| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99881086C>A | CA341317860 | AGL | c.1910C>A (p.Ala637Glu) n.2121C>A c.1862C>A (p.Ala621Glu) c.1859C>A (p.Ala620Glu) c.170C>A (p.Ala57Glu) | |
| 1 | g.99881086C= | CA1183929188 | AGL | c.1910C= (p.Ala637=) n.2121C= c.1862C= (p.Ala621=) c.1859C= (p.Ala620=) c.170C= (p.Ala57=) | |
| 1 | g.99881086C>G | CA341317861 | AGL | c.1910C>G (p.Ala637Gly) n.2121C>G c.1862C>G (p.Ala621Gly) c.1859C>G (p.Ala620Gly) c.170C>G (p.Ala57Gly) | |
| 1 | g.99881086C>T | CA341317863 | AGL | c.1910C>T (p.Ala637Val) n.2121C>T c.1862C>T (p.Ala621Val) c.1859C>T (p.Ala620Val) c.170C>T (p.Ala57Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99881087G>A | CA966641 | AGL | c.1911G>A (p.Ala637=) n.2122G>A c.1863G>A (p.Ala621=) c.1860G>A (p.Ala620=) c.171G>A (p.Ala57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881087G>C | CA419314138 | AGL | c.1911G>C (p.Ala637=) n.2122G>C c.1863G>C (p.Ala621=) c.1860G>C (p.Ala620=) c.171G>C (p.Ala57=) | |
| 1 | g.99881087G= | CA1183929189 | AGL | c.1911G= (p.Ala637=) n.2122G= c.1863G= (p.Ala621=) c.1860G= (p.Ala620=) c.171G= (p.Ala57=) | |
| 1 | g.99881087G>T | CA419314139 | AGL | c.1911G>T (p.Ala637=) n.2122G>T c.1863G>T (p.Ala621=) c.1860G>T (p.Ala620=) c.171G>T (p.Ala57=) | |
| 1 | g.99881088T>A | CA341317868 | AGL | c.1912T>A (p.Tyr638Asn) n.2123T>A c.1864T>A (p.Tyr622Asn) c.1861T>A (p.Tyr621Asn) c.172T>A (p.Tyr58Asn) | |
| 1 | g.99881088T>C | CA966642 | AGL | c.1912T>C (p.Tyr638His) n.2123T>C c.1864T>C (p.Tyr622His) c.1861T>C (p.Tyr621His) c.172T>C (p.Tyr58His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881088T>G | CA341317866 | AGL | c.1912T>G (p.Tyr638Asp) n.2123T>G c.1864T>G (p.Tyr622Asp) c.1861T>G (p.Tyr621Asp) c.172T>G (p.Tyr58Asp) | |
| 1 | g.99881088T= | CA1148566868 | AGL | c.1912T= (p.Tyr638=) n.2123T= c.1864T= (p.Tyr622=) c.1861T= (p.Tyr621=) c.172T= (p.Tyr58=) | |
| 1 | g.99881088dup | CA913046873 | AGL | c.1912dup (p.Tyr638LeufsTer2) n.2123dup c.1864dup (p.Tyr622LeufsTer2) c.1861dup (p.Tyr621LeufsTer2) c.172dup (p.Tyr58LeufsTer2) | |
| 1 | g.99881089A>C | CA341317871 | AGL | c.1913A>C (p.Tyr638Ser) n.2124A>C c.1865A>C (p.Tyr622Ser) c.1862A>C (p.Tyr621Ser) c.173A>C (p.Tyr58Ser) | |
| 1 | g.99881089A>G | CA341317873 | AGL | c.1913A>G (p.Tyr638Cys) n.2124A>G c.1865A>G (p.Tyr622Cys) c.1862A>G (p.Tyr621Cys) c.173A>G (p.Tyr58Cys) | gnomAD v4 |
| 1 | g.99881089A>T | CA341317877 | AGL | c.1913A>T (p.Tyr638Phe) n.2124A>T c.1865A>T (p.Tyr622Phe) c.1862A>T (p.Tyr621Phe) c.173A>T (p.Tyr58Phe) | |
| 1 | g.99881092_99881094dup | CA658821104 | AGL | c.1916_1918dup (p.Asp639_Ala640insAsp) n.2127_2129dup c.1868_1870dup (p.Asp623_Ala624insAsp) c.1865_1867dup (p.Asp622_Ala623insAsp) c.176_178dup (p.Asp59_Ala60insAsp) | ClinVar dbSNP |
| 1 | g.99881090T>A | CA341317878 | AGL | c.1914T>A (p.Tyr638Ter) n.2125T>A c.1866T>A (p.Tyr622Ter) c.1863T>A (p.Tyr621Ter) c.174T>A (p.Tyr58Ter) | |
| 1 | g.99881090T>C | CA419314140 | AGL | c.1914T>C (p.Tyr638=) n.2125T>C c.1866T>C (p.Tyr622=) c.1863T>C (p.Tyr621=) c.174T>C (p.Tyr58=) | |
| 1 | g.99881090T>G | CA341317879 | AGL | c.1914T>G (p.Tyr638Ter) n.2125T>G c.1866T>G (p.Tyr622Ter) c.1863T>G (p.Tyr621Ter) c.174T>G (p.Tyr58Ter) | |
| 1 | g.99881091G>A | CA341317881 | AGL | c.1915G>A (p.Asp639Asn) n.2126G>A c.1867G>A (p.Asp623Asn) c.1864G>A (p.Asp622Asn) c.175G>A (p.Asp59Asn) | |
| 1 | g.99881091G>C | CA341317882 | AGL | c.1915G>C (p.Asp639His) n.2126G>C c.1867G>C (p.Asp623His) c.1864G>C (p.Asp622His) c.175G>C (p.Asp59His) | |
| 1 | g.99881091G>T | CA341317884 | AGL | c.1915G>T (p.Asp639Tyr) n.2126G>T c.1867G>T (p.Asp623Tyr) c.1864G>T (p.Asp622Tyr) c.175G>T (p.Asp59Tyr) | |
| 1 | g.99881092A= | CA1183929190 | AGL | c.1916A= (p.Asp639=) n.2127A= c.1868A= (p.Asp623=) c.1865A= (p.Asp622=) c.176A= (p.Asp59=) | |
| 1 | g.99881092A>C | CA341317886 | AGL | c.1916A>C (p.Asp639Ala) n.2127A>C c.1868A>C (p.Asp623Ala) c.1865A>C (p.Asp622Ala) c.176A>C (p.Asp59Ala) | |
| 1 | g.99881092A>G | CA341317887 | AGL | c.1916A>G (p.Asp639Gly) n.2127A>G c.1868A>G (p.Asp623Gly) c.1865A>G (p.Asp622Gly) c.176A>G (p.Asp59Gly) | |
| 1 | g.99881092A>T | CA341317888 | AGL | c.1916A>T (p.Asp639Val) n.2127A>T c.1868A>T (p.Asp623Val) c.1865A>T (p.Asp622Val) c.176A>T (p.Asp59Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881093T>A | CA341317890 | AGL | c.1917T>A (p.Asp639Glu) n.2128T>A c.1869T>A (p.Asp623Glu) c.1866T>A (p.Asp622Glu) c.177T>A (p.Asp59Glu) | |
| 1 | g.99881093T>C | CA419314141 | AGL | c.1917T>C (p.Asp639=) n.2128T>C c.1869T>C (p.Asp623=) c.1866T>C (p.Asp622=) c.177T>C (p.Asp59=) | |
| 1 | g.99881093T>G | CA341317891 | AGL | c.1917T>G (p.Asp639Glu) n.2128T>G c.1869T>G (p.Asp623Glu) c.1866T>G (p.Asp622Glu) c.177T>G (p.Asp59Glu) | |
| 1 | g.99881094G>A | CA27515787 | AGL | c.1918G>A (p.Ala640Thr) n.2129G>A c.1870G>A (p.Ala624Thr) c.1867G>A (p.Ala623Thr) c.178G>A (p.Ala60Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881094G>C | CA341317895 | AGL | c.1918G>C (p.Ala640Pro) n.2129G>C c.1870G>C (p.Ala624Pro) c.1867G>C (p.Ala623Pro) c.178G>C (p.Ala60Pro) | |
| 1 | g.99881094G= | CA1183929191 | AGL | c.1918G= (p.Ala640=) n.2129G= c.1870G= (p.Ala624=) c.1867G= (p.Ala623=) c.178G= (p.Ala60=) | |
| 1 | g.99881094G>T | CA341317893 | AGL | c.1918G>T (p.Ala640Ser) n.2129G>T c.1870G>T (p.Ala624Ser) c.1867G>T (p.Ala623Ser) c.178G>T (p.Ala60Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881095C>A | CA341317899 | AGL | c.1919C>A (p.Ala640Asp) n.2130C>A c.1871C>A (p.Ala624Asp) c.1868C>A (p.Ala623Asp) c.179C>A (p.Ala60Asp) | |
| 1 | g.99881095C= | CA1183929192 | AGL | c.1919C= (p.Ala640=) n.2130C= c.1871C= (p.Ala624=) c.1868C= (p.Ala623=) c.179C= (p.Ala60=) | |
| 1 | g.99881095C>G | CA341317901 | AGL | c.1919C>G (p.Ala640Gly) n.2130C>G c.1871C>G (p.Ala624Gly) c.1868C>G (p.Ala623Gly) c.179C>G (p.Ala60Gly) | |
| 1 | g.99881095C>T | CA341317902 | AGL | c.1919C>T (p.Ala640Val) n.2130C>T c.1871C>T (p.Ala624Val) c.1868C>T (p.Ala623Val) c.179C>T (p.Ala60Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881096T>A | CA419314142 | AGL | c.1920T>A (p.Ala640=) n.2131T>A c.1872T>A (p.Ala624=) c.1869T>A (p.Ala623=) c.180T>A (p.Ala60=) | |
| 1 | g.99881096T>C | CA419314143 | AGL | c.1920T>C (p.Ala640=) n.2131T>C c.1872T>C (p.Ala624=) c.1869T>C (p.Ala623=) c.180T>C (p.Ala60=) | |
| 1 | g.99881096T>G | CA419314144 | AGL | c.1920T>G (p.Ala640=) n.2131T>G c.1872T>G (p.Ala624=) c.1869T>G (p.Ala623=) c.180T>G (p.Ala60=) | |
| 1 | g.99881097C>A | CA341317904 | AGL | c.1921C>A (p.Leu641Ile) n.2132C>A c.1873C>A (p.Leu625Ile) c.1870C>A (p.Leu624Ile) c.181C>A (p.Leu61Ile) | |
| 1 | g.99881097C>G | CA341317905 | AGL | c.1921C>G (p.Leu641Val) n.2132C>G c.1873C>G (p.Leu625Val) c.1870C>G (p.Leu624Val) c.181C>G (p.Leu61Val) | |
| 1 | g.99881097C>T | CA341317907 | AGL | c.1921C>T (p.Leu641Phe) n.2132C>T c.1873C>T (p.Leu625Phe) c.1870C>T (p.Leu624Phe) c.181C>T (p.Leu61Phe) | COSMIC |
| 1 | g.99881098T>A | CA341317908 | AGL | c.1922T>A (p.Leu641His) n.2133T>A c.1874T>A (p.Leu625His) c.1871T>A (p.Leu624His) c.182T>A (p.Leu61His) | |
| 1 | g.99881098T>C | CA341317915 | AGL | c.1922T>C (p.Leu641Pro) n.2133T>C c.1874T>C (p.Leu625Pro) c.1871T>C (p.Leu624Pro) c.182T>C (p.Leu61Pro) | |
