Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53409117T>ACA413255455SMC1Ac.1490A>T (p.Gln497Leu)
c.722A>T (p.Gln241Leu)
n.842A>T
c.1424A>T (p.Gln475Leu)
Xg.53409117T>CCA413255456SMC1Ac.1490A>G (p.Gln497Arg)
c.722A>G (p.Gln241Arg)
n.842A>G
c.1424A>G (p.Gln475Arg)
 ClinVar
Xg.53409117T>GCA413255457SMC1Ac.1490A>C (p.Gln497Pro)
c.722A>C (p.Gln241Pro)
n.842A>C
c.1424A>C (p.Gln475Pro)
Xg.53409118G>ACA413255458SMC1Ac.1489C>T (p.Gln497Ter)
c.721C>T (p.Gln241Ter)
n.841C>T
c.1423C>T (p.Gln475Ter)
Xg.53409118G>CCA413255459SMC1Ac.1489C>G (p.Gln497Glu)
c.721C>G (p.Gln241Glu)
n.841C>G
c.1423C>G (p.Gln475Glu)
Xg.53409118G>TCA413255460SMC1Ac.1489C>A (p.Gln497Lys)
c.721C>A (p.Gln241Lys)
n.841C>A
c.1423C>A (p.Gln475Lys)
Xg.53409119G>ACA516561593SMC1Ac.1488C>T (p.Arg496=)
c.720C>T (p.Arg240=)
n.840C>T
c.1422C>T (p.Arg474=)
Xg.53409119G>CCA516561585SMC1Ac.1488C>G (p.Arg496=)
c.720C>G (p.Arg240=)
n.840C>G
c.1422C>G (p.Arg474=)
Xg.53409119G>TCA516561588SMC1Ac.1488C>A (p.Arg496=)
c.720C>A (p.Arg240=)
n.840C>A
c.1422C>A (p.Arg474=)
 ClinVar
Xg.53409120C>ACA413255461SMC1Ac.1487G>T (p.Arg496Leu)
c.719G>T (p.Arg240Leu)
n.839G>T
c.1421G>T (p.Arg474Leu)
Xg.53409120C=CA2429826528SMC1Ac.1487G= (p.Arg496=)
c.719G= (p.Arg240=)
n.839G=
c.1421G= (p.Arg474=)
Xg.53409120C>GCA413255462SMC1Ac.1487G>C (p.Arg496Pro)
c.719G>C (p.Arg240Pro)
n.839G>C
c.1421G>C (p.Arg474Pro)
Xg.53409120C>TCA255969SMC1Ac.1487G>A (p.Arg496His)
c.719G>A (p.Arg240His)
n.839G>A
c.1421G>A (p.Arg474His)
 ClinVar dbSNP
Xg.53409121G>ACA413255464SMC1Ac.1486C>T (p.Arg496Cys)
c.718C>T (p.Arg240Cys)
n.838C>T
c.1420C>T (p.Arg474Cys)
 ClinVar dbSNP COSMIC
Xg.53409121G>CCA413255465SMC1Ac.1486C>G (p.Arg496Gly)
c.718C>G (p.Arg240Gly)
n.838C>G
c.1420C>G (p.Arg474Gly)
Xg.53409121G=CA2429826535SMC1Ac.1486C= (p.Arg496=)
c.718C= (p.Arg240=)
n.838C=
c.1420C= (p.Arg474=)
Xg.53409121G>TCA413255463SMC1Ac.1486C>A (p.Arg496Ser)
c.718C>A (p.Arg240Ser)
n.838C>A
c.1420C>A (p.Arg474Ser)
Xg.53409122G>ACA516561626SMC1Ac.1485C>T (p.Ser495=)
c.717C>T (p.Ser239=)
n.837C>T
c.1419C>T (p.Ser473=)
Xg.53409122G>CCA413255466SMC1Ac.1485C>G (p.Ser495Arg)
c.717C>G (p.Ser239Arg)
n.837C>G
c.1419C>G (p.Ser473Arg)
