Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53405570C>ACA413252961SMC1Ac.1834G>T (p.Ala612Ser)
c.1066G>T (p.Ala356Ser)
n.1186G>T
c.1768G>T (p.Ala590Ser)
Xg.53405570C=CA2429825324SMC1Ac.1834G= (p.Ala612=)
c.1066G= (p.Ala356=)
n.1186G=
c.1768G= (p.Ala590=)
Xg.53405570C>GCA413252963SMC1Ac.1834G>C (p.Ala612Pro)
c.1066G>C (p.Ala356Pro)
n.1186G>C
c.1768G>C (p.Ala590Pro)
Xg.53405570C>TCA234957SMC1Ac.1834G>A (p.Ala612Thr)
c.1066G>A (p.Ala356Thr)
n.1186G>A
c.1768G>A (p.Ala590Thr)
 ClinVar dbSNP
Xg.53405571A>CCA413252966SMC1Ac.1833T>G (p.Tyr611Ter)
c.1065T>G (p.Tyr355Ter)
n.1185T>G
c.1767T>G (p.Tyr589Ter)
Xg.53405571A>GCA516688173SMC1Ac.1833T>C (p.Tyr611=)
c.1065T>C (p.Tyr355=)
n.1185T>C
c.1767T>C (p.Tyr589=)
Xg.53405571A>TCA413252967SMC1Ac.1833T>A (p.Tyr611Ter)
c.1065T>A (p.Tyr355Ter)
n.1185T>A
c.1767T>A (p.Tyr589Ter)
Xg.53405572T>ACA413252969SMC1Ac.1832A>T (p.Tyr611Phe)
c.1064A>T (p.Tyr355Phe)
n.1184A>T
c.1766A>T (p.Tyr589Phe)
Xg.53405572T>CCA413252970SMC1Ac.1832A>G (p.Tyr611Cys)
c.1064A>G (p.Tyr355Cys)
n.1184A>G
c.1766A>G (p.Tyr589Cys)
Xg.53405572T>GCA413252971SMC1Ac.1832A>C (p.Tyr611Ser)
c.1064A>C (p.Tyr355Ser)
n.1184A>C
c.1766A>C (p.Tyr589Ser)
Xg.53405572dupCA2740092158SMC1Ac.1832dup (p.Tyr611Ter)
c.1064dup (p.Tyr355Ter)
n.1184dup
c.1766dup (p.Tyr589Ter)
 ClinVar
Xg.53405573A>CCA413252973SMC1Ac.1831T>G (p.Tyr611Asp)
c.1063T>G (p.Tyr355Asp)
n.1183T>G
c.1765T>G (p.Tyr589Asp)
Xg.53405573A>GCA413252975SMC1Ac.1831T>C (p.Tyr611His)
c.1063T>C (p.Tyr355His)
n.1183T>C
c.1765T>C (p.Tyr589His)
Xg.53405573A>TCA413252976SMC1Ac.1831T>A (p.Tyr611Asn)
c.1063T>A (p.Tyr355Asn)
n.1183T>A
c.1765T>A (p.Tyr589Asn)
Xg.53405574C>ACA413252977SMC1Ac.1830G>T (p.Gln610His)
c.1062G>T (p.Gln354His)
n.1182G>T
c.1764G>T (p.Gln588His)
Xg.53405574C=CA2429825325SMC1Ac.1830G= (p.Gln610=)
c.1062G= (p.Gln354=)
n.1182G=
c.1764G= (p.Gln588=)
Xg.53405574C>GCA413252978SMC1Ac.1830G>C (p.Gln610His)
c.1062G>C (p.Gln354His)
n.1182G>C
c.1764G>C (p.Gln588His)
Xg.53405574C>TCA516688179SMC1Ac.1830G>A (p.Gln610=)
c.1062G>A (p.Gln354=)
n.1182G>A
c.1764G>A (p.Gln588=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.53405575T>ACA413252980SMC1Ac.1829A>T (p.Gln610Leu)
c.1061A>T (p.Gln354Leu)
n.1181A>T
c.1763A>T (p.Gln588Leu)
Xg.53405575T>CCA413252981SMC1Ac.1829A>G (p.Gln610Arg)
c.1061A>G (p.Gln354Arg)
n.1181A>G
c.1763A>G (p.Gln588Arg)
 ClinVar
Xg.53405575T>GCA413252983SMC1Ac.1829A>C (p.Gln610Pro)
c.1061A>C (p.Gln354Pro)
n.1181A>C
c.1763A>C (p.Gln588Pro)
Xg.53405576G>ACA413252987SMC1Ac.1828C>T (p.Gln610Ter)
c.1060C>T (p.Gln354Ter)
n.1180C>T
c.1762C>T (p.Gln588Ter)
Xg.53405576G>CCA413252988SMC1Ac.1828C>G (p.Gln610Glu)
c.1060C>G (p.Gln354Glu)
n.1180C>G
c.1762C>G (p.Gln588Glu)
Xg.53405576G>TCA413252985SMC1Ac.1828C>A (p.Gln610Lys)
c.1060C>A (p.Gln354Lys)
n.1180C>A
c.1762C>A (p.Gln588Lys)
Xg.53405577C>ACA516688182SMC1Ac.1827G>T (p.Leu609=)