| 1 | g.99881098T>G | CA341317917 | AGL | c.1922T>G (p.Leu641Arg) n.2133T>G c.1874T>G (p.Leu625Arg) c.1871T>G (p.Leu624Arg) c.182T>G (p.Leu61Arg) | |
| 1 | g.99881099T>A | CA419314145 | AGL | c.1923T>A (p.Leu641=) n.2134T>A c.1875T>A (p.Leu625=) c.1872T>A (p.Leu624=) c.183T>A (p.Leu61=) | |
| 1 | g.99881099T>C | CA419314147 | AGL | c.1923T>C (p.Leu641=) n.2134T>C c.1875T>C (p.Leu625=) c.1872T>C (p.Leu624=) c.183T>C (p.Leu61=) | gnomAD v4 |
| 1 | g.99881099T>G | CA419314146 | AGL | c.1923T>G (p.Leu641=) n.2134T>G c.1875T>G (p.Leu625=) c.1872T>G (p.Leu624=) c.183T>G (p.Leu61=) | |
| 1 | g.99881099_99881100delinsTC | CA1183929193 | AGL | c.1923_1924delinsTC (p.Leu641=) n.2134_2135delinsTC c.1875_1876delinsTC (p.Leu625=) c.1872_1873delinsTC (p.Leu624=) c.183_184delinsTC (p.Leu61=) | |
| 1 | g.99881100C>A | CA341317920 | AGL | c.1924C>A (p.Pro642Thr) n.2135C>A c.1876C>A (p.Pro626Thr) c.1873C>A (p.Pro625Thr) c.184C>A (p.Pro62Thr) | |
| 1 | g.99881100C= | CA1183929194 | AGL | c.1924C= (p.Pro642=) n.2135C= c.1876C= (p.Pro626=) c.1873C= (p.Pro625=) c.184C= (p.Pro62=) | |
| 1 | g.99881100C>G | CA27515801 | AGL | c.1924C>G (p.Pro642Ala) n.2135C>G c.1876C>G (p.Pro626Ala) c.1873C>G (p.Pro625Ala) c.184C>G (p.Pro62Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881100C>T | CA341317924 | AGL | c.1924C>T (p.Pro642Ser) n.2135C>T c.1876C>T (p.Pro626Ser) c.1873C>T (p.Pro625Ser) c.184C>T (p.Pro62Ser) | |
| 1 | g.99881101del | CA966643 | AGL | c.1925del (p.Pro642GlnfsTer22) n.2136del c.1877del (p.Pro626GlnfsTer22) c.1874del (p.Pro625GlnfsTer22) c.185del (p.Pro62GlnfsTer22) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881101C>A | CA341317929 | AGL | c.1925C>A (p.Pro642Gln) n.2136C>A c.1877C>A (p.Pro626Gln) c.1874C>A (p.Pro625Gln) c.185C>A (p.Pro62Gln) | |
| 1 | g.99881101C>G | CA341317928 | AGL | c.1925C>G (p.Pro642Arg) n.2136C>G c.1877C>G (p.Pro626Arg) c.1874C>G (p.Pro625Arg) c.185C>G (p.Pro62Arg) | |
| 1 | g.99881101C>T | CA341317926 | AGL | c.1925C>T (p.Pro642Leu) n.2136C>T c.1877C>T (p.Pro626Leu) c.1874C>T (p.Pro625Leu) c.185C>T (p.Pro62Leu) | |
| 1 | g.99881102A>C | CA419314148 | AGL | c.1926A>C (p.Pro642=) n.2137A>C c.1878A>C (p.Pro626=) c.1875A>C (p.Pro625=) c.186A>C (p.Pro62=) | |
| 1 | g.99881102A>G | CA419314149 | AGL | c.1926A>G (p.Pro642=) n.2137A>G c.1878A>G (p.Pro626=) c.1875A>G (p.Pro625=) c.186A>G (p.Pro62=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881102A>T | CA419314150 | AGL | c.1926A>T (p.Pro642=) n.2137A>T c.1878A>T (p.Pro626=) c.1875A>T (p.Pro625=) c.186A>T (p.Pro62=) | |
| 1 | g.99881103A>C | CA341317932 | AGL | c.1927A>C (p.Ser643Arg) n.2138A>C c.1879A>C (p.Ser627Arg) c.1876A>C (p.Ser626Arg) c.187A>C (p.Ser63Arg) | |
| 1 | g.99881103A>G | CA341317934 | AGL | c.1927A>G (p.Ser643Gly) n.2138A>G c.1879A>G (p.Ser627Gly) c.1876A>G (p.Ser626Gly) c.187A>G (p.Ser63Gly) | |
| 1 | g.99881103A>T | CA341317933 | AGL | c.1927A>T (p.Ser643Cys) n.2138A>T c.1879A>T (p.Ser627Cys) c.1876A>T (p.Ser626Cys) c.187A>T (p.Ser63Cys) | |
| 1 | g.99881104G>A | CA341317935 | AGL | c.1928G>A (p.Ser643Asn) n.2139G>A c.1880G>A (p.Ser627Asn) c.1877G>A (p.Ser626Asn) c.188G>A (p.Ser63Asn) | dbSNP gnomAD v4 |
| 1 | g.99881104G>C | CA341317936 | AGL | c.1928G>C (p.Ser643Thr) n.2139G>C c.1880G>C (p.Ser627Thr) c.1877G>C (p.Ser626Thr) c.188G>C (p.Ser63Thr) | |
| 1 | g.99881104G= | CA1183929196 | AGL | c.1928G= (p.Ser643=) n.2139G= c.1880G= (p.Ser627=) c.1877G= (p.Ser626=) c.188G= (p.Ser63=) | |
| 1 | g.99881104G>T | CA341317938 | AGL | c.1928G>T (p.Ser643Ile) n.2139G>T c.1880G>T (p.Ser627Ile) c.1877G>T (p.Ser626Ile) c.188G>T (p.Ser63Ile) | COSMIC COSMIC |
| 1 | g.99881104_99881107delinsGTAC | CA1183929195 | AGL | c.1928_1931delinsGTAC (p.Ser643=) n.2139_2142delinsGTAC c.1880_1883delinsGTAC (p.Ser627=) c.1877_1880delinsGTAC (p.Ser626=) c.188_191delinsGTAC (p.Ser63=) | |
| 1 | g.99881105T>A | CA341317940 | AGL | c.1929T>A (p.Ser643Arg) n.2140T>A c.1881T>A (p.Ser627Arg) c.1878T>A (p.Ser626Arg) c.189T>A (p.Ser63Arg) | |
| 1 | g.99881105T>C | CA419314151 | AGL | c.1929T>C (p.Ser643=) n.2140T>C c.1881T>C (p.Ser627=) c.1878T>C (p.Ser626=) c.189T>C (p.Ser63=) | |
| 1 | g.99881105T>G | CA341317941 | AGL | c.1929T>G (p.Ser643Arg) n.2140T>G c.1881T>G (p.Ser627Arg) c.1878T>G (p.Ser626Arg) c.189T>G (p.Ser63Arg) | |
| 1 | g.99881108_99881110del | CA524878233 | AGL | c.1932_1934del (p.Thr645del) n.2143_2145del c.1884_1886del (p.Thr629del) c.1881_1883del (p.Thr628del) c.192_194del (p.Thr65del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881106A= | CA1183929197 | AGL | c.1930A= (p.Thr644=) n.2141A= c.1882A= (p.Thr628=) c.1879A= (p.Thr627=) c.190A= (p.Thr64=) | |
| 1 | g.99881106A>C | CA341317946 | AGL | c.1930A>C (p.Thr644Pro) n.2141A>C c.1882A>C (p.Thr628Pro) c.1879A>C (p.Thr627Pro) c.190A>C (p.Thr64Pro) | |
| 1 | g.99881106A>G | CA966644 | AGL | c.1930A>G (p.Thr644Ala) n.2141A>G c.1882A>G (p.Thr628Ala) c.1879A>G (p.Thr627Ala) c.190A>G (p.Thr64Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881106A>T | CA341317942 | AGL | c.1930A>T (p.Thr644Ser) n.2141A>T c.1882A>T (p.Thr628Ser) c.1879A>T (p.Thr627Ser) c.190A>T (p.Thr64Ser) | |
| 1 | g.99881107C>A | CA341317948 | AGL | c.1931C>A (p.Thr644Asn) n.2142C>A c.1883C>A (p.Thr628Asn) c.1880C>A (p.Thr627Asn) c.191C>A (p.Thr64Asn) | |
| 1 | g.99881107C>G | CA341317950 | AGL | c.1931C>G (p.Thr644Ser) n.2142C>G c.1883C>G (p.Thr628Ser) c.1880C>G (p.Thr627Ser) c.191C>G (p.Thr64Ser) | |
| 1 | g.99881107C>T | CA341317951 | AGL | c.1931C>T (p.Thr644Ile) n.2142C>T c.1883C>T (p.Thr628Ile) c.1880C>T (p.Thr627Ile) c.191C>T (p.Thr64Ile) | |
| 1 | g.99881108T>A | CA419314154 | AGL | c.1932T>A (p.Thr644=) n.2143T>A c.1884T>A (p.Thr628=) c.1881T>A (p.Thr627=) c.192T>A (p.Thr64=) | |
| 1 | g.99881108T>C | CA419314153 | AGL | c.1932T>C (p.Thr644=) n.2143T>C c.1884T>C (p.Thr628=) c.1881T>C (p.Thr627=) c.192T>C (p.Thr64=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881108T>G | CA419314152 | AGL | c.1932T>G (p.Thr644=) n.2143T>G c.1884T>G (p.Thr628=) c.1881T>G (p.Thr627=) c.192T>G (p.Thr64=) | |
| 1 | g.99881108T= | CA1183929198 | AGL | c.1932T= (p.Thr644=) n.2143T= c.1884T= (p.Thr628=) c.1881T= (p.Thr627=) c.192T= (p.Thr64=) | |
| 1 | g.99881109A= | CA1148023278 | AGL | c.1933A= (p.Thr645=) n.2144A= c.1885A= (p.Thr629=) c.1882A= (p.Thr628=) c.193A= (p.Thr65=) | |
| 1 | g.99881109A>C | CA341317952 | AGL | c.1933A>C (p.Thr645Pro) n.2144A>C c.1885A>C (p.Thr629Pro) c.1882A>C (p.Thr628Pro) c.193A>C (p.Thr65Pro) | |
| 1 | g.99881109A>G | CA966645 | AGL | c.1933A>G (p.Thr645Ala) n.2144A>G c.1885A>G (p.Thr629Ala) c.1882A>G (p.Thr628Ala) c.193A>G (p.Thr65Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881109A>T | CA341317955 | AGL | c.1933A>T (p.Thr645Ser) n.2144A>T c.1885A>T (p.Thr629Ser) c.1882A>T (p.Thr628Ser) c.193A>T (p.Thr65Ser) | |
| 1 | g.99881110C>A | CA341317957 | AGL | c.1934C>A (p.Thr645Lys) n.2145C>A c.1886C>A (p.Thr629Lys) c.1883C>A (p.Thr628Lys) c.194C>A (p.Thr65Lys) | |
| 1 | g.99881110C>G | CA341317961 | AGL | c.1934C>G (p.Thr645Arg) n.2145C>G c.1886C>G (p.Thr629Arg) c.1883C>G (p.Thr628Arg) c.194C>G (p.Thr65Arg) | |
| 1 | g.99881110C>T | CA341317959 | AGL | c.1934C>T (p.Thr645Ile) n.2145C>T c.1886C>T (p.Thr629Ile) c.1883C>T (p.Thr628Ile) c.194C>T (p.Thr65Ile) | gnomAD v4 |
