Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317918G>ACA358118050FAT4c.1507G>A (p.Asp503Asn)
c.-55+1941G>A (n.-55+1941G>A)
4g.125317918G>CCA358118051FAT4c.1507G>C (p.Asp503His)
c.-55+1941G>C (n.-55+1941G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125317918G=CA1491601026FAT4c.1507G= (p.Asp503=)
c.-55+1941G= (n.-55+1941G=)
4g.125317918G>TCA358118052FAT4c.1507G>T (p.Asp503Tyr)
c.-55+1941G>T (n.-55+1941G>T)
 gnomAD v4
4g.125317919A>CCA358118053FAT4c.1508A>C (p.Asp503Ala)
c.-55+1942A>C (n.-55+1942A>C)
4g.125317919A>GCA358118054FAT4c.1508A>G (p.Asp503Gly)
c.-55+1942A>G (n.-55+1942A>G)
4g.125317919A>TCA358118055FAT4c.1508A>T (p.Asp503Val)
c.-55+1942A>T (n.-55+1942A>T)
4g.125317920C>ACA358118056FAT4c.1509C>A (p.Asp503Glu)
c.-55+1943C>A (n.-55+1943C>A)
4g.125317920C>GCA358118057FAT4c.1509C>G (p.Asp503Glu)
c.-55+1943C>G (n.-55+1943C>G)
4g.125317920C>TCA441366907FAT4c.1509C>T (p.Asp503=)
c.-55+1943C>T (n.-55+1943C>T)
4g.125317921T>ACA358118058FAT4c.1510T>A (p.Ser504Thr)
c.-55+1944T>A (n.-55+1944T>A)
4g.125317921T>CCA358118059FAT4c.1510T>C (p.Ser504Pro)
c.-55+1944T>C (n.-55+1944T>C)
4g.125317921T>GCA358118060FAT4c.1510T>G (p.Ser504Ala)
c.-55+1944T>G (n.-55+1944T>G)
4g.125317922C>ACA358118061FAT4c.1511C>A (p.Ser504Tyr)
c.-55+1945C>A (n.-55+1945C>A)
4g.125317922C=CA1491601029FAT4c.1511C= (p.Ser504=)
c.-55+1945C= (n.-55+1945C=)
4g.125317922C>GCA358118062FAT4c.1511C>G (p.Ser504Cys)
c.-55+1945C>G (n.-55+1945C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317922C>TCA358118063FAT4c.1511C>T (p.Ser504Phe)
c.-55+1945C>T (n.-55+1945C>T)
4g.125317923T>ACA441366915FAT4c.1512T>A (p.Ser504=)
c.-55+1946T>A (n.-55+1946T>A)
4g.125317923T>CCA441366913FAT4c.1512T>C (p.Ser504=)
c.-55+1946T>C (n.-55+1946T>C)
4g.125317923T>GCA441366911FAT4c.1512T>G (p.Ser504=)
c.-55+1946T>G (n.-55+1946T>G)
4g.125317924G>ACA358118064FAT4c.1513G>A (p.Gly505Ser)
c.-55+1947G>A (n.-55+1947G>A)
4g.125317924G>CCA358118065FAT4c.1513G>C (p.Gly505Arg)
c.-55+1947G>C (n.-55+1947G>C)
4g.125317924G>TCA358118066FAT4c.1513G>T (p.Gly505Cys)
c.-55+1947G>T (n.-55+1947G>T)
4g.125317925G>ACA358118067FAT4c.1514G>A (p.Gly505Asp)
c.-55+1948G>A (n.-55+1948G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317925G>CCA358118068FAT4c.1514G>C (p.Gly505Ala)
c.-55+1948G>C (n.-55+1948G>C)
4g.125317925G=CA1491601034FAT4c.1514G= (p.Gly505=)
c.-55+1948G= (n.-55+1948G=)
4g.125317925G>TCA358118069FAT4c.1514G>T (p.Gly505Val)
c.-55+1948G>T (n.-55+1948G>T)
4g.125317926T>ACA441366919FAT4c.1515T>A (p.Gly505=)
c.-55+1949T>A (n.-55+1949T>A)
4g.125317926T>CCA441366921FAT4c.1515T>C (p.Gly505=)
c.-55+1949T>C (n.-55+1949T>C)
4g.125317926T>GCA441366923FAT4c.1515T>G (p.Gly505=)
c.-55+1949T>G (n.-55+1949T>G)
4g.125317927C>ACA358118072FAT4c.1516C>A (p.Leu506Ile)
c.-55+1950C>A (n.-55+1950C>A)
4g.125317927C>GCA358118070FAT4c.1516C>G (p.Leu506Val)
c.-55+1950C>G (n.-55+1950C>G)
 ClinVar gnomAD v4
4g.125317927C>TCA358118071FAT4c.1516C>T (p.Leu506Phe)
c.-55+1950C>T (n.-55+1950C>T)
 gnomAD v4
4g.125317928T>ACA358118073FAT4c.1517T>A (p.Leu506His)
c.-55+1951T>A (n.-55+1951T>A)
4g.125317928T>CCA358118075FAT4c.1517T>C (p.Leu506Pro)
c.-55+1951T>C (n.-55+1951T>C)
4g.125317928T>GCA358118074FAT4c.1517T>G (p.Leu506Arg)
c.-55+1951T>G (n.-55+1951T>G)
4g.125317929C>ACA441366933FAT4c.1518C>A (p.Leu506=)
c.-55+1952C>A (n.-55+1952C>A)
4g.125317929C>GCA441366936FAT4c.1518C>G (p.Leu506=)
c.-55+1952C>G (n.-55+1952C>G)
4g.125317929C>TCA441366939FAT4c.1518C>T (p.Leu506=)
c.-55+1952C>T (n.-55+1952C>T)
4g.125317930A=CA1491601038FAT4c.1519A= (p.Asn507=)
c.-55+1953A= (n.-55+1953A=)
4g.125317930A>CCA358118076FAT4c.1519A>C (p.Asn507His)
c.-55+1953A>C (n.-55+1953A>C)
4g.125317930A>GCA358118077FAT4c.1519A>G (p.Asn507Asp)
c.-55+1953A>G (n.-55+1953A>G)
 dbSNP
4g.125317930A>TCA358118078FAT4c.1519A>T (p.Asn507Tyr)
c.-55+1953A>T (n.-55+1953A>T)
4g.125317931A=CA1491601044FAT4c.1520A= (p.Asn507=)
c.-55+1954A= (n.-55+1954A=)
4g.125317931A>CCA358118079FAT4c.1520A>C (p.Asn507Thr)
c.-55+1954A>C (n.-55+1954A>C)
