Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317881G>ACA3071997FAT4c.1470G>A (p.Pro490=)
c.-55+1904G>A (n.-55+1904G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317881G>CCA441366768FAT4c.1470G>C (p.Pro490=)
c.-55+1904G>C (n.-55+1904G>C)
4g.125317881G=CA1491600933FAT4c.1470G= (p.Pro490=)
c.-55+1904G= (n.-55+1904G=)
4g.125317881G>TCA441366765FAT4c.1470G>T (p.Pro490=)
c.-55+1904G>T (n.-55+1904G>T)
4g.125317882G>ACA358117973FAT4c.1471G>A (p.Gly491Arg)
c.-55+1905G>A (n.-55+1905G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317882G>CCA358117974FAT4c.1471G>C (p.Gly491Arg)
c.-55+1905G>C (n.-55+1905G>C)
4g.125317882G=CA1491600939FAT4c.1471G= (p.Gly491=)
c.-55+1905G= (n.-55+1905G=)
4g.125317882G>TCA358117975FAT4c.1471G>T (p.Gly491Ter)
c.-55+1905G>T (n.-55+1905G>T)
4g.125317883G>ACA358117976FAT4c.1472G>A (p.Gly491Glu)
c.-55+1906G>A (n.-55+1906G>A)
4g.125317883G>CCA358117977FAT4c.1472G>C (p.Gly491Ala)
c.-55+1906G>C (n.-55+1906G>C)
4g.125317883G>TCA358117978FAT4c.1472G>T (p.Gly491Val)
c.-55+1906G>T (n.-55+1906G>T)
4g.125317884A=CA1491600940FAT4c.1473A= (p.Gly491=)
c.-55+1907A= (n.-55+1907A=)
4g.125317884A>CCA441366774FAT4c.1473A>C (p.Gly491=)
c.-55+1907A>C (n.-55+1907A>C)
4g.125317884A>GCA441366775FAT4c.1473A>G (p.Gly491=)
c.-55+1907A>G (n.-55+1907A>G)
4g.125317884A>TCA104864101FAT4c.1473A>T (p.Gly491=)
c.-55+1907A>T (n.-55+1907A>T)
 dbSNP
4g.125317885A>CCA358117979FAT4c.1474A>C (p.Ser492Arg)
c.-55+1908A>C (n.-55+1908A>C)
4g.125317885A>GCA358117980FAT4c.1474A>G (p.Ser492Gly)
c.-55+1908A>G (n.-55+1908A>G)
 gnomAD v4
4g.125317885A>TCA358117981FAT4c.1474A>T (p.Ser492Cys)
c.-55+1908A>T (n.-55+1908A>T)
4g.125317886G>ACA358117983FAT4c.1475G>A (p.Ser492Asn)
c.-55+1909G>A (n.-55+1909G>A)
4g.125317886G>CCA358117984FAT4c.1475G>C (p.Ser492Thr)
c.-55+1909G>C (n.-55+1909G>C)
4g.125317886G>TCA358117982FAT4c.1475G>T (p.Ser492Ile)
c.-55+1909G>T (n.-55+1909G>T)
4g.125317887C>ACA358117985FAT4c.1476C>A (p.Ser492Arg)
c.-55+1910C>A (n.-55+1910C>A)
4g.125317887C>GCA358117986FAT4c.1476C>G (p.Ser492Arg)
c.-55+1910C>G (n.-55+1910C>G)
4g.125317887C>TCA441366786FAT4c.1476C>T (p.Ser492=)
c.-55+1910C>T (n.-55+1910C>T)
4g.125317888T>ACA358117987FAT4c.1477T>A (p.Tyr493Asn)
c.-55+1911T>A (n.-55+1911T>A)
4g.125317888T>CCA3071998FAT4c.1477T>C (p.Tyr493His)
c.-55+1911T>C (n.-55+1911T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317888T>GCA358117988FAT4c.1477T>G (p.Tyr493Asp)
c.-55+1911T>G (n.-55+1911T>G)
4g.125317888T=CA1491600945FAT4c.1477T= (p.Tyr493=)
c.-55+1911T= (n.-55+1911T=)
4g.125317889A>CCA358117989FAT4c.1478A>C (p.Tyr493Ser)
c.-55+1912A>C (n.-55+1912A>C)
4g.125317889A>GCA358117990FAT4c.1478A>G (p.Tyr493Cys)
c.-55+1912A>G (n.-55+1912A>G)
4g.125317889A>TCA358117991FAT4c.1478A>T (p.Tyr493Phe)
c.-55+1912A>T (n.-55+1912A>T)
4g.125317890T>ACA358117992FAT4c.1479T>A (p.Tyr493Ter)
c.-55+1913T>A (n.-55+1913T>A)