| 1 | g.99881111A>C | CA419314155 | AGL | c.1935A>C (p.Thr645=) n.2146A>C c.1887A>C (p.Thr629=) c.1884A>C (p.Thr628=) c.195A>C (p.Thr65=) | |
| 1 | g.99881111A>G | CA419314156 | AGL | c.1935A>G (p.Thr645=) n.2146A>G c.1887A>G (p.Thr629=) c.1884A>G (p.Thr628=) c.195A>G (p.Thr65=) | |
| 1 | g.99881111A>T | CA419314157 | AGL | c.1935A>T (p.Thr645=) n.2146A>T c.1887A>T (p.Thr629=) c.1884A>T (p.Thr628=) c.195A>T (p.Thr65=) | |
| 1 | g.99881112A= | CA1144141823 | AGL | c.1936A= (p.Ile646=) n.2147A= c.1888A= (p.Ile630=) c.1885A= (p.Ile629=) c.196A= (p.Ile66=) | |
| 1 | g.99881112A>C | CA341317964 | AGL | c.1936A>C (p.Ile646Leu) n.2147A>C c.1888A>C (p.Ile630Leu) c.1885A>C (p.Ile629Leu) c.196A>C (p.Ile66Leu) | |
| 1 | g.99881112A>G | CA966646 | AGL | c.1936A>G (p.Ile646Val) n.2147A>G c.1888A>G (p.Ile630Val) c.1885A>G (p.Ile629Val) c.196A>G (p.Ile66Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881112A>T | CA341317966 | AGL | c.1936A>T (p.Ile646Phe) n.2147A>T c.1888A>T (p.Ile630Phe) c.1885A>T (p.Ile629Phe) c.196A>T (p.Ile66Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881113T>A | CA341317969 | AGL | c.1937T>A (p.Ile646Asn) n.2148T>A c.1889T>A (p.Ile630Asn) c.1886T>A (p.Ile629Asn) c.197T>A (p.Ile66Asn) | |
| 1 | g.99881113T>C | CA341317972 | AGL | c.1937T>C (p.Ile646Thr) n.2148T>C c.1889T>C (p.Ile630Thr) c.1886T>C (p.Ile629Thr) c.197T>C (p.Ile66Thr) | |
| 1 | g.99881113T>G | CA341317975 | AGL | c.1937T>G (p.Ile646Ser) n.2148T>G c.1889T>G (p.Ile630Ser) c.1886T>G (p.Ile629Ser) c.197T>G (p.Ile66Ser) | dbSNP |
| 1 | g.99881113T= | CA1183929199 | AGL | c.1937T= (p.Ile646=) n.2148T= c.1889T= (p.Ile630=) c.1886T= (p.Ile629=) c.197T= (p.Ile66=) | |
| 1 | g.99881115_99881117del | CA2586967091 | AGL | c.1939_1941del (p.Val647del) n.2150_2152del c.1891_1893del (p.Val631del) c.1888_1890del (p.Val630del) c.199_201del (p.Val67del) | |
| 1 | g.99881114T>A | CA419314158 | AGL | c.1938T>A (p.Ile646=) n.2149T>A c.1890T>A (p.Ile630=) c.1887T>A (p.Ile629=) c.198T>A (p.Ile66=) | |
| 1 | g.99881114T>C | CA419314159 | AGL | c.1938T>C (p.Ile646=) n.2149T>C c.1890T>C (p.Ile630=) c.1887T>C (p.Ile629=) c.198T>C (p.Ile66=) | |
| 1 | g.99881114T>G | CA341317978 | AGL | c.1938T>G (p.Ile646Met) n.2149T>G c.1890T>G (p.Ile630Met) c.1887T>G (p.Ile629Met) c.198T>G (p.Ile66Met) | gnomAD v4 |
| 1 | g.99881115G>A | CA966647 | AGL | c.1939G>A (p.Val647Ile) n.2150G>A c.1891G>A (p.Val631Ile) c.1888G>A (p.Val630Ile) c.199G>A (p.Val67Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881115G>C | CA341317980 | AGL | c.1939G>C (p.Val647Leu) n.2150G>C c.1891G>C (p.Val631Leu) c.1888G>C (p.Val630Leu) c.199G>C (p.Val67Leu) | |
| 1 | g.99881115G= | CA1183929200 | AGL | c.1939G= (p.Val647=) n.2150G= c.1891G= (p.Val631=) c.1888G= (p.Val630=) c.199G= (p.Val67=) | |
| 1 | g.99881115G>T | CA341317982 | AGL | c.1939G>T (p.Val647Phe) n.2150G>T c.1891G>T (p.Val631Phe) c.1888G>T (p.Val630Phe) c.199G>T (p.Val67Phe) | |
| 1 | g.99881116T>A | CA341318001 | AGL | c.1940T>A (p.Val647Asp) n.2151T>A c.1892T>A (p.Val631Asp) c.1889T>A (p.Val630Asp) c.200T>A (p.Val67Asp) | |
| 1 | g.99881116T>C | CA341317997 | AGL | c.1940T>C (p.Val647Ala) n.2151T>C c.1892T>C (p.Val631Ala) c.1889T>C (p.Val630Ala) c.200T>C (p.Val67Ala) | |
| 1 | g.99881116T>G | CA341317991 | AGL | c.1940T>G (p.Val647Gly) n.2151T>G c.1892T>G (p.Val631Gly) c.1889T>G (p.Val630Gly) c.200T>G (p.Val67Gly) | |
| 1 | g.99881118dup | CA2499214932 | AGL | c.1942dup (p.Ser648PhefsTer7) n.2153dup c.1894dup (p.Ser632PhefsTer7) c.1891dup (p.Ser631PhefsTer7) c.202dup (p.Ser68PhefsTer7) | ClinVar dbSNP |
| 1 | g.99881117T>A | CA419314160 | AGL | c.1941T>A (p.Val647=) n.2152T>A c.1893T>A (p.Val631=) c.1890T>A (p.Val630=) c.201T>A (p.Val67=) | |
| 1 | g.99881117T>C | CA419314161 | AGL | c.1941T>C (p.Val647=) n.2152T>C c.1893T>C (p.Val631=) c.1890T>C (p.Val630=) c.201T>C (p.Val67=) | |
| 1 | g.99881117T>G | CA419314162 | AGL | c.1941T>G (p.Val647=) n.2152T>G c.1893T>G (p.Val631=) c.1890T>G (p.Val630=) c.201T>G (p.Val67=) | |
| 1 | g.99881118T>A | CA341318004 | AGL | c.1942T>A (p.Ser648Thr) n.2153T>A c.1894T>A (p.Ser632Thr) c.1891T>A (p.Ser631Thr) c.202T>A (p.Ser68Thr) | |
| 1 | g.99881118T>C | CA341318008 | AGL | c.1942T>C (p.Ser648Pro) n.2153T>C c.1894T>C (p.Ser632Pro) c.1891T>C (p.Ser631Pro) c.202T>C (p.Ser68Pro) | dbSNP |
| 1 | g.99881118T>G | CA341318009 | AGL | c.1942T>G (p.Ser648Ala) n.2153T>G c.1894T>G (p.Ser632Ala) c.1891T>G (p.Ser631Ala) c.202T>G (p.Ser68Ala) | |
| 1 | g.99881118T= | CA1183929201 | AGL | c.1942T= (p.Ser648=) n.2153T= c.1894T= (p.Ser632=) c.1891T= (p.Ser631=) c.202T= (p.Ser68=) | |
| 1 | g.99881118_99881125del | CA2586967092 | AGL | c.1942_1949del (p.Ser648MetfsTer4) n.2153_2160del c.1894_1901del (p.Ser632MetfsTer4) c.1891_1898del (p.Ser631MetfsTer4) c.202_209del (p.Ser68MetfsTer4) | |
| 1 | g.99881119C>A | CA341318014 | AGL | c.1943C>A (p.Ser648Tyr) n.2154C>A c.1895C>A (p.Ser632Tyr) c.1892C>A (p.Ser631Tyr) c.203C>A (p.Ser68Tyr) | |
| 1 | g.99881119C= | CA1183929202 | AGL | c.1943C= (p.Ser648=) n.2154C= c.1895C= (p.Ser632=) c.1892C= (p.Ser631=) c.203C= (p.Ser68=) | |
| 1 | g.99881119C>G | CA341318015 | AGL | c.1943C>G (p.Ser648Cys) n.2154C>G c.1895C>G (p.Ser632Cys) c.1892C>G (p.Ser631Cys) c.203C>G (p.Ser68Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99881119C>T | CA341318018 | AGL | c.1943C>T (p.Ser648Phe) n.2154C>T c.1895C>T (p.Ser632Phe) c.1892C>T (p.Ser631Phe) c.203C>T (p.Ser68Phe) | |
| 1 | g.99881120T>A | CA419314163 | AGL | c.1944T>A (p.Ser648=) n.2155T>A c.1896T>A (p.Ser632=) c.1893T>A (p.Ser631=) c.204T>A (p.Ser68=) | |
| 1 | g.99881120T>C | CA419314164 | AGL | c.1944T>C (p.Ser648=) n.2155T>C c.1896T>C (p.Ser632=) c.1893T>C (p.Ser631=) c.204T>C (p.Ser68=) | dbSNP gnomAD v4 |
| 1 | g.99881120T>G | CA419314165 | AGL | c.1944T>G (p.Ser648=) n.2155T>G c.1896T>G (p.Ser632=) c.1893T>G (p.Ser631=) c.204T>G (p.Ser68=) | |
| 1 | g.99881120T= | CA1183929203 | AGL | c.1944T= (p.Ser648=) n.2155T= c.1896T= (p.Ser632=) c.1893T= (p.Ser631=) c.204T= (p.Ser68=) | |
| 1 | g.99881121A= | CA1183929204 | AGL | c.1945A= (p.Met649=) n.2156A= c.1897A= (p.Met633=) c.1894A= (p.Met632=) c.205A= (p.Met69=) | |
| 1 | g.99881121A>C | CA341318023 | AGL | c.1945A>C (p.Met649Leu) n.2156A>C c.1897A>C (p.Met633Leu) c.1894A>C (p.Met632Leu) c.205A>C (p.Met69Leu) | |
| 1 | g.99881121A>G | CA341318025 | AGL | c.1945A>G (p.Met649Val) n.2156A>G c.1897A>G (p.Met633Val) c.1894A>G (p.Met632Val) c.205A>G (p.Met69Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881121A>T | CA341318028 | AGL | c.1945A>T (p.Met649Leu) n.2156A>T c.1897A>T (p.Met633Leu) c.1894A>T (p.Met632Leu) c.205A>T (p.Met69Leu) | |
| 1 | g.99881122T>A | CA341318032 | AGL | c.1946T>A (p.Met649Lys) n.2157T>A c.1898T>A (p.Met633Lys) c.1895T>A (p.Met632Lys) c.206T>A (p.Met69Lys) | |
| 1 | g.99881122T>C | CA341318034 | AGL | c.1946T>C (p.Met649Thr) n.2157T>C c.1898T>C (p.Met633Thr) c.1895T>C (p.Met632Thr) c.206T>C (p.Met69Thr) | gnomAD v4 |
| 1 | g.99881122T>G | CA341318036 | AGL | c.1946T>G (p.Met649Arg) n.2157T>G c.1898T>G (p.Met633Arg) c.1895T>G (p.Met632Arg) c.206T>G (p.Met69Arg) | |
