Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53405278T>A | CA413252212 | SMC1A | c.2025A>T (p.Lys675Asn) c.1257A>T (p.Lys419Asn) n.1377A>T c.1959A>T (p.Lys653Asn) | |
X | g.53405278T>C | CA516688106 | SMC1A | c.2025A>G (p.Lys675=) c.1257A>G (p.Lys419=) n.1377A>G c.1959A>G (p.Lys653=) | |
X | g.53405278T>G | CA413252213 | SMC1A | c.2025A>C (p.Lys675Asn) c.1257A>C (p.Lys419Asn) n.1377A>C c.1959A>C (p.Lys653Asn) | |
X | g.53405279T>A | CA413252214 | SMC1A | c.2024A>T (p.Lys675Ile) c.1256A>T (p.Lys419Ile) n.1376A>T c.1958A>T (p.Lys653Ile) | |
X | g.53405279T>C | CA413252215 | SMC1A | c.2024A>G (p.Lys675Arg) c.1256A>G (p.Lys419Arg) n.1376A>G c.1958A>G (p.Lys653Arg) | |
X | g.53405279T>G | CA413252217 | SMC1A | c.2024A>C (p.Lys675Thr) c.1256A>C (p.Lys419Thr) n.1376A>C c.1958A>C (p.Lys653Thr) | |
X | g.53405280T>A | CA413252220 | SMC1A | c.2023A>T (p.Lys675Ter) c.1255A>T (p.Lys419Ter) n.1375A>T c.1957A>T (p.Lys653Ter) | |
X | g.53405280T>C | CA413252224 | SMC1A | c.2023A>G (p.Lys675Glu) c.1255A>G (p.Lys419Glu) n.1375A>G c.1957A>G (p.Lys653Glu) | |
X | g.53405280T>G | CA413252222 | SMC1A | c.2023A>C (p.Lys675Gln) c.1255A>C (p.Lys419Gln) n.1375A>C c.1957A>C (p.Lys653Gln) | |
X | g.53405281C>A | CA413252225 | SMC1A | c.2022G>T (p.Leu674Phe) c.1254G>T (p.Leu418Phe) n.1374G>T c.1956G>T (p.Leu652Phe) | |
X | g.53405281C>G | CA413252226 | SMC1A | c.2022G>C (p.Leu674Phe) c.1254G>C (p.Leu418Phe) n.1374G>C c.1956G>C (p.Leu652Phe) | |
X | g.53405281C>T | CA516688110 | SMC1A | c.2022G>A (p.Leu674=) c.1254G>A (p.Leu418=) n.1374G>A c.1956G>A (p.Leu652=) | gnomAD v4 |
X | g.53405282A>C | CA413252229 | SMC1A | c.2021T>G (p.Leu674Trp) c.1253T>G (p.Leu418Trp) n.1373T>G c.1955T>G (p.Leu652Trp) | |
X | g.53405282A>G | CA413252230 | SMC1A | c.2021T>C (p.Leu674Ser) c.1253T>C (p.Leu418Ser) n.1373T>C c.1955T>C (p.Leu652Ser) | |
X | g.53405282A>T | CA413252232 | SMC1A | c.2021T>A (p.Leu674Ter) c.1253T>A (p.Leu418Ter) n.1373T>A c.1955T>A (p.Leu652Ter) | |
X | g.53405283A>C | CA413252233 | SMC1A | c.2020T>G (p.Leu674Val) c.1252T>G (p.Leu418Val) n.1372T>G c.1954T>G (p.Leu652Val) | |
X | g.53405283A>G | CA516688112 | SMC1A | c.2020T>C (p.Leu674=) c.1252T>C (p.Leu418=) n.1372T>C c.1954T>C (p.Leu652=) | |
X | g.53405283A>T | CA413252237 | SMC1A | c.2020T>A (p.Leu674Met) c.1252T>A (p.Leu418Met) n.1372T>A c.1954T>A (p.Leu652Met) | |
X | g.53405284C>A | CA413252239 | SMC1A | c.2019G>T (p.Lys673Asn) c.1251G>T (p.Lys417Asn) n.1371G>T c.1953G>T (p.Lys651Asn) | |
X | g.53405284C>G | CA413252240 | SMC1A | c.2019G>C (p.Lys673Asn) c.1251G>C (p.Lys417Asn) n.1371G>C c.1953G>C (p.Lys651Asn) | |
X | g.53405284C>T | CA516688113 | SMC1A | c.2019G>A (p.Lys673=) c.1251G>A (p.Lys417=) n.1371G>A c.1953G>A (p.Lys651=) | |
X | g.53405285T>A | CA413252241 | SMC1A | c.2018A>T (p.Lys673Met) c.1250A>T (p.Lys417Met) n.1370A>T c.1952A>T (p.Lys651Met) | |
X | g.53405285T>C | CA413252243 | SMC1A | c.2018A>G (p.Lys673Arg) c.1250A>G (p.Lys417Arg) n.1370A>G c.1952A>G (p.Lys651Arg) | gnomAD v4 |
X | g.53405285T>G | CA413252244 | SMC1A | c.2018A>C (p.Lys673Thr) c.1250A>C (p.Lys417Thr) n.1370A>C c.1952A>C (p.Lys651Thr) | |
X | g.53405286T>A | CA413252245 | SMC1A | c.2017A>T (p.Lys673Ter) c.1249A>T (p.Lys417Ter) n.1369A>T c.1951A>T (p.Lys651Ter) | |
X | g.53405286T>C | CA413252247 | SMC1A | c.2017A>G (p.Lys673Glu) c.1249A>G (p.Lys417Glu) n.1369A>G c.1951A>G (p.Lys651Glu) | |
X | g.53405286T>G | CA413252248 | SMC1A | c.2017A>C (p.Lys673Gln) c.1249A>C (p.Lys417Gln) n.1369A>C c.1951A>C (p.Lys651Gln) | |
X | g.53405287G>A | CA10420491 | SMC1A | c.2016C>T (p.Asp672=) c.1248C>T (p.Asp416=) n.1368C>T c.1950C>T (p.Asp650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53405287G>C | CA10420492 | SMC1A | c.2016C>G (p.Asp672Glu) c.1248C>G (p.Asp416Glu) n.1368C>G c.1950C>G (p.Asp650Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405287G= | CA2429825247 | SMC1A | c.2016C= (p.Asp672=) c.1248C= (p.Asp416=) n.1368C= c.1950C= (p.Asp650=) | |
X | g.53405287G>T | CA413252250 | SMC1A | c.2016C>A (p.Asp672Glu) c.1248C>A (p.Asp416Glu) n.1368C>A c.1950C>A (p.Asp650Glu) | |
X | g.53405288T>A | CA413252253 | SMC1A | c.2015A>T (p.Asp672Val) c.1247A>T (p.Asp416Val) n.1367A>T c.1949A>T (p.Asp650Val) | |
X | g.53405288T>C | CA413252254 | SMC1A | c.2015A>G (p.Asp672Gly) c.1247A>G (p.Asp416Gly) n.1367A>G c.1949A>G (p.Asp650Gly) | |
X | g.53405288T>G | CA413252256 | SMC1A | c.2015A>C (p.Asp672Ala) c.1247A>C (p.Asp416Ala) n.1367A>C c.1949A>C (p.Asp650Ala) | |
X | g.53405289C>A | CA413252258 | SMC1A | c.2014G>T (p.Asp672Tyr) c.1246G>T (p.Asp416Tyr) n.1366G>T c.1948G>T (p.Asp650Tyr) | |
X | g.53405289C>G | CA413252260 | SMC1A | c.2014G>C (p.Asp672His) c.1246G>C (p.Asp416His) n.1366G>C c.1948G>C (p.Asp650His) | |
X | g.53405289C>T | CA413252262 | SMC1A | c.2014G>A (p.Asp672Asn) c.1246G>A (p.Asp416Asn) n.1366G>A c.1948G>A (p.Asp650Asn) | |
X | g.53405290T>A | CA516688119 | SMC1A | c.2013A>T (p.Val671=) c.1245A>T (p.Val415=) n.1365A>T c.1947A>T (p.Val649=) | |
X | g.53405290T>C | CA10420493 | SMC1A | c.2013A>G (p.Val671=) c.1245A>G (p.Val415=) n.1365A>G c.1947A>G (p.Val649=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405290T>G | CA516688122 | SMC1A | c.2013A>C (p.Val671=) c.1245A>C (p.Val415=) n.1365A>C c.1947A>C (p.Val649=) | |
X | g.53405290T= | CA2429825248 | SMC1A | c.2013A= (p.Val671=) c.1245A= (p.Val415=) n.1365A= c.1947A= (p.Val649=) | |
X | g.53405291A>C | CA413252265 | SMC1A | c.2012T>G (p.Val671Gly) c.1244T>G (p.Val415Gly) n.1364T>G c.1946T>G (p.Val649Gly) | |
X | g.53405291A>G | CA413252266 | SMC1A | c.2012T>C (p.Val671Ala) c.1244T>C (p.Val415Ala) n.1364T>C c.1946T>C (p.Val649Ala) | |
X | g.53405291A>T | CA413252268 | SMC1A | c.2012T>A (p.Val671Glu) c.1244T>A (p.Val415Glu) n.1364T>A c.1946T>A (p.Val649Glu) | |
X | g.53405292C>A | CA413252272 | SMC1A | c.2011G>T (p.Val671Leu) c.1243G>T (p.Val415Leu) n.1363G>T c.1945G>T (p.Val649Leu) | |
X | g.53405292C>G | CA413252271 | SMC1A | c.2011G>C (p.Val671Leu) c.1243G>C (p.Val415Leu) n.1363G>C c.1945G>C (p.Val649Leu) | |
X | g.53405292C>T | CA413252270 | SMC1A | c.2011G>A (p.Val671Ile) c.1243G>A (p.Val415Ile) n.1363G>A c.1945G>A (p.Val649Ile) | ClinVar gnomAD v4 |
X | g.53405293T>A | CA516688128 | SMC1A | c.2010A>T (p.Ala670=) c.1242A>T (p.Ala414=) n.1362A>T c.1944A>T (p.Ala648=) | |
X | g.53405293T>C | CA10420494 | SMC1A | c.2010A>G (p.Ala670=) c.1242A>G (p.Ala414=) n.1362A>G c.1944A>G (p.Ala648=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405293T>G | CA516688129 | SMC1A | c.2010A>C (p.Ala670=) c.1242A>C (p.Ala414=) n.1362A>C c.1944A>C (p.Ala648=) | |
X | g.53405293T= | CA2429825249 | SMC1A | c.2010A= (p.Ala670=) c.1242A= (p.Ala414=) n.1362A= c.1944A= (p.Ala648=) | |
X | g.53405294G>A | CA413252275 | SMC1A | c.2009C>T (p.Ala670Val) c.1241C>T (p.Ala414Val) n.1361C>T c.1943C>T (p.Ala648Val) | |
X | g.53405294G>C | CA413252277 | SMC1A | c.2009C>G (p.Ala670Gly) c.1241C>G (p.Ala414Gly) n.1361C>G c.1943C>G (p.Ala648Gly) | |
X | g.53405294G>T | CA413252278 | SMC1A | c.2009C>A (p.Ala670Glu) c.1241C>A (p.Ala414Glu) n.1361C>A c.1943C>A (p.Ala648Glu) | |
X | g.53405295C>A | CA413252280 | SMC1A | c.2008G>T (p.Ala670Ser) c.1240G>T (p.Ala414Ser) n.1360G>T c.1942G>T (p.Ala648Ser) | |
X | g.53405295C>G | CA413252282 | SMC1A | c.2008G>C (p.Ala670Pro) c.1240G>C (p.Ala414Pro) n.1360G>C c.1942G>C (p.Ala648Pro) | |
X | g.53405295C>T | CA413252283 | SMC1A | c.2008G>A (p.Ala670Thr) c.1240G>A (p.Ala414Thr) n.1360G>A c.1942G>A (p.Ala648Thr) | |
X | g.53405296T>A | CA413252285 | SMC1A | c.2007A>T (p.Lys669Asn) c.1239A>T (p.Lys413Asn) n.1359A>T c.1941A>T (p.Lys647Asn) | |
X | g.53405296T>C | CA516688137 | SMC1A | c.2007A>G (p.Lys669=) c.1239A>G (p.Lys413=) n.1359A>G c.1941A>G (p.Lys647=) | |
X | g.53405296T>G | CA413252286 | SMC1A | c.2007A>C (p.Lys669Asn) c.1239A>C (p.Lys413Asn) n.1359A>C c.1941A>C (p.Lys647Asn) | |
X | g.53405297T>A | CA413252288 | SMC1A | c.2006A>T (p.Lys669Ile) c.1238A>T (p.Lys413Ile) n.1358A>T c.1940A>T (p.Lys647Ile) | |
X | g.53405297T>C | CA413252289 | SMC1A | c.2006A>G (p.Lys669Arg) c.1238A>G (p.Lys413Arg) n.1358A>G c.1940A>G (p.Lys647Arg) | |
X | g.53405297T>G | CA413252291 | SMC1A | c.2006A>C (p.Lys669Thr) c.1238A>C (p.Lys413Thr) n.1358A>C c.1940A>C (p.Lys647Thr) | |
X | g.53405298T>A | CA413252297 | SMC1A | c.2005A>T (p.Lys669Ter) c.1237A>T (p.Lys413Ter) n.1357A>T c.1939A>T (p.Lys647Ter) | |
X | g.53405298T>C | CA413252296 | SMC1A | c.2005A>G (p.Lys669Glu) c.1237A>G (p.Lys413Glu) n.1357A>G c.1939A>G (p.Lys647Glu) | |
X | g.53405298T>G | CA413252293 | SMC1A | c.2005A>C (p.Lys669Gln) c.1237A>C (p.Lys413Gln) n.1357A>C c.1939A>C (p.Lys647Gln) | |
X | g.53405299C>A | CA413252299 | SMC1A | c.2004G>T (p.Glu668Asp) c.1236G>T (p.Glu412Asp) n.1356G>T c.1938G>T (p.Glu646Asp) | |
X | g.53405299C= | CA2429825250 | SMC1A | c.2004G= (p.Glu668=) c.1236G= (p.Glu412=) n.1356G= c.1938G= (p.Glu646=) | |
X | g.53405299C>G | CA413252301 | SMC1A | c.2004G>C (p.Glu668Asp) c.1236G>C (p.Glu412Asp) n.1356G>C c.1938G>C (p.Glu646Asp) | |
X | g.53405299C>T | CA516688145 | SMC1A | c.2004G>A (p.Glu668=) c.1236G>A (p.Glu412=) n.1356G>A c.1938G>A (p.Glu646=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53405300T>A | CA413252303 | SMC1A | c.2003A>T (p.Glu668Val) c.1235A>T (p.Glu412Val) n.1355A>T c.1937A>T (p.Glu646Val) | |
X | g.53405300T>C | CA413252305 | SMC1A | c.2003A>G (p.Glu668Gly) c.1235A>G (p.Glu412Gly) n.1355A>G c.1937A>G (p.Glu646Gly) | |
X | g.53405300T>G | CA413252307 | SMC1A | c.2003A>C (p.Glu668Ala) c.1235A>C (p.Glu412Ala) n.1355A>C c.1937A>C (p.Glu646Ala) | |
X | g.53405301C>A | CA413252309 | SMC1A | c.2002G>T (p.Glu668Ter) c.1234G>T (p.Glu412Ter) n.1354G>T c.1936G>T (p.Glu646Ter) | |
X | g.53405301C>G | CA413252311 | SMC1A | c.2002G>C (p.Glu668Gln) c.1234G>C (p.Glu412Gln) n.1354G>C c.1936G>C (p.Glu646Gln) | |
X | g.53405301C>T | CA413252312 | SMC1A | c.2002G>A (p.Glu668Lys) c.1234G>A (p.Glu412Lys) n.1354G>A c.1936G>A (p.Glu646Lys) | |
X | g.53405302A>C | CA413252314 | SMC1A | c.2001T>G (p.Asp667Glu) c.1233T>G (p.Asp411Glu) n.1353T>G c.1935T>G (p.Asp645Glu) | |
X | g.53405302A>G | CA516688149 | SMC1A | c.2001T>C (p.Asp667=) c.1233T>C (p.Asp411=) n.1353T>C c.1935T>C (p.Asp645=) | |
X | g.53405302A>T | CA413252315 | SMC1A | c.2001T>A (p.Asp667Glu) c.1233T>A (p.Asp411Glu) n.1353T>A c.1935T>A (p.Asp645Glu) | |
X | g.53405303T>A | CA413252317 | SMC1A | c.2000A>T (p.Asp667Val) c.1232A>T (p.Asp411Val) n.1352A>T c.1934A>T (p.Asp645Val) | ClinVar |
X | g.53405303T>C | CA413252319 | SMC1A | c.2000A>G (p.Asp667Gly) c.1232A>G (p.Asp411Gly) n.1352A>G c.1934A>G (p.Asp645Gly) | |
X | g.53405303T>G | CA413252320 | SMC1A | c.2000A>C (p.Asp667Ala) c.1232A>C (p.Asp411Ala) n.1352A>C c.1934A>C (p.Asp645Ala) | |
X | g.53405304C>A | CA413252324 | SMC1A | c.1999G>T (p.Asp667Tyr) c.1231G>T (p.Asp411Tyr) n.1351G>T c.1933G>T (p.Asp645Tyr) | |
X | g.53405304C>G | CA413252326 | SMC1A | c.1999G>C (p.Asp667His) c.1231G>C (p.Asp411His) n.1351G>C c.1933G>C (p.Asp645His) | |
X | g.53405304C>T | CA413252322 | SMC1A | c.1999G>A (p.Asp667Asn) c.1231G>A (p.Asp411Asn) n.1351G>A c.1933G>A (p.Asp645Asn) | |
X | g.53405305C>A | CA413252327 | SMC1A | c.1998G>T (p.Trp666Cys) c.1230G>T (p.Trp410Cys) n.1350G>T c.1932G>T (p.Trp644Cys) | |
X | g.53405305C>G | CA413252329 | SMC1A | c.1998G>C (p.Trp666Cys) c.1230G>C (p.Trp410Cys) n.1350G>C c.1932G>C (p.Trp644Cys) | |
X | g.53405305C>T | CA413252330 | SMC1A | c.1998G>A (p.Trp666Ter) c.1230G>A (p.Trp410Ter) n.1350G>A c.1932G>A (p.Trp644Ter) | |
X | g.53405306C>A | CA413252332 | SMC1A | c.1997G>T (p.Trp666Leu) c.1229G>T (p.Trp410Leu) n.1349G>T c.1931G>T (p.Trp644Leu) | |
X | g.53405306C>G | CA413252334 | SMC1A | c.1997G>C (p.Trp666Ser) c.1229G>C (p.Trp410Ser) n.1349G>C c.1931G>C (p.Trp644Ser) | |
X | g.53405306C>T | CA413252335 | SMC1A | c.1997G>A (p.Trp666Ter) c.1229G>A (p.Trp410Ter) n.1349G>A c.1931G>A (p.Trp644Ter) | |
X | g.53405307A= | CA2429825251 | SMC1A | c.1996T= (p.Trp666=) c.1228T= (p.Trp410=) n.1348T= c.1930T= (p.Trp644=) | |
X | g.53405307A>C | CA413252340 | SMC1A | c.1996T>G (p.Trp666Gly) c.1228T>G (p.Trp410Gly) n.1348T>G c.1930T>G (p.Trp644Gly) | |
X | g.53405307A>G | CA16043595 | SMC1A | c.1996T>C (p.Trp666Arg) c.1228T>C (p.Trp410Arg) n.1348T>C c.1930T>C (p.Trp644Arg) | ClinVar dbSNP |
X | g.53405307A>T | CA413252337 | SMC1A | c.1996T>A (p.Trp666Arg) c.1228T>A (p.Trp410Arg) n.1348T>A c.1930T>A (p.Trp644Arg) | |
X | g.53405308G>A | CA516688158 | SMC1A | c.1995C>T (p.Arg665=) c.1227C>T (p.Arg409=) n.1347C>T c.1929C>T (p.Arg643=) | |
X | g.53405308G>C | CA516688156 | SMC1A | c.1995C>G (p.Arg665=) c.1227C>G (p.Arg409=) n.1347C>G c.1929C>G (p.Arg643=) | |
X | g.53405308G>T | CA516688157 | SMC1A | c.1995C>A (p.Arg665=) c.1227C>A (p.Arg409=) n.1347C>A c.1929C>A (p.Arg643=) | |
X | g.53405310_53405316del | CA2697553121 | SMC1A | c.1989_1995del (p.Arg664GlyfsTer6) c.1221_1227del (p.Arg408GlyfsTer6) n.1341_1347del c.1923_1929del (p.Arg642GlyfsTer6) | ClinVar |
X | g.53405309C>A | CA413252341 | SMC1A | c.1994G>T (p.Arg665Leu) c.1226G>T (p.Arg409Leu) n.1346G>T c.1928G>T (p.Arg643Leu) | |
X | g.53405309C>G | CA413252342 | SMC1A | c.1994G>C (p.Arg665Pro) c.1226G>C (p.Arg409Pro) n.1346G>C c.1928G>C (p.Arg643Pro) | |
X | g.53405309C>T | CA413252344 | SMC1A | c.1994G>A (p.Arg665His) c.1226G>A (p.Arg409His) n.1346G>A c.1928G>A (p.Arg643His) | ClinVar gnomAD v4 |
X | g.53405310G>A | CA413252346 | SMC1A | c.1993C>T (p.Arg665Cys) c.1225C>T (p.Arg409Cys) n.1345C>T c.1927C>T (p.Arg643Cys) | |
X | g.53405310G>C | CA329907257 | SMC1A | c.1993C>G (p.Arg665Gly) c.1225C>G (p.Arg409Gly) n.1345C>G c.1927C>G (p.Arg643Gly) | dbSNP |
X | g.53405310G= | CA2429825252 | SMC1A | c.1993C= (p.Arg665=) c.1225C= (p.Arg409=) n.1345C= c.1927C= (p.Arg643=) | |
X | g.53405310G>T | CA413252348 | SMC1A | c.1993C>A (p.Arg665Ser) c.1225C>A (p.Arg409Ser) n.1345C>A c.1927C>A (p.Arg643Ser) | |
X | g.53405311C>A | CA516688165 | SMC1A | c.1992G>T (p.Arg664=) c.1224G>T (p.Arg408=) n.1344G>T c.1926G>T (p.Arg642=) | |
X | g.53405311C>G | CA516688167 | SMC1A | c.1992G>C (p.Arg664=) c.1224G>C (p.Arg408=) n.1344G>C c.1926G>C (p.Arg642=) | |
X | g.53405311C>T | CA516688168 | SMC1A | c.1992G>A (p.Arg664=) c.1224G>A (p.Arg408=) n.1344G>A c.1926G>A (p.Arg642=) | |
X | g.53405312C>A | CA413252354 | SMC1A | c.1991G>T (p.Arg664Leu) c.1223G>T (p.Arg408Leu) n.1343G>T c.1925G>T (p.Arg642Leu) | |
X | g.53405312C>G | CA413252350 | SMC1A | c.1991G>C (p.Arg664Pro) c.1223G>C (p.Arg408Pro) n.1343G>C c.1925G>C (p.Arg642Pro) | |
X | g.53405312C>T | CA413252352 | SMC1A | c.1991G>A (p.Arg664Gln) c.1223G>A (p.Arg408Gln) n.1343G>A c.1925G>A (p.Arg642Gln) | |
X | g.53405312_53405313delinsCG | CA2429825253 | SMC1A | c.1990_1991delinsCG (p.Arg664=) c.1222_1223delinsCG (p.Arg408=) n.1342_1343delinsCG c.1924_1925delinsCG (p.Arg642=) | |
X | g.53405313del | CA516688172 | SMC1A | c.1990del (p.Arg664GlyfsTer8) c.1222del (p.Arg408GlyfsTer8) n.1342del c.1924del (p.Arg642GlyfsTer8) | ClinVar dbSNP COSMIC |
X | g.53405313G>A | CA413252355 | SMC1A | c.1990C>T (p.Arg664Trp) c.1222C>T (p.Arg408Trp) n.1342C>T c.1924C>T (p.Arg642Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.53405313G>C | CA413252356 | SMC1A | c.1990C>G (p.Arg664Gly) c.1222C>G (p.Arg408Gly) n.1342C>G c.1924C>G (p.Arg642Gly) | |
X | g.53405313G= | CA2429825254 | SMC1A | c.1990C= (p.Arg664=) c.1222C= (p.Arg408=) n.1342C= c.1924C= (p.Arg642=) | |
X | g.53405313G>T | CA516688174 | SMC1A | c.1990C>A (p.Arg664=) c.1222C>A (p.Arg408=) n.1342C>A c.1924C>A (p.Arg642=) | |
X | g.53405314T>A | CA516688176 | SMC1A | c.1989A>T (p.Ala663=) c.1221A>T (p.Ala407=) n.1341A>T c.1923A>T (p.Ala641=) | |
X | g.53405314T>C | CA516688175 | SMC1A | c.1989A>G (p.Ala663=) c.1221A>G (p.Ala407=) n.1341A>G c.1923A>G (p.Ala641=) | gnomAD v4 |
X | g.53405314T>G | CA516688177 | SMC1A | c.1989A>C (p.Ala663=) c.1221A>C (p.Ala407=) n.1341A>C c.1923A>C (p.Ala641=) | |
X | g.53405315G>A | CA413252359 | SMC1A | c.1988C>T (p.Ala663Val) c.1220C>T (p.Ala407Val) n.1340C>T c.1922C>T (p.Ala641Val) | |
X | g.53405315G>C | CA413252361 | SMC1A | c.1988C>G (p.Ala663Gly) c.1220C>G (p.Ala407Gly) n.1340C>G c.1922C>G (p.Ala641Gly) | |
X | g.53405315G>T | CA413252362 | SMC1A | c.1988C>A (p.Ala663Glu) c.1220C>A (p.Ala407Glu) n.1340C>A c.1922C>A (p.Ala641Glu) | |
X | g.53405316C>A | CA413252364 | SMC1A | c.1987G>T (p.Ala663Ser) c.1219G>T (p.Ala407Ser) n.1339G>T c.1921G>T (p.Ala641Ser) | |
X | g.53405316C>G | CA413252365 | SMC1A | c.1987G>C (p.Ala663Pro) c.1219G>C (p.Ala407Pro) n.1339G>C c.1921G>C (p.Ala641Pro) | |
X | g.53405316C>T | CA413252367 | SMC1A | c.1987G>A (p.Ala663Thr) c.1219G>A (p.Ala407Thr) n.1339G>A c.1921G>A (p.Ala641Thr) | |
X | g.53405317C>A | CA413252368 | SMC1A | c.1986G>T (p.Lys662Asn) c.1218G>T (p.Lys406Asn) n.1338G>T c.1920G>T (p.Lys640Asn) | |
X | g.53405317C= | CA2429825255 | SMC1A | c.1986G= (p.Lys662=) c.1218G= (p.Lys406=) n.1338G= c.1920G= (p.Lys640=) | |
X | g.53405317C>G | CA329907258 | SMC1A | c.1986G>C (p.Lys662Asn) c.1218G>C (p.Lys406Asn) n.1338G>C c.1920G>C (p.Lys640Asn) | dbSNP |
X | g.53405317C>T | CA516688180 | SMC1A | c.1986G>A (p.Lys662=) c.1218G>A (p.Lys406=) n.1338G>A c.1920G>A (p.Lys640=) | |
X | g.53405318T>A | CA413252370 | SMC1A | c.1985A>T (p.Lys662Met) c.1217A>T (p.Lys406Met) n.1337A>T c.1919A>T (p.Lys640Met) | |
X | g.53405318T>C | CA413252372 | SMC1A | c.1985A>G (p.Lys662Arg) c.1217A>G (p.Lys406Arg) n.1337A>G c.1919A>G (p.Lys640Arg) | gnomAD v4 |
X | g.53405318T>G | CA413252374 | SMC1A | c.1985A>C (p.Lys662Thr) c.1217A>C (p.Lys406Thr) n.1337A>C c.1919A>C (p.Lys640Thr) | |
X | g.53405319T>A | CA413252378 | SMC1A | c.1984A>T (p.Lys662Ter) c.1216A>T (p.Lys406Ter) n.1336A>T c.1918A>T (p.Lys640Ter) | |
X | g.53405319T>C | CA413252375 | SMC1A | c.1984A>G (p.Lys662Glu) c.1216A>G (p.Lys406Glu) n.1336A>G c.1918A>G (p.Lys640Glu) | |
X | g.53405319T>G | CA413252376 | SMC1A | c.1984A>C (p.Lys662Gln) c.1216A>C (p.Lys406Gln) n.1336A>C c.1918A>C (p.Lys640Gln) | |
X | g.53405320G>A | CA516688185 | SMC1A | c.1983C>T (p.Ala661=) c.1215C>T (p.Ala405=) n.1335C>T c.1917C>T (p.Ala639=) | |
X | g.53405320G>C | CA516688186 | SMC1A | c.1983C>G (p.Ala661=) c.1215C>G (p.Ala405=) n.1335C>G c.1917C>G (p.Ala639=) | |
X | g.53405320G>T | CA516688187 | SMC1A | c.1983C>A (p.Ala661=) c.1215C>A (p.Ala405=) n.1335C>A c.1917C>A (p.Ala639=) | |
X | g.53405321G>A | CA413252380 | SMC1A | c.1982C>T (p.Ala661Val) c.1214C>T (p.Ala405Val) n.1334C>T c.1916C>T (p.Ala639Val) | |
X | g.53405321G>C | CA413252382 | SMC1A | c.1982C>G (p.Ala661Gly) c.1214C>G (p.Ala405Gly) n.1334C>G c.1916C>G (p.Ala639Gly) | |
X | g.53405321G>T | CA413252383 | SMC1A | c.1982C>A (p.Ala661Asp) c.1214C>A (p.Ala405Asp) n.1334C>A c.1916C>A (p.Ala639Asp) | |
X | g.53405322C>A | CA413252385 | SMC1A | c.1981G>T (p.Ala661Ser) c.1213G>T (p.Ala405Ser) n.1333G>T c.1915G>T (p.Ala639Ser) | |
X | g.53405322C>G | CA413252387 | SMC1A | c.1981G>C (p.Ala661Pro) c.1213G>C (p.Ala405Pro) n.1333G>C c.1915G>C (p.Ala639Pro) | |
X | g.53405322C>T | CA413252388 | SMC1A | c.1981G>A (p.Ala661Thr) c.1213G>A (p.Ala405Thr) n.1333G>A c.1915G>A (p.Ala639Thr) | |
X | g.53405323C>A | CA413252391 | SMC1A | c.1980G>T (p.Lys660Asn) c.1212G>T (p.Lys404Asn) n.1332G>T c.1914G>T (p.Lys638Asn) | |
X | g.53405323C>G | CA413252390 | SMC1A | c.1980G>C (p.Lys660Asn) c.1212G>C (p.Lys404Asn) n.1332G>C c.1914G>C (p.Lys638Asn) | |
X | g.53405323C>T | CA516688197 | SMC1A | c.1980G>A (p.Lys660=) c.1212G>A (p.Lys404=) n.1332G>A c.1914G>A (p.Lys638=) | |
X | g.53405324T>A | CA413252393 | SMC1A | c.1979A>T (p.Lys660Met) c.1211A>T (p.Lys404Met) n.1331A>T c.1913A>T (p.Lys638Met) | |
X | g.53405324T>C | CA413252395 | SMC1A | c.1979A>G (p.Lys660Arg) c.1211A>G (p.Lys404Arg) n.1331A>G c.1913A>G (p.Lys638Arg) | |
X | g.53405324T>G | CA413252397 | SMC1A | c.1979A>C (p.Lys660Thr) c.1211A>C (p.Lys404Thr) n.1331A>C c.1913A>C (p.Lys638Thr) | |
X | g.53405325T>A | CA413252398 | SMC1A | c.1978A>T (p.Lys660Ter) c.1210A>T (p.Lys404Ter) n.1330A>T c.1912A>T (p.Lys638Ter) | |
X | g.53405325T>C | CA413252400 | SMC1A | c.1978A>G (p.Lys660Glu) c.1210A>G (p.Lys404Glu) n.1330A>G c.1912A>G (p.Lys638Glu) | |
X | g.53405325T>G | CA413252402 | SMC1A | c.1978A>C (p.Lys660Gln) c.1210A>C (p.Lys404Gln) n.1330A>C c.1912A>C (p.Lys638Gln) | |
X | g.53405326del | CA2573055364 | SMC1A | c.1977del (p.Lys660ArgfsTer12) c.1209del (p.Lys404ArgfsTer12) n.1329del c.1911del (p.Lys638ArgfsTer12) | ClinVar dbSNP |
X | g.53405326C>A | CA516688200 | SMC1A | c.1977G>T (p.Leu659=) c.1209G>T (p.Leu403=) n.1329G>T c.1911G>T (p.Leu637=) | |
X | g.53405326C>G | CA516688202 | SMC1A | c.1977G>C (p.Leu659=) c.1209G>C (p.Leu403=) n.1329G>C c.1911G>C (p.Leu637=) | |
X | g.53405326C>T | CA516688204 | SMC1A | c.1977G>A (p.Leu659=) c.1209G>A (p.Leu403=) n.1329G>A c.1911G>A (p.Leu637=) | ClinVar dbSNP |
X | g.53405327A>C | CA413252407 | SMC1A | c.1976T>G (p.Leu659Arg) c.1208T>G (p.Leu403Arg) n.1328T>G c.1910T>G (p.Leu637Arg) | |
X | g.53405327A>G | CA413252404 | SMC1A | c.1976T>C (p.Leu659Pro) c.1208T>C (p.Leu403Pro) n.1328T>C c.1910T>C (p.Leu637Pro) | |
X | g.53405327A>T | CA413252405 | SMC1A | c.1976T>A (p.Leu659Gln) c.1208T>A (p.Leu403Gln) n.1328T>A c.1910T>A (p.Leu637Gln) | |
X | g.53405328G>A | CA516688206 | SMC1A | c.1975C>T (p.Leu659=) c.1207C>T (p.Leu403=) n.1327C>T c.1909C>T (p.Leu637=) | |
X | g.53405328G>C | CA413252409 | SMC1A | c.1975C>G (p.Leu659Val) c.1207C>G (p.Leu403Val) n.1327C>G c.1909C>G (p.Leu637Val) | |
X | g.53405328G>T | CA413252411 | SMC1A | c.1975C>A (p.Leu659Met) c.1207C>A (p.Leu403Met) n.1327C>A c.1909C>A (p.Leu637Met) | |
X | g.53405329G>A | CA516688208 | SMC1A | c.1974C>T (p.Asp658=) c.1206C>T (p.Asp402=) n.1326C>T c.1908C>T (p.Asp636=) | |
X | g.53405329G>C | CA413252412 | SMC1A | c.1974C>G (p.Asp658Glu) c.1206C>G (p.Asp402Glu) n.1326C>G c.1908C>G (p.Asp636Glu) | |
X | g.53405329G>T | CA413252413 | SMC1A | c.1974C>A (p.Asp658Glu) c.1206C>A (p.Asp402Glu) n.1326C>A c.1908C>A (p.Asp636Glu) | |
X | g.53405330T>A | CA413252414 | SMC1A | c.1973A>T (p.Asp658Val) c.1205A>T (p.Asp402Val) n.1325A>T c.1907A>T (p.Asp636Val) | |
X | g.53405330T>C | CA413252416 | SMC1A | c.1973A>G (p.Asp658Gly) c.1205A>G (p.Asp402Gly) n.1325A>G c.1907A>G (p.Asp636Gly) | |
X | g.53405330T>G | CA413252418 | SMC1A | c.1973A>C (p.Asp658Ala) c.1205A>C (p.Asp402Ala) n.1325A>C c.1907A>C (p.Asp636Ala) | |
X | g.53405331C>A | CA413252419 | SMC1A | c.1972G>T (p.Asp658Tyr) c.1204G>T (p.Asp402Tyr) n.1324G>T c.1906G>T (p.Asp636Tyr) | |
X | g.53405331C>G | CA413252421 | SMC1A | c.1972G>C (p.Asp658His) c.1204G>C (p.Asp402His) n.1324G>C c.1906G>C (p.Asp636His) | |
X | g.53405331C>T | CA413252422 | SMC1A | c.1972G>A (p.Asp658Asn) c.1204G>A (p.Asp402Asn) n.1324G>A c.1906G>A (p.Asp636Asn) | |
X | g.53405332A>C | CA413252423 | SMC1A | c.1971T>G (p.Ser657Arg) c.1203T>G (p.Ser401Arg) n.1323T>G c.1905T>G (p.Ser635Arg) | |
X | g.53405332A>G | CA516688214 | SMC1A | c.1971T>C (p.Ser657=) c.1203T>C (p.Ser401=) n.1323T>C c.1905T>C (p.Ser635=) | |
X | g.53405332A>T | CA413252424 | SMC1A | c.1971T>A (p.Ser657Arg) c.1203T>A (p.Ser401Arg) n.1323T>A c.1905T>A (p.Ser635Arg) | ClinVar dbSNP |
X | g.53405333C>A | CA413252426 | SMC1A | c.1970G>T (p.Ser657Ile) c.1202G>T (p.Ser401Ile) n.1322G>T c.1904G>T (p.Ser635Ile) | |
X | g.53405333C>G | CA413252429 | SMC1A | c.1970G>C (p.Ser657Thr) c.1202G>C (p.Ser401Thr) n.1322G>C c.1904G>C (p.Ser635Thr) | |
X | g.53405333C>T | CA413252427 | SMC1A | c.1970G>A (p.Ser657Asn) c.1202G>A (p.Ser401Asn) n.1322G>A c.1904G>A (p.Ser635Asn) | |
X | g.53405334T>A | CA413252430 | SMC1A | c.1969A>T (p.Ser657Cys) c.1201A>T (p.Ser401Cys) n.1321A>T c.1903A>T (p.Ser635Cys) | |
X | g.53405334T>C | CA413252433 | SMC1A | c.1969A>G (p.Ser657Gly) c.1201A>G (p.Ser401Gly) n.1321A>G c.1903A>G (p.Ser635Gly) | |
X | g.53405334T>G | CA413252431 | SMC1A | c.1969A>C (p.Ser657Arg) c.1201A>C (p.Ser401Arg) n.1321A>C c.1903A>C (p.Ser635Arg) | |
X | g.53405335G>A | CA516688218 | SMC1A | c.1968C>T (p.Ala656=) c.1200C>T (p.Ala400=) n.1320C>T c.1902C>T (p.Ala634=) | |
X | g.53405335G>C | CA516688219 | SMC1A | c.1968C>G (p.Ala656=) c.1200C>G (p.Ala400=) n.1320C>G c.1902C>G (p.Ala634=) | |
X | g.53405335G>T | CA516688220 | SMC1A | c.1968C>A (p.Ala656=) c.1200C>A (p.Ala400=) n.1320C>A c.1902C>A (p.Ala634=) | |
X | g.53405336G>A | CA413252434 | SMC1A | c.1967C>T (p.Ala656Val) c.1199C>T (p.Ala400Val) n.1319C>T c.1901C>T (p.Ala634Val) | |
X | g.53405336G>C | CA413252436 | SMC1A | c.1967C>G (p.Ala656Gly) c.1199C>G (p.Ala400Gly) n.1319C>G c.1901C>G (p.Ala634Gly) | |
X | g.53405336G>T | CA413252437 | SMC1A | c.1967C>A (p.Ala656Asp) c.1199C>A (p.Ala400Asp) n.1319C>A c.1901C>A (p.Ala634Asp) | |
X | g.53405337C>A | CA413252439 | SMC1A | c.1966G>T (p.Ala656Ser) c.1198G>T (p.Ala400Ser) n.1318G>T c.1900G>T (p.Ala634Ser) | |
X | g.53405337C>G | CA413252441 | SMC1A | c.1966G>C (p.Ala656Pro) c.1198G>C (p.Ala400Pro) n.1318G>C c.1900G>C (p.Ala634Pro) | |
X | g.53405337C>T | CA413252442 | SMC1A | c.1966G>A (p.Ala656Thr) c.1198G>A (p.Ala400Thr) n.1318G>A c.1900G>A (p.Ala634Thr) | |
X | g.53405338_53405340dup | CA2820946814 | SMC1A | c.1964_1966dup (p.Gly655_Ala656insGly) c.1196_1198dup (p.Gly399_Ala400insGly) n.1316_1318dup c.1898_1900dup (p.Gly633_Ala634insGly) | |
X | g.53405338C>A | CA516688224 | SMC1A | c.1965G>T (p.Gly655=) c.1197G>T (p.Gly399=) n.1317G>T c.1899G>T (p.Gly633=) | |
X | g.53405338C>G | CA516688225 | SMC1A | c.1965G>C (p.Gly655=) c.1197G>C (p.Gly399=) n.1317G>C c.1899G>C (p.Gly633=) | |
X | g.53405338C>T | CA516688226 | SMC1A | c.1965G>A (p.Gly655=) c.1197G>A (p.Gly399=) n.1317G>A c.1899G>A (p.Gly633=) | |
X | g.53405339C>A | CA413252444 | SMC1A | c.1964G>T (p.Gly655Val) c.1196G>T (p.Gly399Val) n.1316G>T c.1898G>T (p.Gly633Val) | |
X | g.53405339C= | CA2429825256 | SMC1A | c.1964G= (p.Gly655=) c.1196G= (p.Gly399=) n.1316G= c.1898G= (p.Gly633=) | |
X | g.53405339C>G | CA413252446 | SMC1A | c.1964G>C (p.Gly655Ala) c.1196G>C (p.Gly399Ala) n.1316G>C c.1898G>C (p.Gly633Ala) | |
X | g.53405339C>T | CA413252447 | SMC1A | c.1964G>A (p.Gly655Glu) c.1196G>A (p.Gly399Glu) n.1316G>A c.1898G>A (p.Gly633Glu) | ClinVar dbSNP |
X | g.53405340C>A | CA413252449 | SMC1A | c.1963G>T (p.Gly655Trp) c.1195G>T (p.Gly399Trp) n.1315G>T c.1897G>T (p.Gly633Trp) | |
X | g.53405340C>G | CA413252451 | SMC1A | c.1963G>C (p.Gly655Arg) c.1195G>C (p.Gly399Arg) n.1315G>C c.1897G>C (p.Gly633Arg) | |
X | g.53405340C>T | CA413252452 | SMC1A | c.1963G>A (p.Gly655Arg) c.1195G>A (p.Gly399Arg) n.1315G>A c.1897G>A (p.Gly633Arg) | |
X | g.53405341A>C | CA516688232 | SMC1A | c.1962T>G (p.Gly654=) c.1194T>G (p.Gly398=) n.1314T>G c.1896T>G (p.Gly632=) | ClinVar |
X | g.53405341A>G | CA516688233 | SMC1A | c.1962T>C (p.Gly654=) c.1194T>C (p.Gly398=) n.1314T>C c.1896T>C (p.Gly632=) | |
X | g.53405341A>T | CA516688234 | SMC1A | c.1962T>A (p.Gly654=) c.1194T>A (p.Gly398=) n.1314T>A c.1896T>A (p.Gly632=) | |
X | g.53405342C>A | CA413252454 | SMC1A | c.1961G>T (p.Gly654Val) c.1193G>T (p.Gly398Val) n.1313G>T c.1895G>T (p.Gly632Val) | ClinVar |
X | g.53405342C>G | CA413252457 | SMC1A | c.1961G>C (p.Gly654Ala) c.1193G>C (p.Gly398Ala) n.1313G>C c.1895G>C (p.Gly632Ala) | |
X | g.53405342C>T | CA413252456 | SMC1A | c.1961G>A (p.Gly654Asp) c.1193G>A (p.Gly398Asp) n.1313G>A c.1895G>A (p.Gly632Asp) | |
X | g.53405342_53405343insACCAAACACACCCAACA | CA2820946821 | SMC1A | c.1960_1961insTGTTGGGTGTGTTTGGT (p.Gly654ValfsTer12) c.1192_1193insTGTTGGGTGTGTTTGGT (p.Gly398ValfsTer12) n.1312_1313insTGTTGGGTGTGTTTGGT c.1894_1895insTGTTGGGTGTGTTTGGT (p.Gly632ValfsTer12) | |
X | g.53405343C>A | CA413252459 | SMC1A | c.1960G>T (p.Gly654Cys) c.1192G>T (p.Gly398Cys) n.1312G>T c.1894G>T (p.Gly632Cys) | |
X | g.53405343C>G | CA413252461 | SMC1A | c.1960G>C (p.Gly654Arg) c.1192G>C (p.Gly398Arg) n.1312G>C c.1894G>C (p.Gly632Arg) | |
X | g.53405343C>T | CA413252462 | SMC1A | c.1960G>A (p.Gly654Ser) c.1192G>A (p.Gly398Ser) n.1312G>A c.1894G>A (p.Gly632Ser) | |
X | g.53405344A>C | CA516688239 | SMC1A | c.1959T>G (p.Ser653=) c.1191T>G (p.Ser397=) n.1311T>G c.1893T>G (p.Ser631=) | |
X | g.53405344A>G | CA516688240 | SMC1A | c.1959T>C (p.Ser653=) c.1191T>C (p.Ser397=) n.1311T>C c.1893T>C (p.Ser631=) | |
X | g.53405344A>T | CA516688241 | SMC1A | c.1959T>A (p.Ser653=) c.1191T>A (p.Ser397=) n.1311T>A c.1893T>A (p.Ser631=) | |
X | g.53405345G>A | CA413252464 | SMC1A | c.1958C>T (p.Ser653Phe) c.1190C>T (p.Ser397Phe) n.1310C>T c.1892C>T (p.Ser631Phe) | ClinVar dbSNP |
X | g.53405345G>C | CA413252465 | SMC1A | c.1958C>G (p.Ser653Cys) c.1190C>G (p.Ser397Cys) n.1310C>G c.1892C>G (p.Ser631Cys) | |
X | g.53405345G= | CA2429825257 | SMC1A | c.1958C= (p.Ser653=) c.1190C= (p.Ser397=) n.1310C= c.1892C= (p.Ser631=) | |
X | g.53405345G>T | CA413252467 | SMC1A | c.1958C>A (p.Ser653Tyr) c.1190C>A (p.Ser397Tyr) n.1310C>A c.1892C>A (p.Ser631Tyr) | |
X | g.53405346A>C | CA413252469 | SMC1A | c.1957T>G (p.Ser653Ala) c.1189T>G (p.Ser397Ala) n.1309T>G c.1891T>G (p.Ser631Ala) | |
X | g.53405346A>G | CA413252471 | SMC1A | c.1957T>C (p.Ser653Pro) c.1189T>C (p.Ser397Pro) n.1309T>C c.1891T>C (p.Ser631Pro) | |
X | g.53405346A>T | CA413252472 | SMC1A | c.1957T>A (p.Ser653Thr) c.1189T>A (p.Ser397Thr) n.1309T>A c.1891T>A (p.Ser631Thr) | |
X | g.53405347G>A | CA516688246 | SMC1A | c.1956C>T (p.Ile652=) c.1188C>T (p.Ile396=) n.1308C>T c.1890C>T (p.Ile630=) | |
X | g.53405347G>C | CA413252474 | SMC1A | c.1956C>G (p.Ile652Met) c.1188C>G (p.Ile396Met) n.1308C>G c.1890C>G (p.Ile630Met) | |
X | g.53405347G>T | CA516688247 | SMC1A | c.1956C>A (p.Ile652=) c.1188C>A (p.Ile396=) n.1308C>A c.1890C>A (p.Ile630=) | |
X | g.53405348A>C | CA413252476 | SMC1A | c.1955T>G (p.Ile652Ser) c.1187T>G (p.Ile396Ser) n.1307T>G c.1889T>G (p.Ile630Ser) | |
X | g.53405348A>G | CA413252478 | SMC1A | c.1955T>C (p.Ile652Thr) c.1187T>C (p.Ile396Thr) n.1307T>C c.1889T>C (p.Ile630Thr) | |
X | g.53405348A>T | CA413252475 | SMC1A | c.1955T>A (p.Ile652Asn) c.1187T>A (p.Ile396Asn) n.1307T>A c.1889T>A (p.Ile630Asn) | |
X | g.53405349T>A | CA413252480 | SMC1A | c.1954A>T (p.Ile652Phe) c.1186A>T (p.Ile396Phe) n.1306A>T c.1888A>T (p.Ile630Phe) | |
X | g.53405349T>C | CA413252481 | SMC1A | c.1954A>G (p.Ile652Val) c.1186A>G (p.Ile396Val) n.1306A>G c.1888A>G (p.Ile630Val) | |
X | g.53405349T>G | CA413252482 | SMC1A | c.1954A>C (p.Ile652Leu) c.1186A>C (p.Ile396Leu) n.1306A>C c.1888A>C (p.Ile630Leu) | |
X | g.53405350C>A | CA516688257 | SMC1A | c.1953G>T (p.Val651=) c.1185G>T (p.Val395=) n.1305G>T c.1887G>T (p.Val629=) | |
X | g.53405350C>G | CA516688256 | SMC1A | c.1953G>C (p.Val651=) c.1185G>C (p.Val395=) n.1305G>C c.1887G>C (p.Val629=) | |
X | g.53405350C>T | CA516688255 | SMC1A | c.1953G>A (p.Val651=) c.1185G>A (p.Val395=) n.1305G>A c.1887G>A (p.Val629=) | |
X | g.53405351A>C | CA413252484 | SMC1A | c.1952T>G (p.Val651Gly) c.1184T>G (p.Val395Gly) n.1304T>G c.1886T>G (p.Val629Gly) | |
X | g.53405351A>G | CA413252485 | SMC1A | c.1952T>C (p.Val651Ala) c.1184T>C (p.Val395Ala) n.1304T>C c.1886T>C (p.Val629Ala) | |
X | g.53405351A>T | CA413252487 | SMC1A | c.1952T>A (p.Val651Glu) c.1184T>A (p.Val395Glu) n.1304T>A c.1886T>A (p.Val629Glu) | |
X | g.53405352C>A | CA413252489 | SMC1A | c.1951G>T (p.Val651Leu) c.1183G>T (p.Val395Leu) n.1303G>T c.1885G>T (p.Val629Leu) | |
X | g.53405352C>G | CA413252491 | SMC1A | c.1951G>C (p.Val651Leu) c.1183G>C (p.Val395Leu) n.1303G>C c.1885G>C (p.Val629Leu) | |
X | g.53405352C>T | CA413252492 | SMC1A | c.1951G>A (p.Val651Met) c.1183G>A (p.Val395Met) n.1303G>A c.1885G>A (p.Val629Met) | |
X | g.53405353T>A | CA516688261 | SMC1A | c.1950A>T (p.Gly650=) c.1182A>T (p.Gly394=) n.1302A>T c.1884A>T (p.Gly628=) | |
X | g.53405353T>C | CA516688262 | SMC1A | c.1950A>G (p.Gly650=) c.1182A>G (p.Gly394=) n.1302A>G c.1884A>G (p.Gly628=) | |
X | g.53405353T>G | CA516688263 | SMC1A | c.1950A>C (p.Gly650=) c.1182A>C (p.Gly394=) n.1302A>C c.1884A>C (p.Gly628=) | dbSNP gnomAD v4 |
X | g.53405353T= | CA2429825258 | SMC1A | c.1950A= (p.Gly650=) c.1182A= (p.Gly394=) n.1302A= c.1884A= (p.Gly628=) | |
X | g.53405354C>A | CA413252493 | SMC1A | c.1949G>T (p.Gly650Val) c.1181G>T (p.Gly394Val) n.1301G>T c.1883G>T (p.Gly628Val) | |
X | g.53405354C>G | CA413252495 | SMC1A | c.1949G>C (p.Gly650Ala) c.1181G>C (p.Gly394Ala) n.1301G>C c.1883G>C (p.Gly628Ala) | |
X | g.53405354C>T | CA413252497 | SMC1A | c.1949G>A (p.Gly650Glu) c.1181G>A (p.Gly394Glu) n.1301G>A c.1883G>A (p.Gly628Glu) | |
X | g.53405355C>A | CA413252500 | SMC1A | c.1948G>T (p.Gly650Ter) c.1180G>T (p.Gly394Ter) n.1300G>T c.1882G>T (p.Gly628Ter) | |
X | g.53405355C>G | CA413252502 | SMC1A | c.1948G>C (p.Gly650Arg) c.1180G>C (p.Gly394Arg) n.1300G>C c.1882G>C (p.Gly628Arg) | |
X | g.53405355C>T | CA413252499 | SMC1A | c.1948G>A (p.Gly650Arg) c.1180G>A (p.Gly394Arg) n.1300G>A c.1882G>A (p.Gly628Arg) | |
X | g.53405356T>A | CA516688269 | SMC1A | c.1947A>T (p.Ser649=) c.1179A>T (p.Ser393=) n.1299A>T c.1881A>T (p.Ser627=) | |
X | g.53405356T>C | CA329907259 | SMC1A | c.1947A>G (p.Ser649=) c.1179A>G (p.Ser393=) n.1299A>G c.1881A>G (p.Ser627=) | dbSNP |
X | g.53405356T>G | CA10420495 | SMC1A | c.1947A>C (p.Ser649=) c.1179A>C (p.Ser393=) n.1299A>C c.1881A>C (p.Ser627=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405356T= | CA2429825259 | SMC1A | c.1947A= (p.Ser649=) c.1179A= (p.Ser393=) n.1299A= c.1881A= (p.Ser627=) | |
X | g.53405357G>A | CA413252505 | SMC1A | c.1946C>T (p.Ser649Leu) c.1178C>T (p.Ser393Leu) n.1298C>T c.1880C>T (p.Ser627Leu) | |
X | g.53405357G>C | CA413252506 | SMC1A | c.1946C>G (p.Ser649Ter) c.1178C>G (p.Ser393Ter) n.1298C>G c.1880C>G (p.Ser627Ter) | |
X | g.53405357G>T | CA413252508 | SMC1A | c.1946C>A (p.Ser649Ter) c.1178C>A (p.Ser393Ter) n.1298C>A c.1880C>A (p.Ser627Ter) | |
X | g.53405358A>C | CA413252513 | SMC1A | c.1945T>G (p.Ser649Ala) c.1177T>G (p.Ser393Ala) n.1297T>G c.1879T>G (p.Ser627Ala) | |
X | g.53405358A>G | CA413252510 | SMC1A | c.1945T>C (p.Ser649Pro) c.1177T>C (p.Ser393Pro) n.1297T>C c.1879T>C (p.Ser627Pro) | |
X | g.53405358A>T | CA413252512 | SMC1A | c.1945T>A (p.Ser649Thr) c.1177T>A (p.Ser393Thr) n.1297T>A c.1879T>A (p.Ser627Thr) | |
X | g.53405359C>A | CA413252515 | SMC1A | c.1944G>T (p.Lys648Asn) c.1176G>T (p.Lys392Asn) n.1296G>T c.1878G>T (p.Lys626Asn) | |
X | g.53405359C>G | CA413252516 | SMC1A | c.1944G>C (p.Lys648Asn) c.1176G>C (p.Lys392Asn) n.1296G>C c.1878G>C (p.Lys626Asn) | |
X | g.53405359C>T | CA516688272 | SMC1A | c.1944G>A (p.Lys648=) c.1176G>A (p.Lys392=) n.1296G>A c.1878G>A (p.Lys626=) | |
X | g.53405360T>A | CA413252518 | SMC1A | c.1943A>T (p.Lys648Met) c.1175A>T (p.Lys392Met) n.1295A>T c.1877A>T (p.Lys626Met) | |
X | g.53405360T>C | CA413252520 | SMC1A | c.1943A>G (p.Lys648Arg) c.1175A>G (p.Lys392Arg) n.1295A>G c.1877A>G (p.Lys626Arg) | |
X | g.53405360T>G | CA413252521 | SMC1A | c.1943A>C (p.Lys648Thr) c.1175A>C (p.Lys392Thr) n.1295A>C c.1877A>C (p.Lys626Thr) | |
X | g.53405361T>A | CA413252524 | SMC1A | c.1942A>T (p.Lys648Ter) c.1174A>T (p.Lys392Ter) n.1294A>T c.1876A>T (p.Lys626Ter) | |
X | g.53405361T>C | CA413252527 | SMC1A | c.1942A>G (p.Lys648Glu) c.1174A>G (p.Lys392Glu) n.1294A>G c.1876A>G (p.Lys626Glu) | |
X | g.53405361T>G | CA413252525 | SMC1A | c.1942A>C (p.Lys648Gln) c.1174A>C (p.Lys392Gln) n.1294A>C c.1876A>C (p.Lys626Gln) | |
X | g.53405362C>A | CA413252528 | SMC1A | c.1941G>T (p.Gln647His) c.1173G>T (p.Gln391His) n.1293G>T c.1875G>T (p.Gln625His) | COSMIC |
X | g.53405362C= | CA2429825260 | SMC1A | c.1941G= (p.Gln647=) c.1173G= (p.Gln391=) n.1293G= c.1875G= (p.Gln625=) | |
X | g.53405362C>G | CA413252530 | SMC1A | c.1941G>C (p.Gln647His) c.1173G>C (p.Gln391His) n.1293G>C c.1875G>C (p.Gln625His) | |
X | g.53405362C>T | CA516688276 | SMC1A | c.1941G>A (p.Gln647=) c.1173G>A (p.Gln391=) n.1293G>A c.1875G>A (p.Gln625=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53405363T>A | CA413252531 | SMC1A | c.1940A>T (p.Gln647Leu) c.1172A>T (p.Gln391Leu) n.1292A>T c.1874A>T (p.Gln625Leu) | |
X | g.53405363T>C | CA413252532 | SMC1A | c.1940A>G (p.Gln647Arg) c.1172A>G (p.Gln391Arg) n.1292A>G c.1874A>G (p.Gln625Arg) | |
X | g.53405363T>G | CA413252534 | SMC1A | c.1940A>C (p.Gln647Pro) c.1172A>C (p.Gln391Pro) n.1292A>C c.1874A>C (p.Gln625Pro) | |
X | g.53405364G>A | CA413252535 | SMC1A | c.1939C>T (p.Gln647Ter) c.1171C>T (p.Gln391Ter) n.1291C>T c.1873C>T (p.Gln625Ter) | |
X | g.53405364G>C | CA413252537 | SMC1A | c.1939C>G (p.Gln647Glu) c.1171C>G (p.Gln391Glu) n.1291C>G c.1873C>G (p.Gln625Glu) | COSMIC |
X | g.53405364G>T | CA413252539 | SMC1A | c.1939C>A (p.Gln647Lys) c.1171C>A (p.Gln391Lys) n.1291C>A c.1873C>A (p.Gln625Lys) | |
X | g.53405365G>A | CA10420496 | SMC1A | c.1938C>T (p.Phe646=) c.1170C>T (p.Phe390=) n.1290C>T c.1872C>T (p.Phe624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53405365G>C | CA413252541 | SMC1A | c.1938C>G (p.Phe646Leu) c.1170C>G (p.Phe390Leu) n.1290C>G c.1872C>G (p.Phe624Leu) | |
X | g.53405365G= | CA2429825261 | SMC1A | c.1938C= (p.Phe646=) c.1170C= (p.Phe390=) n.1290C= c.1872C= (p.Phe624=) | |
X | g.53405365G>T | CA413252543 | SMC1A | c.1938C>A (p.Phe646Leu) c.1170C>A (p.Phe390Leu) n.1290C>A c.1872C>A (p.Phe624Leu) | |
X | g.53405366A>C | CA413252545 | SMC1A | c.1937T>G (p.Phe646Cys) c.1169T>G (p.Phe390Cys) n.1289T>G c.1871T>G (p.Phe624Cys) | |
X | g.53405366A>G | CA413252547 | SMC1A | c.1937T>C (p.Phe646Ser) c.1169T>C (p.Phe390Ser) n.1289T>C c.1871T>C (p.Phe624Ser) | |
X | g.53405366A>T | CA413252548 | SMC1A | c.1937T>A (p.Phe646Tyr) c.1169T>A (p.Phe390Tyr) n.1289T>A c.1871T>A (p.Phe624Tyr) | |
X | g.53405367A>C | CA413252552 | SMC1A | c.1936T>G (p.Phe646Val) c.1168T>G (p.Phe390Val) n.1288T>G c.1870T>G (p.Phe624Val) | |
X | g.53405367A>G | CA413252551 | SMC1A | c.1936T>C (p.Phe646Leu) c.1168T>C (p.Phe390Leu) n.1288T>C c.1870T>C (p.Phe624Leu) | |
X | g.53405367A>T | CA413252550 | SMC1A | c.1936T>A (p.Phe646Ile) c.1168T>A (p.Phe390Ile) n.1288T>A c.1870T>A (p.Phe624Ile) | |
X | g.53405368T>A | CA516688288 | SMC1A | c.1935A>T (p.Leu645=) c.1167A>T (p.Leu389=) n.1287A>T c.1869A>T (p.Leu623=) | COSMIC |
X | g.53405368T>C | CA516688289 | SMC1A | c.1935A>G (p.Leu645=) c.1167A>G (p.Leu389=) n.1287A>G c.1869A>G (p.Leu623=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53405368T>G | CA516688291 | SMC1A | c.1935A>C (p.Leu645=) c.1167A>C (p.Leu389=) n.1287A>C c.1869A>C (p.Leu623=) | ClinVar |
X | g.53405368T= | CA2429825262 | SMC1A | c.1935A= (p.Leu645=) c.1167A= (p.Leu389=) n.1287A= c.1869A= (p.Leu623=) | |
X | g.53405369del | CA2695234314 | SMC1A | c.1934del (p.Leu645HisfsTer7) c.1166del (p.Leu389HisfsTer7) n.1286del c.1868del (p.Leu623HisfsTer7) | |
X | g.53405369A>C | CA413252554 | SMC1A | c.1934T>G (p.Leu645Arg) c.1166T>G (p.Leu389Arg) n.1286T>G c.1868T>G (p.Leu623Arg) | |
X | g.53405369A>G | CA413252555 | SMC1A | c.1934T>C (p.Leu645Pro) c.1166T>C (p.Leu389Pro) n.1286T>C c.1868T>C (p.Leu623Pro) | |
X | g.53405369A>T | CA413252556 | SMC1A | c.1934T>A (p.Leu645Gln) c.1166T>A (p.Leu389Gln) n.1286T>A c.1868T>A (p.Leu623Gln) | |
X | g.53405370G>A | CA329907260 | SMC1A | c.1933C>T (p.Leu645=) c.1165C>T (p.Leu389=) n.1285C>T c.1867C>T (p.Leu623=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53405370G>C | CA413252558 | SMC1A | c.1933C>G (p.Leu645Val) c.1165C>G (p.Leu389Val) n.1285C>G c.1867C>G (p.Leu623Val) | |
X | g.53405370G= | CA2429825263 | SMC1A | c.1933C= (p.Leu645=) c.1165C= (p.Leu389=) n.1285C= c.1867C= (p.Leu623=) | |
X | g.53405370G>T | CA413252560 | SMC1A | c.1933C>A (p.Leu645Ile) c.1165C>A (p.Leu389Ile) n.1285C>A c.1867C>A (p.Leu623Ile) | |
X | g.53405371G>A | CA516688296 | SMC1A | c.1932C>T (p.Thr644=) c.1164C>T (p.Thr388=) n.1284C>T c.1866C>T (p.Thr622=) | |
X | g.53405371G>C | CA516688297 | SMC1A | c.1932C>G (p.Thr644=) c.1164C>G (p.Thr388=) n.1284C>G c.1866C>G (p.Thr622=) | |
X | g.53405371G>T | CA516688298 | SMC1A | c.1932C>A (p.Thr644=) c.1164C>A (p.Thr388=) n.1284C>A c.1866C>A (p.Thr622=) | |
X | g.53405372G>A | CA413252562 | SMC1A | c.1931C>T (p.Thr644Ile) c.1163C>T (p.Thr388Ile) n.1283C>T c.1865C>T (p.Thr622Ile) | |
X | g.53405372G>C | CA413252563 | SMC1A | c.1931C>G (p.Thr644Ser) c.1163C>G (p.Thr388Ser) n.1283C>G c.1865C>G (p.Thr622Ser) | |
X | g.53405372G>T | CA413252565 | SMC1A | c.1931C>A (p.Thr644Asn) c.1163C>A (p.Thr388Asn) n.1283C>A c.1865C>A (p.Thr622Asn) | |
X | g.53405373T>A | CA413252567 | SMC1A | c.1930A>T (p.Thr644Ser) c.1162A>T (p.Thr388Ser) n.1282A>T c.1864A>T (p.Thr622Ser) | |
X | g.53405373T>C | CA413252569 | SMC1A | c.1930A>G (p.Thr644Ala) c.1162A>G (p.Thr388Ala) n.1282A>G c.1864A>G (p.Thr622Ala) | |
X | g.53405373T>G | CA413252570 | SMC1A | c.1930A>C (p.Thr644Pro) c.1162A>C (p.Thr388Pro) n.1282A>C c.1864A>C (p.Thr622Pro) | |
X | g.53405374T>A | CA516688301 | SMC1A | c.1929A>T (p.Gly643=) c.1161A>T (p.Gly387=) n.1281A>T c.1863A>T (p.Gly621=) | |
X | g.53405374T>C | CA516688302 | SMC1A | c.1929A>G (p.Gly643=) c.1161A>G (p.Gly387=) n.1281A>G c.1863A>G (p.Gly621=) | |
X | g.53405374T>G | CA516688303 | SMC1A | c.1929A>C (p.Gly643=) c.1161A>C (p.Gly387=) n.1281A>C c.1863A>C (p.Gly621=) | |
X | g.53405375C>A | CA413252572 | SMC1A | c.1928G>T (p.Gly643Val) c.1160G>T (p.Gly387Val) n.1280G>T c.1862G>T (p.Gly621Val) | |
X | g.53405375C>G | CA413252574 | SMC1A | c.1928G>C (p.Gly643Ala) c.1160G>C (p.Gly387Ala) n.1280G>C c.1862G>C (p.Gly621Ala) | |
X | g.53405375C>T | CA413252575 | SMC1A | c.1928G>A (p.Gly643Glu) c.1160G>A (p.Gly387Glu) n.1280G>A c.1862G>A (p.Gly621Glu) | |
X | g.53405376C>A | CA413252578 | SMC1A | c.1927G>T (p.Gly643Ter) c.1159G>T (p.Gly387Ter) n.1279G>T c.1861G>T (p.Gly621Ter) | ClinVar |
X | g.53405376C>G | CA413252580 | SMC1A | c.1927G>C (p.Gly643Arg) c.1159G>C (p.Gly387Arg) n.1279G>C c.1861G>C (p.Gly621Arg) | |
X | g.53405376C>T | CA413252577 | SMC1A | c.1927G>A (p.Gly643Arg) c.1159G>A (p.Gly387Arg) n.1279G>A c.1861G>A (p.Gly621Arg) | |
X | g.53405377A>C | CA413252582 | SMC1A | c.1926T>G (p.Asp642Glu) c.1158T>G (p.Asp386Glu) n.1278T>G c.1860T>G (p.Asp620Glu) | |
X | g.53405377A>G | CA516688311 | SMC1A | c.1926T>C (p.Asp642=) c.1158T>C (p.Asp386=) n.1278T>C c.1860T>C (p.Asp620=) | |
X | g.53405377A>T | CA413252584 | SMC1A | c.1926T>A (p.Asp642Glu) c.1158T>A (p.Asp386Glu) n.1278T>A c.1860T>A (p.Asp620Glu) | |
X | g.53405378T>A | CA413252585 | SMC1A | c.1925A>T (p.Asp642Val) c.1157A>T (p.Asp386Val) n.1277A>T c.1859A>T (p.Asp620Val) | |
X | g.53405378T>C | CA413252587 | SMC1A | c.1925A>G (p.Asp642Gly) c.1157A>G (p.Asp386Gly) n.1277A>G c.1859A>G (p.Asp620Gly) | |
X | g.53405378T>G | CA413252589 | SMC1A | c.1925A>C (p.Asp642Ala) c.1157A>C (p.Asp386Ala) n.1277A>C c.1859A>C (p.Asp620Ala) |