Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.78116128C>ACA360184990AP3B1c.*251G>T (n.*251G>T)
c.2075G>T (p.Ser692Ile)
c.1928G>T (p.Ser643Ile)
c.1274G>T (p.Ser425Ile)
c.*1837G>T (n.*1837G>T)
c.2018G>T (p.Ser673Ile)
c.2069G>T (p.Ser690Ile)
n.2233G>T
c.1940G>T (p.Ser647Ile)
n.60G>T
5g.78116128C>GCA360184991AP3B1c.*251G>C (n.*251G>C)
c.2075G>C (p.Ser692Thr)
c.1928G>C (p.Ser643Thr)
c.1274G>C (p.Ser425Thr)
c.*1837G>C (n.*1837G>C)
c.2018G>C (p.Ser673Thr)
c.2069G>C (p.Ser690Thr)
n.2233G>C
c.1940G>C (p.Ser647Thr)
n.60G>C
5g.78116128C>TCA360184992AP3B1c.*251G>A (n.*251G>A)
c.2075G>A (p.Ser692Asn)
c.1928G>A (p.Ser643Asn)
c.1274G>A (p.Ser425Asn)
c.*1837G>A (n.*1837G>A)
c.2018G>A (p.Ser673Asn)
c.2069G>A (p.Ser690Asn)
n.2233G>A
c.1940G>A (p.Ser647Asn)
n.60G>A
5g.78116129T>ACA360184994AP3B1c.*250A>T (n.*250A>T)
c.2074A>T (p.Ser692Cys)
c.1927A>T (p.Ser643Cys)
c.1273A>T (p.Ser425Cys)
c.*1836A>T (n.*1836A>T)
c.2017A>T (p.Ser673Cys)
c.2068A>T (p.Ser690Cys)
n.2232A>T
c.1939A>T (p.Ser647Cys)
n.59A>T
5g.78116129T>CCA360184995AP3B1c.*250A>G (n.*250A>G)
c.2074A>G (p.Ser692Gly)
c.1927A>G (p.Ser643Gly)
c.1273A>G (p.Ser425Gly)
c.*1836A>G (n.*1836A>G)
c.2017A>G (p.Ser673Gly)
c.2068A>G (p.Ser690Gly)
n.2232A>G
c.1939A>G (p.Ser647Gly)
n.59A>G
5g.78116129T>GCA360184993AP3B1c.*250A>C (n.*250A>C)
c.2074A>C (p.Ser692Arg)
c.1927A>C (p.Ser643Arg)
c.1273A>C (p.Ser425Arg)
c.*1836A>C (n.*1836A>C)
c.2017A>C (p.Ser673Arg)
c.2068A>C (p.Ser690Arg)
n.2232A>C
c.1939A>C (p.Ser647Arg)
n.59A>C
5g.78116130G>ACA445102711AP3B1c.*249C>T (n.*249C>T)
c.2073C>T (p.Asp691=)
c.1926C>T (p.Asp642=)
c.1272C>T (p.Asp424=)
c.*1835C>T (n.*1835C>T)
c.2016C>T (p.Asp672=)
c.2067C>T (p.Asp689=)
n.2231C>T
c.1938C>T (p.Asp646=)
n.58C>T
5g.78116130G>CCA360184996AP3B1c.*249C>G (n.*249C>G)
c.2073C>G (p.Asp691Glu)
c.1926C>G (p.Asp642Glu)
c.1272C>G (p.Asp424Glu)
c.*1835C>G (n.*1835C>G)
c.2016C>G (p.Asp672Glu)
c.2067C>G (p.Asp689Glu)
n.2231C>G
c.1938C>G (p.Asp646Glu)
n.58C>G
5g.78116130G>TCA360184997AP3B1c.*249C>A (n.*249C>A)
c.2073C>A (p.Asp691Glu)
c.1926C>A (p.Asp642Glu)
c.1272C>A (p.Asp424Glu)
c.*1835C>A (n.*1835C>A)
c.2016C>A (p.Asp672Glu)
c.2067C>A (p.Asp689Glu)
n.2231C>A
c.1938C>A (p.Asp646Glu)
n.58C>A
 gnomAD v4
5g.78116131T>ACA360184998AP3B1c.*248A>T (n.*248A>T)
c.2072A>T (p.Asp691Val)
c.1925A>T (p.Asp642Val)
c.1271A>T (p.Asp424Val)
c.*1834A>T (n.*1834A>T)
c.2015A>T (p.Asp672Val)
c.2066A>T (p.Asp689Val)
n.2230A>T
c.1937A>T (p.Asp646Val)
n.57A>T
5g.78116131T>CCA360184999AP3B1c.*248A>G (n.*248A>G)
c.2072A>G (p.Asp691Gly)
c.1925A>G (p.Asp642Gly)
c.1271A>G (p.Asp424Gly)
c.*1834A>G (n.*1834A>G)
c.2015A>G (p.Asp672Gly)
c.2066A>G (p.Asp689Gly)
n.2230A>G
c.1937A>G (p.Asp646Gly)
n.57A>G
5g.78116131T>GCA360185000AP3B1c.*248A>C (n.*248A>C)
c.2072A>C (p.Asp691Ala)
c.1925A>C (p.Asp642Ala)
c.1271A>C (p.Asp424Ala)
c.*1834A>C (n.*1834A>C)
c.2015A>C (p.Asp672Ala)
c.2066A>C (p.Asp689Ala)
n.2230A>C
c.1937A>C (p.Asp646Ala)
n.57A>C
5g.78116132C>ACA360185001AP3B1c.*247G>T (n.*247G>T)
c.2071G>T (p.Asp691Tyr)
c.1924G>T (p.Asp642Tyr)
c.1270G>T (p.Asp424Tyr)
c.*1833G>T (n.*1833G>T)
c.2014G>T (p.Asp672Tyr)
c.2065G>T (p.Asp689Tyr)
n.2229G>T
c.1936G>T (p.Asp646Tyr)
n.56G>T
 dbSNP
5g.78116132C=CA1557301298AP3B1c.*247G= (n.*247G=)
c.2071G= (p.Asp691=)
c.1924G= (p.Asp642=)
c.1270G= (p.Asp424=)
c.*1833G= (n.*1833G=)
c.2014G= (p.Asp672=)
c.2065G= (p.Asp689=)
n.2229G=
c.1936G= (p.Asp646=)
n.56G=
5g.78116132C>GCA360185002AP3B1c.*247G>C (n.*247G>C)
c.2071G>C (p.Asp691His)
c.1924G>C (p.Asp642His)
c.1270G>C (p.Asp424His)
c.*1833G>C (n.*1833G>C)
c.2014G>C (p.Asp672His)
c.2065G>C (p.Asp689His)
n.2229G>C
c.1936G>C (p.Asp646His)
n.56G>C
5g.78116132C>TCA360185003AP3B1c.*247G>A (n.*247G>A)
c.2071G>A (p.Asp691Asn)
c.1924G>A (p.Asp642Asn)
c.1270G>A (p.Asp424Asn)
c.*1833G>A (n.*1833G>A)
c.2014G>A (p.Asp672Asn)
c.2065G>A (p.Asp689Asn)
n.2229G>A
c.1936G>A (p.Asp646Asn)
n.56G>A
 dbSNP
5g.78116133A=CA1557301304AP3B1c.*246T= (n.*246T=)
c.2070T= (p.Ser690=)
c.1923T= (p.Ser641=)
c.1269T= (p.Ser423=)
c.*1832T= (n.*1832T=)
c.2013T= (p.Ser671=)
c.2064T= (p.Ser688=)
n.2228T=
c.1935T= (p.Ser645=)
n.55T=
5g.78116133A>CCA360185004AP3B1c.*246T>G (n.*246T>G)
c.2070T>G (p.Ser690Arg)
c.1923T>G (p.Ser641Arg)
c.1269T>G (p.Ser423Arg)
c.*1832T>G (n.*1832T>G)
c.2013T>G (p.Ser671Arg)
c.2064T>G (p.Ser688Arg)
n.2228T>G
c.1935T>G (p.Ser645Arg)
n.55T>G
5g.78116133A>GCA445102720AP3B1c.*246T>C (n.*246T>C)
c.2070T>C (p.Ser690=)
c.1923T>C (p.Ser641=)
c.1269T>C (p.Ser423=)
c.*1832T>C (n.*1832T>C)
c.2013T>C (p.Ser671=)
c.2064T>C (p.Ser688=)
n.2228T>C
c.1935T>C (p.Ser645=)
n.55T>C
5g.78116133A>TCA360185005AP3B1c.*246T>A (n.*246T>A)
c.2070T>A (p.Ser690Arg)
c.1923T>A (p.Ser641Arg)
c.1269T>A (p.Ser423Arg)
c.*1832T>A (n.*1832T>A)
c.2013T>A (p.Ser671Arg)
c.2064T>A (p.Ser688Arg)
n.2228T>A
c.1935T>A (p.Ser645Arg)
n.55T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78116134C>ACA360185006AP3B1c.*245G>T (n.*245G>T)
c.2069G>T (p.Ser690Ile)
c.1922G>T (p.Ser641Ile)
c.1268G>T (p.Ser423Ile)
c.*1831G>T (n.*1831G>T)
c.2012G>T (p.Ser671Ile)
c.2063G>T (p.Ser688Ile)
n.2227G>T
c.1934G>T (p.Ser645Ile)
n.54G>T
5g.78116134C=CA1557301307AP3B1c.*245G= (n.*245G=)
c.2069G= (p.Ser690=)
c.1922G= (p.Ser641=)
c.1268G= (p.Ser423=)
c.*1831G= (n.*1831G=)
c.2012G= (p.Ser671=)
c.2063G= (p.Ser688=)
n.2227G=
c.1934G= (p.Ser645=)
n.54G=
5g.78116134C>GCA360185007AP3B1c.*245G>C (n.*245G>C)
c.2069G>C (p.Ser690Thr)
c.1922G>C (p.Ser641Thr)
c.1268G>C (p.Ser423Thr)
c.*1831G>C (n.*1831G>C)
c.2012G>C (p.Ser671Thr)
c.2063G>C (p.Ser688Thr)
n.2227G>C
c.1934G>C (p.Ser645Thr)
n.54G>C
5g.78116134C>TCA3316882AP3B1c.*245G>A (n.*245G>A)
c.2069G>A (p.Ser690Asn)
c.1922G>A (p.Ser641Asn)
c.1268G>A (p.Ser423Asn)
c.*1831G>A (n.*1831G>A)
c.2012G>A (p.Ser671Asn)
c.2063G>A (p.Ser688Asn)
n.2227G>A
c.1934G>A (p.Ser645Asn)
n.54G>A
 dbSNP ExAC gnomAD v2
5g.78116135T>ACA360185010AP3B1c.*244A>T (n.*244A>T)
c.2068A>T (p.Ser690Cys)
c.1921A>T (p.Ser641Cys)
c.1267A>T (p.Ser423Cys)
c.*1830A>T (n.*1830A>T)
c.2011A>T (p.Ser671Cys)
c.2062A>T (p.Ser688Cys)
n.2226A>T
c.1933A>T (p.Ser645Cys)
n.53A>T
5g.78116135T>CCA360185009AP3B1c.*244A>G (n.*244A>G)
c.2068A>G (p.Ser690Gly)
c.1921A>G (p.Ser641Gly)
c.1267A>G (p.Ser423Gly)
c.*1830A>G (n.*1830A>G)
c.2011A>G (p.Ser671Gly)
c.2062A>G (p.Ser688Gly)
n.2226A>G
c.1933A>G (p.Ser645Gly)
n.53A>G
5g.78116135T>GCA360185008AP3B1c.*244A>C (n.*244A>C)
c.2068A>C (p.Ser690Arg)
c.1921A>C (p.Ser641Arg)
c.1267A>C (p.Ser423Arg)
c.*1830A>C (n.*1830A>C)
c.2011A>C (p.Ser671Arg)
c.2062A>C (p.Ser688Arg)
n.2226A>C
c.1933A>C (p.Ser645Arg)
n.53A>C
5g.78116136G>ACA445102725AP3B1c.*243C>T (n.*243C>T)
c.2067C>T (p.Ser689=)
c.1920C>T (p.Ser640=)
c.1266C>T (p.Ser422=)
c.*1829C>T (n.*1829C>T)
c.2010C>T (p.Ser670=)
c.2061C>T (p.Ser687=)
n.2225C>T
c.1932C>T (p.Ser644=)
n.52C>T
5g.78116136G>CCA360185011AP3B1c.*243C>G (n.*243C>G)
c.2067C>G (p.Ser689Arg)
c.1920C>G (p.Ser640Arg)
c.1266C>G (p.Ser422Arg)
c.*1829C>G (n.*1829C>G)
c.2010C>G (p.Ser670Arg)
c.2061C>G (p.Ser687Arg)
n.2225C>G
c.1932C>G (p.Ser644Arg)
n.52C>G
5g.78116136G>TCA360185012AP3B1c.*243C>A (n.*243C>A)
c.2067C>A (p.Ser689Arg)
c.1920C>A (p.Ser640Arg)
c.1266C>A (p.Ser422Arg)
c.*1829C>A (n.*1829C>A)
c.2010C>A (p.Ser670Arg)
c.2061C>A (p.Ser687Arg)
n.2225C>A
c.1932C>A (p.Ser644Arg)
n.52C>A
 gnomAD v4
5g.78116137C>ACA360185013AP3B1c.*242G>T (n.*242G>T)
c.2066G>T (p.Ser689Ile)
c.1919G>T (p.Ser640Ile)
c.1265G>T (p.Ser422Ile)
c.*1828G>T (n.*1828G>T)
c.2009G>T (p.Ser670Ile)
c.2060G>T (p.Ser687Ile)
n.2224G>T
c.1931G>T (p.Ser644Ile)
n.51G>T
 ClinVar
5g.78116137C>GCA360185014AP3B1c.*242G>C (n.*242G>C)
c.2066G>C (p.Ser689Thr)
c.1919G>C (p.Ser640Thr)
c.1265G>C (p.Ser422Thr)
c.*1828G>C (n.*1828G>C)
c.2009G>C (p.Ser670Thr)
c.2060G>C (p.Ser687Thr)
n.2224G>C
c.1931G>C (p.Ser644Thr)
n.51G>C
5g.78116137C>TCA360185015AP3B1c.*242G>A (n.*242G>A)
c.2066G>A (p.Ser689Asn)
c.1919G>A (p.Ser640Asn)
c.1265G>A (p.Ser422Asn)
c.*1828G>A (n.*1828G>A)
c.2009G>A (p.Ser670Asn)
c.2060G>A (p.Ser687Asn)
n.2224G>A
c.1931G>A (p.Ser644Asn)
n.51G>A
 COSMIC
5g.78116138T>ACA360185016AP3B1c.*241A>T (n.*241A>T)
c.2065A>T (p.Ser689Cys)
c.1918A>T (p.Ser640Cys)
c.1264A>T (p.Ser422Cys)
c.*1827A>T (n.*1827A>T)
c.2008A>T (p.Ser670Cys)
c.2059A>T (p.Ser687Cys)
n.2223A>T
c.1930A>T (p.Ser644Cys)
n.50A>T
5g.78116138T>CCA360185017AP3B1c.*241A>G (n.*241A>G)
c.2065A>G (p.Ser689Gly)
c.1918A>G (p.Ser640Gly)
c.1264A>G (p.Ser422Gly)
c.*1827A>G (n.*1827A>G)
c.2008A>G (p.Ser670Gly)
c.2059A>G (p.Ser687Gly)
n.2223A>G
c.1930A>G (p.Ser644Gly)
n.50A>G
5g.78116138T>GCA360185018AP3B1c.*241A>C (n.*241A>C)
c.2065A>C (p.Ser689Arg)
c.1918A>C (p.Ser640Arg)
c.1264A>C (p.Ser422Arg)
c.*1827A>C (n.*1827A>C)
c.2008A>C (p.Ser670Arg)
c.2059A>C (p.Ser687Arg)
n.2223A>C
c.1930A>C (p.Ser644Arg)
n.50A>C
5g.78116139A>CCA360185019AP3B1c.*240T>G (n.*240T>G)
c.2064T>G (p.Ser688Arg)
c.1917T>G (p.Ser639Arg)
c.1263T>G (p.Ser421Arg)
c.*1826T>G (n.*1826T>G)
c.2007T>G (p.Ser669Arg)
c.2058T>G (p.Ser686Arg)
n.2222T>G
c.1929T>G (p.Ser643Arg)
n.49T>G
5g.78116139A>GCA445102732AP3B1c.*240T>C (n.*240T>C)
c.2064T>C (p.Ser688=)
c.1917T>C (p.Ser639=)
c.1263T>C (p.Ser421=)
c.*1826T>C (n.*1826T>C)
c.2007T>C (p.Ser669=)
c.2058T>C (p.Ser686=)
n.2222T>C
c.1929T>C (p.Ser643=)
n.49T>C
 gnomAD v4
5g.78116139A>TCA360185020AP3B1c.*240T>A (n.*240T>A)
c.2064T>A (p.Ser688Arg)
c.1917T>A (p.Ser639Arg)
c.1263T>A (p.Ser421Arg)
c.*1826T>A (n.*1826T>A)
c.2007T>A (p.Ser669Arg)
c.2058T>A (p.Ser686Arg)
n.2222T>A
c.1929T>A (p.Ser643Arg)
n.49T>A
5g.78116140C>ACA360185021AP3B1c.*239G>T (n.*239G>T)
c.2063G>T (p.Ser688Ile)
c.1916G>T (p.Ser639Ile)
c.1262G>T (p.Ser421Ile)
c.*1825G>T (n.*1825G>T)
c.2006G>T (p.Ser669Ile)
c.2057G>T (p.Ser686Ile)
n.2221G>T
c.1928G>T (p.Ser643Ile)
n.48G>T
5g.78116140C=CA1557301315AP3B1c.*239G= (n.*239G=)
c.2063G= (p.Ser688=)
c.1916G= (p.Ser639=)
c.1262G= (p.Ser421=)
c.*1825G= (n.*1825G=)
c.2006G= (p.Ser669=)
c.2057G= (p.Ser686=)
n.2221G=
c.1928G= (p.Ser643=)
n.48G=
5g.78116140C>GCA360185022AP3B1c.*239G>C (n.*239G>C)
c.2063G>C (p.Ser688Thr)
c.1916G>C (p.Ser639Thr)
c.1262G>C (p.Ser421Thr)
c.*1825G>C (n.*1825G>C)
c.2006G>C (p.Ser669Thr)
c.2057G>C (p.Ser686Thr)
n.2221G>C
c.1928G>C (p.Ser643Thr)
n.48G>C
5g.78116140C>TCA360185023AP3B1c.*239G>A (n.*239G>A)
c.2063G>A (p.Ser688Asn)
c.1916G>A (p.Ser639Asn)
c.1262G>A (p.Ser421Asn)
c.*1825G>A (n.*1825G>A)
c.2006G>A (p.Ser669Asn)
c.2057G>A (p.Ser686Asn)
n.2221G>A
c.1928G>A (p.Ser643Asn)
n.48G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78116141T>ACA360185025AP3B1c.*238A>T (n.*238A>T)
c.2062A>T (p.Ser688Cys)
c.1915A>T (p.Ser639Cys)
c.1261A>T (p.Ser421Cys)
c.*1824A>T (n.*1824A>T)
c.2005A>T (p.Ser669Cys)
c.2056A>T (p.Ser686Cys)
n.2220A>T
c.1927A>T (p.Ser643Cys)
n.47A>T
5g.78116141T>CCA360185026AP3B1c.*238A>G (n.*238A>G)
