Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.1496059C>ACA424756896TPOc.2077C>A (p.Arg693=)
c.1558C>A (p.Arg520=)
c.1906C>A (p.Arg636=)
c.1864C>A (p.Arg622=)
c.501C>A
n.424+2020C>A
c.499C>A (p.Arg167=)
n.677+2020C>A
n.2078C>A
c.2113C>A (p.Arg705=)
c.1942C>A (p.Arg648=)
c.1594C>A (p.Arg532=)
 COSMIC
2g.1496059C=CA1233577881TPOc.2077C= (p.Arg693=)
c.1558C= (p.Arg520=)
c.1906C= (p.Arg636=)
c.1864C= (p.Arg622=)
c.501C=
n.424+2020C=
c.499C= (p.Arg167=)
n.677+2020C=
n.2078C=
c.2113C= (p.Arg705=)
c.1942C= (p.Arg648=)
c.1594C= (p.Arg532=)
2g.1496059C>GCA345697895TPOc.2077C>G (p.Arg693Gly)
c.1558C>G (p.Arg520Gly)
c.1906C>G (p.Arg636Gly)
c.1864C>G (p.Arg622Gly)
c.501C>G
n.424+2020C>G
c.499C>G (p.Arg167Gly)
n.677+2020C>G
n.2078C>G
c.2113C>G (p.Arg705Gly)
c.1942C>G (p.Arg648Gly)
c.1594C>G (p.Arg532Gly)
2g.1496059C>TCA116634TPOc.2077C>T (p.Arg693Trp)
c.1558C>T (p.Arg520Trp)
c.1906C>T (p.Arg636Trp)
c.1864C>T (p.Arg622Trp)
c.501C>T
n.424+2020C>T
c.499C>T (p.Arg167Trp)
n.677+2020C>T
n.2078C>T
c.2113C>T (p.Arg705Trp)
c.1942C>T (p.Arg648Trp)
c.1594C>T (p.Arg532Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496060G>ACA1511950TPOc.2078G>A (p.Arg693Gln)
c.1559G>A (p.Arg520Gln)
c.1907G>A (p.Arg636Gln)
c.1865G>A (p.Arg622Gln)
c.502G>A
n.424+2021G>A
c.500G>A (p.Arg167Gln)
n.677+2021G>A
n.2079G>A
c.2114G>A (p.Arg705Gln)
c.1943G>A (p.Arg648Gln)
c.1595G>A (p.Arg532Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496060G>CCA345697902TPOc.2078G>C (p.Arg693Pro)
c.1559G>C (p.Arg520Pro)
c.1907G>C (p.Arg636Pro)
c.1865G>C (p.Arg622Pro)
c.502G>C
n.424+2021G>C
c.500G>C (p.Arg167Pro)
n.677+2021G>C
n.2079G>C
c.2114G>C (p.Arg705Pro)
c.1943G>C (p.Arg648Pro)
c.1595G>C (p.Arg532Pro)
 ClinVar gnomAD v4
2g.1496060G=CA1233577882TPOc.2078G= (p.Arg693=)
c.1559G= (p.Arg520=)
c.1907G= (p.Arg636=)
c.1865G= (p.Arg622=)
c.502G=
n.424+2021G=
c.500G= (p.Arg167=)
n.677+2021G=
n.2079G=
c.2114G= (p.Arg705=)
c.1943G= (p.Arg648=)
c.1595G= (p.Arg532=)
2g.1496060G>TCA345697904TPOc.2078G>T (p.Arg693Leu)
c.1559G>T (p.Arg520Leu)
c.1907G>T (p.Arg636Leu)
c.1865G>T (p.Arg622Leu)
c.502G>T
n.424+2021G>T
c.500G>T (p.Arg167Leu)
n.677+2021G>T
n.2079G>T
c.2114G>T (p.Arg705Leu)
c.1943G>T (p.Arg648Leu)
c.1595G>T (p.Arg532Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.1496061G>ACA424756908TPOc.2079G>A (p.Arg693=)
