Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.121828171_121828173delinsTTGCA1490015306BBS7c.1987_1989delinsCAA (p.Gln663=)
c.256_258delinsCAA (p.Gln86=)
c.1990_1992delinsCAA (p.Gln664=)
c.2035_2037delinsCAA (p.Gln679=)
c.2032_2034delinsCAA (p.Gln678=)
c.1870_1872delinsCAA (p.Gln624=)
c.1822_1824delinsCAA (p.Gln608=)
c.1825_1827delinsCAA (p.Gln609=)
4g.121828171_121828174delinsTTGCCA1490015305BBS7c.1986_1989delinsGCAA (p.Lys662=)
c.255_258delinsGCAA (p.Lys85=)
c.1989_1992delinsGCAA (p.Lys663=)
c.2034_2037delinsGCAA (p.Lys678=)
c.2031_2034delinsGCAA (p.Lys677=)
c.1869_1872delinsGCAA (p.Lys623=)
c.1821_1824delinsGCAA (p.Lys607=)
c.1824_1827delinsGCAA (p.Lys608=)
4g.121828172T>ACA358054250BBS7c.1988A>T (p.Gln663Leu)
c.257A>T (p.Gln86Leu)
c.1991A>T (p.Gln664Leu)
c.2036A>T (p.Gln679Leu)
c.2033A>T (p.Gln678Leu)
c.1871A>T (p.Gln624Leu)
c.1823A>T (p.Gln608Leu)
c.1826A>T (p.Gln609Leu)
4g.121828172T>CCA358054251BBS7c.1988A>G (p.Gln663Arg)
c.257A>G (p.Gln86Arg)
c.1991A>G (p.Gln664Arg)
c.2036A>G (p.Gln679Arg)
c.2033A>G (p.Gln678Arg)
c.1871A>G (p.Gln624Arg)
c.1823A>G (p.Gln608Arg)
c.1826A>G (p.Gln609Arg)
4g.121828172T>GCA358054252BBS7c.1988A>C (p.Gln663Pro)
c.257A>C (p.Gln86Pro)
c.1991A>C (p.Gln664Pro)
c.2036A>C (p.Gln679Pro)
c.2033A>C (p.Gln678Pro)
c.1871A>C (p.Gln624Pro)
c.1823A>C (p.Gln608Pro)
c.1826A>C (p.Gln609Pro)
4g.121828172_121828173delCA554524254BBS7c.1987_1988del (p.Gln663ThrfsTer5)
c.256_257del (p.Gln86ThrfsTer5)
c.1990_1991del (p.Gln664ThrfsTer5)
c.2035_2036del (p.Gln679ThrfsTer5)
c.2032_2033del (p.Gln678ThrfsTer5)
c.1870_1871del (p.Gln624ThrfsTer5)
c.1822_1823del (p.Gln608ThrfsTer5)
c.1825_1826del (p.Gln609ThrfsTer5)
 dbSNP gnomAD v2 gnomAD v4
4g.121828172_121828174delinsACA337833BBS7c.1986_1988delinsT (p.Lys662AsnfsTer6)
c.255_257delinsT (p.Lys85AsnfsTer6)
c.1989_1991delinsT (p.Lys663AsnfsTer6)
c.2034_2036delinsT (p.Lys678AsnfsTer6)
c.2031_2033delinsT (p.Lys677AsnfsTer6)
c.1869_1871delinsT (p.Lys623AsnfsTer6)
c.1821_1823delinsT (p.Lys607AsnfsTer6)
c.1824_1826delinsT (p.Lys608AsnfsTer6)
 ClinVar dbSNP
4g.121828173G>ACA358054255BBS7c.1987C>T (p.Gln663Ter)
c.256C>T (p.Gln86Ter)
c.1990C>T (p.Gln664Ter)
c.2035C>T (p.Gln679Ter)
c.2032C>T (p.Gln678Ter)
c.1870C>T (p.Gln624Ter)
c.1822C>T (p.Gln608Ter)
c.1825C>T (p.Gln609Ter)
4g.121828173G>CCA358054254BBS7c.1987C>G (p.Gln663Glu)
