu)
c.70+659C>A (n.70+659C>A)
 gnomAD v4
Xg.47574030C>ACA412822061SYN1c.1954G>T (p.Ala652Ser)
c.70+658G>T (n.70+658G>T)
 gnomAD v4
Xg.47574030C>GCA412822062SYN1c.1954G>C (p.Ala652Pro)
c.70+658G>C (n.70+658G>C)
 gnomAD v4
Xg.47574030C>TCA412822063SYN1c.1954G>A (p.Ala652Thr)
c.70+658G>A (n.70+658G>A)
 gnomAD v4
Xg.47574031A=CA2427971162SYN1c.1953T= (p.Ala651=)
c.70+657T= (n.70+657T=)
Xg.47574031A>CCA516353241SYN1c.1953T>G (p.Ala651=)
c.70+657T>G (n.70+657T>G)
Xg.47574031A>GCA516353242SYN1c.1953T>C (p.Ala651=)
c.70+657T>C (n.70+657T>C)
 gnomAD v4
Xg.47574031A>TCA516353243SYN1c.1953T>A (p.Ala651=)
c.70+657T>A (n.70+657T>A)
 dbSNP
Xg.47574032G>ACA412822064SYN1c.1952C>T (p.Ala651Val)
c.70+656C>T (n.70+656C>T)
 gnomAD v4
Xg.47574032G>CCA412822065SYN1c.1952C>G (p.Ala651Gly)
c.70+656C>G (n.70+656C>G)
Xg.47574032G>TCA412822066SYN1c.1952C>A (p.Ala651Asp)
c.70+656C>A (n.70+656C>A)
 gnomAD v4
Xg.47574033C>ACA412822069SYN1c.1951G>T (p.Ala651Ser)
c.70+655G>T (n.70+655G>T)
 gnomAD v4
Xg.47574033C=CA2427971163SYN1c.1951G= (p.Ala651=)
c.70+655G= (n.70+655G=)
Xg.47574033C>GCA412822068SYN1c.1951G>C (p.Ala651Pro)
c.70+655G>C (n.70+655G>C)
 gnomAD v4
Xg.47574033C>TCA412822067SYN1c.1951G>A (p.Ala651Thr)
c.70+655G>A (n.70+655G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574034G>ACA516353244SYN1c.1950C>T (p.Ala650=)
c.70+654C>T (n.70+654C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574034G>CCA516353245SYN1c.1950C>G (p.Ala650=)
c.70+654C>G (n.70+654C>G)
Xg.47574034G=CA2427971164SYN1c.1950C= (p.Ala650=)
c.70+654C= (n.70+654C=)
Xg.47574034G>TCA516353246SYN1c.1950C>A (p.Ala650=)
c.70+654C>A (n.70+654C>A)
 gnomAD v4
Xg.47574035G>ACA412822070SYN1c.1949C>T (p.Ala650Val)
c.70+653C>T (n.70+653C>T)
 gnomAD v4
Xg.47574035G>CCA412822071SYN1c.1949C>G (p.Ala650Gly)
c.70+653C>G (n.70+653C>G)
Xg.47574035G>TCA412822072SYN1c.1949C>A (p.Ala650Asp)
c.70+653C>A (n.70+653C>A)
 gnomAD v4
Xg.47574036C>ACA412822073SYN1c.1948G>T (p.Ala650Ser)
c.70+652G>T (n.70+652G>T)
 gnomAD v4
Xg.47574036C>GCA412822074SYN1c.1948G>C (p.Ala650Pro)
c.70+652G>C (n.70+652G>C)
Xg.47574036C>TCA412822075SYN1c.1948G>A (p.Ala650Thr)
c.70+652G>A (n.70+652G>A)
 gnomAD v4
Xg.47574037G>ACA516353248SYN1c.1947C>T (p.Thr649=)
c.70+651C>T (n.70+651C>T)
 gnomAD v4
Xg.47574037G>CCA516353249SYN1c.1947C>G (p.Thr649=)
c.70+651C>G (n.70+651C>G)
Xg.47574037G=CA2427971165SYN1c.1947C= (p.Thr649=)
c.70+651C= (n.70+651C=)
Xg.47574037G>TCA10398343SYN1c.1947C>A (p.Thr649=)
c.70+651C>A (n.70+651C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574045_47574051dupCA2573131767SYN1c.1941_1947dup (p.Ala650ArgfsTer?)