4g.125317931A>GCA358118080FAT4c.1520A>G (p.Asn507Ser)
c.-55+1954A>G (n.-55+1954A>G)
 dbSNP gnomAD v4
4g.125317931A>TCA358118081FAT4c.1520A>T (p.Asn507Ile)
c.-55+1954A>T (n.-55+1954A>T)
4g.125317932T>ACA358118082FAT4c.1521T>A (p.Asn507Lys)
c.-55+1955T>A (n.-55+1955T>A)
4g.125317932T>CCA441366953FAT4c.1521T>C (p.Asn507=)
c.-55+1955T>C (n.-55+1955T>C)
 dbSNP gnomAD v4
4g.125317932T>GCA358118083FAT4c.1521T>G (p.Asn507Lys)
c.-55+1955T>G (n.-55+1955T>G)
4g.125317932T=CA1491601047FAT4c.1521T= (p.Asn507=)
c.-55+1955T= (n.-55+1955T=)
4g.125317933G>ACA358118084FAT4c.1522G>A (p.Ala508Thr)
c.-55+1956G>A (n.-55+1956G>A)
 gnomAD v4
4g.125317933G>CCA358118086FAT4c.1522G>C (p.Ala508Pro)
c.-55+1956G>C (n.-55+1956G>C)
4g.125317933G>TCA358118085FAT4c.1522G>T (p.Ala508Ser)
c.-55+1956G>T (n.-55+1956G>T)
4g.125317934C>ACA358118087FAT4c.1523C>A (p.Ala508Asp)
c.-55+1957C>A (n.-55+1957C>A)
4g.125317934C>GCA358118088FAT4c.1523C>G (p.Ala508Gly)
c.-55+1957C>G (n.-55+1957C>G)
 gnomAD v4
4g.125317934C>TCA358118089FAT4c.1523C>T (p.Ala508Val)
c.-55+1957C>T (n.-55+1957C>T)
4g.125317935T>ACA441366964FAT4c.1524T>A (p.Ala508=)
c.-55+1958T>A (n.-55+1958T>A)
4g.125317935T>CCA441366966FAT4c.1524T>C (p.Ala508=)
c.-55+1958T>C (n.-55+1958T>C)
4g.125317935T>GCA3072004FAT4c.1524T>G (p.Ala508=)
c.-55+1958T>G (n.-55+1958T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317935T=CA1491601056FAT4c.1524T= (p.Ala508=)
c.-55+1958T= (n.-55+1958T=)
4g.125317936A=CA1491601060FAT4c.1525A= (p.Asn509=)
c.-55+1959A= (n.-55+1959A=)
4g.125317936A>CCA358118090FAT4c.1525A>C (p.Asn509His)
c.-55+1959A>C (n.-55+1959A>C)
 ClinVar dbSNP gnomAD v4
4g.125317936A>GCA358118092FAT4c.1525A>G (p.Asn509Asp)
c.-55+1959A>G (n.-55+1959A>G)
4g.125317936A>TCA358118091FAT4c.1525A>T (p.Asn509Tyr)
c.-55+1959A>T (n.-55+1959A>T)
4g.125317937A=CA1491601065FAT4c.1526A= (p.Asn509=)
c.-55+1960A= (n.-55+1960A=)
4g.125317937A>CCA358118093FAT4c.1526A>C (p.Asn509Thr)
c.-55+1960A>C (n.-55+1960A>C)
4g.125317937A>GCA104864135FAT4c.1526A>G (p.Asn509Ser)
c.-55+1960A>G (n.-55+1960A>G)
 dbSNP gnomAD v4
4g.125317937A>TCA358118094FAT4c.1526A>T (p.Asn509Ile)
c.-55+1960A>T (n.-55+1960A>T)
4g.125317938T>ACA358118095FAT4c.1527T>A (p.Asn509Lys)
c.-55+1961T>A (n.-55+1961T>A)
 gnomAD v4
4g.125317938T>CCA441366982FAT4c.1527T>C (p.Asn509=)
c.-55+1961T>C (n.-55+1961T>C)
4g.125317938T>GCA358118096FAT4c.1527T>G (p.Asn509Lys)
c.-55+1961T>G (n.-55+1961T>G)
4g.125317939C>ACA358118097FAT4c.1528C>A (p.Leu510Met)
c.-55+1962C>A (n.-55+1962C>A)
4g.125317939C>GCA358118098FAT4c.1528C>G (p.Leu510Val)
c.-55+1962C>G (n.-55+1962C>G)
 COSMIC COSMIC
4g.125317939C>TCA441366983FAT4c.1528C>T (p.Leu510=)
c.-55+1962C>T (n.-55+1962C>T)
 gnomAD v4
4g.125317940T>ACA358118099FAT4c.1529T>A (p.Leu510Gln)
c.-55+1963T>A (n.-55+1963T>A)
4g.125317940T>CCA358118100FAT4c.1529T>C (p.Leu510Pro)
c.-55+1963T>C (n.-55+1963T>C)
4g.125317940T>GCA358118101FAT4c.1529T>G (p.Leu510Arg)
c.-55+1963T>G (n.-55+1963T>G)
4g.125317941G>ACA3072005FAT4c.1530G>A (p.Leu510=)
c.-55+1964G>A (n.-55+1964G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317941G>CCA441366990FAT4c.1530G>C (p.Leu510=)
c.-55+1964G>C (n.-55+1964G>C)
4g.125317941G=CA1491601072FAT4c.1530G= (p.Leu510=)
c.-55+1964G= (n.-55+1964G=)
4g.125317941G>TCA441366992FAT4c.1530G>T (p.Leu510=)
c.-55+1964G>T (n.-55+1964G>T)
4g.125317942C>ACA358118102FAT4c.1531C>A (p.Arg511Ser)
c.-55+1965C>A (n.-55+1965C>A)
4g.125317942C>GCA358118104FAT4c.1531C>G (p.Arg511Gly)
c.-55+1965C>G (n.-55+1965C>G)
4g.125317942C>TCA358118103FAT4c.1531C>T (p.Arg511Cys)
c.-55+1965C>T (n.-55+1965C>T)
 gnomAD v4 COSMIC COSMIC
4g.125317943G>ACA3072006FAT4c.1532G>A (p.Arg511His)
c.-55+1966G>A (n.-55+1966G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317943G>CCA358118105FAT4c.1532G>C (p.Arg511Pro)
c.-55+1966G>C (n.-55+1966G>C)
4g.125317943G=CA1491601076FAT4c.1532G= (p.Arg511=)
c.-55+1966G= (n.-55+1966G=)
4g.125317943G>TCA358118106FAT4c.1532G>T (p.Arg511Leu)
c.-55+1966G>T (n.-55+1966G>T)
4g.125317944T>ACA441367002FAT4c.1533T>A (p.Arg511=)
