Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.47574293G>A | CA412822879 | SYN1 | c.1691C>T (p.Thr564Ile) c.70+395C>T (n.70+395C>T) | gnomAD v4 |
X | g.47574293G>C | CA412822880 | SYN1 | c.1691C>G (p.Thr564Ser) c.70+395C>G (n.70+395C>G) | |
X | g.47574293G>T | CA412822882 | SYN1 | c.1691C>A (p.Thr564Asn) c.70+395C>A (n.70+395C>A) | gnomAD v4 |
X | g.47574294T>A | CA412822884 | SYN1 | c.1690A>T (p.Thr564Ser) c.70+394A>T (n.70+394A>T) | |
X | g.47574294T>C | CA412822885 | SYN1 | c.1690A>G (p.Thr564Ala) c.70+394A>G (n.70+394A>G) | gnomAD v4 |
X | g.47574294T>G | CA412822887 | SYN1 | c.1690A>C (p.Thr564Pro) c.70+394A>C (n.70+394A>C) | |
X | g.47574295A>C | CA516353873 | SYN1 | c.1689T>G (p.Ala563=) c.70+393T>G (n.70+393T>G) | |
X | g.47574295A>G | CA516353874 | SYN1 | c.1689T>C (p.Ala563=) c.70+393T>C (n.70+393T>C) | gnomAD v4 |
X | g.47574295A>T | CA516353875 | SYN1 | c.1689T>A (p.Ala563=) c.70+393T>A (n.70+393T>A) | gnomAD v4 |
X | g.47574296G>A | CA412822888 | SYN1 | c.1688C>T (p.Ala563Val) c.70+392C>T (n.70+392C>T) | gnomAD v4 |
X | g.47574296G>C | CA412822890 | SYN1 | c.1688C>G (p.Ala563Gly) c.70+392C>G (n.70+392C>G) | |
X | g.47574296G>T | CA412822891 | SYN1 | c.1688C>A (p.Ala563Asp) c.70+392C>A (n.70+392C>A) | gnomAD v4 |
X | g.47574297C>A | CA412822895 | SYN1 | c.1687G>T (p.Ala563Ser) c.70+391G>T (n.70+391G>T) | gnomAD v4 |
X | g.47574297C>G | CA412822892 | SYN1 | c.1687G>C (p.Ala563Pro) c.70+391G>C (n.70+391G>C) | |
X | g.47574297C>T | CA412822894 | SYN1 | c.1687G>A (p.Ala563Thr) c.70+391G>A (n.70+391G>A) | gnomAD v4 |
X | g.47574298C>A | CA412822896 | SYN1 | c.1686G>T (p.Gln562His) c.70+390G>T (n.70+390G>T) | gnomAD v4 |
X | g.47574298C>G | CA412822897 | SYN1 | c.1686G>C (p.Gln562His) c.70+390G>C (n.70+390G>C) | |
X | g.47574298C>T | CA516353877 | SYN1 | c.1686G>A (p.Gln562=) c.70+390G>A (n.70+390G>A) | gnomAD v4 |
X | g.47574299T>A | CA412822898 | SYN1 | c.1685A>T (p.Gln562Leu) c.70+389A>T (n.70+389A>T) | |
X | g.47574299T>C | CA412822899 | SYN1 | c.1685A>G (p.Gln562Arg) c.70+389A>G (n.70+389A>G) | gnomAD v4 |
X | g.47574299T>G | CA412822900 | SYN1 | c.1685A>C (p.Gln562Pro) c.70+389A>C (n.70+389A>C) | |
X | g.47574300G>A | CA412822901 | SYN1 | c.1684C>T (p.Gln562Ter) c.70+388C>T (n.70+388C>T) | gnomAD v4 |
X | g.47574300G>C | CA412822902 | SYN1 | c.1684C>G (p.Gln562Glu) c.70+388C>G (n.70+388C>G) | |
X | g.47574300G>T | CA412822904 | SYN1 | c.1684C>A (p.Gln562Lys) c.70+388C>A (n.70+388C>A) | gnomAD v4 |
X | g.47574301T>A | CA516353881 | SYN1 | c.1683A>T (p.Pro561=) c.70+387A>T (n.70+387A>T) | gnomAD v4 |
X | g.47574301T>C | CA516353882 | SYN1 | c.1683A>G (p.Pro561=) c.70+387A>G (n.70+387A>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574301T>G | CA516353883 | SYN1 | c.1683A>C (p.Pro561=) c.70+387A>C (n.70+387A>C) | gnomAD v4 |
X | g.47574302G>A | CA412822905 | SYN1 | c.1682C>T (p.Pro561Leu) c.70+386C>T (n.70+386C>T) | gnomAD v4 |
X | g.47574302G>C | CA412822906 | SYN1 | c.1682C>G (p.Pro561Arg) c.70+386C>G (n.70+386C>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574302G>T | CA412822907 | SYN1 | c.1682C>A (p.Pro561Gln) c.70+386C>A (n.70+386C>A) | gnomAD v4 |
X | g.47574307dup | CA641900875 | SYN1 | c.1682dup (p.Gln562ThrfsTer?) c.70+386dup (n.70+386dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574307del | CA641900874 | SYN1 | c.1682del (p.Pro561HisfsTer?) c.70+386del (n.70+386del) | gnomAD v2 gnomAD v4 |
X | g.47574303G>A | CA412822911 | SYN1 | c.1681C>T (p.Pro561Ser) c.70+385C>T (n.70+385C>T) | gnomAD v4 |
X | g.47574303G>C | CA412822913 | SYN1 | c.1681C>G (p.Pro561Ala) c.70+385C>G (n.70+385C>G) | |
X | g.47574303G>T | CA412822909 | SYN1 | c.1681C>A (p.Pro561Thr) c.70+385C>A (n.70+385C>A) | gnomAD v4 |
X | g.47574304G>A | CA516353885 | SYN1 | c.1680C>T (p.Pro560=) c.70+384C>T (n.70+384C>T) | gnomAD v4 |
X | g.47574304G>C | CA516353886 | SYN1 | c.1680C>G (p.Pro560=) c.70+384C>G (n.70+384C>G) | |
X | g.47574304G>T | CA516353887 | SYN1 | c.1680C>A (p.Pro560=) c.70+384C>A (n.70+384C>A) | ClinVar gnomAD v4 |
X | g.47574305G>A | CA412822914 | SYN1 | c.1679C>T (p.Pro560Leu) c.70+383C>T (n.70+383C>T) | gnomAD v4 |
X | g.47574305G>C | CA412822916 | SYN1 | c.1679C>G (p.Pro560Arg) c.70+383C>G (n.70+383C>G) | gnomAD v4 |
X | g.47574305G>T | CA412822917 | SYN1 | c.1679C>A (p.Pro560His) c.70+383C>A (n.70+383C>A) | gnomAD v4 |
X | g.47574306G>A | CA412822920 | SYN1 | c.1678C>T (p.Pro560Ser) c.70+382C>T (n.70+382C>T) | gnomAD v4 |
X | g.47574306G>C | CA412822921 | SYN1 | c.1678C>G (p.Pro560Ala) c.70+382C>G (n.70+382C>G) | |
X | g.47574306G= | CA2427971252 | SYN1 | c.1678C= (p.Pro560=) c.70+382C= (n.70+382C=) | |