Xg.53409122G>TCA413255467SMC1Ac.1485C>A (p.Ser495Arg)
c.717C>A (p.Ser239Arg)
n.837C>A
c.1419C>A (p.Ser473Arg)
Xg.53409123C>ACA413255468SMC1Ac.1484G>T (p.Ser495Ile)
c.716G>T (p.Ser239Ile)
n.836G>T
c.1418G>T (p.Ser473Ile)
Xg.53409123C>GCA413255469SMC1Ac.1484G>C (p.Ser495Thr)
c.716G>C (p.Ser239Thr)
n.836G>C
c.1418G>C (p.Ser473Thr)
Xg.53409123C>TCA413255470SMC1Ac.1484G>A (p.Ser495Asn)
c.716G>A (p.Ser239Asn)
n.836G>A
c.1418G>A (p.Ser473Asn)
Xg.53409124T>ACA413255471SMC1Ac.1483A>T (p.Ser495Cys)
c.715A>T (p.Ser239Cys)
n.835A>T
c.1417A>T (p.Ser473Cys)
Xg.53409124T>CCA413255472SMC1Ac.1483A>G (p.Ser495Gly)
c.715A>G (p.Ser239Gly)
n.835A>G
c.1417A>G (p.Ser473Gly)
Xg.53409124T>GCA413255473SMC1Ac.1483A>C (p.Ser495Arg)
c.715A>C (p.Ser239Arg)
n.835A>C
c.1417A>C (p.Ser473Arg)
Xg.53409125G>ACA516561655SMC1Ac.1482C>T (p.Ser494=)
c.714C>T (p.Ser238=)
n.834C>T
c.1416C>T (p.Ser472=)
Xg.53409125G>CCA413255474SMC1Ac.1482C>G (p.Ser494Arg)
c.714C>G (p.Ser238Arg)
n.834C>G
c.1416C>G (p.Ser472Arg)
Xg.53409125G>TCA413255475SMC1Ac.1482C>A (p.Ser494Arg)
c.714C>A (p.Ser238Arg)
n.834C>A
c.1416C>A (p.Ser472Arg)
Xg.53409126C>ACA413255476SMC1Ac.1481G>T (p.Ser494Ile)
c.713G>T (p.Ser238Ile)
n.833G>T
c.1415G>T (p.Ser472Ile)
Xg.53409126C>GCA413255477SMC1Ac.1481G>C (p.Ser494Thr)
c.713G>C (p.Ser238Thr)
n.833G>C
c.1415G>C (p.Ser472Thr)
Xg.53409126C>TCA413255478SMC1Ac.1481G>A (p.Ser494Asn)
c.713G>A (p.Ser238Asn)
n.833G>A
c.1415G>A (p.Ser472Asn)
Xg.53409127T>ACA413255479SMC1Ac.1480A>T (p.Ser494Cys)
c.712A>T (p.Ser238Cys)
n.832A>T
c.1414A>T (p.Ser472Cys)
Xg.53409127T>CCA413255481SMC1Ac.1480A>G (p.Ser494Gly)
c.712A>G (p.Ser238Gly)
n.832A>G
c.1414A>G (p.Ser472Gly)
Xg.53409127T>GCA413255480SMC1Ac.1480A>C (p.Ser494Arg)
c.712A>C (p.Ser238Arg)
n.832A>C
c.1414A>C (p.Ser472Arg)
Xg.53409128C>ACA413255482SMC1Ac.1479G>T (p.Glu493Asp)
c.711G>T (p.Glu237Asp)
n.831G>T
c.1413G>T (p.Glu471Asp)
Xg.53409128C=CA2429826542SMC1Ac.1479G= (p.Glu493=)
c.711G= (p.Glu237=)
n.831G=
c.1413G= (p.Glu471=)
Xg.53409128C>GCA413255483SMC1Ac.1479G>C (p.Glu493Asp)
c.711G>C (p.Glu237Asp)
n.831G>C
c.1413G>C (p.Glu471Asp)
Xg.53409128C>TCA10420552SMC1Ac.1479G>A (p.Glu493=)
c.711G>A (p.Glu237=)