4g.125317890T>CCA441366793FAT4c.1479T>C (p.Tyr493=)
c.-55+1913T>C (n.-55+1913T>C)
 ClinVar
4g.125317890T>GCA358117993FAT4c.1479T>G (p.Tyr493Ter)
c.-55+1913T>G (n.-55+1913T>G)
4g.125317891G>ACA358117994FAT4c.1480G>A (p.Val494Met)
c.-55+1914G>A (n.-55+1914G>A)
4g.125317891G>CCA358117995FAT4c.1480G>C (p.Val494Leu)
c.-55+1914G>C (n.-55+1914G>C)
4g.125317891G=CA1491600950FAT4c.1480G= (p.Val494=)
c.-55+1914G= (n.-55+1914G=)
4g.125317891G>TCA358117996FAT4c.1480G>T (p.Val494Leu)
c.-55+1914G>T (n.-55+1914G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125317892T>ACA358117998FAT4c.1481T>A (p.Val494Glu)
c.-55+1915T>A (n.-55+1915T>A)
4g.125317892T>CCA3071999FAT4c.1481T>C (p.Val494Ala)
c.-55+1915T>C (n.-55+1915T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317892T>GCA358117997FAT4c.1481T>G (p.Val494Gly)
c.-55+1915T>G (n.-55+1915T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317892T=CA1491600955FAT4c.1481T= (p.Val494=)
c.-55+1915T= (n.-55+1915T=)
4g.125317893G>ACA441366801FAT4c.1482G>A (p.Val494=)
c.-55+1916G>A (n.-55+1916G>A)
4g.125317893G>CCA441366803FAT4c.1482G>C (p.Val494=)
c.-55+1916G>C (n.-55+1916G>C)
4g.125317893G=CA1491600978FAT4c.1482G= (p.Val494=)
c.-55+1916G= (n.-55+1916G=)
4g.125317893G>TCA441366802FAT4c.1482G>T (p.Val494=)
c.-55+1916G>T (n.-55+1916G>T)
 ClinVar dbSNP gnomAD v4
4g.125317894A>CCA358117999FAT4c.1483A>C (p.Ser495Arg)
c.-55+1917A>C (n.-55+1917A>C)
4g.125317894A>GCA358118000FAT4c.1483A>G (p.Ser495Gly)
c.-55+1917A>G (n.-55+1917A>G)
4g.125317894A>TCA358118001FAT4c.1483A>T (p.Ser495Cys)
c.-55+1917A>T (n.-55+1917A>T)
4g.125317895G>ACA358118002FAT4c.1484G>A (p.Ser495Asn)
c.-55+1918G>A (n.-55+1918G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317895G>CCA358118003FAT4c.1484G>C (p.Ser495Thr)
c.-55+1918G>C (n.-55+1918G>C)
4g.125317895G=CA1491600982FAT4c.1484G= (p.Ser495=)
c.-55+1918G= (n.-55+1918G=)
4g.125317895G>TCA358118004FAT4c.1484G>T (p.Ser495Ile)
c.-55+1918G>T (n.-55+1918G>T)
4g.125317896T>ACA358118005FAT4c.1485T>A (p.Ser495Arg)
c.-55+1919T>A (n.-55+1919T>A)
4g.125317896T>CCA3072000FAT4c.1485T>C (p.Ser495=)
c.-55+1919T>C (n.-55+1919T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317896T>GCA358118006FAT4c.1485T>G (p.Ser495Arg)
c.-55+1919T>G (n.-55+1919T>G)
4g.125317896T=CA1491600988FAT4c.1485T= (p.Ser495=)
c.-55+1919T= (n.-55+1919T=)
4g.125317897G>ACA358118007FAT4c.1486G>A (p.Gly496Arg)
c.-55+1920G>A (n.-55+1920G>A)
 gnomAD v4
4g.125317897G>CCA358118008FAT4c.1486G>C (p.Gly496Arg)
c.-55+1920G>C (n.-55+1920G>C)
4g.125317897G>TCA358118009FAT4c.1486G>T (p.Gly496Trp)
c.-55+1920G>T (n.-55+1920G>T)
4g.125317898G>ACA358118012FAT4c.1487G>A (p.Gly496Glu)
c.-55+1921G>A (n.-55+1921G>A)
4g.125317898G>CCA358118010FAT4c.1487G>C (p.Gly496Ala)
c.-55+1921G>C (n.-55+1921G>C)
 gnomAD v4
4g.125317898G>TCA358118011FAT4c.1487G>T (p.Gly496Val)
c.-55+1921G>T (n.-55+1921G>T)
 gnomAD v4
4g.125317899G>ACA441366820FAT4c.1488G>A (p.Gly496=)