c.1560G>A (p.Arg520=)
c.1908G>A (p.Arg636=)
c.1866G>A (p.Arg622=)
c.503G>A
n.424+2022G>A
c.501G>A (p.Arg167=)
n.677+2022G>A
n.2080G>A
c.2115G>A (p.Arg705=)
c.1944G>A (p.Arg648=)
c.1596G>A (p.Arg532=)
 gnomAD v4
2g.1496061G>CCA424756903TPOc.2079G>C (p.Arg693=)
c.1560G>C (p.Arg520=)
c.1908G>C (p.Arg636=)
c.1866G>C (p.Arg622=)
c.503G>C
n.424+2022G>C
c.501G>C (p.Arg167=)
n.677+2022G>C
n.2080G>C
c.2115G>C (p.Arg705=)
c.1944G>C (p.Arg648=)
c.1596G>C (p.Arg532=)
2g.1496061G>TCA424756905TPOc.2079G>T (p.Arg693=)
c.1560G>T (p.Arg520=)
c.1908G>T (p.Arg636=)
c.1866G>T (p.Arg622=)
c.503G>T
n.424+2022G>T
c.501G>T (p.Arg167=)
n.677+2022G>T
n.2080G>T
c.2115G>T (p.Arg705=)
c.1944G>T (p.Arg648=)
c.1596G>T (p.Arg532=)
2g.1496062G>ACA345697905TPOc.2080G>A (p.Val694Ile)
c.1561G>A (p.Val521Ile)
c.1909G>A (p.Val637Ile)
c.1867G>A (p.Val623Ile)
c.504G>A
n.424+2023G>A
c.502G>A (p.Val168Ile)
n.677+2023G>A
n.2081G>A
c.2116G>A (p.Val706Ile)
c.1945G>A (p.Val649Ile)
c.1597G>A (p.Val533Ile)
 dbSNP gnomAD v2
2g.1496062G>CCA345697907TPOc.2080G>C (p.Val694Leu)
c.1561G>C (p.Val521Leu)
c.1909G>C (p.Val637Leu)
c.1867G>C (p.Val623Leu)
c.504G>C
n.424+2023G>C
c.502G>C (p.Val168Leu)
n.677+2023G>C
n.2081G>C
c.2116G>C (p.Val706Leu)
c.1945G>C (p.Val649Leu)
c.1597G>C (p.Val533Leu)
2g.1496062G=CA1233577883TPOc.2080G= (p.Val694=)
c.1561G= (p.Val521=)
c.1909G= (p.Val637=)
c.1867G= (p.Val623=)
c.504G=
n.424+2023G=
c.502G= (p.Val168=)
n.677+2023G=
n.2081G=
c.2116G= (p.Val706=)
c.1945G= (p.Val649=)
c.1597G= (p.Val533=)
2g.1496062G>TCA345697909TPOc.2080G>T (p.Val694Phe)
c.1561G>T (p.Val521Phe)
c.1909G>T (p.Val637Phe)
c.1867G>T (p.Val623Phe)
c.504G>T
n.424+2023G>T
c.502G>T (p.Val168Phe)
n.677+2023G>T
n.2081G>T
c.2116G>T (p.Val706Phe)
c.1945G>T (p.Val649Phe)
c.1597G>T (p.Val533Phe)
2g.1496063T>ACA345697912TPOc.2081T>A (p.Val694Asp)
c.1562T>A (p.Val521Asp)
c.1910T>A (p.Val637Asp)
c.1868T>A (p.Val623Asp)
c.505T>A
n.424+2024T>A
c.503T>A (p.Val168Asp)
n.677+2024T>A
n.2082T>A
c.2117T>A (p.Val706Asp)
c.1946T>A (p.Val649Asp)
c.1598T>A (p.Val533Asp)
2g.1496063T>CCA345697915TPOc.2081T>C (p.Val694Ala)
c.1562T>C (p.Val521Ala)
c.1910T>C (p.Val637Ala)
c.1868T>C (p.Val623Ala)
c.505T>C
n.424+2024T>C
c.503T>C (p.Val168Ala)
n.677+2024T>C
n.2082T>C
