Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.1909361A= | CA1757758940 | ARHGEF10 | c.2034A= (p.Gly678=) c.2562A= c.*1988A= (n.*1988A=) c.2109A= (p.Gly703=) c.2106A= (p.Gly702=) c.1920A= (p.Gly640=) c.1053A= (p.Gly351=) n.1758A= n.290A= c.2037A= (p.Gly679=) c.1917A= (p.Gly639=) c.1992A= (p.Gly664=) c.2121A= (p.Gly707=) | |
8 | g.1909361A>C | CA459054969 | ARHGEF10 | c.2034A>C (p.Gly678=) c.2562A>C c.*1988A>C (n.*1988A>C) c.2109A>C (p.Gly703=) c.2106A>C (p.Gly702=) c.1920A>C (p.Gly640=) c.1053A>C (p.Gly351=) n.1758A>C n.290A>C c.2037A>C (p.Gly679=) c.1917A>C (p.Gly639=) c.1992A>C (p.Gly664=) c.2121A>C (p.Gly707=) | |
8 | g.1909361A>G | CA459054970 | ARHGEF10 | c.2034A>G (p.Gly678=) c.2562A>G c.*1988A>G (n.*1988A>G) c.2109A>G (p.Gly703=) c.2106A>G (p.Gly702=) c.1920A>G (p.Gly640=) c.1053A>G (p.Gly351=) n.1758A>G n.290A>G c.2037A>G (p.Gly679=) c.1917A>G (p.Gly639=) c.1992A>G (p.Gly664=) c.2121A>G (p.Gly707=) | |
8 | g.1909361A>T | CA459054971 | ARHGEF10 | c.2034A>T (p.Gly678=) c.2562A>T c.*1988A>T (n.*1988A>T) c.2109A>T (p.Gly703=) c.2106A>T (p.Gly702=) c.1920A>T (p.Gly640=) c.1053A>T (p.Gly351=) n.1758A>T n.290A>T c.2037A>T (p.Gly679=) c.1917A>T (p.Gly639=) c.1992A>T (p.Gly664=) c.2121A>T (p.Gly707=) | dbSNP |
8 | g.1909362C>A | CA369962398 | ARHGEF10 | c.2035C>A (p.His679Asn) c.2563C>A c.*1989C>A (n.*1989C>A) c.2110C>A (p.His704Asn) c.2107C>A (p.His703Asn) c.1921C>A (p.His641Asn) c.1054C>A (p.His352Asn) n.1759C>A n.291C>A c.2038C>A (p.His680Asn) c.1918C>A (p.His640Asn) c.1993C>A (p.His665Asn) c.2122C>A (p.His708Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.1909362C= | CA1757758942 | ARHGEF10 | c.2035C= (p.His679=) c.2563C= c.*1989C= (n.*1989C=) c.2110C= (p.His704=) c.2107C= (p.His703=) c.1921C= (p.His641=) c.1054C= (p.His352=) n.1759C= n.291C= c.2038C= (p.His680=) c.1918C= (p.His640=) c.1993C= (p.His665=) c.2122C= (p.His708=) | |
8 | g.1909362C>G | CA369962399 | ARHGEF10 | c.2035C>G (p.His679Asp) c.2563C>G c.*1989C>G (n.*1989C>G) c.2110C>G (p.His704Asp) c.2107C>G (p.His703Asp) c.1921C>G (p.His641Asp) c.1054C>G (p.His352Asp) n.1759C>G n.291C>G c.2038C>G (p.His680Asp) c.1918C>G (p.His640Asp) c.1993C>G (p.His665Asp) c.2122C>G (p.His708Asp) | dbSNP |