c.-55+1922G>A (n.-55+1922G>A)
 dbSNP
4g.125317899G>CCA441366821FAT4c.1488G>C (p.Gly496=)
c.-55+1922G>C (n.-55+1922G>C)
 dbSNP
4g.125317899G=CA1491600996FAT4c.1488G= (p.Gly496=)
c.-55+1922G= (n.-55+1922G=)
4g.125317899G>TCA441366822FAT4c.1488G>T (p.Gly496=)
c.-55+1922G>T (n.-55+1922G>T)
4g.125317900A=CA1491601002FAT4c.1489A= (p.Ile497=)
c.-55+1923A= (n.-55+1923A=)
4g.125317900A>CCA3072001FAT4c.1489A>C (p.Ile497Leu)
c.-55+1923A>C (n.-55+1923A>C)
 dbSNP ExAC gnomAD v2
4g.125317900A>GCA358118013FAT4c.1489A>G (p.Ile497Val)
c.-55+1923A>G (n.-55+1923A>G)
 ClinVar gnomAD v4
4g.125317900A>TCA358118014FAT4c.1489A>T (p.Ile497Leu)
c.-55+1923A>T (n.-55+1923A>T)
4g.125317901T>ACA358118015FAT4c.1490T>A (p.Ile497Lys)
c.-55+1924T>A (n.-55+1924T>A)
4g.125317901T>CCA358118016FAT4c.1490T>C (p.Ile497Thr)
c.-55+1924T>C (n.-55+1924T>C)
4g.125317901T>GCA358118017FAT4c.1490T>G (p.Ile497Arg)
c.-55+1924T>G (n.-55+1924T>G)
4g.125317902A>CCA441366828FAT4c.1491A>C (p.Ile497=)
c.-55+1925A>C (n.-55+1925A>C)
4g.125317902A>GCA358118018FAT4c.1491A>G (p.Ile497Met)
c.-55+1925A>G (n.-55+1925A>G)
 gnomAD v4
4g.125317902A>TCA441366835FAT4c.1491A>T (p.Ile497=)
c.-55+1925A>T (n.-55+1925A>T)
4g.125317903T>ACA358118019FAT4c.1492T>A (p.Ser498Thr)
c.-55+1926T>A (n.-55+1926T>A)
4g.125317903T>CCA358118020FAT4c.1492T>C (p.Ser498Pro)
c.-55+1926T>C (n.-55+1926T>C)
4g.125317903T>GCA358118021FAT4c.1492T>G (p.Ser498Ala)
c.-55+1926T>G (n.-55+1926T>G)
4g.125317904C>ACA358118022FAT4c.1493C>A (p.Ser498Tyr)
c.-55+1927C>A (n.-55+1927C>A)
4g.125317904C=CA1491601007FAT4c.1493C= (p.Ser498=)
c.-55+1927C= (n.-55+1927C=)
4g.125317904C>GCA358118023FAT4c.1493C>G (p.Ser498Cys)
c.-55+1927C>G (n.-55+1927C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317904C>TCA358118024FAT4c.1493C>T (p.Ser498Phe)
c.-55+1927C>T (n.-55+1927C>T)
4g.125317905T>ACA441366845FAT4c.1494T>A (p.Ser498=)
c.-55+1928T>A (n.-55+1928T>A)
4g.125317905T>CCA441366846FAT4c.1494T>C (p.Ser498=)
c.-55+1928T>C (n.-55+1928T>C)
4g.125317905T>GCA441366848FAT4c.1494T>G (p.Ser498=)
c.-55+1928T>G (n.-55+1928T>G)
4g.125317906G>ACA104864124FAT4c.1495G>A (p.Ala499Thr)
c.-55+1929G>A (n.-55+1929G>A)
 dbSNP
4g.125317906G>CCA358118026FAT4c.1495G>C (p.Ala499Pro)
c.-55+1929G>C (n.-55+1929G>C)
4g.125317906G=CA1491601011FAT4c.1495G= (p.Ala499=)
c.-55+1929G= (n.-55+1929G=)
4g.125317906G>TCA358118025FAT4c.1495G>T (p.Ala499Ser)
c.-55+1929G>T (n.-55+1929G>T)
4g.125317907C>ACA358118027FAT4c.1496C>A (p.Ala499Asp)
c.-55+1930C>A (n.-55+1930C>A)
4g.125317907C>GCA358118028FAT4c.1496C>G (p.Ala499Gly)
c.-55+1930C>G (n.-55+1930C>G)
4g.125317907C>TCA358118029FAT4c.1496C>T (p.Ala499Val)
c.-55+1930C>T (n.-55+1930C>T)
4g.125317908C>ACA441366857FAT4c.1497C>A (p.Ala499=)
c.-55+1931C>A (n.-55+1931C>A)
4g.125317908C=CA1491601015FAT4c.1497C= (p.Ala499=)
c.-55+1931C= (n.-55+1931C=)
4g.125317908C>GCA441366859FAT4c.1497C>G (p.Ala499=)