c.1941_1947dup (p.Ala650ArgfsTer28)
c.70+645_70+651dup (n.70+645_70+651dup)
 ClinVar dbSNP
Xg.47574038G>ACA412822076SYN1c.1946C>T (p.Thr649Ile)
c.70+650C>T (n.70+650C>T)
 ClinVar gnomAD v4
Xg.47574038G>CCA412822077SYN1c.1946C>G (p.Thr649Ser)
c.70+650C>G (n.70+650C>G)
 gnomAD v4
Xg.47574038G>TCA412822078SYN1c.1946C>A (p.Thr649Asn)
c.70+650C>A (n.70+650C>A)
 gnomAD v4
Xg.47574039T>ACA412822079SYN1c.1945A>T (p.Thr649Ser)
c.70+649A>T (n.70+649A>T)
Xg.47574039T>CCA412822080SYN1c.1945A>G (p.Thr649Ala)
c.70+649A>G (n.70+649A>G)
 gnomAD v4
Xg.47574039T>GCA412822081SYN1c.1945A>C (p.Thr649Pro)
c.70+649A>C (n.70+649A>C)
Xg.47574040G>ACA516353250SYN1c.1944C>T (p.Ala648=)
c.70+648C>T (n.70+648C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574040G>CCA516353251SYN1c.1944C>G (p.Ala648=)
c.70+648C>G (n.70+648C>G)
Xg.47574040G=CA2427971166SYN1c.1944C= (p.Ala648=)
c.70+648C= (n.70+648C=)
Xg.47574040G>TCA516353252SYN1c.1944C>A (p.Ala648=)
c.70+648C>A (n.70+648C>A)
 gnomAD v4
Xg.47574041G>ACA318967SYN1c.1943C>T (p.Ala648Val)
c.70+647C>T (n.70+647C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574041G>CCA412822083SYN1c.1943C>G (p.Ala648Gly)
c.70+647C>G (n.70+647C>G)
Xg.47574041G=CA2427971167SYN1c.1943C= (p.Ala648=)
c.70+647C= (n.70+647C=)
Xg.47574041G>TCA412822082SYN1c.1943C>A (p.Ala648Asp)
c.70+647C>A (n.70+647C>A)
 gnomAD v4
Xg.47574042C>ACA412822084SYN1c.1942G>T (p.Ala648Ser)
c.70+646G>T (n.70+646G>T)
 gnomAD v4
Xg.47574042C>GCA412822085SYN1c.1942G>C (p.Ala648Pro)
c.70+646G>C (n.70+646G>C)
 gnomAD v4
Xg.47574042C>TCA412822086SYN1c.1942G>A (p.Ala648Thr)
c.70+646G>A (n.70+646G>A)
 gnomAD v4 COSMIC COSMIC
Xg.47574043G>ACA516353254SYN1c.1941C>T (p.Pro647=)
c.70+645C>T (n.70+645C>T)
 dbSNP gnomAD v4
Xg.47574043G>CCA516353255SYN1c.1941C>G (p.Pro647=)
c.70+645C>G (n.70+645C>G)
 gnomAD v4
Xg.47574043G=CA2427971168SYN1c.1941C= (p.Pro647=)
c.70+645C= (n.70+645C=)
Xg.47574043G>TCA516353256SYN1c.1941C>A (p.Pro647=)
c.70+645C>A (n.70+645C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574045delCA2693584581SYN1c.1941del (p.Ala648ProfsTer19)
c.1941del (p.Ala648ProfsTer?)
c.70+645del (n.70+645del)
 gnomAD v4
Xg.47574044G>ACA412822087SYN1c.1940C>T (p.Pro647Leu)
c.70+644C>T (n.70+644C>T)
 gnomAD v4
Xg.47574044G>CCA412822088SYN1c.1940C>G (p.Pro647Arg)
c.70+644C>G (n.70+644C>G)
Xg.47574044G>TCA412822089SYN1c.1940C>A (p.Pro647His)
c.70+644C>A (n.70+644C>A)
 gnomAD v4
Xg.47574045G>ACA412822090SYN1c.1939C>T (p.Pro647Ser)
c.70+643C>T (n.70+643C>T)
 gnomAD v4
Xg.47574045G>CCA412822091SYN1c.1939C>G (p.Pro647Ala)
c.70+643C>G (n.70+643C>G)
Xg.47574045G>TCA412822092SYN1c.1939C>A (p.Pro647Thr)
c.70+643C>A (n.70+643C>A)
 gnomAD v4
Xg.47574046T>ACA516353258SYN1c.1938A>T (p.Pro646=)
c.70+642A>T (n.70+642A>T)
Xg.47574046T>CCA516353259SYN1c.1938A>G (p.Pro646=)
c.70+642A>G (n.70+642A>G)
 gnomAD v4
Xg.47574046T>GCA516353260SYN1c.1938A>C (p.Pro646=)
c.70+642A>C (n.70+642A>C)
 dbSNP gnomAD v4
Xg.47574046T=CA2427971169SYN1c.1938A= (p.Pro646=)
c.70+642A= (n.70+642A=)
Xg.47574047G>ACA412822093SYN1c.1937C>T (p.Pro646Leu)
c.70+641C>T (n.70+641C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574047G>CCA412822094SYN1c.1937C>G (p.Pro646Arg)
c.70+641C>G (n.70+641C>G)
Xg.47574047G=CA2427971170SYN1c.1937C= (p.Pro646=)
c.70+641C= (n.70+641C=)
Xg.47574047G>TCA412822095SYN1c.1937C>A (p.Pro646Gln)
c.70+641C>A (n.70+641C>A)
 gnomAD v4
Xg.47574048G>ACA412822098SYN1c.1936C>T (p.Pro646Ser)
c.70+640C>T (n.70+640C>T)
 gnomAD v4