8 | g.1909362C>T | CA369962400 | ARHGEF10 | c.2035C>T (p.His679Tyr) c.2563C>T c.*1989C>T (n.*1989C>T) c.2110C>T (p.His704Tyr) c.2107C>T (p.His703Tyr) c.1921C>T (p.His641Tyr) c.1054C>T (p.His352Tyr) n.1759C>T n.291C>T c.2038C>T (p.His680Tyr) c.1918C>T (p.His640Tyr) c.1993C>T (p.His665Tyr) c.2122C>T (p.His708Tyr) | |
8 | g.1909363A>C | CA369962402 | ARHGEF10 | c.2036A>C (p.His679Pro) c.2564A>C c.*1990A>C (n.*1990A>C) c.2111A>C (p.His704Pro) c.2108A>C (p.His703Pro) c.1922A>C (p.His641Pro) c.1055A>C (p.His352Pro) n.1760A>C n.292A>C c.2039A>C (p.His680Pro) c.1919A>C (p.His640Pro) c.1994A>C (p.His665Pro) c.2123A>C (p.His708Pro) | gnomAD v4 |
8 | g.1909363A>G | CA369962403 | ARHGEF10 | c.2036A>G (p.His679Arg) c.2564A>G c.*1990A>G (n.*1990A>G) c.2111A>G (p.His704Arg) c.2108A>G (p.His703Arg) c.1922A>G (p.His641Arg) c.1055A>G (p.His352Arg) n.1760A>G n.292A>G c.2039A>G (p.His680Arg) c.1919A>G (p.His640Arg) c.1994A>G (p.His665Arg) c.2123A>G (p.His708Arg) | dbSNP gnomAD v4 |
8 | g.1909363A>T | CA369962401 | ARHGEF10 | c.2036A>T (p.His679Leu) c.2564A>T c.*1990A>T (n.*1990A>T) c.2111A>T (p.His704Leu) c.2108A>T (p.His703Leu) c.1922A>T (p.His641Leu) c.1055A>T (p.His352Leu) n.1760A>T n.292A>T c.2039A>T (p.His680Leu) c.1919A>T (p.His640Leu) c.1994A>T (p.His665Leu) c.2123A>T (p.His708Leu) | |
8 | g.1909364T>A | CA369962404 | ARHGEF10 | c.2037T>A (p.His679Gln) c.2565T>A c.*1991T>A (n.*1991T>A) c.2112T>A (p.His704Gln) c.2109T>A (p.His703Gln) c.1923T>A (p.His641Gln) c.1056T>A (p.His352Gln) n.1761T>A n.293T>A c.2040T>A (p.His680Gln) c.1920T>A (p.His640Gln) c.1995T>A (p.His665Gln) c.2124T>A (p.His708Gln) | |
8 | g.1909364T>C | CA459054975 | ARHGEF10 | c.2037T>C (p.His679=) c.2565T>C c.*1991T>C (n.*1991T>C) c.2112T>C (p.His704=) c.2109T>C (p.His703=) c.1923T>C (p.His641=) c.1056T>C (p.His352=) n.1761T>C n.293T>C c.2040T>C (p.His680=) c.1920T>C (p.His640=) c.1995T>C (p.His665=) c.2124T>C (p.His708=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1909364T>G | CA369962405 | ARHGEF10 | c.2037T>G (p.His679Gln) c.2565T>G c.*1991T>G (n.*1991T>G) c.2112T>G (p.His704Gln) c.2109T>G (p.His703Gln) c.1923T>G (p.His641Gln) c.1056T>G (p.His352Gln) n.1761T>G n.293T>G c.2040T>G (p.His680Gln) c.1920T>G (p.His640Gln) c.1995T>G (p.His665Gln) c.2124T>G (p.His708Gln) | gnomAD v4 |