c.256C>G (p.Gln86Glu)
c.1990C>G (p.Gln664Glu)
c.2035C>G (p.Gln679Glu)
c.2032C>G (p.Gln678Glu)
c.1870C>G (p.Gln624Glu)
c.1822C>G (p.Gln608Glu)
c.1825C>G (p.Gln609Glu)
4g.121828173G>TCA358054253BBS7c.1987C>A (p.Gln663Lys)
c.256C>A (p.Gln86Lys)
c.1990C>A (p.Gln664Lys)
c.2035C>A (p.Gln679Lys)
c.2032C>A (p.Gln678Lys)
c.1870C>A (p.Gln624Lys)
c.1822C>A (p.Gln608Lys)
c.1825C>A (p.Gln609Lys)
4g.121828174C>ACA358054256BBS7c.1986G>T (p.Lys662Asn)
c.255G>T (p.Lys85Asn)
c.1989G>T (p.Lys663Asn)
c.2034G>T (p.Lys678Asn)
c.2031G>T (p.Lys677Asn)
c.1869G>T (p.Lys623Asn)
c.1821G>T (p.Lys607Asn)
c.1824G>T (p.Lys608Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.121828174C=CA1490015307BBS7c.1986G= (p.Lys662=)
c.255G= (p.Lys85=)
c.1989G= (p.Lys663=)
c.2034G= (p.Lys678=)
c.2031G= (p.Lys677=)
c.1869G= (p.Lys623=)
c.1821G= (p.Lys607=)
c.1824G= (p.Lys608=)
4g.121828174C>GCA358054257BBS7c.1986G>C (p.Lys662Asn)
c.255G>C (p.Lys85Asn)
c.1989G>C (p.Lys663Asn)
c.2034G>C (p.Lys678Asn)
c.2031G>C (p.Lys677Asn)
c.1869G>C (p.Lys623Asn)
c.1821G>C (p.Lys607Asn)
c.1824G>C (p.Lys608Asn)
4g.121828174C>TCA440918076BBS7c.1986G>A (p.Lys662=)
c.255G>A (p.Lys85=)
c.1989G>A (p.Lys663=)
c.2034G>A (p.Lys678=)
c.2031G>A (p.Lys677=)
c.1869G>A (p.Lys623=)
c.1821G>A (p.Lys607=)
c.1824G>A (p.Lys608=)
4g.121828175T>ACA358054258BBS7c.1985A>T (p.Lys662Met)
c.254A>T (p.Lys85Met)
c.1988A>T (p.Lys663Met)
c.2033A>T (p.Lys678Met)
c.2030A>T (p.Lys677Met)
c.1868A>T (p.Lys623Met)
c.1820A>T (p.Lys607Met)
c.1823A>T (p.Lys608Met)
4g.121828175T>CCA358054260BBS7c.1985A>G (p.Lys662Arg)
c.254A>G (p.Lys85Arg)
c.1988A>G (p.Lys663Arg)
c.2033A>G (p.Lys678Arg)
c.2030A>G (p.Lys677Arg)
c.1868A>G (p.Lys623Arg)
c.1820A>G (p.Lys607Arg)
c.1823A>G (p.Lys608Arg)
4g.121828175T>GCA358054259BBS7c.1985A>C (p.Lys662Thr)
c.254A>C (p.Lys85Thr)
c.1988A>C (p.Lys663Thr)
c.2033A>C (p.Lys678Thr)
c.2030A>C (p.Lys677Thr)
c.1868A>C (p.Lys623Thr)
c.1820A>C (p.Lys607Thr)
c.1823A>C (p.Lys608Thr)
4g.121828176T>ACA358054261BBS7c.1984A>T (p.Lys662Ter)
c.253A>T (p.Lys85Ter)
c.1987A>T (p.Lys663Ter)
c.2032A>T (p.Lys678Ter)
c.2029A>T (p.Lys677Ter)
c.1867A>T (p.Lys623Ter)
c.1819A>T (p.Lys607Ter)
c.1822A>T (p.Lys608Ter)
4g.121828176T>CCA358054263BBS7c.1984A>G (p.Lys662Glu)
c.253A>G (p.Lys85Glu)
c.1987A>G (p.Lys663Glu)
c.2032A>G (p.Lys678Glu)
c.2029A>G (p.Lys677Glu)
c.1867A>G (p.Lys623Glu)