c.2062A>G (p.Ser688Gly)
c.1915A>G (p.Ser639Gly)
c.1261A>G (p.Ser421Gly)
c.*1824A>G (n.*1824A>G)
c.2005A>G (p.Ser669Gly)
c.2056A>G (p.Ser686Gly)
n.2220A>G
c.1927A>G (p.Ser643Gly)
n.47A>G
5g.78116141T>GCA360185024AP3B1c.*238A>C (n.*238A>C)
c.2062A>C (p.Ser688Arg)
c.1915A>C (p.Ser639Arg)
c.1261A>C (p.Ser421Arg)
c.*1824A>C (n.*1824A>C)
c.2005A>C (p.Ser669Arg)
c.2056A>C (p.Ser686Arg)
n.2220A>C
c.1927A>C (p.Ser643Arg)
n.47A>C
5g.78116142A=CA1557301319AP3B1c.*237T= (n.*237T=)
c.2061T= (p.Asp687=)
c.1914T= (p.Asp638=)
c.1260T= (p.Asp420=)
c.*1823T= (n.*1823T=)
c.2004T= (p.Asp668=)
c.2055T= (p.Asp685=)
n.2219T=
c.1926T= (p.Asp642=)
n.46T=
5g.78116142A>CCA360185028AP3B1c.*237T>G (n.*237T>G)
c.2061T>G (p.Asp687Glu)
c.1914T>G (p.Asp638Glu)
c.1260T>G (p.Asp420Glu)
c.*1823T>G (n.*1823T>G)
c.2004T>G (p.Asp668Glu)
c.2055T>G (p.Asp685Glu)
n.2219T>G
c.1926T>G (p.Asp642Glu)
n.46T>G
5g.78116142A>GCA445102742AP3B1c.*237T>C (n.*237T>C)
c.2061T>C (p.Asp687=)
c.1914T>C (p.Asp638=)
c.1260T>C (p.Asp420=)
c.*1823T>C (n.*1823T>C)
c.2004T>C (p.Asp668=)
c.2055T>C (p.Asp685=)
n.2219T>C
c.1926T>C (p.Asp642=)
n.46T>C
 dbSNP gnomAD v4
5g.78116142A>TCA360185027AP3B1c.*237T>A (n.*237T>A)
c.2061T>A (p.Asp687Glu)
c.1914T>A (p.Asp638Glu)
c.1260T>A (p.Asp420Glu)
c.*1823T>A (n.*1823T>A)
c.2004T>A (p.Asp668Glu)
c.2055T>A (p.Asp685Glu)
n.2219T>A
c.1926T>A (p.Asp642Glu)
n.46T>A
5g.78116143T>ACA360185030AP3B1c.*236A>T (n.*236A>T)
c.2060A>T (p.Asp687Val)
c.1913A>T (p.Asp638Val)
c.1259A>T (p.Asp420Val)
c.*1822A>T (n.*1822A>T)
c.2003A>T (p.Asp668Val)
c.2054A>T (p.Asp685Val)
n.2218A>T
c.1925A>T (p.Asp642Val)
n.45A>T
 gnomAD v4
5g.78116143T>CCA360185029AP3B1c.*236A>G (n.*236A>G)
c.2060A>G (p.Asp687Gly)
c.1913A>G (p.Asp638Gly)
c.1259A>G (p.Asp420Gly)
c.*1822A>G (n.*1822A>G)
c.2003A>G (p.Asp668Gly)
c.2054A>G (p.Asp685Gly)
n.2218A>G
c.1925A>G (p.Asp642Gly)
n.45A>G
 dbSNP gnomAD v3 gnomAD v4
5g.78116143T>GCA360185031AP3B1c.*236A>C (n.*236A>C)
c.2060A>C (p.Asp687Ala)
c.1913A>C (p.Asp638Ala)
c.1259A>C (p.Asp420Ala)
c.*1822A>C (n.*1822A>C)
c.2003A>C (p.Asp668Ala)
c.2054A>C (p.Asp685Ala)
n.2218A>C
c.1925A>C (p.Asp642Ala)
n.45A>C
5g.78116143T=CA1557301323AP3B1c.*236A= (n.*236A=)
c.2060A= (p.Asp687=)
c.1913A= (p.Asp638=)
c.1259A= (p.Asp420=)
c.*1822A= (n.*1822A=)
c.2003A= (p.Asp668=)
c.2054A= (p.Asp685=)
n.2218A=
c.1925A= (p.Asp642=)
n.45A=
5g.78116143_78116146delinsTCAGCA1557301325AP3B1c.*233_*236delinsCTGA (n.*233_*236delinsCTGA)
c.2057_2060delinsCTGA (p.Ser686=)
c.1910_1913delinsCTGA (p.Ser637=)
c.1256_1259delinsCTGA (p.Ser419=)
c.*1819_*1822delinsCTGA (n.*1819_*1822delinsCTGA)
c.2000_2003delinsCTGA (p.Ser667=)
c.2051_2054delinsCTGA (p.Ser684=)
n.2215_2218delinsCTGA
c.1922_1925delinsCTGA (p.Ser641=)
n.42_45delinsCTGA
5g.78116144C>ACA360185032AP3B1c.*235G>T (n.*235G>T)
c.2059G>T (p.Asp687Tyr)
c.1912G>T (p.Asp638Tyr)
c.1258G>T (p.Asp420Tyr)
c.*1821G>T (n.*1821G>T)
c.2002G>T (p.Asp668Tyr)
c.2053G>T (p.Asp685Tyr)
n.2217G>T
c.1924G>T (p.Asp642Tyr)
n.44G>T
5g.78116144C>GCA360185034AP3B1c.*235G>C (n.*235G>C)
c.2059G>C (p.Asp687His)
c.1912G>C (p.Asp638His)
c.1258G>C (p.Asp420His)
c.*1821G>C (n.*1821G>C)
c.2002G>C (p.Asp668His)
c.2053G>C (p.Asp685His)
n.2217G>C
c.1924G>C (p.Asp642His)
n.44G>C
5g.78116144C>TCA360185033AP3B1c.*235G>A (n.*235G>A)
c.2059G>A (p.Asp687Asn)
c.1912G>A (p.Asp638Asn)
c.1258G>A (p.Asp420Asn)
c.*1821G>A (n.*1821G>A)
c.2002G>A (p.Asp668Asn)
c.2053G>A (p.Asp685Asn)
n.2217G>A
c.1924G>A (p.Asp642Asn)
n.44G>A
5g.78116144_78116146delCA1557301327AP3B1c.*233_*235del (n.*233_*235del)
c.2057_2059del (p.Ser686_Asp687delinsTyr)
c.1910_1912del (p.Ser637_Asp638delinsTyr)
c.1256_1258del (p.Ser419_Asp420delinsTyr)
c.*1819_*1821del (n.*1819_*1821del)
c.2000_2002del (p.Ser667_Asp668delinsTyr)
c.2051_2053del (p.Ser684_Asp685delinsTyr)
n.2215_2217del
c.1922_1924del (p.Ser641_Asp642delinsTyr)
n.42_44del
 dbSNP
5g.78116145A>CCA445102749AP3B1c.*234T>G (n.*234T>G)
c.2058T>G (p.Ser686=)
c.1911T>G (p.Ser637=)
c.1257T>G (p.Ser419=)
c.*1820T>G (n.*1820T>G)
c.2001T>G (p.Ser667=)
c.2052T>G (p.Ser684=)
n.2216T>G
c.1923T>G (p.Ser641=)
n.43T>G
5g.78116145A>GCA445102756AP3B1c.*234T>C (n.*234T>C)
c.2058T>C (p.Ser686=)
c.1911T>C (p.Ser637=)
c.1257T>C (p.Ser419=)
c.*1820T>C (n.*1820T>C)
c.2001T>C (p.Ser667=)
c.2052T>C (p.Ser684=)
n.2216T>C
c.1923T>C (p.Ser641=)
n.43T>C
 gnomAD v4
5g.78116145A>TCA445102751AP3B1c.*234T>A (n.*234T>A)
c.2058T>A (p.Ser686=)
c.1911T>A (p.Ser637=)
c.1257T>A (p.Ser419=)
c.*1820T>A (n.*1820T>A)
c.2001T>A (p.Ser667=)
c.2052T>A (p.Ser684=)
n.2216T>A
c.1923T>A (p.Ser641=)
n.43T>A
5g.78116146G>ACA360185035AP3B1c.*233C>T (n.*233C>T)
c.2057C>T (p.Ser686Phe)
c.1910C>T (p.Ser637Phe)
c.1256C>T (p.Ser419Phe)
c.*1819C>T (n.*1819C>T)
c.2000C>T (p.Ser667Phe)
c.2051C>T (p.Ser684Phe)
n.2215C>T
c.1922C>T (p.Ser641Phe)
n.42C>T
5g.78116146G>CCA360185036AP3B1c.*233C>G (n.*233C>G)
c.2057C>G (p.Ser686Cys)
c.1910C>G (p.Ser637Cys)
c.1256C>G (p.Ser419Cys)
c.*1819C>G (n.*1819C>G)
c.2000C>G (p.Ser667Cys)
c.2051C>G (p.Ser684Cys)
n.2215C>G
c.1922C>G (p.Ser641Cys)
n.42C>G
5g.78116146G>TCA360185037AP3B1c.*233C>A (n.*233C>A)
c.2057C>A (p.Ser686Tyr)
c.1910C>A (p.Ser637Tyr)
c.1256C>A (p.Ser419Tyr)
c.*1819C>A (n.*1819C>A)
c.2000C>A (p.Ser667Tyr)
c.2051C>A (p.Ser684Tyr)
n.2215C>A
c.1922C>A (p.Ser641Tyr)
n.42C>A
5g.78116147A>CCA360185038AP3B1c.*232T>G (n.*232T>G)
c.2056T>G (p.Ser686Ala)
c.1909T>G (p.Ser637Ala)
c.1255T>G (p.Ser419Ala)
c.*1818T>G (n.*1818T>G)
c.1999T>G (p.Ser667Ala)
c.2050T>G (p.Ser684Ala)
n.2214T>G
c.1921T>G (p.Ser641Ala)
n.41T>G
5g.78116147A>GCA360185039AP3B1c.*232T>C (n.*232T>C)
c.2056T>C (p.Ser686Pro)
c.1909T>C (p.Ser637Pro)
c.1255T>C (p.Ser419Pro)
c.*1818T>C (n.*1818T>C)
c.1999T>C (p.Ser667Pro)
c.2050T>C (p.Ser684Pro)
n.2214T>C
c.1921T>C (p.Ser641Pro)
n.41T>C
 ClinVar
5g.78116147A>TCA360185040AP3B1c.*232T>A (n.*232T>A)
c.2056T>A (p.Ser686Thr)
c.1909T>A (p.Ser637Thr)
c.1255T>A (p.Ser419Thr)
c.*1818T>A (n.*1818T>A)
c.1999T>A (p.Ser667Thr)
c.2050T>A (p.Ser684Thr)
n.2214T>A
c.1921T>A (p.Ser641Thr)
n.41T>A
5g.78116148A>CCA445102764AP3B1c.*231T>G (n.*231T>G)
c.2055T>G (p.Ser685=)
c.1908T>G (p.Ser636=)
c.1254T>G (p.Ser418=)
c.*1817T>G (n.*1817T>G)
c.1998T>G (p.Ser666=)
c.2049T>G (p.Ser683=)
n.2213T>G
c.1920T>G (p.Ser640=)
n.40T>G
5g.78116148A>GCA445102765AP3B1c.*231T>C (n.*231T>C)
c.2055T>C (p.Ser685=)
c.1908T>C (p.Ser636=)
c.1254T>C (p.Ser418=)
c.*1817T>C (n.*1817T>C)
c.1998T>C (p.Ser666=)
c.2049T>C (p.Ser683=)
n.2213T>C
c.1920T>C (p.Ser640=)
n.40T>C
5g.78116148A>TCA445102767AP3B1c.*231T>A (n.*231T>A)
c.2055T>A (p.Ser685=)
c.1908T>A (p.Ser636=)
c.1254T>A (p.Ser418=)
c.*1817T>A (n.*1817T>A)
c.1998T>A (p.Ser666=)
c.2049T>A (p.Ser683=)
n.2213T>A
c.1920T>A (p.Ser640=)
n.40T>A
5g.78116149_78116150insCTACTATCAGCA2578344412AP3B1c.*231_*232insGATAGTAGCT (n.*231_*232insGATAGTAGCT)
c.2055_2056insGATAGTAGCT (p.Ser686AspfsTer5)
c.1908_1909insGATAGTAGCT (p.Ser637AspfsTer5)
c.1254_1255insGATAGTAGCT (p.Ser419AspfsTer5)
c.*1817_*1818insGATAGTAGCT (n.*1817_*1818insGATAGTAGCT)
c.1998_1999insGATAGTAGCT (p.Ser667AspfsTer5)
c.2049_2050insGATAGTAGCT (p.Ser684AspfsTer5)
n.2213_2214insGATAGTAGCT
c.1920_1921insGATAGTAGCT (p.Ser641AspfsTer5)
n.40_41insGATAGTAGCT
5g.78116149G>ACA360185042AP3B1c.*230C>T (n.*230C>T)
c.2054C>T (p.Ser685Phe)
c.1907C>T (p.Ser636Phe)
c.1253C>T (p.Ser418Phe)
c.*1816C>T (n.*1816C>T)
c.1997C>T (p.Ser666Phe)
c.2048C>T (p.Ser683Phe)
n.2212C>T
c.1919C>T (p.Ser640Phe)
n.39C>T
 gnomAD v4
5g.78116149G>CCA360185044AP3B1c.*230C>G (n.*230C>G)
c.2054C>G (p.Ser685Cys)
c.1907C>G (p.Ser636Cys)
c.1253C>G (p.Ser418Cys)
c.*1816C>G (n.*1816C>G)
c.1997C>G (p.Ser666Cys)
c.2048C>G (p.Ser683Cys)
n.2212C>G
c.1919C>G (p.Ser640Cys)
n.39C>G
5g.78116149G>TCA360185047AP3B1c.*230C>A (n.*230C>A)
c.2054C>A (p.Ser685Tyr)
c.1907C>A (p.Ser636Tyr)
c.1253C>A (p.Ser418Tyr)
c.*1816C>A (n.*1816C>A)
c.1997C>A (p.Ser666Tyr)
c.2048C>A (p.Ser683Tyr)
n.2212C>A
c.1919C>A (p.Ser640Tyr)
n.39C>A
5g.78116150A>CCA360185050AP3B1c.*229T>G (n.*229T>G)
c.2053T>G (p.Ser685Ala)
c.1906T>G (p.Ser636Ala)
c.1252T>G (p.Ser418Ala)
c.*1815T>G (n.*1815T>G)
c.1996T>G (p.Ser666Ala)
c.2047T>G (p.Ser683Ala)
n.2211T>G
c.1918T>G (p.Ser640Ala)
n.38T>G
5g.78116150A>GCA360185052AP3B1c.*229T>C (n.*229T>C)
c.2053T>C (p.Ser685Pro)
c.1906T>C (p.Ser636Pro)
c.1252T>C (p.Ser418Pro)
c.*1815T>C (n.*1815T>C)
c.1996T>C (p.Ser666Pro)
c.2047T>C (p.Ser683Pro)
n.2211T>C
c.1918T>C (p.Ser640Pro)
n.38T>C
5g.78116150A>TCA360185053AP3B1c.*229T>A (n.*229T>A)
c.2053T>A (p.Ser685Thr)
c.1906T>A (p.Ser636Thr)
c.1252T>A (p.Ser418Thr)
c.*1815T>A (n.*1815T>A)
c.1996T>A (p.Ser666Thr)
c.2047T>A (p.Ser683Thr)
n.2211T>A
c.1918T>A (p.Ser640Thr)
n.38T>A
5g.78116151G>ACA445102772AP3B1c.*228C>T (n.*228C>T)
c.2052C>T (p.Asp684=)
c.1905C>T (p.Asp635=)
c.1251C>T (p.Asp417=)
c.*1814C>T (n.*1814C>T)
c.1995C>T (p.Asp665=)
c.2046C>T (p.Asp682=)
n.2210C>T
c.1917C>T (p.Asp639=)
n.37C>T
5g.78116151G>CCA360185056AP3B1c.*228C>G (n.*228C>G)
c.2052C>G (p.Asp684Glu)
c.1905C>G (p.Asp635Glu)
c.1251C>G (p.Asp417Glu)
c.*1814C>G (n.*1814C>G)
c.1995C>G (p.Asp665Glu)
c.2046C>G (p.Asp682Glu)
n.2210C>G
c.1917C>G (p.Asp639Glu)
n.37C>G
 dbSNP gnomAD v2 gnomAD v4
5g.78116151G=CA1557301332AP3B1c.*228C= (n.*228C=)
c.2052C= (p.Asp684=)
c.1905C= (p.Asp635=)
c.1251C= (p.Asp417=)
c.*1814C= (n.*1814C=)
c.1995C= (p.Asp665=)
c.2046C= (p.Asp682=)
n.2210C=
c.1917C= (p.Asp639=)
n.37C=
5g.78116151G>TCA360185055AP3B1c.*228C>A (n.*228C>A)
c.2052C>A (p.Asp684Glu)
c.1905C>A (p.Asp635Glu)
c.1251C>A (p.Asp417Glu)
c.*1814C>A (n.*1814C>A)
c.1995C>A (p.Asp665Glu)
c.2046C>A (p.Asp682Glu)
n.2210C>A
c.1917C>A (p.Asp639Glu)
n.37C>A
5g.78116152T>ACA360185057AP3B1c.*227A>T (n.*227A>T)
c.2051A>T (p.Asp684Val)
c.1904A>T (p.Asp635Val)
c.1250A>T (p.Asp417Val)
c.*1813A>T (n.*1813A>T)
c.1994A>T (p.Asp665Val)
c.2045A>T (p.Asp682Val)
n.2209A>T
c.1916A>T (p.Asp639Val)
n.36A>T
5g.78116152T>CCA360185059AP3B1c.*227A>G (n.*227A>G)
c.2051A>G (p.Asp684Gly)
c.1904A>G (p.Asp635Gly)
c.1250A>G (p.Asp417Gly)
c.*1813A>G (n.*1813A>G)
c.1994A>G (p.Asp665Gly)
c.2045A>G (p.Asp682Gly)
n.2209A>G
c.1916A>G (p.Asp639Gly)
n.36A>G
5g.78116152T>GCA360185061AP3B1c.*227A>C (n.*227A>C)
c.2051A>C (p.Asp684Ala)
c.1904A>C (p.Asp635Ala)
c.1250A>C (p.Asp417Ala)
c.*1813A>C (n.*1813A>C)
c.1994A>C (p.Asp665Ala)
c.2045A>C (p.Asp682Ala)
n.2209A>C
c.1916A>C (p.Asp639Ala)
n.36A>C
5g.78116153C>ACA360185063AP3B1c.*226G>T (n.*226G>T)
c.2050G>T (p.Asp684Tyr)
c.1903G>T (p.Asp635Tyr)
c.1249G>T (p.Asp417Tyr)
c.*1812G>T (n.*1812G>T)
c.1993G>T (p.Asp665Tyr)
c.2044G>T (p.Asp682Tyr)
n.2208G>T
c.1915G>T (p.Asp639Tyr)
n.35G>T
5g.78116153C>GCA360185066AP3B1c.*226G>C (n.*226G>C)
c.2050G>C (p.Asp684His)
c.1903G>C (p.Asp635His)
c.1249G>C (p.Asp417His)
c.*1812G>C (n.*1812G>C)
c.1993G>C (p.Asp665His)