X | g.47574306G>T | CA412822923 | SYN1 | c.1678C>A (p.Pro560Thr) c.70+382C>A (n.70+382C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574307G>A | CA516353891 | SYN1 | c.1677C>T (p.Gly559=) c.70+381C>T (n.70+381C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574307G>C | CA516353892 | SYN1 | c.1677C>G (p.Gly559=) c.70+381C>G (n.70+381C>G) | ClinVar dbSNP |
X | g.47574307G>T | CA516353893 | SYN1 | c.1677C>A (p.Gly559=) c.70+381C>A (n.70+381C>A) | gnomAD v4 |
X | g.47574308C>A | CA412822924 | SYN1 | c.1676G>T (p.Gly559Val) c.70+380G>T (n.70+380G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574308C= | CA2427971253 | SYN1 | c.1676G= (p.Gly559=) c.70+380G= (n.70+380G=) | |
X | g.47574308C>G | CA412822926 | SYN1 | c.1676G>C (p.Gly559Ala) c.70+380G>C (n.70+380G>C) | gnomAD v4 |
X | g.47574308C>T | CA412822927 | SYN1 | c.1676G>A (p.Gly559Asp) c.70+380G>A (n.70+380G>A) | gnomAD v4 |
X | g.47574309C>A | CA412822929 | SYN1 | c.1675G>T (p.Gly559Cys) c.70+379G>T (n.70+379G>T) | gnomAD v4 |
X | g.47574309C>G | CA412822930 | SYN1 | c.1675G>C (p.Gly559Arg) c.70+379G>C (n.70+379G>C) | |
X | g.47574309C>T | CA412822932 | SYN1 | c.1675G>A (p.Gly559Ser) c.70+379G>A (n.70+379G>A) | gnomAD v4 |
X | g.47574310C>A | CA516353897 | SYN1 | c.1674G>T (p.Ala558=) c.70+378G>T (n.70+378G>T) | gnomAD v4 |
X | g.47574310C= | CA2427971254 | SYN1 | c.1674G= (p.Ala558=) c.70+378G= (n.70+378G=) | |
X | g.47574310C>G | CA516353898 | SYN1 | c.1674G>C (p.Ala558=) c.70+378G>C (n.70+378G>C) | |
X | g.47574310C>T | CA516353899 | SYN1 | c.1674G>A (p.Ala558=) c.70+378G>A (n.70+378G>A) | dbSNP gnomAD v4 |
X | g.47574311G>A | CA412822936 | SYN1 | c.1673C>T (p.Ala558Val) c.70+377C>T (n.70+377C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.47574311G>C | CA412822937 | SYN1 | c.1673C>G (p.Ala558Gly) c.70+377C>G (n.70+377C>G) | gnomAD v4 |
X | g.47574311G>T | CA412822935 | SYN1 | c.1673C>A (p.Ala558Glu) c.70+377C>A (n.70+377C>A) | gnomAD v4 |
X | g.47574312C>A | CA412822939 | SYN1 | c.1672G>T (p.Ala558Ser) c.70+376G>T (n.70+376G>T) | gnomAD v4 |
X | g.47574312C= | CA2427971255 | SYN1 | c.1672G= (p.Ala558=) c.70+376G= (n.70+376G=) | |
X | g.47574312C>G | CA412822941 | SYN1 | c.1672G>C (p.Ala558Pro) c.70+376G>C (n.70+376G>C) | |
X | g.47574312C>T | CA412822942 | SYN1 | c.1672G>A (p.Ala558Thr) c.70+376G>A (n.70+376G>A) | dbSNP |
X | g.47574313C>A | CA412822944 | SYN1 | c.1671G>T (p.Gln557His) c.70+375G>T (n.70+375G>T) | gnomAD v4 |
X | g.47574313C>G | CA412822946 | SYN1 | c.1671G>C (p.Gln557His) c.70+375G>C (n.70+375G>C) | |
X | g.47574313C>T | CA516353902 | SYN1 | c.1671G>A (p.Gln557=) c.70+375G>A (n.70+375G>A) | |
X | g.47574314T>A | CA412822951 | SYN1 | c.1670A>T (p.Gln557Leu) c.70+374A>T (n.70+374A>T) | |
X | g.47574314T>C | CA412822947 | SYN1 | c.1670A>G (p.Gln557Arg) c.70+374A>G (n.70+374A>G) | gnomAD v4 |
X | g.47574314T>G | CA412822949 | SYN1 | c.1670A>C (p.Gln557Pro) c.70+374A>C (n.70+374A>C) | |
X | g.47574315G>A | CA412822953 | SYN1 | c.1669C>T (p.Gln557Ter) c.70+373C>T (n.70+373C>T) | gnomAD v4 |
X | g.47574315G>C | CA412822955 | SYN1 | c.1669C>G (p.Gln557Glu) c.70+373C>G (n.70+373C>G) | |
X | g.47574315G>T | CA412822958 | SYN1 | c.1669C>A (p.Gln557Lys) c.70+373C>A (n.70+373C>A) | |
X | g.47574316del | CA2693585148 | SYN1 | c.1669del (p.Gln557ArgfsTer?) c.70+373del (n.70+373del) | gnomAD v4 |
X | g.47574316G>A | CA516353903 | SYN1 | c.1668C>T (p.Arg556=) c.70+372C>T (n.70+372C>T) | gnomAD v4 |
X | g.47574316G>C | CA516353904 | SYN1 | c.1668C>G (p.Arg556=) c.70+372C>G (n.70+372C>G) | |
X | g.47574316G= | CA2427971256 | SYN1 | c.1668C= (p.Arg556=) c.70+372C= (n.70+372C=) | |
X | g.47574316G>T | CA516353905 | SYN1 | c.1668C>A (p.Arg556=) c.70+372C>A (n.70+372C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574317C>A | CA412822959 | SYN1 | c.1667G>T (p.Arg556Leu) c.70+371G>T (n.70+371G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574317C= | CA2427971257 | SYN1 | c.1667G= (p.Arg556=) c.70+371G= (n.70+371G=) | |
X | g.47574317C>G | CA329057253 | SYN1 | c.1667G>C (p.Arg556Pro) c.70+371G>C (n.70+371G>C) | dbSNP |
X | g.47574317C>T | CA412822961 | SYN1 | c.1667G>A (p.Arg556His) c.70+371G>A (n.70+371G>A) | gnomAD v4 |
X | g.47574318G>A | CA412822965 | SYN1 | c.1666C>T (p.Arg556Cys) c.70+370C>T (n.70+370C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574318G>C | CA412822966 | SYN1 | c.1666C>G (p.Arg556Gly) c.70+370C>G (n.70+370C>G) | |
X | g.47574318G= | CA2427971258 | SYN1 | c.1666C= (p.Arg556=) c.70+370C= (n.70+370C=) | |
X | g.47574318G>T | CA412822963 | SYN1 | c.1666C>A (p.Arg556Ser) c.70+370C>A (n.70+370C>A) | dbSNP gnomAD v4 |