c.1819A>G (p.Lys607Glu)
c.1822A>G (p.Lys608Glu)
4g.121828176T>GCA358054262BBS7c.1984A>C (p.Lys662Gln)
c.253A>C (p.Lys85Gln)
c.1987A>C (p.Lys663Gln)
c.2032A>C (p.Lys678Gln)
c.2029A>C (p.Lys677Gln)
c.1867A>C (p.Lys623Gln)
c.1819A>C (p.Lys607Gln)
c.1822A>C (p.Lys608Gln)
4g.121828177T>ACA358054264BBS7c.1983A>T (p.Lys661Asn)
c.252A>T (p.Lys84Asn)
c.1986A>T (p.Lys662Asn)
c.2031A>T (p.Lys677Asn)
c.2028A>T (p.Lys676Asn)
c.1866A>T (p.Lys622Asn)
c.1818A>T (p.Lys606Asn)
c.1821A>T (p.Lys607Asn)
4g.121828177T>CCA440918082BBS7c.1983A>G (p.Lys661=)
c.252A>G (p.Lys84=)
c.1986A>G (p.Lys662=)
c.2031A>G (p.Lys677=)
c.2028A>G (p.Lys676=)
c.1866A>G (p.Lys622=)
c.1818A>G (p.Lys606=)
c.1821A>G (p.Lys607=)
4g.121828177T>GCA358054265BBS7c.1983A>C (p.Lys661Asn)
c.252A>C (p.Lys84Asn)
c.1986A>C (p.Lys662Asn)
c.2031A>C (p.Lys677Asn)
c.2028A>C (p.Lys676Asn)
c.1866A>C (p.Lys622Asn)
c.1818A>C (p.Lys606Asn)
c.1821A>C (p.Lys607Asn)
 dbSNP gnomAD v4
4g.121828177T=CA1490015308BBS7c.1983A= (p.Lys661=)
c.252A= (p.Lys84=)
c.1986A= (p.Lys662=)
c.2031A= (p.Lys677=)
c.2028A= (p.Lys676=)
c.1866A= (p.Lys622=)
c.1818A= (p.Lys606=)
c.1821A= (p.Lys607=)
4g.121828178T>ACA358054266BBS7c.1982A>T (p.Lys661Ile)
c.251A>T (p.Lys84Ile)
c.1985A>T (p.Lys662Ile)
c.2030A>T (p.Lys677Ile)
c.2027A>T (p.Lys676Ile)
c.1865A>T (p.Lys622Ile)
c.1817A>T (p.Lys606Ile)
c.1820A>T (p.Lys607Ile)
4g.121828178T>CCA358054267BBS7c.1982A>G (p.Lys661Arg)
c.251A>G (p.Lys84Arg)
c.1985A>G (p.Lys662Arg)
c.2030A>G (p.Lys677Arg)
c.2027A>G (p.Lys676Arg)
c.1865A>G (p.Lys622Arg)
c.1817A>G (p.Lys606Arg)
c.1820A>G (p.Lys607Arg)
4g.121828178T>GCA358054268BBS7c.1982A>C (p.Lys661Thr)
c.251A>C (p.Lys84Thr)
c.1985A>C (p.Lys662Thr)
c.2030A>C (p.Lys677Thr)
c.2027A>C (p.Lys676Thr)
c.1865A>C (p.Lys622Thr)
c.1817A>C (p.Lys606Thr)
c.1820A>C (p.Lys607Thr)
4g.121828179T>ACA358054269BBS7c.1981A>T (p.Lys661Ter)
c.250A>T (p.Lys84Ter)
c.1984A>T (p.Lys662Ter)
c.2029A>T (p.Lys677Ter)
c.2026A>T (p.Lys676Ter)
c.1864A>T (p.Lys622Ter)
c.1816A>T (p.Lys606Ter)
c.1819A>T (p.Lys607Ter)
4g.121828179T>CCA358054270BBS7c.1981A>G (p.Lys661Glu)
c.250A>G (p.Lys84Glu)
c.1984A>G (p.Lys662Glu)
c.2029A>G (p.Lys677Glu)
c.2026A>G (p.Lys676Glu)
c.1864A>G (p.Lys622Glu)
c.1816A>G (p.Lys606Glu)
c.1819A>G (p.Lys607Glu)
4g.121828179T>GCA358054271BBS7c.1981A>C (p.Lys661Gln)
c.250A>C (p.Lys84Gln)
c.1984A>C (p.Lys662Gln)
