Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8318774C>ACA497963113ARHGEF15c.1897C>A (p.Arg633=)
c.1360C>A (p.Arg454=)
n.9C>A
c.1942C>A (p.Arg648=)
c.691C>A (p.Arg231=)
 ClinVar
17g.8318774C=CA2246260730ARHGEF15c.1897C= (p.Arg633=)
c.1360C= (p.Arg454=)
n.9C=
c.1942C= (p.Arg648=)
c.691C= (p.Arg231=)
17g.8318774C>GCA398023416ARHGEF15c.1897C>G (p.Arg633Gly)
c.1360C>G (p.Arg454Gly)
n.9C>G
c.1942C>G (p.Arg648Gly)
c.691C>G (p.Arg231Gly)
 gnomAD v4
17g.8318774C>TCA174872ARHGEF15c.1897C>T (p.Arg633Trp)
c.1360C>T (p.Arg454Trp)
n.9C>T
c.1942C>T (p.Arg648Trp)
c.691C>T (p.Arg231Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8318775G>ACA8375350ARHGEF15c.1898G>A (p.Arg633Gln)
c.1361G>A (p.Arg454Gln)
n.10G>A
c.1943G>A (p.Arg648Gln)
c.692G>A (p.Arg231Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318775G>CCA398023419ARHGEF15c.1898G>C (p.Arg633Pro)
c.1361G>C (p.Arg454Pro)
n.10G>C
c.1943G>C (p.Arg648Pro)
c.692G>C (p.Arg231Pro)
 gnomAD v4
17g.8318775G=CA2246260731ARHGEF15c.1898G= (p.Arg633=)
c.1361G= (p.Arg454=)
n.10G=
c.1943G= (p.Arg648=)
c.692G= (p.Arg231=)
17g.8318775G>TCA398023421ARHGEF15c.1898G>T (p.Arg633Leu)
c.1361G>T (p.Arg454Leu)
n.10G>T
c.1943G>T (p.Arg648Leu)
c.692G>T (p.Arg231Leu)
17g.8318776G>ACA497963117ARHGEF15c.1899G>A (p.Arg633=)
c.1362G>A (p.Arg454=)
n.11G>A
c.1944G>A (p.Arg648=)
c.693G>A (p.Arg231=)
17g.8318776G>CCA497963118ARHGEF15c.1899G>C (p.Arg633=)
c.1362G>C (p.Arg454=)
n.11G>C
c.1944G>C (p.Arg648=)
c.693G>C (p.Arg231=)
17g.8318776G>TCA497963120ARHGEF15c.1899G>T (p.Arg633=)
c.1362G>T (p.Arg454=)
n.11G>T
c.1944G>T (p.Arg648=)
c.693G>T (p.Arg231=)
17g.8318777C>ACA398023423ARHGEF15c.1900C>A (p.Arg634Ser)
c.1363C>A (p.Arg455Ser)
n.12C>A
c.1945C>A (p.Arg649Ser)
c.694C>A (p.Arg232Ser)
 COSMIC
17g.8318777C=CA2246260732ARHGEF15c.1900C= (p.Arg634=)
c.1363C= (p.Arg455=)
n.12C=
c.1945C= (p.Arg649=)
c.694C= (p.Arg232=)
17g.8318777C>GCA398023425ARHGEF15c.1900C>G (p.Arg634Gly)
c.1363C>G (p.Arg455Gly)
n.12C>G
c.1945C>G (p.Arg649Gly)
c.694C>G (p.Arg232Gly)
17g.8318777C>TCA8375351ARHGEF15c.1900C>T (p.Arg634Cys)
c.1363C>T (p.Arg455Cys)
n.12C>T
c.1945C>T (p.Arg649Cys)
c.694C>T (p.Arg232Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318778G>ACA398023428ARHGEF15c.1901G>A (p.Arg634His)
c.1364G>A (p.Arg455His)
n.13G>A
c.1946G>A (p.Arg649His)
c.695G>A (p.Arg232His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.8318778G>CCA398023432ARHGEF15c.1901G>C (p.Arg634Pro)
c.1364G>C (p.Arg455Pro)
n.13G>C
c.1946G>C (p.Arg649Pro)
c.695G>C (p.Arg232Pro)
17g.8318778G=CA2246260733ARHGEF15c.1901G= (p.Arg634=)
c.1364G= (p.Arg455=)
n.13G=
c.1946G= (p.Arg649=)
c.695G= (p.Arg232=)
17g.8318778G>TCA398023430ARHGEF15c.1901G>T (p.Arg634Leu)
c.1364G>T (p.Arg455Leu)
n.13G>T
c.1946G>T (p.Arg649Leu)
c.695G>T (p.Arg232Leu)
 dbSNP gnomAD v4
17g.8318779C>ACA497963123ARHGEF15c.1902C>A (p.Arg634=)
c.1365C>A (p.Arg455=)
n.14C>A
c.1947C>A (p.Arg649=)
c.696C>A (p.Arg232=)
17g.8318779C>GCA497963124ARHGEF15c.1902C>G (p.Arg634=)
c.1365C>G (p.Arg455=)
n.14C>G
c.1947C>G (p.Arg649=)
c.696C>G (p.Arg232=)
17g.8318779C>TCA497963126ARHGEF15c.1902C>T (p.Arg634=)
c.1365C>T (p.Arg455=)
n.14C>T
c.1947C>T (p.Arg649=)
c.696C>T (p.Arg232=)
 ClinVar dbSNP
17g.8318780C>ACA398023433ARHGEF15c.1903C>A (p.Leu635Met)
c.1366C>A (p.Leu456Met)
n.15C>A
c.1948C>A (p.Leu650Met)
c.697C>A (p.Leu233Met)
17g.8318780C>GCA398023434ARHGEF15c.1903C>G (p.Leu635Val)
c.1366C>G (p.Leu456Val)
n.15C>G
c.1948C>G (p.Leu650Val)
c.697C>G (p.Leu233Val)
17g.8318780C>TCA497963127ARHGEF15c.1903C>T (p.Leu635=)
c.1366C>T (p.Leu456=)
n.15C>T
c.1948C>T (p.Leu650=)
c.697C>T (p.Leu233=)
 gnomAD v4
17g.8318781T>ACA398023436ARHGEF15c.1904T>A (p.Leu635Gln)
c.1367T>A (p.Leu456Gln)
n.16T>A
c.1949T>A (p.Leu650Gln)
c.698T>A (p.Leu233Gln)
17g.8318781T>CCA398023437ARHGEF15c.1904T>C (p.Leu635Pro)
c.1367T>C (p.Leu456Pro)
n.16T>C
c.1949T>C (p.Leu650Pro)
c.698T>C (p.Leu233Pro)
17g.8318781T>GCA398023439ARHGEF15c.1904T>G (p.Leu635Arg)
c.1367T>G (p.Leu456Arg)
n.16T>G
c.1949T>G (p.Leu650Arg)
c.698T>G (p.Leu233Arg)
17g.8318782G>ACA497963129ARHGEF15c.1905G>A (p.Leu635=)
c.1368G>A (p.Leu456=)
n.17G>A
c.1950G>A (p.Leu650=)
c.699G>A (p.Leu233=)
17g.8318782G>CCA497963131ARHGEF15c.1905G>C (p.Leu635=)
c.1368G>C (p.Leu456=)
n.17G>C
c.1950G>C (p.Leu650=)
c.699G>C (p.Leu233=)
17g.8318782G>TCA497963132ARHGEF15c.1905G>T (p.Leu635=)
c.1368G>T (p.Leu456=)
n.17G>T
c.1950G>T (p.Leu650=)
c.699G>T (p.Leu233=)
17g.8318783G>ACA398023441ARHGEF15c.1906G>A (p.Glu636Lys)
c.1369G>A (p.Glu457Lys)
n.18G>A
c.1951G>A (p.Glu651Lys)
c.700G>A (p.Glu234Lys)
17g.8318783G>CCA398023443ARHGEF15c.1906G>C (p.Glu636Gln)
c.1369G>C (p.Glu457Gln)
n.18G>C
c.1951G>C (p.Glu651Gln)
c.700G>C (p.Glu234Gln)
17g.8318783G>TCA398023445ARHGEF15c.1906G>T (p.Glu636Ter)
c.1369G>T (p.Glu457Ter)
n.18G>T
c.1951G>T (p.Glu651Ter)
c.700G>T (p.Glu234Ter)
 gnomAD v4
17g.8318784A>CCA398023447ARHGEF15c.1907A>C (p.Glu636Ala)
c.1370A>C (p.Glu457Ala)
n.19A>C
c.1952A>C (p.Glu651Ala)
c.701A>C (p.Glu234Ala)
17g.8318784A>GCA398023449ARHGEF15c.1907A>G (p.Glu636Gly)
c.1370A>G (p.Glu457Gly)
n.19A>G
c.1952A>G (p.Glu651Gly)
c.701A>G (p.Glu234Gly)
17g.8318784A>TCA398023451ARHGEF15c.1907A>T (p.Glu636Val)
c.1370A>T (p.Glu457Val)
n.19A>T
c.1952A>T (p.Glu651Val)
c.701A>T (p.Glu234Val)
17g.8318785A>CCA398023453ARHGEF15c.1908A>C (p.Glu636Asp)
c.1371A>C (p.Glu457Asp)
n.20A>C
c.1953A>C (p.Glu651Asp)
c.702A>C (p.Glu234Asp)
17g.8318785A>GCA497963136ARHGEF15c.1908A>G (p.Glu636=)
c.1371A>G (p.Glu457=)
n.20A>G
c.1953A>G (p.Glu651=)
c.702A>G (p.Glu234=)
17g.8318785A>TCA398023454ARHGEF15c.1908A>T (p.Glu636Asp)
c.1371A>T (p.Glu457Asp)
n.20A>T
c.1953A>T (p.Glu651Asp)
c.702A>T (p.Glu234Asp)
17g.8318786T>ACA398023456ARHGEF15c.1909T>A (p.Phe637Ile)
c.1372T>A (p.Phe458Ile)
n.21T>A
c.1954T>A (p.Phe652Ile)
c.703T>A (p.Phe235Ile)
17g.8318786T>CCA398023460ARHGEF15c.1909T>C (p.Phe637Leu)
