Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53405279T>ACA413252214SMC1Ac.2024A>T (p.Lys675Ile)
c.1256A>T (p.Lys419Ile)
n.1376A>T
c.1958A>T (p.Lys653Ile)
Xg.53405279T>CCA413252215SMC1Ac.2024A>G (p.Lys675Arg)
c.1256A>G (p.Lys419Arg)
n.1376A>G
c.1958A>G (p.Lys653Arg)
Xg.53405279T>GCA413252217SMC1Ac.2024A>C (p.Lys675Thr)
c.1256A>C (p.Lys419Thr)
n.1376A>C
c.1958A>C (p.Lys653Thr)
Xg.53405280T>ACA413252220SMC1Ac.2023A>T (p.Lys675Ter)
c.1255A>T (p.Lys419Ter)
n.1375A>T
c.1957A>T (p.Lys653Ter)
Xg.53405280T>CCA413252224SMC1Ac.2023A>G (p.Lys675Glu)
c.1255A>G (p.Lys419Glu)
n.1375A>G
c.1957A>G (p.Lys653Glu)
Xg.53405280T>GCA413252222SMC1Ac.2023A>C (p.Lys675Gln)
c.1255A>C (p.Lys419Gln)
n.1375A>C
c.1957A>C (p.Lys653Gln)
Xg.53405281C>ACA413252225SMC1Ac.2022G>T (p.Leu674Phe)
c.1254G>T (p.Leu418Phe)
n.1374G>T
c.1956G>T (p.Leu652Phe)
Xg.53405281C>GCA413252226SMC1Ac.2022G>C (p.Leu674Phe)
c.1254G>C (p.Leu418Phe)
n.1374G>C
c.1956G>C (p.Leu652Phe)
Xg.53405281C>TCA516688110SMC1Ac.2022G>A (p.Leu674=)
c.1254G>A (p.Leu418=)
n.1374G>A
c.1956G>A (p.Leu652=)
 gnomAD v4
Xg.53405282A>CCA413252229SMC1Ac.2021T>G (p.Leu674Trp)
c.1253T>G (p.Leu418Trp)
n.1373T>G
c.1955T>G (p.Leu652Trp)
Xg.53405282A>GCA413252230SMC1Ac.2021T>C (p.Leu674Ser)
c.1253T>C (p.Leu418Ser)
n.1373T>C
c.1955T>C (p.Leu652Ser)
Xg.53405282A>TCA413252232SMC1Ac.2021T>A (p.Leu674Ter)
c.1253T>A (p.Leu418Ter)
n.1373T>A
c.1955T>A (p.Leu652Ter)
Xg.53405283A>CCA413252233SMC1Ac.2020T>G (p.Leu674Val)
c.1252T>G (p.Leu418Val)
n.1372T>G
c.1954T>G (p.Leu652Val)
Xg.53405283A>GCA516688112SMC1Ac.2020T>C (p.Leu674=)
c.1252T>C (p.Leu418=)
n.1372T>C
c.1954T>C (p.Leu652=)
Xg.53405283A>TCA413252237SMC1Ac.2020T>A (p.Leu674Met)
c.1252T>A (p.Leu418Met)
n.1372T>A
c.1954T>A (p.Leu652Met)
Xg.53405284C>ACA413252239SMC1Ac.2019G>T (p.Lys673Asn)
c.1251G>T (p.Lys417Asn)
n.1371G>T
c.1953G>T (p.Lys651Asn)
Xg.53405284C>GCA413252240SMC1Ac.2019G>C (p.Lys673Asn)
c.1251G>C (p.Lys417Asn)
n.1371G>C
c.1953G>C (p.Lys651Asn)
Xg.53405284C>TCA516688113SMC1Ac.2019G>A (p.Lys673=)
c.1251G>A (p.Lys417=)
n.1371G>A
c.1953G>A (p.Lys651=)
Xg.53405285T>ACA413252241SMC1Ac.2018A>T (p.Lys673Met)
c.1250A>T (p.Lys417Met)
n.1370A>T
c.1952A>T (p.Lys651Met)
Xg.53405285T>CCA413252243SMC1Ac.2018A>G (p.Lys673Arg)
c.1250A>G (p.Lys417Arg)
n.1370A>G
c.1952A>G (p.Lys651Arg)
 gnomAD v4
Xg.53405285T>GCA413252244SMC1Ac.2018A>C (p.Lys673Thr)
c.1250A>C (p.Lys417Thr)
n.1370A>C
c.1952A>C (p.Lys651Thr)
Xg.53405286T>ACA413252245SMC1Ac.2017A>T (p.Lys673Ter)
c.1249A>T (p.Lys417Ter)
n.1369A>T
c.1951A>T (p.Lys651Ter)
Xg.53405286T>CCA413252247SMC1Ac.2017A>G (p.Lys673Glu)
c.1249A>G (p.Lys417Glu)
n.1369A>G
c.1951A>G (p.Lys651Glu)
Xg.53405286T>GCA413252248SMC1Ac.2017A>C (p.Lys673Gln)
c.1249A>C (p.Lys417Gln)
n.1369A>C
c.1951A>C (p.Lys651Gln)
Xg.53405287G>ACA10420491SMC1Ac.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
Xg.53405287G>CCA10420492SMC1Ac.2016C>G (p.Asp672Glu)
c.1248C>G (p.Asp416Glu)
n.1368C>G
c.1950C>G (p.Asp650Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53405287G=CA2429825247SMC1Ac.2016C= (p.Asp672=)
c.1248C= (p.Asp416=)
n.1368C=
c.1950C= (p.Asp650=)
Xg.53405287G>TCA413252250SMC1Ac.2016C>A (p.Asp672Glu)
c.1248C>A (p.Asp416Glu)
n.1368C>A
c.1950C>A (p.Asp650Glu)
Xg.53405288T>ACA413252253SMC1Ac.2015A>T (p.Asp672Val)
c.1247A>T (p.Asp416Val)
n.1367A>T
c.1949A>T (p.Asp650Val)
Xg.53405288T>CCA413252254SMC1Ac.2015A>G (p.Asp672Gly)
c.1247A>G (p.Asp416Gly)
n.1367A>G
c.1949A>G (p.Asp650Gly)
Xg.53405288T>GCA413252256SMC1Ac.2015A>C (p.Asp672Ala)
c.1247A>C (p.Asp416Ala)
n.1367A>C
c.1949A>C (p.Asp650Ala)
Xg.53405289C>ACA413252258SMC1Ac.2014G>T (p.Asp672Tyr)
c.1246G>T (p.Asp416Tyr)
n.1366G>T
c.1948G>T (p.Asp650Tyr)
Xg.53405289C>GCA413252260SMC1Ac.2014G>C (p.Asp672His)
c.1246G>C (p.Asp416His)
n.1366G>C
c.1948G>C (p.Asp650His)
Xg.53405289C>TCA413252262SMC1Ac.2014G>A (p.Asp672Asn)
c.1246G>A (p.Asp416Asn)
n.1366G>A
c.1948G>A (p.Asp650Asn)
Xg.53405290T>ACA516688119SMC1Ac.2013A>T (p.Val671=)
c.1245A>T (p.Val415=)
n.1365A>T
c.1947A>T (p.Val649=)
Xg.53405290T>CCA10420493SMC1Ac.2013A>G (p.Val671=)
c.1245A>G (p.Val415=)
n.1365A>G
c.1947A>G (p.Val649=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53405290T>GCA516688122SMC1Ac.2013A>C (p.Val671=)
c.1245A>C (p.Val415=)
n.1365A>C
c.1947A>C (p.Val649=)
Xg.53405290T=CA2429825248SMC1Ac.2013A= (p.Val671=)
c.1245A= (p.Val415=)
n.1365A=
c.1947A= (p.Val649=)
Xg.53405291A>CCA413252265SMC1Ac.2012T>G (p.Val671Gly)
c.1244T>G (p.Val415Gly)
n.1364T>G
c.1946T>G (p.Val649Gly)
Xg.53405291A>GCA413252266SMC1Ac.2012T>C (p.Val671Ala)
c.1244T>C (p.Val415Ala)
n.1364T>C
c.1946T>C (p.Val649Ala)
Xg.53405291A>TCA413252268SMC1Ac.2012T>A (p.Val671Glu)