Xg.47574048G>CCA412822096SYN1c.1936C>G (p.Pro646Ala)
c.70+640C>G (n.70+640C>G)
Xg.47574048G>TCA412822097SYN1c.1936C>A (p.Pro646Thr)
c.70+640C>A (n.70+640C>A)
 gnomAD v4
Xg.47574049C>ACA516353264SYN1c.1935G>T (p.Pro645=)
c.70+639G>T (n.70+639G>T)
 gnomAD v4
Xg.47574049C=CA2427971171SYN1c.1935G= (p.Pro645=)
c.70+639G= (n.70+639G=)
Xg.47574049C>GCA516353263SYN1c.1935G>C (p.Pro645=)
c.70+639G>C (n.70+639G>C)
Xg.47574049C>TCA516353262SYN1c.1935G>A (p.Pro645=)
c.70+639G>A (n.70+639G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574050G>ACA412822099SYN1c.1934C>T (p.Pro645Leu)
c.70+638C>T (n.70+638C>T)
 gnomAD v4 COSMIC COSMIC
Xg.47574050G>CCA329057178SYN1c.1934C>G (p.Pro645Arg)
c.70+638C>G (n.70+638C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574050G=CA2427971172SYN1c.1934C= (p.Pro645=)
c.70+638C= (n.70+638C=)
Xg.47574050G>TCA412822100SYN1c.1934C>A (p.Pro645Gln)
c.70+638C>A (n.70+638C>A)
 gnomAD v4
Xg.47574051G>ACA412822101SYN1c.1933C>T (p.Pro645Ser)
c.70+637C>T (n.70+637C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574051G>CCA412822102SYN1c.1933C>G (p.Pro645Ala)
c.70+637C>G (n.70+637C>G)
Xg.47574051G=CA2427971173SYN1c.1933C= (p.Pro645=)
c.70+637C= (n.70+637C=)
Xg.47574051G>TCA412822103SYN1c.1933C>A (p.Pro645Thr)
c.70+637C>A (n.70+637C>A)
 gnomAD v4
Xg.47574052C>ACA516353265SYN1c.1932G>T (p.Val644=)
c.70+636G>T (n.70+636G>T)
 gnomAD v4
Xg.47574052C>GCA516353267SYN1c.1932G>C (p.Val644=)
c.70+636G>C (n.70+636G>C)
 gnomAD v4
Xg.47574052C>TCA516353268SYN1c.1932G>A (p.Val644=)
c.70+636G>A (n.70+636G>A)
 gnomAD v4
Xg.47574053A>CCA412822104SYN1c.1931T>G (p.Val644Gly)
c.70+635T>G (n.70+635T>G)
Xg.47574053A>GCA412822105SYN1c.1931T>C (p.Val644Ala)
c.70+635T>C (n.70+635T>C)
Xg.47574053A>TCA412822106SYN1c.1931T>A (p.Val644Glu)
c.70+635T>A (n.70+635T>A)
Xg.47574054C>ACA412822107SYN1c.1930G>T (p.Val644Leu)
c.70+634G>T (n.70+634G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574054C=CA2427971174SYN1c.1930G= (p.Val644=)
c.70+634G= (n.70+634G=)
Xg.47574054C>GCA412822108SYN1c.1930G>C (p.Val644Leu)
c.70+634G>C (n.70+634G>C)
Xg.47574054C>TCA412822109SYN1c.1930G>A (p.Val644Met)
c.70+634G>A (n.70+634G>A)
 ClinVar gnomAD v4
Xg.47574055G>ACA516353269SYN1c.1929C>T (p.Asp643=)
c.70+633C>T (n.70+633C>T)
 gnomAD v4
Xg.47574055G>CCA412822110SYN1c.1929C>G (p.Asp643Glu)
c.70+633C>G (n.70+633C>G)
Xg.47574055G>TCA412822111SYN1c.1929C>A (p.Asp643Glu)
c.70+633C>A (n.70+633C>A)
 gnomAD v4
Xg.47574056T>ACA412822112SYN1c.1928A>T (p.Asp643Val)
c.70+632A>T (n.70+632A>T)
Xg.47574056T>CCA412822113SYN1c.1928A>G (p.Asp643Gly)
c.70+632A>G (n.70+632A>G)
 gnomAD v4
Xg.47574056T>GCA412822114SYN1c.1928A>C (p.Asp643Ala)
c.70+632A>C (n.70+632A>C)
Xg.47574057C>ACA412822115SYN1c.1927G>T (p.Asp643Tyr)
c.70+631G>T (n.70+631G>T)
 gnomAD v4
Xg.47574057C>GCA412822116SYN1c.1927G>C (p.Asp643His)
c.70+631G>C (n.70+631G>C)
Xg.47574057C>TCA412822117SYN1c.1927G>A (p.Asp643Asn)
c.70+631G>A (n.70+631G>A)
 gnomAD v4
Xg.47574058C>ACA412822118SYN1c.1926G>T (p.Gln642His)
c.70+630G>T (n.70+630G>T)
 gnomAD v4
Xg.47574058C>GCA412822119SYN1c.1926G>C (p.Gln642His)
c.70+630G>C (n.70+630G>C)
 gnomAD v4
Xg.47574058C>TCA516353273SYN1c.1926G>A (p.Gln642=)
c.70+630G>A (n.70+630G>A)
 dbSNP
Xg.47574059T>ACA412822120SYN1c.1925A>T (p.Gln642Leu)
c.70+629A>T (n.70+629A>T)
 gnomAD v4
Xg.47574059T>CCA10398344SYN1c.1925A>G (p.Gln642Arg)
c.70+629A>G (n.70+629A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574059T>GCA412822123SYN1c.1925A>C (p.Gln642Pro)