c.1372T>C (p.Phe458Leu)
n.21T>C
c.1954T>C (p.Phe652Leu)
c.703T>C (p.Phe235Leu)
17g.8318786T>GCA398023458ARHGEF15c.1909T>G (p.Phe637Val)
c.1372T>G (p.Phe458Val)
n.21T>G
c.1954T>G (p.Phe652Val)
c.703T>G (p.Phe235Val)
17g.8318787T>ACA398023462ARHGEF15c.1910T>A (p.Phe637Tyr)
c.1373T>A (p.Phe458Tyr)
n.22T>A
c.1955T>A (p.Phe652Tyr)
c.704T>A (p.Phe235Tyr)
17g.8318787T>CCA398023464ARHGEF15c.1910T>C (p.Phe637Ser)
c.1373T>C (p.Phe458Ser)
n.22T>C
c.1955T>C (p.Phe652Ser)
c.704T>C (p.Phe235Ser)
17g.8318787T>GCA398023466ARHGEF15c.1910T>G (p.Phe637Cys)
c.1373T>G (p.Phe458Cys)
n.22T>G
c.1955T>G (p.Phe652Cys)
c.704T>G (p.Phe235Cys)
17g.8318788C>ACA398023467ARHGEF15c.1911C>A (p.Phe637Leu)
c.1374C>A (p.Phe458Leu)
n.23C>A
c.1956C>A (p.Phe652Leu)
c.705C>A (p.Phe235Leu)
17g.8318788C>GCA398023472ARHGEF15c.1911C>G (p.Phe637Leu)
c.1374C>G (p.Phe458Leu)
n.23C>G
c.1956C>G (p.Phe652Leu)
c.705C>G (p.Phe235Leu)
 gnomAD v3 gnomAD v4
17g.8318788C>TCA497963146ARHGEF15c.1911C>T (p.Phe637=)
c.1374C>T (p.Phe458=)
n.23C>T
c.1956C>T (p.Phe652=)
c.705C>T (p.Phe235=)
17g.8318789C>ACA398023474ARHGEF15c.1912C>A (p.Gln638Lys)
c.1375C>A (p.Gln459Lys)
n.24C>A
c.1957C>A (p.Gln653Lys)
c.706C>A (p.Gln236Lys)
17g.8318789C=CA2246260734ARHGEF15c.1912C= (p.Gln638=)
c.1375C= (p.Gln459=)
n.24C=
c.1957C= (p.Gln653=)
c.706C= (p.Gln236=)
17g.8318789C>GCA8375352ARHGEF15c.1912C>G (p.Gln638Glu)
c.1375C>G (p.Gln459Glu)
n.24C>G
c.1957C>G (p.Gln653Glu)
c.706C>G (p.Gln236Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318789C>TCA398023478ARHGEF15c.1912C>T (p.Gln638Ter)
c.1375C>T (p.Gln459Ter)
n.24C>T
c.1957C>T (p.Gln653Ter)
c.706C>T (p.Gln236Ter)
17g.8318790A=CA2246260735ARHGEF15c.1913A= (p.Gln638=)
c.1376A= (p.Gln459=)
n.25A=
c.1958A= (p.Gln653=)
c.707A= (p.Gln236=)
17g.8318790A>CCA398023480ARHGEF15c.1913A>C (p.Gln638Pro)
c.1376A>C (p.Gln459Pro)
n.25A>C
c.1958A>C (p.Gln653Pro)
c.707A>C (p.Gln236Pro)
17g.8318790A>GCA8375353ARHGEF15c.1913A>G (p.Gln638Arg)
c.1376A>G (p.Gln459Arg)
n.25A>G
c.1958A>G (p.Gln653Arg)
c.707A>G (p.Gln236Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318790A>TCA398023483ARHGEF15c.1913A>T (p.Gln638Leu)
c.1376A>T (p.Gln459Leu)
n.25A>T
c.1958A>T (p.Gln653Leu)
c.707A>T (p.Gln236Leu)
17g.8318791G>ACA497963148ARHGEF15c.1914G>A (p.Gln638=)
c.1377G>A (p.Gln459=)
n.26G>A
c.1959G>A (p.Gln653=)
c.708G>A (p.Gln236=)
 gnomAD v4
17g.8318791G>CCA398023485ARHGEF15c.1914G>C (p.Gln638His)
c.1377G>C (p.Gln459His)
n.26G>C
c.1959G>C (p.Gln653His)
c.708G>C (p.Gln236His)
17g.8318791G>TCA398023487ARHGEF15c.1914G>T (p.Gln638His)
c.1377G>T (p.Gln459His)
n.26G>T
c.1959G>T (p.Gln653His)
c.708G>T (p.Gln236His)
 ClinVar dbSNP
17g.8318792G>ACA398023490ARHGEF15c.1915G>A (p.Gly639Arg)
c.1378G>A (p.Gly460Arg)
n.27G>A
c.1960G>A (p.Gly654Arg)
c.709G>A (p.Gly237Arg)
17g.8318792G>CCA398023493ARHGEF15c.1915G>C (p.Gly639Arg)
c.1378G>C (p.Gly460Arg)
n.27G>C
c.1960G>C (p.Gly654Arg)
c.709G>C (p.Gly237Arg)
17g.8318792G>TCA398023492ARHGEF15c.1915G>T (p.Gly639Ter)
c.1378G>T (p.Gly460Ter)
n.27G>T
c.1960G>T (p.Gly654Ter)
c.709G>T (p.Gly237Ter)
17g.8318793G>ACA398023496ARHGEF15c.1916G>A (p.Gly639Glu)
c.1379G>A (p.Gly460Glu)
n.28G>A
c.1961G>A (p.Gly654Glu)
c.710G>A (p.Gly237Glu)
17g.8318793G>CCA398023498ARHGEF15c.1916G>C (p.Gly639Ala)
c.1379G>C (p.Gly460Ala)
n.28G>C
c.1961G>C (p.Gly654Ala)
c.710G>C (p.Gly237Ala)
17g.8318793G>TCA398023499ARHGEF15c.1916G>T (p.Gly639Val)
c.1379G>T (p.Gly460Val)
n.28G>T
c.1961G>T (p.Gly654Val)
c.710G>T (p.Gly237Val)
 gnomAD v4
17g.8318794A=CA2246260736ARHGEF15c.1917A= (p.Gly639=)
c.1380A= (p.Gly460=)
n.29A=
c.1962A= (p.Gly654=)
c.711A= (p.Gly237=)
17g.8318794A>CCA497963152ARHGEF15c.1917A>C (p.Gly639=)
c.1380A>C (p.Gly460=)
n.29A>C
c.1962A>C (p.Gly654=)
c.711A>C (p.Gly237=)
17g.8318794A>GCA497963153ARHGEF15c.1917A>G (p.Gly639=)
c.1380A>G (p.Gly460=)
n.29A>G
c.1962A>G (p.Gly654=)
c.711A>G (p.Gly237=)
 dbSNP gnomAD v3 gnomAD v4
17g.8318794A>TCA497963156ARHGEF15c.1917A>T (p.Gly639=)
c.1380A>T (p.Gly460=)
n.29A>T
c.1962A>T (p.Gly654=)
c.711A>T (p.Gly237=)
17g.8318795G>ACA8375354ARHGEF15c.1918G>A (p.Glu640Lys)
c.1381G>A (p.Glu461Lys)
n.30G>A
c.1963G>A (p.Glu655Lys)
c.712G>A (p.Glu238Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318795G>CCA8375355ARHGEF15c.1918G>C (p.Glu640Gln)
c.1381G>C (p.Glu461Gln)
n.30G>C
c.1963G>C (p.Glu655Gln)
c.712G>C (p.Glu238Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318795G=CA2246260737ARHGEF15c.1918G= (p.Glu640=)
c.1381G= (p.Glu461=)
n.30G=
c.1963G= (p.Glu655=)
c.712G= (p.Glu238=)
17g.8318795G>TCA398023501ARHGEF15c.1918G>T (p.Glu640Ter)
c.1381G>T (p.Glu461Ter)
n.30G>T
c.1963G>T (p.Glu655Ter)
c.712G>T (p.Glu238Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.8318796A>CCA398023502ARHGEF15c.1919A>C (p.Glu640Ala)
c.1382A>C (p.Glu461Ala)
n.31A>C
c.1964A>C (p.Glu655Ala)
c.713A>C (p.Glu238Ala)
 gnomAD v4
17g.8318796A>GCA398023504ARHGEF15c.1919A>G (p.Glu640Gly)
c.1382A>G (p.Glu461Gly)
n.31A>G
c.1964A>G (p.Glu655Gly)
c.713A>G (p.Glu238Gly)
17g.8318796A>TCA398023506ARHGEF15c.1919A>T (p.Glu640Val)
c.1382A>T (p.Glu461Val)
n.31A>T
c.1964A>T (p.Glu655Val)
c.713A>T (p.Glu238Val)
17g.8318797G>ACA497963161ARHGEF15c.1920G>A (p.Glu640=)
c.1383G>A (p.Glu461=)
n.32G>A
c.1965G>A (p.Glu655=)
c.714G>A (p.Glu238=)
17g.8318797G>CCA398023508ARHGEF15c.1920G>C (p.Glu640Asp)
c.1383G>C (p.Glu461Asp)
n.32G>C
c.1965G>C (p.Glu655Asp)
c.714G>C (p.Glu238Asp)
 gnomAD v4
17g.8318797G>TCA398023510ARHGEF15c.1920G>T (p.Glu640Asp)
c.1383G>T (p.Glu461Asp)
n.32G>T
c.1965G>T (p.Glu655Asp)
c.714G>T (p.Glu238Asp)
17g.8318798C>ACA398023512ARHGEF15c.1921C>A (p.Leu641Met)
c.1384C>A (p.Leu462Met)
n.33C>A
c.1966C>A (p.Leu656Met)
c.715C>A (p.Leu239Met)
17g.8318798C=CA2246260738ARHGEF15c.1921C= (p.Leu641=)
c.1384C= (p.Leu462=)
n.33C=
c.1966C= (p.Leu656=)
c.715C= (p.Leu239=)
17g.8318798C>GCA398023511ARHGEF15c.1921C>G (p.Leu641Val)