c.2044G>C (p.Asp682His)
n.2208G>C
c.1915G>C (p.Asp639His)
n.35G>C
5g.78116153C>TCA360185068AP3B1c.*226G>A (n.*226G>A)
c.2050G>A (p.Asp684Asn)
c.1903G>A (p.Asp635Asn)
c.1249G>A (p.Asp417Asn)
c.*1812G>A (n.*1812G>A)
c.1993G>A (p.Asp665Asn)
c.2044G>A (p.Asp682Asn)
n.2208G>A
c.1915G>A (p.Asp639Asn)
n.35G>A
 gnomAD v4
5g.78116154C>ACA360185070AP3B1c.*225G>T (n.*225G>T)
c.2049G>T (p.Glu683Asp)
c.1902G>T (p.Glu634Asp)
c.1248G>T (p.Glu416Asp)
c.*1811G>T (n.*1811G>T)
c.1992G>T (p.Glu664Asp)
c.2043G>T (p.Glu681Asp)
n.2207G>T
c.1914G>T (p.Glu638Asp)
n.34G>T
5g.78116154C>GCA360185072AP3B1c.*225G>C (n.*225G>C)
c.2049G>C (p.Glu683Asp)
c.1902G>C (p.Glu634Asp)
c.1248G>C (p.Glu416Asp)
c.*1811G>C (n.*1811G>C)
c.1992G>C (p.Glu664Asp)
c.2043G>C (p.Glu681Asp)
n.2207G>C
c.1914G>C (p.Glu638Asp)
n.34G>C
5g.78116154C>TCA445102782AP3B1c.*225G>A (n.*225G>A)
c.2049G>A (p.Glu683=)
c.1902G>A (p.Glu634=)
c.1248G>A (p.Glu416=)
c.*1811G>A (n.*1811G>A)
c.1992G>A (p.Glu664=)
c.2043G>A (p.Glu681=)
n.2207G>A
c.1914G>A (p.Glu638=)
n.34G>A
 gnomAD v4
5g.78116155T>ACA3316883AP3B1c.*224A>T (n.*224A>T)
c.2048A>T (p.Glu683Val)
c.1901A>T (p.Glu634Val)
c.1247A>T (p.Glu416Val)
c.*1810A>T (n.*1810A>T)
c.1991A>T (p.Glu664Val)
c.2042A>T (p.Glu681Val)
n.2206A>T
c.1913A>T (p.Glu638Val)
n.33A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.78116155T>CCA360185075AP3B1c.*224A>G (n.*224A>G)
c.2048A>G (p.Glu683Gly)
c.1901A>G (p.Glu634Gly)
c.1247A>G (p.Glu416Gly)
c.*1810A>G (n.*1810A>G)
c.1991A>G (p.Glu664Gly)
c.2042A>G (p.Glu681Gly)
n.2206A>G
c.1913A>G (p.Glu638Gly)
n.33A>G
5g.78116155T>GCA360185077AP3B1c.*224A>C (n.*224A>C)
c.2048A>C (p.Glu683Ala)
c.1901A>C (p.Glu634Ala)
c.1247A>C (p.Glu416Ala)
c.*1810A>C (n.*1810A>C)
c.1991A>C (p.Glu664Ala)
c.2042A>C (p.Glu681Ala)
n.2206A>C
c.1913A>C (p.Glu638Ala)
n.33A>C
5g.78116155T=CA1557301337AP3B1c.*224A= (n.*224A=)
c.2048A= (p.Glu683=)
c.1901A= (p.Glu634=)
c.1247A= (p.Glu416=)
c.*1810A= (n.*1810A=)
c.1991A= (p.Glu664=)
c.2042A= (p.Glu681=)
n.2206A=
c.1913A= (p.Glu638=)
n.33A=
5g.78116156C>ACA360185083AP3B1c.*223G>T (n.*223G>T)
c.2047G>T (p.Glu683Ter)
c.1900G>T (p.Glu634Ter)
c.1246G>T (p.Glu416Ter)
c.*1809G>T (n.*1809G>T)
c.1990G>T (p.Glu664Ter)
c.2041G>T (p.Glu681Ter)
n.2205G>T
c.1912G>T (p.Glu638Ter)
n.32G>T
5g.78116156C>GCA360185081AP3B1c.*223G>C (n.*223G>C)
c.2047G>C (p.Glu683Gln)
c.1900G>C (p.Glu634Gln)
c.1246G>C (p.Glu416Gln)
c.*1809G>C (n.*1809G>C)
c.1990G>C (p.Glu664Gln)
c.2041G>C (p.Glu681Gln)
n.2205G>C
c.1912G>C (p.Glu638Gln)
n.32G>C
5g.78116156C>TCA360185079AP3B1c.*223G>A (n.*223G>A)
c.2047G>A (p.Glu683Lys)
c.1900G>A (p.Glu634Lys)
c.1246G>A (p.Glu416Lys)
c.*1809G>A (n.*1809G>A)
c.1990G>A (p.Glu664Lys)
c.2041G>A (p.Glu681Lys)
n.2205G>A
c.1912G>A (p.Glu638Lys)
n.32G>A
5g.78116157C>ACA360185086AP3B1c.*222G>T (n.*222G>T)
c.2046G>T (p.Glu682Asp)
c.1899G>T (p.Glu633Asp)
c.1245G>T (p.Glu415Asp)
c.*1808G>T (n.*1808G>T)
c.1989G>T (p.Glu663Asp)
c.2040G>T (p.Glu680Asp)
n.2204G>T
c.1911G>T (p.Glu637Asp)
n.31G>T
5g.78116157C>GCA360185087AP3B1c.*222G>C (n.*222G>C)
c.2046G>C (p.Glu682Asp)
c.1899G>C (p.Glu633Asp)
c.1245G>C (p.Glu415Asp)
c.*1808G>C (n.*1808G>C)
c.1989G>C (p.Glu663Asp)
c.2040G>C (p.Glu680Asp)
n.2204G>C
c.1911G>C (p.Glu637Asp)
n.31G>C
5g.78116157C>TCA445102790AP3B1c.*222G>A (n.*222G>A)
c.2046G>A (p.Glu682=)
c.1899G>A (p.Glu633=)
c.1245G>A (p.Glu415=)
c.*1808G>A (n.*1808G>A)
c.1989G>A (p.Glu663=)
c.2040G>A (p.Glu680=)
n.2204G>A
c.1911G>A (p.Glu637=)
n.31G>A
 gnomAD v4
5g.78116158T>ACA360185090AP3B1c.*221A>T (n.*221A>T)
c.2045A>T (p.Glu682Val)
c.1898A>T (p.Glu633Val)
c.1244A>T (p.Glu415Val)
c.*1807A>T (n.*1807A>T)
c.1988A>T (p.Glu663Val)
c.2039A>T (p.Glu680Val)
n.2203A>T
c.1910A>T (p.Glu637Val)
n.30A>T
5g.78116158T>CCA360185091AP3B1c.*221A>G (n.*221A>G)
c.2045A>G (p.Glu682Gly)
c.1898A>G (p.Glu633Gly)
c.1244A>G (p.Glu415Gly)
c.*1807A>G (n.*1807A>G)
c.1988A>G (p.Glu663Gly)
c.2039A>G (p.Glu680Gly)
n.2203A>G
c.1910A>G (p.Glu637Gly)
n.30A>G
5g.78116158T>GCA360185094AP3B1c.*221A>C (n.*221A>C)
c.2045A>C (p.Glu682Ala)
c.1898A>C (p.Glu633Ala)
c.1244A>C (p.Glu415Ala)
c.*1807A>C (n.*1807A>C)
c.1988A>C (p.Glu663Ala)
c.2039A>C (p.Glu680Ala)
n.2203A>C
c.1910A>C (p.Glu637Ala)
n.30A>C
5g.78116159C>ACA360185096AP3B1c.*220G>T (n.*220G>T)
c.2044G>T (p.Glu682Ter)
c.1897G>T (p.Glu633Ter)
c.1243G>T (p.Glu415Ter)
c.*1806G>T (n.*1806G>T)
c.1987G>T (p.Glu663Ter)
c.2038G>T (p.Glu680Ter)
n.2202G>T
c.1909G>T (p.Glu637Ter)
n.29G>T
 dbSNP gnomAD v3 gnomAD v4
5g.78116159C=CA1557301344AP3B1c.*220G= (n.*220G=)
c.2044G= (p.Glu682=)
c.1897G= (p.Glu633=)
c.1243G= (p.Glu415=)
c.*1806G= (n.*1806G=)
c.1987G= (p.Glu663=)
c.2038G= (p.Glu680=)
n.2202G=
c.1909G= (p.Glu637=)
n.29G=
5g.78116159C>GCA360185098AP3B1c.*220G>C (n.*220G>C)
c.2044G>C (p.Glu682Gln)
c.1897G>C (p.Glu633Gln)
c.1243G>C (p.Glu415Gln)
c.*1806G>C (n.*1806G>C)
c.1987G>C (p.Glu663Gln)
c.2038G>C (p.Glu680Gln)
n.2202G>C
c.1909G>C (p.Glu637Gln)
n.29G>C
5g.78116159C>TCA360185099AP3B1c.*220G>A (n.*220G>A)
c.2044G>A (p.Glu682Lys)
c.1897G>A (p.Glu633Lys)
c.1243G>A (p.Glu415Lys)
c.*1806G>A (n.*1806G>A)
c.1987G>A (p.Glu663Lys)
c.2038G>A (p.Glu680Lys)
n.2202G>A
c.1909G>A (p.Glu637Lys)
n.29G>A
5g.78116160T>ACA360185101AP3B1c.*219A>T (n.*219A>T)
c.2043A>T (p.Glu681Asp)
c.1896A>T (p.Glu632Asp)
c.1242A>T (p.Glu414Asp)
c.*1805A>T (n.*1805A>T)
c.1986A>T (p.Glu662Asp)
c.2037A>T (p.Glu679Asp)
n.2201A>T
c.1908A>T (p.Glu636Asp)
n.28A>T
5g.78116160T>CCA445102800AP3B1c.*219A>G (n.*219A>G)
c.2043A>G (p.Glu681=)
c.1896A>G (p.Glu632=)
c.1242A>G (p.Glu414=)
c.*1805A>G (n.*1805A>G)
c.1986A>G (p.Glu662=)
c.2037A>G (p.Glu679=)
n.2201A>G
c.1908A>G (p.Glu636=)
n.28A>G
5g.78116160T>GCA360185103AP3B1c.*219A>C (n.*219A>C)
c.2043A>C (p.Glu681Asp)
c.1896A>C (p.Glu632Asp)
c.1242A>C (p.Glu414Asp)
c.*1805A>C (n.*1805A>C)
c.1986A>C (p.Glu662Asp)
c.2037A>C (p.Glu679Asp)
n.2201A>C
c.1908A>C (p.Glu636Asp)
n.28A>C
5g.78116161T>ACA360185105AP3B1c.*218A>T (n.*218A>T)
c.2042A>T (p.Glu681Val)
c.1895A>T (p.Glu632Val)
c.1241A>T (p.Glu414Val)
c.*1804A>T (n.*1804A>T)
c.1985A>T (p.Glu662Val)
c.2036A>T (p.Glu679Val)
n.2200A>T
c.1907A>T (p.Glu636Val)
n.27A>T
5g.78116161T>CCA3316884AP3B1c.*218A>G (n.*218A>G)
c.2042A>G (p.Glu681Gly)
c.1895A>G (p.Glu632Gly)
c.1241A>G (p.Glu414Gly)
c.*1804A>G (n.*1804A>G)
c.1985A>G (p.Glu662Gly)
c.2036A>G (p.Glu679Gly)
n.2200A>G
c.1907A>G (p.Glu636Gly)
n.27A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116161T>GCA360185108AP3B1c.*218A>C (n.*218A>C)
c.2042A>C (p.Glu681Ala)
c.1895A>C (p.Glu632Ala)
c.1241A>C (p.Glu414Ala)
c.*1804A>C (n.*1804A>C)
c.1985A>C (p.Glu662Ala)
c.2036A>C (p.Glu679Ala)
n.2200A>C
c.1907A>C (p.Glu636Ala)
n.27A>C
5g.78116161T=CA1557301347AP3B1c.*218A= (n.*218A=)
c.2042A= (p.Glu681=)
c.1895A= (p.Glu632=)
c.1241A= (p.Glu414=)
c.*1804A= (n.*1804A=)
c.1985A= (p.Glu662=)
c.2036A= (p.Glu679=)
n.2200A=
c.1907A= (p.Glu636=)
n.27A=
5g.78116162C>ACA360185115AP3B1c.*217G>T (n.*217G>T)
c.2041G>T (p.Glu681Ter)
c.1894G>T (p.Glu632Ter)
c.1240G>T (p.Glu414Ter)
c.*1803G>T (n.*1803G>T)
c.1984G>T (p.Glu662Ter)
c.2035G>T (p.Glu679Ter)
n.2199G>T
c.1906G>T (p.Glu636Ter)
n.26G>T
5g.78116162C>GCA360185110AP3B1c.*217G>C (n.*217G>C)
c.2041G>C (p.Glu681Gln)
c.1894G>C (p.Glu632Gln)
c.1240G>C (p.Glu414Gln)
c.*1803G>C (n.*1803G>C)
c.1984G>C (p.Glu662Gln)
c.2035G>C (p.Glu679Gln)
n.2199G>C
c.1906G>C (p.Glu636Gln)
n.26G>C
5g.78116162C>TCA360185113AP3B1c.*217G>A (n.*217G>A)
c.2041G>A (p.Glu681Lys)
c.1894G>A (p.Glu632Lys)
c.1240G>A (p.Glu414Lys)
c.*1803G>A (n.*1803G>A)
c.1984G>A (p.Glu662Lys)
c.2035G>A (p.Glu679Lys)
n.2199G>A
c.1906G>A (p.Glu636Lys)
n.26G>A
5g.78116163C>ACA360185116AP3B1c.*216G>T (n.*216G>T)
c.2040G>T (p.Glu680Asp)
c.1893G>T (p.Glu631Asp)
c.1239G>T (p.Glu413Asp)
c.*1802G>T (n.*1802G>T)
c.1983G>T (p.Glu661Asp)
c.2034G>T (p.Glu678Asp)
n.2198G>T
c.1905G>T (p.Glu635Asp)
n.25G>T
5g.78116163C>GCA360185118AP3B1c.*216G>C (n.*216G>C)
c.2040G>C (p.Glu680Asp)
c.1893G>C (p.Glu631Asp)
c.1239G>C (p.Glu413Asp)
c.*1802G>C (n.*1802G>C)
c.1983G>C (p.Glu661Asp)
c.2034G>C (p.Glu678Asp)
n.2198G>C
c.1905G>C (p.Glu635Asp)
n.25G>C
5g.78116163C>TCA445102807AP3B1c.*216G>A (n.*216G>A)
c.2040G>A (p.Glu680=)
c.1893G>A (p.Glu631=)
c.1239G>A (p.Glu413=)
c.*1802G>A (n.*1802G>A)
c.1983G>A (p.Glu661=)
c.2034G>A (p.Glu678=)
n.2198G>A
c.1905G>A (p.Glu635=)
n.25G>A
5g.78116164T>ACA360185120AP3B1c.*215A>T (n.*215A>T)
c.2039A>T (p.Glu680Val)
c.1892A>T (p.Glu631Val)
c.1238A>T (p.Glu413Val)
c.*1801A>T (n.*1801A>T)
c.1982A>T (p.Glu661Val)
c.2033A>T (p.Glu678Val)
n.2197A>T
c.1904A>T (p.Glu635Val)
n.24A>T
5g.78116164T>CCA360185122AP3B1c.*215A>G (n.*215A>G)
c.2039A>G (p.Glu680Gly)
c.1892A>G (p.Glu631Gly)
c.1238A>G (p.Glu413Gly)
c.*1801A>G (n.*1801A>G)
c.1982A>G (p.Glu661Gly)
c.2033A>G (p.Glu678Gly)
n.2197A>G
c.1904A>G (p.Glu635Gly)
n.24A>G
5g.78116164T>GCA360185124AP3B1c.*215A>C (n.*215A>C)
c.2039A>C (p.Glu680Ala)
c.1892A>C (p.Glu631Ala)
c.1238A>C (p.Glu413Ala)
c.*1801A>C (n.*1801A>C)
c.1982A>C (p.Glu661Ala)
c.2033A>C (p.Glu678Ala)
n.2197A>C
c.1904A>C (p.Glu635Ala)
n.24A>C
5g.78116165C>ACA360185126AP3B1c.*214G>T (n.*214G>T)
c.2038G>T (p.Glu680Ter)
c.1891G>T (p.Glu631Ter)
c.1237G>T (p.Glu413Ter)
c.*1800G>T (n.*1800G>T)
c.1981G>T (p.Glu661Ter)
c.2032G>T (p.Glu678Ter)
n.2196G>T
c.1903G>T (p.Glu635Ter)
n.23G>T
5g.78116165C>GCA360185127AP3B1c.*214G>C (n.*214G>C)
c.2038G>C (p.Glu680Gln)
c.1891G>C (p.Glu631Gln)
c.1237G>C (p.Glu413Gln)
c.*1800G>C (n.*1800G>C)
c.1981G>C (p.Glu661Gln)
c.2032G>C (p.Glu678Gln)
n.2196G>C
c.1903G>C (p.Glu635Gln)
n.23G>C
 gnomAD v4
5g.78116165C>TCA360185129AP3B1c.*214G>A (n.*214G>A)
c.2038G>A (p.Glu680Lys)
c.1891G>A (p.Glu631Lys)
c.1237G>A (p.Glu413Lys)
c.*1800G>A (n.*1800G>A)
c.1981G>A (p.Glu661Lys)
c.2032G>A (p.Glu678Lys)
n.2196G>A
c.1903G>A (p.Glu635Lys)
n.23G>A
5g.78116166A>CCA445102812AP3B1c.*213T>G (n.*213T>G)
c.2037T>G (p.Ser679=)
c.1890T>G (p.Ser630=)
c.1236T>G (p.Ser412=)
c.*1799T>G (n.*1799T>G)
c.1980T>G (p.Ser660=)
c.2031T>G (p.Ser677=)
n.2195T>G
c.1902T>G (p.Ser634=)
n.22T>G
5g.78116166A>GCA445102817AP3B1c.*213T>C (n.*213T>C)
c.2037T>C (p.Ser679=)
c.1890T>C (p.Ser630=)
c.1236T>C (p.Ser412=)
c.*1799T>C (n.*1799T>C)
c.1980T>C (p.Ser660=)
c.2031T>C (p.Ser677=)
n.2195T>C
c.1902T>C (p.Ser634=)
n.22T>C
5g.78116166A>TCA445102819AP3B1c.*213T>A (n.*213T>A)
c.2037T>A (p.Ser679=)
c.1890T>A (p.Ser630=)
c.1236T>A (p.Ser412=)
c.*1799T>A (n.*1799T>A)
c.1980T>A (p.Ser660=)
c.2031T>A (p.Ser677=)
n.2195T>A
c.1902T>A (p.Ser634=)
n.22T>A
5g.78116167G>ACA360185131AP3B1c.*212C>T (n.*212C>T)
c.2036C>T (p.Ser679Phe)
c.1889C>T (p.Ser630Phe)
c.1235C>T (p.Ser412Phe)
c.*1798C>T (n.*1798C>T)
c.1979C>T (p.Ser660Phe)
c.2030C>T (p.Ser677Phe)
n.2194C>T
c.1901C>T (p.Ser634Phe)
n.21C>T
 dbSNP gnomAD v2 gnomAD v4
5g.78116167G>CCA360185133AP3B1c.*212C>G (n.*212C>G)