| 1 | g.99881123G>A | CA341318042 | AGL | c.1947G>A (p.Met649Ile) n.2158G>A c.1899G>A (p.Met633Ile) c.1896G>A (p.Met632Ile) c.207G>A (p.Met69Ile) | |
| 1 | g.99881123G>C | CA341318043 | AGL | c.1947G>C (p.Met649Ile) n.2158G>C c.1899G>C (p.Met633Ile) c.1896G>C (p.Met632Ile) c.207G>C (p.Met69Ile) | |
| 1 | g.99881123G>T | CA341318039 | AGL | c.1947G>T (p.Met649Ile) n.2158G>T c.1899G>T (p.Met633Ile) c.1896G>T (p.Met632Ile) c.207G>T (p.Met69Ile) | |
| 1 | g.99881124G>A | CA341318044 | AGL | c.1948G>A (p.Ala650Thr) n.2159G>A c.1900G>A (p.Ala634Thr) c.1897G>A (p.Ala633Thr) c.208G>A (p.Ala70Thr) | gnomAD v4 |
| 1 | g.99881124G>C | CA341318045 | AGL | c.1948G>C (p.Ala650Pro) n.2159G>C c.1900G>C (p.Ala634Pro) c.1897G>C (p.Ala633Pro) c.208G>C (p.Ala70Pro) | |
| 1 | g.99881124G>T | CA341318046 | AGL | c.1948G>T (p.Ala650Ser) n.2159G>T c.1900G>T (p.Ala634Ser) c.1897G>T (p.Ala633Ser) c.208G>T (p.Ala70Ser) | |
| 1 | g.99881125C>A | CA341318047 | AGL | c.1949C>A (p.Ala650Glu) n.2160C>A c.1901C>A (p.Ala634Glu) c.1898C>A (p.Ala633Glu) c.209C>A (p.Ala70Glu) | |
| 1 | g.99881125C>G | CA341318049 | AGL | c.1949C>G (p.Ala650Gly) n.2160C>G c.1901C>G (p.Ala634Gly) c.1898C>G (p.Ala633Gly) c.209C>G (p.Ala70Gly) | |
| 1 | g.99881125C>T | CA341318059 | AGL | c.1949C>T (p.Ala650Val) n.2160C>T c.1901C>T (p.Ala634Val) c.1898C>T (p.Ala633Val) c.209C>T (p.Ala70Val) | |
| 1 | g.99881126A= | CA1183929205 | AGL | c.1950A= (p.Ala650=) n.2161A= c.1902A= (p.Ala634=) c.1899A= (p.Ala633=) c.210A= (p.Ala70=) | |
| 1 | g.99881126A>C | CA966649 | AGL | c.1950A>C (p.Ala650=) n.2161A>C c.1902A>C (p.Ala634=) c.1899A>C (p.Ala633=) c.210A>C (p.Ala70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881126A>G | CA966648 | AGL | c.1950A>G (p.Ala650=) n.2161A>G c.1902A>G (p.Ala634=) c.1899A>G (p.Ala633=) c.210A>G (p.Ala70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881126A>T | CA419314166 | AGL | c.1950A>T (p.Ala650=) n.2161A>T c.1902A>T (p.Ala634=) c.1899A>T (p.Ala633=) c.210A>T (p.Ala70=) | |
| 1 | g.99881127T>A | CA341318066 | AGL | c.1951T>A (p.Cys651Ser) n.2162T>A c.1903T>A (p.Cys635Ser) c.1900T>A (p.Cys634Ser) c.211T>A (p.Cys71Ser) | |
| 1 | g.99881127T>C | CA341318069 | AGL | c.1951T>C (p.Cys651Arg) n.2162T>C c.1903T>C (p.Cys635Arg) c.1900T>C (p.Cys634Arg) c.211T>C (p.Cys71Arg) | |
| 1 | g.99881127T>G | CA341318072 | AGL | c.1951T>G (p.Cys651Gly) n.2162T>G c.1903T>G (p.Cys635Gly) c.1900T>G (p.Cys634Gly) c.211T>G (p.Cys71Gly) | |
| 1 | g.99881128G>A | CA341318074 | AGL | c.1952G>A (p.Cys651Tyr) n.2163G>A c.1904G>A (p.Cys635Tyr) c.1901G>A (p.Cys634Tyr) c.212G>A (p.Cys71Tyr) | dbSNP gnomAD v4 |
| 1 | g.99881128G>C | CA341318075 | AGL | c.1952G>C (p.Cys651Ser) n.2163G>C c.1904G>C (p.Cys635Ser) c.1901G>C (p.Cys634Ser) c.212G>C (p.Cys71Ser) | |
| 1 | g.99881128G= | CA1183929206 | AGL | c.1952G= (p.Cys651=) n.2163G= c.1904G= (p.Cys635=) c.1901G= (p.Cys634=) c.212G= (p.Cys71=) | |
| 1 | g.99881128G>T | CA341318078 | AGL | c.1952G>T (p.Cys651Phe) n.2163G>T c.1904G>T (p.Cys635Phe) c.1901G>T (p.Cys634Phe) c.212G>T (p.Cys71Phe) | |
| 1 | g.99881129T>A | CA341318086 | AGL | c.1953T>A (p.Cys651Ter) n.2164T>A c.1905T>A (p.Cys635Ter) c.1902T>A (p.Cys634Ter) c.213T>A (p.Cys71Ter) | |
| 1 | g.99881129T>C | CA419314167 | AGL | c.1953T>C (p.Cys651=) n.2164T>C c.1905T>C (p.Cys635=) c.1902T>C (p.Cys634=) c.213T>C (p.Cys71=) | gnomAD v4 |
| 1 | g.99881129T>G | CA341318087 | AGL | c.1953T>G (p.Cys651Trp) n.2164T>G c.1905T>G (p.Cys635Trp) c.1902T>G (p.Cys634Trp) c.213T>G (p.Cys71Trp) | |
| 1 | g.99881130T>A | CA341318088 | AGL | c.1954T>A (p.Cys652Ser) n.2165T>A c.1906T>A (p.Cys636Ser) c.1903T>A (p.Cys635Ser) c.214T>A (p.Cys72Ser) | gnomAD v2 gnomAD v4 |
| 1 | g.99881130T>C | CA341318090 | AGL | c.1954T>C (p.Cys652Arg) n.2165T>C c.1906T>C (p.Cys636Arg) c.1903T>C (p.Cys635Arg) c.214T>C (p.Cys72Arg) | |
| 1 | g.99881130T>G | CA341318089 | AGL | c.1954T>G (p.Cys652Gly) n.2165T>G c.1906T>G (p.Cys636Gly) c.1903T>G (p.Cys635Gly) c.214T>G (p.Cys72Gly) | |
| 1 | g.99881130_99881142delinsTGTGCTAGTGGAA | CA1183929207 | AGL | c.1954_1966delinsTGTGCTAGTGGAA (p.Cys652=) n.2165_2177delinsTGTGCTAGTGGAA c.1906_1918delinsTGTGCTAGTGGAA (p.Cys636=) c.1903_1915delinsTGTGCTAGTGGAA (p.Cys635=) c.214_226delinsTGTGCTAGTGGAA (p.Cys72=) | |
| 1 | g.99881131G>A | CA341318095 | AGL | c.1955G>A (p.Cys652Tyr) n.2166G>A c.1907G>A (p.Cys636Tyr) c.1904G>A (p.Cys635Tyr) c.215G>A (p.Cys72Tyr) | |
| 1 | g.99881131G>C | CA341318102 | AGL | c.1955G>C (p.Cys652Ser) n.2166G>C c.1907G>C (p.Cys636Ser) c.1904G>C (p.Cys635Ser) c.215G>C (p.Cys72Ser) | |
| 1 | g.99881131G>T | CA341318105 | AGL | c.1955G>T (p.Cys652Phe) n.2166G>T c.1907G>T (p.Cys636Phe) c.1904G>T (p.Cys635Phe) c.215G>T (p.Cys72Phe) | |
| 1 | g.99881133_99881144del | CA966650 | AGL | c.1957_1968del (p.Ala653_Ser656del) n.2168_2179del c.1909_1920del (p.Ala637_Ser640del) c.1906_1917del (p.Ala636_Ser639del) c.217_228del (p.Ala73_Ser76del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881132T>A | CA341318109 | AGL | c.1956T>A (p.Cys652Ter) n.2167T>A c.1908T>A (p.Cys636Ter) c.1905T>A (p.Cys635Ter) c.216T>A (p.Cys72Ter) | |
| 1 | g.99881132T>C | CA419314168 | AGL | c.1956T>C (p.Cys652=) n.2167T>C c.1908T>C (p.Cys636=) c.1905T>C (p.Cys635=) c.216T>C (p.Cys72=) | |
| 1 | g.99881132T>G | CA27515890 | AGL | c.1956T>G (p.Cys652Trp) n.2167T>G c.1908T>G (p.Cys636Trp) c.1905T>G (p.Cys635Trp) c.216T>G (p.Cys72Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881132T= | CA1183929208 | AGL | c.1956T= (p.Cys652=) n.2167T= c.1908T= (p.Cys636=) c.1905T= (p.Cys635=) c.216T= (p.Cys72=) | |
| 1 | g.99881133G>A | CA341318111 | AGL | c.1957G>A (p.Ala653Thr) n.2168G>A c.1909G>A (p.Ala637Thr) c.1906G>A (p.Ala636Thr) c.217G>A (p.Ala73Thr) | |
| 1 | g.99881133G>C | CA341318113 | AGL | c.1957G>C (p.Ala653Pro) n.2168G>C c.1909G>C (p.Ala637Pro) c.1906G>C (p.Ala636Pro) c.217G>C (p.Ala73Pro) | |
| 1 | g.99881133G>T | CA341318115 | AGL | c.1957G>T (p.Ala653Ser) n.2168G>T c.1909G>T (p.Ala637Ser) c.1906G>T (p.Ala636Ser) c.217G>T (p.Ala73Ser) | gnomAD v4 |
| 1 | g.99881134C>A | CA341318118 | AGL | c.1958C>A (p.Ala653Asp) n.2169C>A c.1910C>A (p.Ala637Asp) c.1907C>A (p.Ala636Asp) c.218C>A (p.Ala73Asp) | |
| 1 | g.99881134C>G | CA341318120 | AGL | c.1958C>G (p.Ala653Gly) n.2169C>G c.1910C>G (p.Ala637Gly) c.1907C>G (p.Ala636Gly) c.218C>G (p.Ala73Gly) | |
| 1 | g.99881134C>T | CA341318121 | AGL | c.1958C>T (p.Ala653Val) n.2169C>T c.1910C>T (p.Ala637Val) c.1907C>T (p.Ala636Val) c.218C>T (p.Ala73Val) | gnomAD v4 |
| 1 | g.99881135T>A | CA419314170 | AGL | c.1959T>A (p.Ala653=) n.2170T>A c.1911T>A (p.Ala637=) c.1908T>A (p.Ala636=) c.219T>A (p.Ala73=) | gnomAD v4 |
| 1 | g.99881135T>C | CA966651 | AGL | c.1959T>C (p.Ala653=) n.2170T>C c.1911T>C (p.Ala637=) c.1908T>C (p.Ala636=) c.219T>C (p.Ala73=) | dbSNP ExAC gnomAD v2 |
| 1 | g.99881135T>G | CA419314169 | AGL | c.1959T>G (p.Ala653=) n.2170T>G c.1911T>G (p.Ala637=) c.1908T>G (p.Ala636=) c.219T>G (p.Ala73=) | |
| 1 | g.99881135T= | CA1183929209 | AGL | c.1959T= (p.Ala653=) n.2170T= c.1911T= (p.Ala637=) c.1908T= (p.Ala636=) c.219T= (p.Ala73=) | |
| 1 | g.99881136A= | CA1183929210 | AGL | c.1960A= (p.Ser654=) n.2171A= c.1912A= (p.Ser638=) c.1909A= (p.Ser637=) c.220A= (p.Ser74=) | |