8 | g.1909364T= | CA1757758943 | ARHGEF10 | c.2037T= (p.His679=) c.2565T= c.*1991T= (n.*1991T=) c.2112T= (p.His704=) c.2109T= (p.His703=) c.1923T= (p.His641=) c.1056T= (p.His352=) n.1761T= n.293T= c.2040T= (p.His680=) c.1920T= (p.His640=) c.1995T= (p.His665=) c.2124T= (p.His708=) | |
8 | g.1909365G>A | CA369962406 | ARHGEF10 | c.2038G>A (p.Val680Met) c.2566G>A c.*1992G>A (n.*1992G>A) c.2113G>A (p.Val705Met) c.2110G>A (p.Val704Met) c.1924G>A (p.Val642Met) c.1057G>A (p.Val353Met) n.1762G>A n.294G>A c.2041G>A (p.Val681Met) c.1921G>A (p.Val641Met) c.1996G>A (p.Val666Met) c.2125G>A (p.Val709Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1909365G>C | CA369962407 | ARHGEF10 | c.2038G>C (p.Val680Leu) c.2566G>C c.*1992G>C (n.*1992G>C) c.2113G>C (p.Val705Leu) c.2110G>C (p.Val704Leu) c.1924G>C (p.Val642Leu) c.1057G>C (p.Val353Leu) n.1762G>C n.294G>C c.2041G>C (p.Val681Leu) c.1921G>C (p.Val641Leu) c.1996G>C (p.Val666Leu) c.2125G>C (p.Val709Leu) | |
8 | g.1909365G= | CA1757758945 | ARHGEF10 | c.2038G= (p.Val680=) c.2566G= c.*1992G= (n.*1992G=) c.2113G= (p.Val705=) c.2110G= (p.Val704=) c.1924G= (p.Val642=) c.1057G= (p.Val353=) n.1762G= n.294G= c.2041G= (p.Val681=) c.1921G= (p.Val641=) c.1996G= (p.Val666=) c.2125G= (p.Val709=) | |
8 | g.1909365G>T | CA369962408 | ARHGEF10 | c.2038G>T (p.Val680Leu) c.2566G>T c.*1992G>T (n.*1992G>T) c.2113G>T (p.Val705Leu) c.2110G>T (p.Val704Leu) c.1924G>T (p.Val642Leu) c.1057G>T (p.Val353Leu) n.1762G>T n.294G>T c.2041G>T (p.Val681Leu) c.1921G>T (p.Val641Leu) c.1996G>T (p.Val666Leu) c.2125G>T (p.Val709Leu) | |
8 | g.1909366T>A | CA369962411 | ARHGEF10 | c.2039T>A (p.Val680Glu) c.2567T>A c.*1993T>A (n.*1993T>A) c.2114T>A (p.Val705Glu) c.2111T>A (p.Val704Glu) c.1925T>A (p.Val642Glu) c.1058T>A (p.Val353Glu) n.1763T>A n.295T>A c.2042T>A (p.Val681Glu) c.1922T>A (p.Val641Glu) c.1997T>A (p.Val666Glu) c.2126T>A (p.Val709Glu) | |
8 | g.1909366T>C | CA369962409 | ARHGEF10 | c.2039T>C (p.Val680Ala) c.2567T>C c.*1993T>C (n.*1993T>C) c.2114T>C (p.Val705Ala) c.2111T>C (p.Val704Ala) c.1925T>C (p.Val642Ala) c.1058T>C (p.Val353Ala) n.1763T>C n.295T>C c.2042T>C (p.Val681Ala) c.1922T>C (p.Val641Ala) c.1997T>C (p.Val666Ala) c.2126T>C (p.Val709Ala) | |