c.1384C>G (p.Leu462Val)
n.33C>G
c.1966C>G (p.Leu656Val)
c.715C>G (p.Leu239Val)
 dbSNP gnomAD v4
17g.8318798C>TCA497963162ARHGEF15c.1921C>T (p.Leu641=)
c.1384C>T (p.Leu462=)
n.33C>T
c.1966C>T (p.Leu656=)
c.715C>T (p.Leu239=)
17g.8318799T>ACA398023514ARHGEF15c.1922T>A (p.Leu641Gln)
c.1385T>A (p.Leu462Gln)
n.34T>A
c.1967T>A (p.Leu656Gln)
c.716T>A (p.Leu239Gln)
17g.8318799T>CCA398023517ARHGEF15c.1922T>C (p.Leu641Pro)
c.1385T>C (p.Leu462Pro)
n.34T>C
c.1967T>C (p.Leu656Pro)
c.716T>C (p.Leu239Pro)
17g.8318799T>GCA398023516ARHGEF15c.1922T>G (p.Leu641Arg)
c.1385T>G (p.Leu462Arg)
n.34T>G
c.1967T>G (p.Leu656Arg)
c.716T>G (p.Leu239Arg)
17g.8318800G>ACA497963166ARHGEF15c.1923G>A (p.Leu641=)
c.1386G>A (p.Leu462=)
n.35G>A
c.1968G>A (p.Leu656=)
c.717G>A (p.Leu239=)
 gnomAD v4
17g.8318800G>CCA497963167ARHGEF15c.1923G>C (p.Leu641=)
c.1386G>C (p.Leu462=)
n.35G>C
c.1968G>C (p.Leu656=)
c.717G>C (p.Leu239=)
17g.8318800G>TCA497963168ARHGEF15c.1923G>T (p.Leu641=)
c.1386G>T (p.Leu462=)
n.35G>T
c.1968G>T (p.Leu656=)
c.717G>T (p.Leu239=)
17g.8318801A>CCA398023519ARHGEF15c.1924A>C (p.Thr642Pro)
c.1387A>C (p.Thr463Pro)
n.36A>C
c.1969A>C (p.Thr657Pro)
c.718A>C (p.Thr240Pro)
17g.8318801A>GCA398023521ARHGEF15c.1924A>G (p.Thr642Ala)
c.1387A>G (p.Thr463Ala)
n.36A>G
c.1969A>G (p.Thr657Ala)
c.718A>G (p.Thr240Ala)
17g.8318801A>TCA398023523ARHGEF15c.1924A>T (p.Thr642Ser)
c.1387A>T (p.Thr463Ser)
n.36A>T
c.1969A>T (p.Thr657Ser)
c.718A>T (p.Thr240Ser)
17g.8318802C>ACA398023526ARHGEF15c.1925C>A (p.Thr642Asn)
c.1388C>A (p.Thr463Asn)
n.37C>A
c.1970C>A (p.Thr657Asn)
c.719C>A (p.Thr240Asn)
17g.8318802C>GCA398023528ARHGEF15c.1925C>G (p.Thr642Ser)
c.1388C>G (p.Thr463Ser)
n.37C>G
c.1970C>G (p.Thr657Ser)
c.719C>G (p.Thr240Ser)
17g.8318802C>TCA398023529ARHGEF15c.1925C>T (p.Thr642Ile)
c.1388C>T (p.Thr463Ile)
n.37C>T
c.1970C>T (p.Thr657Ile)
c.719C>T (p.Thr240Ile)
 COSMIC
17g.8318803T>ACA497963170ARHGEF15c.1926T>A (p.Thr642=)
c.1389T>A (p.Thr463=)
n.38T>A
c.1971T>A (p.Thr657=)
c.720T>A (p.Thr240=)
 gnomAD v3 gnomAD v4
17g.8318803T>CCA497963171ARHGEF15c.1926T>C (p.Thr642=)
c.1389T>C (p.Thr463=)
n.38T>C
c.1971T>C (p.Thr657=)
c.720T>C (p.Thr240=)
 dbSNP gnomAD v4
17g.8318803T>GCA497963172ARHGEF15c.1926T>G (p.Thr642=)
c.1389T>G (p.Thr463=)
n.38T>G
c.1971T>G (p.Thr657=)
c.720T>G (p.Thr240=)
17g.8318803T=CA2246260739ARHGEF15c.1926T= (p.Thr642=)
c.1389T= (p.Thr463=)
n.38T=
c.1971T= (p.Thr657=)
c.720T= (p.Thr240=)
17g.8318804G>ACA398023530ARHGEF15c.1927G>A (p.Glu643Lys)
c.1390G>A (p.Glu464Lys)
n.39G>A
c.1972G>A (p.Glu658Lys)
c.721G>A (p.Glu241Lys)
 ClinVar
17g.8318804G>CCA398023532ARHGEF15c.1927G>C (p.Glu643Gln)
c.1390G>C (p.Glu464Gln)
n.39G>C
c.1972G>C (p.Glu658Gln)
c.721G>C (p.Glu241Gln)
17g.8318804G>TCA398023534ARHGEF15c.1927G>T (p.Glu643Ter)
c.1390G>T (p.Glu464Ter)
n.39G>T
c.1972G>T (p.Glu658Ter)
c.721G>T (p.Glu241Ter)
 COSMIC
17g.8318805A=CA2246260740ARHGEF15c.1928A= (p.Glu643=)
c.1391A= (p.Glu464=)
n.40A=
c.1973A= (p.Glu658=)
c.722A= (p.Glu241=)
17g.8318805A>CCA398023536ARHGEF15c.1928A>C (p.Glu643Ala)
c.1391A>C (p.Glu464Ala)
n.40A>C
c.1973A>C (p.Glu658Ala)
c.722A>C (p.Glu241Ala)
 dbSNP
17g.8318805A>GCA398023538ARHGEF15c.1928A>G (p.Glu643Gly)
c.1391A>G (p.Glu464Gly)
n.40A>G
c.1973A>G (p.Glu658Gly)
c.722A>G (p.Glu241Gly)
17g.8318805A>TCA398023540ARHGEF15c.1928A>T (p.Glu643Val)
c.1391A>T (p.Glu464Val)
n.40A>T
c.1973A>T (p.Glu658Val)
c.722A>T (p.Glu241Val)
17g.8318806G>ACA497963173ARHGEF15c.1929G>A (p.Glu643=)
c.1392G>A (p.Glu464=)
n.41G>A
c.1974G>A (p.Glu658=)
c.723G>A (p.Glu241=)
 ClinVar dbSNP
17g.8318806G>CCA398023541ARHGEF15c.1929G>C (p.Glu643Asp)
c.1392G>C (p.Glu464Asp)
n.41G>C
c.1974G>C (p.Glu658Asp)
c.723G>C (p.Glu241Asp)
17g.8318806G>TCA398023542ARHGEF15c.1929G>T (p.Glu643Asp)
c.1392G>T (p.Glu464Asp)
n.41G>T
c.1974G>T (p.Glu658Asp)
c.723G>T (p.Glu241Asp)
17g.8318807T>ACA398023545ARHGEF15c.1930T>A (p.Leu644Ile)
c.1393T>A (p.Leu465Ile)
n.42T>A
c.1975T>A (p.Leu659Ile)
c.724T>A (p.Leu242Ile)
17g.8318807T>CCA497963174ARHGEF15c.1930T>C (p.Leu644=)
c.1393T>C (p.Leu465=)
n.42T>C
c.1975T>C (p.Leu659=)
c.724T>C (p.Leu242=)
 COSMIC
17g.8318807T>GCA398023547ARHGEF15c.1930T>G (p.Leu644Val)
c.1393T>G (p.Leu465Val)
n.42T>G
c.1975T>G (p.Leu659Val)
c.724T>G (p.Leu242Val)
17g.8318808T>ACA398023549ARHGEF15c.1931T>A (p.Leu644Ter)
c.1394T>A (p.Leu465Ter)
n.43T>A
c.1976T>A (p.Leu659Ter)
c.725T>A (p.Leu242Ter)
17g.8318808T>CCA398023551ARHGEF15c.1931T>C (p.Leu644Ser)
c.1394T>C (p.Leu465Ser)
n.43T>C
c.1976T>C (p.Leu659Ser)
c.725T>C (p.Leu242Ser)
17g.8318808T>GCA398023553ARHGEF15c.1931T>G (p.Leu644Ter)
c.1394T>G (p.Leu465Ter)
n.43T>G
c.1976T>G (p.Leu659Ter)
c.725T>G (p.Leu242Ter)
17g.8318809A>CCA398023555ARHGEF15c.1932A>C (p.Leu644Phe)
c.1395A>C (p.Leu465Phe)
n.44A>C
c.1977A>C (p.Leu659Phe)
c.726A>C (p.Leu242Phe)
17g.8318809A>GCA497963175ARHGEF15c.1932A>G (p.Leu644=)
c.1395A>G (p.Leu465=)
n.44A>G
c.1977A>G (p.Leu659=)
c.726A>G (p.Leu242=)
17g.8318809A>TCA398023557ARHGEF15c.1932A>T (p.Leu644Phe)
c.1395A>T (p.Leu465Phe)
n.44A>T
c.1977A>T (p.Leu659Phe)
c.726A>T (p.Leu242Phe)
17g.8318809_8318810delinsAGCA2246260741ARHGEF15c.1932_1933delinsAG (p.Leu644=)
c.1395_1396delinsAG (p.Leu465=)
n.44_45delinsAG
c.1977_1978delinsAG (p.Leu659=)
c.726_727delinsAG (p.Leu242=)
17g.8318810G>ACA398023559ARHGEF15c.1933G>A (p.Gly645Arg)
c.1396G>A (p.Gly466Arg)
n.45G>A
c.1978G>A (p.Gly660Arg)
c.727G>A (p.Gly243Arg)
17g.8318810G>CCA398023560ARHGEF15c.1933G>C (p.Gly645Arg)
c.1396G>C (p.Gly466Arg)
n.45G>C
c.1978G>C (p.Gly660Arg)
c.727G>C (p.Gly243Arg)
17g.8318810G>TCA398023561ARHGEF15c.1933G>T (p.Gly645Trp)
c.1396G>T (p.Gly466Trp)
n.45G>T
c.1978G>T (p.Gly660Trp)
c.727G>T (p.Gly243Trp)
 gnomAD v4
17g.8318812delCA2246260742ARHGEF15c.1935del (p.Cys646AlafsTer?)
c.1398del (p.Cys467AlafsTer?)
n.47del
c.1980del (p.Cys661AlafsTer?)
c.729del (p.Cys244AlafsTer?)