| 1 | g.99881136A>C | CA341318126 | AGL | c.1960A>C (p.Ser654Arg) n.2171A>C c.1912A>C (p.Ser638Arg) c.1909A>C (p.Ser637Arg) c.220A>C (p.Ser74Arg) | |
| 1 | g.99881136A>G | CA966652 | AGL | c.1960A>G (p.Ser654Gly) n.2171A>G c.1912A>G (p.Ser638Gly) c.1909A>G (p.Ser637Gly) c.220A>G (p.Ser74Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.99881136A>T | CA341318127 | AGL | c.1960A>T (p.Ser654Cys) n.2171A>T c.1912A>T (p.Ser638Cys) c.1909A>T (p.Ser637Cys) c.220A>T (p.Ser74Cys) | |
| 1 | g.99881137G>A | CA341318129 | AGL | c.1961G>A (p.Ser654Asn) n.2172G>A c.1913G>A (p.Ser638Asn) c.1910G>A (p.Ser637Asn) c.221G>A (p.Ser74Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881137G>C | CA341318132 | AGL | c.1961G>C (p.Ser654Thr) n.2172G>C c.1913G>C (p.Ser638Thr) c.1910G>C (p.Ser637Thr) c.221G>C (p.Ser74Thr) | |
| 1 | g.99881137G= | CA1183929211 | AGL | c.1961G= (p.Ser654=) n.2172G= c.1913G= (p.Ser638=) c.1910G= (p.Ser637=) c.221G= (p.Ser74=) | |
| 1 | g.99881137G>T | CA341318135 | AGL | c.1961G>T (p.Ser654Ile) n.2172G>T c.1913G>T (p.Ser638Ile) c.1910G>T (p.Ser637Ile) c.221G>T (p.Ser74Ile) | |
| 1 | g.99881138T>A | CA341318140 | AGL | c.1962T>A (p.Ser654Arg) n.2173T>A c.1914T>A (p.Ser638Arg) c.1911T>A (p.Ser637Arg) c.222T>A (p.Ser74Arg) | |
| 1 | g.99881138T>C | CA419314171 | AGL | c.1962T>C (p.Ser654=) n.2173T>C c.1914T>C (p.Ser638=) c.1911T>C (p.Ser637=) c.222T>C (p.Ser74=) | gnomAD v4 |
| 1 | g.99881138T>G | CA341318138 | AGL | c.1962T>G (p.Ser654Arg) n.2173T>G c.1914T>G (p.Ser638Arg) c.1911T>G (p.Ser637Arg) c.222T>G (p.Ser74Arg) | |
| 1 | g.99881138_99881139insCTATA | CA2572631332 | AGL | c.1962_1963insCTATA (p.Gly655LeufsTer2) n.2173_2174insCTATA c.1914_1915insCTATA (p.Gly639LeufsTer2) c.1911_1912insCTATA (p.Gly638LeufsTer2) c.222_223insCTATA (p.Gly75LeufsTer2) | |
| 1 | g.99881139G>A | CA341318143 | AGL | c.1963G>A (p.Gly655Arg) n.2174G>A c.1915G>A (p.Gly639Arg) c.1912G>A (p.Gly638Arg) c.223G>A (p.Gly75Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881139G>C | CA341318145 | AGL | c.1963G>C (p.Gly655Arg) n.2174G>C c.1915G>C (p.Gly639Arg) c.1912G>C (p.Gly638Arg) c.223G>C (p.Gly75Arg) | |
| 1 | g.99881139G= | CA1183929212 | AGL | c.1963G= (p.Gly655=) n.2174G= c.1915G= (p.Gly639=) c.1912G= (p.Gly638=) c.223G= (p.Gly75=) | |
| 1 | g.99881139G>T | CA341318147 | AGL | c.1963G>T (p.Gly655Ter) n.2174G>T c.1915G>T (p.Gly639Ter) c.1912G>T (p.Gly638Ter) c.223G>T (p.Gly75Ter) | gnomAD v4 |
| 1 | g.99881139_99881140insCATAAT | CA2510351950 | AGL | c.1963_1964insCATAAT (p.Gly655AlafsTer2) n.2174_2175insCATAAT c.1915_1916insCATAAT (p.Gly639AlafsTer2) c.1912_1913insCATAAT (p.Gly638AlafsTer2) c.223_224insCATAAT (p.Gly75AlafsTer2) | |
| 1 | g.99881140G>A | CA341318151 | AGL | c.1964G>A (p.Gly655Glu) n.2175G>A c.1916G>A (p.Gly639Glu) c.1913G>A (p.Gly638Glu) c.224G>A (p.Gly75Glu) | |
| 1 | g.99881140G>C | CA341318157 | AGL | c.1964G>C (p.Gly655Ala) n.2175G>C c.1916G>C (p.Gly639Ala) c.1913G>C (p.Gly638Ala) c.224G>C (p.Gly75Ala) | |
| 1 | g.99881140G>T | CA341318159 | AGL | c.1964G>T (p.Gly655Val) n.2175G>T c.1916G>T (p.Gly639Val) c.1913G>T (p.Gly638Val) c.224G>T (p.Gly75Val) | gnomAD v4 |
| 1 | g.99881141A= | CA1183929213 | AGL | c.1965A= (p.Gly655=) n.2176A= c.1917A= (p.Gly639=) c.1914A= (p.Gly638=) c.225A= (p.Gly75=) | |
| 1 | g.99881141A>C | CA419314172 | AGL | c.1965A>C (p.Gly655=) n.2176A>C c.1917A>C (p.Gly639=) c.1914A>C (p.Gly638=) c.225A>C (p.Gly75=) | ClinVar dbSNP |
| 1 | g.99881141A>G | CA419314174 | AGL | c.1965A>G (p.Gly655=) n.2176A>G c.1917A>G (p.Gly639=) c.1914A>G (p.Gly638=) c.225A>G (p.Gly75=) | |
| 1 | g.99881141A>T | CA419314173 | AGL | c.1965A>T (p.Gly655=) n.2176A>T c.1917A>T (p.Gly639=) c.1914A>T (p.Gly638=) c.225A>T (p.Gly75=) | |
| 1 | g.99881142A= | CA1183929214 | AGL | c.1966A= (p.Ser656=) n.2177A= c.1918A= (p.Ser640=) c.1915A= (p.Ser639=) c.226A= (p.Ser76=) | |
| 1 | g.99881142A>C | CA966653 | AGL | c.1966A>C (p.Ser656Arg) n.2177A>C c.1918A>C (p.Ser640Arg) c.1915A>C (p.Ser639Arg) c.226A>C (p.Ser76Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.99881142A>G | CA341318161 | AGL | c.1966A>G (p.Ser656Gly) n.2177A>G c.1918A>G (p.Ser640Gly) c.1915A>G (p.Ser639Gly) c.226A>G (p.Ser76Gly) | |
| 1 | g.99881142A>T | CA341318164 | AGL | c.1966A>T (p.Ser656Cys) n.2177A>T c.1918A>T (p.Ser640Cys) c.1915A>T (p.Ser639Cys) c.226A>T (p.Ser76Cys) | |
| 1 | g.99881143G>A | CA341318170 | AGL | c.1967G>A (p.Ser656Asn) n.2178G>A c.1919G>A (p.Ser640Asn) c.1916G>A (p.Ser639Asn) c.227G>A (p.Ser76Asn) | gnomAD v4 |
| 1 | g.99881143G>C | CA341318172 | AGL | c.1967G>C (p.Ser656Thr) n.2178G>C c.1919G>C (p.Ser640Thr) c.1916G>C (p.Ser639Thr) c.227G>C (p.Ser76Thr) | |
| 1 | g.99881143G>T | CA341318175 | AGL | c.1967G>T (p.Ser656Ile) n.2178G>T c.1919G>T (p.Ser640Ile) c.1916G>T (p.Ser639Ile) c.227G>T (p.Ser76Ile) | |
| 1 | g.99881144T>A | CA341318179 | AGL | c.1968T>A (p.Ser656Arg) n.2179T>A c.1920T>A (p.Ser640Arg) c.1917T>A (p.Ser639Arg) c.228T>A (p.Ser76Arg) | |
| 1 | g.99881144T>C | CA419314175 | AGL | c.1968T>C (p.Ser656=) n.2179T>C c.1920T>C (p.Ser640=) c.1917T>C (p.Ser639=) c.228T>C (p.Ser76=) | |
| 1 | g.99881144T>G | CA341318181 | AGL | c.1968T>G (p.Ser656Arg) n.2179T>G c.1920T>G (p.Ser640Arg) c.1917T>G (p.Ser639Arg) c.228T>G (p.Ser76Arg) | |
| 1 | g.99881145A>C | CA341318191 | AGL | c.1969A>C (p.Thr657Pro) n.2180A>C c.1921A>C (p.Thr641Pro) c.1918A>C (p.Thr640Pro) c.229A>C (p.Thr77Pro) | |
| 1 | g.99881145A>G | CA341318185 | AGL | c.1969A>G (p.Thr657Ala) n.2180A>G c.1921A>G (p.Thr641Ala) c.1918A>G (p.Thr640Ala) c.229A>G (p.Thr77Ala) | |
| 1 | g.99881145A>T | CA341318188 | AGL | c.1969A>T (p.Thr657Ser) n.2180A>T c.1921A>T (p.Thr641Ser) c.1918A>T (p.Thr640Ser) c.229A>T (p.Thr77Ser) | |
| 1 | g.99881146C>A | CA341318194 | AGL | c.1970C>A (p.Thr657Lys) n.2181C>A c.1922C>A (p.Thr641Lys) c.1919C>A (p.Thr640Lys) c.230C>A (p.Thr77Lys) | |
| 1 | g.99881146C= | CA1183929215 | AGL | c.1970C= (p.Thr657=) n.2181C= c.1922C= (p.Thr641=) c.1919C= (p.Thr640=) c.230C= (p.Thr77=) | |
| 1 | g.99881146C>G | CA341318195 | AGL | c.1970C>G (p.Thr657Arg) n.2181C>G c.1922C>G (p.Thr641Arg) c.1919C>G (p.Thr640Arg) c.230C>G (p.Thr77Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881146C>T | CA341318198 | AGL | c.1970C>T (p.Thr657Ile) n.2181C>T c.1922C>T (p.Thr641Ile) c.1919C>T (p.Thr640Ile) c.230C>T (p.Thr77Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881147A= | CA1183929216 | AGL | c.1971A= (p.Thr657=) n.2182A= c.1923A= (p.Thr641=) c.1920A= (p.Thr640=) c.231A= (p.Thr77=) | |
| 1 | g.99881147A>C | CA419314176 | AGL | c.1971A>C (p.Thr657=) n.2182A>C c.1923A>C (p.Thr641=) c.1920A>C (p.Thr640=) c.231A>C (p.Thr77=) | |
| 1 | g.99881147A>G | CA966654 | AGL | c.1971A>G (p.Thr657=) n.2182A>G c.1923A>G (p.Thr641=) c.1920A>G (p.Thr640=) c.231A>G (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99881147A>T | CA419314177 | AGL | c.1971A>T (p.Thr657=) n.2182A>T c.1923A>T (p.Thr641=) c.1920A>T (p.Thr640=) c.231A>T (p.Thr77=) | ClinVar dbSNP |
| 1 | g.99881148A= | CA1183929217 | AGL | c.1972A= (p.Arg658=) n.2183A= c.1924A= (p.Arg642=) c.1921A= (p.Arg641=) c.232A= (p.Arg78=) | |
| 1 | g.99881148A>C | CA419314178 | AGL | c.1972A>C (p.Arg658=) n.2183A>C c.1924A>C (p.Arg642=) c.1921A>C (p.Arg641=) c.232A>C (p.Arg78=) | dbSNP |