c.2117T>C (p.Val706Ala)
c.1946T>C (p.Val649Ala)
c.1598T>C (p.Val533Ala)
2g.1496063T>GCA345697918TPOc.2081T>G (p.Val694Gly)
c.1562T>G (p.Val521Gly)
c.1910T>G (p.Val637Gly)
c.1868T>G (p.Val623Gly)
c.505T>G
n.424+2024T>G
c.503T>G (p.Val168Gly)
n.677+2024T>G
n.2082T>G
c.2117T>G (p.Val706Gly)
c.1946T>G (p.Val649Gly)
c.1598T>G (p.Val533Gly)
2g.1496064C>ACA424756913TPOc.2082C>A (p.Val694=)
c.1563C>A (p.Val521=)
c.1911C>A (p.Val637=)
c.1869C>A (p.Val623=)
c.506C>A
n.424+2025C>A
c.504C>A (p.Val168=)
n.677+2025C>A
n.2083C>A
c.2118C>A (p.Val706=)
c.1947C>A (p.Val649=)
c.1599C>A (p.Val533=)
2g.1496064C>GCA424756914TPOc.2082C>G (p.Val694=)
c.1563C>G (p.Val521=)
c.1911C>G (p.Val637=)
c.1869C>G (p.Val623=)
c.506C>G
n.424+2025C>G
c.504C>G (p.Val168=)
n.677+2025C>G
n.2083C>G
c.2118C>G (p.Val706=)
c.1947C>G (p.Val649=)
c.1599C>G (p.Val533=)
2g.1496064C>TCA424756915TPOc.2082C>T (p.Val694=)
c.1563C>T (p.Val521=)
c.1911C>T (p.Val637=)
c.1869C>T (p.Val623=)
c.506C>T
n.424+2025C>T
c.504C>T (p.Val168=)
n.677+2025C>T
n.2083C>T
c.2118C>T (p.Val706=)
c.1947C>T (p.Val649=)
c.1599C>T (p.Val533=)
2g.1496065A>CCA345697921TPOc.2083A>C (p.Ile695Leu)
c.1564A>C (p.Ile522Leu)
c.1912A>C (p.Ile638Leu)
c.1870A>C (p.Ile624Leu)
c.507A>C
n.424+2026A>C
c.505A>C (p.Ile169Leu)
n.677+2026A>C
n.2084A>C
c.2119A>C (p.Ile707Leu)
c.1948A>C (p.Ile650Leu)
c.1600A>C (p.Ile534Leu)
2g.1496065A>GCA345697925TPOc.2083A>G (p.Ile695Val)
c.1564A>G (p.Ile522Val)
c.1912A>G (p.Ile638Val)
c.1870A>G (p.Ile624Val)
c.507A>G
n.424+2026A>G
c.505A>G (p.Ile169Val)
n.677+2026A>G
n.2084A>G
c.2119A>G (p.Ile707Val)
c.1948A>G (p.Ile650Val)
c.1600A>G (p.Ile534Val)
2g.1496065A>TCA345697922TPOc.2083A>T (p.Ile695Phe)
c.1564A>T (p.Ile522Phe)
c.1912A>T (p.Ile638Phe)
c.1870A>T (p.Ile624Phe)
c.507A>T
n.424+2026A>T
c.505A>T (p.Ile169Phe)
n.677+2026A>T
n.2084A>T
c.2119A>T (p.Ile707Phe)
c.1948A>T (p.Ile650Phe)
c.1600A>T (p.Ile534Phe)
2g.1496066T>ACA345697928TPOc.2084T>A (p.Ile695Asn)
c.1565T>A (p.Ile522Asn)
c.1913T>A (p.Ile638Asn)
c.1871T>A (p.Ile624Asn)
c.508T>A
n.424+2027T>A
c.506T>A (p.Ile169Asn)
n.677+2027T>A
n.2085T>A
c.2120T>A (p.Ile707Asn)
c.1949T>A (p.Ile650Asn)
c.1601T>A (p.Ile534Asn)
2g.1496066T>CCA345697930TPOc.2084T>C (p.Ile695Thr)
c.1565T>C (p.Ile522Thr)
c.1913T>C (p.Ile638Thr)
c.1871T>C (p.Ile624Thr)