c.70+629A>C (n.70+629A>C)
Xg.47574059T=CA2427971175SYN1c.1925A= (p.Gln642=)
c.70+629A= (n.70+629A=)
Xg.47574060G>ACA412822125SYN1c.1924C>T (p.Gln642Ter)
c.70+628C>T (n.70+628C>T)
 gnomAD v4
Xg.47574060G>CCA412822126SYN1c.1924C>G (p.Gln642Glu)
c.70+628C>G (n.70+628C>G)
Xg.47574060G>TCA412822129SYN1c.1924C>A (p.Gln642Lys)
c.70+628C>A (n.70+628C>A)
 gnomAD v4
Xg.47574061G>ACA516353274SYN1c.1923C>T (p.Ser641=)
c.70+627C>T (n.70+627C>T)
 gnomAD v4
Xg.47574061G>CCA412822132SYN1c.1923C>G (p.Ser641Arg)
c.70+627C>G (n.70+627C>G)
Xg.47574061G>TCA412822131SYN1c.1923C>A (p.Ser641Arg)
c.70+627C>A (n.70+627C>A)
 gnomAD v4
Xg.47574062C>ACA412822134SYN1c.1922G>T (p.Ser641Ile)
c.70+626G>T (n.70+626G>T)
 gnomAD v4
Xg.47574062C>GCA412822135SYN1c.1922G>C (p.Ser641Thr)
c.70+626G>C (n.70+626G>C)
Xg.47574062C>TCA412822137SYN1c.1922G>A (p.Ser641Asn)
c.70+626G>A (n.70+626G>A)
 gnomAD v4
Xg.47574063T>ACA412822139SYN1c.1921A>T (p.Ser641Cys)
c.70+625A>T (n.70+625A>T)
Xg.47574063T>CCA412822141SYN1c.1921A>G (p.Ser641Gly)
c.70+625A>G (n.70+625A>G)
 gnomAD v4
Xg.47574063T>GCA412822143SYN1c.1921A>C (p.Ser641Arg)
c.70+625A>C (n.70+625A>C)
Xg.47574064G>ACA516353275SYN1c.1920C>T (p.Pro640=)
c.70+624C>T (n.70+624C>T)
 gnomAD v4
Xg.47574064G>CCA516353276SYN1c.1920C>G (p.Pro640=)
c.70+624C>G (n.70+624C>G)
Xg.47574064G>TCA516353277SYN1c.1920C>A (p.Pro640=)
c.70+624C>A (n.70+624C>A)
 gnomAD v4
Xg.47574065G>ACA412822148SYN1c.1919C>T (p.Pro640Leu)
c.70+623C>T (n.70+623C>T)
Xg.47574065G>CCA412822145SYN1c.1919C>G (p.Pro640Arg)
c.70+623C>G (n.70+623C>G)
Xg.47574065G>TCA412822146SYN1c.1919C>A (p.Pro640His)
c.70+623C>A (n.70+623C>A)
 gnomAD v4
Xg.47574066G>ACA412822151SYN1c.1918C>T (p.Pro640Ser)
c.70+622C>T (n.70+622C>T)
 gnomAD v4
Xg.47574066G>CCA412822153SYN1c.1918C>G (p.Pro640Ala)
c.70+622C>G (n.70+622C>G)
Xg.47574066G>TCA412822154SYN1c.1918C>A (p.Pro640Thr)
c.70+622C>A (n.70+622C>A)
 gnomAD v4
Xg.47574067T>ACA412822156SYN1c.1917A>T (p.Lys639Asn)
c.70+621A>T (n.70+621A>T)
Xg.47574067T>CCA516353278SYN1c.1917A>G (p.Lys639=)
c.70+621A>G (n.70+621A>G)
Xg.47574067T>GCA329057186SYN1c.1917A>C (p.Lys639Asn)
c.70+621A>C (n.70+621A>C)
 dbSNP
Xg.47574067T=CA2427971176SYN1c.1917A= (p.Lys639=)
c.70+621A= (n.70+621A=)
Xg.47574068T>ACA412822160SYN1c.1916A>T (p.Lys639Ile)
c.70+620A>T (n.70+620A>T)
Xg.47574068T>CCA412822163SYN1c.1916A>G (p.Lys639Arg)
c.70+620A>G (n.70+620A>G)
 gnomAD v4
Xg.47574068T>GCA412822162SYN1c.1916A>C (p.Lys639Thr)
c.70+620A>C (n.70+620A>C)
Xg.47574069T>ACA412822166SYN1c.1915A>T (p.Lys639Ter)
c.70+619A>T (n.70+619A>T)
Xg.47574069T>CCA412822167SYN1c.1915A>G (p.Lys639Glu)
c.70+619A>G (n.70+619A>G)
Xg.47574069T>GCA412822169SYN1c.1915A>C (p.Lys639Gln)
c.70+619A>C (n.70+619A>C)
 COSMIC
Xg.47574070C>ACA412822172SYN1c.1914G>T (p.Gln638His)
c.70+618G>T (n.70+618G>T)
 gnomAD v4
Xg.47574070C>GCA412822174SYN1c.1914G>C (p.Gln638His)
c.70+618G>C (n.70+618G>C)
Xg.47574070C>TCA516353280SYN1c.1914G>A (p.Gln638=)
c.70+618G>A (n.70+618G>A)
 gnomAD v4
Xg.47574071T>ACA412822180SYN1c.1913A>T (p.Gln638Leu)
c.70+617A>T (n.70+617A>T)
 gnomAD v4
Xg.47574071T>CCA412822178SYN1c.1913A>G (p.Gln638Arg)
c.70+617A>G (n.70+617A>G)
 gnomAD v4
Xg.47574071T>GCA412822176SYN1c.1913A>C (p.Gln638Pro)
c.70+617A>C (n.70+617A>C)
Xg.47574072G>ACA412822182SYN1c.1912C>T (p.Gln638Ter)
c.70+616C>T (n.70+616C>T)
 gnomAD v4
Xg.47574072G>CCA412822183SYN1c.1912C>G (p.Gln638Glu)
c.70+616C>G (n.70+616C>G)
Xg.47574072G=CA2427971177SYN1c.1912C= (p.Gln638=)