n.831G>A
c.1413G>A (p.Glu471=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409129T>ACA413255484SMC1Ac.1478A>T (p.Glu493Val)
c.710A>T (p.Glu237Val)
n.830A>T
c.1412A>T (p.Glu471Val)
Xg.53409129T>CCA413255485SMC1Ac.1478A>G (p.Glu493Gly)
c.710A>G (p.Glu237Gly)
n.830A>G
c.1412A>G (p.Glu471Gly)
Xg.53409129T>GCA255965SMC1Ac.1478A>C (p.Glu493Ala)
c.710A>C (p.Glu237Ala)
n.830A>C
c.1412A>C (p.Glu471Ala)
 ClinVar dbSNP
Xg.53409129T=CA2429826546SMC1Ac.1478A= (p.Glu493=)
c.710A= (p.Glu237=)
n.830A=
c.1412A= (p.Glu471=)
Xg.53409130C>ACA413255486SMC1Ac.1477G>T (p.Glu493Ter)
c.709G>T (p.Glu237Ter)
n.829G>T
c.1411G>T (p.Glu471Ter)
Xg.53409130C>GCA413255487SMC1Ac.1477G>C (p.Glu493Gln)
c.709G>C (p.Glu237Gln)
n.829G>C
c.1411G>C (p.Glu471Gln)
Xg.53409130C>TCA413255488SMC1Ac.1477G>A (p.Glu493Lys)
c.709G>A (p.Glu237Lys)
n.829G>A
c.1411G>A (p.Glu471Lys)
 COSMIC
Xg.53409131C>ACA413255489SMC1Ac.1476G>T (p.Gln492His)
c.708G>T (p.Gln236His)
n.828G>T
c.1410G>T (p.Gln470His)
Xg.53409131C>GCA413255490SMC1Ac.1476G>C (p.Gln492His)
c.708G>C (p.Gln236His)
n.828G>C
c.1410G>C (p.Gln470His)
Xg.53409131C>TCA516561677SMC1Ac.1476G>A (p.Gln492=)
c.708G>A (p.Gln236=)
n.828G>A
c.1410G>A (p.Gln470=)
Xg.53409132T>ACA413255492SMC1Ac.1475A>T (p.Gln492Leu)
c.707A>T (p.Gln236Leu)
n.827A>T
c.1409A>T (p.Gln470Leu)
Xg.53409132T>CCA413255493SMC1Ac.1475A>G (p.Gln492Arg)
c.707A>G (p.Gln236Arg)
n.827A>G
c.1409A>G (p.Gln470Arg)
 ClinVar dbSNP
Xg.53409132T>GCA413255491SMC1Ac.1475A>C (p.Gln492Pro)
c.707A>C (p.Gln236Pro)
n.827A>C
c.1409A>C (p.Gln470Pro)
Xg.53409132T=CA2429826554SMC1Ac.1475A= (p.Gln492=)
c.707A= (p.Gln236=)
n.827A=
c.1409A= (p.Gln470=)
Xg.53409133G>ACA413255494SMC1Ac.1474C>T (p.Gln492Ter)
c.706C>T (p.Gln236Ter)
n.826C>T
c.1408C>T (p.Gln470Ter)
Xg.53409133G>CCA413255495SMC1Ac.1474C>G (p.Gln492Glu)
c.706C>G (p.Gln236Glu)
n.826C>G
c.1408C>G (p.Gln470Glu)
Xg.53409133G>TCA413255496SMC1Ac.1474C>A (p.Gln492Lys)
c.706C>A (p.Gln236Lys)
n.826C>A
c.1408C>A (p.Gln470Lys)
Xg.53409134G>ACA516561687SMC1Ac.1473C>T (p.Arg491=)
c.705C>T (p.Arg235=)
n.825C>T
c.1407C>T (p.Arg469=)
Xg.53409134G>CCA516561688SMC1Ac.1473C>G (p.Arg491=)
c.705C>G (p.Arg235=)
n.825C>G