 dbSNP
17g.8318811G>ACA8375356ARHGEF15c.1934G>A (p.Gly645Glu)
c.1397G>A (p.Gly466Glu)
n.46G>A
c.1979G>A (p.Gly660Glu)
c.728G>A (p.Gly243Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318811G>CCA398023562ARHGEF15c.1934G>C (p.Gly645Ala)
c.1397G>C (p.Gly466Ala)
n.46G>C
c.1979G>C (p.Gly660Ala)
c.728G>C (p.Gly243Ala)
17g.8318811G=CA2246260743ARHGEF15c.1934G= (p.Gly645=)
c.1397G= (p.Gly466=)
n.46G=
c.1979G= (p.Gly660=)
c.728G= (p.Gly243=)
17g.8318811G>TCA398023563ARHGEF15c.1934G>T (p.Gly645Val)
c.1397G>T (p.Gly466Val)
n.46G>T
c.1979G>T (p.Gly660Val)
c.728G>T (p.Gly243Val)
17g.8318812G>ACA497963020ARHGEF15c.1935G>A (p.Gly645=)
c.1398G>A (p.Gly466=)
n.47G>A
c.1980G>A (p.Gly660=)
c.729G>A (p.Gly243=)
17g.8318812G>CCA497963023ARHGEF15c.1935G>C (p.Gly645=)
c.1398G>C (p.Gly466=)
n.47G>C
c.1980G>C (p.Gly660=)
c.729G>C (p.Gly243=)
17g.8318812G>TCA497963025ARHGEF15c.1935G>T (p.Gly645=)
c.1398G>T (p.Gly466=)
n.47G>T
c.1980G>T (p.Gly660=)
c.729G>T (p.Gly243=)
 gnomAD v4
17g.8318813T>ACA398023566ARHGEF15c.1936T>A (p.Cys646Ser)
c.1399T>A (p.Cys467Ser)
n.48T>A
c.1981T>A (p.Cys661Ser)
c.730T>A (p.Cys244Ser)
17g.8318813T>CCA398023564ARHGEF15c.1936T>C (p.Cys646Arg)
c.1399T>C (p.Cys467Arg)
n.48T>C
c.1981T>C (p.Cys661Arg)
c.730T>C (p.Cys244Arg)
 COSMIC
17g.8318813T>GCA398023565ARHGEF15c.1936T>G (p.Cys646Gly)
c.1399T>G (p.Cys467Gly)
n.48T>G
c.1981T>G (p.Cys661Gly)
c.730T>G (p.Cys244Gly)
17g.8318814G>ACA398023567ARHGEF15c.1937G>A (p.Cys646Tyr)
c.1400G>A (p.Cys467Tyr)
n.49G>A
c.1982G>A (p.Cys661Tyr)
c.731G>A (p.Cys244Tyr)
17g.8318814G>CCA398023568ARHGEF15c.1937G>C (p.Cys646Ser)
c.1400G>C (p.Cys467Ser)
n.49G>C
c.1982G>C (p.Cys661Ser)
c.731G>C (p.Cys244Ser)
17g.8318814G>TCA398023569ARHGEF15c.1937G>T (p.Cys646Phe)
c.1400G>T (p.Cys467Phe)
n.49G>T
c.1982G>T (p.Cys661Phe)
c.731G>T (p.Cys244Phe)
17g.8318815C>ACA398023570ARHGEF15c.1938C>A (p.Cys646Ter)
c.1401C>A (p.Cys467Ter)
n.50C>A
c.1983C>A (p.Cys661Ter)
c.732C>A (p.Cys244Ter)
17g.8318815C>GCA398023571ARHGEF15c.1938C>G (p.Cys646Trp)
c.1401C>G (p.Cys467Trp)
n.50C>G
c.1983C>G (p.Cys661Trp)
c.732C>G (p.Cys244Trp)
17g.8318815C>TCA497963036ARHGEF15c.1938C>T (p.Cys646=)
c.1401C>T (p.Cys467=)
n.50C>T
c.1983C>T (p.Cys661=)
c.732C>T (p.Cys244=)
17g.8318816C>ACA497963038ARHGEF15c.1939C>A (p.Arg647=)
c.1402C>A (p.Arg468=)
n.51C>A
c.1984C>A (p.Arg662=)
c.733C>A (p.Arg245=)
 gnomAD v3 gnomAD v4
17g.8318816C=CA2246260744ARHGEF15c.1939C= (p.Arg647=)
c.1402C= (p.Arg468=)
n.51C=
c.1984C= (p.Arg662=)
c.733C= (p.Arg245=)
17g.8318816C>GCA398023572ARHGEF15c.1939C>G (p.Arg647Gly)
c.1402C>G (p.Arg468Gly)
n.51C>G
c.1984C>G (p.Arg662Gly)
c.733C>G (p.Arg245Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.8318816C>TCA287572403ARHGEF15c.1939C>T (p.Arg647Trp)
c.1402C>T (p.Arg468Trp)
n.51C>T
c.1984C>T (p.Arg662Trp)
c.733C>T (p.Arg245Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8318817G>ACA398023573ARHGEF15c.1940G>A (p.Arg647Gln)
c.1403G>A (p.Arg468Gln)
n.52G>A
c.1985G>A (p.Arg662Gln)
c.734G>A (p.Arg245Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8318817G>CCA8375357ARHGEF15c.1940G>C (p.Arg647Pro)
c.1403G>C (p.Arg468Pro)
n.52G>C
c.1985G>C (p.Arg662Pro)
c.734G>C (p.Arg245Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318817G=CA2246260745ARHGEF15c.1940G= (p.Arg647=)
c.1403G= (p.Arg468=)
n.52G=
c.1985G= (p.Arg662=)
c.734G= (p.Arg245=)
17g.8318817G>TCA398023574ARHGEF15c.1940G>T (p.Arg647Leu)
c.1403G>T (p.Arg468Leu)
n.52G>T
c.1985G>T (p.Arg662Leu)
c.734G>T (p.Arg245Leu)
 gnomAD v4
17g.8318818G>ACA497963042ARHGEF15c.1941G>A (p.Arg647=)
c.1404G>A (p.Arg468=)
n.53G>A
c.1986G>A (p.Arg662=)
c.735G>A (p.Arg245=)
17g.8318818G>CCA497963043ARHGEF15c.1941G>C (p.Arg647=)
c.1404G>C (p.Arg468=)
n.53G>C
c.1986G>C (p.Arg662=)
c.735G>C (p.Arg245=)
17g.8318818G=CA2246260746ARHGEF15c.1941G= (p.Arg647=)
c.1404G= (p.Arg468=)
n.53G=
c.1986G= (p.Arg662=)
c.735G= (p.Arg245=)
17g.8318818G>TCA8375358ARHGEF15c.1941G>T (p.Arg647=)
c.1404G>T (p.Arg468=)
n.53G>T
c.1986G>T (p.Arg662=)
c.735G>T (p.Arg245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318819A=CA2246260747ARHGEF15c.1942A= (p.Arg648=)
c.1405A= (p.Arg469=)
n.54A=
c.1987A= (p.Arg663=)
c.736A= (p.Arg246=)
17g.8318819A>CCA497963044ARHGEF15c.1942A>C (p.Arg648=)
c.1405A>C (p.Arg469=)
n.54A>C
c.1987A>C (p.Arg663=)
c.736A>C (p.Arg246=)
17g.8318819A>GCA398023575ARHGEF15c.1942A>G (p.Arg648Gly)
c.1405A>G (p.Arg469Gly)
n.54A>G
c.1987A>G (p.Arg663Gly)
c.736A>G (p.Arg246Gly)
 dbSNP gnomAD v4
17g.8318819A>TCA398023576ARHGEF15c.1942A>T (p.Arg648Trp)
c.1405A>T (p.Arg469Trp)
n.54A>T
c.1987A>T (p.Arg663Trp)
c.736A>T (p.Arg246Trp)
17g.8318820G>ACA398023581ARHGEF15c.1943G>A (p.Arg648Lys)
c.1406G>A (p.Arg469Lys)
n.55G>A
c.1988G>A (p.Arg663Lys)
c.737G>A (p.Arg246Lys)
 dbSNP gnomAD v4 COSMIC
17g.8318820G>CCA287572405ARHGEF15c.1943G>C (p.Arg648Thr)
c.1406G>C (p.Arg469Thr)
n.55G>C
c.1988G>C (p.Arg663Thr)
c.737G>C (p.Arg246Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8318820G=CA2246260748ARHGEF15c.1943G= (p.Arg648=)
c.1406G= (p.Arg469=)
n.55G=
c.1988G= (p.Arg663=)
c.737G= (p.Arg246=)
17g.8318820G>TCA398023580ARHGEF15c.1943G>T (p.Arg648Met)
c.1406G>T (p.Arg469Met)
n.55G>T
c.1988G>T (p.Arg663Met)
c.737G>T (p.Arg246Met)
17g.8318826dupCA8375359ARHGEF15c.1949dup (p.Val651ArgfsTer18)
c.1412dup (p.Val472ArgfsTer18)
n.61dup
c.1994dup (p.Val666ArgfsTer18)
c.743dup (p.Val249ArgfsTer18)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8318826delCA2635999287ARHGEF15c.1949del (p.Gly650AlafsTer?)
c.1412del (p.Gly471AlafsTer?)
n.61del
c.1994del (p.Gly665AlafsTer?)
c.743del (p.Gly248AlafsTer?)
 gnomAD v4
17g.8318825_8318826delCA2808403707ARHGEF15c.1948_1949del (p.Gly650ArgfsTer18)
c.1411_1412del (p.Gly471ArgfsTer18)
n.60_61del
c.1993_1994del (p.Gly665ArgfsTer18)
c.742_743del (p.Gly248ArgfsTer18)
17g.8318821G>ACA8375361ARHGEF15c.1944G>A (p.Arg648=)
c.1407G>A (p.Arg469=)
n.56G>A
c.1989G>A (p.Arg663=)
c.738G>A (p.Arg246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8318821G>CCA8375360ARHGEF15c.1944G>C (p.Arg648Ser)
c.1407G>C (p.Arg469Ser)
n.56G>C
c.1989G>C (p.Arg663Ser)
c.738G>C (p.Arg246Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318821G=CA2246260749ARHGEF15c.1944G= (p.Arg648=)
c.1407G= (p.Arg469=)
n.56G=
c.1989G= (p.Arg663=)
c.738G= (p.Arg246=)
17g.8318821G>TCA8375362ARHGEF15c.1944G>T (p.Arg648Ser)
c.1407G>T (p.Arg469Ser)
n.56G>T
c.1989G>T (p.Arg663Ser)
c.738G>T (p.Arg246Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318822G>ACA8375364ARHGEF15c.1945G>A (p.Gly649Arg)