c.2036C>G (p.Ser679Cys)
c.1889C>G (p.Ser630Cys)
c.1235C>G (p.Ser412Cys)
c.*1798C>G (n.*1798C>G)
c.1979C>G (p.Ser660Cys)
c.2030C>G (p.Ser677Cys)
n.2194C>G
c.1901C>G (p.Ser634Cys)
n.21C>G
5g.78116167G=CA1557301352AP3B1c.*212C= (n.*212C=)
c.2036C= (p.Ser679=)
c.1889C= (p.Ser630=)
c.1235C= (p.Ser412=)
c.*1798C= (n.*1798C=)
c.1979C= (p.Ser660=)
c.2030C= (p.Ser677=)
n.2194C=
c.1901C= (p.Ser634=)
n.21C=
5g.78116167G>TCA360185135AP3B1c.*212C>A (n.*212C>A)
c.2036C>A (p.Ser679Tyr)
c.1889C>A (p.Ser630Tyr)
c.1235C>A (p.Ser412Tyr)
c.*1798C>A (n.*1798C>A)
c.1979C>A (p.Ser660Tyr)
c.2030C>A (p.Ser677Tyr)
n.2194C>A
c.1901C>A (p.Ser634Tyr)
n.21C>A
5g.78116168A=CA1557301356AP3B1c.*211T= (n.*211T=)
c.2035T= (p.Ser679=)
c.1888T= (p.Ser630=)
c.1234T= (p.Ser412=)
c.*1797T= (n.*1797T=)
c.1978T= (p.Ser660=)
c.2029T= (p.Ser677=)
n.2193T=
c.1900T= (p.Ser634=)
n.20T=
5g.78116168A>CCA360185140AP3B1c.*211T>G (n.*211T>G)
c.2035T>G (p.Ser679Ala)
c.1888T>G (p.Ser630Ala)
c.1234T>G (p.Ser412Ala)
c.*1797T>G (n.*1797T>G)
c.1978T>G (p.Ser660Ala)
c.2029T>G (p.Ser677Ala)
n.2193T>G
c.1900T>G (p.Ser634Ala)
n.20T>G
5g.78116168A>GCA3316885AP3B1c.*211T>C (n.*211T>C)
c.2035T>C (p.Ser679Pro)
c.1888T>C (p.Ser630Pro)
c.1234T>C (p.Ser412Pro)
c.*1797T>C (n.*1797T>C)
c.1978T>C (p.Ser660Pro)
c.2029T>C (p.Ser677Pro)
n.2193T>C
c.1900T>C (p.Ser634Pro)
n.20T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.78116168A>TCA360185137AP3B1c.*211T>A (n.*211T>A)
c.2035T>A (p.Ser679Thr)
c.1888T>A (p.Ser630Thr)
c.1234T>A (p.Ser412Thr)
c.*1797T>A (n.*1797T>A)
c.1978T>A (p.Ser660Thr)
c.2029T>A (p.Ser677Thr)
n.2193T>A
c.1900T>A (p.Ser634Thr)
n.20T>A
5g.78116169T>ACA360185144AP3B1c.*210A>T (n.*210A>T)
c.2034A>T (p.Glu678Asp)
c.1887A>T (p.Glu629Asp)
c.1233A>T (p.Glu411Asp)
c.*1796A>T (n.*1796A>T)
c.1977A>T (p.Glu659Asp)
c.2028A>T (p.Glu676Asp)
n.2192A>T
c.1899A>T (p.Glu633Asp)
n.19A>T
5g.78116169T>CCA3316886AP3B1c.*210A>G (n.*210A>G)
c.2034A>G (p.Glu678=)
c.1887A>G (p.Glu629=)
c.1233A>G (p.Glu411=)
c.*1796A>G (n.*1796A>G)
c.1977A>G (p.Glu659=)
c.2028A>G (p.Glu676=)
n.2192A>G
c.1899A>G (p.Glu633=)
n.19A>G
 ClinVar dbSNP ExAC gnomAD v2
5g.78116169T>GCA360185145AP3B1c.*210A>C (n.*210A>C)
c.2034A>C (p.Glu678Asp)
c.1887A>C (p.Glu629Asp)
c.1233A>C (p.Glu411Asp)
c.*1796A>C (n.*1796A>C)
c.1977A>C (p.Glu659Asp)
c.2028A>C (p.Glu676Asp)
n.2192A>C
c.1899A>C (p.Glu633Asp)
n.19A>C
5g.78116169T=CA1557301360AP3B1c.*210A= (n.*210A=)
c.2034A= (p.Glu678=)
c.1887A= (p.Glu629=)
c.1233A= (p.Glu411=)
c.*1796A= (n.*1796A=)
c.1977A= (p.Glu659=)
c.2028A= (p.Glu676=)
n.2192A=
c.1899A= (p.Glu633=)
n.19A=
5g.78116170T>ACA360185149AP3B1c.*209A>T (n.*209A>T)
c.2033A>T (p.Glu678Val)
c.1886A>T (p.Glu629Val)
c.1232A>T (p.Glu411Val)
c.*1795A>T (n.*1795A>T)
c.1976A>T (p.Glu659Val)
c.2027A>T (p.Glu676Val)
n.2191A>T
c.1898A>T (p.Glu633Val)
n.18A>T
5g.78116170T>CCA360185150AP3B1c.*209A>G (n.*209A>G)
c.2033A>G (p.Glu678Gly)
c.1886A>G (p.Glu629Gly)
c.1232A>G (p.Glu411Gly)
c.*1795A>G (n.*1795A>G)
c.1976A>G (p.Glu659Gly)
c.2027A>G (p.Glu676Gly)
n.2191A>G
c.1898A>G (p.Glu633Gly)
n.18A>G
 dbSNP gnomAD v4
5g.78116170T>GCA360185152AP3B1c.*209A>C (n.*209A>C)
c.2033A>C (p.Glu678Ala)
c.1886A>C (p.Glu629Ala)
c.1232A>C (p.Glu411Ala)
c.*1795A>C (n.*1795A>C)
c.1976A>C (p.Glu659Ala)
c.2027A>C (p.Glu676Ala)
n.2191A>C
c.1898A>C (p.Glu633Ala)
n.18A>C
5g.78116170T=CA1557301363AP3B1c.*209A= (n.*209A=)
c.2033A= (p.Glu678=)
c.1886A= (p.Glu629=)
c.1232A= (p.Glu411=)
c.*1795A= (n.*1795A=)
c.1976A= (p.Glu659=)
c.2027A= (p.Glu676=)
n.2191A=
c.1898A= (p.Glu633=)
n.18A=
5g.78116171C>ACA360185154AP3B1c.*208G>T (n.*208G>T)
c.2032G>T (p.Glu678Ter)
c.1885G>T (p.Glu629Ter)
c.1231G>T (p.Glu411Ter)
c.*1794G>T (n.*1794G>T)
c.1975G>T (p.Glu659Ter)
c.2026G>T (p.Glu676Ter)
n.2190G>T
c.1897G>T (p.Glu633Ter)
n.17G>T
5g.78116171C>GCA360185155AP3B1c.*208G>C (n.*208G>C)
c.2032G>C (p.Glu678Gln)
c.1885G>C (p.Glu629Gln)
c.1231G>C (p.Glu411Gln)
c.*1794G>C (n.*1794G>C)
c.1975G>C (p.Glu659Gln)
c.2026G>C (p.Glu676Gln)
n.2190G>C
c.1897G>C (p.Glu633Gln)
n.17G>C
5g.78116171C>TCA360185156AP3B1c.*208G>A (n.*208G>A)
c.2032G>A (p.Glu678Lys)
c.1885G>A (p.Glu629Lys)
c.1231G>A (p.Glu411Lys)
c.*1794G>A (n.*1794G>A)
c.1975G>A (p.Glu659Lys)
c.2026G>A (p.Glu676Lys)
n.2190G>A
c.1897G>A (p.Glu633Lys)
n.17G>A
5g.78116172A>CCA445102830AP3B1c.*207T>G (n.*207T>G)
c.2031T>G (p.Ser677=)
c.1884T>G (p.Ser628=)
c.1230T>G (p.Ser410=)
c.*1793T>G (n.*1793T>G)
c.1974T>G (p.Ser658=)
c.2025T>G (p.Ser675=)
n.2189T>G
c.1896T>G (p.Ser632=)
n.16T>G
5g.78116172A>GCA445102832AP3B1c.*207T>C (n.*207T>C)
c.2031T>C (p.Ser677=)
c.1884T>C (p.Ser628=)
c.1230T>C (p.Ser410=)
c.*1793T>C (n.*1793T>C)
c.1974T>C (p.Ser658=)
c.2025T>C (p.Ser675=)
n.2189T>C
c.1896T>C (p.Ser632=)
n.16T>C
5g.78116172A>TCA445102833AP3B1c.*207T>A (n.*207T>A)
c.2031T>A (p.Ser677=)
c.1884T>A (p.Ser628=)
c.1230T>A (p.Ser410=)
c.*1793T>A (n.*1793T>A)
c.1974T>A (p.Ser658=)
c.2025T>A (p.Ser675=)
n.2189T>A
c.1896T>A (p.Ser632=)
n.16T>A
5g.78116173G>ACA360185157AP3B1c.*206C>T (n.*206C>T)
c.2030C>T (p.Ser677Phe)
c.1883C>T (p.Ser628Phe)
c.1229C>T (p.Ser410Phe)
c.*1792C>T (n.*1792C>T)
c.1973C>T (p.Ser658Phe)
c.2024C>T (p.Ser675Phe)
n.2188C>T
c.1895C>T (p.Ser632Phe)
n.15C>T
5g.78116173G>CCA360185158AP3B1c.*206C>G (n.*206C>G)
c.2030C>G (p.Ser677Cys)
c.1883C>G (p.Ser628Cys)
c.1229C>G (p.Ser410Cys)
c.*1792C>G (n.*1792C>G)
c.1973C>G (p.Ser658Cys)
c.2024C>G (p.Ser675Cys)
n.2188C>G
c.1895C>G (p.Ser632Cys)
n.15C>G
5g.78116173G=CA1557301366AP3B1c.*206C= (n.*206C=)
c.2030C= (p.Ser677=)
c.1883C= (p.Ser628=)
c.1229C= (p.Ser410=)
c.*1792C= (n.*1792C=)
c.1973C= (p.Ser658=)
c.2024C= (p.Ser675=)
n.2188C=
c.1895C= (p.Ser632=)
n.15C=
5g.78116173G>TCA3316887AP3B1c.*206C>A (n.*206C>A)
c.2030C>A (p.Ser677Tyr)
c.1883C>A (p.Ser628Tyr)
c.1229C>A (p.Ser410Tyr)
c.*1792C>A (n.*1792C>A)
c.1973C>A (p.Ser658Tyr)
c.2024C>A (p.Ser675Tyr)
n.2188C>A
c.1895C>A (p.Ser632Tyr)
n.15C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116174A>CCA360185160AP3B1c.*205T>G (n.*205T>G)
c.2029T>G (p.Ser677Ala)
c.1882T>G (p.Ser628Ala)
c.1228T>G (p.Ser410Ala)
c.*1791T>G (n.*1791T>G)
c.1972T>G (p.Ser658Ala)
c.2023T>G (p.Ser675Ala)
n.2187T>G
c.1894T>G (p.Ser632Ala)
n.14T>G
5g.78116174A>GCA360185162AP3B1c.*205T>C (n.*205T>C)
c.2029T>C (p.Ser677Pro)
c.1882T>C (p.Ser628Pro)
c.1228T>C (p.Ser410Pro)
c.*1791T>C (n.*1791T>C)
c.1972T>C (p.Ser658Pro)
c.2023T>C (p.Ser675Pro)
n.2187T>C
c.1894T>C (p.Ser632Pro)
n.14T>C
 gnomAD v4
5g.78116174A>TCA360185164AP3B1c.*205T>A (n.*205T>A)
c.2029T>A (p.Ser677Thr)
c.1882T>A (p.Ser628Thr)
c.1228T>A (p.Ser410Thr)
c.*1791T>A (n.*1791T>A)
c.1972T>A (p.Ser658Thr)
c.2023T>A (p.Ser675Thr)
n.2187T>A
c.1894T>A (p.Ser632Thr)
n.14T>A
5g.78116175A>CCA360185167AP3B1c.*204T>G (n.*204T>G)
c.2028T>G (p.Tyr676Ter)
c.1881T>G (p.Tyr627Ter)
c.1227T>G (p.Tyr409Ter)
c.*1790T>G (n.*1790T>G)
c.1971T>G (p.Tyr657Ter)
c.2022T>G (p.Tyr674Ter)
n.2186T>G
c.1893T>G (p.Tyr631Ter)
n.13T>G
5g.78116175A>GCA445102840AP3B1c.*204T>C (n.*204T>C)
c.2028T>C (p.Tyr676=)
c.1881T>C (p.Tyr627=)
c.1227T>C (p.Tyr409=)
c.*1790T>C (n.*1790T>C)
c.1971T>C (p.Tyr657=)
c.2022T>C (p.Tyr674=)
n.2186T>C
c.1893T>C (p.Tyr631=)
n.13T>C
5g.78116175A>TCA360185168AP3B1c.*204T>A (n.*204T>A)
c.2028T>A (p.Tyr676Ter)
c.1881T>A (p.Tyr627Ter)
c.1227T>A (p.Tyr409Ter)
c.*1790T>A (n.*1790T>A)
c.1971T>A (p.Tyr657Ter)
c.2022T>A (p.Tyr674Ter)
n.2186T>A
c.1893T>A (p.Tyr631Ter)
n.13T>A
5g.78116176T>ACA360185170AP3B1c.*203A>T (n.*203A>T)
c.2027A>T (p.Tyr676Phe)
c.1880A>T (p.Tyr627Phe)
c.1226A>T (p.Tyr409Phe)
c.*1789A>T (n.*1789A>T)
c.1970A>T (p.Tyr657Phe)
c.2021A>T (p.Tyr674Phe)
n.2185A>T
c.1892A>T (p.Tyr631Phe)
n.12A>T
5g.78116176T>CCA3316888AP3B1c.*203A>G (n.*203A>G)
c.2027A>G (p.Tyr676Cys)
c.1880A>G (p.Tyr627Cys)
c.1226A>G (p.Tyr409Cys)
c.*1789A>G (n.*1789A>G)
c.1970A>G (p.Tyr657Cys)
c.2021A>G (p.Tyr674Cys)
n.2185A>G
c.1892A>G (p.Tyr631Cys)
n.12A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.78116176T>GCA360185172AP3B1c.*203A>C (n.*203A>C)
c.2027A>C (p.Tyr676Ser)
c.1880A>C (p.Tyr627Ser)
c.1226A>C (p.Tyr409Ser)
c.*1789A>C (n.*1789A>C)
c.1970A>C (p.Tyr657Ser)
c.2021A>C (p.Tyr674Ser)
n.2185A>C
c.1892A>C (p.Tyr631Ser)
n.12A>C
5g.78116176T=CA1557301375AP3B1c.*203A= (n.*203A=)
c.2027A= (p.Tyr676=)
c.1880A= (p.Tyr627=)
c.1226A= (p.Tyr409=)
c.*1789A= (n.*1789A=)
c.1970A= (p.Tyr657=)
c.2021A= (p.Tyr674=)
n.2185A=
c.1892A= (p.Tyr631=)
n.12A=
5g.78116177A>CCA360185173AP3B1c.*202T>G (n.*202T>G)
c.2026T>G (p.Tyr676Asp)
c.1879T>G (p.Tyr627Asp)
c.1225T>G (p.Tyr409Asp)
c.*1788T>G (n.*1788T>G)
c.1969T>G (p.Tyr657Asp)
c.2020T>G (p.Tyr674Asp)
n.2184T>G
c.1891T>G (p.Tyr631Asp)
n.11T>G
5g.78116177A>GCA360185174AP3B1c.*202T>C (n.*202T>C)
c.2026T>C (p.Tyr676His)
c.1879T>C (p.Tyr627His)
c.1225T>C (p.Tyr409His)
c.*1788T>C (n.*1788T>C)
c.1969T>C (p.Tyr657His)
c.2020T>C (p.Tyr674His)
n.2184T>C
c.1891T>C (p.Tyr631His)
n.11T>C
 gnomAD v4
5g.78116177A>TCA360185175AP3B1c.*202T>A (n.*202T>A)
c.2026T>A (p.Tyr676Asn)
c.1879T>A (p.Tyr627Asn)
c.1225T>A (p.Tyr409Asn)
c.*1788T>A (n.*1788T>A)
c.1969T>A (p.Tyr657Asn)
c.2020T>A (p.Tyr674Asn)
n.2184T>A
c.1891T>A (p.Tyr631Asn)
n.11T>A
5g.78116178A=CA1557301377AP3B1c.*201T= (n.*201T=)
c.2025T= (p.Phe675=)
c.1878T= (p.Phe626=)
c.1224T= (p.Phe408=)
c.*1787T= (n.*1787T=)
c.1968T= (p.Phe656=)
c.2019T= (p.Phe673=)
n.2183T=
c.1890T= (p.Phe630=)
n.10T=
5g.78116178A>CCA360185178AP3B1c.*201T>G (n.*201T>G)
c.2025T>G (p.Phe675Leu)
c.1878T>G (p.Phe626Leu)
c.1224T>G (p.Phe408Leu)
c.*1787T>G (n.*1787T>G)
c.1968T>G (p.Phe656Leu)
c.2019T>G (p.Phe673Leu)
n.2183T>G
c.1890T>G (p.Phe630Leu)
n.10T>G
5g.78116178A>GCA3316889AP3B1c.*201T>C (n.*201T>C)
c.2025T>C (p.Phe675=)
c.1878T>C (p.Phe626=)
c.1224T>C (p.Phe408=)
c.*1787T>C (n.*1787T>C)
c.1968T>C (p.Phe656=)
c.2019T>C (p.Phe673=)
n.2183T>C
c.1890T>C (p.Phe630=)
n.10T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116178A>TCA360185181AP3B1c.*201T>A (n.*201T>A)
c.2025T>A (p.Phe675Leu)
c.1878T>A (p.Phe626Leu)
c.1224T>A (p.Phe408Leu)
c.*1787T>A (n.*1787T>A)
c.1968T>A (p.Phe656Leu)
c.2019T>A (p.Phe673Leu)
n.2183T>A
c.1890T>A (p.Phe630Leu)
n.10T>A
5g.78116179A>CCA360185183AP3B1c.*200T>G (n.*200T>G)
c.2024T>G (p.Phe675Cys)
c.1877T>G (p.Phe626Cys)
c.1223T>G (p.Phe408Cys)
c.*1786T>G (n.*1786T>G)
c.1967T>G (p.Phe656Cys)
c.2018T>G (p.Phe673Cys)
n.2182T>G
c.1889T>G (p.Phe630Cys)
n.9T>G
5g.78116179A>GCA360185184AP3B1c.*200T>C (n.*200T>C)
c.2024T>C (p.Phe675Ser)
c.1877T>C (p.Phe626Ser)
c.1223T>C (p.Phe408Ser)
c.*1786T>C (n.*1786T>C)
c.1967T>C (p.Phe656Ser)
c.2018T>C (p.Phe673Ser)
n.2182T>C
c.1889T>C (p.Phe630Ser)
n.9T>C
5g.78116179A>TCA360185186AP3B1c.*200T>A (n.*200T>A)
c.2024T>A (p.Phe675Tyr)
c.1877T>A (p.Phe626Tyr)
c.1223T>A (p.Phe408Tyr)
c.*1786T>A (n.*1786T>A)
c.1967T>A (p.Phe656Tyr)