c.70+616C= (n.70+616C=)
Xg.47574072G>TCA412822185SYN1c.1912C>A (p.Gln638Lys)
c.70+616C>A (n.70+616C>A)
 dbSNP gnomAD v4
Xg.47574073G>ACA516353281SYN1c.1911C>T (p.Ala637=)
c.70+615C>T (n.70+615C>T)
Xg.47574073G>CCA516353282SYN1c.1911C>G (p.Ala637=)
c.70+615C>G (n.70+615C>G)
Xg.47574073G>TCA516353283SYN1c.1911C>A (p.Ala637=)
c.70+615C>A (n.70+615C>A)
 gnomAD v4
Xg.47574074G>ACA412822188SYN1c.1910C>T (p.Ala637Val)
c.70+614C>T (n.70+614C>T)
 gnomAD v4
Xg.47574074G>CCA412822189SYN1c.1910C>G (p.Ala637Gly)
c.70+614C>G (n.70+614C>G)
Xg.47574074G>TCA412822192SYN1c.1910C>A (p.Ala637Asp)
c.70+614C>A (n.70+614C>A)
 gnomAD v4
Xg.47574075C>ACA412822194SYN1c.1909G>T (p.Ala637Ser)
c.70+613G>T (n.70+613G>T)
 gnomAD v4
Xg.47574075C>GCA412822198SYN1c.1909G>C (p.Ala637Pro)
c.70+613G>C (n.70+613G>C)
Xg.47574075C>TCA412822195SYN1c.1909G>A (p.Ala637Thr)
c.70+613G>A (n.70+613G>A)
Xg.47574076C>ACA516353286SYN1c.1908G>T (p.Leu636=)
c.70+612G>T (n.70+612G>T)
 gnomAD v4
Xg.47574076C>GCA516353287SYN1c.1908G>C (p.Leu636=)
c.70+612G>C (n.70+612G>C)
Xg.47574076C>TCA516353288SYN1c.1908G>A (p.Leu636=)
c.70+612G>A (n.70+612G>A)
 gnomAD v4
Xg.47574077A>CCA412822200SYN1c.1907T>G (p.Leu636Arg)
c.70+611T>G (n.70+611T>G)
Xg.47574077A>GCA412822201SYN1c.1907T>C (p.Leu636Pro)
c.70+611T>C (n.70+611T>C)
 gnomAD v4
Xg.47574077A>TCA412822203SYN1c.1907T>A (p.Leu636Gln)
c.70+611T>A (n.70+611T>A)
Xg.47574078G>ACA516353291SYN1c.1906C>T (p.Leu636=)
c.70+610C>T (n.70+610C>T)
 gnomAD v4
Xg.47574078G>CCA412822206SYN1c.1906C>G (p.Leu636Val)
c.70+610C>G (n.70+610C>G)
Xg.47574078G>TCA412822207SYN1c.1906C>A (p.Leu636Met)
c.70+610C>A (n.70+610C>A)
 gnomAD v4
Xg.47574082_47574194delCA2580101019SYN1c.1794_1906del (p.Thr601GlufsTer?)
c.70+498_70+610del (n.70+498_70+610del)
 ClinVar
Xg.47574079C>ACA412822209SYN1c.1905G>T (p.Gln635His)
c.70+609G>T (n.70+609G>T)
 ClinVar gnomAD v4
Xg.47574079C=CA2427971178SYN1c.1905G= (p.Gln635=)
c.70+609G= (n.70+609G=)
Xg.47574079C>GCA412822211SYN1c.1905G>C (p.Gln635His)
c.70+609G>C (n.70+609G>C)
Xg.47574079C>TCA516353293SYN1c.1905G>A (p.Gln635=)
c.70+609G>A (n.70+609G>A)
 dbSNP gnomAD v4
Xg.47574080T>ACA412822220SYN1c.1904A>T (p.Gln635Leu)
c.70+608A>T (n.70+608A>T)
Xg.47574080T>CCA412822222SYN1c.1904A>G (p.Gln635Arg)
c.70+608A>G (n.70+608A>G)
 gnomAD v4
Xg.47574080T>GCA412822223SYN1c.1904A>C (p.Gln635Pro)
c.70+608A>C (n.70+608A>C)
Xg.47574081G>ACA412822224SYN1c.1903C>T (p.Gln635Ter)
c.70+607C>T (n.70+607C>T)
 gnomAD v4
Xg.47574081G>CCA412822226SYN1c.1903C>G (p.Gln635Glu)
c.70+607C>G (n.70+607C>G)
Xg.47574081G>TCA412822225SYN1c.1903C>A (p.Gln635Lys)
c.70+607C>A (n.70+607C>A)
 gnomAD v4
Xg.47574082T>ACA516353296SYN1c.1902A>T (p.Pro634=)
c.70+606A>T (n.70+606A>T)
Xg.47574082T>CCA516353298SYN1c.1902A>G (p.Pro634=)
c.70+606A>G (n.70+606A>G)
Xg.47574082T>GCA516353299SYN1c.1902A>C (p.Pro634=)
c.70+606A>C (n.70+606A>C)
Xg.47574083G>ACA412822227SYN1c.1901C>T (p.Pro634Leu)
c.70+605C>T (n.70+605C>T)
Xg.47574083G>CCA412822229SYN1c.1901C>G (p.Pro634Arg)
c.70+605C>G (n.70+605C>G)
Xg.47574083G>TCA412822228SYN1c.1901C>A (p.Pro634Gln)
c.70+605C>A (n.70+605C>A)
 gnomAD v4
Xg.47574084G>ACA412822230SYN1c.1900C>T (p.Pro634Ser)
c.70+604C>T (n.70+604C>T)
 dbSNP gnomAD v4
Xg.47574084G>CCA412822232SYN1c.1900C>G (p.Pro634Ala)
c.70+604C>G (n.70+604C>G)
 gnomAD v4
Xg.47574084G>TCA412822231SYN1c.1900C>A (p.Pro634Thr)
c.70+604C>A (n.70+604C>A)
 gnomAD v4
Xg.47574084_47574085insCCA2565733911SYN1c.1899_1900insG (p.Pro634AlafsTer?)