c.1408G>A (p.Gly470Arg)
n.57G>A
c.1990G>A (p.Gly664Arg)
c.739G>A (p.Gly247Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318822G>CCA8375363ARHGEF15c.1945G>C (p.Gly649Arg)
c.1408G>C (p.Gly470Arg)
n.57G>C
c.1990G>C (p.Gly664Arg)
c.739G>C (p.Gly247Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318822G=CA2246260750ARHGEF15c.1945G= (p.Gly649=)
c.1408G= (p.Gly470=)
n.57G=
c.1990G= (p.Gly664=)
c.739G= (p.Gly247=)
17g.8318822G>TCA398023588ARHGEF15c.1945G>T (p.Gly649Trp)
c.1408G>T (p.Gly470Trp)
n.57G>T
c.1990G>T (p.Gly664Trp)
c.739G>T (p.Gly247Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8318823G>ACA398023591ARHGEF15c.1946G>A (p.Gly649Glu)
c.1409G>A (p.Gly470Glu)
n.58G>A
c.1991G>A (p.Gly664Glu)
c.740G>A (p.Gly247Glu)
 dbSNP
17g.8318823G>CCA398023594ARHGEF15c.1946G>C (p.Gly649Ala)
c.1409G>C (p.Gly470Ala)
n.58G>C
c.1991G>C (p.Gly664Ala)
c.740G>C (p.Gly247Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.8318823G=CA2246260751ARHGEF15c.1946G= (p.Gly649=)
c.1409G= (p.Gly470=)
n.58G=
c.1991G= (p.Gly664=)
c.740G= (p.Gly247=)
17g.8318823G>TCA398023593ARHGEF15c.1946G>T (p.Gly649Val)
c.1409G>T (p.Gly470Val)
n.58G>T
c.1991G>T (p.Gly664Val)
c.740G>T (p.Gly247Val)
17g.8318824G>ACA8375365ARHGEF15c.1947G>A (p.Gly649=)
c.1410G>A (p.Gly470=)
n.59G>A
c.1992G>A (p.Gly664=)
c.741G>A (p.Gly247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8318824G>CCA497963055ARHGEF15c.1947G>C (p.Gly649=)
c.1410G>C (p.Gly470=)
n.59G>C
c.1992G>C (p.Gly664=)
c.741G>C (p.Gly247=)
17g.8318824G=CA2246260752ARHGEF15c.1947G= (p.Gly649=)
c.1410G= (p.Gly470=)
n.59G=
c.1992G= (p.Gly664=)
c.741G= (p.Gly247=)
17g.8318824G>TCA497963057ARHGEF15c.1947G>T (p.Gly649=)
c.1410G>T (p.Gly470=)
n.59G>T
c.1992G>T (p.Gly664=)
c.741G>T (p.Gly247=)
 gnomAD v4 COSMIC
17g.8318825G>ACA398023598ARHGEF15c.1948G>A (p.Gly650Ser)
c.1411G>A (p.Gly471Ser)
n.60G>A
c.1993G>A (p.Gly665Ser)
c.742G>A (p.Gly248Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8318825G>CCA398023600ARHGEF15c.1948G>C (p.Gly650Arg)
c.1411G>C (p.Gly471Arg)
n.60G>C
c.1993G>C (p.Gly665Arg)
c.742G>C (p.Gly248Arg)
 gnomAD v4
17g.8318825G=CA2246260753ARHGEF15c.1948G= (p.Gly650=)
c.1411G= (p.Gly471=)
n.60G=
c.1993G= (p.Gly665=)
c.742G= (p.Gly248=)
17g.8318825G>TCA8375366ARHGEF15c.1948G>T (p.Gly650Cys)
c.1411G>T (p.Gly471Cys)
n.60G>T
c.1993G>T (p.Gly665Cys)
c.742G>T (p.Gly248Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318826G>ACA8375367ARHGEF15c.1949G>A (p.Gly650Asp)
c.1412G>A (p.Gly471Asp)
n.61G>A
c.1994G>A (p.Gly665Asp)
c.743G>A (p.Gly248Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318826G>CCA398023604ARHGEF15c.1949G>C (p.Gly650Ala)
c.1412G>C (p.Gly471Ala)
n.61G>C
c.1994G>C (p.Gly665Ala)
c.743G>C (p.Gly248Ala)
 dbSNP
17g.8318826G=CA2246260754ARHGEF15c.1949G= (p.Gly650=)
c.1412G= (p.Gly471=)
n.61G=
c.1994G= (p.Gly665=)
c.743G= (p.Gly248=)
17g.8318826G>TCA398023606ARHGEF15c.1949G>T (p.Gly650Val)
c.1412G>T (p.Gly471Val)
n.61G>T
c.1994G>T (p.Gly665Val)
c.743G>T (p.Gly248Val)
17g.8318827C>ACA497963063ARHGEF15c.1950C>A (p.Gly650=)
c.1413C>A (p.Gly471=)
n.62C>A
c.1995C>A (p.Gly665=)
c.744C>A (p.Gly248=)
 gnomAD v4
17g.8318827C=CA2246260755ARHGEF15c.1950C= (p.Gly650=)
c.1413C= (p.Gly471=)
n.62C=
c.1995C= (p.Gly665=)
c.744C= (p.Gly248=)
17g.8318827C>GCA287572412ARHGEF15c.1950C>G (p.Gly650=)
c.1413C>G (p.Gly471=)
n.62C>G
c.1995C>G (p.Gly665=)
c.744C>G (p.Gly248=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.8318827C>TCA8375368ARHGEF15c.1950C>T (p.Gly650=)
c.1413C>T (p.Gly471=)
n.62C>T
c.1995C>T (p.Gly665=)
c.744C>T (p.Gly248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318828G>ACA8375369ARHGEF15c.1951G>A (p.Val651Met)
c.1414G>A (p.Val472Met)
n.63G>A
c.1996G>A (p.Val666Met)
c.745G>A (p.Val249Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318828G>CCA398023611ARHGEF15c.1951G>C (p.Val651Leu)
c.1414G>C (p.Val472Leu)
n.63G>C
c.1996G>C (p.Val666Leu)
c.745G>C (p.Val249Leu)
17g.8318828G=CA2246260756ARHGEF15c.1951G= (p.Val651=)
c.1414G= (p.Val472=)
n.63G=
c.1996G= (p.Val666=)
c.745G= (p.Val249=)
17g.8318828G>TCA398023614ARHGEF15c.1951G>T (p.Val651Leu)
c.1414G>T (p.Val472Leu)
n.63G>T
c.1996G>T (p.Val666Leu)
c.745G>T (p.Val249Leu)
 gnomAD v4
17g.8318829T>ACA398023615ARHGEF15c.1952T>A (p.Val651Glu)
c.1415T>A (p.Val472Glu)
n.64T>A
c.1997T>A (p.Val666Glu)
c.746T>A (p.Val249Glu)
17g.8318829T>CCA398023616ARHGEF15c.1952T>C (p.Val651Ala)
c.1415T>C (p.Val472Ala)
n.64T>C
c.1997T>C (p.Val666Ala)
c.746T>C (p.Val249Ala)
17g.8318829T>GCA398023618ARHGEF15c.1952T>G (p.Val651Gly)
c.1415T>G (p.Val472Gly)
n.64T>G
c.1997T>G (p.Val666Gly)
c.746T>G (p.Val249Gly)
17g.8318830G>ACA497963068ARHGEF15c.1953G>A (p.Val651=)
c.1416G>A (p.Val472=)
n.65G>A
c.1998G>A (p.Val666=)
c.747G>A (p.Val249=)
17g.8318830G>CCA497963070ARHGEF15c.1953G>C (p.Val651=)
c.1416G>C (p.Val472=)
n.65G>C
c.1998G>C (p.Val666=)
c.747G>C (p.Val249=)
17g.8318830G>TCA497963072ARHGEF15c.1953G>T (p.Val651=)
c.1416G>T (p.Val472=)
n.65G>T
c.1998G>T (p.Val666=)
c.747G>T (p.Val249=)
17g.8318831C>ACA398023621ARHGEF15c.1954C>A (p.Leu652Ile)
c.1417C>A (p.Leu473Ile)
n.66C>A
c.1999C>A (p.Leu667Ile)
c.748C>A (p.Leu250Ile)
17g.8318831C=CA2246260757ARHGEF15c.1954C= (p.Leu652=)
c.1417C= (p.Leu473=)
n.66C=
c.1999C= (p.Leu667=)
c.748C= (p.Leu250=)
17g.8318831C>GCA398023622ARHGEF15c.1954C>G (p.Leu652Val)
c.1417C>G (p.Leu473Val)
n.66C>G
c.1999C>G (p.Leu667Val)
c.748C>G (p.Leu250Val)
17g.8318831C>TCA398023625ARHGEF15c.1954C>T (p.Leu652Phe)
c.1417C>T (p.Leu473Phe)
n.66C>T
c.1999C>T (p.Leu667Phe)
c.748C>T (p.Leu250Phe)
 dbSNP
17g.8318832T>ACA398023627ARHGEF15c.1955T>A (p.Leu652His)
c.1418T>A (p.Leu473His)
n.67T>A
c.2000T>A (p.Leu667His)
c.749T>A (p.Leu250His)
17g.8318832T>CCA398023629ARHGEF15c.1955T>C (p.Leu652Pro)
c.1418T>C (p.Leu473Pro)
n.67T>C
c.2000T>C (p.Leu667Pro)
c.749T>C (p.Leu250Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.8318832T>GCA398023630ARHGEF15c.1955T>G (p.Leu652Arg)
c.1418T>G (p.Leu473Arg)
n.67T>G
c.2000T>G (p.Leu667Arg)
c.749T>G (p.Leu250Arg)
17g.8318832T=CA2246260758ARHGEF15c.1955T= (p.Leu652=)
c.1418T= (p.Leu473=)
n.67T=
c.2000T= (p.Leu667=)
c.749T= (p.Leu250=)
17g.8318833C>ACA497963078ARHGEF15c.1956C>A (p.Leu652=)
c.1419C>A (p.Leu473=)
n.68C>A
c.2001C>A (p.Leu667=)
c.750C>A (p.Leu250=)
17g.8318833C=CA2246260759ARHGEF15c.1956C= (p.Leu652=)
c.1419C= (p.Leu473=)
n.68C=
c.2001C= (p.Leu667=)
c.750C= (p.Leu250=)
17g.8318833C>GCA497963079ARHGEF15c.1956C>G (p.Leu652=)
c.1419C>G (p.Leu473=)
n.68C>G
c.2001C>G (p.Leu667=)