c.2018T>A (p.Phe673Tyr)
n.2182T>A
c.1889T>A (p.Phe630Tyr)
n.9T>A
5g.78116180A=CA1557301380AP3B1c.*199T= (n.*199T=)
c.2023T= (p.Phe675=)
c.1876T= (p.Phe626=)
c.1222T= (p.Phe408=)
c.*1785T= (n.*1785T=)
c.1966T= (p.Phe656=)
c.2017T= (p.Phe673=)
n.2181T=
c.1888T= (p.Phe630=)
n.8T=
5g.78116180A>CCA360185189AP3B1c.*199T>G (n.*199T>G)
c.2023T>G (p.Phe675Val)
c.1876T>G (p.Phe626Val)
c.1222T>G (p.Phe408Val)
c.*1785T>G (n.*1785T>G)
c.1966T>G (p.Phe656Val)
c.2017T>G (p.Phe673Val)
n.2181T>G
c.1888T>G (p.Phe630Val)
n.8T>G
5g.78116180A>GCA360185193AP3B1c.*199T>C (n.*199T>C)
c.2023T>C (p.Phe675Leu)
c.1876T>C (p.Phe626Leu)
c.1222T>C (p.Phe408Leu)
c.*1785T>C (n.*1785T>C)
c.1966T>C (p.Phe656Leu)
c.2017T>C (p.Phe673Leu)
n.2181T>C
c.1888T>C (p.Phe630Leu)
n.8T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.78116180A>TCA360185190AP3B1c.*199T>A (n.*199T>A)
c.2023T>A (p.Phe675Ile)
c.1876T>A (p.Phe626Ile)
c.1222T>A (p.Phe408Ile)
c.*1785T>A (n.*1785T>A)
c.1966T>A (p.Phe656Ile)
c.2017T>A (p.Phe673Ile)
n.2181T>A
c.1888T>A (p.Phe630Ile)
n.8T>A
5g.78116181C>ACA360185196AP3B1c.*198G>T (n.*198G>T)
c.2022G>T (p.Lys674Asn)
c.1875G>T (p.Lys625Asn)
c.1221G>T (p.Lys407Asn)
c.*1784G>T (n.*1784G>T)
c.1965G>T (p.Lys655Asn)
c.2016G>T (p.Lys672Asn)
n.2180G>T
c.1887G>T (p.Lys629Asn)
n.7G>T
5g.78116181C=CA1557301384AP3B1c.*198G= (n.*198G=)
c.2022G= (p.Lys674=)
c.1875G= (p.Lys625=)
c.1221G= (p.Lys407=)
c.*1784G= (n.*1784G=)
c.1965G= (p.Lys655=)
c.2016G= (p.Lys672=)
n.2180G=
c.1887G= (p.Lys629=)
n.7G=
5g.78116181C>GCA360185198AP3B1c.*198G>C (n.*198G>C)
c.2022G>C (p.Lys674Asn)
c.1875G>C (p.Lys625Asn)
c.1221G>C (p.Lys407Asn)
c.*1784G>C (n.*1784G>C)
c.1965G>C (p.Lys655Asn)
c.2016G>C (p.Lys672Asn)
n.2180G>C
c.1887G>C (p.Lys629Asn)
n.7G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.78116181C>TCA3316890AP3B1c.*198G>A (n.*198G>A)
c.2022G>A (p.Lys674=)
c.1875G>A (p.Lys625=)
c.1221G>A (p.Lys407=)
c.*1784G>A (n.*1784G>A)
c.1965G>A (p.Lys655=)
c.2016G>A (p.Lys672=)
n.2180G>A
c.1887G>A (p.Lys629=)
n.7G>A
 dbSNP ExAC gnomAD v2
5g.78116184_78116186delCA2674353061AP3B1c.*196_*198del (n.*196_*198del)
c.2020_2022del (p.Lys674del)
c.1873_1875del (p.Lys625del)
c.1219_1221del (p.Lys407del)
c.*1782_*1784del (n.*1782_*1784del)
c.1963_1965del (p.Lys655del)
c.2014_2016del (p.Lys672del)
n.2178_2180del
c.1885_1887del (p.Lys629del)
n.5_7del
 gnomAD v4
5g.78116182T>ACA360185200AP3B1c.*197A>T (n.*197A>T)
c.2021A>T (p.Lys674Met)
c.1874A>T (p.Lys625Met)
c.1220A>T (p.Lys407Met)
c.*1783A>T (n.*1783A>T)
c.1964A>T (p.Lys655Met)
c.2015A>T (p.Lys672Met)
n.2179A>T
c.1886A>T (p.Lys629Met)
n.6A>T
5g.78116182T>CCA360185202AP3B1c.*197A>G (n.*197A>G)
c.2021A>G (p.Lys674Arg)
c.1874A>G (p.Lys625Arg)
c.1220A>G (p.Lys407Arg)
c.*1783A>G (n.*1783A>G)
c.1964A>G (p.Lys655Arg)
c.2015A>G (p.Lys672Arg)
n.2179A>G
c.1886A>G (p.Lys629Arg)
n.6A>G
 dbSNP gnomAD v3 gnomAD v4
5g.78116182T>GCA360185204AP3B1c.*197A>C (n.*197A>C)
c.2021A>C (p.Lys674Thr)
c.1874A>C (p.Lys625Thr)
c.1220A>C (p.Lys407Thr)
c.*1783A>C (n.*1783A>C)
c.1964A>C (p.Lys655Thr)
c.2015A>C (p.Lys672Thr)
n.2179A>C
c.1886A>C (p.Lys629Thr)
n.6A>C
 dbSNP
5g.78116182T=CA1557301387AP3B1c.*197A= (n.*197A=)
c.2021A= (p.Lys674=)
c.1874A= (p.Lys625=)
c.1220A= (p.Lys407=)
c.*1783A= (n.*1783A=)
c.1964A= (p.Lys655=)
c.2015A= (p.Lys672=)
n.2179A=
c.1886A= (p.Lys629=)
n.6A=
5g.78116183T>ACA360185207AP3B1c.*196A>T (n.*196A>T)
c.2020A>T (p.Lys674Ter)
c.1873A>T (p.Lys625Ter)
c.1219A>T (p.Lys407Ter)
c.*1782A>T (n.*1782A>T)
c.1963A>T (p.Lys655Ter)
c.2014A>T (p.Lys672Ter)
n.2178A>T
c.1885A>T (p.Lys629Ter)
n.5A>T
5g.78116183T>CCA3316891AP3B1c.*196A>G (n.*196A>G)
c.2020A>G (p.Lys674Glu)
c.1873A>G (p.Lys625Glu)
c.1219A>G (p.Lys407Glu)
c.*1782A>G (n.*1782A>G)
c.1963A>G (p.Lys655Glu)
c.2014A>G (p.Lys672Glu)
n.2178A>G
c.1885A>G (p.Lys629Glu)
n.5A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116183T>GCA360185209AP3B1c.*196A>C (n.*196A>C)
c.2020A>C (p.Lys674Gln)
c.1873A>C (p.Lys625Gln)
c.1219A>C (p.Lys407Gln)
c.*1782A>C (n.*1782A>C)
c.1963A>C (p.Lys655Gln)
c.2014A>C (p.Lys672Gln)
n.2178A>C
c.1885A>C (p.Lys629Gln)
n.5A>C
5g.78116183T=CA1557301392AP3B1c.*196A= (n.*196A=)
c.2020A= (p.Lys674=)
c.1873A= (p.Lys625=)
c.1219A= (p.Lys407=)
c.*1782A= (n.*1782A=)
c.1963A= (p.Lys655=)
c.2014A= (p.Lys672=)
n.2178A=
c.1885A= (p.Lys629=)
n.5A=
5g.78116184C>ACA360185211AP3B1c.*195G>T (n.*195G>T)
c.2019G>T (p.Lys673Asn)
c.1872G>T (p.Lys624Asn)
c.1218G>T (p.Lys406Asn)
c.*1781G>T (n.*1781G>T)
c.1962G>T (p.Lys654Asn)
c.2013G>T (p.Lys671Asn)
n.2177G>T
c.1884G>T (p.Lys628Asn)
n.4G>T
5g.78116184C>GCA360185212AP3B1c.*195G>C (n.*195G>C)
c.2019G>C (p.Lys673Asn)
c.1872G>C (p.Lys624Asn)
c.1218G>C (p.Lys406Asn)
c.*1781G>C (n.*1781G>C)
c.1962G>C (p.Lys654Asn)
c.2013G>C (p.Lys671Asn)
n.2177G>C
c.1884G>C (p.Lys628Asn)
n.4G>C
 COSMIC
5g.78116184C>TCA445102862AP3B1c.*195G>A (n.*195G>A)
c.2019G>A (p.Lys673=)
c.1872G>A (p.Lys624=)
c.1218G>A (p.Lys406=)
c.*1781G>A (n.*1781G>A)
c.1962G>A (p.Lys654=)
c.2013G>A (p.Lys671=)
n.2177G>A
c.1884G>A (p.Lys628=)
n.4G>A
5g.78116184_78116185delinsCTCA1557301396AP3B1c.*194_*195delinsAG (n.*194_*195delinsAG)
c.2018_2019delinsAG (p.Lys673=)
c.1871_1872delinsAG (p.Lys624=)
c.1217_1218delinsAG (p.Lys406=)
c.*1780_*1781delinsAG (n.*1780_*1781delinsAG)
c.1961_1962delinsAG (p.Lys654=)
c.2012_2013delinsAG (p.Lys671=)
n.2176_2177delinsAG
c.1883_1884delinsAG (p.Lys628=)
n.3_4delinsAG
5g.78116185T>ACA360185223AP3B1c.*194A>T (n.*194A>T)
c.2018A>T (p.Lys673Met)
c.1871A>T (p.Lys624Met)
c.1217A>T (p.Lys406Met)
c.*1780A>T (n.*1780A>T)
c.1961A>T (p.Lys654Met)
c.2012A>T (p.Lys671Met)
n.2176A>T
c.1883A>T (p.Lys628Met)
n.3A>T
5g.78116185T>CCA3316892AP3B1c.*194A>G (n.*194A>G)
c.2018A>G (p.Lys673Arg)
c.1871A>G (p.Lys624Arg)
c.1217A>G (p.Lys406Arg)
c.*1780A>G (n.*1780A>G)
c.1961A>G (p.Lys654Arg)
c.2012A>G (p.Lys671Arg)
n.2176A>G
c.1883A>G (p.Lys628Arg)
n.3A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116185T>GCA360185214AP3B1c.*194A>C (n.*194A>C)
c.2018A>C (p.Lys673Thr)
c.1871A>C (p.Lys624Thr)
c.1217A>C (p.Lys406Thr)
c.*1780A>C (n.*1780A>C)
c.1961A>C (p.Lys654Thr)
c.2012A>C (p.Lys671Thr)
n.2176A>C
c.1883A>C (p.Lys628Thr)
n.3A>C
5g.78116185T=CA1557301403AP3B1c.*194A= (n.*194A=)
c.2018A= (p.Lys673=)
c.1871A= (p.Lys624=)
c.1217A= (p.Lys406=)
c.*1780A= (n.*1780A=)
c.1961A= (p.Lys654=)
c.2012A= (p.Lys671=)
n.2176A=
c.1883A= (p.Lys628=)
n.3A=
5g.78116186delCA560500122AP3B1c.*194del (n.*194del)
c.2018del (p.Lys673ArgfsTer?)
c.1871del (p.Lys624ArgfsTer?)
c.1217del (p.Lys406ArgfsTer?)
c.*1780del (n.*1780del)
c.1961del (p.Lys654ArgfsTer?)
c.2012del (p.Lys671ArgfsTer?)
n.2176del
c.1883del (p.Lys628ArgfsTer?)
n.3del
 dbSNP gnomAD v2
5g.78116186T>ACA360185225AP3B1c.*193A>T (n.*193A>T)
c.2017A>T (p.Lys673Ter)
c.1870A>T (p.Lys624Ter)
c.1216A>T (p.Lys406Ter)
c.*1779A>T (n.*1779A>T)
c.1960A>T (p.Lys654Ter)
c.2011A>T (p.Lys671Ter)
n.2175A>T
c.1882A>T (p.Lys628Ter)
n.2A>T
5g.78116186T>CCA121083643AP3B1c.*193A>G (n.*193A>G)
c.2017A>G (p.Lys673Glu)
c.1870A>G (p.Lys624Glu)
c.1216A>G (p.Lys406Glu)
c.*1779A>G (n.*1779A>G)
c.1960A>G (p.Lys654Glu)
c.2011A>G (p.Lys671Glu)
n.2175A>G
c.1882A>G (p.Lys628Glu)
n.2A>G
 dbSNP gnomAD v4
5g.78116186T>GCA360185228AP3B1c.*193A>C (n.*193A>C)
c.2017A>C (p.Lys673Gln)
c.1870A>C (p.Lys624Gln)
c.1216A>C (p.Lys406Gln)
c.*1779A>C (n.*1779A>C)
c.1960A>C (p.Lys654Gln)
c.2011A>C (p.Lys671Gln)
n.2175A>C
c.1882A>C (p.Lys628Gln)
n.2A>C
5g.78116186T=CA1557301408AP3B1c.*193A= (n.*193A=)
c.2017A= (p.Lys673=)
c.1870A= (p.Lys624=)
c.1216A= (p.Lys406=)
c.*1779A= (n.*1779A=)
c.1960A= (p.Lys654=)
c.2011A= (p.Lys671=)
n.2175A=
c.1882A= (p.Lys628=)
n.2A=
5g.78116187A=CA1557301410AP3B1c.*192T= (n.*192T=)
c.2016T= (p.Ala672=)
c.1869T= (p.Ala623=)
c.1215T= (p.Ala405=)
c.*1778T= (n.*1778T=)
c.1959T= (p.Ala653=)
c.2010T= (p.Ala670=)
n.2174T=
c.1881T= (p.Ala627=)
n.1T=
5g.78116187A>CCA445102870AP3B1c.*192T>G (n.*192T>G)
c.2016T>G (p.Ala672=)
c.1869T>G (p.Ala623=)
c.1215T>G (p.Ala405=)
c.*1778T>G (n.*1778T>G)
c.1959T>G (p.Ala653=)
c.2010T>G (p.Ala670=)
n.2174T>G
c.1881T>G (p.Ala627=)
n.1T>G
5g.78116187A>GCA175256AP3B1c.*192T>C (n.*192T>C)
c.2016T>C (p.Ala672=)
c.1869T>C (p.Ala623=)
c.1215T>C (p.Ala405=)
c.*1778T>C (n.*1778T>C)
c.1959T>C (p.Ala653=)
c.2010T>C (p.Ala670=)
n.2174T>C
c.1881T>C (p.Ala627=)
n.1T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116187A>TCA445102872AP3B1c.*192T>A (n.*192T>A)
c.2016T>A (p.Ala672=)
c.1869T>A (p.Ala623=)
c.1215T>A (p.Ala405=)
c.*1778T>A (n.*1778T>A)
c.1959T>A (p.Ala653=)
c.2010T>A (p.Ala670=)
n.2174T>A
c.1881T>A (p.Ala627=)
n.1T>A
 gnomAD v4
5g.78116188G>ACA360185232AP3B1c.*191C>T (n.*191C>T)
c.2015C>T (p.Ala672Val)
c.1868C>T (p.Ala623Val)
c.1214C>T (p.Ala405Val)
c.*1777C>T (n.*1777C>T)
c.1958C>T (p.Ala653Val)
c.2009C>T (p.Ala670Val)
n.2173C>T
c.1880C>T (p.Ala627Val)
5g.78116188G>CCA360185234AP3B1c.*191C>G (n.*191C>G)
c.2015C>G (p.Ala672Gly)
c.1868C>G (p.Ala623Gly)
c.1214C>G (p.Ala405Gly)
c.*1777C>G (n.*1777C>G)
c.1958C>G (p.Ala653Gly)
c.2009C>G (p.Ala670Gly)
n.2173C>G
c.1880C>G (p.Ala627Gly)
 ClinVar dbSNP
5g.78116188G>TCA360185236AP3B1c.*191C>A (n.*191C>A)
c.2015C>A (p.Ala672Asp)
c.1868C>A (p.Ala623Asp)
c.1214C>A (p.Ala405Asp)
c.*1777C>A (n.*1777C>A)
c.1958C>A (p.Ala653Asp)
c.2009C>A (p.Ala670Asp)
n.2173C>A
c.1880C>A (p.Ala627Asp)
5g.78116189C>ACA360185238AP3B1c.*190G>T (n.*190G>T)
c.2014G>T (p.Ala672Ser)
c.1867G>T (p.Ala623Ser)
c.1213G>T (p.Ala405Ser)
c.*1776G>T (n.*1776G>T)
c.1957G>T (p.Ala653Ser)
c.2008G>T (p.Ala670Ser)
n.2172G>T
c.1879G>T (p.Ala627Ser)
5g.78116189C=CA1557301416AP3B1c.*190G= (n.*190G=)
c.2014G= (p.Ala672=)
c.1867G= (p.Ala623=)
c.1213G= (p.Ala405=)
c.*1776G= (n.*1776G=)
c.1957G= (p.Ala653=)
c.2008G= (p.Ala670=)
n.2172G=
c.1879G= (p.Ala627=)
5g.78116189C>GCA360185240AP3B1c.*190G>C (n.*190G>C)
c.2014G>C (p.Ala672Pro)
c.1867G>C (p.Ala623Pro)
c.1213G>C (p.Ala405Pro)
c.*1776G>C (n.*1776G>C)
c.1957G>C (p.Ala653Pro)
c.2008G>C (p.Ala670Pro)
n.2172G>C
c.1879G>C (p.Ala627Pro)
5g.78116189C>TCA360185241AP3B1c.*190G>A (n.*190G>A)
c.2014G>A (p.Ala672Thr)
c.1867G>A (p.Ala623Thr)
c.1213G>A (p.Ala405Thr)
c.*1776G>A (n.*1776G>A)
c.1957G>A (p.Ala653Thr)
c.2008G>A (p.Ala670Thr)
n.2172G>A
c.1879G>A (p.Ala627Thr)
 dbSNP
5g.78116190A>CCA445102880AP3B1c.*189T>G (n.*189T>G)
c.2013T>G (p.Ser671=)
c.1866T>G (p.Ser622=)
c.1212T>G (p.Ser404=)
c.*1775T>G (n.*1775T>G)
c.1956T>G (p.Ser652=)
c.2007T>G (p.Ser669=)
n.2171T>G
c.1878T>G (p.Ser626=)
5g.78116190A>GCA445102881AP3B1c.*189T>C (n.*189T>C)
c.2013T>C (p.Ser671=)
c.1866T>C (p.Ser622=)
c.1212T>C (p.Ser404=)
c.*1775T>C (n.*1775T>C)
c.1956T>C (p.Ser652=)
c.2007T>C (p.Ser669=)
n.2171T>C
c.1878T>C (p.Ser626=)
5g.78116190A>TCA445102882AP3B1c.*189T>A (n.*189T>A)
c.2013T>A (p.Ser671=)
c.1866T>A (p.Ser622=)
c.1212T>A (p.Ser404=)