c.-55+1967T>A (n.-55+1967T>A)
4g.125317944T>CCA441367001FAT4c.1533T>C (p.Arg511=)
c.-55+1967T>C (n.-55+1967T>C)
4g.125317944T>GCA441367000FAT4c.1533T>G (p.Arg511=)
c.-55+1967T>G (n.-55+1967T>G)
4g.125317945T>ACA358118107FAT4c.1534T>A (p.Tyr512Asn)
c.-55+1968T>A (n.-55+1968T>A)
4g.125317945T>CCA358118108FAT4c.1534T>C (p.Tyr512His)
c.-55+1968T>C (n.-55+1968T>C)
4g.125317945T>GCA358118109FAT4c.1534T>G (p.Tyr512Asp)
c.-55+1968T>G (n.-55+1968T>G)
4g.125317946A>CCA358118110FAT4c.1535A>C (p.Tyr512Ser)
c.-55+1969A>C (n.-55+1969A>C)
4g.125317946A>GCA358118111FAT4c.1535A>G (p.Tyr512Cys)
c.-55+1969A>G (n.-55+1969A>G)
4g.125317946A>TCA358118112FAT4c.1535A>T (p.Tyr512Phe)
c.-55+1969A>T (n.-55+1969A>T)
4g.125317947C>ACA358118113FAT4c.1536C>A (p.Tyr512Ter)
c.-55+1970C>A (n.-55+1970C>A)
4g.125317947C=CA1491601082FAT4c.1536C= (p.Tyr512=)
c.-55+1970C= (n.-55+1970C=)
4g.125317947C>GCA358118114FAT4c.1536C>G (p.Tyr512Ter)
c.-55+1970C>G (n.-55+1970C>G)
4g.125317947C>TCA104864153FAT4c.1536C>T (p.Tyr512=)
c.-55+1970C>T (n.-55+1970C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317948A=CA1491601086FAT4c.1537A= (p.Ser513=)
c.-55+1971A= (n.-55+1971A=)
4g.125317948A>CCA358118116FAT4c.1537A>C (p.Ser513Arg)
c.-55+1971A>C (n.-55+1971A>C)
4g.125317948A>GCA3072007FAT4c.1537A>G (p.Ser513Gly)
c.-55+1971A>G (n.-55+1971A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317948A>TCA358118115FAT4c.1537A>T (p.Ser513Cys)
c.-55+1971A>T (n.-55+1971A>T)
4g.125317949G>ACA358118117FAT4c.1538G>A (p.Ser513Asn)
c.-55+1972G>A (n.-55+1972G>A)
 dbSNP gnomAD v4
4g.125317949G>CCA358118118FAT4c.1538G>C (p.Ser513Thr)
c.-55+1972G>C (n.-55+1972G>C)
4g.125317949G=CA1491601097FAT4c.1538G= (p.Ser513=)
c.-55+1972G= (n.-55+1972G=)
4g.125317949G>TCA358118119FAT4c.1538G>T (p.Ser513Ile)
c.-55+1972G>T (n.-55+1972G>T)
4g.125317950C>ACA358118120FAT4c.1539C>A (p.Ser513Arg)
c.-55+1973C>A (n.-55+1973C>A)
4g.125317950C=CA1491601102FAT4c.1539C= (p.Ser513=)
c.-55+1973C= (n.-55+1973C=)
4g.125317950C>GCA104864162FAT4c.1539C>G (p.Ser513Arg)
c.-55+1973C>G (n.-55+1973C>G)
 dbSNP gnomAD v2
4g.125317950C>TCA441367020FAT4c.1539C>T (p.Ser513=)
c.-55+1973C>T (n.-55+1973C>T)
 gnomAD v4
4g.125317951A=CA1491601103FAT4c.1540A= (p.Ile514=)
c.-55+1974A= (n.-55+1974A=)
4g.125317951A>CCA358118121FAT4c.1540A>C (p.Ile514Leu)
c.-55+1974A>C (n.-55+1974A>C)
4g.125317951A>GCA358118122FAT4c.1540A>G (p.Ile514Val)
c.-55+1974A>G (n.-55+1974A>G)
 dbSNP
4g.125317951A>TCA358118123FAT4c.1540A>T (p.Ile514Phe)
c.-55+1974A>T (n.-55+1974A>T)
 gnomAD v4
4g.125317952T>ACA358118124FAT4c.1541T>A (p.Ile514Asn)
c.-55+1975T>A (n.-55+1975T>A)
4g.125317952T>CCA358118125FAT4c.1541T>C (p.Ile514Thr)
c.-55+1975T>C (n.-55+1975T>C)
 ClinVar dbSNP gnomAD v4
4g.125317952T>GCA358118126FAT4c.1541T>G (p.Ile514Ser)
c.-55+1975T>G (n.-55+1975T>G)
4g.125317952T=CA1491601106FAT4c.1541T= (p.Ile514=)
c.-55+1975T= (n.-55+1975T=)
4g.125317953T>ACA441367026FAT4c.1542T>A (p.Ile514=)
c.-55+1976T>A (n.-55+1976T>A)
4g.125317953T>CCA441367028FAT4c.1542T>C (p.Ile514=)
c.-55+1976T>C (n.-55+1976T>C)
 COSMIC COSMIC
4g.125317953T>GCA358118127FAT4c.1542T>G (p.Ile514Met)
c.-55+1976T>G (n.-55+1976T>G)
4g.125317954G>ACA358118130FAT4c.1543G>A (p.Val515Ile)
c.-55+1977G>A (n.-55+1977G>A)
4g.125317954G>CCA358118129FAT4c.1543G>C (p.Val515Leu)
c.-55+1977G>C (n.-55+1977G>C)
4g.125317954G>TCA358118128FAT4c.1543G>T (p.Val515Phe)
c.-55+1977G>T (n.-55+1977G>T)
4g.125317955T>ACA358118133FAT4c.1544T>A (p.Val515Asp)
c.-55+1978T>A (n.-55+1978T>A)
4g.125317955T>CCA358118131FAT4c.1544T>C (p.Val515Ala)
c.-55+1978T>C (n.-55+1978T>C)
4g.125317955T>GCA358118132FAT4c.1544T>G (p.Val515Gly)
c.-55+1978T>G (n.-55+1978T>G)
4g.125317956C>ACA441367036FAT4c.1545C>A (p.Val515=)
c.-55+1979C>A (n.-55+1979C>A)
4g.125317956C=CA1491601110FAT4c.1545C= (p.Val515=)
c.-55+1979C= (n.-55+1979C=)
4g.125317956C>GCA441367037FAT4c.1545C>G (p.Val515=)
c.-55+1979C>G (n.-55+1979C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317956C>TCA441367038FAT4c.1545C>T (p.Val515=)
c.-55+1979C>T (n.-55+1979C>T)