8 | g.1909366T>G | CA369962410 | ARHGEF10 | c.2039T>G (p.Val680Gly) c.2567T>G c.*1993T>G (n.*1993T>G) c.2114T>G (p.Val705Gly) c.2111T>G (p.Val704Gly) c.1925T>G (p.Val642Gly) c.1058T>G (p.Val353Gly) n.1763T>G n.295T>G c.2042T>G (p.Val681Gly) c.1922T>G (p.Val641Gly) c.1997T>G (p.Val666Gly) c.2126T>G (p.Val709Gly) | |
8 | g.1909367G>A | CA459054978 | ARHGEF10 | c.2040G>A (p.Val680=) c.2568G>A c.*1994G>A (n.*1994G>A) c.2115G>A (p.Val705=) c.2112G>A (p.Val704=) c.1926G>A (p.Val642=) c.1059G>A (p.Val353=) n.1764G>A n.296G>A c.2043G>A (p.Val681=) c.1923G>A (p.Val641=) c.1998G>A (p.Val666=) c.2127G>A (p.Val709=) | gnomAD v4 |
8 | g.1909367G>C | CA459054979 | ARHGEF10 | c.2040G>C (p.Val680=) c.2568G>C c.*1994G>C (n.*1994G>C) c.2115G>C (p.Val705=) c.2112G>C (p.Val704=) c.1926G>C (p.Val642=) c.1059G>C (p.Val353=) n.1764G>C n.296G>C c.2043G>C (p.Val681=) c.1923G>C (p.Val641=) c.1998G>C (p.Val666=) c.2127G>C (p.Val709=) | |
8 | g.1909367G>T | CA459054980 | ARHGEF10 | c.2040G>T (p.Val680=) c.2568G>T c.*1994G>T (n.*1994G>T) c.2115G>T (p.Val705=) c.2112G>T (p.Val704=) c.1926G>T (p.Val642=) c.1059G>T (p.Val353=) n.1764G>T n.296G>T c.2043G>T (p.Val681=) c.1923G>T (p.Val641=) c.1998G>T (p.Val666=) c.2127G>T (p.Val709=) | |
8 | g.1909368G>A | CA369962412 | ARHGEF10 | c.2041G>A (p.Asp681Asn) c.2569G>A c.*1995G>A (n.*1995G>A) c.2116G>A (p.Asp706Asn) c.2113G>A (p.Asp705Asn) c.1927G>A (p.Asp643Asn) c.1060G>A (p.Asp354Asn) n.1765G>A n.297G>A c.2044G>A (p.Asp682Asn) c.1924G>A (p.Asp642Asn) c.1999G>A (p.Asp667Asn) c.2128G>A (p.Asp710Asn) | |
8 | g.1909368G>C | CA369962413 | ARHGEF10 | c.2041G>C (p.Asp681His) c.2569G>C c.*1995G>C (n.*1995G>C) c.2116G>C (p.Asp706His) c.2113G>C (p.Asp705His) c.1927G>C (p.Asp643His) c.1060G>C (p.Asp354His) n.1765G>C n.297G>C c.2044G>C (p.Asp682His) c.1924G>C (p.Asp642His) c.1999G>C (p.Asp667His) c.2128G>C (p.Asp710His) | |
8 | g.1909368G= | CA1757758946 | ARHGEF10 | c.2041G= (p.Asp681=) c.2569G= c.*1995G= (n.*1995G=) c.2116G= (p.Asp706=) c.2113G= (p.Asp705=) c.1927G= (p.Asp643=) c.1060G= (p.Asp354=) n.1765G= n.297G= c.2044G= (p.Asp682=) c.1924G= (p.Asp642=) c.1999G= (p.Asp667=) c.2128G= (p.Asp710=) | |