c.2029A>C (p.Lys677Gln)
c.2026A>C (p.Lys676Gln)
c.1864A>C (p.Lys622Gln)
c.1816A>C (p.Lys606Gln)
c.1819A>C (p.Lys607Gln)
4g.121828180G>ACA440918089BBS7c.1980C>T (p.Tyr660=)
c.249C>T (p.Tyr83=)
c.1983C>T (p.Tyr661=)
c.2028C>T (p.Tyr676=)
c.2025C>T (p.Tyr675=)
c.1863C>T (p.Tyr621=)
c.1815C>T (p.Tyr605=)
c.1818C>T (p.Tyr606=)
 dbSNP
4g.121828180G>CCA358054272BBS7c.1980C>G (p.Tyr660Ter)
c.249C>G (p.Tyr83Ter)
c.1983C>G (p.Tyr661Ter)
c.2028C>G (p.Tyr676Ter)
c.2025C>G (p.Tyr675Ter)
c.1863C>G (p.Tyr621Ter)
c.1815C>G (p.Tyr605Ter)
c.1818C>G (p.Tyr606Ter)
4g.121828180G=CA1490015309BBS7c.1980C= (p.Tyr660=)
c.249C= (p.Tyr83=)
c.1983C= (p.Tyr661=)
c.2028C= (p.Tyr676=)
c.2025C= (p.Tyr675=)
c.1863C= (p.Tyr621=)
c.1815C= (p.Tyr605=)
c.1818C= (p.Tyr606=)
4g.121828180G>TCA358054273BBS7c.1980C>A (p.Tyr660Ter)
c.249C>A (p.Tyr83Ter)
c.1983C>A (p.Tyr661Ter)
c.2028C>A (p.Tyr676Ter)
c.2025C>A (p.Tyr675Ter)
c.1863C>A (p.Tyr621Ter)
c.1815C>A (p.Tyr605Ter)
c.1818C>A (p.Tyr606Ter)
4g.121828181T>ACA358054274BBS7c.1979A>T (p.Tyr660Phe)
c.248A>T (p.Tyr83Phe)
c.1982A>T (p.Tyr661Phe)
c.2027A>T (p.Tyr676Phe)
c.2024A>T (p.Tyr675Phe)
c.1862A>T (p.Tyr621Phe)
c.1814A>T (p.Tyr605Phe)
c.1817A>T (p.Tyr606Phe)
4g.121828181T>CCA3064080BBS7c.1979A>G (p.Tyr660Cys)
c.248A>G (p.Tyr83Cys)
c.1982A>G (p.Tyr661Cys)
c.2027A>G (p.Tyr676Cys)
c.2024A>G (p.Tyr675Cys)
c.1862A>G (p.Tyr621Cys)
c.1814A>G (p.Tyr605Cys)
c.1817A>G (p.Tyr606Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.121828181T>GCA358054275BBS7c.1979A>C (p.Tyr660Ser)
c.248A>C (p.Tyr83Ser)
c.1982A>C (p.Tyr661Ser)
c.2027A>C (p.Tyr676Ser)
c.2024A>C (p.Tyr675Ser)
c.1862A>C (p.Tyr621Ser)
c.1814A>C (p.Tyr605Ser)
c.1817A>C (p.Tyr606Ser)
4g.121828181T=CA1490015310BBS7c.1979A= (p.Tyr660=)
c.248A= (p.Tyr83=)
c.1982A= (p.Tyr661=)
c.2027A= (p.Tyr676=)
c.2024A= (p.Tyr675=)
c.1862A= (p.Tyr621=)
c.1814A= (p.Tyr605=)
c.1817A= (p.Tyr606=)
4g.121828182_121828184dupCA2671947680BBS7c.1977_1979dup (p.Tyr660Ter)
c.246_248dup (p.Tyr83Ter)
c.1980_1982dup (p.Tyr661Ter)
c.2025_2027dup (p.Tyr676Ter)
c.2022_2024dup (p.Tyr675Ter)
c.1860_1862dup (p.Tyr621Ter)
c.1812_1814dup (p.Tyr605Ter)
c.1815_1817dup (p.Tyr606Ter)
 gnomAD v4
4g.121828182A=CA1490015311BBS7c.1978T= (p.Tyr660=)
c.247T= (p.Tyr83=)
c.1981T= (p.Tyr661=)
c.2026T= (p.Tyr676=)
c.2023T= (p.Tyr675=)
c.1861T= (p.Tyr621=)
c.1813T= (p.Tyr605=)