c.*1775T>A (n.*1775T>A)
c.1956T>A (p.Ser652=)
c.2007T>A (p.Ser669=)
n.2171T>A
c.1878T>A (p.Ser626=)
5g.78116191G>ACA10625047AP3B1c.*188C>T (n.*188C>T)
c.2012C>T (p.Ser671Phe)
c.1865C>T (p.Ser622Phe)
c.1211C>T (p.Ser404Phe)
c.*1774C>T (n.*1774C>T)
c.1955C>T (p.Ser652Phe)
c.2006C>T (p.Ser669Phe)
n.2170C>T
c.1877C>T (p.Ser626Phe)
 ClinVar dbSNP COSMIC
5g.78116191G>CCA360185245AP3B1c.*188C>G (n.*188C>G)
c.2012C>G (p.Ser671Cys)
c.1865C>G (p.Ser622Cys)
c.1211C>G (p.Ser404Cys)
c.*1774C>G (n.*1774C>G)
c.1955C>G (p.Ser652Cys)
c.2006C>G (p.Ser669Cys)
n.2170C>G
c.1877C>G (p.Ser626Cys)
 gnomAD v4
5g.78116191G=CA1557301423AP3B1c.*188C= (n.*188C=)
c.2012C= (p.Ser671=)
c.1865C= (p.Ser622=)
c.1211C= (p.Ser404=)
c.*1774C= (n.*1774C=)
c.1955C= (p.Ser652=)
c.2006C= (p.Ser669=)
n.2170C=
c.1877C= (p.Ser626=)
5g.78116191G>TCA360185246AP3B1c.*188C>A (n.*188C>A)
c.2012C>A (p.Ser671Tyr)
c.1865C>A (p.Ser622Tyr)
c.1211C>A (p.Ser404Tyr)
c.*1774C>A (n.*1774C>A)
c.1955C>A (p.Ser652Tyr)
c.2006C>A (p.Ser669Tyr)
n.2170C>A
c.1877C>A (p.Ser626Tyr)
5g.78116192A>CCA360185252AP3B1c.*187T>G (n.*187T>G)
c.2011T>G (p.Ser671Ala)
c.1864T>G (p.Ser622Ala)
c.1210T>G (p.Ser404Ala)
c.*1773T>G (n.*1773T>G)
c.1954T>G (p.Ser652Ala)
c.2005T>G (p.Ser669Ala)
n.2169T>G
c.1876T>G (p.Ser626Ala)
5g.78116192A>GCA360185254AP3B1c.*187T>C (n.*187T>C)
c.2011T>C (p.Ser671Pro)
c.1864T>C (p.Ser622Pro)
c.1210T>C (p.Ser404Pro)
c.*1773T>C (n.*1773T>C)
c.1954T>C (p.Ser652Pro)
c.2005T>C (p.Ser669Pro)
n.2169T>C
c.1876T>C (p.Ser626Pro)
5g.78116192A>TCA360185250AP3B1c.*187T>A (n.*187T>A)
c.2011T>A (p.Ser671Thr)
c.1864T>A (p.Ser622Thr)
c.1210T>A (p.Ser404Thr)
c.*1773T>A (n.*1773T>A)
c.1954T>A (p.Ser652Thr)
c.2005T>A (p.Ser669Thr)
n.2169T>A
c.1876T>A (p.Ser626Thr)
5g.78116193A=CA1557301431AP3B1c.*186T= (n.*186T=)
c.2010T= (p.Asn670=)
c.1863T= (p.Asn621=)
c.1209T= (p.Asn403=)
c.*1772T= (n.*1772T=)
c.1953T= (p.Asn651=)
c.2004T= (p.Asn668=)
n.2168T=
c.1875T= (p.Asn625=)
5g.78116193A>CCA360185259AP3B1c.*186T>G (n.*186T>G)
c.2010T>G (p.Asn670Lys)
c.1863T>G (p.Asn621Lys)
c.1209T>G (p.Asn403Lys)
c.*1772T>G (n.*1772T>G)
c.1953T>G (p.Asn651Lys)
c.2004T>G (p.Asn668Lys)
n.2168T>G
c.1875T>G (p.Asn625Lys)
5g.78116193A>GCA121083650AP3B1c.*186T>C (n.*186T>C)
c.2010T>C (p.Asn670=)
c.1863T>C (p.Asn621=)
c.1209T>C (p.Asn403=)
c.*1772T>C (n.*1772T>C)
c.1953T>C (p.Asn651=)
c.2004T>C (p.Asn668=)
n.2168T>C
c.1875T>C (p.Asn625=)
 dbSNP
5g.78116193A>TCA360185256AP3B1c.*186T>A (n.*186T>A)
c.2010T>A (p.Asn670Lys)
c.1863T>A (p.Asn621Lys)
c.1209T>A (p.Asn403Lys)
c.*1772T>A (n.*1772T>A)
c.1953T>A (p.Asn651Lys)
c.2004T>A (p.Asn668Lys)
n.2168T>A
c.1875T>A (p.Asn625Lys)
5g.78116194T>ACA360185265AP3B1c.*185A>T (n.*185A>T)
c.2009A>T (p.Asn670Ile)
c.1862A>T (p.Asn621Ile)
c.1208A>T (p.Asn403Ile)
c.*1771A>T (n.*1771A>T)
c.1952A>T (p.Asn651Ile)
c.2003A>T (p.Asn668Ile)
n.2167A>T
c.1874A>T (p.Asn625Ile)
5g.78116194T>CCA3316893AP3B1c.*185A>G (n.*185A>G)
c.2009A>G (p.Asn670Ser)
c.1862A>G (p.Asn621Ser)
c.1208A>G (p.Asn403Ser)
c.*1771A>G (n.*1771A>G)
c.1952A>G (p.Asn651Ser)
c.2003A>G (p.Asn668Ser)
n.2167A>G
c.1874A>G (p.Asn625Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.78116194T>GCA360185263AP3B1c.*185A>C (n.*185A>C)
c.2009A>C (p.Asn670Thr)
c.1862A>C (p.Asn621Thr)
c.1208A>C (p.Asn403Thr)
c.*1771A>C (n.*1771A>C)
c.1952A>C (p.Asn651Thr)
c.2003A>C (p.Asn668Thr)
n.2167A>C
c.1874A>C (p.Asn625Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.78116194T=CA1557301434AP3B1c.*185A= (n.*185A=)
c.2009A= (p.Asn670=)
c.1862A= (p.Asn621=)
c.1208A= (p.Asn403=)
c.*1771A= (n.*1771A=)
c.1952A= (p.Asn651=)
c.2003A= (p.Asn668=)
n.2167A=
c.1874A= (p.Asn625=)
5g.78116195T>ACA360185267AP3B1c.*184A>T (n.*184A>T)
c.2008A>T (p.Asn670Tyr)
c.1861A>T (p.Asn621Tyr)
c.1207A>T (p.Asn403Tyr)
c.*1770A>T (n.*1770A>T)
c.1951A>T (p.Asn651Tyr)
c.2002A>T (p.Asn668Tyr)
n.2166A>T
c.1873A>T (p.Asn625Tyr)
5g.78116195T>CCA360185269AP3B1c.*184A>G (n.*184A>G)
c.2008A>G (p.Asn670Asp)
c.1861A>G (p.Asn621Asp)
c.1207A>G (p.Asn403Asp)
c.*1770A>G (n.*1770A>G)
c.1951A>G (p.Asn651Asp)
c.2002A>G (p.Asn668Asp)
n.2166A>G
c.1873A>G (p.Asn625Asp)
5g.78116195T>GCA360185270AP3B1c.*184A>C (n.*184A>C)
c.2008A>C (p.Asn670His)
c.1861A>C (p.Asn621His)
c.1207A>C (p.Asn403His)
c.*1770A>C (n.*1770A>C)
c.1951A>C (p.Asn651His)
c.2002A>C (p.Asn668His)
n.2166A>C
c.1873A>C (p.Asn625His)
5g.78116196C>ACA3316894AP3B1c.*183G>T (n.*183G>T)
c.2007G>T (p.Glu669Asp)
c.1860G>T (p.Glu620Asp)
c.1206G>T (p.Glu402Asp)
c.*1769G>T (n.*1769G>T)
c.1950G>T (p.Glu650Asp)
c.2001G>T (p.Glu667Asp)
n.2165G>T
c.1872G>T (p.Glu624Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.78116196C=CA1557301437AP3B1c.*183G= (n.*183G=)
c.2007G= (p.Glu669=)
c.1860G= (p.Glu620=)
c.1206G= (p.Glu402=)
c.*1769G= (n.*1769G=)
c.1950G= (p.Glu650=)
c.2001G= (p.Glu667=)
n.2165G=
c.1872G= (p.Glu624=)
5g.78116196C>GCA360185272AP3B1c.*183G>C (n.*183G>C)
c.2007G>C (p.Glu669Asp)
c.1860G>C (p.Glu620Asp)
c.1206G>C (p.Glu402Asp)
c.*1769G>C (n.*1769G>C)
c.1950G>C (p.Glu650Asp)
c.2001G>C (p.Glu667Asp)
n.2165G>C
c.1872G>C (p.Glu624Asp)
5g.78116196C>TCA445102900AP3B1c.*183G>A (n.*183G>A)
c.2007G>A (p.Glu669=)
c.1860G>A (p.Glu620=)
c.1206G>A (p.Glu402=)
c.*1769G>A (n.*1769G>A)
c.1950G>A (p.Glu650=)
c.2001G>A (p.Glu667=)
n.2165G>A
c.1872G>A (p.Glu624=)
5g.78116197T>ACA360185273AP3B1c.*182A>T (n.*182A>T)
c.2006A>T (p.Glu669Val)
c.1859A>T (p.Glu620Val)
c.1205A>T (p.Glu402Val)
c.*1768A>T (n.*1768A>T)
c.1949A>T (p.Glu650Val)
c.2000A>T (p.Glu667Val)
n.2164A>T
c.1871A>T (p.Glu624Val)
5g.78116197T>CCA360185274AP3B1c.*182A>G (n.*182A>G)
c.2006A>G (p.Glu669Gly)
c.1859A>G (p.Glu620Gly)
c.1205A>G (p.Glu402Gly)
c.*1768A>G (n.*1768A>G)
c.1949A>G (p.Glu650Gly)
c.2000A>G (p.Glu667Gly)
n.2164A>G
c.1871A>G (p.Glu624Gly)
 dbSNP gnomAD v4
5g.78116197T>GCA360185276AP3B1c.*182A>C (n.*182A>C)
c.2006A>C (p.Glu669Ala)
c.1859A>C (p.Glu620Ala)
c.1205A>C (p.Glu402Ala)
c.*1768A>C (n.*1768A>C)
c.1949A>C (p.Glu650Ala)
c.2000A>C (p.Glu667Ala)
n.2164A>C
c.1871A>C (p.Glu624Ala)
 dbSNP gnomAD v4
5g.78116197T=CA1557301440AP3B1c.*182A= (n.*182A=)
c.2006A= (p.Glu669=)
c.1859A= (p.Glu620=)
c.1205A= (p.Glu402=)
c.*1768A= (n.*1768A=)
c.1949A= (p.Glu650=)
c.2000A= (p.Glu667=)
n.2164A=
c.1871A= (p.Glu624=)
5g.78116198C>ACA360185278AP3B1c.*181G>T (n.*181G>T)
c.2005G>T (p.Glu669Ter)
c.1858G>T (p.Glu620Ter)
c.1204G>T (p.Glu402Ter)
c.*1767G>T (n.*1767G>T)
c.1948G>T (p.Glu650Ter)
c.1999G>T (p.Glu667Ter)
n.2163G>T
c.1870G>T (p.Glu624Ter)
 dbSNP gnomAD v4
5g.78116198C=CA1557301442AP3B1c.*181G= (n.*181G=)
c.2005G= (p.Glu669=)
c.1858G= (p.Glu620=)
c.1204G= (p.Glu402=)
c.*1767G= (n.*1767G=)
c.1948G= (p.Glu650=)
c.1999G= (p.Glu667=)
n.2163G=
c.1870G= (p.Glu624=)
5g.78116198C>GCA360185280AP3B1c.*181G>C (n.*181G>C)
c.2005G>C (p.Glu669Gln)
c.1858G>C (p.Glu620Gln)
c.1204G>C (p.Glu402Gln)
c.*1767G>C (n.*1767G>C)
c.1948G>C (p.Glu650Gln)
c.1999G>C (p.Glu667Gln)
n.2163G>C
c.1870G>C (p.Glu624Gln)
5g.78116198C>TCA360185282AP3B1c.*181G>A (n.*181G>A)
c.2005G>A (p.Glu669Lys)
c.1858G>A (p.Glu620Lys)
c.1204G>A (p.Glu402Lys)
c.*1767G>A (n.*1767G>A)
c.1948G>A (p.Glu650Lys)
c.1999G>A (p.Glu667Lys)
n.2163G>A
c.1870G>A (p.Glu624Lys)
5g.78116199T>ACA360185284AP3B1c.*180A>T (n.*180A>T)
c.2004A>T (p.Gln668His)
c.1857A>T (p.Gln619His)
c.1203A>T (p.Gln401His)
c.*1766A>T (n.*1766A>T)
c.1947A>T (p.Gln649His)
c.1998A>T (p.Gln666His)
n.2162A>T
c.1869A>T (p.Gln623His)
5g.78116199T>CCA445102911AP3B1c.*180A>G (n.*180A>G)
c.2004A>G (p.Gln668=)
c.1857A>G (p.Gln619=)
c.1203A>G (p.Gln401=)
c.*1766A>G (n.*1766A>G)
c.1947A>G (p.Gln649=)
c.1998A>G (p.Gln666=)
n.2162A>G
c.1869A>G (p.Gln623=)
 gnomAD v4
5g.78116199T>GCA360185286AP3B1c.*180A>C (n.*180A>C)
c.2004A>C (p.Gln668His)
c.1857A>C (p.Gln619His)
c.1203A>C (p.Gln401His)
c.*1766A>C (n.*1766A>C)
c.1947A>C (p.Gln649His)
c.1998A>C (p.Gln666His)
n.2162A>C
c.1869A>C (p.Gln623His)
5g.78116200T>ACA360185288AP3B1c.*179A>T (n.*179A>T)
c.2003A>T (p.Gln668Leu)
c.1856A>T (p.Gln619Leu)
c.1202A>T (p.Gln401Leu)
c.*1765A>T (n.*1765A>T)
c.1946A>T (p.Gln649Leu)
c.1997A>T (p.Gln666Leu)
n.2161A>T
c.1868A>T (p.Gln623Leu)
5g.78116200T>CCA360185290AP3B1c.*179A>G (n.*179A>G)
c.2003A>G (p.Gln668Arg)
c.1856A>G (p.Gln619Arg)
c.1202A>G (p.Gln401Arg)
c.*1765A>G (n.*1765A>G)
c.1946A>G (p.Gln649Arg)
c.1997A>G (p.Gln666Arg)
n.2161A>G
c.1868A>G (p.Gln623Arg)
5g.78116200T>GCA360185292AP3B1c.*179A>C (n.*179A>C)
c.2003A>C (p.Gln668Pro)
c.1856A>C (p.Gln619Pro)
c.1202A>C (p.Gln401Pro)
c.*1765A>C (n.*1765A>C)
c.1946A>C (p.Gln649Pro)
c.1997A>C (p.Gln666Pro)
n.2161A>C
c.1868A>C (p.Gln623Pro)
5g.78116201G>ACA360185294AP3B1c.*178C>T (n.*178C>T)
c.2002C>T (p.Gln668Ter)
c.1855C>T (p.Gln619Ter)
c.1201C>T (p.Gln401Ter)
c.*1764C>T (n.*1764C>T)
c.1945C>T (p.Gln649Ter)
c.1996C>T (p.Gln666Ter)
n.2160C>T
c.1867C>T (p.Gln623Ter)
5g.78116201G>CCA360185297AP3B1c.*178C>G (n.*178C>G)
c.2002C>G (p.Gln668Glu)
c.1855C>G (p.Gln619Glu)
c.1201C>G (p.Gln401Glu)
c.*1764C>G (n.*1764C>G)
c.1945C>G (p.Gln649Glu)
c.1996C>G (p.Gln666Glu)
n.2160C>G
c.1867C>G (p.Gln623Glu)
5g.78116201G>TCA360185299AP3B1c.*178C>A (n.*178C>A)
c.2002C>A (p.Gln668Lys)
c.1855C>A (p.Gln619Lys)
c.1201C>A (p.Gln401Lys)
c.*1764C>A (n.*1764C>A)
c.1945C>A (p.Gln649Lys)
c.1996C>A (p.Gln666Lys)
n.2160C>A
c.1867C>A (p.Gln623Lys)
 gnomAD v4
5g.78116202C>ACA360185300AP3B1c.*177G>T (n.*177G>T)
c.2001G>T (p.Lys667Asn)
c.1854G>T (p.Lys618Asn)
c.1200G>T (p.Lys400Asn)
c.*1763G>T (n.*1763G>T)
c.1944G>T (p.Lys648Asn)
c.1995G>T (p.Lys665Asn)
n.2159G>T
c.1866G>T (p.Lys622Asn)
5g.78116202C=CA1557301444AP3B1c.*177G= (n.*177G=)
c.2001G= (p.Lys667=)
c.1854G= (p.Lys618=)
c.1200G= (p.Lys400=)
c.*1763G= (n.*1763G=)
c.1944G= (p.Lys648=)
c.1995G= (p.Lys665=)
n.2159G=
c.1866G= (p.Lys622=)
5g.78116202C>GCA360185303AP3B1c.*177G>C (n.*177G>C)
c.2001G>C (p.Lys667Asn)
c.1854G>C (p.Lys618Asn)
c.1200G>C (p.Lys400Asn)
c.*1763G>C (n.*1763G>C)
c.1944G>C (p.Lys648Asn)
c.1995G>C (p.Lys665Asn)
n.2159G>C
c.1866G>C (p.Lys622Asn)
 dbSNP
5g.78116202C>TCA445102918AP3B1c.*177G>A (n.*177G>A)
c.2001G>A (p.Lys667=)
c.1854G>A (p.Lys618=)
c.1200G>A (p.Lys400=)
c.*1763G>A (n.*1763G>A)
c.1944G>A (p.Lys648=)
c.1995G>A (p.Lys665=)
n.2159G>A
c.1866G>A (p.Lys622=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.78116203T>ACA360185305AP3B1c.*176A>T (n.*176A>T)
c.2000A>T (p.Lys667Met)
c.1853A>T (p.Lys618Met)
c.1199A>T (p.Lys400Met)
c.*1762A>T (n.*1762A>T)
c.1943A>T (p.Lys648Met)
c.1994A>T (p.Lys665Met)
n.2158A>T
c.1865A>T (p.Lys622Met)
 gnomAD v4
5g.78116203T>CCA360185307AP3B1c.*176A>G (n.*176A>G)
c.2000A>G (p.Lys667Arg)
c.1853A>G (p.Lys618Arg)
c.1199A>G (p.Lys400Arg)
c.*1762A>G (n.*1762A>G)
c.1943A>G (p.Lys648Arg)
c.1994A>G (p.Lys665Arg)
n.2158A>G
c.1865A>G (p.Lys622Arg)
5g.78116203T>GCA360185311AP3B1c.*176A>C (n.*176A>C)