 ClinVar dbSNP gnomAD v4
4g.125317957T>ACA358118134FAT4c.1546T>A (p.Ser516Thr)
c.-55+1980T>A (n.-55+1980T>A)
4g.125317957T>CCA358118135FAT4c.1546T>C (p.Ser516Pro)
c.-55+1980T>C (n.-55+1980T>C)
4g.125317957T>GCA358118136FAT4c.1546T>G (p.Ser516Ala)
c.-55+1980T>G (n.-55+1980T>G)
 gnomAD v4
4g.125317958C>ACA358118139FAT4c.1547C>A (p.Ser516Tyr)
c.-55+1981C>A (n.-55+1981C>A)
4g.125317958C>GCA358118138FAT4c.1547C>G (p.Ser516Cys)
c.-55+1981C>G (n.-55+1981C>G)
4g.125317958C>TCA358118137FAT4c.1547C>T (p.Ser516Phe)
c.-55+1981C>T (n.-55+1981C>T)
 gnomAD v4
4g.125317959T>ACA441367047FAT4c.1548T>A (p.Ser516=)
c.-55+1982T>A (n.-55+1982T>A)
4g.125317959T>CCA441367048FAT4c.1548T>C (p.Ser516=)
c.-55+1982T>C (n.-55+1982T>C)
 ClinVar dbSNP COSMIC COSMIC
4g.125317959T>GCA441367049FAT4c.1548T>G (p.Ser516=)
c.-55+1982T>G (n.-55+1982T>G)
4g.125317960G>ACA358118140FAT4c.1549G>A (p.Gly517Ser)
c.-55+1983G>A (n.-55+1983G>A)
4g.125317960G>CCA358118141FAT4c.1549G>C (p.Gly517Arg)
c.-55+1983G>C (n.-55+1983G>C)
4g.125317960G>TCA358118142FAT4c.1549G>T (p.Gly517Cys)
c.-55+1983G>T (n.-55+1983G>T)
4g.125317961G>ACA358118143FAT4c.1550G>A (p.Gly517Asp)
c.-55+1984G>A (n.-55+1984G>A)
4g.125317961G>CCA358118144FAT4c.1550G>C (p.Gly517Ala)
c.-55+1984G>C (n.-55+1984G>C)
4g.125317961G>TCA358118145FAT4c.1550G>T (p.Gly517Val)
c.-55+1984G>T (n.-55+1984G>T)
4g.125317962C>ACA441367062FAT4c.1551C>A (p.Gly517=)
c.-55+1985C>A (n.-55+1985C>A)
4g.125317962C=CA1491601116FAT4c.1551C= (p.Gly517=)
c.-55+1985C= (n.-55+1985C=)
4g.125317962C>GCA441367064FAT4c.1551C>G (p.Gly517=)
c.-55+1985C>G (n.-55+1985C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317962C>TCA441367065FAT4c.1551C>T (p.Gly517=)
c.-55+1985C>T (n.-55+1985C>T)
4g.125317963A>CCA358118148FAT4c.1552A>C (p.Asn518His)
c.-55+1986A>C (n.-55+1986A>C)
4g.125317963A>GCA358118146FAT4c.1552A>G (p.Asn518Asp)
c.-55+1986A>G (n.-55+1986A>G)
 gnomAD v4
4g.125317963A>TCA358118147FAT4c.1552A>T (p.Asn518Tyr)
c.-55+1986A>T (n.-55+1986A>T)
4g.125317963_125317964insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTGCA2672009311FAT4c.1552_1553insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG (p.Asn518IlefsTer2)
c.-55+1986_-55+1987insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG (n.-55+1986_-55+1987insTCTGATAACTACGGGGCGCCCCCTGGCGCAGCAGTCCTGGCGCGCTCTTCTGTGGCAAGCCTGGTG)
 gnomAD v4
4g.125317964A=CA1491601122FAT4c.1553A= (p.Asn518=)
c.-55+1987A= (n.-55+1987A=)
4g.125317964A>CCA358118149FAT4c.1553A>C (p.Asn518Thr)
c.-55+1987A>C (n.-55+1987A>C)
4g.125317964A>GCA358118150FAT4c.1553A>G (p.Asn518Ser)
c.-55+1987A>G (n.-55+1987A>G)
 ClinVar dbSNP gnomAD v4
4g.125317964A>TCA358118151FAT4c.1553A>T (p.Asn518Ile)
c.-55+1987A>T (n.-55+1987A>T)
 COSMIC COSMIC
4g.125317965T>ACA358118152FAT4c.1554T>A (p.Asn518Lys)
c.-55+1988T>A (n.-55+1988T>A)
4g.125317965T>CCA441367075FAT4c.1554T>C (p.Asn518=)
c.-55+1988T>C (n.-55+1988T>C)
4g.125317965T>GCA358118153FAT4c.1554T>G (p.Asn518Lys)
c.-55+1988T>G (n.-55+1988T>G)
4g.125317966G>ACA3072008FAT4c.1555G>A (p.Gly519Arg)
c.-55+1989G>A (n.-55+1989G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317966G>CCA358118154FAT4c.1555G>C (p.Gly519Arg)
c.-55+1989G>C (n.-55+1989G>C)
4g.125317966G=CA1491601129FAT4c.1555G= (p.Gly519=)
c.-55+1989G= (n.-55+1989G=)
4g.125317966G>TCA358118155FAT4c.1555G>T (p.Gly519Ter)
c.-55+1989G>T (n.-55+1989G>T)
4g.125317967G>ACA358118156FAT4c.1556G>A (p.Gly519Glu)
c.-55+1990G>A (n.-55+1990G>A)
4g.125317967G>CCA358118157FAT4c.1556G>C (p.Gly519Ala)
c.-55+1990G>C (n.-55+1990G>C)
4g.125317967G>TCA358118158FAT4c.1556G>T (p.Gly519Val)
c.-55+1990G>T (n.-55+1990G>T)
4g.125317968A>CCA441367085FAT4c.1557A>C (p.Gly519=)
c.-55+1991A>C (n.-55+1991A>C)
4g.125317968A>GCA441367083FAT4c.1557A>G (p.Gly519=)
c.-55+1991A>G (n.-55+1991A>G)
4g.125317968A>TCA441367084FAT4c.1557A>T (p.Gly519=)
c.-55+1991A>T (n.-55+1991A>T)
4g.125317969C>ACA358118159FAT4c.1558C>A (p.Leu520Met)
c.-55+1992C>A (n.-55+1992C>A)
4g.125317969C>GCA358118160FAT4c.1558C>G (p.Leu520Val)