| 1 | g.99881148A>G | CA341318201 | AGL | c.1972A>G (p.Arg658Gly) n.2183A>G c.1924A>G (p.Arg642Gly) c.1921A>G (p.Arg641Gly) c.232A>G (p.Arg78Gly) | ClinVar dbSNP COSMIC |
| 1 | g.99881148A>T | CA341318203 | AGL | c.1972A>T (p.Arg658Ter) n.2183A>T c.1924A>T (p.Arg642Ter) c.1921A>T (p.Arg641Ter) c.232A>T (p.Arg78Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99881149G>A | CA341318210 | AGL | c.1973G>A (p.Arg658Lys) n.2184G>A c.1925G>A (p.Arg642Lys) c.1922G>A (p.Arg641Lys) c.233G>A (p.Arg78Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881149G>C | CA27515930 | AGL | c.1973G>C (p.Arg658Thr) n.2184G>C c.1925G>C (p.Arg642Thr) c.1922G>C (p.Arg641Thr) c.233G>C (p.Arg78Thr) | dbSNP |
| 1 | g.99881149G= | CA1143523787 | AGL | c.1973G= (p.Arg658=) n.2184G= c.1925G= (p.Arg642=) c.1922G= (p.Arg641=) c.233G= (p.Arg78=) | |
| 1 | g.99881149G>T | CA341318207 | AGL | c.1973G>T (p.Arg658Ile) n.2184G>T c.1925G>T (p.Arg642Ile) c.1922G>T (p.Arg641Ile) c.233G>T (p.Arg78Ile) | |
| 1 | g.99881150A>C | CA341318213 | AGL | c.1974A>C (p.Arg658Ser) n.2185A>C c.1926A>C (p.Arg642Ser) c.1923A>C (p.Arg641Ser) c.234A>C (p.Arg78Ser) | |
| 1 | g.99881150A>G | CA419314179 | AGL | c.1974A>G (p.Arg658=) n.2185A>G c.1926A>G (p.Arg642=) c.1923A>G (p.Arg641=) c.234A>G (p.Arg78=) | |
| 1 | g.99881150A>T | CA341318216 | AGL | c.1974A>T (p.Arg658Ser) n.2185A>T c.1926A>T (p.Arg642Ser) c.1923A>T (p.Arg641Ser) c.234A>T (p.Arg78Ser) | |
| 1 | g.99881151G>A | CA966655 | AGL | c.1975G>A (p.Gly659Ser) n.2186G>A c.1927G>A (p.Gly643Ser) c.1924G>A (p.Gly642Ser) c.235G>A (p.Gly79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881151G>C | CA341318219 | AGL | c.1975G>C (p.Gly659Arg) n.2186G>C c.1927G>C (p.Gly643Arg) c.1924G>C (p.Gly642Arg) c.235G>C (p.Gly79Arg) | |
| 1 | g.99881151G= | CA1183929218 | AGL | c.1975G= (p.Gly659=) n.2186G= c.1927G= (p.Gly643=) c.1924G= (p.Gly642=) c.235G= (p.Gly79=) | |
| 1 | g.99881151G>T | CA341318222 | AGL | c.1975G>T (p.Gly659Cys) n.2186G>T c.1927G>T (p.Gly643Cys) c.1924G>T (p.Gly642Cys) c.235G>T (p.Gly79Cys) | gnomAD v4 |
| 1 | g.99881152G>A | CA341318224 | AGL | c.1976G>A (p.Gly659Asp) n.2187G>A c.1928G>A (p.Gly643Asp) c.1925G>A (p.Gly642Asp) c.236G>A (p.Gly79Asp) | dbSNP gnomAD v4 |
| 1 | g.99881152G>C | CA341318227 | AGL | c.1976G>C (p.Gly659Ala) n.2187G>C c.1928G>C (p.Gly643Ala) c.1925G>C (p.Gly642Ala) c.236G>C (p.Gly79Ala) | |
| 1 | g.99881152G= | CA1183929219 | AGL | c.1976G= (p.Gly659=) n.2187G= c.1928G= (p.Gly643=) c.1925G= (p.Gly642=) c.236G= (p.Gly79=) | |
| 1 | g.99881152G>T | CA341318225 | AGL | c.1976G>T (p.Gly659Val) n.2187G>T c.1928G>T (p.Gly643Val) c.1925G>T (p.Gly642Val) c.236G>T (p.Gly79Val) | |
| 1 | g.99881153C>A | CA419314180 | AGL | c.1977C>A (p.Gly659=) n.2188C>A c.1929C>A (p.Gly643=) c.1926C>A (p.Gly642=) c.237C>A (p.Gly79=) | |
| 1 | g.99881153C>G | CA419314181 | AGL | c.1977C>G (p.Gly659=) n.2188C>G c.1929C>G (p.Gly643=) c.1926C>G (p.Gly642=) c.237C>G (p.Gly79=) | |
| 1 | g.99881153C>T | CA419314182 | AGL | c.1977C>T (p.Gly659=) n.2188C>T c.1929C>T (p.Gly643=) c.1926C>T (p.Gly642=) c.237C>T (p.Gly79=) | gnomAD v4 |
| 1 | g.99881154T>A | CA341318229 | AGL | c.1978T>A (p.Tyr660Asn) n.2189T>A c.1930T>A (p.Tyr644Asn) c.1927T>A (p.Tyr643Asn) c.238T>A (p.Tyr80Asn) | |
| 1 | g.99881154T>C | CA341318231 | AGL | c.1978T>C (p.Tyr660His) n.2189T>C c.1930T>C (p.Tyr644His) c.1927T>C (p.Tyr643His) c.238T>C (p.Tyr80His) | |
| 1 | g.99881154T>G | CA341318233 | AGL | c.1978T>G (p.Tyr660Asp) n.2189T>G c.1930T>G (p.Tyr644Asp) c.1927T>G (p.Tyr643Asp) c.238T>G (p.Tyr80Asp) | |
| 1 | g.99881155A= | CA1143001585 | AGL | c.1979A= (p.Tyr660=) n.2190A= c.1931A= (p.Tyr644=) c.1928A= (p.Tyr643=) c.239A= (p.Tyr80=) | |
| 1 | g.99881155A>C | CA966656 | AGL | c.1979A>C (p.Tyr660Ser) n.2190A>C c.1931A>C (p.Tyr644Ser) c.1928A>C (p.Tyr643Ser) c.239A>C (p.Tyr80Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881155A>G | CA341318237 | AGL | c.1979A>G (p.Tyr660Cys) n.2190A>G c.1931A>G (p.Tyr644Cys) c.1928A>G (p.Tyr643Cys) c.239A>G (p.Tyr80Cys) | ClinVar |
| 1 | g.99881155A>T | CA341318239 | AGL | c.1979A>T (p.Tyr660Phe) n.2190A>T c.1931A>T (p.Tyr644Phe) c.1928A>T (p.Tyr643Phe) c.239A>T (p.Tyr80Phe) | |
| 1 | g.99881159_99881161del | CA2574444612 | AGL | c.1983_1985del (p.Asp661del) n.2194_2196del c.1935_1937del (p.Asp645del) c.1932_1934del (p.Asp644del) c.243_245del (p.Asp81del) | |
| 1 | g.99881156T>A | CA341318241 | AGL | c.1980T>A (p.Tyr660Ter) n.2191T>A c.1932T>A (p.Tyr644Ter) c.1929T>A (p.Tyr643Ter) c.240T>A (p.Tyr80Ter) | |
| 1 | g.99881156T>C | CA419314183 | AGL | c.1980T>C (p.Tyr660=) n.2191T>C c.1932T>C (p.Tyr644=) c.1929T>C (p.Tyr643=) c.240T>C (p.Tyr80=) | ClinVar dbSNP |
| 1 | g.99881156T>G | CA341318243 | AGL | c.1980T>G (p.Tyr660Ter) n.2191T>G c.1932T>G (p.Tyr644Ter) c.1929T>G (p.Tyr643Ter) c.240T>G (p.Tyr80Ter) | |
| 1 | g.99881157G>A | CA341318246 | AGL | c.1981G>A (p.Asp661Asn) n.2192G>A c.1933G>A (p.Asp645Asn) c.1930G>A (p.Asp644Asn) c.241G>A (p.Asp81Asn) | |
| 1 | g.99881157G>C | CA341318247 | AGL | c.1981G>C (p.Asp661His) n.2192G>C c.1933G>C (p.Asp645His) c.1930G>C (p.Asp644His) c.241G>C (p.Asp81His) | |
| 1 | g.99881157G>T | CA341318249 | AGL | c.1981G>T (p.Asp661Tyr) n.2192G>T c.1933G>T (p.Asp645Tyr) c.1930G>T (p.Asp644Tyr) c.241G>T (p.Asp81Tyr) | |
| 1 | g.99881158A>C | CA341318251 | AGL | c.1982A>C (p.Asp661Ala) n.2193A>C c.1934A>C (p.Asp645Ala) c.1931A>C (p.Asp644Ala) c.242A>C (p.Asp81Ala) | |
| 1 | g.99881158A>G | CA341318254 | AGL | c.1982A>G (p.Asp661Gly) n.2193A>G c.1934A>G (p.Asp645Gly) c.1931A>G (p.Asp644Gly) c.242A>G (p.Asp81Gly) | gnomAD v4 |
| 1 | g.99881158A>T | CA341318252 | AGL | c.1982A>T (p.Asp661Val) n.2193A>T c.1934A>T (p.Asp645Val) c.1931A>T (p.Asp644Val) c.242A>T (p.Asp81Val) | |
| 1 | g.99881159T>A | CA341318256 | AGL | c.1983T>A (p.Asp661Glu) n.2194T>A c.1935T>A (p.Asp645Glu) c.1932T>A (p.Asp644Glu) c.243T>A (p.Asp81Glu) | |
| 1 | g.99881159T>C | CA419314184 | AGL | c.1983T>C (p.Asp661=) n.2194T>C c.1935T>C (p.Asp645=) c.1932T>C (p.Asp644=) c.243T>C (p.Asp81=) | |
| 1 | g.99881159T>G | CA341318258 | AGL | c.1983T>G (p.Asp661Glu) n.2194T>G c.1935T>G (p.Asp645Glu) c.1932T>G (p.Asp644Glu) c.243T>G (p.Asp81Glu) | |
| 1 | g.99881160G>A | CA341318260 | AGL | c.1984G>A (p.Glu662Lys) n.2195G>A c.1936G>A (p.Glu646Lys) c.1933G>A (p.Glu645Lys) c.244G>A (p.Glu82Lys) | gnomAD v4 |
| 1 | g.99881160G>C | CA341318261 | AGL | c.1984G>C (p.Glu662Gln) n.2195G>C c.1936G>C (p.Glu646Gln) c.1933G>C (p.Glu645Gln) c.244G>C (p.Glu82Gln) | |
| 1 | g.99881160G>T | CA341318264 | AGL | c.1984G>T (p.Glu662Ter) n.2195G>T c.1936G>T (p.Glu646Ter) c.1933G>T (p.Glu645Ter) c.244G>T (p.Glu82Ter) | |
| 1 | g.99881161A>C | CA341318266 | AGL | c.1985A>C (p.Glu662Ala) n.2196A>C c.1937A>C (p.Glu646Ala) c.1934A>C (p.Glu645Ala) c.245A>C (p.Glu82Ala) | |
| 1 | g.99881161A>G | CA341318267 | AGL | c.1985A>G (p.Glu662Gly) n.2196A>G c.1937A>G (p.Glu646Gly) c.1934A>G (p.Glu645Gly) c.245A>G (p.Glu82Gly) | |
| 1 | g.99881161A>T | CA341318269 | AGL | c.1985A>T (p.Glu662Val) n.2196A>T c.1937A>T (p.Glu646Val) c.1934A>T (p.Glu645Val) c.245A>T (p.Glu82Val) | |