c.2000A>C (p.Lys667Thr)
c.1853A>C (p.Lys618Thr)
c.1199A>C (p.Lys400Thr)
c.*1762A>C (n.*1762A>C)
c.1943A>C (p.Lys648Thr)
c.1994A>C (p.Lys665Thr)
n.2158A>C
c.1865A>C (p.Lys622Thr)
5g.78116204T>ACA360185317AP3B1c.*175A>T (n.*175A>T)
c.1999A>T (p.Lys667Ter)
c.1852A>T (p.Lys618Ter)
c.1198A>T (p.Lys400Ter)
c.*1761A>T (n.*1761A>T)
c.1942A>T (p.Lys648Ter)
c.1993A>T (p.Lys665Ter)
n.2157A>T
c.1864A>T (p.Lys622Ter)
 gnomAD v3 gnomAD v4
5g.78116204T>CCA360185320AP3B1c.*175A>G (n.*175A>G)
c.1999A>G (p.Lys667Glu)
c.1852A>G (p.Lys618Glu)
c.1198A>G (p.Lys400Glu)
c.*1761A>G (n.*1761A>G)
c.1942A>G (p.Lys648Glu)
c.1993A>G (p.Lys665Glu)
n.2157A>G
c.1864A>G (p.Lys622Glu)
 gnomAD v4
5g.78116204T>GCA360185314AP3B1c.*175A>C (n.*175A>C)
c.1999A>C (p.Lys667Gln)
c.1852A>C (p.Lys618Gln)
c.1198A>C (p.Lys400Gln)
c.*1761A>C (n.*1761A>C)
c.1942A>C (p.Lys648Gln)
c.1993A>C (p.Lys665Gln)
n.2157A>C
c.1864A>C (p.Lys622Gln)
5g.78116205T>ACA445102927AP3B1c.*174A>T (n.*174A>T)
c.1998A>T (p.Ala666=)
c.1851A>T (p.Ala617=)
c.1197A>T (p.Ala399=)
c.*1760A>T (n.*1760A>T)
c.1941A>T (p.Ala647=)
c.1992A>T (p.Ala664=)
n.2156A>T
c.1863A>T (p.Ala621=)
5g.78116205T>CCA445102931AP3B1c.*174A>G (n.*174A>G)
c.1998A>G (p.Ala666=)
c.1851A>G (p.Ala617=)
c.1197A>G (p.Ala399=)
c.*1760A>G (n.*1760A>G)
c.1941A>G (p.Ala647=)
c.1992A>G (p.Ala664=)
n.2156A>G
c.1863A>G (p.Ala621=)
5g.78116205T>GCA445102929AP3B1c.*174A>C (n.*174A>C)
c.1998A>C (p.Ala666=)
c.1851A>C (p.Ala617=)
c.1197A>C (p.Ala399=)
c.*1760A>C (n.*1760A>C)
c.1941A>C (p.Ala647=)
c.1992A>C (p.Ala664=)
n.2156A>C
c.1863A>C (p.Ala621=)
5g.78116206G>ACA121083660AP3B1c.*173C>T (n.*173C>T)
c.1997C>T (p.Ala666Val)
c.1850C>T (p.Ala617Val)
c.1196C>T (p.Ala399Val)
c.*1759C>T (n.*1759C>T)
c.1940C>T (p.Ala647Val)
c.1991C>T (p.Ala664Val)
n.2155C>T
c.1862C>T (p.Ala621Val)
 dbSNP
5g.78116206G>CCA360185326AP3B1c.*173C>G (n.*173C>G)
c.1997C>G (p.Ala666Gly)
c.1850C>G (p.Ala617Gly)
c.1196C>G (p.Ala399Gly)
c.*1759C>G (n.*1759C>G)
c.1940C>G (p.Ala647Gly)
c.1991C>G (p.Ala664Gly)
n.2155C>G
c.1862C>G (p.Ala621Gly)
5g.78116206G=CA1557301447AP3B1c.*173C= (n.*173C=)
c.1997C= (p.Ala666=)
c.1850C= (p.Ala617=)
c.1196C= (p.Ala399=)
c.*1759C= (n.*1759C=)
c.1940C= (p.Ala647=)
c.1991C= (p.Ala664=)
n.2155C=
c.1862C= (p.Ala621=)
5g.78116206G>TCA360185330AP3B1c.*173C>A (n.*173C>A)
c.1997C>A (p.Ala666Glu)
c.1850C>A (p.Ala617Glu)
c.1196C>A (p.Ala399Glu)
c.*1759C>A (n.*1759C>A)
c.1940C>A (p.Ala647Glu)
c.1991C>A (p.Ala664Glu)
n.2155C>A
c.1862C>A (p.Ala621Glu)
5g.78116207C>ACA360185334AP3B1c.*172G>T (n.*172G>T)
c.1996G>T (p.Ala666Ser)
c.1849G>T (p.Ala617Ser)
c.1195G>T (p.Ala399Ser)
c.*1758G>T (n.*1758G>T)
c.1939G>T (p.Ala647Ser)
c.1990G>T (p.Ala664Ser)
n.2154G>T
c.1861G>T (p.Ala621Ser)
5g.78116207C=CA1557301450AP3B1c.*172G= (n.*172G=)
c.1996G= (p.Ala666=)
c.1849G= (p.Ala617=)
c.1195G= (p.Ala399=)
c.*1758G= (n.*1758G=)
c.1939G= (p.Ala647=)
c.1990G= (p.Ala664=)
n.2154G=
c.1861G= (p.Ala621=)
5g.78116207C>GCA360185336AP3B1c.*172G>C (n.*172G>C)
c.1996G>C (p.Ala666Pro)
c.1849G>C (p.Ala617Pro)
c.1195G>C (p.Ala399Pro)
c.*1758G>C (n.*1758G>C)
c.1939G>C (p.Ala647Pro)
c.1990G>C (p.Ala664Pro)
n.2154G>C
c.1861G>C (p.Ala621Pro)
5g.78116207C>TCA360185338AP3B1c.*172G>A (n.*172G>A)
c.1996G>A (p.Ala666Thr)
c.1849G>A (p.Ala617Thr)
c.1195G>A (p.Ala399Thr)
c.*1758G>A (n.*1758G>A)
c.1939G>A (p.Ala647Thr)
c.1990G>A (p.Ala664Thr)
n.2154G>A
c.1861G>A (p.Ala621Thr)
 dbSNP
5g.78116208T>ACA360185343AP3B1c.*171A>T (n.*171A>T)
c.1995A>T (p.Lys665Asn)
c.1848A>T (p.Lys616Asn)
c.1194A>T (p.Lys398Asn)
c.*1757A>T (n.*1757A>T)
c.1938A>T (p.Lys646Asn)
c.1989A>T (p.Lys663Asn)
n.2153A>T
c.1860A>T (p.Lys620Asn)
5g.78116208T>CCA3316895AP3B1c.*171A>G (n.*171A>G)
c.1995A>G (p.Lys665=)
c.1848A>G (p.Lys616=)
c.1194A>G (p.Lys398=)
c.*1757A>G (n.*1757A>G)
c.1938A>G (p.Lys646=)
c.1989A>G (p.Lys663=)
n.2153A>G
c.1860A>G (p.Lys620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116208T>GCA360185346AP3B1c.*171A>C (n.*171A>C)
c.1995A>C (p.Lys665Asn)
c.1848A>C (p.Lys616Asn)
c.1194A>C (p.Lys398Asn)
c.*1757A>C (n.*1757A>C)
c.1938A>C (p.Lys646Asn)
c.1989A>C (p.Lys663Asn)
n.2153A>C
c.1860A>C (p.Lys620Asn)
5g.78116208T=CA1557301452AP3B1c.*171A= (n.*171A=)
c.1995A= (p.Lys665=)
c.1848A= (p.Lys616=)
c.1194A= (p.Lys398=)
c.*1757A= (n.*1757A=)
c.1938A= (p.Lys646=)
c.1989A= (p.Lys663=)
n.2153A=
c.1860A= (p.Lys620=)
5g.78116211dupCA2578344413AP3B1c.*171dup (n.*171dup)
c.1995dup (p.Ala666SerfsTer8)
c.1848dup (p.Ala617SerfsTer8)
c.1194dup (p.Ala399SerfsTer8)
c.*1757dup (n.*1757dup)
c.1938dup (p.Ala647SerfsTer8)
c.1989dup (p.Ala664SerfsTer8)
n.2153dup
c.1860dup (p.Ala621SerfsTer8)
5g.78116211delCA2674353062AP3B1c.*171del (n.*171del)
c.1995del (p.Ala666GlnfsTer?)
c.1848del (p.Ala617GlnfsTer?)
c.1194del (p.Ala399GlnfsTer?)
c.*1757del (n.*1757del)
c.1938del (p.Ala647GlnfsTer?)
c.1989del (p.Ala664GlnfsTer?)
n.2153del
c.1860del (p.Ala621GlnfsTer?)
 gnomAD v4
5g.78116209T>ACA360185349AP3B1c.*170A>T (n.*170A>T)
c.1994A>T (p.Lys665Ile)
c.1847A>T (p.Lys616Ile)
c.1193A>T (p.Lys398Ile)
c.*1756A>T (n.*1756A>T)
c.1937A>T (p.Lys646Ile)
c.1988A>T (p.Lys663Ile)
n.2152A>T
c.1859A>T (p.Lys620Ile)
5g.78116209T>CCA360185351AP3B1c.*170A>G (n.*170A>G)
c.1994A>G (p.Lys665Arg)
c.1847A>G (p.Lys616Arg)
c.1193A>G (p.Lys398Arg)
c.*1756A>G (n.*1756A>G)
c.1937A>G (p.Lys646Arg)
c.1988A>G (p.Lys663Arg)
n.2152A>G
c.1859A>G (p.Lys620Arg)
 gnomAD v4
5g.78116209T>GCA360185358AP3B1c.*170A>C (n.*170A>C)
c.1994A>C (p.Lys665Thr)
c.1847A>C (p.Lys616Thr)
c.1193A>C (p.Lys398Thr)
c.*1756A>C (n.*1756A>C)
c.1937A>C (p.Lys646Thr)
c.1988A>C (p.Lys663Thr)
n.2152A>C
c.1859A>C (p.Lys620Thr)
5g.78116210T>ACA360185364AP3B1c.*169A>T (n.*169A>T)
c.1993A>T (p.Lys665Ter)
c.1846A>T (p.Lys616Ter)
c.1192A>T (p.Lys398Ter)
c.*1755A>T (n.*1755A>T)
c.1936A>T (p.Lys646Ter)
c.1987A>T (p.Lys663Ter)
n.2151A>T
c.1858A>T (p.Lys620Ter)
5g.78116210T>CCA360185367AP3B1c.*169A>G (n.*169A>G)
c.1993A>G (p.Lys665Glu)
c.1846A>G (p.Lys616Glu)
c.1192A>G (p.Lys398Glu)
c.*1755A>G (n.*1755A>G)
c.1936A>G (p.Lys646Glu)
c.1987A>G (p.Lys663Glu)
n.2151A>G
c.1858A>G (p.Lys620Glu)
5g.78116210T>GCA360185361AP3B1c.*169A>C (n.*169A>C)
c.1993A>C (p.Lys665Gln)
c.1846A>C (p.Lys616Gln)
c.1192A>C (p.Lys398Gln)
c.*1755A>C (n.*1755A>C)
c.1936A>C (p.Lys646Gln)
c.1987A>C (p.Lys663Gln)
n.2151A>C
c.1858A>C (p.Lys620Gln)
5g.78116211T>ACA445102948AP3B1c.*168A>T (n.*168A>T)
c.1992A>T (p.Gly664=)
c.1845A>T (p.Gly615=)
c.1191A>T (p.Gly397=)
c.*1754A>T (n.*1754A>T)
c.1935A>T (p.Gly645=)
c.1986A>T (p.Gly662=)
n.2150A>T
c.1857A>T (p.Gly619=)
 dbSNP gnomAD v2 gnomAD v4
5g.78116211T>CCA445102949AP3B1c.*168A>G (n.*168A>G)
c.1992A>G (p.Gly664=)
c.1845A>G (p.Gly615=)
c.1191A>G (p.Gly397=)
c.*1754A>G (n.*1754A>G)
c.1935A>G (p.Gly645=)
c.1986A>G (p.Gly662=)
n.2150A>G
c.1857A>G (p.Gly619=)
5g.78116211T>GCA445102950AP3B1c.*168A>C (n.*168A>C)
c.1992A>C (p.Gly664=)
c.1845A>C (p.Gly615=)
c.1191A>C (p.Gly397=)
c.*1754A>C (n.*1754A>C)
c.1935A>C (p.Gly645=)
c.1986A>C (p.Gly662=)
n.2150A>C
c.1857A>C (p.Gly619=)
5g.78116211T=CA1557301457AP3B1c.*168A= (n.*168A=)
c.1992A= (p.Gly664=)
c.1845A= (p.Gly615=)
c.1191A= (p.Gly397=)
c.*1754A= (n.*1754A=)
c.1935A= (p.Gly645=)
c.1986A= (p.Gly662=)
n.2150A=
c.1857A= (p.Gly619=)
5g.78116212C>ACA360185370AP3B1c.*167G>T (n.*167G>T)
c.1991G>T (p.Gly664Val)
c.1844G>T (p.Gly615Val)
c.1190G>T (p.Gly397Val)
c.*1753G>T (n.*1753G>T)
c.1934G>T (p.Gly645Val)
c.1985G>T (p.Gly662Val)
n.2149G>T
c.1856G>T (p.Gly619Val)
 gnomAD v4
5g.78116212C>GCA360185372AP3B1c.*167G>C (n.*167G>C)
c.1991G>C (p.Gly664Ala)
c.1844G>C (p.Gly615Ala)
c.1190G>C (p.Gly397Ala)
c.*1753G>C (n.*1753G>C)
c.1934G>C (p.Gly645Ala)
c.1985G>C (p.Gly662Ala)
n.2149G>C
c.1856G>C (p.Gly619Ala)
5g.78116212C>TCA360185374AP3B1c.*167G>A (n.*167G>A)
c.1991G>A (p.Gly664Glu)
c.1844G>A (p.Gly615Glu)
c.1190G>A (p.Gly397Glu)
c.*1753G>A (n.*1753G>A)
c.1934G>A (p.Gly645Glu)
c.1985G>A (p.Gly662Glu)
n.2149G>A
c.1856G>A (p.Gly619Glu)
5g.78116212_78116248delinsCCTGCTGGGGTCCATTCTTTTGCCTGTTTAAACAAATCA1557301459AP3B1c.*145-14_*167delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1969-14_1991delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1822-14_1844delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1168-14_1190delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.*1731-14_*1753delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1912-14_1934delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1963-14_1985delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
n.2127-14_2149delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
c.1834-14_1856delinsATTTGTTTAAACAGGCAAAAGAATGGACCCCAGCAGG
5g.78116213C>ACA360185375AP3B1c.*166G>T (n.*166G>T)
c.1990G>T (p.Gly664Ter)
c.1843G>T (p.Gly615Ter)
c.1189G>T (p.Gly397Ter)
c.*1752G>T (n.*1752G>T)
c.1933G>T (p.Gly645Ter)
c.1984G>T (p.Gly662Ter)
n.2148G>T
c.1855G>T (p.Gly619Ter)
5g.78116213C>GCA360185377AP3B1c.*166G>C (n.*166G>C)
c.1990G>C (p.Gly664Arg)
c.1843G>C (p.Gly615Arg)
c.1189G>C (p.Gly397Arg)
c.*1752G>C (n.*1752G>C)
c.1933G>C (p.Gly645Arg)
c.1984G>C (p.Gly662Arg)
n.2148G>C
c.1855G>C (p.Gly619Arg)
5g.78116213C>TCA360185380AP3B1c.*166G>A (n.*166G>A)
c.1990G>A (p.Gly664Arg)
c.1843G>A (p.Gly615Arg)
c.1189G>A (p.Gly397Arg)
c.*1752G>A (n.*1752G>A)
c.1933G>A (p.Gly645Arg)
c.1984G>A (p.Gly662Arg)
n.2148G>A
c.1855G>A (p.Gly619Arg)
5g.78116213_78116248delCA560500128AP3B1c.*145-14_*166del
c.1969-14_1990del
c.1822-14_1843del
c.1168-14_1189del
c.*1731-14_*1752del
c.1912-14_1933del
c.1963-14_1984del
n.2127-14_2148del
c.1834-14_1855del
 dbSNP gnomAD v2
5g.78116214T>ACA3316896AP3B1c.*165A>T (n.*165A>T)
c.1989A>T (p.Ala663=)
c.1842A>T (p.Ala614=)
c.1188A>T (p.Ala396=)
c.*1751A>T (n.*1751A>T)
c.1932A>T (p.Ala644=)
c.1983A>T (p.Ala661=)
n.2147A>T
c.1854A>T (p.Ala618=)
 dbSNP ExAC gnomAD v2
5g.78116214T>CCA3316897AP3B1c.*165A>G (n.*165A>G)
c.1989A>G (p.Ala663=)
c.1842A>G (p.Ala614=)
c.1188A>G (p.Ala396=)
c.*1751A>G (n.*1751A>G)
c.1932A>G (p.Ala644=)
c.1983A>G (p.Ala661=)
n.2147A>G
c.1854A>G (p.Ala618=)
 dbSNP ExAC
5g.78116214T>GCA445102954AP3B1c.*165A>C (n.*165A>C)
c.1989A>C (p.Ala663=)
c.1842A>C (p.Ala614=)
c.1188A>C (p.Ala396=)
c.*1751A>C (n.*1751A>C)
c.1932A>C (p.Ala644=)
c.1983A>C (p.Ala661=)
n.2147A>C
c.1854A>C (p.Ala618=)
5g.78116214T=CA1557301463AP3B1c.*165A= (n.*165A=)
c.1989A= (p.Ala663=)
c.1842A= (p.Ala614=)
c.1188A= (p.Ala396=)
c.*1751A= (n.*1751A=)
c.1932A= (p.Ala644=)
c.1983A= (p.Ala661=)
n.2147A=
c.1854A= (p.Ala618=)
5g.78116215G>ACA360185389AP3B1c.*164C>T (n.*164C>T)
c.1988C>T (p.Ala663Val)
c.1841C>T (p.Ala614Val)
c.1187C>T (p.Ala396Val)
c.*1750C>T (n.*1750C>T)
c.1931C>T (p.Ala644Val)
c.1982C>T (p.Ala661Val)
n.2146C>T
c.1853C>T (p.Ala618Val)
 ClinVar dbSNP
5g.78116215G>CCA360185391AP3B1c.*164C>G (n.*164C>G)