c.750C>G (p.Leu250=)
 gnomAD v4
17g.8318833C>TCA497963080ARHGEF15c.1956C>T (p.Leu652=)
c.1419C>T (p.Leu473=)
n.68C>T
c.2001C>T (p.Leu667=)
c.750C>T (p.Leu250=)
 dbSNP gnomAD v2 gnomAD v4
17g.8318834T>ACA398023637ARHGEF15c.1957T>A (p.Phe653Ile)
c.1420T>A (p.Phe474Ile)
n.69T>A
c.2002T>A (p.Phe668Ile)
c.751T>A (p.Phe251Ile)
17g.8318834T>CCA398023632ARHGEF15c.1957T>C (p.Phe653Leu)
c.1420T>C (p.Phe474Leu)
n.69T>C
c.2002T>C (p.Phe668Leu)
c.751T>C (p.Phe251Leu)
17g.8318834T>GCA398023633ARHGEF15c.1957T>G (p.Phe653Val)
c.1420T>G (p.Phe474Val)
n.69T>G
c.2002T>G (p.Phe668Val)
c.751T>G (p.Phe251Val)
 ClinVar
17g.8318835T>ACA398023639ARHGEF15c.1958T>A (p.Phe653Tyr)
c.1421T>A (p.Phe474Tyr)
n.70T>A
c.2003T>A (p.Phe668Tyr)
c.752T>A (p.Phe251Tyr)
17g.8318835T>CCA398023650ARHGEF15c.1958T>C (p.Phe653Ser)
c.1421T>C (p.Phe474Ser)
n.70T>C
c.2003T>C (p.Phe668Ser)
c.752T>C (p.Phe251Ser)
17g.8318835T>GCA398023652ARHGEF15c.1958T>G (p.Phe653Cys)
c.1421T>G (p.Phe474Cys)
n.70T>G
c.2003T>G (p.Phe668Cys)
c.752T>G (p.Phe251Cys)
17g.8318836T>ACA398023657ARHGEF15c.1959T>A (p.Phe653Leu)
c.1422T>A (p.Phe474Leu)
n.71T>A
c.2004T>A (p.Phe668Leu)
c.753T>A (p.Phe251Leu)
17g.8318836T>CCA497963088ARHGEF15c.1959T>C (p.Phe653=)
c.1422T>C (p.Phe474=)
n.71T>C
c.2004T>C (p.Phe668=)
c.753T>C (p.Phe251=)
17g.8318836T>GCA398023660ARHGEF15c.1959T>G (p.Phe653Leu)
c.1422T>G (p.Phe474Leu)
n.71T>G
c.2004T>G (p.Phe668Leu)
c.753T>G (p.Phe251Leu)
17g.8318837G>ACA398023663ARHGEF15c.1960G>A (p.Ala654Thr)
c.1423G>A (p.Ala475Thr)
n.72G>A
c.2005G>A (p.Ala669Thr)
c.754G>A (p.Ala252Thr)
17g.8318837G>CCA398023666ARHGEF15c.1960G>C (p.Ala654Pro)
c.1423G>C (p.Ala475Pro)
n.72G>C
c.2005G>C (p.Ala669Pro)
c.754G>C (p.Ala252Pro)
17g.8318837G>TCA398023668ARHGEF15c.1960G>T (p.Ala654Ser)
c.1423G>T (p.Ala475Ser)
n.72G>T
c.2005G>T (p.Ala669Ser)
c.754G>T (p.Ala252Ser)
 gnomAD v4
17g.8318838C>ACA398023674ARHGEF15c.1961C>A (p.Ala654Asp)
c.1424C>A (p.Ala475Asp)
n.73C>A
c.2006C>A (p.Ala669Asp)
c.755C>A (p.Ala252Asp)
17g.8318838C>GCA398023676ARHGEF15c.1961C>G (p.Ala654Gly)
c.1424C>G (p.Ala475Gly)
n.73C>G
c.2006C>G (p.Ala669Gly)
c.755C>G (p.Ala252Gly)
17g.8318838C>TCA398023679ARHGEF15c.1961C>T (p.Ala654Val)
c.1424C>T (p.Ala475Val)
n.73C>T
c.2006C>T (p.Ala669Val)
c.755C>T (p.Ala252Val)
17g.8318839C>ACA497963095ARHGEF15c.1962C>A (p.Ala654=)
c.1425C>A (p.Ala475=)
n.74C>A
c.2007C>A (p.Ala669=)
c.756C>A (p.Ala252=)
17g.8318839C=CA2246260760ARHGEF15c.1962C= (p.Ala654=)
c.1425C= (p.Ala475=)
n.74C=
c.2007C= (p.Ala669=)
c.756C= (p.Ala252=)
17g.8318839C>GCA497963096ARHGEF15c.1962C>G (p.Ala654=)
c.1425C>G (p.Ala475=)
n.74C>G
c.2007C>G (p.Ala669=)
c.756C>G (p.Ala252=)
17g.8318839C>TCA8375370ARHGEF15c.1962C>T (p.Ala654=)
c.1425C>T (p.Ala475=)
n.74C>T
c.2007C>T (p.Ala669=)
c.756C>T (p.Ala252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318840T>ACA398023691ARHGEF15c.1963T>A (p.Ser655Thr)
c.1426T>A (p.Ser476Thr)
n.75T>A
c.2008T>A (p.Ser670Thr)
c.757T>A (p.Ser253Thr)
17g.8318840T>CCA398023687ARHGEF15c.1963T>C (p.Ser655Pro)
c.1426T>C (p.Ser476Pro)
n.75T>C
c.2008T>C (p.Ser670Pro)
c.757T>C (p.Ser253Pro)
17g.8318840T>GCA398023689ARHGEF15c.1963T>G (p.Ser655Ala)
c.1426T>G (p.Ser476Ala)
n.75T>G
c.2008T>G (p.Ser670Ala)
c.757T>G (p.Ser253Ala)
17g.8318841C>ACA398023693ARHGEF15c.1964C>A (p.Ser655Ter)
c.1427C>A (p.Ser476Ter)
n.76C>A
c.2009C>A (p.Ser670Ter)
c.758C>A (p.Ser253Ter)
17g.8318841C=CA2246260761ARHGEF15c.1964C= (p.Ser655=)
c.1427C= (p.Ser476=)
n.76C=
c.2009C= (p.Ser670=)
c.758C= (p.Ser253=)
17g.8318841C>GCA398023697ARHGEF15c.1964C>G (p.Ser655Trp)
c.1427C>G (p.Ser476Trp)
n.76C>G
c.2009C>G (p.Ser670Trp)
c.758C>G (p.Ser253Trp)
17g.8318841C>TCA287572416ARHGEF15c.1964C>T (p.Ser655Leu)
c.1427C>T (p.Ser476Leu)
n.76C>T
c.2009C>T (p.Ser670Leu)
c.758C>T (p.Ser253Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.8318842G>ACA8375371ARHGEF15c.1965G>A (p.Ser655=)
c.1428G>A (p.Ser476=)
n.77G>A
c.2010G>A (p.Ser670=)
c.759G>A (p.Ser253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318842G>CCA8375372ARHGEF15c.1965G>C (p.Ser655=)
c.1428G>C (p.Ser476=)
n.77G>C
c.2010G>C (p.Ser670=)
c.759G>C (p.Ser253=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318842G=CA2246260762ARHGEF15c.1965G= (p.Ser655=)
c.1428G= (p.Ser476=)
n.77G=
c.2010G= (p.Ser670=)
c.759G= (p.Ser253=)
17g.8318842G>TCA497963100ARHGEF15c.1965G>T (p.Ser655=)
c.1428G>T (p.Ser476=)
n.77G>T
c.2010G>T (p.Ser670=)
c.759G>T (p.Ser253=)
 dbSNP gnomAD v3 gnomAD v4
17g.8318843C>ACA398023704ARHGEF15c.1966C>A (p.Arg656Ser)
c.1429C>A (p.Arg477Ser)
n.78C>A
c.2011C>A (p.Arg671Ser)
c.760C>A (p.Arg254Ser)
 gnomAD v4
17g.8318843C=CA2246260763ARHGEF15c.1966C= (p.Arg656=)
c.1429C= (p.Arg477=)
n.78C=
c.2011C= (p.Arg671=)
c.760C= (p.Arg254=)
17g.8318843C>GCA398023707ARHGEF15c.1966C>G (p.Arg656Gly)
c.1429C>G (p.Arg477Gly)
n.78C>G
c.2011C>G (p.Arg671Gly)
c.760C>G (p.Arg254Gly)
 dbSNP
17g.8318843C>TCA8375373ARHGEF15c.1966C>T (p.Arg656Cys)
c.1429C>T (p.Arg477Cys)
n.78C>T
c.2011C>T (p.Arg671Cys)
c.760C>T (p.Arg254Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318844G>ACA398023712ARHGEF15c.1967G>A (p.Arg656His)
c.1430G>A (p.Arg477His)
n.79G>A
c.2012G>A (p.Arg671His)
c.761G>A (p.Arg254His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8318844G>CCA398023713ARHGEF15c.1967G>C (p.Arg656Pro)
c.1430G>C (p.Arg477Pro)
n.79G>C
c.2012G>C (p.Arg671Pro)
c.761G>C (p.Arg254Pro)
17g.8318844G=CA2246260764ARHGEF15c.1967G= (p.Arg656=)
c.1430G= (p.Arg477=)
n.79G=
c.2012G= (p.Arg671=)
c.761G= (p.Arg254=)
17g.8318844G>TCA398023716ARHGEF15c.1967G>T (p.Arg656Leu)
c.1430G>T (p.Arg477Leu)
n.79G>T
c.2012G>T (p.Arg671Leu)
c.761G>T (p.Arg254Leu)
17g.8318845C>ACA497963104ARHGEF15c.1968C>A (p.Arg656=)
c.1431C>A (p.Arg477=)
n.80C>A
c.2013C>A (p.Arg671=)
c.762C>A (p.Arg254=)
17g.8318845C=CA2246260765ARHGEF15c.1968C= (p.Arg656=)
c.1431C= (p.Arg477=)
n.80C=
c.2013C= (p.Arg671=)
c.762C= (p.Arg254=)
17g.8318845C>GCA287572420ARHGEF15c.1968C>G (p.Arg656=)
c.1431C>G (p.Arg477=)
n.80C>G
c.2013C>G (p.Arg671=)
c.762C>G (p.Arg254=)
 dbSNP gnomAD v4
17g.8318845C>TCA8375374ARHGEF15c.1968C>T (p.Arg656=)
c.1431C>T (p.Arg477=)
n.80C>T
c.2013C>T (p.Arg671=)
c.762C>T (p.Arg254=)
 dbSNP ExAC gnomAD v2
17g.8318849dupCA2576164107ARHGEF15c.1972dup (p.Arg658ProfsTer11)
c.1435dup (p.Arg479ProfsTer11)
n.84dup
c.2017dup (p.Arg673ProfsTer11)
c.766dup (p.Arg256ProfsTer11)
17g.8318849delCA2635999288ARHGEF15c.1972del (p.Arg658AlafsTer?)
c.1435del (p.Arg479AlafsTer?)
n.84del
c.2017del (p.Arg673AlafsTer?)
c.766del (p.Arg256AlafsTer?)