c.1816T= (p.Tyr606=)
4g.121828182A>CCA3064081BBS7c.1978T>G (p.Tyr660Asp)
c.247T>G (p.Tyr83Asp)
c.1981T>G (p.Tyr661Asp)
c.2026T>G (p.Tyr676Asp)
c.2023T>G (p.Tyr675Asp)
c.1861T>G (p.Tyr621Asp)
c.1813T>G (p.Tyr605Asp)
c.1816T>G (p.Tyr606Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121828182A>GCA358054276BBS7c.1978T>C (p.Tyr660His)
c.247T>C (p.Tyr83His)
c.1981T>C (p.Tyr661His)
c.2026T>C (p.Tyr676His)
c.2023T>C (p.Tyr675His)
c.1861T>C (p.Tyr621His)
c.1813T>C (p.Tyr605His)
c.1816T>C (p.Tyr606His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.121828182A>TCA358054277BBS7c.1978T>A (p.Tyr660Asn)
c.247T>A (p.Tyr83Asn)
c.1981T>A (p.Tyr661Asn)
c.2026T>A (p.Tyr676Asn)
c.2023T>A (p.Tyr675Asn)
c.1861T>A (p.Tyr621Asn)
c.1813T>A (p.Tyr605Asn)
c.1816T>A (p.Tyr606Asn)
4g.121828183T>ACA358054278BBS7c.1977A>T (p.Glu659Asp)
c.246A>T (p.Glu82Asp)
c.1980A>T (p.Glu660Asp)
c.2025A>T (p.Glu675Asp)
c.2022A>T (p.Glu674Asp)
c.1860A>T (p.Glu620Asp)
c.1812A>T (p.Glu604Asp)
c.1815A>T (p.Glu605Asp)
4g.121828183T>CCA440918096BBS7c.1977A>G (p.Glu659=)
c.246A>G (p.Glu82=)
c.1980A>G (p.Glu660=)
c.2025A>G (p.Glu675=)
c.2022A>G (p.Glu674=)
c.1860A>G (p.Glu620=)
c.1812A>G (p.Glu604=)
c.1815A>G (p.Glu605=)
4g.121828183T>GCA358054279BBS7c.1977A>C (p.Glu659Asp)
c.246A>C (p.Glu82Asp)
c.1980A>C (p.Glu660Asp)
c.2025A>C (p.Glu675Asp)
c.2022A>C (p.Glu674Asp)
c.1860A>C (p.Glu620Asp)
c.1812A>C (p.Glu604Asp)
c.1815A>C (p.Glu605Asp)
4g.121828184T>ACA358054280BBS7c.1976A>T (p.Glu659Val)
c.245A>T (p.Glu82Val)
c.1979A>T (p.Glu660Val)
c.2024A>T (p.Glu675Val)
c.2021A>T (p.Glu674Val)
c.1859A>T (p.Glu620Val)
c.1811A>T (p.Glu604Val)
c.1814A>T (p.Glu605Val)
4g.121828184T>CCA358054281BBS7c.1976A>G (p.Glu659Gly)
c.245A>G (p.Glu82Gly)
c.1979A>G (p.Glu660Gly)
c.2024A>G (p.Glu675Gly)
c.2021A>G (p.Glu674Gly)
c.1859A>G (p.Glu620Gly)
c.1811A>G (p.Glu604Gly)
c.1814A>G (p.Glu605Gly)
4g.121828184T>GCA358054282BBS7c.1976A>C (p.Glu659Ala)
c.245A>C (p.Glu82Ala)
c.1979A>C (p.Glu660Ala)
c.2024A>C (p.Glu675Ala)
c.2021A>C (p.Glu674Ala)
c.1859A>C (p.Glu620Ala)
c.1811A>C (p.Glu604Ala)
c.1814A>C (p.Glu605Ala)
4g.121828185C>ACA358054283BBS7c.1975G>T (p.Glu659Ter)
c.244G>T (p.Glu82Ter)
c.1978G>T (p.Glu660Ter)
c.2023G>T (p.Glu675Ter)
c.2020G>T (p.Glu674Ter)
c.1858G>T (p.Glu620Ter)
c.1810G>T (p.Glu604Ter)
c.1813G>T (p.Glu605Ter)

Number of alleles fetched