c.70+603_70+604insG (n.70+603_70+604insG)
Xg.47574085T>ACA412822233SYN1c.1899A>T (p.Lys633Asn)
c.70+603A>T (n.70+603A>T)
Xg.47574085T>CCA516353300SYN1c.1899A>G (p.Lys633=)
c.70+603A>G (n.70+603A>G)
Xg.47574085T>GCA412822234SYN1c.1899A>C (p.Lys633Asn)
c.70+603A>C (n.70+603A>C)
Xg.47574086T>ACA412822235SYN1c.1898A>T (p.Lys633Ile)
c.70+602A>T (n.70+602A>T)
Xg.47574086T>CCA412822236SYN1c.1898A>G (p.Lys633Arg)
c.70+602A>G (n.70+602A>G)
 gnomAD v4
Xg.47574086T>GCA412822237SYN1c.1898A>C (p.Lys633Thr)
c.70+602A>C (n.70+602A>C)
Xg.47574086T=CA2427971179SYN1c.1898A= (p.Lys633=)
c.70+602A= (n.70+602A=)
Xg.47574086_47574087insGGCA2537905157SYN1c.1897_1898insCC (p.Lys633ThrfsTer?)
c.70+601_70+602insCC (n.70+601_70+602insCC)
Xg.47574087T>ACA412822238SYN1c.1897A>T (p.Lys633Ter)
c.70+601A>T (n.70+601A>T)
Xg.47574087T>CCA412822239SYN1c.1897A>G (p.Lys633Glu)
c.70+601A>G (n.70+601A>G)
Xg.47574087T>GCA412822240SYN1c.1897A>C (p.Lys633Gln)
c.70+601A>C (n.70+601A>C)
Xg.47574087_47574089dupCA2427971180SYN1c.1895_1897dup (p.Pro632_Lys633insThr)
c.70+599_70+601dup (n.70+599_70+601dup)
 dbSNP
Xg.47574088G>ACA516353307SYN1c.1896C>T (p.Pro632=)
c.70+600C>T (n.70+600C>T)
 gnomAD v4
Xg.47574088G>CCA516353308SYN1c.1896C>G (p.Pro632=)
c.70+600C>G (n.70+600C>G)
Xg.47574088G>TCA516353309SYN1c.1896C>A (p.Pro632=)
c.70+600C>A (n.70+600C>A)
 gnomAD v4
Xg.47574089G>ACA412822241SYN1c.1895C>T (p.Pro632Leu)
c.70+599C>T (n.70+599C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574089G>CCA412822242SYN1c.1895C>G (p.Pro632Arg)
c.70+599C>G (n.70+599C>G)
Xg.47574089G=CA2427971181SYN1c.1895C= (p.Pro632=)
c.70+599C= (n.70+599C=)
Xg.47574089G>TCA412822243SYN1c.1895C>A (p.Pro632His)
c.70+599C>A (n.70+599C>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574090G>ACA412822246SYN1c.1894C>T (p.Pro632Ser)
c.70+598C>T (n.70+598C>T)
 gnomAD v4
Xg.47574090G>CCA412822245SYN1c.1894C>G (p.Pro632Ala)
c.70+598C>G (n.70+598C>G)
Xg.47574090G>TCA412822244SYN1c.1894C>A (p.Pro632Thr)
c.70+598C>A (n.70+598C>A)
 gnomAD v4
Xg.47574091A>CCA516353313SYN1c.1893T>G (p.Arg631=)
c.70+597T>G (n.70+597T>G)
Xg.47574091A>GCA516353314SYN1c.1893T>C (p.Arg631=)
c.70+597T>C (n.70+597T>C)
 gnomAD v4
Xg.47574091A>TCA516353315SYN1c.1893T>A (p.Arg631=)
c.70+597T>A (n.70+597T>A)
Xg.47574092C>ACA412822247SYN1c.1892G>T (p.Arg631Leu)
c.70+596G>T (n.70+596G>T)
 gnomAD v4
Xg.47574092C>GCA412822248SYN1c.1892G>C (p.Arg631Pro)
c.70+596G>C (n.70+596G>C)
 gnomAD v4
Xg.47574092C>TCA412822249SYN1c.1892G>A (p.Arg631His)
c.70+596G>A (n.70+596G>A)
 gnomAD v4
Xg.47574093G>ACA412822250SYN1c.1891C>T (p.Arg631Cys)
c.70+595C>T (n.70+595C>T)
 gnomAD v4
Xg.47574093G>CCA412822251SYN1c.1891C>G (p.Arg631Gly)
c.70+595C>G (n.70+595C>G)
Xg.47574093G>TCA412822252SYN1c.1891C>A (p.Arg631Ser)
c.70+595C>A (n.70+595C>A)
 gnomAD v4
Xg.47574094T>ACA516353319SYN1c.1890A>T (p.Gly630=)
c.70+594A>T (n.70+594A>T)
Xg.47574094T>CCA516353320SYN1c.1890A>G (p.Gly630=)
c.70+594A>G (n.70+594A>G)
 gnomAD v4
Xg.47574094T>GCA516353321SYN1c.1890A>C (p.Gly630=)
c.70+594A>C (n.70+594A>C)
Xg.47574095C>ACA412822253SYN1c.1889G>T (p.Gly630Val)
c.70+593G>T (n.70+593G>T)
 gnomAD v4
Xg.47574095C>GCA412822254SYN1c.1889G>C (p.Gly630Ala)
c.70+593G>C (n.70+593G>C)