8 | g.1909368G>T | CA369962414 | ARHGEF10 | c.2041G>T (p.Asp681Tyr) c.2569G>T c.*1995G>T (n.*1995G>T) c.2116G>T (p.Asp706Tyr) c.2113G>T (p.Asp705Tyr) c.1927G>T (p.Asp643Tyr) c.1060G>T (p.Asp354Tyr) n.1765G>T n.297G>T c.2044G>T (p.Asp682Tyr) c.1924G>T (p.Asp642Tyr) c.1999G>T (p.Asp667Tyr) c.2128G>T (p.Asp710Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.1909369A= | CA1757758949 | ARHGEF10 | c.2042A= (p.Asp681=) c.2570A= c.*1996A= (n.*1996A=) c.2117A= (p.Asp706=) c.2114A= (p.Asp705=) c.1928A= (p.Asp643=) c.1061A= (p.Asp354=) n.1766A= n.298A= c.2045A= (p.Asp682=) c.1925A= (p.Asp642=) c.2000A= (p.Asp667=) c.2129A= (p.Asp710=) | |
8 | g.1909369A>C | CA369962415 | ARHGEF10 | c.2042A>C (p.Asp681Ala) c.2570A>C c.*1996A>C (n.*1996A>C) c.2117A>C (p.Asp706Ala) c.2114A>C (p.Asp705Ala) c.1928A>C (p.Asp643Ala) c.1061A>C (p.Asp354Ala) n.1766A>C n.298A>C c.2045A>C (p.Asp682Ala) c.1925A>C (p.Asp642Ala) c.2000A>C (p.Asp667Ala) c.2129A>C (p.Asp710Ala) | |
8 | g.1909369A>G | CA369962416 | ARHGEF10 | c.2042A>G (p.Asp681Gly) c.2570A>G c.*1996A>G (n.*1996A>G) c.2117A>G (p.Asp706Gly) c.2114A>G (p.Asp705Gly) c.1928A>G (p.Asp643Gly) c.1061A>G (p.Asp354Gly) n.1766A>G n.298A>G c.2045A>G (p.Asp682Gly) c.1925A>G (p.Asp642Gly) c.2000A>G (p.Asp667Gly) c.2129A>G (p.Asp710Gly) | dbSNP |
8 | g.1909369A>T | CA369962417 | ARHGEF10 | c.2042A>T (p.Asp681Val) c.2570A>T c.*1996A>T (n.*1996A>T) c.2117A>T (p.Asp706Val) c.2114A>T (p.Asp705Val) c.1928A>T (p.Asp643Val) c.1061A>T (p.Asp354Val) n.1766A>T n.298A>T c.2045A>T (p.Asp682Val) c.1925A>T (p.Asp642Val) c.2000A>T (p.Asp667Val) c.2129A>T (p.Asp710Val) | |
8 | g.1909370C>A | CA170604336 | ARHGEF10 | c.2043C>A (p.Asp681Glu) c.2571C>A c.*1997C>A (n.*1997C>A) c.2118C>A (p.Asp706Glu) c.2115C>A (p.Asp705Glu) c.1929C>A (p.Asp643Glu) c.1062C>A (p.Asp354Glu) n.1767C>A n.299C>A c.2046C>A (p.Asp682Glu) c.1926C>A (p.Asp642Glu) c.2001C>A (p.Asp667Glu) c.2130C>A (p.Asp710Glu) | dbSNP gnomAD v4 |
8 | g.1909370C= | CA1757758950 | ARHGEF10 | c.2043C= (p.Asp681=) c.2571C= c.*1997C= (n.*1997C=) c.2118C= (p.Asp706=) c.2115C= (p.Asp705=) c.1929C= (p.Asp643=) c.1062C= (p.Asp354=) n.1767C= n.299C= c.2046C= (p.Asp682=) c.1926C= (p.Asp642=) c.2001C= (p.Asp667=) c.2130C= (p.Asp710=) | |
8 | g.1909370C>G | CA369962418 | ARHGEF10 | c.2043C>G (p.Asp681Glu) c.2571C>G c.*1997C>G (n.*1997C>G) c.2118C>G (p.Asp706Glu) c.2115C>G (p.Asp705Glu) c.1929C>G (p.Asp643Glu) c.1062C>G (p.Asp354Glu) n.1767C>G n.299C>G c.2046C>G (p.Asp682Glu) c.1926C>G (p.Asp642Glu) c.2001C>G (p.Asp667Glu) c.2130C>G (p.Asp710Glu) | gnomAD v4 |