c.508T>C
n.424+2027T>C
c.506T>C (p.Ile169Thr)
n.677+2027T>C
n.2085T>C
c.2120T>C (p.Ile707Thr)
c.1949T>C (p.Ile650Thr)
c.1601T>C (p.Ile534Thr)
2g.1496066T>GCA345697932TPOc.2084T>G (p.Ile695Ser)
c.1565T>G (p.Ile522Ser)
c.1913T>G (p.Ile638Ser)
c.1871T>G (p.Ile624Ser)
c.508T>G
n.424+2027T>G
c.506T>G (p.Ile169Ser)
n.677+2027T>G
n.2085T>G
c.2120T>G (p.Ile707Ser)
c.1949T>G (p.Ile650Ser)
c.1601T>G (p.Ile534Ser)
2g.1496067C>ACA424756921TPOc.2085C>A (p.Ile695=)
c.1566C>A (p.Ile522=)
c.1914C>A (p.Ile638=)
c.1872C>A (p.Ile624=)
c.509C>A
n.424+2028C>A
c.507C>A (p.Ile169=)
n.677+2028C>A
n.2086C>A
c.2121C>A (p.Ile707=)
c.1950C>A (p.Ile650=)
c.1602C>A (p.Ile534=)
2g.1496067C=CA1233577884TPOc.2085C= (p.Ile695=)
c.1566C= (p.Ile522=)
c.1914C= (p.Ile638=)
c.1872C= (p.Ile624=)
c.509C=
n.424+2028C=
c.507C= (p.Ile169=)
n.677+2028C=
n.2086C=
c.2121C= (p.Ile707=)
c.1950C= (p.Ile650=)
c.1602C= (p.Ile534=)
2g.1496067C>GCA345697934TPOc.2085C>G (p.Ile695Met)
c.1566C>G (p.Ile522Met)
c.1914C>G (p.Ile638Met)
c.1872C>G (p.Ile624Met)
c.509C>G
n.424+2028C>G
c.507C>G (p.Ile169Met)
n.677+2028C>G
n.2086C>G
c.2121C>G (p.Ile707Met)
c.1950C>G (p.Ile650Met)
c.1602C>G (p.Ile534Met)
2g.1496067C>TCA1511951TPOc.2085C>T (p.Ile695=)
c.1566C>T (p.Ile522=)
c.1914C>T (p.Ile638=)
c.1872C>T (p.Ile624=)
c.509C>T
n.424+2028C>T
c.507C>T (p.Ile169=)
n.677+2028C>T
n.2086C>T
c.2121C>T (p.Ile707=)
c.1950C>T (p.Ile650=)
c.1602C>T (p.Ile534=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496067_1496069delinsCTGCA1233577885TPOc.2085_2087delinsCTG (p.Ile695=)
c.1566_1568delinsCTG (p.Ile522=)
c.1914_1916delinsCTG (p.Ile638=)
c.1872_1874delinsCTG (p.Ile624=)
c.509_511delinsCTG
n.424+2028_424+2030delinsCTG
c.507_509delinsCTG (p.Ile169=)
n.677+2028_677+2030delinsCTG
n.2086_2088delinsCTG
c.2121_2123delinsCTG (p.Ile707=)
c.1950_1952delinsCTG (p.Ile650=)
c.1602_1604delinsCTG (p.Ile534=)
2g.1496068T>ACA345697937TPOc.2086T>A (p.Cys696Ser)
c.1567T>A (p.Cys523Ser)
c.1915T>A (p.Cys639Ser)
c.1873T>A (p.Cys625Ser)
c.510T>A
n.424+2029T>A
c.508T>A (p.Cys170Ser)
n.677+2029T>A
n.2087T>A
c.2122T>A (p.Cys708Ser)
c.1951T>A (p.Cys651Ser)
c.1603T>A (p.Cys535Ser)
2g.1496068T>CCA345697939TPOc.2086T>C (p.Cys696Arg)
c.1567T>C (p.Cys523Arg)
c.1915T>C (p.Cys639Arg)
c.1873T>C (p.Cys625Arg)
c.510T>C