| 1 | g.99881162A>C | CA341318271 | AGL | c.1986A>C (p.Glu662Asp) n.2197A>C c.1938A>C (p.Glu646Asp) c.1935A>C (p.Glu645Asp) c.246A>C (p.Glu82Asp) | |
| 1 | g.99881162A>G | CA419314185 | AGL | c.1986A>G (p.Glu662=) n.2197A>G c.1938A>G (p.Glu646=) c.1935A>G (p.Glu645=) c.246A>G (p.Glu82=) | gnomAD v3 gnomAD v4 |
| 1 | g.99881162A>T | CA341318273 | AGL | c.1986A>T (p.Glu662Asp) n.2197A>T c.1938A>T (p.Glu646Asp) c.1935A>T (p.Glu645Asp) c.246A>T (p.Glu82Asp) | |
| 1 | g.99881163T>A | CA341318275 | AGL | c.1987T>A (p.Leu663Ile) n.2198T>A c.1939T>A (p.Leu647Ile) c.1936T>A (p.Leu646Ile) c.247T>A (p.Leu83Ile) | |
| 1 | g.99881163T>C | CA419314186 | AGL | c.1987T>C (p.Leu663=) n.2198T>C c.1939T>C (p.Leu647=) c.1936T>C (p.Leu646=) c.247T>C (p.Leu83=) | |
| 1 | g.99881163T>G | CA341318277 | AGL | c.1987T>G (p.Leu663Val) n.2198T>G c.1939T>G (p.Leu647Val) c.1936T>G (p.Leu646Val) c.247T>G (p.Leu83Val) | gnomAD v4 |
| 1 | g.99881164dup | CA2646736064 | AGL | c.1988dup (p.Leu663PhefsTer11) n.2199dup c.1940dup (p.Leu647PhefsTer11) c.1937dup (p.Leu646PhefsTer11) c.248dup (p.Leu83PhefsTer11) | gnomAD v4 |
| 1 | g.99881164T>A | CA341318279 | AGL | c.1988T>A (p.Leu663Ter) n.2199T>A c.1940T>A (p.Leu647Ter) c.1937T>A (p.Leu646Ter) c.248T>A (p.Leu83Ter) | |
| 1 | g.99881164T>C | CA341318280 | AGL | c.1988T>C (p.Leu663Ser) n.2199T>C c.1940T>C (p.Leu647Ser) c.1937T>C (p.Leu646Ser) c.248T>C (p.Leu83Ser) | |
| 1 | g.99881164T>G | CA341318281 | AGL | c.1988T>G (p.Leu663Ter) n.2199T>G c.1940T>G (p.Leu647Ter) c.1937T>G (p.Leu646Ter) c.248T>G (p.Leu83Ter) | gnomAD v4 |
| 1 | g.99881165A>C | CA341318283 | AGL | c.1989A>C (p.Leu663Phe) n.2200A>C c.1941A>C (p.Leu647Phe) c.1938A>C (p.Leu646Phe) c.249A>C (p.Leu83Phe) | |
| 1 | g.99881165A>G | CA419314187 | AGL | c.1989A>G (p.Leu663=) n.2200A>G c.1941A>G (p.Leu647=) c.1938A>G (p.Leu646=) c.249A>G (p.Leu83=) | |
| 1 | g.99881165A>T | CA341318286 | AGL | c.1989A>T (p.Leu663Phe) n.2200A>T c.1941A>T (p.Leu647Phe) c.1938A>T (p.Leu646Phe) c.249A>T (p.Leu83Phe) | |
| 1 | g.99881165_99881166insTATG | CA2511561301 | AGL | c.1989_1990insTATG (p.Val664TyrfsTer11) n.2200_2201insTATG c.1941_1942insTATG (p.Val648TyrfsTer11) c.1938_1939insTATG (p.Val647TyrfsTer11) c.249_250insTATG (p.Val84TyrfsTer11) | |
| 1 | g.99881166G>A | CA341318288 | AGL | c.1990G>A (p.Val664Met) n.2201G>A c.1942G>A (p.Val648Met) c.1939G>A (p.Val647Met) c.250G>A (p.Val84Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881166G>C | CA341318290 | AGL | c.1990G>C (p.Val664Leu) n.2201G>C c.1942G>C (p.Val648Leu) c.1939G>C (p.Val647Leu) c.250G>C (p.Val84Leu) | |
| 1 | g.99881166G= | CA1183929220 | AGL | c.1990G= (p.Val664=) n.2201G= c.1942G= (p.Val648=) c.1939G= (p.Val647=) c.250G= (p.Val84=) | |
| 1 | g.99881166G>T | CA341318292 | AGL | c.1990G>T (p.Val664Leu) n.2201G>T c.1942G>T (p.Val648Leu) c.1939G>T (p.Val647Leu) c.250G>T (p.Val84Leu) | gnomAD v4 |
| 1 | g.99881167T>A | CA341318294 | AGL | c.1991T>A (p.Val664Glu) n.2202T>A c.1943T>A (p.Val648Glu) c.1940T>A (p.Val647Glu) c.251T>A (p.Val84Glu) | |
| 1 | g.99881167T>C | CA341318296 | AGL | c.1991T>C (p.Val664Ala) n.2202T>C c.1943T>C (p.Val648Ala) c.1940T>C (p.Val647Ala) c.251T>C (p.Val84Ala) | |
| 1 | g.99881167T>G | CA341318298 | AGL | c.1991T>G (p.Val664Gly) n.2202T>G c.1943T>G (p.Val648Gly) c.1940T>G (p.Val647Gly) c.251T>G (p.Val84Gly) | |
| 1 | g.99881168G>A | CA419314188 | AGL | c.1992G>A (p.Val664=) n.2203G>A c.1944G>A (p.Val648=) c.1941G>A (p.Val647=) c.252G>A (p.Val84=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99881168G>C | CA419314189 | AGL | c.1992G>C (p.Val664=) n.2203G>C c.1944G>C (p.Val648=) c.1941G>C (p.Val647=) c.252G>C (p.Val84=) | |
| 1 | g.99881168G>T | CA419314190 | AGL | c.1992G>T (p.Val664=) n.2203G>T c.1944G>T (p.Val648=) c.1941G>T (p.Val647=) c.252G>T (p.Val84=) | |
| 1 | g.99881169C>A | CA341318300 | AGL | c.1993C>A (p.Pro665Thr) n.2204C>A c.1945C>A (p.Pro649Thr) c.1942C>A (p.Pro648Thr) c.253C>A (p.Pro85Thr) | |
| 1 | g.99881169C>G | CA341318302 | AGL | c.1993C>G (p.Pro665Ala) n.2204C>G c.1945C>G (p.Pro649Ala) c.1942C>G (p.Pro648Ala) c.253C>G (p.Pro85Ala) | |
| 1 | g.99881169C>T | CA341318307 | AGL | c.1993C>T (p.Pro665Ser) n.2204C>T c.1945C>T (p.Pro649Ser) c.1942C>T (p.Pro648Ser) c.253C>T (p.Pro85Ser) | |
| 1 | g.99881170C>A | CA341318310 | AGL | c.1994C>A (p.Pro665His) n.2205C>A c.1946C>A (p.Pro649His) c.1943C>A (p.Pro648His) c.254C>A (p.Pro85His) | |
| 1 | g.99881170C>G | CA341318315 | AGL | c.1994C>G (p.Pro665Arg) n.2205C>G c.1946C>G (p.Pro649Arg) c.1943C>G (p.Pro648Arg) c.254C>G (p.Pro85Arg) | gnomAD v4 |
| 1 | g.99881170C>T | CA341318317 | AGL | c.1994C>T (p.Pro665Leu) n.2205C>T c.1946C>T (p.Pro649Leu) c.1943C>T (p.Pro648Leu) c.254C>T (p.Pro85Leu) | ClinVar gnomAD v4 |
| 1 | g.99881171T>A | CA419314192 | AGL | c.1995T>A (p.Pro665=) n.2206T>A c.1947T>A (p.Pro649=) c.1944T>A (p.Pro648=) c.255T>A (p.Pro85=) | |
| 1 | g.99881171T>C | CA419314193 | AGL | c.1995T>C (p.Pro665=) n.2206T>C c.1947T>C (p.Pro649=) c.1944T>C (p.Pro648=) c.255T>C (p.Pro85=) | |
| 1 | g.99881171T>G | CA419314191 | AGL | c.1995T>G (p.Pro665=) n.2206T>G c.1947T>G (p.Pro649=) c.1944T>G (p.Pro648=) c.255T>G (p.Pro85=) | |
| 1 | g.99881171_99881175delinsTCATC | CA1183929221 | AGL | c.1995_1999delinsTCATC (p.Pro665=) n.2206_2210delinsTCATC c.1947_1951delinsTCATC (p.Pro649=) c.1944_1948delinsTCATC (p.Pro648=) c.255_259delinsTCATC (p.Pro85=) | |
| 1 | g.99881172C>A | CA341318319 | AGL | c.1996C>A (p.His666Asn) n.2207C>A c.1948C>A (p.His650Asn) c.1945C>A (p.His649Asn) c.256C>A (p.His86Asn) | |
| 1 | g.99881172C= | CA1183929222 | AGL | c.1996C= (p.His666=) n.2207C= c.1948C= (p.His650=) c.1945C= (p.His649=) c.256C= (p.His86=) | |
| 1 | g.99881172C>G | CA341318333 | AGL | c.1996C>G (p.His666Asp) n.2207C>G c.1948C>G (p.His650Asp) c.1945C>G (p.His649Asp) c.256C>G (p.His86Asp) | |
| 1 | g.99881172C>T | CA966657 | AGL | c.1996C>T (p.His666Tyr) n.2207C>T c.1948C>T (p.His650Tyr) c.1945C>T (p.His649Tyr) c.256C>T (p.His86Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.99881172_99881175delinsT | CA10602799 | AGL | c.1996_1999delinsT (p.His666Ter) n.2207_2210delinsT c.1948_1951delinsT (p.His650Ter) c.1945_1948delinsT (p.His649Ter) c.256_259delinsT (p.His86Ter) | ClinVar dbSNP |
| 1 | g.99881173A>C | CA341318336 | AGL | c.1997A>C (p.His666Pro) n.2208A>C c.1949A>C (p.His650Pro) c.1946A>C (p.His649Pro) c.257A>C (p.His86Pro) | |
| 1 | g.99881173A>G | CA341318338 | AGL | c.1997A>G (p.His666Arg) n.2208A>G c.1949A>G (p.His650Arg) c.1946A>G (p.His649Arg) c.257A>G (p.His86Arg) | |
| 1 | g.99881173A>T | CA341318340 | AGL | c.1997A>T (p.His666Leu) n.2208A>T c.1949A>T (p.His650Leu) c.1946A>T (p.His649Leu) c.257A>T (p.His86Leu) | |
| 1 | g.99881174del | CA2695198087 | AGL | c.1998del (p.Gln667ArgfsTer?) n.2209del c.1950del (p.Gln651ArgfsTer?) c.1947del (p.Gln650ArgfsTer?) c.258del (p.Gln87ArgfsTer?) | ClinVar |
| 1 | g.99881174T>A | CA341318347 | AGL | c.1998T>A (p.His666Gln) n.2209T>A c.1950T>A (p.His650Gln) c.1947T>A (p.His649Gln) c.258T>A (p.His86Gln) | |
| 1 | g.99881174T>C | CA419314194 | AGL | c.1998T>C (p.His666=) n.2209T>C c.1950T>C (p.His650=) c.1947T>C (p.His649=) c.258T>C (p.His86=) | |
| 1 | g.99881174T>G | CA341318349 | AGL | c.1998T>G (p.His666Gln) n.2209T>G c.1950T>G (p.His650Gln) c.1947T>G (p.His649Gln) c.258T>G (p.His86Gln) | |