X | g.47574319C>A | CA318964 | SYN1 | c.1665G>T (p.Gln555His) c.70+369G>T (n.70+369G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574319C= | CA2427971259 | SYN1 | c.1665G= (p.Gln555=) c.70+369G= (n.70+369G=) | |
X | g.47574319C>G | CA412822968 | SYN1 | c.1665G>C (p.Gln555His) c.70+369G>C (n.70+369G>C) | gnomAD v4 |
X | g.47574319C>T | CA516353909 | SYN1 | c.1665G>A (p.Gln555=) c.70+369G>A (n.70+369G>A) | gnomAD v4 |
X | g.47574320T>A | CA412822970 | SYN1 | c.1664A>T (p.Gln555Leu) c.70+368A>T (n.70+368A>T) | |
X | g.47574320T>C | CA412822972 | SYN1 | c.1664A>G (p.Gln555Arg) c.70+368A>G (n.70+368A>G) | gnomAD v4 |
X | g.47574320T>G | CA412822973 | SYN1 | c.1664A>C (p.Gln555Pro) c.70+368A>C (n.70+368A>C) | |
X | g.47574320_47574321delinsTG | CA2427971260 | SYN1 | c.1663_1664delinsCA (p.Gln555=) c.70+367_70+368delinsCA (n.70+367_70+368delinsCA) | |
X | g.47574321G>A | CA130885 | SYN1 | c.1663C>T (p.Gln555Ter) c.70+367C>T (n.70+367C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574321G>C | CA412822976 | SYN1 | c.1663C>G (p.Gln555Glu) c.70+367C>G (n.70+367C>G) | |
X | g.47574321G= | CA2427971261 | SYN1 | c.1663C= (p.Gln555=) c.70+367C= (n.70+367C=) | |
X | g.47574321G>T | CA412822978 | SYN1 | c.1663C>A (p.Gln555Lys) c.70+367C>A (n.70+367C>A) | gnomAD v4 |
X | g.47574324del | CA641900876 | SYN1 | c.1663del (p.Gln555SerfsTer?) c.70+367del (n.70+367del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574322G>A | CA516353916 | SYN1 | c.1662C>T (p.Pro554=) c.70+366C>T (n.70+366C>T) | gnomAD v4 |
X | g.47574322G>C | CA516353915 | SYN1 | c.1662C>G (p.Pro554=) c.70+366C>G (n.70+366C>G) | |
X | g.47574322G= | CA2427971262 | SYN1 | c.1662C= (p.Pro554=) c.70+366C= (n.70+366C=) | |
X | g.47574322G>T | CA516353914 | SYN1 | c.1662C>A (p.Pro554=) c.70+366C>A (n.70+366C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574323G>A | CA412822979 | SYN1 | c.1661C>T (p.Pro554Leu) c.70+365C>T (n.70+365C>T) | gnomAD v4 |
X | g.47574323G>C | CA412822980 | SYN1 | c.1661C>G (p.Pro554Arg) c.70+365C>G (n.70+365C>G) | |
X | g.47574323G>T | CA412822982 | SYN1 | c.1661C>A (p.Pro554His) c.70+365C>A (n.70+365C>A) | gnomAD v4 |
X | g.47574324G>A | CA412822985 | SYN1 | c.1660C>T (p.Pro554Ser) c.70+364C>T (n.70+364C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574324G>C | CA412822986 | SYN1 | c.1660C>G (p.Pro554Ala) c.70+364C>G (n.70+364C>G) | |
X | g.47574324G= | CA2427971263 | SYN1 | c.1660C= (p.Pro554=) c.70+364C= (n.70+364C=) | |
X | g.47574324G>T | CA412822987 | SYN1 | c.1660C>A (p.Pro554Thr) c.70+364C>A (n.70+364C>A) | gnomAD v4 |
X | g.47574325A>C | CA516353917 | SYN1 | c.1659T>G (p.Ser553=) c.70+363T>G (n.70+363T>G) | |
X | g.47574325A>G | CA516353919 | SYN1 | c.1659T>C (p.Ser553=) c.70+363T>C (n.70+363T>C) | gnomAD v4 |
X | g.47574325A>T | CA516353918 | SYN1 | c.1659T>A (p.Ser553=) c.70+363T>A (n.70+363T>A) | dbSNP gnomAD v4 |
X | g.47574326G>A | CA412822992 | SYN1 | c.1658C>T (p.Ser553Phe) c.70+362C>T (n.70+362C>T) | gnomAD v4 |
X | g.47574326G>C | CA412822991 | SYN1 | c.1658C>G (p.Ser553Cys) c.70+362C>G (n.70+362C>G) | |
X | g.47574326G>T | CA412822989 | SYN1 | c.1658C>A (p.Ser553Tyr) c.70+362C>A (n.70+362C>A) | gnomAD v4 |
X | g.47574327A= | CA2427971264 | SYN1 | c.1657T= (p.Ser553=) c.70+361T= (n.70+361T=) | |
X | g.47574327A>C | CA412822994 | SYN1 | c.1657T>G (p.Ser553Ala) c.70+361T>G (n.70+361T>G) | |
X | g.47574327A>G | CA412822995 | SYN1 | c.1657T>C (p.Ser553Pro) c.70+361T>C (n.70+361T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574327A>T | CA412822997 | SYN1 | c.1657T>A (p.Ser553Thr) c.70+361T>A (n.70+361T>A) | |
X | g.47574328del | CA2693585158 | SYN1 | c.1656del (p.Ser553LeufsTer?) c.70+360del (n.70+360del) | gnomAD v4 |
X | g.47574328C>A | CA516353923 | SYN1 | c.1656G>T (p.Pro552=) c.70+360G>T (n.70+360G>T) | gnomAD v4 |
X | g.47574328C= | CA2427971265 | SYN1 | c.1656G= (p.Pro552=) c.70+360G= (n.70+360G=) | |
X | g.47574328C>G | CA516353924 | SYN1 | c.1656G>C (p.Pro552=) c.70+360G>C (n.70+360G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574328C>T | CA329057256 | SYN1 | c.1656G>A (p.Pro552=) c.70+360G>A (n.70+360G>A) | dbSNP gnomAD v4 |
X | g.47574329G>A | CA412822998 | SYN1 | c.1655C>T (p.Pro552Leu) c.70+359C>T (n.70+359C>T) | gnomAD v4 |
X | g.47574329G>C | CA412822999 | SYN1 | c.1655C>G (p.Pro552Arg) c.70+359C>G (n.70+359C>G) | |
X | g.47574329G>T | CA412823000 | SYN1 | c.1655C>A (p.Pro552Gln) c.70+359C>A (n.70+359C>A) | gnomAD v4 |
X | g.47574330del | CA2697553085 | SYN1 | c.1655del (p.Pro552ArgfsTer?) c.70+359del (n.70+359del) | ClinVar |
X | g.47574330G>A | CA412823002 | SYN1 | c.1654C>T (p.Pro552Ser) c.70+358C>T (n.70+358C>T) | ClinVar gnomAD v4 |