Xg.47574095C>TCA412822255SYN1c.1889G>A (p.Gly630Glu)
c.70+593G>A (n.70+593G>A)
 gnomAD v4
Xg.47574096C>ACA412822256SYN1c.1888G>T (p.Gly630Ter)
c.70+592G>T (n.70+592G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574096C=CA2427971182SYN1c.1888G= (p.Gly630=)
c.70+592G= (n.70+592G=)
Xg.47574096C>GCA412822257SYN1c.1888G>C (p.Gly630Arg)
c.70+592G>C (n.70+592G>C)
 gnomAD v4
Xg.47574096C>TCA412822258SYN1c.1888G>A (p.Gly630Arg)
c.70+592G>A (n.70+592G>A)
 gnomAD v4
Xg.47574097A=CA2427971183SYN1c.1887T= (p.Ala629=)
c.70+591T= (n.70+591T=)
Xg.47574097A>CCA516353324SYN1c.1887T>G (p.Ala629=)
c.70+591T>G (n.70+591T>G)
Xg.47574097A>GCA516353325SYN1c.1887T>C (p.Ala629=)
c.70+591T>C (n.70+591T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574097A>TCA516353323SYN1c.1887T>A (p.Ala629=)
c.70+591T>A (n.70+591T>A)
 gnomAD v4
Xg.47574098G>ACA412822261SYN1c.1886C>T (p.Ala629Val)
c.70+590C>T (n.70+590C>T)
 gnomAD v4
Xg.47574098G>CCA412822260SYN1c.1886C>G (p.Ala629Gly)
c.70+590C>G (n.70+590C>G)
Xg.47574098G>TCA412822259SYN1c.1886C>A (p.Ala629Asp)
c.70+590C>A (n.70+590C>A)
 gnomAD v4
Xg.47574099C>ACA412822262SYN1c.1885G>T (p.Ala629Ser)
c.70+589G>T (n.70+589G>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574099C=CA2427971184SYN1c.1885G= (p.Ala629=)
c.70+589G= (n.70+589G=)
Xg.47574099C>GCA412822263SYN1c.1885G>C (p.Ala629Pro)
c.70+589G>C (n.70+589G>C)
 gnomAD v4
Xg.47574099C>TCA412822264SYN1c.1885G>A (p.Ala629Thr)
c.70+589G>A (n.70+589G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574100G>ACA516353327SYN1c.1884C>T (p.Pro628=)
c.70+588C>T (n.70+588C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574100G>CCA516353328SYN1c.1884C>G (p.Pro628=)
c.70+588C>G (n.70+588C>G)
Xg.47574100G>TCA516353329SYN1c.1884C>A (p.Pro628=)
c.70+588C>A (n.70+588C>A)
 gnomAD v4
Xg.47574103delCA2523321858SYN1c.1884del (p.Ala629LeufsTer?)
c.70+588del (n.70+588del)
 gnomAD v4
Xg.47574102_47574103delCA2579596676SYN1c.1883_1884del (p.Pro628ArgfsTer?)
c.70+587_70+588del (n.70+587_70+588del)
 gnomAD v4
Xg.47574101G>ACA412822265SYN1c.1883C>T (p.Pro628Leu)
c.70+587C>T (n.70+587C>T)
 gnomAD v4
Xg.47574101G>CCA412822266SYN1c.1883C>G (p.Pro628Arg)
c.70+587C>G (n.70+587C>G)
Xg.47574101G>TCA412822267SYN1c.1883C>A (p.Pro628His)
c.70+587C>A (n.70+587C>A)
 gnomAD v4
Xg.47574102G>ACA412822268SYN1c.1882C>T (p.Pro628Ser)
c.70+586C>T (n.70+586C>T)
 gnomAD v4
Xg.47574102G>CCA412822269SYN1c.1882C>G (p.Pro628Ala)
c.70+586C>G (n.70+586C>G)
Xg.47574102G>TCA412822270SYN1c.1882C>A (p.Pro628Thr)
c.70+586C>A (n.70+586C>A)
 gnomAD v4
Xg.47574103G>ACA10398345SYN1c.1881C>T (p.Gly627=)
c.70+585C>T (n.70+585C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574103G>CCA516353331SYN1c.1881C>G (p.Gly627=)
c.70+585C>G (n.70+585C>G)
Xg.47574103G=CA2427971185SYN1c.1881C= (p.Gly627=)
c.70+585C= (n.70+585C=)
Xg.47574103G>TCA516353330SYN1c.1881C>A (p.Gly627=)
c.70+585C>A (n.70+585C>A)
 gnomAD v4
Xg.47574104C>ACA412822272SYN1c.1880G>T (p.Gly627Val)
c.70+584G>T (n.70+584G>T)
 gnomAD v4
Xg.47574104C>GCA412822273SYN1c.1880G>C (p.Gly627Ala)
c.70+584G>C (n.70+584G>C)
Xg.47574104C>TCA412822274SYN1c.1880G>A (p.Gly627Asp)
c.70+584G>A (n.70+584G>A)
 gnomAD v4
Xg.47574106delCA2693584636SYN1c.1880del (p.Gly627AlafsTer?)