c.1988C>G (p.Ala663Gly)
c.1841C>G (p.Ala614Gly)
c.1187C>G (p.Ala396Gly)
c.*1750C>G (n.*1750C>G)
c.1931C>G (p.Ala644Gly)
c.1982C>G (p.Ala661Gly)
n.2146C>G
c.1853C>G (p.Ala618Gly)
5g.78116215G>TCA360185392AP3B1c.*164C>A (n.*164C>A)
c.1988C>A (p.Ala663Glu)
c.1841C>A (p.Ala614Glu)
c.1187C>A (p.Ala396Glu)
c.*1750C>A (n.*1750C>A)
c.1931C>A (p.Ala644Glu)
c.1982C>A (p.Ala661Glu)
n.2146C>A
c.1853C>A (p.Ala618Glu)
5g.78116216C>ACA360185401AP3B1c.*163G>T (n.*163G>T)
c.1987G>T (p.Ala663Ser)
c.1840G>T (p.Ala614Ser)
c.1186G>T (p.Ala396Ser)
c.*1749G>T (n.*1749G>T)
c.1930G>T (p.Ala644Ser)
c.1981G>T (p.Ala661Ser)
n.2145G>T
c.1852G>T (p.Ala618Ser)
5g.78116216C=CA1557301467AP3B1c.*163G= (n.*163G=)
c.1987G= (p.Ala663=)
c.1840G= (p.Ala614=)
c.1186G= (p.Ala396=)
c.*1749G= (n.*1749G=)
c.1930G= (p.Ala644=)
c.1981G= (p.Ala661=)
n.2145G=
c.1852G= (p.Ala618=)
5g.78116216C>GCA360185404AP3B1c.*163G>C (n.*163G>C)
c.1987G>C (p.Ala663Pro)
c.1840G>C (p.Ala614Pro)
c.1186G>C (p.Ala396Pro)
c.*1749G>C (n.*1749G>C)
c.1930G>C (p.Ala644Pro)
c.1981G>C (p.Ala661Pro)
n.2145G>C
c.1852G>C (p.Ala618Pro)
5g.78116216C>TCA360185408AP3B1c.*163G>A (n.*163G>A)
c.1987G>A (p.Ala663Thr)
c.1840G>A (p.Ala614Thr)
c.1186G>A (p.Ala396Thr)
c.*1749G>A (n.*1749G>A)
c.1930G>A (p.Ala644Thr)
c.1981G>A (p.Ala661Thr)
n.2145G>A
c.1852G>A (p.Ala618Thr)
 dbSNP
5g.78116217T>ACA445102968AP3B1c.*162A>T (n.*162A>T)
c.1986A>T (p.Pro662=)
c.1839A>T (p.Pro613=)
c.1185A>T (p.Pro395=)
c.*1748A>T (n.*1748A>T)
c.1929A>T (p.Pro643=)
c.1980A>T (p.Pro660=)
n.2144A>T
c.1851A>T (p.Pro617=)
5g.78116217T>CCA445102970AP3B1c.*162A>G (n.*162A>G)
c.1986A>G (p.Pro662=)
c.1839A>G (p.Pro613=)
c.1185A>G (p.Pro395=)
c.*1748A>G (n.*1748A>G)
c.1929A>G (p.Pro643=)
c.1980A>G (p.Pro660=)
n.2144A>G
c.1851A>G (p.Pro617=)
5g.78116217T>GCA445102973AP3B1c.*162A>C (n.*162A>C)
c.1986A>C (p.Pro662=)
c.1839A>C (p.Pro613=)
c.1185A>C (p.Pro395=)
c.*1748A>C (n.*1748A>C)
c.1929A>C (p.Pro643=)
c.1980A>C (p.Pro660=)
n.2144A>C
c.1851A>C (p.Pro617=)
5g.78116218G>ACA360185415AP3B1c.*161C>T (n.*161C>T)
c.1985C>T (p.Pro662Leu)
c.1838C>T (p.Pro613Leu)
c.1184C>T (p.Pro395Leu)
c.*1747C>T (n.*1747C>T)
c.1928C>T (p.Pro643Leu)
c.1979C>T (p.Pro660Leu)
n.2143C>T
c.1850C>T (p.Pro617Leu)
 gnomAD v4
5g.78116218G>CCA360185412AP3B1c.*161C>G (n.*161C>G)
c.1985C>G (p.Pro662Arg)
c.1838C>G (p.Pro613Arg)
c.1184C>G (p.Pro395Arg)
c.*1747C>G (n.*1747C>G)
c.1928C>G (p.Pro643Arg)
c.1979C>G (p.Pro660Arg)
n.2143C>G
c.1850C>G (p.Pro617Arg)
5g.78116218G>TCA360185411AP3B1c.*161C>A (n.*161C>A)
c.1985C>A (p.Pro662Gln)
c.1838C>A (p.Pro613Gln)
c.1184C>A (p.Pro395Gln)
c.*1747C>A (n.*1747C>A)
c.1928C>A (p.Pro643Gln)
c.1979C>A (p.Pro660Gln)
n.2143C>A
c.1850C>A (p.Pro617Gln)
5g.78116219G>ACA360185417AP3B1c.*160C>T (n.*160C>T)
c.1984C>T (p.Pro662Ser)
c.1837C>T (p.Pro613Ser)
c.1183C>T (p.Pro395Ser)
c.*1746C>T (n.*1746C>T)
c.1927C>T (p.Pro643Ser)
c.1978C>T (p.Pro660Ser)
n.2142C>T
c.1849C>T (p.Pro617Ser)
 gnomAD v4
5g.78116219G>CCA3316898AP3B1c.*160C>G (n.*160C>G)
c.1984C>G (p.Pro662Ala)
c.1837C>G (p.Pro613Ala)
c.1183C>G (p.Pro395Ala)
c.*1746C>G (n.*1746C>G)
c.1927C>G (p.Pro643Ala)
c.1978C>G (p.Pro660Ala)
n.2142C>G
c.1849C>G (p.Pro617Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.78116219G=CA1557301471AP3B1c.*160C= (n.*160C=)
c.1984C= (p.Pro662=)
c.1837C= (p.Pro613=)
c.1183C= (p.Pro395=)
c.*1746C= (n.*1746C=)
c.1927C= (p.Pro643=)
c.1978C= (p.Pro660=)
n.2142C=
c.1849C= (p.Pro617=)
5g.78116219G>TCA360185422AP3B1c.*160C>A (n.*160C>A)
c.1984C>A (p.Pro662Thr)
c.1837C>A (p.Pro613Thr)
c.1183C>A (p.Pro395Thr)
c.*1746C>A (n.*1746C>A)
c.1927C>A (p.Pro643Thr)
c.1978C>A (p.Pro660Thr)
n.2142C>A
c.1849C>A (p.Pro617Thr)
5g.78116220G>ACA445102979AP3B1c.*159C>T (n.*159C>T)
c.1983C>T (p.Thr661=)
c.1836C>T (p.Thr612=)
c.1182C>T (p.Thr394=)
c.*1745C>T (n.*1745C>T)
c.1926C>T (p.Thr642=)
c.1977C>T (p.Thr659=)
n.2141C>T
c.1848C>T (p.Thr616=)
5g.78116220G>CCA445102981AP3B1c.*159C>G (n.*159C>G)
c.1983C>G (p.Thr661=)
c.1836C>G (p.Thr612=)
c.1182C>G (p.Thr394=)
c.*1745C>G (n.*1745C>G)
c.1926C>G (p.Thr642=)
c.1977C>G (p.Thr659=)
n.2141C>G
c.1848C>G (p.Thr616=)
5g.78116220G>TCA445102984AP3B1c.*159C>A (n.*159C>A)
c.1983C>A (p.Thr661=)
c.1836C>A (p.Thr612=)
c.1182C>A (p.Thr394=)
c.*1745C>A (n.*1745C>A)
c.1926C>A (p.Thr642=)
c.1977C>A (p.Thr659=)
n.2141C>A
c.1848C>A (p.Thr616=)
5g.78116220_78116230dupCA2697547241AP3B1c.*149_*159dup (n.*149_*159dup)
c.1973_1983dup (p.Pro662LysfsTer?)
c.1826_1836dup (p.Pro613LysfsTer?)
c.1172_1182dup (p.Pro395LysfsTer?)
c.*1735_*1745dup (n.*1735_*1745dup)
c.1916_1926dup (p.Pro643LysfsTer?)
c.1967_1977dup (p.Pro660LysfsTer?)
n.2131_2141dup
c.1838_1848dup (p.Pro617LysfsTer?)
 ClinVar
5g.78116221G>ACA360185426AP3B1c.*158C>T (n.*158C>T)
c.1982C>T (p.Thr661Ile)
c.1835C>T (p.Thr612Ile)
c.1181C>T (p.Thr394Ile)
c.*1744C>T (n.*1744C>T)
c.1925C>T (p.Thr642Ile)
c.1976C>T (p.Thr659Ile)
n.2140C>T
c.1847C>T (p.Thr616Ile)
5g.78116221G>CCA360185428AP3B1c.*158C>G (n.*158C>G)
c.1982C>G (p.Thr661Ser)
c.1835C>G (p.Thr612Ser)
c.1181C>G (p.Thr394Ser)
c.*1744C>G (n.*1744C>G)
c.1925C>G (p.Thr642Ser)
c.1976C>G (p.Thr659Ser)
n.2140C>G
c.1847C>G (p.Thr616Ser)
5g.78116221G>TCA360185431AP3B1c.*158C>A (n.*158C>A)
c.1982C>A (p.Thr661Asn)
c.1835C>A (p.Thr612Asn)
c.1181C>A (p.Thr394Asn)
c.*1744C>A (n.*1744C>A)
c.1925C>A (p.Thr642Asn)
c.1976C>A (p.Thr659Asn)
n.2140C>A
c.1847C>A (p.Thr616Asn)
 gnomAD v4
5g.78116222T>ACA360185439AP3B1c.*157A>T (n.*157A>T)
c.1981A>T (p.Thr661Ser)
c.1834A>T (p.Thr612Ser)
c.1180A>T (p.Thr394Ser)
c.*1743A>T (n.*1743A>T)
c.1924A>T (p.Thr642Ser)
c.1975A>T (p.Thr659Ser)
n.2139A>T
c.1846A>T (p.Thr616Ser)
5g.78116222T>CCA360185436AP3B1c.*157A>G (n.*157A>G)
c.1981A>G (p.Thr661Ala)
c.1834A>G (p.Thr612Ala)
c.1180A>G (p.Thr394Ala)
c.*1743A>G (n.*1743A>G)
c.1924A>G (p.Thr642Ala)
c.1975A>G (p.Thr659Ala)
n.2139A>G
c.1846A>G (p.Thr616Ala)
5g.78116222T>GCA360185433AP3B1c.*157A>C (n.*157A>C)
c.1981A>C (p.Thr661Pro)
c.1834A>C (p.Thr612Pro)
c.1180A>C (p.Thr394Pro)
c.*1743A>C (n.*1743A>C)
c.1924A>C (p.Thr642Pro)
c.1975A>C (p.Thr659Pro)
n.2139A>C
c.1846A>C (p.Thr616Pro)
5g.78116223C>ACA360185442AP3B1c.*156G>T (n.*156G>T)
c.1980G>T (p.Trp660Cys)
c.1833G>T (p.Trp611Cys)
c.1179G>T (p.Trp393Cys)
c.*1742G>T (n.*1742G>T)
c.1923G>T (p.Trp641Cys)
c.1974G>T (p.Trp658Cys)
n.2138G>T
c.1845G>T (p.Trp615Cys)
5g.78116223C>GCA360185445AP3B1c.*156G>C (n.*156G>C)
c.1980G>C (p.Trp660Cys)
c.1833G>C (p.Trp611Cys)
c.1179G>C (p.Trp393Cys)
c.*1742G>C (n.*1742G>C)
c.1923G>C (p.Trp641Cys)
c.1974G>C (p.Trp658Cys)
n.2138G>C
c.1845G>C (p.Trp615Cys)
5g.78116223C>TCA360185446AP3B1c.*156G>A (n.*156G>A)
c.1980G>A (p.Trp660Ter)
c.1833G>A (p.Trp611Ter)
c.1179G>A (p.Trp393Ter)
c.*1742G>A (n.*1742G>A)
c.1923G>A (p.Trp641Ter)
c.1974G>A (p.Trp658Ter)
n.2138G>A
c.1845G>A (p.Trp615Ter)
5g.78116224C>ACA360185447AP3B1c.*155G>T (n.*155G>T)
c.1979G>T (p.Trp660Leu)
c.1832G>T (p.Trp611Leu)
c.1178G>T (p.Trp393Leu)
c.*1741G>T (n.*1741G>T)
c.1922G>T (p.Trp641Leu)
c.1973G>T (p.Trp658Leu)
n.2137G>T
c.1844G>T (p.Trp615Leu)
5g.78116224C>GCA360185448AP3B1c.*155G>C (n.*155G>C)
c.1979G>C (p.Trp660Ser)
c.1832G>C (p.Trp611Ser)
c.1178G>C (p.Trp393Ser)
c.*1741G>C (n.*1741G>C)
c.1922G>C (p.Trp641Ser)
c.1973G>C (p.Trp658Ser)
n.2137G>C
c.1844G>C (p.Trp615Ser)
5g.78116224C>TCA360185451AP3B1c.*155G>A (n.*155G>A)
c.1979G>A (p.Trp660Ter)
c.1832G>A (p.Trp611Ter)
c.1178G>A (p.Trp393Ter)
c.*1741G>A (n.*1741G>A)
c.1922G>A (p.Trp641Ter)
c.1973G>A (p.Trp658Ter)
n.2137G>A
c.1844G>A (p.Trp615Ter)
5g.78116225A>CCA360185461AP3B1c.*154T>G (n.*154T>G)
c.1978T>G (p.Trp660Gly)
c.1831T>G (p.Trp611Gly)
c.1177T>G (p.Trp393Gly)
c.*1740T>G (n.*1740T>G)
c.1921T>G (p.Trp641Gly)
c.1972T>G (p.Trp658Gly)
n.2136T>G
c.1843T>G (p.Trp615Gly)
5g.78116225A>GCA360185455AP3B1c.*154T>C (n.*154T>C)
c.1978T>C (p.Trp660Arg)
c.1831T>C (p.Trp611Arg)
c.1177T>C (p.Trp393Arg)
c.*1740T>C (n.*1740T>C)
c.1921T>C (p.Trp641Arg)
c.1972T>C (p.Trp658Arg)
n.2136T>C
c.1843T>C (p.Trp615Arg)
5g.78116225A>TCA360185458AP3B1c.*154T>A (n.*154T>A)
c.1978T>A (p.Trp660Arg)
c.1831T>A (p.Trp611Arg)
c.1177T>A (p.Trp393Arg)
c.*1740T>A (n.*1740T>A)
c.1921T>A (p.Trp641Arg)
c.1972T>A (p.Trp658Arg)
n.2136T>A
c.1843T>A (p.Trp615Arg)
5g.78116226T>ACA360185463AP3B1c.*153A>T (n.*153A>T)
c.1977A>T (p.Glu659Asp)
c.1830A>T (p.Glu610Asp)
c.1176A>T (p.Glu392Asp)
c.*1739A>T (n.*1739A>T)
c.1920A>T (p.Glu640Asp)
c.1971A>T (p.Glu657Asp)
n.2135A>T
c.1842A>T (p.Glu614Asp)
5g.78116226T>CCA445102999AP3B1c.*153A>G (n.*153A>G)
c.1977A>G (p.Glu659=)
c.1830A>G (p.Glu610=)
c.1176A>G (p.Glu392=)
c.*1739A>G (n.*1739A>G)
c.1920A>G (p.Glu640=)
c.1971A>G (p.Glu657=)
n.2135A>G
c.1842A>G (p.Glu614=)
 dbSNP gnomAD v2 gnomAD v4
5g.78116226T>GCA360185466AP3B1c.*153A>C (n.*153A>C)
c.1977A>C (p.Glu659Asp)
c.1830A>C (p.Glu610Asp)
c.1176A>C (p.Glu392Asp)
c.*1739A>C (n.*1739A>C)
c.1920A>C (p.Glu640Asp)
c.1971A>C (p.Glu657Asp)
n.2135A>C
c.1842A>C (p.Glu614Asp)
5g.78116226T=CA1557301475AP3B1c.*153A= (n.*153A=)
c.1977A= (p.Glu659=)
c.1830A= (p.Glu610=)
c.1176A= (p.Glu392=)
c.*1739A= (n.*1739A=)
c.1920A= (p.Glu640=)
c.1971A= (p.Glu657=)
n.2135A=
c.1842A= (p.Glu614=)
5g.78116227T>ACA360185470AP3B1c.*152A>T (n.*152A>T)
c.1976A>T (p.Glu659Val)
c.1829A>T (p.Glu610Val)
c.1175A>T (p.Glu392Val)
c.*1738A>T (n.*1738A>T)
c.1919A>T (p.Glu640Val)
c.1970A>T (p.Glu657Val)
n.2134A>T
c.1841A>T (p.Glu614Val)
5g.78116227T>CCA360185472AP3B1c.*152A>G (n.*152A>G)
c.1976A>G (p.Glu659Gly)
c.1829A>G (p.Glu610Gly)
c.1175A>G (p.Glu392Gly)
c.*1738A>G (n.*1738A>G)
c.1919A>G (p.Glu640Gly)
c.1970A>G (p.Glu657Gly)
n.2134A>G
c.1841A>G (p.Glu614Gly)
5g.78116227T>GCA360185474AP3B1c.*152A>C (n.*152A>C)
c.1976A>C (p.Glu659Ala)
c.1829A>C (p.Glu610Ala)
c.1175A>C (p.Glu392Ala)
c.*1738A>C (n.*1738A>C)
c.1919A>C (p.Glu640Ala)
c.1970A>C (p.Glu657Ala)
n.2134A>C
c.1841A>C (p.Glu614Ala)
5g.78116228C>ACA340569AP3B1c.*151G>T (n.*151G>T)
c.1975G>T (p.Glu659Ter)
c.1828G>T (p.Glu610Ter)
c.1174G>T (p.Glu392Ter)
c.*1737G>T (n.*1737G>T)
c.1918G>T (p.Glu640Ter)
c.1969G>T (p.Glu657Ter)
n.2133G>T
c.1840G>T (p.Glu614Ter)
 ClinVar dbSNP
5g.78116228C=CA1557301483AP3B1c.*151G= (n.*151G=)
c.1975G= (p.Glu659=)
c.1828G= (p.Glu610=)
c.1174G= (p.Glu392=)
c.*1737G= (n.*1737G=)
c.1918G= (p.Glu640=)
c.1969G= (p.Glu657=)
n.2133G=
c.1840G= (p.Glu614=)
5g.78116228C>GCA360185480AP3B1c.*151G>C (n.*151G>C)
c.1975G>C (p.Glu659Gln)
c.1828G>C (p.Glu610Gln)
c.1174G>C (p.Glu392Gln)
c.*1737G>C (n.*1737G>C)
c.1918G>C (p.Glu640Gln)
c.1969G>C (p.Glu657Gln)
n.2133G>C
c.1840G>C (p.Glu614Gln)
5g.78116228C>TCA360185481AP3B1c.*151G>A (n.*151G>A)
c.1975G>A (p.Glu659Lys)
c.1828G>A (p.Glu610Lys)
c.1174G>A (p.Glu392Lys)
c.*1737G>A (n.*1737G>A)
c.1918G>A (p.Glu640Lys)
c.1969G>A (p.Glu657Lys)
n.2133G>A
c.1840G>A (p.Glu614Lys)

Number of alleles fetched