X | g.47574330G>C | CA412823003 | SYN1 | c.1654C>G (p.Pro552Ala) c.70+358C>G (n.70+358C>G) | |
X | g.47574330G>T | CA412823005 | SYN1 | c.1654C>A (p.Pro552Thr) c.70+358C>A (n.70+358C>A) | gnomAD v4 |
X | g.47574331A= | CA2427971266 | SYN1 | c.1653T= (p.Ser551=) c.70+357T= (n.70+357T=) | |
X | g.47574331A>C | CA516353928 | SYN1 | c.1653T>G (p.Ser551=) c.70+357T>G (n.70+357T>G) | |
X | g.47574331A>G | CA516353929 | SYN1 | c.1653T>C (p.Ser551=) c.70+357T>C (n.70+357T>C) | gnomAD v4 |
X | g.47574331A>T | CA516353930 | SYN1 | c.1653T>A (p.Ser551=) c.70+357T>A (n.70+357T>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574332G>A | CA412823007 | SYN1 | c.1652C>T (p.Ser551Phe) c.70+356C>T (n.70+356C>T) | gnomAD v4 |
X | g.47574332G>C | CA412823008 | SYN1 | c.1652C>G (p.Ser551Cys) c.70+356C>G (n.70+356C>G) | |
X | g.47574332G>T | CA412823010 | SYN1 | c.1652C>A (p.Ser551Tyr) c.70+356C>A (n.70+356C>A) | gnomAD v4 |
X | g.47574333A>C | CA412823012 | SYN1 | c.1651T>G (p.Ser551Ala) c.70+355T>G (n.70+355T>G) | |
X | g.47574333A>G | CA412823013 | SYN1 | c.1651T>C (p.Ser551Pro) c.70+355T>C (n.70+355T>C) | gnomAD v4 |
X | g.47574333A>T | CA412823015 | SYN1 | c.1651T>A (p.Ser551Thr) c.70+355T>A (n.70+355T>A) | |
X | g.47574333_47574337delinsAGGCG | CA2427971267 | SYN1 | c.1647_1651delinsCGCCT (p.Pro549=) c.70+351_70+355delinsCGCCT (n.70+351_70+355delinsCGCCT) | |
X | g.47574334G>A | CA516353934 | SYN1 | c.1650C>T (p.Ala550=) c.70+354C>T (n.70+354C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574334G>C | CA516353935 | SYN1 | c.1650C>G (p.Ala550=) c.70+354C>G (n.70+354C>G) | |
X | g.47574334G= | CA2427971268 | SYN1 | c.1650C= (p.Ala550=) c.70+354C= (n.70+354C=) | |
X | g.47574334G>T | CA516353936 | SYN1 | c.1650C>A (p.Ala550=) c.70+354C>A (n.70+354C>A) | |
X | g.47574345_47574348dup | CA2579596678 | SYN1 | c.1647_1650dup (p.Ser551ArgfsTer?) c.70+351_70+354dup (n.70+351_70+354dup) | ClinVar |
X | g.47574345_47574348del | CA516353937 | SYN1 | c.1647_1650del (p.Ala550LeufsTer?) c.70+351_70+354del (n.70+351_70+354del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574335G>A | CA412823018 | SYN1 | c.1649C>T (p.Ala550Val) c.70+353C>T (n.70+353C>T) | gnomAD v4 |
X | g.47574335G>C | CA412823020 | SYN1 | c.1649C>G (p.Ala550Gly) c.70+353C>G (n.70+353C>G) | gnomAD v4 |
X | g.47574335G>T | CA412823016 | SYN1 | c.1649C>A (p.Ala550Asp) c.70+353C>A (n.70+353C>A) | gnomAD v4 |
X | g.47574335_47574336delinsAA | CA1139667510 | SYN1 | c.1648_1649delinsTT (p.Ala550Phe) c.70+352_70+353delinsTT (n.70+352_70+353delinsTT) | ClinVar dbSNP |
X | g.47574335_47574336delinsGC | CA2427971269 | SYN1 | c.1648_1649delinsGC (p.Ala550=) c.70+352_70+353delinsGC (n.70+352_70+353delinsGC) | |
X | g.47574336C>A | CA412823022 | SYN1 | c.1648G>T (p.Ala550Ser) c.70+352G>T (n.70+352G>T) | gnomAD v4 |
X | g.47574336C= | CA2427971270 | SYN1 | c.1648G= (p.Ala550=) c.70+352G= (n.70+352G=) | |
X | g.47574336C>G | CA329057259 | SYN1 | c.1648G>C (p.Ala550Pro) c.70+352G>C (n.70+352G>C) | dbSNP gnomAD v4 |
X | g.47574336C>T | CA130887 | SYN1 | c.1648G>A (p.Ala550Thr) c.70+352G>A (n.70+352G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574337G>A | CA516353941 | SYN1 | c.1647C>T (p.Pro549=) c.70+351C>T (n.70+351C>T) | ClinVar gnomAD v4 |
X | g.47574337G>C | CA516353942 | SYN1 | c.1647C>G (p.Pro549=) c.70+351C>G (n.70+351C>G) | |
X | g.47574337G>T | CA516353943 | SYN1 | c.1647C>A (p.Pro549=) c.70+351C>A (n.70+351C>A) | gnomAD v4 |
X | g.47574338G>A | CA412823025 | SYN1 | c.1646C>T (p.Pro549Leu) c.70+350C>T (n.70+350C>T) | ClinVar gnomAD v4 |
X | g.47574338G>C | CA412823027 | SYN1 | c.1646C>G (p.Pro549Arg) c.70+350C>G (n.70+350C>G) | |
X | g.47574338G>T | CA412823028 | SYN1 | c.1646C>A (p.Pro549His) c.70+350C>A (n.70+350C>A) | gnomAD v4 |
X | g.47574339G>A | CA412823030 | SYN1 | c.1645C>T (p.Pro549Ser) c.70+349C>T (n.70+349C>T) | gnomAD v4 |
X | g.47574339G>C | CA412823032 | SYN1 | c.1645C>G (p.Pro549Ala) c.70+349C>G (n.70+349C>G) | |
X | g.47574339G>T | CA412823033 | SYN1 | c.1645C>A (p.Pro549Thr) c.70+349C>A (n.70+349C>A) | gnomAD v4 |
X | g.47574340C>A | CA516353944 | SYN1 | c.1644G>T (p.Pro548=) c.70+348G>T (n.70+348G>T) | gnomAD v4 |
X | g.47574340C= | CA2427971271 | SYN1 | c.1644G= (p.Pro548=) c.70+348G= (n.70+348G=) | |
X | g.47574340C>G | CA329057265 | SYN1 | c.1644G>C (p.Pro548=) c.70+348G>C (n.70+348G>C) | dbSNP |
X | g.47574340C>T | CA516353945 | SYN1 | c.1644G>A (p.Pro548=) c.70+348G>A (n.70+348G>A) | gnomAD v4 |
X | g.47574341G>A | CA412823035 | SYN1 | c.1643C>T (p.Pro548Leu) c.70+347C>T (n.70+347C>T) | gnomAD v4 |
X | g.47574341G>C | CA412823037 | SYN1 | c.1643C>G (p.Pro548Arg) c.70+347C>G (n.70+347C>G) | |