n.424+2029T>C
c.508T>C (p.Cys170Arg)
n.677+2029T>C
n.2087T>C
c.2122T>C (p.Cys708Arg)
c.1951T>C (p.Cys651Arg)
c.1603T>C (p.Cys535Arg)
2g.1496068T>GCA345697940TPOc.2086T>G (p.Cys696Gly)
c.1567T>G (p.Cys523Gly)
c.1915T>G (p.Cys639Gly)
c.1873T>G (p.Cys625Gly)
c.510T>G
n.424+2029T>G
c.508T>G (p.Cys170Gly)
n.677+2029T>G
n.2087T>G
c.2122T>G (p.Cys708Gly)
c.1951T>G (p.Cys651Gly)
c.1603T>G (p.Cys535Gly)
2g.1496070_1496071delCA1233577886TPOc.2088_2089del (p.Cys696Ter)
c.1569_1570del (p.Cys523Ter)
c.1917_1918del (p.Cys639Ter)
c.1875_1876del (p.Cys625Ter)
c.512_513del
n.424+2031_424+2032del
c.510_511del (p.Cys170Ter)
n.677+2031_677+2032del
n.2089_2090del
c.2124_2125del (p.Cys708Ter)
c.1953_1954del (p.Cys651Ter)
c.1605_1606del (p.Cys535Ter)
 dbSNP
2g.1496069G>ACA345697943TPOc.2087G>A (p.Cys696Tyr)
c.1568G>A (p.Cys523Tyr)
c.1916G>A (p.Cys639Tyr)
c.1874G>A (p.Cys625Tyr)
c.511G>A
n.424+2030G>A
c.509G>A (p.Cys170Tyr)
n.677+2030G>A
n.2088G>A
c.2123G>A (p.Cys708Tyr)
c.1952G>A (p.Cys651Tyr)
c.1604G>A (p.Cys535Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.1496069G>CCA1511952TPOc.2087G>C (p.Cys696Ser)
c.1568G>C (p.Cys523Ser)
c.1916G>C (p.Cys639Ser)
c.1874G>C (p.Cys625Ser)
c.511G>C
n.424+2030G>C
c.509G>C (p.Cys170Ser)
n.677+2030G>C
n.2088G>C
c.2123G>C (p.Cys708Ser)
c.1952G>C (p.Cys651Ser)
c.1604G>C (p.Cys535Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496069G=CA1233577887TPOc.2087G= (p.Cys696=)
c.1568G= (p.Cys523=)
c.1916G= (p.Cys639=)
c.1874G= (p.Cys625=)
c.511G=
n.424+2030G=
c.509G= (p.Cys170=)
n.677+2030G=
n.2088G=
c.2123G= (p.Cys708=)
c.1952G= (p.Cys651=)
c.1604G= (p.Cys535=)
2g.1496069G>TCA345697945TPOc.2087G>T (p.Cys696Phe)
c.1568G>T (p.Cys523Phe)
c.1916G>T (p.Cys639Phe)
c.1874G>T (p.Cys625Phe)
c.511G>T
n.424+2030G>T
c.509G>T (p.Cys170Phe)
n.677+2030G>T
n.2088G>T
c.2123G>T (p.Cys708Phe)
c.1952G>T (p.Cys651Phe)
c.1604G>T (p.Cys535Phe)
2g.1496070T>ACA345697947TPOc.2088T>A (p.Cys696Ter)
c.1569T>A (p.Cys523Ter)
c.1917T>A (p.Cys639Ter)
c.1875T>A (p.Cys625Ter)
c.512T>A
n.424+2031T>A
c.510T>A (p.Cys170Ter)
n.677+2031T>A
n.2089T>A
c.2124T>A (p.Cys708Ter)
c.1953T>A (p.Cys651Ter)
c.1605T>A (p.Cys535Ter)
2g.1496070T>CCA424756927TPOc.2088T>C (p.Cys696=)
c.1569T>C (p.Cys523=)
c.1917T>C (p.Cys639=)
c.1875T>C (p.Cys625=)
c.512T>C