c.-55+1931C>G (n.-55+1931C>G)
4g.125317908C>TCA3072002FAT4c.1497C>T (p.Ala499=)
c.-55+1931C>T (n.-55+1931C>T)
 ClinVar dbSNP ExAC
4g.125317909A>CCA358118030FAT4c.1498A>C (p.Thr500Pro)
c.-55+1932A>C (n.-55+1932A>C)
4g.125317909A>GCA358118031FAT4c.1498A>G (p.Thr500Ala)
c.-55+1932A>G (n.-55+1932A>G)
4g.125317909A>TCA358118032FAT4c.1498A>T (p.Thr500Ser)
c.-55+1932A>T (n.-55+1932A>T)
4g.125317910C>ACA358118033FAT4c.1499C>A (p.Thr500Asn)
c.-55+1933C>A (n.-55+1933C>A)
4g.125317910C>GCA358118034FAT4c.1499C>G (p.Thr500Ser)
c.-55+1933C>G (n.-55+1933C>G)
4g.125317910C>TCA358118035FAT4c.1499C>T (p.Thr500Ile)
c.-55+1933C>T (n.-55+1933C>T)
4g.125317911T>ACA441366869FAT4c.1500T>A (p.Thr500=)
c.-55+1934T>A (n.-55+1934T>A)
 gnomAD v4
4g.125317911T>CCA441366870FAT4c.1500T>C (p.Thr500=)
c.-55+1934T>C (n.-55+1934T>C)
4g.125317911T>GCA3072003FAT4c.1500T>G (p.Thr500=)
c.-55+1934T>G (n.-55+1934T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317911T=CA1491601018FAT4c.1500T= (p.Thr500=)
c.-55+1934T= (n.-55+1934T=)
4g.125317912G>ACA358118036FAT4c.1501G>A (p.Asp501Asn)
c.-55+1935G>A (n.-55+1935G>A)
4g.125317912G>CCA358118037FAT4c.1501G>C (p.Asp501His)
c.-55+1935G>C (n.-55+1935G>C)
4g.125317912G>TCA358118038FAT4c.1501G>T (p.Asp501Tyr)
c.-55+1935G>T (n.-55+1935G>T)
4g.125317913A>CCA358118041FAT4c.1502A>C (p.Asp501Ala)
c.-55+1936A>C (n.-55+1936A>C)
4g.125317913A>GCA358118040FAT4c.1502A>G (p.Asp501Gly)
c.-55+1936A>G (n.-55+1936A>G)
4g.125317913A>TCA358118039FAT4c.1502A>T (p.Asp501Val)
c.-55+1936A>T (n.-55+1936A>T)
4g.125317914T>ACA358118042FAT4c.1503T>A (p.Asp501Glu)
c.-55+1937T>A (n.-55+1937T>A)
4g.125317914T>CCA441366883FAT4c.1503T>C (p.Asp501=)
c.-55+1937T>C (n.-55+1937T>C)
 gnomAD v4
4g.125317914T>GCA358118043FAT4c.1503T>G (p.Asp501Glu)
c.-55+1937T>G (n.-55+1937T>G)
4g.125317915G>ACA358118044FAT4c.1504G>A (p.Gly502Ser)
c.-55+1938G>A (n.-55+1938G>A)
4g.125317915G>CCA358118045FAT4c.1504G>C (p.Gly502Arg)
c.-55+1938G>C (n.-55+1938G>C)
4g.125317915G>TCA358118046FAT4c.1504G>T (p.Gly502Cys)
c.-55+1938G>T (n.-55+1938G>T)
4g.125317916G>ACA358118047FAT4c.1505G>A (p.Gly502Asp)
c.-55+1939G>A (n.-55+1939G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317916G>CCA358118048FAT4c.1505G>C (p.Gly502Ala)
c.-55+1939G>C (n.-55+1939G>C)
4g.125317916G=CA1491601021FAT4c.1505G= (p.Gly502=)
c.-55+1939G= (n.-55+1939G=)
4g.125317916G>TCA358118049FAT4c.1505G>T (p.Gly502Val)
c.-55+1939G>T (n.-55+1939G>T)
4g.125317917C>ACA441366893FAT4c.1506C>A (p.Gly502=)
c.-55+1940C>A (n.-55+1940C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317917C=CA1491601023FAT4c.1506C= (p.Gly502=)
c.-55+1940C= (n.-55+1940C=)
4g.125317917C>GCA441366894FAT4c.1506C>G (p.Gly502=)
c.-55+1940C>G (n.-55+1940C>G)
4g.125317917C>TCA441366895FAT4c.1506C>T (p.Gly502=)
c.-55+1940C>T (n.-55+1940C>T)
 gnomAD v4
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)

Number of alleles fetched