| 1 | g.99881174_99881175delinsTC | CA1183929223 | AGL | c.1998_1999delinsTC (p.His666=) n.2209_2210delinsTC c.1950_1951delinsTC (p.His650=) c.1947_1948delinsTC (p.His649=) c.258_259delinsTC (p.His86=) | |
| 1 | g.99881175del | CA114764 | AGL | c.1999del (p.Gln667ArgfsTer?) n.2210del c.1951del (p.Gln651ArgfsTer?) c.1948del (p.Gln650ArgfsTer?) c.259del (p.Gln87ArgfsTer?) | ClinVar dbSNP |
| 1 | g.99881175C>A | CA341318352 | AGL | c.1999C>A (p.Gln667Lys) n.2210C>A c.1951C>A (p.Gln651Lys) c.1948C>A (p.Gln650Lys) c.259C>A (p.Gln87Lys) | |
| 1 | g.99881175C= | CA1144228907 | AGL | c.1999C= (p.Gln667=) n.2210C= c.1951C= (p.Gln651=) c.1948C= (p.Gln650=) c.259C= (p.Gln87=) | |
| 1 | g.99881175C>G | CA341318353 | AGL | c.1999C>G (p.Gln667Glu) n.2210C>G c.1951C>G (p.Gln651Glu) c.1948C>G (p.Gln650Glu) c.259C>G (p.Gln87Glu) | |
| 1 | g.99881175C>T | CA341318355 | AGL | c.1999C>T (p.Gln667Ter) n.2210C>T c.1951C>T (p.Gln651Ter) c.1948C>T (p.Gln650Ter) c.259C>T (p.Gln87Ter) | |
| 1 | g.99881176A>C | CA341318358 | AGL | c.2000A>C (p.Gln667Pro) n.2211A>C c.1952A>C (p.Gln651Pro) c.1949A>C (p.Gln650Pro) c.260A>C (p.Gln87Pro) | |
| 1 | g.99881176A>G | CA341318359 | AGL | c.2000A>G (p.Gln667Arg) n.2211A>G c.1952A>G (p.Gln651Arg) c.1949A>G (p.Gln650Arg) c.260A>G (p.Gln87Arg) | gnomAD v4 |
| 1 | g.99881176A>T | CA341318362 | AGL | c.2000A>T (p.Gln667Leu) n.2211A>T c.1952A>T (p.Gln651Leu) c.1949A>T (p.Gln650Leu) c.260A>T (p.Gln87Leu) | |
| 1 | g.99881177G>A | CA419314195 | AGL | c.2001G>A (p.Gln667=) n.2212G>A c.1953G>A (p.Gln651=) c.1950G>A (p.Gln650=) c.261G>A (p.Gln87=) | |
| 1 | g.99881177G>C | CA341318364 | AGL | c.2001G>C (p.Gln667His) n.2212G>C c.1953G>C (p.Gln651His) c.1950G>C (p.Gln650His) c.261G>C (p.Gln87His) | |
| 1 | g.99881177G>T | CA341318366 | AGL | c.2001G>T (p.Gln667His) n.2212G>T c.1953G>T (p.Gln651His) c.1950G>T (p.Gln650His) c.261G>T (p.Gln87His) | |
| 1 | g.99881178G>A | CA341318368 | AGL | c.2001+1G>A (n.2001+1G>A) n.2212+1G>A c.1953+1G>A (n.1953+1G>A) c.1950+1G>A (n.1950+1G>A) c.261+1G>A (n.261+1G>A) | |
| 1 | g.99881178G>C | CA341318370 | AGL | c.2001+1G>C (n.2001+1G>C) n.2212+1G>C c.1953+1G>C (n.1953+1G>C) c.1950+1G>C (n.1950+1G>C) c.261+1G>C (n.261+1G>C) | COSMIC |
| 1 | g.99881178G>T | CA341318372 | AGL | c.2001+1G>T (n.2001+1G>T) n.2212+1G>T c.1953+1G>T (n.1953+1G>T) c.1950+1G>T (n.1950+1G>T) c.261+1G>T (n.261+1G>T) | ClinVar |
| 1 | g.99881179T>A | CA341318374 | AGL | c.2001+2T>A (n.2001+2T>A) n.2212+2T>A c.1953+2T>A (n.1953+2T>A) c.1950+2T>A (n.1950+2T>A) c.261+2T>A (n.261+2T>A) | |
| 1 | g.99881179T>C | CA16040833 | AGL | c.2001+2T>C (n.2001+2T>C) n.2212+2T>C c.1953+2T>C (n.1953+2T>C) c.1950+2T>C (n.1950+2T>C) c.261+2T>C (n.261+2T>C) | ClinVar dbSNP |
| 1 | g.99881179T>G | CA341318381 | AGL | c.2001+2T>G (n.2001+2T>G) n.2212+2T>G c.1953+2T>G (n.1953+2T>G) c.1950+2T>G (n.1950+2T>G) c.261+2T>G (n.261+2T>G) | |
| 1 | g.99881179T= | CA1183929224 | AGL | c.2001+2T= (n.2001+2T=) n.2212+2T= c.1953+2T= (n.1953+2T=) c.1950+2T= (n.1950+2T=) c.261+2T= (n.261+2T=) | |
| 1 | g.99881180T>G | CA524878234 | AGL | c.2001+3T>G (n.2001+3T>G) n.2212+3T>G c.1953+3T>G (n.1953+3T>G) c.1950+3T>G (n.1950+3T>G) c.261+3T>G (n.261+3T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881180T= | CA1183929225 | AGL | c.2001+3T= (n.2001+3T=) n.2212+3T= c.1953+3T= (n.1953+3T=) c.1950+3T= (n.1950+3T=) c.261+3T= (n.261+3T=) | |
| 1 | g.99881181T>C | CA27515952 | AGL | c.2001+4T>C (n.2001+4T>C) n.2212+4T>C c.1953+4T>C (n.1953+4T>C) c.1950+4T>C (n.1950+4T>C) c.261+4T>C (n.261+4T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881181T= | CA1183929226 | AGL | c.2001+4T= (n.2001+4T=) n.2212+4T= c.1953+4T= (n.1953+4T=) c.1950+4T= (n.1950+4T=) c.261+4T= (n.261+4T=) | |
| 1 | g.99881182_99881194dup | CA2646736080 | AGL | c.2001+5_2001+17dup (n.2001+5_2001+17dup) n.2212+5_2212+17dup c.1953+5_1953+17dup (n.1953+5_1953+17dup) c.1950+5_1950+17dup (n.1950+5_1950+17dup) c.261+5_261+17dup (n.261+5_261+17dup) | gnomAD v4 |
| 1 | g.99881182G>A | CA658795486 | AGL | c.2001+5G>A (n.2001+5G>A) n.2212+5G>A c.1953+5G>A (n.1953+5G>A) c.1950+5G>A (n.1950+5G>A) c.261+5G>A (n.261+5G>A) | ClinVar dbSNP |
| 1 | g.99881182G>C | CA2646736089 | AGL | c.2001+5G>C (n.2001+5G>C) n.2212+5G>C c.1953+5G>C (n.1953+5G>C) c.1950+5G>C (n.1950+5G>C) c.261+5G>C (n.261+5G>C) | gnomAD v4 |
| 1 | g.99881182G= | CA1183929227 | AGL | c.2001+5G= (n.2001+5G=) n.2212+5G= c.1953+5G= (n.1953+5G=) c.1950+5G= (n.1950+5G=) c.261+5G= (n.261+5G=) | |
| 1 | g.99881185T>A | CA1183929229 | AGL | c.2001+8T>A (n.2001+8T>A) n.2212+8T>A c.1953+8T>A (n.1953+8T>A) c.1950+8T>A (n.1950+8T>A) c.261+8T>A (n.261+8T>A) | dbSNP gnomAD v4 |
| 1 | g.99881185T>C | CA966658 | AGL | c.2001+8T>C (n.2001+8T>C) n.2212+8T>C c.1953+8T>C (n.1953+8T>C) c.1950+8T>C (n.1950+8T>C) c.261+8T>C (n.261+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99881185T>G | CA2581743531 | AGL | c.2001+8T>G (n.2001+8T>G) n.2212+8T>G c.1953+8T>G (n.1953+8T>G) c.1950+8T>G (n.1950+8T>G) c.261+8T>G (n.261+8T>G) | |
| 1 | g.99881185T= | CA1139990701 | AGL | c.2001+8T= (n.2001+8T=) n.2212+8T= c.1953+8T= (n.1953+8T=) c.1950+8T= (n.1950+8T=) c.261+8T= (n.261+8T=) | |
| 1 | g.99881185_99881186delinsCG | CA1139656248 | AGL | c.2001+8_2001+9delinsCG (n.2001+8_2001+9delinsCG) n.2212+8_2212+9delinsCG c.1953+8_1953+9delinsCG (n.1953+8_1953+9delinsCG) c.1950+8_1950+9delinsCG (n.1950+8_1950+9delinsCG) c.261+8_261+9delinsCG (n.261+8_261+9delinsCG) | ClinVar dbSNP |
| 1 | g.99881185_99881186delinsCT | CA16617219 | AGL | c.2001+8_2001+9delinsCT (n.2001+8_2001+9delinsCT) n.2212+8_2212+9delinsCT c.1953+8_1953+9delinsCT (n.1953+8_1953+9delinsCT) c.1950+8_1950+9delinsCT (n.1950+8_1950+9delinsCT) c.261+8_261+9delinsCT (n.261+8_261+9delinsCT) | ClinVar dbSNP |
| 1 | g.99881185_99881186delinsTA | CA1183929228 | AGL | c.2001+8_2001+9delinsTA (n.2001+8_2001+9delinsTA) n.2212+8_2212+9delinsTA c.1953+8_1953+9delinsTA (n.1953+8_1953+9delinsTA) c.1950+8_1950+9delinsTA (n.1950+8_1950+9delinsTA) c.261+8_261+9delinsTA (n.261+8_261+9delinsTA) | |
| 1 | g.99881186A= | CA1183929230 | AGL | c.2001+9A= (n.2001+9A=) n.2212+9A= c.1953+9A= (n.1953+9A=) c.1950+9A= (n.1950+9A=) c.261+9A= (n.261+9A=) | |
| 1 | g.99881186A>T | CA524878235 | AGL | c.2001+9A>T (n.2001+9A>T) n.2212+9A>T c.1953+9A>T (n.1953+9A>T) c.1950+9A>T (n.1950+9A>T) c.261+9A>T (n.261+9A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99881187_99881188insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT | CA1004951701 | AGL | c.2001+10_2001+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT (n.2001+10_2001+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT) n.2212+10_2212+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT c.1953+10_1953+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT (n.1953+10_1953+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT) c.1950+10_1950+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT (n.1950+10_1950+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT) c.261+10_261+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT (n.261+10_261+11insGTTGTTTCAAACCTGATGAGGCACTAATTCATCTATGATGAATTAGTGCCTCATCAGGTTTGTTCAT) | gnomAD v3 gnomAD v4 |