8 | g.1909370C>T | CA4600688 | ARHGEF10 | c.2043C>T (p.Asp681=) c.2571C>T c.*1997C>T (n.*1997C>T) c.2118C>T (p.Asp706=) c.2115C>T (p.Asp705=) c.1929C>T (p.Asp643=) c.1062C>T (p.Asp354=) n.1767C>T n.299C>T c.2046C>T (p.Asp682=) c.1926C>T (p.Asp642=) c.2001C>T (p.Asp667=) c.2130C>T (p.Asp710=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.1909371G>A | CA170604338 | ARHGEF10 | c.2044G>A (p.Ala682Thr) c.2572G>A c.*1998G>A (n.*1998G>A) c.2119G>A (p.Ala707Thr) c.2116G>A (p.Ala706Thr) c.1930G>A (p.Ala644Thr) c.1063G>A (p.Ala355Thr) n.1768G>A n.300G>A c.2047G>A (p.Ala683Thr) c.1927G>A (p.Ala643Thr) c.2002G>A (p.Ala668Thr) c.2131G>A (p.Ala711Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.1909371G>C | CA369962419 | ARHGEF10 | c.2044G>C (p.Ala682Pro) c.2572G>C c.*1998G>C (n.*1998G>C) c.2119G>C (p.Ala707Pro) c.2116G>C (p.Ala706Pro) c.1930G>C (p.Ala644Pro) c.1063G>C (p.Ala355Pro) n.1768G>C n.300G>C c.2047G>C (p.Ala683Pro) c.1927G>C (p.Ala643Pro) c.2002G>C (p.Ala668Pro) c.2131G>C (p.Ala711Pro) | |
8 | g.1909371G= | CA1757758952 | ARHGEF10 | c.2044G= (p.Ala682=) c.2572G= c.*1998G= (n.*1998G=) c.2119G= (p.Ala707=) c.2116G= (p.Ala706=) c.1930G= (p.Ala644=) c.1063G= (p.Ala355=) n.1768G= n.300G= c.2047G= (p.Ala683=) c.1927G= (p.Ala643=) c.2002G= (p.Ala668=) c.2131G= (p.Ala711=) | |
8 | g.1909371G>T | CA369962420 | ARHGEF10 | c.2044G>T (p.Ala682Ser) c.2572G>T c.*1998G>T (n.*1998G>T) c.2119G>T (p.Ala707Ser) c.2116G>T (p.Ala706Ser) c.1930G>T (p.Ala644Ser) c.1063G>T (p.Ala355Ser) n.1768G>T n.300G>T c.2047G>T (p.Ala683Ser) c.1927G>T (p.Ala643Ser) c.2002G>T (p.Ala668Ser) c.2131G>T (p.Ala711Ser) | |
8 | g.1909372C>A | CA369962421 | ARHGEF10 | c.2045C>A (p.Ala682Asp) c.2573C>A c.*1999C>A (n.*1999C>A) c.2120C>A (p.Ala707Asp) c.2117C>A (p.Ala706Asp) c.1931C>A (p.Ala644Asp) c.1064C>A (p.Ala355Asp) n.1769C>A n.301C>A c.2048C>A (p.Ala683Asp) c.1928C>A (p.Ala643Asp) c.2003C>A (p.Ala668Asp) c.2132C>A (p.Ala711Asp) | |
8 | g.1909372C= | CA1757758955 | ARHGEF10 | c.2045C= (p.Ala682=) c.2573C= c.*1999C= (n.*1999C=) c.2120C= (p.Ala707=) c.2117C= (p.Ala706=) c.1931C= (p.Ala644=) c.1064C= (p.Ala355=) n.1769C= n.301C= c.2048C= (p.Ala683=) c.1928C= (p.Ala643=) c.2003C= (p.Ala668=) c.2132C= (p.Ala711=) | |