X | g.47574341G>T | CA412823038 | SYN1 | c.1643C>A (p.Pro548Gln) c.70+347C>A (n.70+347C>A) | |
X | g.47574342G>A | CA412823041 | SYN1 | c.1642C>T (p.Pro548Ser) c.70+346C>T (n.70+346C>T) | gnomAD v4 |
X | g.47574342G>C | CA412823039 | SYN1 | c.1642C>G (p.Pro548Ala) c.70+346C>G (n.70+346C>G) | gnomAD v4 |
X | g.47574342G>T | CA412823040 | SYN1 | c.1642C>A (p.Pro548Thr) c.70+346C>A (n.70+346C>A) | |
X | g.47574343G>A | CA516353946 | SYN1 | c.1641C>T (p.Arg547=) c.70+345C>T (n.70+345C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574343G>C | CA516353947 | SYN1 | c.1641C>G (p.Arg547=) c.70+345C>G (n.70+345C>G) | |
X | g.47574343G>T | CA516353948 | SYN1 | c.1641C>A (p.Arg547=) c.70+345C>A (n.70+345C>A) | gnomAD v4 |
X | g.47574344C>A | CA412823043 | SYN1 | c.1640G>T (p.Arg547Leu) c.70+344G>T (n.70+344G>T) | gnomAD v4 |
X | g.47574344C= | CA2427971272 | SYN1 | c.1640G= (p.Arg547=) c.70+344G= (n.70+344G=) | |
X | g.47574344C>G | CA329057267 | SYN1 | c.1640G>C (p.Arg547Pro) c.70+344G>C (n.70+344G>C) | dbSNP gnomAD v4 |
X | g.47574344C>T | CA412823045 | SYN1 | c.1640G>A (p.Arg547His) c.70+344G>A (n.70+344G>A) | gnomAD v4 |
X | g.47574345G>A | CA412823047 | SYN1 | c.1639C>T (p.Arg547Cys) c.70+343C>T (n.70+343C>T) | gnomAD v4 |
X | g.47574345G>C | CA412823048 | SYN1 | c.1639C>G (p.Arg547Gly) c.70+343C>G (n.70+343C>G) | |
X | g.47574345G>T | CA412823050 | SYN1 | c.1639C>A (p.Arg547Ser) c.70+343C>A (n.70+343C>A) | gnomAD v4 |
X | g.47574346G>A | CA516353951 | SYN1 | c.1638C>T (p.Ala546=) c.70+342C>T (n.70+342C>T) | gnomAD v4 |
X | g.47574346G>C | CA516353950 | SYN1 | c.1638C>G (p.Ala546=) c.70+342C>G (n.70+342C>G) | |
X | g.47574346G>T | CA516353949 | SYN1 | c.1638C>A (p.Ala546=) c.70+342C>A (n.70+342C>A) | |
X | g.47574347G>A | CA412823052 | SYN1 | c.1637C>T (p.Ala546Val) c.70+341C>T (n.70+341C>T) | gnomAD v4 |
X | g.47574347G>C | CA412823053 | SYN1 | c.1637C>G (p.Ala546Gly) c.70+341C>G (n.70+341C>G) | |
X | g.47574347G>T | CA412823054 | SYN1 | c.1637C>A (p.Ala546Asp) c.70+341C>A (n.70+341C>A) | gnomAD v4 |
X | g.47574348C>A | CA412823055 | SYN1 | c.1636G>T (p.Ala546Ser) c.70+340G>T (n.70+340G>T) | gnomAD v4 |
X | g.47574348C>G | CA412823056 | SYN1 | c.1636G>C (p.Ala546Pro) c.70+340G>C (n.70+340G>C) | |
X | g.47574348C>T | CA412823057 | SYN1 | c.1636G>A (p.Ala546Thr) c.70+340G>A (n.70+340G>A) | gnomAD v4 |
X | g.47574351_47574423del | CA2820775724 | SYN1 | c.1564_1636del (p.Ala522ProfsTer?) c.70+268_70+340del (n.70+268_70+340del) | |
X | g.47574349T>A | CA516353952 | SYN1 | c.1635A>T (p.Ala545=) c.70+339A>T (n.70+339A>T) | |
X | g.47574349T>C | CA516353953 | SYN1 | c.1635A>G (p.Ala545=) c.70+339A>G (n.70+339A>G) | gnomAD v3 gnomAD v4 |
X | g.47574349T>G | CA516353954 | SYN1 | c.1635A>C (p.Ala545=) c.70+339A>C (n.70+339A>C) | |
X | g.47574350del | CA2693585165 | SYN1 | c.1634del (p.Ala545GlufsTer?) c.70+338del (n.70+338del) | gnomAD v4 |
X | g.47574350G>A | CA412823058 | SYN1 | c.1634C>T (p.Ala545Val) c.70+338C>T (n.70+338C>T) | gnomAD v4 |
X | g.47574350G>C | CA412823059 | SYN1 | c.1634C>G (p.Ala545Gly) c.70+338C>G (n.70+338C>G) | |
X | g.47574350G= | CA2427971273 | SYN1 | c.1634C= (p.Ala545=) c.70+338C= (n.70+338C=) | |
X | g.47574350G>T | CA329057283 | SYN1 | c.1634C>A (p.Ala545Glu) c.70+338C>A (n.70+338C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574351C>A | CA412823060 | SYN1 | c.1633G>T (p.Ala545Ser) c.70+337G>T (n.70+337G>T) | gnomAD v4 |
X | g.47574351C>G | CA412823061 | SYN1 | c.1633G>C (p.Ala545Pro) c.70+337G>C (n.70+337G>C) | |
X | g.47574351C>T | CA412823062 | SYN1 | c.1633G>A (p.Ala545Thr) c.70+337G>A (n.70+337G>A) | gnomAD v4 |
X | g.47574352T>A | CA516353955 | SYN1 | c.1632A>T (p.Pro544=) c.70+336A>T (n.70+336A>T) | |
X | g.47574352T>C | CA516353957 | SYN1 | c.1632A>G (p.Pro544=) c.70+336A>G (n.70+336A>G) | gnomAD v4 |
X | g.47574352T>G | CA516353956 | SYN1 | c.1632A>C (p.Pro544=) c.70+336A>C (n.70+336A>C) | |
X | g.47574353G>A | CA412823063 | SYN1 | c.1631C>T (p.Pro544Leu) c.70+335C>T (n.70+335C>T) | gnomAD v4 |
X | g.47574353G>C | CA412823065 | SYN1 | c.1631C>G (p.Pro544Arg) c.70+335C>G (n.70+335C>G) | |
X | g.47574353G>T | CA412823066 | SYN1 | c.1631C>A (p.Pro544Gln) c.70+335C>A (n.70+335C>A) | gnomAD v4 |
X | g.47574354del | CA2693585166 | SYN1 | c.1631del (p.Pro544GlnfsTer?) c.70+335del (n.70+335del) | gnomAD v4 |
X | g.47574354G>A | CA412823070 | SYN1 | c.1630C>T (p.Pro544Ser) c.70+334C>T (n.70+334C>T) | |
X | g.47574354G>C | CA412823068 | SYN1 | c.1630C>G (p.Pro544Ala) c.70+334C>G (n.70+334C>G) | |
X | g.47574354G>T | CA412823067 | SYN1 | c.1630C>A (p.Pro544Thr) c.70+334C>A (n.70+334C>A) | |