c.1244T>A (p.Val415Glu)
n.1364T>A
c.1946T>A (p.Val649Glu)
Xg.53405292C>ACA413252272SMC1Ac.2011G>T (p.Val671Leu)
c.1243G>T (p.Val415Leu)
n.1363G>T
c.1945G>T (p.Val649Leu)
Xg.53405292C>GCA413252271SMC1Ac.2011G>C (p.Val671Leu)
c.1243G>C (p.Val415Leu)
n.1363G>C
c.1945G>C (p.Val649Leu)
Xg.53405292C>TCA413252270SMC1Ac.2011G>A (p.Val671Ile)
c.1243G>A (p.Val415Ile)
n.1363G>A
c.1945G>A (p.Val649Ile)
 ClinVar gnomAD v4
Xg.53405293T>ACA516688128SMC1Ac.2010A>T (p.Ala670=)
c.1242A>T (p.Ala414=)
n.1362A>T
c.1944A>T (p.Ala648=)
Xg.53405293T>CCA10420494SMC1Ac.2010A>G (p.Ala670=)
c.1242A>G (p.Ala414=)
n.1362A>G
c.1944A>G (p.Ala648=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53405293T>GCA516688129SMC1Ac.2010A>C (p.Ala670=)
c.1242A>C (p.Ala414=)
n.1362A>C
c.1944A>C (p.Ala648=)
Xg.53405293T=CA2429825249SMC1Ac.2010A= (p.Ala670=)
c.1242A= (p.Ala414=)
n.1362A=
c.1944A= (p.Ala648=)
Xg.53405294G>ACA413252275SMC1Ac.2009C>T (p.Ala670Val)
c.1241C>T (p.Ala414Val)
n.1361C>T
c.1943C>T (p.Ala648Val)
Xg.53405294G>CCA413252277SMC1Ac.2009C>G (p.Ala670Gly)
c.1241C>G (p.Ala414Gly)
n.1361C>G
c.1943C>G (p.Ala648Gly)
Xg.53405294G>TCA413252278SMC1Ac.2009C>A (p.Ala670Glu)
c.1241C>A (p.Ala414Glu)
n.1361C>A
c.1943C>A (p.Ala648Glu)
Xg.53405295C>ACA413252280SMC1Ac.2008G>T (p.Ala670Ser)
c.1240G>T (p.Ala414Ser)
n.1360G>T
c.1942G>T (p.Ala648Ser)
Xg.53405295C>GCA413252282SMC1Ac.2008G>C (p.Ala670Pro)
c.1240G>C (p.Ala414Pro)
n.1360G>C
c.1942G>C (p.Ala648Pro)
Xg.53405295C>TCA413252283SMC1Ac.2008G>A (p.Ala670Thr)
c.1240G>A (p.Ala414Thr)
n.1360G>A
c.1942G>A (p.Ala648Thr)
Xg.53405296T>ACA413252285SMC1Ac.2007A>T (p.Lys669Asn)
c.1239A>T (p.Lys413Asn)
n.1359A>T
c.1941A>T (p.Lys647Asn)
Xg.53405296T>CCA516688137SMC1Ac.2007A>G (p.Lys669=)
c.1239A>G (p.Lys413=)
n.1359A>G
c.1941A>G (p.Lys647=)
Xg.53405296T>GCA413252286SMC1Ac.2007A>C (p.Lys669Asn)
c.1239A>C (p.Lys413Asn)
n.1359A>C
c.1941A>C (p.Lys647Asn)
Xg.53405297T>ACA413252288SMC1Ac.2006A>T (p.Lys669Ile)
c.1238A>T (p.Lys413Ile)
n.1358A>T
c.1940A>T (p.Lys647Ile)
Xg.53405297T>CCA413252289SMC1Ac.2006A>G (p.Lys669Arg)
c.1238A>G (p.Lys413Arg)
n.1358A>G
c.1940A>G (p.Lys647Arg)
Xg.53405297T>GCA413252291SMC1Ac.2006A>C (p.Lys669Thr)
c.1238A>C (p.Lys413Thr)
n.1358A>C
c.1940A>C (p.Lys647Thr)
Xg.53405298T>ACA413252297SMC1Ac.2005A>T (p.Lys669Ter)
c.1237A>T (p.Lys413Ter)
n.1357A>T
c.1939A>T (p.Lys647Ter)
Xg.53405298T>CCA413252296SMC1Ac.2005A>G (p.Lys669Glu)
c.1237A>G (p.Lys413Glu)
n.1357A>G
c.1939A>G (p.Lys647Glu)
Xg.53405298T>GCA413252293SMC1Ac.2005A>C (p.Lys669Gln)
c.1237A>C (p.Lys413Gln)
n.1357A>C
c.1939A>C (p.Lys647Gln)
Xg.53405299C>ACA413252299SMC1Ac.2004G>T (p.Glu668Asp)
c.1236G>T (p.Glu412Asp)
n.1356G>T
c.1938G>T (p.Glu646Asp)
Xg.53405299C=CA2429825250SMC1Ac.2004G= (p.Glu668=)
c.1236G= (p.Glu412=)
n.1356G=
c.1938G= (p.Glu646=)
Xg.53405299C>GCA413252301SMC1Ac.2004G>C (p.Glu668Asp)
c.1236G>C (p.Glu412Asp)
n.1356G>C
c.1938G>C (p.Glu646Asp)
Xg.53405299C>TCA516688145SMC1Ac.2004G>A (p.Glu668=)
c.1236G>A (p.Glu412=)
n.1356G>A
c.1938G>A (p.Glu646=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53405300T>ACA413252303SMC1Ac.2003A>T (p.Glu668Val)
c.1235A>T (p.Glu412Val)
n.1355A>T
c.1937A>T (p.Glu646Val)
Xg.53405300T>CCA413252305SMC1Ac.2003A>G (p.Glu668Gly)
c.1235A>G (p.Glu412Gly)
n.1355A>G
c.1937A>G (p.Glu646Gly)
Xg.53405300T>GCA413252307SMC1Ac.2003A>C (p.Glu668Ala)
c.1235A>C (p.Glu412Ala)
n.1355A>C
c.1937A>C (p.Glu646Ala)
Xg.53405301C>ACA413252309SMC1Ac.2002G>T (p.Glu668Ter)
c.1234G>T (p.Glu412Ter)
n.1354G>T
c.1936G>T (p.Glu646Ter)
Xg.53405301C>GCA413252311SMC1Ac.2002G>C (p.Glu668Gln)
c.1234G>C (p.Glu412Gln)
n.1354G>C
c.1936G>C (p.Glu646Gln)
Xg.53405301C>TCA413252312SMC1Ac.2002G>A (p.Glu668Lys)
c.1234G>A (p.Glu412Lys)
n.1354G>A
c.1936G>A (p.Glu646Lys)
Xg.53405302A>CCA413252314SMC1Ac.2001T>G (p.Asp667Glu)
c.1233T>G (p.Asp411Glu)
n.1353T>G
c.1935T>G (p.Asp645Glu)
Xg.53405302A>GCA516688149SMC1Ac.2001T>C (p.Asp667=)
c.1233T>C (p.Asp411=)
n.1353T>C
c.1935T>C (p.Asp645=)
Xg.53405302A>TCA413252315SMC1Ac.2001T>A (p.Asp667Glu)
c.1233T>A (p.Asp411Glu)
n.1353T>A
c.1935T>A (p.Asp645Glu)
Xg.53405303T>ACA413252317SMC1Ac.2000A>T (p.Asp667Val)
c.1232A>T (p.Asp411Val)
n.1352A>T
c.1934A>T (p.Asp645Val)
 ClinVar
Xg.53405303T>CCA413252319SMC1Ac.2000A>G (p.Asp667Gly)
c.1232A>G (p.Asp411Gly)
n.1352A>G
c.1934A>G (p.Asp645Gly)
Xg.53405303T>GCA413252320SMC1Ac.2000A>C (p.Asp667Ala)
c.1232A>C (p.Asp411Ala)
n.1352A>C
c.1934A>C (p.Asp645Ala)
Xg.53405304C>ACA413252324SMC1Ac.1999G>T (p.Asp667Tyr)
c.1231G>T (p.Asp411Tyr)
n.1351G>T
c.1933G>T (p.Asp645Tyr)
Xg.53405304C>GCA413252326SMC1Ac.1999G>C (p.Asp667His)
c.1231G>C (p.Asp411His)
n.1351G>C
c.1933G>C (p.Asp645His)
Xg.53405304C>TCA413252322SMC1Ac.1999G>A (p.Asp667Asn)
c.1231G>A (p.Asp411Asn)
n.1351G>A
c.1933G>A (p.Asp645Asn)
Xg.53405305C>ACA413252327SMC1Ac.1998G>T (p.Trp666Cys)
c.1230G>T (p.Trp410Cys)
n.1350G>T
c.1932G>T (p.Trp644Cys)
Xg.53405305C>GCA413252329SMC1Ac.1998G>C (p.Trp666Cys)
c.1230G>C (p.Trp410Cys)
n.1350G>C
c.1932G>C (p.Trp644Cys)
Xg.53405305C>TCA413252330SMC1Ac.1998G>A (p.Trp666Ter)
c.1230G>A (p.Trp410Ter)
n.1350G>A
c.1932G>A (p.Trp644Ter)
Xg.53405306C>ACA413252332SMC1Ac.1997G>T (p.Trp666Leu)
c.1229G>T (p.Trp410Leu)
n.1349G>T
c.1931G>T (p.Trp644Leu)
Xg.53405306C>GCA413252334SMC1Ac.1997G>C (p.Trp666Ser)
c.1229G>C (p.Trp410Ser)
n.1349G>C
c.1931G>C (p.Trp644Ser)
Xg.53405306C>TCA413252335SMC1Ac.1997G>A (p.Trp666Ter)
c.1229G>A (p.Trp410Ter)
n.1349G>A
c.1931G>A (p.Trp644Ter)
Xg.53405307A=CA2429825251SMC1Ac.1996T= (p.Trp666=)
c.1228T= (p.Trp410=)
n.1348T=
c.1930T= (p.Trp644=)
Xg.53405307A>CCA413252340SMC1Ac.1996T>G (p.Trp666Gly)
c.1228T>G (p.Trp410Gly)
n.1348T>G
c.1930T>G (p.Trp644Gly)
Xg.53405307A>GCA16043595SMC1Ac.1996T>C (p.Trp666Arg)
c.1228T>C (p.Trp410Arg)
n.1348T>C
c.1930T>C (p.Trp644Arg)
 ClinVar dbSNP
Xg.53405307A>TCA413252337SMC1Ac.1996T>A (p.Trp666Arg)
c.1228T>A (p.Trp410Arg)
n.1348T>A
c.1930T>A (p.Trp644Arg)
Xg.53405308G>ACA516688158SMC1Ac.1995C>T (p.Arg665=)
c.1227C>T (p.Arg409=)
n.1347C>T
c.1929C>T (p.Arg643=)
Xg.53405308G>CCA516688156SMC1Ac.1995C>G (p.Arg665=)
c.1227C>G (p.Arg409=)
n.1347C>G
c.1929C>G (p.Arg643=)
Xg.53405308G>TCA516688157SMC1Ac.1995C>A (p.Arg665=)
c.1227C>A (p.Arg409=)
n.1347C>A
c.1929C>A (p.Arg643=)
Xg.53405310_53405316delCA2697553121SMC1Ac.1989_1995del (p.Arg664GlyfsTer6)
c.1221_1227del (p.Arg408GlyfsTer6)
n.1341_1347del
c.1923_1929del (p.Arg642GlyfsTer6)
 ClinVar
Xg.53405309C>ACA413252341SMC1Ac.1994G>T (p.Arg665Leu)
c.1226G>T (p.Arg409Leu)
n.1346G>T
c.1928G>T (p.Arg643Leu)
Xg.53405309C>GCA413252342SMC1Ac.1994G>C (p.Arg665Pro)
c.1226G>C (p.Arg409Pro)
n.1346G>C
c.1928G>C (p.Arg643Pro)
Xg.53405309C>TCA413252344SMC1Ac.1994G>A (p.Arg665His)
c.1226G>A (p.Arg409His)
n.1346G>A
c.1928G>A (p.Arg643His)
 ClinVar gnomAD v4
Xg.53405310G>ACA413252346SMC1Ac.1993C>T (p.Arg665Cys)
c.1225C>T (p.Arg409Cys)
n.1345C>T
c.1927C>T (p.Arg643Cys)
Xg.53405310G>CCA329907257SMC1Ac.1993C>G (p.Arg665Gly)
c.1225C>G (p.Arg409Gly)
n.1345C>G
c.1927C>G (p.Arg643Gly)
 dbSNP
Xg.53405310G=CA2429825252SMC1Ac.1993C= (p.Arg665=)
c.1225C= (p.Arg409=)
n.1345C=
c.1927C= (p.Arg643=)
Xg.53405310G>TCA413252348SMC1Ac.1993C>A (p.Arg665Ser)
c.1225C>A (p.Arg409Ser)
n.1345C>A
c.1927C>A (p.Arg643Ser)
Xg.53405311C>ACA516688165SMC1Ac.1992G>T (p.Arg664=)
c.1224G>T (p.Arg408=)
n.1344G>T
c.1926G>T (p.Arg642=)
Xg.53405311C>GCA516688167SMC1Ac.1992G>C (p.Arg664=)
c.1224G>C (p.Arg408=)
n.1344G>C
c.1926G>C (p.Arg642=)
Xg.53405311C>TCA516688168SMC1Ac.1992G>A (p.Arg664=)
c.1224G>A (p.Arg408=)
n.1344G>A
c.1926G>A (p.Arg642=)
Xg.53405312C>ACA413252354SMC1Ac.1991G>T (p.Arg664Leu)
c.1223G>T (p.Arg408Leu)
n.1343G>T
c.1925G>T (p.Arg642Leu)
Xg.53405312C>GCA413252350SMC1Ac.1991G>C (p.Arg664Pro)
c.1223G>C (p.Arg408Pro)
n.1343G>C
c.1925G>C (p.Arg642Pro)
Xg.53405312C>TCA413252352SMC1Ac.1991G>A (p.Arg664Gln)
c.1223G>A (p.Arg408Gln)
n.1343G>A
c.1925G>A (p.Arg642Gln)
Xg.53405312_53405313delinsCGCA2429825253SMC1Ac.1990_1991delinsCG (p.Arg664=)
c.1222_1223delinsCG (p.Arg408=)
n.1342_1343delinsCG
c.1924_1925delinsCG (p.Arg642=)
Xg.53405313delCA516688172SMC1Ac.1990del (p.Arg664GlyfsTer8)
c.1222del (p.Arg408GlyfsTer8)
n.1342del
c.1924del (p.Arg642GlyfsTer8)
 ClinVar dbSNP COSMIC
Xg.53405313G>ACA413252355SMC1Ac.1990C>T (p.Arg664Trp)
c.1222C>T (p.Arg408Trp)
n.1342C>T
c.1924C>T (p.Arg642Trp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.53405313G>CCA413252356SMC1Ac.1990C>G (p.Arg664Gly)
c.1222C>G (p.Arg408Gly)
n.1342C>G
c.1924C>G (p.Arg642Gly)
Xg.53405313G=CA2429825254SMC1Ac.1990C= (p.Arg664=)
c.1222C= (p.Arg408=)
n.1342C=
c.1924C= (p.Arg642=)
Xg.53405313G>TCA516688174SMC1Ac.1990C>A (p.Arg664=)
c.1222C>A (p.Arg408=)
n.1342C>A
c.1924C>A (p.Arg642=)
Xg.53405314T>ACA516688176SMC1Ac.1989A>T (p.Ala663=)
c.1221A>T (p.Ala407=)
n.1341A>T
c.1923A>T (p.Ala641=)
Xg.53405314T>CCA516688175SMC1Ac.1989A>G (p.Ala663=)
c.1221A>G (p.Ala407=)
n.1341A>G
c.1923A>G (p.Ala641=)
 gnomAD v4
Xg.53405314T>GCA516688177SMC1Ac.1989A>C (p.Ala663=)
c.1221A>C (p.Ala407=)
n.1341A>C
c.1923A>C (p.Ala641=)
Xg.53405315G>ACA413252359SMC1Ac.1988C>T (p.Ala663Val)
c.1220C>T (p.Ala407Val)
n.1340C>T
c.1922C>T (p.Ala641Val)
Xg.53405315G>CCA413252361SMC1Ac.1988C>G (p.Ala663Gly)
c.1220C>G (p.Ala407Gly)
n.1340C>G
c.1922C>G (p.Ala641Gly)
Xg.53405315G>TCA413252362SMC1Ac.1988C>A (p.Ala663Glu)
c.1220C>A (p.Ala407Glu)
n.1340C>A
c.1922C>A (p.Ala641Glu)
Xg.53405316C>ACA413252364SMC1Ac.1987G>T (p.Ala663Ser)
c.1219G>T (p.Ala407Ser)
n.1339G>T
c.1921G>T (p.Ala641Ser)
Xg.53405316C>GCA413252365SMC1Ac.1987G>C (p.Ala663Pro)
c.1219G>C (p.Ala407Pro)
n.1339G>C
c.1921G>C (p.Ala641Pro)
Xg.53405316C>TCA413252367SMC1Ac.1987G>A (p.Ala663Thr)
c.1219G>A (p.Ala407Thr)
n.1339G>A
c.1921G>A (p.Ala641Thr)
Xg.53405317C>ACA413252368SMC1Ac.1986G>T (p.Lys662Asn)
c.1218G>T (p.Lys406Asn)
n.1338G>T
c.1920G>T (p.Lys640Asn)
Xg.53405317C=CA2429825255SMC1Ac.1986G= (p.Lys662=)
c.1218G= (p.Lys406=)
n.1338G=
c.1920G= (p.Lys640=)
Xg.53405317C>GCA329907258SMC1Ac.1986G>C (p.Lys662Asn)
c.1218G>C (p.Lys406Asn)
n.1338G>C
c.1920G>C (p.Lys640Asn)
 dbSNP
Xg.53405317C>TCA516688180SMC1Ac.1986G>A (p.Lys662=)
c.1218G>A (p.Lys406=)
n.1338G>A
c.1920G>A (p.Lys640=)
Xg.53405318T>ACA413252370SMC1Ac.1985A>T (p.Lys662Met)
c.1217A>T (p.Lys406Met)
n.1337A>T
c.1919A>T (p.Lys640Met)
Xg.53405318T>CCA413252372SMC1Ac.1985A>G (p.Lys662Arg)
c.1217A>G (p.Lys406Arg)
n.1337A>G
c.1919A>G (p.Lys640Arg)
 gnomAD v4
Xg.53405318T>GCA413252374SMC1Ac.1985A>C (p.Lys662Thr)
c.1217A>C (p.Lys406Thr)
n.1337A>C
c.1919A>C (p.Lys640Thr)
Xg.53405319T>ACA413252378SMC1Ac.1984A>T (p.Lys662Ter)
c.1216A>T (p.Lys406Ter)
n.1336A>T
c.1918A>T (p.Lys640Ter)
Xg.53405319T>CCA413252375SMC1Ac.1984A>G (p.Lys662Glu)
c.1216A>G (p.Lys406Glu)
n.1336A>G
c.1918A>G (p.Lys640Glu)
Xg.53405319T>GCA413252376SMC1Ac.1984A>C (p.Lys662Gln)
c.1216A>C (p.Lys406Gln)
n.1336A>C
c.1918A>C (p.Lys640Gln)
Xg.53405320G>ACA516688185SMC1Ac.1983C>T (p.Ala661=)
c.1215C>T (p.Ala405=)
n.1335C>T
c.1917C>T (p.Ala639=)
Xg.53405320G>CCA516688186SMC1Ac.1983C>G (p.Ala661=)
c.1215C>G (p.Ala405=)
n.1335C>G
c.1917C>G (p.Ala639=)
Xg.53405320G>TCA516688187SMC1Ac.1983C>A (p.Ala661=)
c.1215C>A (p.Ala405=)
n.1335C>A
c.1917C>A (p.Ala639=)
Xg.53405321G>ACA413252380SMC1Ac.1982C>T (p.Ala661Val)
c.1214C>T (p.Ala405Val)
n.1334C>T
c.1916C>T (p.Ala639Val)
Xg.53405321G>CCA413252382SMC1Ac.1982C>G (p.Ala661Gly)
c.1214C>G (p.Ala405Gly)
n.1334C>G
c.1916C>G (p.Ala639Gly)
Xg.53405321G>TCA413252383SMC1Ac.1982C>A (p.Ala661Asp)
c.1214C>A (p.Ala405Asp)
n.1334C>A
c.1916C>A (p.Ala639Asp)
Xg.53405322C>ACA413252385SMC1Ac.1981G>T (p.Ala661Ser)
c.1213G>T (p.Ala405Ser)
n.1333G>T
c.1915G>T (p.Ala639Ser)
Xg.53405322C>GCA413252387SMC1Ac.1981G>C (p.Ala661Pro)
c.1213G>C (p.Ala405Pro)
n.1333G>C
c.1915G>C (p.Ala639Pro)
Xg.53405322C>TCA413252388SMC1Ac.1981G>A (p.Ala661Thr)
c.1213G>A (p.Ala405Thr)
n.1333G>A
c.1915G>A (p.Ala639Thr)
Xg.53405323C>ACA413252391SMC1Ac.1980G>T (p.Lys660Asn)
c.1212G>T (p.Lys404Asn)
n.1332G>T
c.1914G>T (p.Lys638Asn)
Xg.53405323C>GCA413252390SMC1Ac.1980G>C (p.Lys660Asn)
c.1212G>C (p.Lys404Asn)
n.1332G>C
c.1914G>C (p.Lys638Asn)
Xg.53405323C>TCA516688197SMC1Ac.1980G>A (p.Lys660=)
c.1212G>A (p.Lys404=)
n.1332G>A
c.1914G>A (p.Lys638=)
Xg.53405324T>ACA413252393SMC1Ac.1979A>T (p.Lys660Met)
c.1211A>T (p.Lys404Met)
n.1331A>T
c.1913A>T (p.Lys638Met)
Xg.53405324T>CCA413252395SMC1Ac.1979A>G (p.Lys660Arg)
c.1211A>G (p.Lys404Arg)
n.1331A>G
c.1913A>G (p.Lys638Arg)
Xg.53405324T>GCA413252397SMC1Ac.1979A>C (p.Lys660Thr)
c.1211A>C (p.Lys404Thr)
n.1331A>C
c.1913A>C (p.Lys638Thr)
Xg.53405325T>ACA413252398SMC1Ac.1978A>T (p.Lys660Ter)
c.1210A>T (p.Lys404Ter)
n.1330A>T
c.1912A>T (p.Lys638Ter)
Xg.53405325T>CCA413252400SMC1Ac.1978A>G (p.Lys660Glu)
c.1210A>G (p.Lys404Glu)
n.1330A>G
c.1912A>G (p.Lys638Glu)
Xg.53405325T>GCA413252402SMC1Ac.1978A>C (p.Lys660Gln)
c.1210A>C (p.Lys404Gln)
n.1330A>C
c.1912A>C (p.Lys638Gln)
Xg.53405326delCA2573055364SMC1Ac.1977del (p.Lys660ArgfsTer12)
c.1209del (p.Lys404ArgfsTer12)
n.1329del
c.1911del (p.Lys638ArgfsTer12)
 ClinVar dbSNP
Xg.53405326C>ACA516688200SMC1Ac.1977G>T (p.Leu659=)
c.1209G>T (p.Leu403=)
n.1329G>T
c.1911G>T (p.Leu637=)
Xg.53405326C>GCA516688202SMC1Ac.1977G>C (p.Leu659=)
c.1209G>C (p.Leu403=)
n.1329G>C
c.1911G>C (p.Leu637=)
Xg.53405326C>TCA516688204SMC1Ac.1977G>A (p.Leu659=)
c.1209G>A (p.Leu403=)
n.1329G>A
c.1911G>A (p.Leu637=)
 ClinVar dbSNP
Xg.53405327A>CCA413252407SMC1Ac.1976T>G (p.Leu659Arg)
c.1208T>G (p.Leu403Arg)
n.1328T>G
c.1910T>G (p.Leu637Arg)
Xg.53405327A>GCA413252404SMC1Ac.1976T>C (p.Leu659Pro)
c.1208T>C (p.Leu403Pro)
n.1328T>C
c.1910T>C (p.Leu637Pro)
Xg.53405327A>TCA413252405SMC1Ac.1976T>A (p.Leu659Gln)
c.1208T>A (p.Leu403Gln)
n.1328T>A
c.1910T>A (p.Leu637Gln)
Xg.53405328G>ACA516688206SMC1Ac.1975C>T (p.Leu659=)
c.1207C>T (p.Leu403=)
n.1327C>T
c.1909C>T (p.Leu637=)
Xg.53405328G>CCA413252409SMC1Ac.1975C>G (p.Leu659Val)
c.1207C>G (p.Leu403Val)
n.1327C>G
c.1909C>G (p.Leu637Val)
Xg.53405328G>TCA413252411SMC1Ac.1975C>A (p.Leu659Met)
c.1207C>A (p.Leu403Met)
n.1327C>A
c.1909C>A (p.Leu637Met)
Xg.53405329G>ACA516688208SMC1Ac.1974C>T (p.Asp658=)
c.1206C>T (p.Asp402=)
n.1326C>T
c.1908C>T (p.Asp636=)
Xg.53405329G>CCA413252412SMC1Ac.1974C>G (p.Asp658Glu)
c.1206C>G (p.Asp402Glu)
n.1326C>G
c.1908C>G (p.Asp636Glu)
Xg.53405329G>TCA413252413SMC1Ac.1974C>A (p.Asp658Glu)
c.1206C>A (p.Asp402Glu)
n.1326C>A
c.1908C>A (p.Asp636Glu)
Xg.53405330T>ACA413252414SMC1Ac.1973A>T (p.Asp658Val)
c.1205A>T (p.Asp402Val)
n.1325A>T
c.1907A>T (p.Asp636Val)
Xg.53405330T>CCA413252416SMC1Ac.1973A>G (p.Asp658Gly)
c.1205A>G (p.Asp402Gly)
n.1325A>G
c.1907A>G (p.Asp636Gly)
Xg.53405330T>GCA413252418SMC1Ac.1973A>C (p.Asp658Ala)
c.1205A>C (p.Asp402Ala)
n.1325A>C
c.1907A>C (p.Asp636Ala)
Xg.53405331C>ACA413252419SMC1Ac.1972G>T (p.Asp658Tyr)
c.1204G>T (p.Asp402Tyr)
n.1324G>T
c.1906G>T (p.Asp636Tyr)
Xg.53405331C>GCA413252421SMC1Ac.1972G>C (p.Asp658His)
c.1204G>C (p.Asp402His)
n.1324G>C
c.1906G>C (p.Asp636His)
Xg.53405331C>TCA413252422SMC1Ac.1972G>A (p.Asp658Asn)
c.1204G>A (p.Asp402Asn)
n.1324G>A
c.1906G>A (p.Asp636Asn)
Xg.53405332A>CCA413252423SMC1Ac.1971T>G (p.Ser657Arg)
c.1203T>G (p.Ser401Arg)
n.1323T>G
c.1905T>G (p.Ser635Arg)
Xg.53405332A>GCA516688214SMC1Ac.1971T>C (p.Ser657=)
c.1203T>C (p.Ser401=)
n.1323T>C
c.1905T>C (p.Ser635=)
Xg.53405332A>TCA413252424SMC1Ac.1971T>A (p.Ser657Arg)
c.1203T>A (p.Ser401Arg)
n.1323T>A
c.1905T>A (p.Ser635Arg)
 ClinVar dbSNP
Xg.53405333C>ACA413252426SMC1Ac.1970G>T (p.Ser657Ile)
c.1202G>T (p.Ser401Ile)
n.1322G>T
c.1904G>T (p.Ser635Ile)
Xg.53405333C>GCA413252429SMC1Ac.1970G>C (p.Ser657Thr)
c.1202G>C (p.Ser401Thr)
n.1322G>C
c.1904G>C (p.Ser635Thr)
Xg.53405333C>TCA413252427SMC1Ac.1970G>A (p.Ser657Asn)
c.1202G>A (p.Ser401Asn)
n.1322G>A
c.1904G>A (p.Ser635Asn)
Xg.53405334T>ACA413252430SMC1Ac.1969A>T (p.Ser657Cys)
c.1201A>T (p.Ser401Cys)
n.1321A>T
c.1903A>T (p.Ser635Cys)
Xg.53405334T>CCA413252433SMC1Ac.1969A>G (p.Ser657Gly)
c.1201A>G (p.Ser401Gly)
n.1321A>G
c.1903A>G (p.Ser635Gly)
Xg.53405334T>GCA413252431SMC1Ac.1969A>C (p.Ser657Arg)
c.1201A>C (p.Ser401Arg)
n.1321A>C
c.1903A>C (p.Ser635Arg)
Xg.53405335G>ACA516688218SMC1Ac.1968C>T (p.Ala656=)
c.1200C>T (p.Ala400=)
n.1320C>T
c.1902C>T (p.Ala634=)
Xg.53405335G>CCA516688219SMC1Ac.1968C>G (p.Ala656=)
c.1200C>G (p.Ala400=)
n.1320C>G
c.1902C>G (p.Ala634=)
Xg.53405335G>TCA516688220SMC1Ac.1968C>A (p.Ala656=)
c.1200C>A (p.Ala400=)
n.1320C>A
c.1902C>A (p.Ala634=)
Xg.53405336G>ACA413252434SMC1Ac.1967C>T (p.Ala656Val)
c.1199C>T (p.Ala400Val)
n.1319C>T
c.1901C>T (p.Ala634Val)
Xg.53405336G>CCA413252436SMC1Ac.1967C>G (p.Ala656Gly)
c.1199C>G (p.Ala400Gly)
n.1319C>G
c.1901C>G (p.Ala634Gly)
Xg.53405336G>TCA413252437SMC1Ac.1967C>A (p.Ala656Asp)
c.1199C>A (p.Ala400Asp)
n.1319C>A
c.1901C>A (p.Ala634Asp)
Xg.53405337C>ACA413252439SMC1Ac.1966G>T (p.Ala656Ser)
c.1198G>T (p.Ala400Ser)
n.1318G>T
c.1900G>T (p.Ala634Ser)
Xg.53405337C>GCA413252441SMC1Ac.1966G>C (p.Ala656Pro)
c.1198G>C (p.Ala400Pro)
n.1318G>C
c.1900G>C (p.Ala634Pro)
Xg.53405337C>TCA413252442SMC1Ac.1966G>A (p.Ala656Thr)
c.1198G>A (p.Ala400Thr)
n.1318G>A
c.1900G>A (p.Ala634Thr)
Xg.53405338_53405340dupCA2820946814SMC1Ac.1964_1966dup (p.Gly655_Ala656insGly)
c.1196_1198dup (p.Gly399_Ala400insGly)
n.1316_1318dup
c.1898_1900dup (p.Gly633_Ala634insGly)
Xg.53405338C>ACA516688224SMC1Ac.1965G>T (p.Gly655=)
c.1197G>T (p.Gly399=)
n.1317G>T
c.1899G>T (p.Gly633=)
Xg.53405338C>GCA516688225SMC1Ac.1965G>C (p.Gly655=)
c.1197G>C (p.Gly399=)
n.1317G>C
c.1899G>C (p.Gly633=)
Xg.53405338C>TCA516688226SMC1Ac.1965G>A (p.Gly655=)
c.1197G>A (p.Gly399=)
n.1317G>A
c.1899G>A (p.Gly633=)
Xg.53405339C>ACA413252444SMC1Ac.1964G>T (p.Gly655Val)
c.1196G>T (p.Gly399Val)
n.1316G>T
c.1898G>T (p.Gly633Val)
Xg.53405339C=CA2429825256SMC1Ac.1964G= (p.Gly655=)
c.1196G= (p.Gly399=)
n.1316G=
c.1898G= (p.Gly633=)
Xg.53405339C>GCA413252446SMC1Ac.1964G>C (p.Gly655Ala)
c.1196G>C (p.Gly399Ala)
n.1316G>C
c.1898G>C (p.Gly633Ala)
Xg.53405339C>TCA413252447SMC1Ac.1964G>A (p.Gly655Glu)
c.1196G>A (p.Gly399Glu)
n.1316G>A
c.1898G>A (p.Gly633Glu)
 ClinVar dbSNP
Xg.53405340C>ACA413252449SMC1Ac.1963G>T (p.Gly655Trp)
c.1195G>T (p.Gly399Trp)
n.1315G>T
c.1897G>T (p.Gly633Trp)
Xg.53405340C>GCA413252451SMC1Ac.1963G>C (p.Gly655Arg)
c.1195G>C (p.Gly399Arg)
n.1315G>C
c.1897G>C (p.Gly633Arg)
Xg.53405340C>TCA413252452SMC1Ac.1963G>A (p.Gly655Arg)
c.1195G>A (p.Gly399Arg)
n.1315G>A
c.1897G>A (p.Gly633Arg)
Xg.53405341A>CCA516688232SMC1Ac.1962T>G (p.Gly654=)
c.1194T>G (p.Gly398=)
n.1314T>G
c.1896T>G (p.Gly632=)
 ClinVar
Xg.53405341A>GCA516688233SMC1Ac.1962T>C (p.Gly654=)
c.1194T>C (p.Gly398=)
n.1314T>C
c.1896T>C (p.Gly632=)
Xg.53405341A>TCA516688234SMC1Ac.1962T>A (p.Gly654=)
c.1194T>A (p.Gly398=)
n.1314T>A
c.1896T>A (p.Gly632=)
Xg.53405342C>ACA413252454SMC1Ac.1961G>T (p.Gly654Val)
c.1193G>T (p.Gly398Val)
n.1313G>T
c.1895G>T (p.Gly632Val)
 ClinVar
Xg.53405342C>GCA413252457SMC1Ac.1961G>C (p.Gly654Ala)
c.1193G>C (p.Gly398Ala)
n.1313G>C
c.1895G>C (p.Gly632Ala)
Xg.53405342C>TCA413252456SMC1Ac.1961G>A (p.Gly654Asp)
c.1193G>A (p.Gly398Asp)
n.1313G>A
c.1895G>A (p.Gly632Asp)
Xg.53405342_53405343insACCAAACACACCCAACACA2820946821SMC1Ac.1960_1961insTGTTGGGTGTGTTTGGT (p.Gly654ValfsTer12)
c.1192_1193insTGTTGGGTGTGTTTGGT (p.Gly398ValfsTer12)
n.1312_1313insTGTTGGGTGTGTTTGGT
c.1894_1895insTGTTGGGTGTGTTTGGT (p.Gly632ValfsTer12)
Xg.53405343C>ACA413252459SMC1Ac.1960G>T (p.Gly654Cys)
c.1192G>T (p.Gly398Cys)
n.1312G>T
c.1894G>T (p.Gly632Cys)
Xg.53405343C>GCA413252461SMC1Ac.1960G>C (p.Gly654Arg)
c.1192G>C (p.Gly398Arg)
n.1312G>C
c.1894G>C (p.Gly632Arg)
Xg.53405343C>TCA413252462SMC1Ac.1960G>A (p.Gly654Ser)
c.1192G>A (p.Gly398Ser)
n.1312G>A
c.1894G>A (p.Gly632Ser)
Xg.53405344A>CCA516688239SMC1Ac.1959T>G (p.Ser653=)
c.1191T>G (p.Ser397=)
n.1311T>G
c.1893T>G (p.Ser631=)
Xg.53405344A>GCA516688240SMC1Ac.1959T>C (p.Ser653=)
c.1191T>C (p.Ser397=)
n.1311T>C
c.1893T>C (p.Ser631=)
Xg.53405344A>TCA516688241SMC1Ac.1959T>A (p.Ser653=)
c.1191T>A (p.Ser397=)
n.1311T>A
c.1893T>A (p.Ser631=)
Xg.53405345G>ACA413252464SMC1Ac.1958C>T (p.Ser653Phe)
c.1190C>T (p.Ser397Phe)
n.1310C>T
c.1892C>T (p.Ser631Phe)
 ClinVar dbSNP
Xg.53405345G>CCA413252465SMC1Ac.1958C>G (p.Ser653Cys)
c.1190C>G (p.Ser397Cys)
n.1310C>G
c.1892C>G (p.Ser631Cys)
Xg.53405345G=CA2429825257SMC1Ac.1958C= (p.Ser653=)
c.1190C= (p.Ser397=)
n.1310C=
c.1892C= (p.Ser631=)
Xg.53405345G>TCA413252467SMC1Ac.1958C>A (p.Ser653Tyr)
c.1190C>A (p.Ser397Tyr)
n.1310C>A
c.1892C>A (p.Ser631Tyr)
Xg.53405346A>CCA413252469SMC1Ac.1957T>G (p.Ser653Ala)
c.1189T>G (p.Ser397Ala)
n.1309T>G
c.1891T>G (p.Ser631Ala)
Xg.53405346A>GCA413252471SMC1Ac.1957T>C (p.Ser653Pro)
c.1189T>C (p.Ser397Pro)
n.1309T>C
c.1891T>C (p.Ser631Pro)
Xg.53405346A>TCA413252472SMC1Ac.1957T>A (p.Ser653Thr)
c.1189T>A (p.Ser397Thr)
n.1309T>A
c.1891T>A (p.Ser631Thr)
Xg.53405347G>ACA516688246SMC1Ac.1956C>T (p.Ile652=)
c.1188C>T (p.Ile396=)
n.1308C>T
c.1890C>T (p.Ile630=)
Xg.53405347G>CCA413252474SMC1Ac.1956C>G (p.Ile652Met)
c.1188C>G (p.Ile396Met)
n.1308C>G
c.1890C>G (p.Ile630Met)
Xg.53405347G>TCA516688247SMC1Ac.1956C>A (p.Ile652=)
c.1188C>A (p.Ile396=)
n.1308C>A
c.1890C>A (p.Ile630=)
Xg.53405348A>CCA413252476SMC1Ac.1955T>G (p.Ile652Ser)
c.1187T>G (p.Ile396Ser)
n.1307T>G
c.1889T>G (p.Ile630Ser)
Xg.53405348A>GCA413252478SMC1Ac.1955T>C (p.Ile652Thr)
c.1187T>C (p.Ile396Thr)
n.1307T>C
c.1889T>C (p.Ile630Thr)
Xg.53405348A>TCA413252475SMC1Ac.1955T>A (p.Ile652Asn)
c.1187T>A (p.Ile396Asn)
n.1307T>A
c.1889T>A (p.Ile630Asn)
Xg.53405349T>ACA413252480SMC1Ac.1954A>T (p.Ile652Phe)
c.1186A>T (p.Ile396Phe)
n.1306A>T
c.1888A>T (p.Ile630Phe)
Xg.53405349T>CCA413252481SMC1Ac.1954A>G (p.Ile652Val)
c.1186A>G (p.Ile396Val)
n.1306A>G
c.1888A>G (p.Ile630Val)
Xg.53405349T>GCA413252482SMC1Ac.1954A>C (p.Ile652Leu)
c.1186A>C (p.Ile396Leu)
n.1306A>C
c.1888A>C (p.Ile630Leu)
Xg.53405350C>ACA516688257SMC1Ac.1953G>T (p.Val651=)
c.1185G>T (p.Val395=)
n.1305G>T
c.1887G>T (p.Val629=)
Xg.53405350C>GCA516688256SMC1Ac.1953G>C (p.Val651=)
c.1185G>C (p.Val395=)
n.1305G>C
c.1887G>C (p.Val629=)
Xg.53405350C>TCA516688255SMC1Ac.1953G>A (p.Val651=)
c.1185G>A (p.Val395=)
n.1305G>A
c.1887G>A (p.Val629=)
Xg.53405351A>CCA413252484SMC1Ac.1952T>G (p.Val651Gly)
c.1184T>G (p.Val395Gly)
n.1304T>G
c.1886T>G (p.Val629Gly)
Xg.53405351A>GCA413252485SMC1Ac.1952T>C (p.Val651Ala)
c.1184T>C (p.Val395Ala)
n.1304T>C
c.1886T>C (p.Val629Ala)
Xg.53405351A>TCA413252487SMC1Ac.1952T>A (p.Val651Glu)
c.1184T>A (p.Val395Glu)
n.1304T>A
c.1886T>A (p.Val629Glu)
Xg.53405352C>ACA413252489SMC1Ac.1951G>T (p.Val651Leu)
c.1183G>T (p.Val395Leu)
n.1303G>T
c.1885G>T (p.Val629Leu)
Xg.53405352C>GCA413252491SMC1Ac.1951G>C (p.Val651Leu)
c.1183G>C (p.Val395Leu)
n.1303G>C
c.1885G>C (p.Val629Leu)
Xg.53405352C>TCA413252492SMC1Ac.1951G>A (p.Val651Met)
c.1183G>A (p.Val395Met)
n.1303G>A
c.1885G>A (p.Val629Met)
Xg.53405353T>ACA516688261SMC1Ac.1950A>T (p.Gly650=)
c.1182A>T (p.Gly394=)
n.1302A>T
c.1884A>T (p.Gly628=)
Xg.53405353T>CCA516688262SMC1Ac.1950A>G (p.Gly650=)
c.1182A>G (p.Gly394=)
n.1302A>G
c.1884A>G (p.Gly628=)
Xg.53405353T>GCA516688263SMC1Ac.1950A>C (p.Gly650=)
c.1182A>C (p.Gly394=)
n.1302A>C
c.1884A>C (p.Gly628=)
 dbSNP gnomAD v4
Xg.53405353T=CA2429825258SMC1Ac.1950A= (p.Gly650=)
c.1182A= (p.Gly394=)
n.1302A=
c.1884A= (p.Gly628=)
Xg.53405354C>ACA413252493SMC1Ac.1949G>T (p.Gly650Val)
c.1181G>T (p.Gly394Val)
n.1301G>T
c.1883G>T (p.Gly628Val)
Xg.53405354C>GCA413252495SMC1Ac.1949G>C (p.Gly650Ala)
c.1181G>C (p.Gly394Ala)
n.1301G>C
c.1883G>C (p.Gly628Ala)
Xg.53405354C>TCA413252497SMC1Ac.1949G>A (p.Gly650Glu)
c.1181G>A (p.Gly394Glu)
n.1301G>A
c.1883G>A (p.Gly628Glu)
Xg.53405355C>ACA413252500SMC1Ac.1948G>T (p.Gly650Ter)
c.1180G>T (p.Gly394Ter)
n.1300G>T
c.1882G>T (p.Gly628Ter)
Xg.53405355C>GCA413252502SMC1Ac.1948G>C (p.Gly650Arg)
c.1180G>C (p.Gly394Arg)
n.1300G>C
c.1882G>C (p.Gly628Arg)
Xg.53405355C>TCA413252499SMC1Ac.1948G>A (p.Gly650Arg)
c.1180G>A (p.Gly394Arg)
n.1300G>A
c.1882G>A (p.Gly628Arg)
Xg.53405356T>ACA516688269SMC1Ac.1947A>T (p.Ser649=)
c.1179A>T (p.Ser393=)
n.1299A>T
c.1881A>T (p.Ser627=)
Xg.53405356T>CCA329907259SMC1Ac.1947A>G (p.Ser649=)
c.1179A>G (p.Ser393=)
n.1299A>G
c.1881A>G (p.Ser627=)
 dbSNP
Xg.53405356T>GCA10420495SMC1Ac.1947A>C (p.Ser649=)
c.1179A>C (p.Ser393=)
n.1299A>C
c.1881A>C (p.Ser627=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53405356T=CA2429825259SMC1Ac.1947A= (p.Ser649=)
c.1179A= (p.Ser393=)
n.1299A=
c.1881A= (p.Ser627=)
Xg.53405357G>ACA413252505SMC1Ac.1946C>T (p.Ser649Leu)
c.1178C>T (p.Ser393Leu)
n.1298C>T
c.1880C>T (p.Ser627Leu)
Xg.53405357G>CCA413252506SMC1Ac.1946C>G (p.Ser649Ter)
c.1178C>G (p.Ser393Ter)
n.1298C>G
c.1880C>G (p.Ser627Ter)
Xg.53405357G>TCA413252508SMC1Ac.1946C>A (p.Ser649Ter)
c.1178C>A (p.Ser393Ter)
n.1298C>A
c.1880C>A (p.Ser627Ter)
Xg.53405358A>CCA413252513SMC1Ac.1945T>G (p.Ser649Ala)
c.1177T>G (p.Ser393Ala)
n.1297T>G
c.1879T>G (p.Ser627Ala)
Xg.53405358A>GCA413252510SMC1Ac.1945T>C (p.Ser649Pro)
c.1177T>C (p.Ser393Pro)
n.1297T>C
c.1879T>C (p.Ser627Pro)
Xg.53405358A>TCA413252512SMC1Ac.1945T>A (p.Ser649Thr)
c.1177T>A (p.Ser393Thr)
n.1297T>A
c.1879T>A (p.Ser627Thr)
Xg.53405359C>ACA413252515SMC1Ac.1944G>T (p.Lys648Asn)
c.1176G>T (p.Lys392Asn)
n.1296G>T
c.1878G>T (p.Lys626Asn)
Xg.53405359C>GCA413252516SMC1Ac.1944G>C (p.Lys648Asn)
c.1176G>C (p.Lys392Asn)
n.1296G>C
c.1878G>C (p.Lys626Asn)
Xg.53405359C>TCA516688272SMC1Ac.1944G>A (p.Lys648=)
c.1176G>A (p.Lys392=)
n.1296G>A
c.1878G>A (p.Lys626=)
Xg.53405360T>ACA413252518SMC1Ac.1943A>T (p.Lys648Met)
c.1175A>T (p.Lys392Met)
n.1295A>T
c.1877A>T (p.Lys626Met)
Xg.53405360T>CCA413252520SMC1Ac.1943A>G (p.Lys648Arg)
c.1175A>G (p.Lys392Arg)
n.1295A>G
c.1877A>G (p.Lys626Arg)
Xg.53405360T>GCA413252521SMC1Ac.1943A>C (p.Lys648Thr)
c.1175A>C (p.Lys392Thr)
n.1295A>C
c.1877A>C (p.Lys626Thr)
Xg.53405361T>ACA413252524SMC1Ac.1942A>T (p.Lys648Ter)
c.1174A>T (p.Lys392Ter)
n.1294A>T
c.1876A>T (p.Lys626Ter)
Xg.53405361T>CCA413252527SMC1Ac.1942A>G (p.Lys648Glu)
c.1174A>G (p.Lys392Glu)
n.1294A>G
c.1876A>G (p.Lys626Glu)
Xg.53405361T>GCA413252525SMC1Ac.1942A>C (p.Lys648Gln)
c.1174A>C (p.Lys392Gln)
n.1294A>C
c.1876A>C (p.Lys626Gln)
Xg.53405362C>ACA413252528SMC1Ac.1941G>T (p.Gln647His)
c.1173G>T (p.Gln391His)
n.1293G>T
c.1875G>T (p.Gln625His)
 COSMIC
Xg.53405362C=CA2429825260SMC1Ac.1941G= (p.Gln647=)
c.1173G= (p.Gln391=)
n.1293G=
c.1875G= (p.Gln625=)
Xg.53405362C>GCA413252530SMC1Ac.1941G>C (p.Gln647His)
c.1173G>C (p.Gln391His)
n.1293G>C
c.1875G>C (p.Gln625His)
Xg.53405362C>TCA516688276SMC1Ac.1941G>A (p.Gln647=)
c.1173G>A (p.Gln391=)
n.1293G>A
c.1875G>A (p.Gln625=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53405363T>ACA413252531SMC1Ac.1940A>T (p.Gln647Leu)
c.1172A>T (p.Gln391Leu)
n.1292A>T
c.1874A>T (p.Gln625Leu)
Xg.53405363T>CCA413252532SMC1Ac.1940A>G (p.Gln647Arg)
c.1172A>G (p.Gln391Arg)
n.1292A>G
c.1874A>G (p.Gln625Arg)
Xg.53405363T>GCA413252534SMC1Ac.1940A>C (p.Gln647Pro)
c.1172A>C (p.Gln391Pro)
n.1292A>C
c.1874A>C (p.Gln625Pro)
Xg.53405364G>ACA413252535SMC1Ac.1939C>T (p.Gln647Ter)
c.1171C>T (p.Gln391Ter)
n.1291C>T
c.1873C>T (p.Gln625Ter)
Xg.53405364G>CCA413252537SMC1Ac.1939C>G (p.Gln647Glu)
c.1171C>G (p.Gln391Glu)
n.1291C>G
c.1873C>G (p.Gln625Glu)
 COSMIC
Xg.53405364G>TCA413252539SMC1Ac.1939C>A (p.Gln647Lys)
c.1171C>A (p.Gln391Lys)
n.1291C>A
c.1873C>A (p.Gln625Lys)
Xg.53405365G>ACA10420496SMC1Ac.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
Xg.53405365G>CCA413252541SMC1Ac.1938C>G (p.Phe646Leu)
c.1170C>G (p.Phe390Leu)
n.1290C>G
c.1872C>G (p.Phe624Leu)
Xg.53405365G=CA2429825261SMC1Ac.1938C= (p.Phe646=)
c.1170C= (p.Phe390=)
n.1290C=
c.1872C= (p.Phe624=)
Xg.53405365G>TCA413252543SMC1Ac.1938C>A (p.Phe646Leu)
c.1170C>A (p.Phe390Leu)
n.1290C>A
c.1872C>A (p.Phe624Leu)
Xg.53405366A>CCA413252545SMC1Ac.1937T>G (p.Phe646Cys)
c.1169T>G (p.Phe390Cys)
n.1289T>G
c.1871T>G (p.Phe624Cys)
Xg.53405366A>GCA413252547SMC1Ac.1937T>C (p.Phe646Ser)
c.1169T>C (p.Phe390Ser)
n.1289T>C
c.1871T>C (p.Phe624Ser)
Xg.53405366A>TCA413252548SMC1Ac.1937T>A (p.Phe646Tyr)
c.1169T>A (p.Phe390Tyr)
n.1289T>A
c.1871T>A (p.Phe624Tyr)
Xg.53405367A>CCA413252552SMC1Ac.1936T>G (p.Phe646Val)
c.1168T>G (p.Phe390Val)
n.1288T>G
c.1870T>G (p.Phe624Val)
Xg.53405367A>GCA413252551SMC1Ac.1936T>C (p.Phe646Leu)
c.1168T>C (p.Phe390Leu)
n.1288T>C
c.1870T>C (p.Phe624Leu)
Xg.53405367A>TCA413252550SMC1Ac.1936T>A (p.Phe646Ile)
c.1168T>A (p.Phe390Ile)
n.1288T>A
c.1870T>A (p.Phe624Ile)
Xg.53405368T>ACA516688288SMC1Ac.1935A>T (p.Leu645=)
c.1167A>T (p.Leu389=)
n.1287A>T
c.1869A>T (p.Leu623=)
 COSMIC
Xg.53405368T>CCA516688289SMC1Ac.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
Xg.53405368T>GCA516688291SMC1Ac.1935A>C (p.Leu645=)
c.1167A>C (p.Leu389=)
n.1287A>C
c.1869A>C (p.Leu623=)
 ClinVar
Xg.53405368T=CA2429825262SMC1Ac.1935A= (p.Leu645=)
c.1167A= (p.Leu389=)
n.1287A=
c.1869A= (p.Leu623=)
Xg.53405369delCA2695234314SMC1Ac.1934del (p.Leu645HisfsTer7)
c.1166del (p.Leu389HisfsTer7)
n.1286del
c.1868del (p.Leu623HisfsTer7)
Xg.53405369A>CCA413252554SMC1Ac.1934T>G (p.Leu645Arg)
c.1166T>G (p.Leu389Arg)
n.1286T>G
c.1868T>G (p.Leu623Arg)
Xg.53405369A>GCA413252555SMC1Ac.1934T>C (p.Leu645Pro)
c.1166T>C (p.Leu389Pro)
n.1286T>C
c.1868T>C (p.Leu623Pro)
Xg.53405369A>TCA413252556SMC1Ac.1934T>A (p.Leu645Gln)
c.1166T>A (p.Leu389Gln)
n.1286T>A
c.1868T>A (p.Leu623Gln)
Xg.53405370G>ACA329907260SMC1Ac.1933C>T (p.Leu645=)
c.1165C>T (p.Leu389=)
n.1285C>T
c.1867C>T (p.Leu623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53405370G>CCA413252558SMC1Ac.1933C>G (p.Leu645Val)
c.1165C>G (p.Leu389Val)
n.1285C>G
c.1867C>G (p.Leu623Val)
Xg.53405370G=CA2429825263SMC1Ac.1933C= (p.Leu645=)
c.1165C= (p.Leu389=)
n.1285C=
c.1867C= (p.Leu623=)
Xg.53405370G>TCA413252560SMC1Ac.1933C>A (p.Leu645Ile)
c.1165C>A (p.Leu389Ile)
n.1285C>A
c.1867C>A (p.Leu623Ile)
Xg.53405371G>ACA516688296SMC1Ac.1932C>T (p.Thr644=)
c.1164C>T (p.Thr388=)
n.1284C>T
c.1866C>T (p.Thr622=)
Xg.53405371G>CCA516688297SMC1Ac.1932C>G (p.Thr644=)
c.1164C>G (p.Thr388=)
n.1284C>G
c.1866C>G (p.Thr622=)
Xg.53405371G>TCA516688298SMC1Ac.1932C>A (p.Thr644=)
c.1164C>A (p.Thr388=)
n.1284C>A
c.1866C>A (p.Thr622=)
Xg.53405372G>ACA413252562SMC1Ac.1931C>T (p.Thr644Ile)
c.1163C>T (p.Thr388Ile)
n.1283C>T
c.1865C>T (p.Thr622Ile)
Xg.53405372G>CCA413252563SMC1Ac.1931C>G (p.Thr644Ser)
c.1163C>G (p.Thr388Ser)
n.1283C>G
c.1865C>G (p.Thr622Ser)
Xg.53405372G>TCA413252565SMC1Ac.1931C>A (p.Thr644Asn)
c.1163C>A (p.Thr388Asn)
n.1283C>A
c.1865C>A (p.Thr622Asn)
Xg.53405373T>ACA413252567SMC1Ac.1930A>T (p.Thr644Ser)
c.1162A>T (p.Thr388Ser)
n.1282A>T
c.1864A>T (p.Thr622Ser)
Xg.53405373T>CCA413252569SMC1Ac.1930A>G (p.Thr644Ala)
c.1162A>G (p.Thr388Ala)
n.1282A>G
c.1864A>G (p.Thr622Ala)
Xg.53405373T>GCA413252570SMC1Ac.1930A>C (p.Thr644Pro)
c.1162A>C (p.Thr388Pro)
n.1282A>C
c.1864A>C (p.Thr622Pro)
Xg.53405374T>ACA516688301SMC1Ac.1929A>T (p.Gly643=)
c.1161A>T (p.Gly387=)
n.1281A>T
c.1863A>T (p.Gly621=)
Xg.53405374T>CCA516688302SMC1Ac.1929A>G (p.Gly643=)
c.1161A>G (p.Gly387=)
n.1281A>G
c.1863A>G (p.Gly621=)
Xg.53405374T>GCA516688303SMC1Ac.1929A>C (p.Gly643=)
c.1161A>C (p.Gly387=)
n.1281A>C
c.1863A>C (p.Gly621=)
Xg.53405375C>ACA413252572SMC1Ac.1928G>T (p.Gly643Val)
c.1160G>T (p.Gly387Val)
n.1280G>T
c.1862G>T (p.Gly621Val)
Xg.53405375C>GCA413252574SMC1Ac.1928G>C (p.Gly643Ala)
c.1160G>C (p.Gly387Ala)
n.1280G>C
c.1862G>C (p.Gly621Ala)
Xg.53405375C>TCA413252575SMC1Ac.1928G>A (p.Gly643Glu)
c.1160G>A (p.Gly387Glu)
n.1280G>A
c.1862G>A (p.Gly621Glu)
Xg.53405376C>ACA413252578SMC1Ac.1927G>T (p.Gly643Ter)
c.1159G>T (p.Gly387Ter)
n.1279G>T
c.1861G>T (p.Gly621Ter)
 ClinVar
Xg.53405376C>GCA413252580SMC1Ac.1927G>C (p.Gly643Arg)
c.1159G>C (p.Gly387Arg)
n.1279G>C
c.1861G>C (p.Gly621Arg)
Xg.53405376C>TCA413252577SMC1Ac.1927G>A (p.Gly643Arg)
c.1159G>A (p.Gly387Arg)
n.1279G>A
c.1861G>A (p.Gly621Arg)
Xg.53405377A>CCA413252582SMC1Ac.1926T>G (p.Asp642Glu)
c.1158T>G (p.Asp386Glu)
n.1278T>G
c.1860T>G (p.Asp620Glu)
Xg.53405377A>GCA516688311SMC1Ac.1926T>C (p.Asp642=)
c.1158T>C (p.Asp386=)
n.1278T>C
c.1860T>C (p.Asp620=)
Xg.53405377A>TCA413252584SMC1Ac.1926T>A (p.Asp642Glu)
c.1158T>A (p.Asp386Glu)
n.1278T>A
c.1860T>A (p.Asp620Glu)
Xg.53405378T>ACA413252585SMC1Ac.1925A>T (p.Asp642Val)
c.1157A>T (p.Asp386Val)
n.1277A>T
c.1859A>T (p.Asp620Val)
Xg.53405378T>CCA413252587SMC1Ac.1925A>G (p.Asp642Gly)
c.1157A>G (p.Asp386Gly)
n.1277A>G
c.1859A>G (p.Asp620Gly)
Xg.53405378T>GCA413252589SMC1Ac.1925A>C (p.Asp642Ala)
c.1157A>C (p.Asp386Ala)
n.1277A>C
c.1859A>C (p.Asp620Ala)
Xg.53405379C>ACA413252593SMC1Ac.1924G>T (p.Asp642Tyr)
c.1156G>T (p.Asp386Tyr)
n.1276G>T
c.1858G>T (p.Asp620Tyr)
Xg.53405379C>GCA413252592SMC1Ac.1924G>C (p.Asp642His)
c.1156G>C (p.Asp386His)
n.1276G>C
c.1858G>C (p.Asp620His)
Xg.53405379C>TCA413252591SMC1Ac.1924G>A (p.Asp642Asn)
c.1156G>A (p.Asp386Asn)
n.1276G>A
c.1858G>A (p.Asp620Asn)

Number of alleles fetched