c.-55+1992C>G (n.-55+1992C>G)
 gnomAD v4
4g.125317969C>TCA441367086FAT4c.1558C>T (p.Leu520=)
c.-55+1992C>T (n.-55+1992C>T)
4g.125317970T>ACA358118161FAT4c.1559T>A (p.Leu520Gln)
c.-55+1993T>A (n.-55+1993T>A)
4g.125317970T>CCA358118163FAT4c.1559T>C (p.Leu520Pro)
c.-55+1993T>C (n.-55+1993T>C)
4g.125317970T>GCA358118162FAT4c.1559T>G (p.Leu520Arg)
c.-55+1993T>G (n.-55+1993T>G)
4g.125317971G>ACA441367095FAT4c.1560G>A (p.Leu520=)
c.-55+1994G>A (n.-55+1994G>A)
4g.125317971G>CCA441367097FAT4c.1560G>C (p.Leu520=)
c.-55+1994G>C (n.-55+1994G>C)
4g.125317971G>TCA441367096FAT4c.1560G>T (p.Leu520=)
c.-55+1994G>T (n.-55+1994G>T)
4g.125317972G>ACA358118164FAT4c.1561G>A (p.Gly521Arg)
c.-55+1995G>A (n.-55+1995G>A)
4g.125317972G>CCA358118165FAT4c.1561G>C (p.Gly521Arg)
c.-55+1995G>C (n.-55+1995G>C)
4g.125317972G>TCA358118166FAT4c.1561G>T (p.Gly521Ter)
c.-55+1995G>T (n.-55+1995G>T)
4g.125317973G>ACA358118167FAT4c.1562G>A (p.Gly521Glu)
c.-55+1996G>A (n.-55+1996G>A)
 dbSNP gnomAD v4
4g.125317973G>CCA358118168FAT4c.1562G>C (p.Gly521Ala)
c.-55+1996G>C (n.-55+1996G>C)
4g.125317973G=CA1491601135FAT4c.1562G= (p.Gly521=)
c.-55+1996G= (n.-55+1996G=)
4g.125317973G>TCA358118169FAT4c.1562G>T (p.Gly521Val)
c.-55+1996G>T (n.-55+1996G>T)
4g.125317974A=CA1491601139FAT4c.1563A= (p.Gly521=)
c.-55+1997A= (n.-55+1997A=)
4g.125317974A>CCA441367102FAT4c.1563A>C (p.Gly521=)
c.-55+1997A>C (n.-55+1997A>C)
4g.125317974A>GCA441367103FAT4c.1563A>G (p.Gly521=)
c.-55+1997A>G (n.-55+1997A>G)
4g.125317974A>TCA3072009FAT4c.1563A>T (p.Gly521=)
c.-55+1997A>T (n.-55+1997A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317975T>ACA358118170FAT4c.1564T>A (p.Trp522Arg)
c.-55+1998T>A (n.-55+1998T>A)
4g.125317975T>CCA358118171FAT4c.1564T>C (p.Trp522Arg)
c.-55+1998T>C (n.-55+1998T>C)
4g.125317975T>GCA358118172FAT4c.1564T>G (p.Trp522Gly)
c.-55+1998T>G (n.-55+1998T>G)
4g.125317976G>ACA358118173FAT4c.1565G>A (p.Trp522Ter)
c.-55+1999G>A (n.-55+1999G>A)
4g.125317976G>CCA358118174FAT4c.1565G>C (p.Trp522Ser)
c.-55+1999G>C (n.-55+1999G>C)
4g.125317976G>TCA358118175FAT4c.1565G>T (p.Trp522Leu)
c.-55+1999G>T (n.-55+1999G>T)
 gnomAD v4
4g.125317977G>ACA358118176FAT4c.1566G>A (p.Trp522Ter)
c.-55+2000G>A (n.-55+2000G>A)
4g.125317977G>CCA358118178FAT4c.1566G>C (p.Trp522Cys)
c.-55+2000G>C (n.-55+2000G>C)
4g.125317977G>TCA358118177FAT4c.1566G>T (p.Trp522Cys)
c.-55+2000G>T (n.-55+2000G>T)
 gnomAD v4
4g.125317978T>ACA358118179FAT4c.1567T>A (p.Phe523Ile)
c.-55+2001T>A (n.-55+2001T>A)
4g.125317978T>CCA358118180FAT4c.1567T>C (p.Phe523Leu)
c.-55+2001T>C (n.-55+2001T>C)
4g.125317978T>GCA358118181FAT4c.1567T>G (p.Phe523Val)
c.-55+2001T>G (n.-55+2001T>G)
4g.125317979T>ACA358118182FAT4c.1568T>A (p.Phe523Tyr)
c.-55+2002T>A (n.-55+2002T>A)
4g.125317979T>CCA358118183FAT4c.1568T>C (p.Phe523Ser)
c.-55+2002T>C (n.-55+2002T>C)
4g.125317979T>GCA358118184FAT4c.1568T>G (p.Phe523Cys)
c.-55+2002T>G (n.-55+2002T>G)
4g.125317980C>ACA358118185FAT4c.1569C>A (p.Phe523Leu)
c.-55+2003C>A (n.-55+2003C>A)
4g.125317980C>GCA358118186FAT4c.1569C>G (p.Phe523Leu)
c.-55+2003C>G (n.-55+2003C>G)
 ClinVar dbSNP gnomAD v4
4g.125317980C>TCA441367120FAT4c.1569C>T (p.Phe523=)
c.-55+2003C>T (n.-55+2003C>T)
4g.125317981C>ACA358118187FAT4c.1570C>A (p.His524Asn)
c.-55+2004C>A (n.-55+2004C>A)
4g.125317981C>GCA358118188FAT4c.1570C>G (p.His524Asp)
c.-55+2004C>G (n.-55+2004C>G)
4g.125317981C>TCA358118189FAT4c.1570C>T (p.His524Tyr)
c.-55+2004C>T (n.-55+2004C>T)
4g.125317982A=CA1491601144FAT4c.1571A= (p.His524=)
c.-55+2005A= (n.-55+2005A=)
4g.125317982A>CCA358118191FAT4c.1571A>C (p.His524Pro)
c.-55+2005A>C (n.-55+2005A>C)
 dbSNP
4g.125317982A>GCA3072010FAT4c.1571A>G (p.His524Arg)
c.-55+2005A>G (n.-55+2005A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317982A>TCA358118190FAT4c.1571A>T (p.His524Leu)
c.-55+2005A>T (n.-55+2005A>T)
4g.125317983T>ACA358118192FAT4c.1572T>A (p.His524Gln)
c.-55+2006T>A (n.-55+2006T>A)
4g.125317983T>CCA441367131FAT4c.1572T>C (p.His524=)
c.-55+2006T>C (n.-55+2006T>C)
 dbSNP gnomAD v4