c.70+584del (n.70+584del)
 gnomAD v4
Xg.47574105C>ACA412822278SYN1c.1879G>T (p.Gly627Cys)
c.70+583G>T (n.70+583G>T)
 gnomAD v4
Xg.47574105C>GCA412822276SYN1c.1879G>C (p.Gly627Arg)
c.70+583G>C (n.70+583G>C)
Xg.47574105C>TCA412822277SYN1c.1879G>A (p.Gly627Ser)
c.70+583G>A (n.70+583G>A)
 gnomAD v4
Xg.47574106C>ACA516353332SYN1c.1878G>T (p.Pro626=)
c.70+582G>T (n.70+582G>T)
 gnomAD v4
Xg.47574106C=CA2427971186SYN1c.1878G= (p.Pro626=)
c.70+582G= (n.70+582G=)
Xg.47574106C>GCA516353333SYN1c.1878G>C (p.Pro626=)
c.70+582G>C (n.70+582G>C)
 gnomAD v4
Xg.47574106C>TCA516353334SYN1c.1878G>A (p.Pro626=)
c.70+582G>A (n.70+582G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574107G>ACA412822280SYN1c.1877C>T (p.Pro626Leu)
c.70+581C>T (n.70+581C>T)
 gnomAD v4
Xg.47574107G>CCA412822281SYN1c.1877C>G (p.Pro626Arg)
c.70+581C>G (n.70+581C>G)
Xg.47574107G>TCA412822282SYN1c.1877C>A (p.Pro626Gln)
c.70+581C>A (n.70+581C>A)
 gnomAD v4
Xg.47574108G>ACA412822284SYN1c.1876C>T (p.Pro626Ser)
c.70+580C>T (n.70+580C>T)
Xg.47574108G>CCA412822285SYN1c.1876C>G (p.Pro626Ala)
c.70+580C>G (n.70+580C>G)
Xg.47574108G>TCA412822287SYN1c.1876C>A (p.Pro626Thr)
c.70+580C>A (n.70+580C>A)
 gnomAD v4
Xg.47574109G>ACA516353337SYN1c.1875C>T (p.Gly625=)
c.70+579C>T (n.70+579C>T)
 gnomAD v4
Xg.47574109G>CCA516353338SYN1c.1875C>G (p.Gly625=)
c.70+579C>G (n.70+579C>G)
Xg.47574109G>TCA516353339SYN1c.1875C>A (p.Gly625=)
c.70+579C>A (n.70+579C>A)
 gnomAD v4
Xg.47574110C>ACA412822289SYN1c.1874G>T (p.Gly625Val)
c.70+578G>T (n.70+578G>T)
 gnomAD v4
Xg.47574110C>GCA412822291SYN1c.1874G>C (p.Gly625Ala)
c.70+578G>C (n.70+578G>C)
Xg.47574110C>TCA412822292SYN1c.1874G>A (p.Gly625Asp)
c.70+578G>A (n.70+578G>A)
 gnomAD v4
Xg.47574110_47574111dupCA2579596677SYN1c.1873_1874dup (p.Pro626AlafsTer?)
c.70+577_70+578dup (n.70+577_70+578dup)
 gnomAD v4
Xg.47574111C>ACA412822294SYN1c.1873G>T (p.Gly625Cys)
c.70+577G>T (n.70+577G>T)
 gnomAD v4
Xg.47574111C>GCA412822296SYN1c.1873G>C (p.Gly625Arg)
c.70+577G>C (n.70+577G>C)
Xg.47574111C>TCA412822297SYN1c.1873G>A (p.Gly625Ser)
c.70+577G>A (n.70+577G>A)
 gnomAD v4
Xg.47574112G>ACA516353343SYN1c.1872C>T (p.Ser624=)
c.70+576C>T (n.70+576C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574112G>CCA412822299SYN1c.1872C>G (p.Ser624Arg)
c.70+576C>G (n.70+576C>G)
 gnomAD v4
Xg.47574112G=CA2427971187SYN1c.1872C= (p.Ser624=)
c.70+576C= (n.70+576C=)
Xg.47574112G>TCA412822300SYN1c.1872C>A (p.Ser624Arg)
c.70+576C>A (n.70+576C>A)
 gnomAD v4
Xg.47574113C>ACA412822302SYN1c.1871G>T (p.Ser624Ile)
c.70+575G>T (n.70+575G>T)
 gnomAD v4
Xg.47574113C>GCA412822306SYN1c.1871G>C (p.Ser624Thr)
c.70+575G>C (n.70+575G>C)
Xg.47574113C>TCA412822304SYN1c.1871G>A (p.Ser624Asn)
c.70+575G>A (n.70+575G>A)
 gnomAD v4
Xg.47574114T>ACA412822307SYN1c.1870A>T (p.Ser624Cys)
c.70+574A>T (n.70+574A>T)
Xg.47574114T>CCA412822308SYN1c.1870A>G (p.Ser624Gly)
c.70+574A>G (n.70+574A>G)
 gnomAD v4
Xg.47574114T>GCA412822309SYN1c.1870A>C (p.Ser624Arg)
c.70+574A>C (n.70+574A>C)
Xg.47574115G>ACA516353347SYN1c.1869C>T (p.Pro623=)
c.70+573C>T (n.70+573C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574115G>CCA516353348SYN1c.1869C>G (p.Pro623=)
c.70+573C>G (n.70+573C>G)
Xg.47574115G=CA2427971188SYN1c.1869C= (p.Pro623=)
c.70+573C= (n.70+573C=)
Xg.47574115G>TCA516353349SYN1c.1869C>A (p.Pro623=)
c.70+573C>A (n.70+573C>A)
 gnomAD v4

Number of alleles fetched