 gnomAD v4
17g.8318846C>ACA398023722ARHGEF15c.1969C>A (p.Pro657Thr)
c.1432C>A (p.Pro478Thr)
n.81C>A
c.2014C>A (p.Pro672Thr)
c.763C>A (p.Pro255Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.8318846C=CA2246260766ARHGEF15c.1969C= (p.Pro657=)
c.1432C= (p.Pro478=)
n.81C=
c.2014C= (p.Pro672=)
c.763C= (p.Pro255=)
17g.8318846C>GCA398023725ARHGEF15c.1969C>G (p.Pro657Ala)
c.1432C>G (p.Pro478Ala)
n.81C>G
c.2014C>G (p.Pro672Ala)
c.763C>G (p.Pro255Ala)
17g.8318846C>TCA398023727ARHGEF15c.1969C>T (p.Pro657Ser)
c.1432C>T (p.Pro478Ser)
n.81C>T
c.2014C>T (p.Pro672Ser)
c.763C>T (p.Pro255Ser)
 gnomAD v4
17g.8318847C>ACA398023737ARHGEF15c.1970C>A (p.Pro657His)
c.1433C>A (p.Pro478His)
n.82C>A
c.2015C>A (p.Pro672His)
c.764C>A (p.Pro255His)
 ClinVar
17g.8318847C>GCA398023734ARHGEF15c.1970C>G (p.Pro657Arg)
c.1433C>G (p.Pro478Arg)
n.82C>G
c.2015C>G (p.Pro672Arg)
c.764C>G (p.Pro255Arg)
17g.8318847C>TCA398023731ARHGEF15c.1970C>T (p.Pro657Leu)
c.1433C>T (p.Pro478Leu)
n.82C>T
c.2015C>T (p.Pro672Leu)
c.764C>T (p.Pro255Leu)
17g.8318848C>ACA497963111ARHGEF15c.1971C>A (p.Pro657=)
c.1434C>A (p.Pro478=)
n.83C>A
c.2016C>A (p.Pro672=)
c.765C>A (p.Pro255=)
17g.8318848C=CA2246260767ARHGEF15c.1971C= (p.Pro657=)
c.1434C= (p.Pro478=)
n.83C=
c.2016C= (p.Pro672=)
c.765C= (p.Pro255=)
17g.8318848C>GCA8375375ARHGEF15c.1971C>G (p.Pro657=)
c.1434C>G (p.Pro478=)
n.83C>G
c.2016C>G (p.Pro672=)
c.765C>G (p.Pro255=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318848C>TCA497963112ARHGEF15c.1971C>T (p.Pro657=)
c.1434C>T (p.Pro478=)
n.83C>T
c.2016C>T (p.Pro672=)
c.765C>T (p.Pro255=)
 gnomAD v4
17g.8318849C>ACA398023740ARHGEF15c.1972C>A (p.Arg658Ser)
c.1435C>A (p.Arg479Ser)
n.84C>A
c.2017C>A (p.Arg673Ser)
c.766C>A (p.Arg256Ser)
17g.8318849C=CA2246260768ARHGEF15c.1972C= (p.Arg658=)
c.1435C= (p.Arg479=)
n.84C=
c.2017C= (p.Arg673=)
c.766C= (p.Arg256=)
17g.8318849C>GCA398023743ARHGEF15c.1972C>G (p.Arg658Gly)
c.1435C>G (p.Arg479Gly)
n.84C>G
c.2017C>G (p.Arg673Gly)
c.766C>G (p.Arg256Gly)
17g.8318849C>TCA8375376ARHGEF15c.1972C>T (p.Arg658Cys)
c.1435C>T (p.Arg479Cys)
n.84C>T
c.2017C>T (p.Arg673Cys)
c.766C>T (p.Arg256Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318850G>ACA8375377ARHGEF15c.1973G>A (p.Arg658His)
c.1436G>A (p.Arg479His)
n.85G>A
c.2018G>A (p.Arg673His)
c.767G>A (p.Arg256His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318850G>CCA398023748ARHGEF15c.1973G>C (p.Arg658Pro)
c.1436G>C (p.Arg479Pro)
n.85G>C
c.2018G>C (p.Arg673Pro)
c.767G>C (p.Arg256Pro)
17g.8318850G=CA2246260769ARHGEF15c.1973G= (p.Arg658=)
c.1436G= (p.Arg479=)
n.85G=
c.2018G= (p.Arg673=)
c.767G= (p.Arg256=)
17g.8318850G>TCA8375378ARHGEF15c.1973G>T (p.Arg658Leu)
c.1436G>T (p.Arg479Leu)
n.85G>T
c.2018G>T (p.Arg673Leu)
c.767G>T (p.Arg256Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318851C>ACA497963119ARHGEF15c.1974C>A (p.Arg658=)
c.1437C>A (p.Arg479=)
n.86C>A
c.2019C>A (p.Arg673=)
c.768C>A (p.Arg256=)
17g.8318851C>GCA497963121ARHGEF15c.1974C>G (p.Arg658=)
c.1437C>G (p.Arg479=)
n.86C>G
c.2019C>G (p.Arg673=)
c.768C>G (p.Arg256=)
17g.8318851C>TCA497963122ARHGEF15c.1974C>T (p.Arg658=)
c.1437C>T (p.Arg479=)
n.86C>T
c.2019C>T (p.Arg673=)
c.768C>T (p.Arg256=)
17g.8318852T>ACA398023755ARHGEF15c.1975T>A (p.Phe659Ile)
c.1438T>A (p.Phe480Ile)
n.87T>A
c.2020T>A (p.Phe674Ile)
c.769T>A (p.Phe257Ile)
17g.8318852T>CCA398023758ARHGEF15c.1975T>C (p.Phe659Leu)
c.1438T>C (p.Phe480Leu)
n.87T>C
c.2020T>C (p.Phe674Leu)
c.769T>C (p.Phe257Leu)
 gnomAD v4
17g.8318852T>GCA398023760ARHGEF15c.1975T>G (p.Phe659Val)
c.1438T>G (p.Phe480Val)
n.87T>G
c.2020T>G (p.Phe674Val)
c.769T>G (p.Phe257Val)
17g.8318853T>ACA398023764ARHGEF15c.1976T>A (p.Phe659Tyr)
c.1439T>A (p.Phe480Tyr)
n.88T>A
c.2021T>A (p.Phe674Tyr)
c.770T>A (p.Phe257Tyr)
17g.8318853T>CCA398023766ARHGEF15c.1976T>C (p.Phe659Ser)
c.1439T>C (p.Phe480Ser)
n.88T>C
c.2021T>C (p.Phe674Ser)
c.770T>C (p.Phe257Ser)
17g.8318853T>GCA398023768ARHGEF15c.1976T>G (p.Phe659Cys)
c.1439T>G (p.Phe480Cys)
n.88T>G
c.2021T>G (p.Phe674Cys)
c.770T>G (p.Phe257Cys)
17g.8318854C>ACA398023771ARHGEF15c.1977C>A (p.Phe659Leu)
c.1440C>A (p.Phe480Leu)
n.89C>A
c.2022C>A (p.Phe674Leu)
c.771C>A (p.Phe257Leu)
17g.8318854C>GCA398023773ARHGEF15c.1977C>G (p.Phe659Leu)
c.1440C>G (p.Phe480Leu)
n.89C>G
c.2022C>G (p.Phe674Leu)
c.771C>G (p.Phe257Leu)
17g.8318854C>TCA497963125ARHGEF15c.1977C>T (p.Phe659=)
c.1440C>T (p.Phe480=)
n.89C>T
c.2022C>T (p.Phe674=)
c.771C>T (p.Phe257=)
 gnomAD v4 COSMIC
17g.8318855A>CCA398023776ARHGEF15c.1978A>C (p.Thr660Pro)
c.1441A>C (p.Thr481Pro)
n.90A>C
c.2023A>C (p.Thr675Pro)
c.772A>C (p.Thr258Pro)
17g.8318855A>GCA398023779ARHGEF15c.1978A>G (p.Thr660Ala)
c.1441A>G (p.Thr481Ala)
n.90A>G
c.2023A>G (p.Thr675Ala)
c.772A>G (p.Thr258Ala)
 gnomAD v4
17g.8318855A>TCA398023781ARHGEF15c.1978A>T (p.Thr660Ser)
c.1441A>T (p.Thr481Ser)
n.90A>T
c.2023A>T (p.Thr675Ser)
c.772A>T (p.Thr258Ser)
17g.8318856C>ACA398023784ARHGEF15c.1979C>A (p.Thr660Asn)
c.1442C>A (p.Thr481Asn)
n.91C>A
c.2024C>A (p.Thr675Asn)
c.773C>A (p.Thr258Asn)
17g.8318856C=CA2246260770ARHGEF15c.1979C= (p.Thr660=)
c.1442C= (p.Thr481=)
n.91C=
c.2024C= (p.Thr675=)
c.773C= (p.Thr258=)
17g.8318856C>GCA398023786ARHGEF15c.1979C>G (p.Thr660Ser)
c.1442C>G (p.Thr481Ser)
n.91C>G
c.2024C>G (p.Thr675Ser)
c.773C>G (p.Thr258Ser)
17g.8318856C>TCA8375379ARHGEF15c.1979C>T (p.Thr660Ile)
c.1442C>T (p.Thr481Ile)
n.91C>T
c.2024C>T (p.Thr675Ile)
c.773C>T (p.Thr258Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8318857C>ACA497963128ARHGEF15c.1980C>A (p.Thr660=)
c.1443C>A (p.Thr481=)
n.92C>A
c.2025C>A (p.Thr675=)
c.774C>A (p.Thr258=)
 dbSNP gnomAD v2 gnomAD v4
17g.8318857C=CA2246260771ARHGEF15c.1980C= (p.Thr660=)
c.1443C= (p.Thr481=)
n.92C=
c.2025C= (p.Thr675=)
c.774C= (p.Thr258=)
17g.8318857C>GCA497963130ARHGEF15c.1980C>G (p.Thr660=)
c.1443C>G (p.Thr481=)
n.92C>G
c.2025C>G (p.Thr675=)
c.774C>G (p.Thr258=)
 dbSNP gnomAD v3 gnomAD v4
17g.8318857C>TCA497963133ARHGEF15c.1980C>T (p.Thr660=)
c.1443C>T (p.Thr481=)
n.92C>T
c.2025C>T (p.Thr675=)
c.774C>T (p.Thr258=)
17g.8318858C>ACA398023798ARHGEF15c.1981C>A (p.Pro661Thr)
c.1444C>A (p.Pro482Thr)
n.93C>A
c.2026C>A (p.Pro676Thr)
c.775C>A (p.Pro259Thr)
17g.8318858C>GCA398023794ARHGEF15c.1981C>G (p.Pro661Ala)
c.1444C>G (p.Pro482Ala)
n.93C>G
c.2026C>G (p.Pro676Ala)
c.775C>G (p.Pro259Ala)
17g.8318858C>TCA398023792ARHGEF15c.1981C>T (p.Pro661Ser)
c.1444C>T (p.Pro482Ser)
n.93C>T
c.2026C>T (p.Pro676Ser)
c.775C>T (p.Pro259Ser)
 ClinVar
17g.8318859C>ACA398023801ARHGEF15c.1982C>A (p.Pro661His)
c.1445C>A (p.Pro482His)
n.94C>A
c.2027C>A (p.Pro676His)
c.776C>A (p.Pro259His)
17g.8318859C=CA2246260772ARHGEF15c.1982C= (p.Pro661=)
c.1445C= (p.Pro482=)
n.94C=
c.2027C= (p.Pro676=)
c.776C= (p.Pro259=)
17g.8318859C>GCA398023804ARHGEF15c.1982C>G (p.Pro661Arg)
c.1445C>G (p.Pro482Arg)
n.94C>G
c.2027C>G (p.Pro676Arg)
c.776C>G (p.Pro259Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.8318859C>TCA398023807ARHGEF15c.1982C>T (p.Pro661Leu)