4g.125317983T>GCA358118193FAT4c.1572T>G (p.His524Gln)
c.-55+2006T>G (n.-55+2006T>G)
4g.125317983T=CA1491601150FAT4c.1572T= (p.His524=)
c.-55+2006T= (n.-55+2006T=)
4g.125317984A>CCA358118194FAT4c.1573A>C (p.Ile525Leu)
c.-55+2007A>C (n.-55+2007A>C)
4g.125317984A>GCA358118195FAT4c.1573A>G (p.Ile525Val)
c.-55+2007A>G (n.-55+2007A>G)
 gnomAD v4
4g.125317984A>TCA358118196FAT4c.1573A>T (p.Ile525Phe)
c.-55+2007A>T (n.-55+2007A>T)
4g.125317985T>ACA358118197FAT4c.1574T>A (p.Ile525Asn)
c.-55+2008T>A (n.-55+2008T>A)
4g.125317985T>CCA358118198FAT4c.1574T>C (p.Ile525Thr)
c.-55+2008T>C (n.-55+2008T>C)
4g.125317985T>GCA358118199FAT4c.1574T>G (p.Ile525Ser)
c.-55+2008T>G (n.-55+2008T>G)
 gnomAD v4
4g.125317986C>ACA441367137FAT4c.1575C>A (p.Ile525=)
c.-55+2009C>A (n.-55+2009C>A)
4g.125317986C>GCA358118200FAT4c.1575C>G (p.Ile525Met)
c.-55+2009C>G (n.-55+2009C>G)
 COSMIC COSMIC
4g.125317986C>TCA441367139FAT4c.1575C>T (p.Ile525=)
c.-55+2009C>T (n.-55+2009C>T)
 gnomAD v4 COSMIC COSMIC
4g.125317987A>CCA358118201FAT4c.1576A>C (p.Ser526Arg)
c.-55+2010A>C (n.-55+2010A>C)
4g.125317987A>GCA358118202FAT4c.1576A>G (p.Ser526Gly)
c.-55+2010A>G (n.-55+2010A>G)
 gnomAD v4
4g.125317987A>TCA358118203FAT4c.1576A>T (p.Ser526Cys)
c.-55+2010A>T (n.-55+2010A>T)
4g.125317988G>ACA358118204FAT4c.1577G>A (p.Ser526Asn)
c.-55+2011G>A (n.-55+2011G>A)
 dbSNP
4g.125317988G>CCA358118205FAT4c.1577G>C (p.Ser526Thr)
c.-55+2011G>C (n.-55+2011G>C)
 dbSNP gnomAD v4
4g.125317988G=CA1491601154FAT4c.1577G= (p.Ser526=)
c.-55+2011G= (n.-55+2011G=)
4g.125317988G>TCA358118206FAT4c.1577G>T (p.Ser526Ile)
c.-55+2011G>T (n.-55+2011G>T)
4g.125317989T>ACA358118208FAT4c.1578T>A (p.Ser526Arg)
c.-55+2012T>A (n.-55+2012T>A)
4g.125317989T>CCA441367142FAT4c.1578T>C (p.Ser526=)
c.-55+2012T>C (n.-55+2012T>C)
4g.125317989T>GCA358118207FAT4c.1578T>G (p.Ser526Arg)
c.-55+2012T>G (n.-55+2012T>G)
4g.125317990G>ACA358118209FAT4c.1579G>A (p.Glu527Lys)
c.-55+2013G>A (n.-55+2013G>A)
 gnomAD v4
4g.125317990G>CCA358118210FAT4c.1579G>C (p.Glu527Gln)
c.-55+2013G>C (n.-55+2013G>C)
4g.125317990G>TCA358118211FAT4c.1579G>T (p.Glu527Ter)
c.-55+2013G>T (n.-55+2013G>T)
4g.125317991A>CCA358118212FAT4c.1580A>C (p.Glu527Ala)
c.-55+2014A>C (n.-55+2014A>C)
4g.125317991A>GCA358118213FAT4c.1580A>G (p.Glu527Gly)
c.-55+2014A>G (n.-55+2014A>G)
4g.125317991A>TCA358118214FAT4c.1580A>T (p.Glu527Val)
c.-55+2014A>T (n.-55+2014A>T)
4g.125317992A=CA1491601163FAT4c.1581A= (p.Glu527=)
c.-55+2015A= (n.-55+2015A=)
4g.125317992A>CCA358118215FAT4c.1581A>C (p.Glu527Asp)
c.-55+2015A>C (n.-55+2015A>C)
4g.125317992A>GCA441367154FAT4c.1581A>G (p.Glu527=)
c.-55+2015A>G (n.-55+2015A>G)
4g.125317992A>TCA104864172FAT4c.1581A>T (p.Glu527Asp)
c.-55+2015A>T (n.-55+2015A>T)
 dbSNP gnomAD v4
4g.125317993C>ACA358118216FAT4c.1582C>A (p.His528Asn)
c.-55+2016C>A (n.-55+2016C>A)
4g.125317993C=CA1491601169FAT4c.1582C= (p.His528=)
c.-55+2016C= (n.-55+2016C=)
4g.125317993C>GCA358118217FAT4c.1582C>G (p.His528Asp)
c.-55+2016C>G (n.-55+2016C>G)
4g.125317993C>TCA3072011FAT4c.1582C>T (p.His528Tyr)
c.-55+2016C>T (n.-55+2016C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317994A>CCA358118218FAT4c.1583A>C (p.His528Pro)
c.-55+2017A>C (n.-55+2017A>C)
4g.125317994A>GCA358118219FAT4c.1583A>G (p.His528Arg)
c.-55+2017A>G (n.-55+2017A>G)
4g.125317994A>TCA358118220FAT4c.1583A>T (p.His528Leu)
c.-55+2017A>T (n.-55+2017A>T)
4g.125317995T>ACA3072012FAT4c.1584T>A (p.His528Gln)
c.-55+2018T>A (n.-55+2018T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317995T>CCA3072013FAT4c.1584T>C (p.His528=)
c.-55+2018T>C (n.-55+2018T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317995T>GCA358118221FAT4c.1584T>G (p.His528Gln)
c.-55+2018T>G (n.-55+2018T>G)
4g.125317995T=CA1491601177FAT4c.1584T= (p.His528=)
c.-55+2018T= (n.-55+2018T=)
4g.125317996A>CCA358118222FAT4c.1585A>C (p.Ser529Arg)
c.-55+2019A>C (n.-55+2019A>C)
4g.125317996A>GCA358118223FAT4c.1585A>G (p.Ser529Gly)
c.-55+2019A>G (n.-55+2019A>G)
 gnomAD v4
4g.125317996A>TCA358118224FAT4c.1585A>T (p.Ser529Cys)
c.-55+2019A>T (n.-55+2019A>T)