n.424+2031T>C
c.510T>C (p.Cys170=)
n.677+2031T>C
n.2089T>C
c.2124T>C (p.Cys708=)
c.1953T>C (p.Cys651=)
c.1605T>C (p.Cys535=)
2g.1496070T>GCA345697949TPOc.2088T>G (p.Cys696Trp)
c.1569T>G (p.Cys523Trp)
c.1917T>G (p.Cys639Trp)
c.1875T>G (p.Cys625Trp)
c.512T>G
n.424+2031T>G
c.510T>G (p.Cys170Trp)
n.677+2031T>G
n.2089T>G
c.2124T>G (p.Cys708Trp)
c.1953T>G (p.Cys651Trp)
c.1605T>G (p.Cys535Trp)
2g.1496071G>ACA345697950TPOc.2089G>A (p.Asp697Asn)
c.1570G>A (p.Asp524Asn)
c.1918G>A (p.Asp640Asn)
c.1876G>A (p.Asp626Asn)
c.513G>A
n.424+2032G>A
c.511G>A (p.Asp171Asn)
n.677+2032G>A
n.2090G>A
c.2125G>A (p.Asp709Asn)
c.1954G>A (p.Asp652Asn)
c.1606G>A (p.Asp536Asn)
 gnomAD v4
2g.1496071G>CCA345697953TPOc.2089G>C (p.Asp697His)
c.1570G>C (p.Asp524His)
c.1918G>C (p.Asp640His)
c.1876G>C (p.Asp626His)
c.513G>C
n.424+2032G>C
c.511G>C (p.Asp171His)
n.677+2032G>C
n.2090G>C
c.2125G>C (p.Asp709His)
c.1954G>C (p.Asp652His)
c.1606G>C (p.Asp536His)
2g.1496071G=CA1233577888TPOc.2089G= (p.Asp697=)
c.1570G= (p.Asp524=)
c.1918G= (p.Asp640=)
c.1876G= (p.Asp626=)
c.513G=
n.424+2032G=
c.511G= (p.Asp171=)
n.677+2032G=
n.2090G=
c.2125G= (p.Asp709=)
c.1954G= (p.Asp652=)
c.1606G= (p.Asp536=)
2g.1496071G>TCA345697951TPOc.2089G>T (p.Asp697Tyr)
c.1570G>T (p.Asp524Tyr)
c.1918G>T (p.Asp640Tyr)
c.1876G>T (p.Asp626Tyr)
c.513G>T
n.424+2032G>T
c.511G>T (p.Asp171Tyr)
n.677+2032G>T
n.2090G>T
c.2125G>T (p.Asp709Tyr)
c.1954G>T (p.Asp652Tyr)
c.1606G>T (p.Asp536Tyr)
 dbSNP
2g.1496072A>CCA345697956TPOc.2090A>C (p.Asp697Ala)
c.1571A>C (p.Asp524Ala)
c.1919A>C (p.Asp640Ala)
c.1877A>C (p.Asp626Ala)
c.514A>C
n.424+2033A>C
c.512A>C (p.Asp171Ala)
n.677+2033A>C
n.2091A>C
c.2126A>C (p.Asp709Ala)
c.1955A>C (p.Asp652Ala)
c.1607A>C (p.Asp536Ala)
2g.1496072A>GCA345697958TPOc.2090A>G (p.Asp697Gly)
c.1571A>G (p.Asp524Gly)
c.1919A>G (p.Asp640Gly)
c.1877A>G (p.Asp626Gly)
c.514A>G
n.424+2033A>G
c.512A>G (p.Asp171Gly)
n.677+2033A>G
n.2091A>G
c.2126A>G (p.Asp709Gly)
c.1955A>G (p.Asp652Gly)
c.1607A>G (p.Asp536Gly)
2g.1496072A>TCA345697961TPOc.2090A>T (p.Asp697Val)
c.1571A>T (p.Asp524Val)
c.1919A>T (p.Asp640Val)
c.1877A>T (p.Asp626Val)
c.514A>T
n.424+2033A>T
c.512A>T (p.Asp171Val)
n.677+2033A>T
n.2091A>T
c.2126A>T (p.Asp709Val)
c.1955A>T (p.Asp652Val)
c.1607A>T (p.Asp536Val)

Number of alleles fetched