c.1445C>T (p.Pro482Leu)
n.94C>T
c.2027C>T (p.Pro676Leu)
c.776C>T (p.Pro259Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.8318860T>ACA497963134ARHGEF15c.1983T>A (p.Pro661=)
c.1446T>A (p.Pro482=)
n.95T>A
c.2028T>A (p.Pro676=)
c.777T>A (p.Pro259=)
17g.8318860T>CCA497963135ARHGEF15c.1983T>C (p.Pro661=)
c.1446T>C (p.Pro482=)
n.95T>C
c.2028T>C (p.Pro676=)
c.777T>C (p.Pro259=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8318860T>GCA497963137ARHGEF15c.1983T>G (p.Pro661=)
c.1446T>G (p.Pro482=)
n.95T>G
c.2028T>G (p.Pro676=)
c.777T>G (p.Pro259=)
 gnomAD v4
17g.8318861C>ACA398023810ARHGEF15c.1984C>A (p.Leu662Ile)
c.1447C>A (p.Leu483Ile)
n.96C>A
c.2029C>A (p.Leu677Ile)
c.778C>A (p.Leu260Ile)
17g.8318861C=CA2246260773ARHGEF15c.1984C= (p.Leu662=)
c.1447C= (p.Leu483=)
n.96C=
c.2029C= (p.Leu677=)
c.778C= (p.Leu260=)
17g.8318861C>GCA398023820ARHGEF15c.1984C>G (p.Leu662Val)
c.1447C>G (p.Leu483Val)
n.96C>G
c.2029C>G (p.Leu677Val)
c.778C>G (p.Leu260Val)
 dbSNP gnomAD v2 gnomAD v4
17g.8318861C>TCA398023823ARHGEF15c.1984C>T (p.Leu662Phe)
c.1447C>T (p.Leu483Phe)
n.96C>T
c.2029C>T (p.Leu677Phe)
c.778C>T (p.Leu260Phe)
17g.8318862T>ACA398023827ARHGEF15c.1985T>A (p.Leu662His)
c.1448T>A (p.Leu483His)
n.97T>A
c.2030T>A (p.Leu677His)
c.779T>A (p.Leu260His)
17g.8318862T>CCA398023833ARHGEF15c.1985T>C (p.Leu662Pro)
c.1448T>C (p.Leu483Pro)
n.97T>C
c.2030T>C (p.Leu677Pro)
c.779T>C (p.Leu260Pro)
17g.8318862T>GCA398023830ARHGEF15c.1985T>G (p.Leu662Arg)
c.1448T>G (p.Leu483Arg)
n.97T>G
c.2030T>G (p.Leu677Arg)
c.779T>G (p.Leu260Arg)
17g.8318863T>ACA497963141ARHGEF15c.1986T>A (p.Leu662=)
c.1449T>A (p.Leu483=)
n.98T>A
c.2031T>A (p.Leu677=)
c.780T>A (p.Leu260=)
17g.8318863T>CCA497963142ARHGEF15c.1986T>C (p.Leu662=)
c.1449T>C (p.Leu483=)
n.98T>C
c.2031T>C (p.Leu677=)
c.780T>C (p.Leu260=)
 gnomAD v3 gnomAD v4
17g.8318863T>GCA497963143ARHGEF15c.1986T>G (p.Leu662=)
c.1449T>G (p.Leu483=)
n.98T>G
c.2031T>G (p.Leu677=)
c.780T>G (p.Leu260=)
17g.8318864T>ACA398023836ARHGEF15c.1987T>A (p.Cys663Ser)
c.1450T>A (p.Cys484Ser)
n.99T>A
c.2032T>A (p.Cys678Ser)
c.781T>A (p.Cys261Ser)
17g.8318864T>CCA398023839ARHGEF15c.1987T>C (p.Cys663Arg)
c.1450T>C (p.Cys484Arg)
n.99T>C
c.2032T>C (p.Cys678Arg)
c.781T>C (p.Cys261Arg)
17g.8318864T>GCA398023841ARHGEF15c.1987T>G (p.Cys663Gly)
c.1450T>G (p.Cys484Gly)
n.99T>G
c.2032T>G (p.Cys678Gly)
c.781T>G (p.Cys261Gly)
17g.8318865G>ACA398023847ARHGEF15c.1988G>A (p.Cys663Tyr)
c.1451G>A (p.Cys484Tyr)
n.100G>A
c.2033G>A (p.Cys678Tyr)
c.782G>A (p.Cys261Tyr)
17g.8318865G>CCA398023848ARHGEF15c.1988G>C (p.Cys663Ser)
c.1451G>C (p.Cys484Ser)
n.100G>C
c.2033G>C (p.Cys678Ser)
c.782G>C (p.Cys261Ser)
17g.8318865G>TCA398023853ARHGEF15c.1988G>T (p.Cys663Phe)
c.1451G>T (p.Cys484Phe)
n.100G>T
c.2033G>T (p.Cys678Phe)
c.782G>T (p.Cys261Phe)
17g.8318866C>ACA398023856ARHGEF15c.1989C>A (p.Cys663Ter)
c.1452C>A (p.Cys484Ter)
n.101C>A
c.2034C>A (p.Cys678Ter)
c.783C>A (p.Cys261Ter)
17g.8318866C=CA2246260774ARHGEF15c.1989C= (p.Cys663=)
c.1452C= (p.Cys484=)
n.101C=
c.2034C= (p.Cys678=)
c.783C= (p.Cys261=)
17g.8318866C>GCA398023861ARHGEF15c.1989C>G (p.Cys663Trp)
c.1452C>G (p.Cys484Trp)
n.101C>G
c.2034C>G (p.Cys678Trp)
c.783C>G (p.Cys261Trp)
17g.8318866C>TCA497963149ARHGEF15c.1989C>T (p.Cys663=)
c.1452C>T (p.Cys484=)
n.101C>T
c.2034C>T (p.Cys678=)
c.783C>T (p.Cys261=)
 dbSNP gnomAD v2 gnomAD v4
17g.8318867C>ACA398023864ARHGEF15c.1990C>A (p.Leu664Met)
c.1453C>A (p.Leu485Met)
n.102C>A
c.2035C>A (p.Leu679Met)
c.784C>A (p.Leu262Met)
17g.8318867C=CA2246260775ARHGEF15c.1990C= (p.Leu664=)
c.1453C= (p.Leu485=)
n.102C=
c.2035C= (p.Leu679=)
c.784C= (p.Leu262=)
17g.8318867C>GCA398023867ARHGEF15c.1990C>G (p.Leu664Val)
c.1453C>G (p.Leu485Val)
n.102C>G
c.2035C>G (p.Leu679Val)
c.784C>G (p.Leu262Val)
17g.8318867C>TCA8375380ARHGEF15c.1990C>T (p.Leu664=)
c.1453C>T (p.Leu485=)
n.102C>T
c.2035C>T (p.Leu679=)
c.784C>T (p.Leu262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8318868T>ACA398023875ARHGEF15c.1991T>A (p.Leu664Gln)
c.1454T>A (p.Leu485Gln)
n.103T>A
c.2036T>A (p.Leu679Gln)
c.785T>A (p.Leu262Gln)
17g.8318868T>CCA398023872ARHGEF15c.1991T>C (p.Leu664Pro)
c.1454T>C (p.Leu485Pro)
n.103T>C
c.2036T>C (p.Leu679Pro)
c.785T>C (p.Leu262Pro)
17g.8318868T>GCA398023874ARHGEF15c.1991T>G (p.Leu664Arg)
c.1454T>G (p.Leu485Arg)
n.103T>G
c.2036T>G (p.Leu679Arg)
c.785T>G (p.Leu262Arg)
17g.8318869G>ACA497963155ARHGEF15c.1992G>A (p.Leu664=)
c.1455G>A (p.Leu485=)
n.104G>A
c.2037G>A (p.Leu679=)
c.786G>A (p.Leu262=)
17g.8318869G>CCA497963154ARHGEF15c.1992G>C (p.Leu664=)
c.1455G>C (p.Leu485=)
n.104G>C
c.2037G>C (p.Leu679=)
c.786G>C (p.Leu262=)
17g.8318869G>TCA497963151ARHGEF15c.1992G>T (p.Leu664=)
c.1455G>T (p.Leu485=)
n.104G>T
c.2037G>T (p.Leu679=)
c.786G>T (p.Leu262=)
17g.8318870C>ACA398023877ARHGEF15c.1993C>A (p.Leu665Met)
c.1456C>A (p.Leu486Met)
n.105C>A
c.2038C>A (p.Leu680Met)
c.787C>A (p.Leu263Met)
 dbSNP
17g.8318870C=CA2246260776ARHGEF15c.1993C= (p.Leu665=)
c.1456C= (p.Leu486=)
n.105C=
c.2038C= (p.Leu680=)
c.787C= (p.Leu263=)
17g.8318870C>GCA398023880ARHGEF15c.1993C>G (p.Leu665Val)
c.1456C>G (p.Leu486Val)
n.105C>G
c.2038C>G (p.Leu680Val)
c.787C>G (p.Leu263Val)
17g.8318870C>TCA497963157ARHGEF15c.1993C>T (p.Leu665=)
c.1456C>T (p.Leu486=)
n.105C>T
c.2038C>T (p.Leu680=)
c.787C>T (p.Leu263=)
17g.8318871T>ACA398023883ARHGEF15c.1994T>A (p.Leu665Gln)
c.1457T>A (p.Leu486Gln)
n.106T>A
c.2039T>A (p.Leu680Gln)
c.788T>A (p.Leu263Gln)
17g.8318871T>CCA398023884ARHGEF15c.1994T>C (p.Leu665Pro)
c.1457T>C (p.Leu486Pro)
n.106T>C
c.2039T>C (p.Leu680Pro)
c.788T>C (p.Leu263Pro)
17g.8318871T>GCA398023887ARHGEF15c.1994T>G (p.Leu665Arg)
c.1457T>G (p.Leu486Arg)
n.106T>G
c.2039T>G (p.Leu680Arg)
c.788T>G (p.Leu263Arg)
17g.8318872G>ACA497963158ARHGEF15c.1995G>A (p.Leu665=)
c.1458G>A (p.Leu486=)
n.107G>A
c.2040G>A (p.Leu680=)
c.789G>A (p.Leu263=)
17g.8318872G>CCA497963159ARHGEF15c.1995G>C (p.Leu665=)
c.1458G>C (p.Leu486=)
n.107G>C
c.2040G>C (p.Leu680=)
c.789G>C (p.Leu263=)
17g.8318872G>TCA497963160ARHGEF15c.1995G>T (p.Leu665=)
c.1458G>T (p.Leu486=)
n.107G>T
c.2040G>T (p.Leu680=)
c.789G>T (p.Leu263=)
 gnomAD v4
17g.8318873C>ACA398023888ARHGEF15c.1996C>A (p.Leu666Ile)
c.1459C>A (p.Leu487Ile)
n.108C>A
c.2041C>A (p.Leu681Ile)
c.790C>A (p.Leu264Ile)
17g.8318873C>GCA398023891ARHGEF15c.1996C>G (p.Leu666Val)
c.1459C>G (p.Leu487Val)
n.108C>G
c.2041C>G (p.Leu681Val)
c.790C>G (p.Leu264Val)
17g.8318873C>TCA398023894ARHGEF15c.1996C>T (p.Leu666Phe)
c.1459C>T (p.Leu487Phe)
n.108C>T
c.2041C>T (p.Leu681Phe)
c.790C>T (p.Leu264Phe)
 gnomAD v4
17g.8318874T>ACA398023897ARHGEF15c.1997T>A (p.Leu666His)
c.1460T>A (p.Leu487His)
n.109T>A
c.2042T>A (p.Leu681His)
c.791T>A (p.Leu264His)
17g.8318874T>CCA398023899ARHGEF15c.1997T>C (p.Leu666Pro)
c.1460T>C (p.Leu487Pro)
n.109T>C
c.2042T>C (p.Leu681Pro)
c.791T>C (p.Leu264Pro)
17g.8318874T>GCA398023902ARHGEF15c.1997T>G (p.Leu666Arg)
c.1460T>G (p.Leu487Arg)
n.109T>G
c.2042T>G (p.Leu681Arg)
c.791T>G (p.Leu264Arg)

Number of alleles fetched