8 | g.1909372C>G | CA369962422 | ARHGEF10 | c.2045C>G (p.Ala682Gly) c.2573C>G c.*1999C>G (n.*1999C>G) c.2120C>G (p.Ala707Gly) c.2117C>G (p.Ala706Gly) c.1931C>G (p.Ala644Gly) c.1064C>G (p.Ala355Gly) n.1769C>G n.301C>G c.2048C>G (p.Ala683Gly) c.1928C>G (p.Ala643Gly) c.2003C>G (p.Ala668Gly) c.2132C>G (p.Ala711Gly) | |
8 | g.1909372C>T | CA16042616 | ARHGEF10 | c.2045C>T (p.Ala682Val) c.2573C>T c.*1999C>T (n.*1999C>T) c.2120C>T (p.Ala707Val) c.2117C>T (p.Ala706Val) c.1931C>T (p.Ala644Val) c.1064C>T (p.Ala355Val) n.1769C>T n.301C>T c.2048C>T (p.Ala683Val) c.1928C>T (p.Ala643Val) c.2003C>T (p.Ala668Val) c.2132C>T (p.Ala711Val) | ClinVar dbSNP gnomAD v4 |
8 | g.1909373C>A | CA459054983 | ARHGEF10 | c.2046C>A (p.Ala682=) c.2574C>A c.*2000C>A (n.*2000C>A) c.2121C>A (p.Ala707=) c.2118C>A (p.Ala706=) c.1932C>A (p.Ala644=) c.1065C>A (p.Ala355=) n.1770C>A n.302C>A c.2049C>A (p.Ala683=) c.1929C>A (p.Ala643=) c.2004C>A (p.Ala668=) c.2133C>A (p.Ala711=) | |
8 | g.1909373C>G | CA459054984 | ARHGEF10 | c.2046C>G (p.Ala682=) c.2574C>G c.*2000C>G (n.*2000C>G) c.2121C>G (p.Ala707=) c.2118C>G (p.Ala706=) c.1932C>G (p.Ala644=) c.1065C>G (p.Ala355=) n.1770C>G n.302C>G c.2049C>G (p.Ala683=) c.1929C>G (p.Ala643=) c.2004C>G (p.Ala668=) c.2133C>G (p.Ala711=) | |
8 | g.1909373C>T | CA459054985 | ARHGEF10 | c.2046C>T (p.Ala682=) c.2574C>T c.*2000C>T (n.*2000C>T) c.2121C>T (p.Ala707=) c.2118C>T (p.Ala706=) c.1932C>T (p.Ala644=) c.1065C>T (p.Ala355=) n.1770C>T n.302C>T c.2049C>T (p.Ala683=) c.1929C>T (p.Ala643=) c.2004C>T (p.Ala668=) c.2133C>T (p.Ala711=) | |
8 | g.1909374A>C | CA369962423 | ARHGEF10 | c.2047A>C (p.Ile683Leu) c.2575A>C c.*2001A>C (n.*2001A>C) c.2122A>C (p.Ile708Leu) c.2119A>C (p.Ile707Leu) c.1933A>C (p.Ile645Leu) c.1066A>C (p.Ile356Leu) n.1771A>C n.303A>C c.2050A>C (p.Ile684Leu) c.1930A>C (p.Ile644Leu) c.2005A>C (p.Ile669Leu) c.2134A>C (p.Ile712Leu) | |
8 | g.1909374A>G | CA369962424 | ARHGEF10 | c.2047A>G (p.Ile683Val) c.2575A>G c.*2001A>G (n.*2001A>G) c.2122A>G (p.Ile708Val) c.2119A>G (p.Ile707Val) c.1933A>G (p.Ile645Val) c.1066A>G (p.Ile356Val) n.1771A>G n.303A>G c.2050A>G (p.Ile684Val) c.1930A>G (p.Ile644Val) c.2005A>G (p.Ile669Val) c.2134A>G (p.Ile712Val) | gnomAD v4 |