4g.125317997G>ACA358118225FAT4c.1586G>A (p.Ser529Asn)
c.-55+2020G>A (n.-55+2020G>A)
4g.125317997G>CCA358118226FAT4c.1586G>C (p.Ser529Thr)
c.-55+2020G>C (n.-55+2020G>C)
 COSMIC COSMIC
4g.125317997G>TCA358118227FAT4c.1586G>T (p.Ser529Ile)
c.-55+2020G>T (n.-55+2020G>T)
4g.125317998C>ACA358118228FAT4c.1587C>A (p.Ser529Arg)
c.-55+2021C>A (n.-55+2021C>A)
4g.125317998C=CA1491601181FAT4c.1587C= (p.Ser529=)
c.-55+2021C= (n.-55+2021C=)
4g.125317998C>GCA358118229FAT4c.1587C>G (p.Ser529Arg)
c.-55+2021C>G (n.-55+2021C>G)
4g.125317998C>TCA3072014FAT4c.1587C>T (p.Ser529=)
c.-55+2021C>T (n.-55+2021C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317999G>ACA358118230FAT4c.1588G>A (p.Gly530Ser)
c.-55+2022G>A (n.-55+2022G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.125317999G>CCA358118231FAT4c.1588G>C (p.Gly530Arg)
c.-55+2022G>C (n.-55+2022G>C)
4g.125317999G=CA1491601187FAT4c.1588G= (p.Gly530=)
c.-55+2022G= (n.-55+2022G=)
4g.125317999G>TCA358118232FAT4c.1588G>T (p.Gly530Cys)
c.-55+2022G>T (n.-55+2022G>T)
4g.125318000G>ACA358118234FAT4c.1589G>A (p.Gly530Asp)
c.-55+2023G>A (n.-55+2023G>A)
4g.125318000G>CCA358118235FAT4c.1589G>C (p.Gly530Ala)
c.-55+2023G>C (n.-55+2023G>C)
4g.125318000G>TCA358118233FAT4c.1589G>T (p.Gly530Val)
c.-55+2023G>T (n.-55+2023G>T)
 gnomAD v4
4g.125318001C>ACA441367174FAT4c.1590C>A (p.Gly530=)
c.-55+2024C>A (n.-55+2024C>A)
 gnomAD v4
4g.125318001C=CA1491601189FAT4c.1590C= (p.Gly530=)
c.-55+2024C= (n.-55+2024C=)
4g.125318001C>GCA441367175FAT4c.1590C>G (p.Gly530=)
c.-55+2024C>G (n.-55+2024C>G)
4g.125318001C>TCA441367176FAT4c.1590C>T (p.Gly530=)
c.-55+2024C>T (n.-55+2024C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125318002C>ACA3072015FAT4c.1591C>A (p.Leu531Ile)
c.-55+2025C>A (n.-55+2025C>A)
 dbSNP ExAC gnomAD v2
4g.125318002C=CA1491601195FAT4c.1591C= (p.Leu531=)
c.-55+2025C= (n.-55+2025C=)
4g.125318002C>GCA358118236FAT4c.1591C>G (p.Leu531Val)
c.-55+2025C>G (n.-55+2025C>G)
4g.125318002C>TCA358118237FAT4c.1591C>T (p.Leu531Phe)
c.-55+2025C>T (n.-55+2025C>T)
4g.125318003T>ACA358118238FAT4c.1592T>A (p.Leu531His)
c.-55+2026T>A (n.-55+2026T>A)
4g.125318003T>CCA358118239FAT4c.1592T>C (p.Leu531Pro)
c.-55+2026T>C (n.-55+2026T>C)
4g.125318003T>GCA358118240FAT4c.1592T>G (p.Leu531Arg)
c.-55+2026T>G (n.-55+2026T>G)
4g.125318004C>ACA441367181FAT4c.1593C>A (p.Leu531=)
c.-55+2027C>A (n.-55+2027C>A)
4g.125318004C=CA1491601205FAT4c.1593C= (p.Leu531=)
c.-55+2027C= (n.-55+2027C=)
4g.125318004C>GCA441367182FAT4c.1593C>G (p.Leu531=)
c.-55+2027C>G (n.-55+2027C>G)
 ClinVar gnomAD v4
4g.125318004C>TCA3072016FAT4c.1593C>T (p.Leu531=)
c.-55+2027C>T (n.-55+2027C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125318005G>ACA3072017FAT4c.1594G>A (p.Val532Met)
c.-55+2028G>A (n.-55+2028G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318005G>CCA358118241FAT4c.1594G>C (p.Val532Leu)
c.-55+2028G>C (n.-55+2028G>C)
 dbSNP gnomAD v4
4g.125318005G=CA1491601210FAT4c.1594G= (p.Val532=)
c.-55+2028G= (n.-55+2028G=)
4g.125318005G>TCA358118242FAT4c.1594G>T (p.Val532Leu)
c.-55+2028G>T (n.-55+2028G>T)
4g.125318006T>ACA358118243FAT4c.1595T>A (p.Val532Glu)
c.-55+2029T>A (n.-55+2029T>A)
4g.125318006T>CCA358118244FAT4c.1595T>C (p.Val532Ala)
c.-55+2029T>C (n.-55+2029T>C)
4g.125318006T>GCA358118245FAT4c.1595T>G (p.Val532Gly)
c.-55+2029T>G (n.-55+2029T>G)
4g.125318007_125318020delCA2672009312FAT4c.1596_1609del (p.Thr533TrpfsTer6)
c.-55+2030_-55+2043del (n.-55+2030_-55+2043del)
 gnomAD v4
4g.125318007G>ACA441367190FAT4c.1596G>A (p.Val532=)
c.-55+2030G>A (n.-55+2030G>A)
 gnomAD v4
4g.125318007G>CCA441367192FAT4c.1596G>C (p.Val532=)
c.-55+2030G>C (n.-55+2030G>C)
 gnomAD v4
4g.125318007G>TCA441367195FAT4c.1596G>T (p.Val532=)
c.-55+2030G>T (n.-55+2030G>T)
4g.125318008A=CA1491601220FAT4c.1597A= (p.Thr533=)
c.-55+2031A= (n.-55+2031A=)
4g.125318008A>CCA358118248FAT4c.1597A>C (p.Thr533Pro)
c.-55+2031A>C (n.-55+2031A>C)
4g.125318008A>GCA358118246FAT4c.1597A>G (p.Thr533Ala)
c.-55+2031A>G (n.-55+2031A>G)
 dbSNP