c.1059G>T (p.Leu353=)
n.1179G>T
c.1761G>T (p.Leu587=)
Xg.53405577C>GCA516688184SMC1Ac.1827G>C (p.Leu609=)
c.1059G>C (p.Leu353=)
n.1179G>C
c.1761G>C (p.Leu587=)
Xg.53405577C>TCA516688183SMC1Ac.1827G>A (p.Leu609=)
c.1059G>A (p.Leu353=)
n.1179G>A
c.1761G>A (p.Leu587=)
 gnomAD v4
Xg.53405578A>CCA413252991SMC1Ac.1826T>G (p.Leu609Arg)
c.1058T>G (p.Leu353Arg)
n.1178T>G
c.1760T>G (p.Leu587Arg)
Xg.53405578A>GCA413252992SMC1Ac.1826T>C (p.Leu609Pro)
c.1058T>C (p.Leu353Pro)
n.1178T>C
c.1760T>C (p.Leu587Pro)
Xg.53405578A>TCA413252994SMC1Ac.1826T>A (p.Leu609Gln)
c.1058T>A (p.Leu353Gln)
n.1178T>A
c.1760T>A (p.Leu587Gln)
Xg.53405579G>ACA516688188SMC1Ac.1825C>T (p.Leu609=)
c.1057C>T (p.Leu353=)
n.1177C>T
c.1759C>T (p.Leu587=)
Xg.53405579G>CCA413252995SMC1Ac.1825C>G (p.Leu609Val)
c.1057C>G (p.Leu353Val)
n.1177C>G
c.1759C>G (p.Leu587Val)
Xg.53405579G>TCA413252997SMC1Ac.1825C>A (p.Leu609Met)
c.1057C>A (p.Leu353Met)
n.1177C>A
c.1759C>A (p.Leu587Met)
Xg.53405580G>ACA516688192SMC1Ac.1824C>T (p.Ala608=)
c.1056C>T (p.Ala352=)
n.1176C>T
c.1758C>T (p.Ala586=)
 gnomAD v4
Xg.53405580G>CCA516688193SMC1Ac.1824C>G (p.Ala608=)
c.1056C>G (p.Ala352=)
n.1176C>G
c.1758C>G (p.Ala586=)
Xg.53405580G>TCA516688194SMC1Ac.1824C>A (p.Ala608=)
c.1056C>A (p.Ala352=)
n.1176C>A
c.1758C>A (p.Ala586=)
Xg.53405581G>ACA413252999SMC1Ac.1823C>T (p.Ala608Val)
c.1055C>T (p.Ala352Val)
n.1175C>T
c.1757C>T (p.Ala586Val)
Xg.53405581G>CCA413253001SMC1Ac.1823C>G (p.Ala608Gly)
c.1055C>G (p.Ala352Gly)
n.1175C>G
c.1757C>G (p.Ala586Gly)
Xg.53405581G>TCA413253002SMC1Ac.1823C>A (p.Ala608Asp)
c.1055C>A (p.Ala352Asp)
n.1175C>A
c.1757C>A (p.Ala586Asp)
Xg.53405582C>ACA413253004SMC1Ac.1822G>T (p.Ala608Ser)
c.1054G>T (p.Ala352Ser)
n.1174G>T
c.1756G>T (p.Ala586Ser)
Xg.53405582C>GCA413253005SMC1Ac.1822G>C (p.Ala608Pro)
c.1054G>C (p.Ala352Pro)
n.1174G>C
c.1756G>C (p.Ala586Pro)
Xg.53405582C>TCA413253006SMC1Ac.1822G>A (p.Ala608Thr)
c.1054G>A (p.Ala352Thr)
n.1174G>A
c.1756G>A (p.Ala586Thr)
Xg.53405583C>ACA413253008SMC1Ac.1821G>T (p.Lys607Asn)
c.1053G>T (p.Lys351Asn)
n.1173G>T
c.1755G>T (p.Lys585Asn)
Xg.53405583C=CA2429825326SMC1Ac.1821G= (p.Lys607=)
c.1053G= (p.Lys351=)
n.1173G=
c.1755G= (p.Lys585=)
Xg.53405583C>GCA413253009SMC1Ac.1821G>C (p.Lys607Asn)
c.1053G>C (p.Lys351Asn)
n.1173G>C
c.1755G>C (p.Lys585Asn)
 dbSNP
Xg.53405583C>TCA516688198SMC1Ac.1821G>A (p.Lys607=)
c.1053G>A (p.Lys351=)
n.1173G>A
c.1755G>A (p.Lys585=)
Xg.53405584T>ACA413253014SMC1Ac.1820A>T (p.Lys607Met)
c.1052A>T (p.Lys351Met)
n.1172A>T
c.1754A>T (p.Lys585Met)
Xg.53405584T>CCA413253012SMC1Ac.1820A>G (p.Lys607Arg)
c.1052A>G (p.Lys351Arg)
n.1172A>G
c.1754A>G (p.Lys585Arg)
Xg.53405584T>GCA413253011SMC1Ac.1820A>C (p.Lys607Thr)
c.1052A>C (p.Lys351Thr)
n.1172A>C
c.1754A>C (p.Lys585Thr)
Xg.53405585T>ACA413253015SMC1Ac.1819A>T (p.Lys607Ter)
c.1051A>T (p.Lys351Ter)
n.1171A>T
c.1753A>T (p.Lys585Ter)

Number of alleles fetched