X | g.47574355A= | CA2427971274 | SYN1 | c.1629T= (p.Pro543=) c.70+333T= (n.70+333T=) | |
X | g.47574355A>C | CA516353958 | SYN1 | c.1629T>G (p.Pro543=) c.70+333T>G (n.70+333T>G) | gnomAD v4 |
X | g.47574355A>G | CA329057288 | SYN1 | c.1629T>C (p.Pro543=) c.70+333T>C (n.70+333T>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574355A>T | CA516353959 | SYN1 | c.1629T>A (p.Pro543=) c.70+333T>A (n.70+333T>A) | |
X | g.47574356G>A | CA412823071 | SYN1 | c.1628C>T (p.Pro543Leu) c.70+332C>T (n.70+332C>T) | |
X | g.47574356G>C | CA412823072 | SYN1 | c.1628C>G (p.Pro543Arg) c.70+332C>G (n.70+332C>G) | |
X | g.47574356G>T | CA412823073 | SYN1 | c.1628C>A (p.Pro543His) c.70+332C>A (n.70+332C>A) | |
X | g.47574361_47574444del | CA2693585170 | SYN1 | c.1545_1628del (p.Gln516_Pro543del) c.70+249_70+332del (n.70+249_70+332del) | gnomAD v4 |
X | g.47574357G>A | CA329057293 | SYN1 | c.1627C>T (p.Pro543Ser) c.70+331C>T (n.70+331C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574357G>C | CA412823074 | SYN1 | c.1627C>G (p.Pro543Ala) c.70+331C>G (n.70+331C>G) | |
X | g.47574357G= | CA2427971275 | SYN1 | c.1627C= (p.Pro543=) c.70+331C= (n.70+331C=) | |
X | g.47574357G>T | CA412823075 | SYN1 | c.1627C>A (p.Pro543Thr) c.70+331C>A (n.70+331C>A) | gnomAD v4 |
X | g.47574359_47574360del | CA2579596679 | SYN1 | c.1626_1627del (p.Pro543SerfsTer?) c.70+330_70+331del (n.70+330_70+331del) | |
X | g.47574358C>A | CA516353960 | SYN1 | c.1626G>T (p.Ala542=) c.70+330G>T (n.70+330G>T) | dbSNP gnomAD v4 |
X | g.47574358C>G | CA516353962 | SYN1 | c.1626G>C (p.Ala542=) c.70+330G>C (n.70+330G>C) | |
X | g.47574358C>T | CA516353961 | SYN1 | c.1626G>A (p.Ala542=) c.70+330G>A (n.70+330G>A) | gnomAD v4 |
X | g.47574359G>A | CA412823076 | SYN1 | c.1625C>T (p.Ala542Val) c.70+329C>T (n.70+329C>T) | gnomAD v4 |
X | g.47574359G>C | CA412823079 | SYN1 | c.1625C>G (p.Ala542Gly) c.70+329C>G (n.70+329C>G) | |
X | g.47574359G>T | CA412823078 | SYN1 | c.1625C>A (p.Ala542Glu) c.70+329C>A (n.70+329C>A) | gnomAD v4 |
X | g.47574360C>A | CA412823081 | SYN1 | c.1624G>T (p.Ala542Ser) c.70+328G>T (n.70+328G>T) | dbSNP |
X | g.47574360C= | CA2427971276 | SYN1 | c.1624G= (p.Ala542=) c.70+328G= (n.70+328G=) | |
X | g.47574360C>G | CA412823082 | SYN1 | c.1624G>C (p.Ala542Pro) c.70+328G>C (n.70+328G>C) | |
X | g.47574360C>T | CA412823084 | SYN1 | c.1624G>A (p.Ala542Thr) c.70+328G>A (n.70+328G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574363del | CA2693585181 | SYN1 | c.1624del (p.Ala542ArgfsTer?) c.70+328del (n.70+328del) | gnomAD v4 |
X | g.47574361C>A | CA516353963 | SYN1 | c.1623G>T (p.Gly541=) c.70+327G>T (n.70+327G>T) | |
X | g.47574361C>G | CA516353964 | SYN1 | c.1623G>C (p.Gly541=) c.70+327G>C (n.70+327G>C) | |
X | g.47574361C>T | CA516353965 | SYN1 | c.1623G>A (p.Gly541=) c.70+327G>A (n.70+327G>A) | gnomAD v4 |
X | g.47574362C>A | CA412823085 | SYN1 | c.1622G>T (p.Gly541Val) c.70+326G>T (n.70+326G>T) | gnomAD v4 |
X | g.47574362C>G | CA412823087 | SYN1 | c.1622G>C (p.Gly541Ala) c.70+326G>C (n.70+326G>C) | |
X | g.47574362C>T | CA412823088 | SYN1 | c.1622G>A (p.Gly541Glu) c.70+326G>A (n.70+326G>A) | |
X | g.47574363C>A | CA412823090 | SYN1 | c.1621G>T (p.Gly541Trp) c.70+325G>T (n.70+325G>T) | gnomAD v4 |
X | g.47574363C= | CA2427971277 | SYN1 | c.1621G= (p.Gly541=) c.70+325G= (n.70+325G=) | |
X | g.47574363C>G | CA231535 | SYN1 | c.1621G>C (p.Gly541Arg) c.70+325G>C (n.70+325G>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574363C>T | CA412823092 | SYN1 | c.1621G>A (p.Gly541Arg) c.70+325G>A (n.70+325G>A) | gnomAD v4 |
X | g.47574364G>A | CA516353966 | SYN1 | c.1620C>T (p.Pro540=) c.70+324C>T (n.70+324C>T) | gnomAD v4 |
X | g.47574364G>C | CA516353967 | SYN1 | c.1620C>G (p.Pro540=) c.70+324C>G (n.70+324C>G) | gnomAD v4 |
X | g.47574364G>T | CA516353968 | SYN1 | c.1620C>A (p.Pro540=) c.70+324C>A (n.70+324C>A) | gnomAD v4 |
X | g.47574367del | CA2693585195 | SYN1 | c.1620del (p.Ala542ArgfsTer?) c.70+324del (n.70+324del) | dbSNP gnomAD v4 |
X | g.47574365G>A | CA412823094 | SYN1 | c.1619C>T (p.Pro540Leu) c.70+323C>T (n.70+323C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574365G>C | CA412823096 | SYN1 | c.1619C>G (p.Pro540Arg) c.70+323C>G (n.70+323C>G) | |
X | g.47574365G= | CA2427971278 | SYN1 | c.1619C= (p.Pro540=) c.70+323C= (n.70+323C=) | |
X | g.47574365G>T | CA412823098 | SYN1 | c.1619C>A (p.Pro540His) c.70+323C>A (n.70+323C>A) | gnomAD v4 |
X | g.47574366G>A | CA412823100 | SYN1 | c.1618C>T (p.Pro540Ser) c.70+322C>T (n.70+322C>T) | gnomAD v4 |
X | g.47574366G>C | CA412823103 | SYN1 | c.1618C>G (p.Pro540Ala) c.70+322C>G (n.70+322C>G) | |
X | g.47574366G= | CA2427971279 | SYN1 | c.1618C= (p.Pro540=) c.70+322C= (n.70+322C=) | |
X | g.47574366G>T | CA412823102 | SYN1 | c.1618C>A (p.Pro540Thr) c.70+322C>A (n.70+322C>A) | dbSNP gnomAD v4 |
X | g.47574367G>A | CA516353971 | SYN1 | c.1617C>T (p.Gly539=) c.70+321C>T (n.70+321C>T) | gnomAD v4 |
X | g.47574367G>C | CA516353969 | SYN1 | c.1617C>G (p.Gly539=) c.70+321C>G (n.70+321C>G) | gnomAD v4 |
X | g.47574367G= | CA2427971280 | SYN1 | c.1617C= (p.Gly539=) c.70+321C= (n.70+321C=) | |
X | g.47574367G>T | CA516353970 | SYN1 | c.1617C>A (p.Gly539=) c.70+321C>A (n.70+321C>A) | |
X | g.47574367_47574368dup | CA2579596680 | SYN1 | c.1616_1617dup (p.Pro540AlafsTer?) c.70+320_70+321dup (n.70+320_70+321dup) | |
X | g.47574368C>A | CA412823105 | SYN1 | c.1616G>T (p.Gly539Val) c.70+320G>T (n.70+320G>T) | dbSNP gnomAD v4 |
X | g.47574368C= | CA2427971281 | SYN1 | c.1616G= (p.Gly539=) c.70+320G= (n.70+320G=) | |
X | g.47574368C>G | CA412823106 | SYN1 | c.1616G>C (p.Gly539Ala) c.70+320G>C (n.70+320G>C) | gnomAD v4 |
X | g.47574368C>T | CA412823108 | SYN1 | c.1616G>A (p.Gly539Asp) c.70+320G>A (n.70+320G>A) | |
X | g.47574369dup | CA645603182 | SYN1 | c.1616dup (p.Gly541ArgfsTer?) c.70+320dup (n.70+320dup) | dbSNP COSMIC COSMIC |
X | g.47574369C>A | CA412823110 | SYN1 | c.1615G>T (p.Gly539Cys) c.70+319G>T (n.70+319G>T) | gnomAD v4 |
X | g.47574369C= | CA2427971282 | SYN1 | c.1615G= (p.Gly539=) c.70+319G= (n.70+319G=) | |
X | g.47574369C>G | CA412823112 | SYN1 | c.1615G>C (p.Gly539Arg) c.70+319G>C (n.70+319G>C) | |
X | g.47574369C>T | CA239960 | SYN1 | c.1615G>A (p.Gly539Ser) c.70+319G>A (n.70+319G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574370T>A | CA516353972 | SYN1 | c.1614A>T (p.Gly538=) c.70+318A>T (n.70+318A>T) | ClinVar gnomAD v4 |
X | g.47574370T>C | CA239957 | SYN1 | c.1614A>G (p.Gly538=) c.70+318A>G (n.70+318A>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574370T>G | CA516353973 | SYN1 | c.1614A>C (p.Gly538=) c.70+318A>C (n.70+318A>C) | |
X | g.47574370T= | CA2427971283 | SYN1 | c.1614A= (p.Gly538=) c.70+318A= (n.70+318A=) | |
X | g.47574371C>A | CA412823113 | SYN1 | c.1613G>T (p.Gly538Val) c.70+317G>T (n.70+317G>T) | gnomAD v4 |
X | g.47574371C>G | CA412823114 | SYN1 | c.1613G>C (p.Gly538Ala) c.70+317G>C (n.70+317G>C) | |
X | g.47574371C>T | CA412823115 | SYN1 | c.1613G>A (p.Gly538Glu) c.70+317G>A (n.70+317G>A) | gnomAD v4 |
X | g.47574372C>A | CA412823116 | SYN1 | c.1612G>T (p.Gly538Ter) c.70+316G>T (n.70+316G>T) | |
X | g.47574372C>G | CA412823117 | SYN1 | c.1612G>C (p.Gly538Arg) c.70+316G>C (n.70+316G>C) | |
X | g.47574372C>T | CA412823118 | SYN1 | c.1612G>A (p.Gly538Arg) c.70+316G>A (n.70+316G>A) | gnomAD v4 |
X | g.47574373C>A | CA516353974 | SYN1 | c.1611G>T (p.Ala537=) c.70+315G>T (n.70+315G>T) | gnomAD v4 |
X | g.47574373C>G | CA516353975 | SYN1 | c.1611G>C (p.Ala537=) c.70+315G>C (n.70+315G>C) | |
X | g.47574373C>T | CA516353976 | SYN1 | c.1611G>A (p.Ala537=) c.70+315G>A (n.70+315G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574374G>A | CA412823119 | SYN1 | c.1610C>T (p.Ala537Val) c.70+314C>T (n.70+314C>T) | gnomAD v4 |
X | g.47574374G>C | CA412823121 | SYN1 | c.1610C>G (p.Ala537Gly) c.70+314C>G (n.70+314C>G) | |
X | g.47574374G>T | CA412823120 | SYN1 | c.1610C>A (p.Ala537Glu) c.70+314C>A (n.70+314C>A) | |
X | g.47574375C>A | CA412823122 | SYN1 | c.1609G>T (p.Ala537Ser) c.70+313G>T (n.70+313G>T) | gnomAD v4 |
X | g.47574375C= | CA2427971284 | SYN1 | c.1609G= (p.Ala537=) c.70+313G= (n.70+313G=) | |
X | g.47574375C>G | CA412823123 | SYN1 | c.1609G>C (p.Ala537Pro) c.70+313G>C (n.70+313G>C) | |
X | g.47574375C>T | CA412823124 | SYN1 | c.1609G>A (p.Ala537Thr) c.70+313G>A (n.70+313G>A) | ClinVar dbSNP |
X | g.47574376C>A | CA516353977 | SYN1 | c.1608G>T (p.Val536=) c.70+312G>T (n.70+312G>T) | gnomAD v4 |
X | g.47574376C>G | CA516353978 | SYN1 | c.1608G>C (p.Val536=) c.70+312G>C (n.70+312G>C) | |
X | g.47574376C>T | CA516353979 | SYN1 | c.1608G>A (p.Val536=) c.70+312G>A (n.70+312G>A) | |
X | g.47574377A>C | CA412823125 | SYN1 | c.1607T>G (p.Val536Gly) c.70+311T>G (n.70+311T>G) | |
X | g.47574377A>G | CA412823126 | SYN1 | c.1607T>C (p.Val536Ala) c.70+311T>C (n.70+311T>C) | |
X | g.47574377A>T | CA412823127 | SYN1 | c.1607T>A (p.Val536Glu) c.70+311T>A (n.70+311T>A) | |
X | g.47574378C>A | CA412823128 | SYN1 | c.1606G>T (p.Val536Leu) c.70+310G>T (n.70+310G>T) | |
X | g.47574378C>G | CA412823129 | SYN1 | c.1606G>C (p.Val536Leu) c.70+310G>C (n.70+310G>C) | |
X | g.47574378C>T | CA412823130 | SYN1 | c.1606G>A (p.Val536Met) c.70+310G>A (n.70+310G>A) | |
X | g.47574379T>A | CA516353980 | SYN1 | c.1605A>T (p.Pro535=) c.70+309A>T (n.70+309A>T) | |
X | g.47574379T>C | CA329057320 | SYN1 | c.1605A>G (p.Pro535=) c.70+309A>G (n.70+309A>G) | dbSNP |
X | g.47574379T>G | CA516353981 | SYN1 | c.1605A>C (p.Pro535=) c.70+309A>C (n.70+309A>C) | |
X | g.47574379T= | CA2427971285 | SYN1 | c.1605A= (p.Pro535=) c.70+309A= (n.70+309A=) | |
X | g.47574380G>A | CA412823131 | SYN1 | c.1604C>T (p.Pro535Leu) c.70+308C>T (n.70+308C>T) | gnomAD v4 |
X | g.47574380G>C | CA412823133 | SYN1 | c.1604C>G (p.Pro535Arg) c.70+308C>G (n.70+308C>G) | |
X | g.47574380G>T | CA412823132 | SYN1 | c.1604C>A (p.Pro535Gln) c.70+308C>A (n.70+308C>A) | gnomAD v4 |
X | g.47574381G>A | CA412823134 | SYN1 | c.1603C>T (p.Pro535Ser) c.70+307C>T (n.70+307C>T) | gnomAD v4 |
X | g.47574381G>C | CA412823136 | SYN1 | c.1603C>G (p.Pro535Ala) c.70+307C>G (n.70+307C>G) | |
X | g.47574381G>T | CA412823135 | SYN1 | c.1603C>A (p.Pro535Thr) c.70+307C>A (n.70+307C>A) | |
X | g.47574382C>A | CA516353982 | SYN1 | c.1602G>T (p.Arg534=) c.70+306G>T (n.70+306G>T) | dbSNP gnomAD v4 |
X | g.47574382C>G | CA516353983 | SYN1 | c.1602G>C (p.Arg534=) c.70+306G>C (n.70+306G>C) | |
X | g.47574382C>T | CA516353984 | SYN1 | c.1602G>A (p.Arg534=) c.70+306G>A (n.70+306G>A) | |
X | g.47574383C>A | CA412823137 | SYN1 | c.1601G>T (p.Arg534Leu) c.70+305G>T (n.70+305G>T) | |
X | g.47574383C>G | CA412823139 | SYN1 | c.1601G>C (p.Arg534Pro) c.70+305G>C (n.70+305G>C) | |
X | g.47574383C>T | CA412823138 | SYN1 | c.1601G>A (p.Arg534Gln) c.70+305G>A (n.70+305G>A) | gnomAD v4 |
X | g.47574384G>A | CA412823141 | SYN1 | c.1600C>T (p.Arg534Trp) c.70+304C>T (n.70+304C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574384G>C | CA412823142 | SYN1 | c.1600C>G (p.Arg534Gly) c.70+304C>G (n.70+304C>G) | gnomAD v4 |
X | g.47574384G= | CA2427971286 | SYN1 | c.1600C= (p.Arg534=) c.70+304C= (n.70+304C=) | |
X | g.47574384G>T | CA516353985 | SYN1 | c.1600C>A (p.Arg534=) c.70+304C>A (n.70+304C>A) | gnomAD v4 |
X | g.47574385G>A | CA516353986 | SYN1 | c.1599C>T (p.Ser533=) c.70+303C>T (n.70+303C>T) | gnomAD v4 |
X | g.47574385G>C | CA516353987 | SYN1 | c.1599C>G (p.Ser533=) c.70+303C>G (n.70+303C>G) | |
X | g.47574385G>T | CA516353988 | SYN1 | c.1599C>A (p.Ser533=) c.70+303C>A (n.70+303C>A) | gnomAD v4 |
X | g.47574386G>A | CA412823145 | SYN1 | c.1598C>T (p.Ser533Phe) c.70+302C>T (n.70+302C>T) | |
X | g.47574386G>C | CA412823147 | SYN1 | c.1598C>G (p.Ser533Cys) c.70+302C>G (n.70+302C>G) | |
X | g.47574386G= | CA2427971287 | SYN1 | c.1598C= (p.Ser533=) c.70+302C= (n.70+302C=) | |
X | g.47574386G>T | CA412823148 | SYN1 | c.1598C>A (p.Ser533Tyr) c.70+302C>A (n.70+302C>A) | dbSNP |
X | g.47574387A>C | CA412823150 | SYN1 | c.1597T>G (p.Ser533Ala) c.70+301T>G (n.70+301T>G) | |
X | g.47574387A>G | CA412823152 | SYN1 | c.1597T>C (p.Ser533Pro) c.70+301T>C (n.70+301T>C) | |
X | g.47574387A>T | CA412823153 | SYN1 | c.1597T>A (p.Ser533Thr) c.70+301T>A (n.70+301T>A) | gnomAD v4 |
X | g.47574388T>A | CA412823154 | SYN1 | c.1596A>T (p.Gln532His) c.70+300A>T (n.70+300A>T) | |
X | g.47574388T>C | CA516353989 | SYN1 | c.1596A>G (p.Gln532=) c.70+300A>G (n.70+300A>G) | gnomAD v4 |
X | g.47574388T>G | CA412823156 | SYN1 | c.1596A>C (p.Gln532His) c.70+300A>C (n.70+300A>C) | |
X | g.47574389T>A | CA412823158 | SYN1 | c.1595A>T (p.Gln532Leu) c.70+299A>T (n.70+299A>T) | |
X | g.47574389T>C | CA412823160 | SYN1 | c.1595A>G (p.Gln532Arg) c.70+299A>G (n.70+299A>G) | |
X | g.47574389T>G | CA412823161 | SYN1 | c.1595A>C (p.Gln532Pro) c.70+299A>C (n.70+299A>C) | |
X | g.47574390G>A | CA412823162 | SYN1 | c.1594C>T (p.Gln532Ter) c.70+298C>T (n.70+298C>T) | ClinVar |
X | g.47574390G>C | CA412823166 | SYN1 | c.1594C>G (p.Gln532Glu) c.70+298C>G (n.70+298C>G) | |
X | g.47574390G>T | CA412823164 | SYN1 | c.1594C>A (p.Gln532Lys) c.70+298C>A (n.70+298C>A) | gnomAD v4 |
X | g.47574391G>A | CA516353990 | SYN1 | c.1593C>T (p.Arg531=) c.70+297C>T (n.70+297C>T) | gnomAD v4 |
X | g.47574391G>C | CA516353991 | SYN1 | c.1593C>G (p.Arg531=) c.70+297C>G (n.70+297C>G) | |
X | g.47574391G>T | CA516353992 | SYN1 | c.1593C>A (p.Arg531=) c.70+297C>A (n.70+297C>A) | gnomAD v4 |
X | g.47574392C>A | CA412823168 | SYN1 | c.1592G>T (p.Arg531Leu) c.70+296G>T (n.70+296G>T) | gnomAD v4 |
X | g.47574392C>G | CA412823169 | SYN1 | c.1592G>C (p.Arg531Pro) c.70+296G>C (n.70+296G>C) | |
X | g.47574392C>T | CA412823170 | SYN1 | c.1592G>A (p.Arg531His) c.70+296G>A (n.70+296G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574393G>A | CA412823172 | SYN1 | c.1591C>T (p.Arg531Cys) c.70+295C>T (n.70+295C>T) | |
X | g.47574393G>C | CA412823174 | SYN1 | c.1591C>G (p.Arg531Gly) c.70+295C>G (n.70+295C>G) | |
X | g.47574393G>T | CA412823176 | SYN1 | c.1591C>A (p.Arg531Ser) c.70+295C>A (n.70+295C>A) | gnomAD v4 |