4g.125318008A>TCA358118247FAT4c.1597A>T (p.Thr533Ser)
c.-55+2031A>T (n.-55+2031A>T)
4g.125318008_125318017delinsACCACTGGGTCA1491601219FAT4c.1597_1606delinsACCACTGGGT (p.Thr533=)
c.-55+2031_-55+2040delinsACCACTGGGT (n.-55+2031_-55+2040delinsACCACTGGGT)
4g.125318009C>ACA358118249FAT4c.1598C>A (p.Thr533Asn)
c.-55+2032C>A (n.-55+2032C>A)
4g.125318009C>GCA358118251FAT4c.1598C>G (p.Thr533Ser)
c.-55+2032C>G (n.-55+2032C>G)
4g.125318009C>TCA358118250FAT4c.1598C>T (p.Thr533Ile)
c.-55+2032C>T (n.-55+2032C>T)
4g.125318010delCA2580071537FAT4c.1599del (p.Thr534LeufsTer17)
c.-55+2033del (n.-55+2033del)
 ClinVar
4g.125318011_125318019delCA555019271FAT4c.1600_1608del (p.Thr534_Ser536del)
c.-55+2034_-55+2042del (n.-55+2034_-55+2042del)
 dbSNP gnomAD v2 gnomAD v4
4g.125318010C>ACA441366481FAT4c.1599C>A (p.Thr533=)
c.-55+2033C>A (n.-55+2033C>A)
4g.125318010C=CA1491601230FAT4c.1599C= (p.Thr533=)
c.-55+2033C= (n.-55+2033C=)
4g.125318010C>GCA441366483FAT4c.1599C>G (p.Thr533=)
c.-55+2033C>G (n.-55+2033C>G)
4g.125318010C>TCA104864225FAT4c.1599C>T (p.Thr533=)
c.-55+2033C>T (n.-55+2033C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125318011A>CCA358118252FAT4c.1600A>C (p.Thr534Pro)
c.-55+2034A>C (n.-55+2034A>C)
4g.125318011A>GCA358118253FAT4c.1600A>G (p.Thr534Ala)
c.-55+2034A>G (n.-55+2034A>G)
 gnomAD v4
4g.125318011A>TCA358118254FAT4c.1600A>T (p.Thr534Ser)
c.-55+2034A>T (n.-55+2034A>T)
4g.125318011_125318013delCA2672009313FAT4c.1600_1602del (p.Thr534del)
c.-55+2034_-55+2036del (n.-55+2034_-55+2036del)
 gnomAD v4
4g.125318012C>ACA358118255FAT4c.1601C>A (p.Thr534Asn)
c.-55+2035C>A (n.-55+2035C>A)
4g.125318012C>GCA358118256FAT4c.1601C>G (p.Thr534Ser)
c.-55+2035C>G (n.-55+2035C>G)
4g.125318012C>TCA358118257FAT4c.1601C>T (p.Thr534Ile)
c.-55+2035C>T (n.-55+2035C>T)
4g.125318013T>ACA441366485FAT4c.1602T>A (p.Thr534=)
c.-55+2036T>A (n.-55+2036T>A)
 COSMIC COSMIC
4g.125318013T>CCA441366486FAT4c.1602T>C (p.Thr534=)
c.-55+2036T>C (n.-55+2036T>C)
4g.125318013T>GCA441366488FAT4c.1602T>G (p.Thr534=)
c.-55+2036T>G (n.-55+2036T>G)
4g.125318013T=CA1491601235FAT4c.1602T= (p.Thr534=)
c.-55+2036T= (n.-55+2036T=)
4g.125318014G>ACA358118258FAT4c.1603G>A (p.Gly535Arg)
c.-55+2037G>A (n.-55+2037G>A)
4g.125318014G>CCA358118259FAT4c.1603G>C (p.Gly535Arg)
c.-55+2037G>C (n.-55+2037G>C)
4g.125318014G>TCA358118260FAT4c.1603G>T (p.Gly535Trp)
c.-55+2037G>T (n.-55+2037G>T)
4g.125318016dupCA104864230FAT4c.1605dup (p.Ser536ValfsTer8)
c.-55+2039dup (n.-55+2039dup)
 dbSNP
4g.125318015G>ACA358118261FAT4c.1604G>A (p.Gly535Glu)
c.-55+2038G>A (n.-55+2038G>A)
4g.125318015G>CCA358118262FAT4c.1604G>C (p.Gly535Ala)
c.-55+2038G>C (n.-55+2038G>C)
4g.125318015G>TCA358118263FAT4c.1604G>T (p.Gly535Val)
c.-55+2038G>T (n.-55+2038G>T)
4g.125318015_125318020delCA2672009314FAT4c.1604_1609del (p.Gly535_Ser537delinsAla)
c.-55+2038_-55+2043del (n.-55+2038_-55+2043del)
 gnomAD v4
4g.125318016G>ACA3072018FAT4c.1605G>A (p.Gly535=)
c.-55+2039G>A (n.-55+2039G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125318016G>CCA441366491FAT4c.1605G>C (p.Gly535=)
c.-55+2039G>C (n.-55+2039G>C)
4g.125318016G=CA1491601240FAT4c.1605G= (p.Gly535=)
c.-55+2039G= (n.-55+2039G=)
4g.125318016G>TCA441366492FAT4c.1605G>T (p.Gly535=)
c.-55+2039G>T (n.-55+2039G>T)
4g.125318017T>ACA358118264FAT4c.1606T>A (p.Ser536Thr)
c.-55+2040T>A (n.-55+2040T>A)
4g.125318017T>CCA358118265FAT4c.1606T>C (p.Ser536Pro)
c.-55+2040T>C (n.-55+2040T>C)
 gnomAD v4
4g.125318017T>GCA358118266FAT4c.1606T>G (p.Ser536Ala)
c.-55+2040T>G (n.-55+2040T>G)
4g.125318017_125318018delCA2555841526FAT4c.1606_1607del (p.Ser536LeufsTer7)
c.-55+2040_-55+2041del (n.-55+2040_-55+2041del)
4g.125318018C>ACA358118267FAT4c.1607C>A (p.Ser536Tyr)
c.-55+2041C>A (n.-55+2041C>A)
4g.125318018C=CA1491601242FAT4c.1607C= (p.Ser536=)
c.-55+2041C= (n.-55+2041C=)
4g.125318018C>GCA358118268FAT4c.1607C>G (p.Ser536Cys)
c.-55+2041C>G (n.-55+2041C>G)
4g.125318018C>TCA358118269FAT4c.1607C>T (p.Ser536Phe)
c.-55+2041C>T (n.-55+2041C>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched