| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53405254C>A | CA413252118 | SMC1A | c.2049G>T (p.Glu683Asp) c.1281G>T (p.Glu427Asp) n.1401G>T c.1983G>T (p.Glu661Asp) | |
| X | g.53405254C= | CA2429825237 | SMC1A | c.2049G= (p.Glu683=) c.1281G= (p.Glu427=) n.1401G= c.1983G= (p.Glu661=) | |
| X | g.53405254C>G | CA413252119 | SMC1A | c.2049G>C (p.Glu683Asp) c.1281G>C (p.Glu427Asp) n.1401G>C c.1983G>C (p.Glu661Asp) | |
| X | g.53405254C>T | CA516688064 | SMC1A | c.2049G>A (p.Glu683=) c.1281G>A (p.Glu427=) n.1401G>A c.1983G>A (p.Glu661=) | ClinVar dbSNP gnomAD v4 |
| X | g.53405254_53405257delinsCTCT | CA2429825236 | SMC1A | c.2046_2049delinsAGAG (p.Thr682=) c.1278_1281delinsAGAG (p.Thr426=) n.1398_1401delinsAGAG c.1980_1983delinsAGAG (p.Thr660=) | |
| X | g.53405255T>A | CA413252124 | SMC1A | c.2048A>T (p.Glu683Val) c.1280A>T (p.Glu427Val) n.1400A>T c.1982A>T (p.Glu661Val) | |
| X | g.53405255T>C | CA413252121 | SMC1A | c.2048A>G (p.Glu683Gly) c.1280A>G (p.Glu427Gly) n.1400A>G c.1982A>G (p.Glu661Gly) | |
| X | g.53405255T>G | CA413252123 | SMC1A | c.2048A>C (p.Glu683Ala) c.1280A>C (p.Glu427Ala) n.1400A>C c.1982A>C (p.Glu661Ala) | |
| X | g.53405255_53405257del | CA277080 | SMC1A | c.2046_2048del (p.Glu683del) c.1278_1280del (p.Glu427del) n.1398_1400del c.1980_1982del (p.Glu661del) | ClinVar dbSNP |
| X | g.53405256C>A | CA413252128 | SMC1A | c.2047G>T (p.Glu683Ter) c.1279G>T (p.Glu427Ter) n.1399G>T c.1981G>T (p.Glu661Ter) | |
| X | g.53405256C>G | CA413252126 | SMC1A | c.2047G>C (p.Glu683Gln) c.1279G>C (p.Glu427Gln) n.1399G>C c.1981G>C (p.Glu661Gln) | |
| X | g.53405256C>T | CA413252127 | SMC1A | c.2047G>A (p.Glu683Lys) c.1279G>A (p.Glu427Lys) n.1399G>A c.1981G>A (p.Glu661Lys) | |
| X | g.53405257T>A | CA516688067 | SMC1A | c.2046A>T (p.Thr682=) c.1278A>T (p.Thr426=) n.1398A>T c.1980A>T (p.Thr660=) | |
| X | g.53405257T>C | CA516688069 | SMC1A | c.2046A>G (p.Thr682=) c.1278A>G (p.Thr426=) n.1398A>G c.1980A>G (p.Thr660=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53405257T>G | CA516688070 | SMC1A | c.2046A>C (p.Thr682=) c.1278A>C (p.Thr426=) n.1398A>C c.1980A>C (p.Thr660=) | |
| X | g.53405257T= | CA2429825238 | SMC1A | c.2046A= (p.Thr682=) c.1278A= (p.Thr426=) n.1398A= c.1980A= (p.Thr660=) | |
| X | g.53405258G>A | CA413252130 | SMC1A | c.2045C>T (p.Thr682Ile) c.1277C>T (p.Thr426Ile) n.1397C>T c.1979C>T (p.Thr660Ile) | |
| X | g.53405258G>C | CA413252132 | SMC1A | c.2045C>G (p.Thr682Arg) c.1277C>G (p.Thr426Arg) n.1397C>G c.1979C>G (p.Thr660Arg) | |
| X | g.53405258G>T | CA413252133 | SMC1A | c.2045C>A (p.Thr682Lys) c.1277C>A (p.Thr426Lys) n.1397C>A c.1979C>A (p.Thr660Lys) | |
| X | g.53405259T>A | CA413252134 | SMC1A | c.2044A>T (p.Thr682Ser) c.1276A>T (p.Thr426Ser) n.1396A>T c.1978A>T (p.Thr660Ser) | |
| X | g.53405259T>C | CA413252135 | SMC1A | c.2044A>G (p.Thr682Ala) c.1276A>G (p.Thr426Ala) n.1396A>G c.1978A>G (p.Thr660Ala) | |
| X | g.53405259T>G | CA413252136 | SMC1A | c.2044A>C (p.Thr682Pro) c.1276A>C (p.Thr426Pro) n.1396A>C c.1978A>C (p.Thr660Pro) | |
| X | g.53405259T= | CA2429825239 | SMC1A | c.2044A= (p.Thr682=) c.1276A= (p.Thr426=) n.1396A= c.1978A= (p.Thr660=) | |
| X | g.53405260C>A | CA413252138 | SMC1A | c.2043G>T (p.Leu681Phe) c.1275G>T (p.Leu425Phe) n.1395G>T c.1977G>T (p.Leu659Phe) | |
| X | g.53405260C>G | CA413252139 | SMC1A | c.2043G>C (p.Leu681Phe) c.1275G>C (p.Leu425Phe) n.1395G>C c.1977G>C (p.Leu659Phe) | |
| X | g.53405260C>T | CA516688074 | SMC1A | c.2043G>A (p.Leu681=) c.1275G>A (p.Leu425=) n.1395G>A c.1977G>A (p.Leu659=) | |
| X | g.53405263_53405264insGACAAG | CA2429825240 | SMC1A | c.2043_2044insTCCTTG (p.Leu681_Thr682insSerLeu) c.1275_1276insTCCTTG (p.Leu425_Thr426insSerLeu) n.1395_1396insTCCTTG c.1977_1978insTCCTTG (p.Leu659_Thr660insSerLeu) | dbSNP |
| X | g.53405261A>C | CA413252141 | SMC1A | c.2042T>G (p.Leu681Trp) c.1274T>G (p.Leu425Trp) n.1394T>G c.1976T>G (p.Leu659Trp) | |
| X | g.53405261A>G | CA413252142 | SMC1A | c.2042T>C (p.Leu681Ser) c.1274T>C (p.Leu425Ser) n.1394T>C c.1976T>C (p.Leu659Ser) | |
| X | g.53405261A>T | CA413252144 | SMC1A | c.2042T>A (p.Leu681Ter) c.1274T>A (p.Leu425Ter) n.1394T>A c.1976T>A (p.Leu659Ter) | |
| X | g.53405262A>C | CA413252145 | SMC1A | c.2041T>G (p.Leu681Val) c.1273T>G (p.Leu425Val) n.1393T>G c.1975T>G (p.Leu659Val) | |
| X | g.53405262A>G | CA516688075 | SMC1A | c.2041T>C (p.Leu681=) c.1273T>C (p.Leu425=) n.1393T>C c.1975T>C (p.Leu659=) | gnomAD v4 |
| X | g.53405262A>T | CA413252147 | SMC1A | c.2041T>A (p.Leu681Met) c.1273T>A (p.Leu425Met) n.1393T>A c.1975T>A (p.Leu659Met) | |
| X | g.53405263G>A | CA329907256 | SMC1A | c.2040C>T (p.Arg680=) c.1272C>T (p.Arg424=) n.1392C>T c.1974C>T (p.Arg658=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53405263G>C | CA516688078 | SMC1A | c.2040C>G (p.Arg680=) c.1272C>G (p.Arg424=) n.1392C>G c.1974C>G (p.Arg658=) | |
| X | g.53405263G= | CA2429825241 | SMC1A | c.2040C= (p.Arg680=) c.1272C= (p.Arg424=) n.1392C= c.1974C= (p.Arg658=) | |
| X | g.53405263G>T | CA516688079 | SMC1A | c.2040C>A (p.Arg680=) c.1272C>A (p.Arg424=) n.1392C>A c.1974C>A (p.Arg658=) | |
| X | g.53405265_53405266del | CA2580612339 | SMC1A | c.2039_2040del (p.Arg680LeufsTer?) c.1271_1272del (p.Arg424LeufsTer?) n.1391_1392del c.1973_1974del (p.Arg658LeufsTer?) | ClinVar dbSNP |
| X | g.53405264C>A | CA413252152 | SMC1A | c.2039G>T (p.Arg680Leu) c.1271G>T (p.Arg424Leu) n.1391G>T c.1973G>T (p.Arg658Leu) | |
| X | g.53405264C= | CA2429825242 | SMC1A | c.2039G= (p.Arg680=) c.1271G= (p.Arg424=) n.1391G= c.1973G= (p.Arg658=) | |
| X | g.53405264C>G | CA413252156 | SMC1A | c.2039G>C (p.Arg680Pro) c.1271G>C (p.Arg424Pro) n.1391G>C c.1973G>C (p.Arg658Pro) | |
| X | g.53405264C>T | CA413252154 | SMC1A | c.2039G>A (p.Arg680His) c.1271G>A (p.Arg424His) n.1391G>A c.1973G>A (p.Arg658His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.53405265G>A | CA413252158 | SMC1A | c.2038C>T (p.Arg680Cys) c.1270C>T (p.Arg424Cys) n.1390C>T c.1972C>T (p.Arg658Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.53405265G>C | CA413252159 | SMC1A | c.2038C>G (p.Arg680Gly) c.1270C>G (p.Arg424Gly) n.1390C>G c.1972C>G (p.Arg658Gly) | |
| X | g.53405265G= | CA2429825243 | SMC1A | c.2038C= (p.Arg680=) c.1270C= (p.Arg424=) n.1390C= c.1972C= (p.Arg658=) | |
| X | g.53405265G>T | CA413252161 | SMC1A | c.2038C>A (p.Arg680Ser) c.1270C>A (p.Arg424Ser) n.1390C>A c.1972C>A (p.Arg658Ser) | |
| X | g.53405266C>A | CA413252163 | SMC1A | c.2037G>T (p.Glu679Asp) c.1269G>T (p.Glu423Asp) n.1389G>T c.1971G>T (p.Glu657Asp) | |
| X | g.53405266C= | CA2429825244 | SMC1A | c.2037G= (p.Glu679=) c.1269G= (p.Glu423=) n.1389G= c.1971G= (p.Glu657=) | |
| X | g.53405266C>G | CA413252164 | SMC1A | c.2037G>C (p.Glu679Asp) c.1269G>C (p.Glu423Asp) n.1389G>C c.1971G>C (p.Glu657Asp) | |
| X | g.53405266C>T | CA10420489 | SMC1A | c.2037G>A (p.Glu679=) c.1269G>A (p.Glu423=) n.1389G>A c.1971G>A (p.Glu657=) | dbSNP ExAC |
| X | g.53405267T>A | CA413252167 | SMC1A | c.2036A>T (p.Glu679Val) c.1268A>T (p.Glu423Val) n.1388A>T c.1970A>T (p.Glu657Val) | |
| X | g.53405267T>C | CA413252169 | SMC1A | c.2036A>G (p.Glu679Gly) c.1268A>G (p.Glu423Gly) n.1388A>G c.1970A>G (p.Glu657Gly) | |
| X | g.53405267T>G | CA413252171 | SMC1A | c.2036A>C (p.Glu679Ala) c.1268A>C (p.Glu423Ala) n.1388A>C c.1970A>C (p.Glu657Ala) | |
| X | g.53405268C>A | CA413252173 | SMC1A | c.2035G>T (p.Glu679Ter) c.1267G>T (p.Glu423Ter) n.1387G>T c.1969G>T (p.Glu657Ter) | ClinVar dbSNP |
| X | g.53405268C= | CA2429825245 | SMC1A | c.2035G= (p.Glu679=) c.1267G= (p.Glu423=) n.1387G= c.1969G= (p.Glu657=) | |
| X | g.53405268C>G | CA413252174 | SMC1A | c.2035G>C (p.Glu679Gln) c.1267G>C (p.Glu423Gln) n.1387G>C c.1969G>C (p.Glu657Gln) | |
| X | g.53405268C>T | CA413252177 | SMC1A | c.2035G>A (p.Glu679Lys) c.1267G>A (p.Glu423Lys) n.1387G>A c.1969G>A (p.Glu657Lys) | gnomAD v4 |
| X | g.53405269C>A | CA413252178 | SMC1A | c.2034G>T (p.Lys678Asn) c.1266G>T (p.Lys422Asn) n.1386G>T c.1968G>T (p.Lys656Asn) | |
| X | g.53405269C= | CA2429825246 | SMC1A | c.2034G= (p.Lys678=) c.1266G= (p.Lys422=) n.1386G= c.1968G= (p.Lys656=) | |
| X | g.53405269C>G | CA413252179 | SMC1A | c.2034G>C (p.Lys678Asn) c.1266G>C (p.Lys422Asn) n.1386G>C c.1968G>C (p.Lys656Asn) | |
| X | g.53405269C>T | CA10420490 | SMC1A | c.2034G>A (p.Lys678=) c.1266G>A (p.Lys422=) n.1386G>A c.1968G>A (p.Lys656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53405274_53405276del | CA2580612340 | SMC1A | c.2032_2034del (p.Lys678del) c.1264_1266del (p.Lys422del) n.1384_1386del c.1966_1968del (p.Lys656del) | ClinVar dbSNP |
| X | g.53405270T>A | CA413252180 | SMC1A | c.2033A>T (p.Lys678Met) c.1265A>T (p.Lys422Met) n.1385A>T c.1967A>T (p.Lys656Met) | |
| X | g.53405270T>C | CA413252181 | SMC1A | c.2033A>G (p.Lys678Arg) c.1265A>G (p.Lys422Arg) n.1385A>G c.1967A>G (p.Lys656Arg) | |
| X | g.53405270T>G | CA413252182 | SMC1A | c.2033A>C (p.Lys678Thr) c.1265A>C (p.Lys422Thr) n.1385A>C c.1967A>C (p.Lys656Thr) | |
| X | g.53405271T>A | CA413252184 | SMC1A | c.2032A>T (p.Lys678Ter) c.1264A>T (p.Lys422Ter) n.1384A>T c.1966A>T (p.Lys656Ter) | |
| X | g.53405271T>C | CA413252185 | SMC1A | c.2032A>G (p.Lys678Glu) c.1264A>G (p.Lys422Glu) n.1384A>G c.1966A>G (p.Lys656Glu) | |
| X | g.53405271T>G | CA413252187 | SMC1A | c.2032A>C (p.Lys678Gln) c.1264A>C (p.Lys422Gln) n.1384A>C c.1966A>C (p.Lys656Gln) | |
| X | g.53405272C>A | CA413252189 | SMC1A | c.2031G>T (p.Lys677Asn) c.1263G>T (p.Lys421Asn) n.1383G>T c.1965G>T (p.Lys655Asn) | |
| X | g.53405272C>G | CA413252191 | SMC1A | c.2031G>C (p.Lys677Asn) c.1263G>C (p.Lys421Asn) n.1383G>C c.1965G>C (p.Lys655Asn) | |
| X | g.53405272C>T | CA516688095 | SMC1A | c.2031G>A (p.Lys677=) c.1263G>A (p.Lys421=) n.1383G>A c.1965G>A (p.Lys655=) | gnomAD v4 |
| X | g.53405273T>A | CA413252192 | SMC1A | c.2030A>T (p.Lys677Met) c.1262A>T (p.Lys421Met) n.1382A>T c.1964A>T (p.Lys655Met) | |
| X | g.53405273T>C | CA413252196 | SMC1A | c.2030A>G (p.Lys677Arg) c.1262A>G (p.Lys421Arg) n.1382A>G c.1964A>G (p.Lys655Arg) | |
| X | g.53405273T>G | CA413252197 | SMC1A | c.2030A>C (p.Lys677Thr) c.1262A>C (p.Lys421Thr) n.1382A>C c.1964A>C (p.Lys655Thr) | |
| X | g.53405274T>A | CA413252199 | SMC1A | c.2029A>T (p.Lys677Ter) c.1261A>T (p.Lys421Ter) n.1381A>T c.1963A>T (p.Lys655Ter) | |
| X | g.53405274T>C | CA413252200 | SMC1A | c.2029A>G (p.Lys677Glu) c.1261A>G (p.Lys421Glu) n.1381A>G c.1963A>G (p.Lys655Glu) | |
| X | g.53405274T>G | CA413252201 | SMC1A | c.2029A>C (p.Lys677Gln) c.1261A>C (p.Lys421Gln) n.1381A>C c.1963A>C (p.Lys655Gln) | |
| X | g.53405275C>A | CA413252202 | SMC1A | c.2028G>T (p.Glu676Asp) c.1260G>T (p.Glu420Asp) n.1380G>T c.1962G>T (p.Glu654Asp) | COSMIC |
| X | g.53405275C>G | CA413252204 | SMC1A | c.2028G>C (p.Glu676Asp) c.1260G>C (p.Glu420Asp) n.1380G>C c.1962G>C (p.Glu654Asp) | |
| X | g.53405275C>T | CA516688099 | SMC1A | c.2028G>A (p.Glu676=) c.1260G>A (p.Glu420=) n.1380G>A c.1962G>A (p.Glu654=) | |
| X | g.53405276T>A | CA413252205 | SMC1A | c.2027A>T (p.Glu676Val) c.1259A>T (p.Glu420Val) n.1379A>T c.1961A>T (p.Glu654Val) | |
| X | g.53405276T>C | CA413252206 | SMC1A | c.2027A>G (p.Glu676Gly) c.1259A>G (p.Glu420Gly) n.1379A>G c.1961A>G (p.Glu654Gly) | |
| X | g.53405276T>G | CA413252207 | SMC1A | c.2027A>C (p.Glu676Ala) c.1259A>C (p.Glu420Ala) n.1379A>C c.1961A>C (p.Glu654Ala) | |
| X | g.53405277C>A | CA413252208 | SMC1A | c.2026G>T (p.Glu676Ter) c.1258G>T (p.Glu420Ter) n.1378G>T c.1960G>T (p.Glu654Ter) | |
| X | g.53405277C>G | CA413252210 | SMC1A | c.2026G>C (p.Glu676Gln) c.1258G>C (p.Glu420Gln) n.1378G>C c.1960G>C (p.Glu654Gln) | |
| X | g.53405277C>T | CA413252211 | SMC1A | c.2026G>A (p.Glu676Lys) c.1258G>A (p.Glu420Lys) n.1378G>A c.1960G>A (p.Glu654Lys) | |
| 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) |