c.1407C>G (p.Arg469=)
Xg.53409134G>TCA516561691SMC1Ac.1473C>A (p.Arg491=)
c.705C>A (p.Arg235=)
n.825C>A
c.1407C>A (p.Arg469=)
Xg.53409135C>ACA413255497SMC1Ac.1472G>T (p.Arg491Leu)
c.704G>T (p.Arg235Leu)
n.824G>T
c.1406G>T (p.Arg469Leu)
Xg.53409135C=CA2429826557SMC1Ac.1472G= (p.Arg491=)
c.704G= (p.Arg235=)
n.824G=
c.1406G= (p.Arg469=)
Xg.53409135C>GCA413255498SMC1Ac.1472G>C (p.Arg491Pro)
c.704G>C (p.Arg235Pro)
n.824G>C
c.1406G>C (p.Arg469Pro)
Xg.53409135C>TCA413255499SMC1Ac.1472G>A (p.Arg491His)
c.704G>A (p.Arg235His)
n.824G>A
c.1406G>A (p.Arg469His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.53409136G>ACA413255502SMC1Ac.1471C>T (p.Arg491Cys)
c.703C>T (p.Arg235Cys)
n.823C>T
c.1405C>T (p.Arg469Cys)
 gnomAD v4
Xg.53409136G>CCA413255500SMC1Ac.1471C>G (p.Arg491Gly)
c.703C>G (p.Arg235Gly)
n.823C>G
c.1405C>G (p.Arg469Gly)
Xg.53409136G>TCA413255501SMC1Ac.1471C>A (p.Arg491Ser)
c.703C>A (p.Arg235Ser)
n.823C>A
c.1405C>A (p.Arg469Ser)
Xg.53409137G>ACA516561706SMC1Ac.1470C>T (p.Asp490=)
c.702C>T (p.Asp234=)
n.822C>T
c.1404C>T (p.Asp468=)
Xg.53409137G>CCA413255503SMC1Ac.1470C>G (p.Asp490Glu)
c.702C>G (p.Asp234Glu)
n.822C>G
c.1404C>G (p.Asp468Glu)
Xg.53409137G>TCA413255504SMC1Ac.1470C>A (p.Asp490Glu)
c.702C>A (p.Asp234Glu)
n.822C>A
c.1404C>A (p.Asp468Glu)
 gnomAD v4
Xg.53409138T>ACA413255505SMC1Ac.1469A>T (p.Asp490Val)
c.701A>T (p.Asp234Val)
n.821A>T
c.1403A>T (p.Asp468Val)
Xg.53409138T>CCA413255506SMC1Ac.1469A>G (p.Asp490Gly)
c.701A>G (p.Asp234Gly)
n.821A>G
c.1403A>G (p.Asp468Gly)
Xg.53409138T>GCA413255507SMC1Ac.1469A>C (p.Asp490Ala)
c.701A>C (p.Asp234Ala)
n.821A>C
c.1403A>C (p.Asp468Ala)
Xg.53409139C>ACA413255510SMC1Ac.1468G>T (p.Asp490Tyr)
c.700G>T (p.Asp234Tyr)
n.820G>T
c.1402G>T (p.Asp468Tyr)
Xg.53409139C>GCA413255508SMC1Ac.1468G>C (p.Asp490His)
c.700G>C (p.Asp234His)
n.820G>C
c.1402G>C (p.Asp468His)
Xg.53409139C>TCA413255509SMC1Ac.1468G>A (p.Asp490Asn)
c.700G>A (p.Asp234Asn)
n.820G>A
c.1402G>A (p.Asp468Asn)
Xg.53409140G>ACA10420553SMC1Ac.1467C>T (p.Ile489=)
c.699C>T (p.Ile233=)
n.819C>T
c.1401C>T (p.Ile467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409140G>CCA413255511SMC1Ac.1467C>G (p.Ile489Met)
c.699C>G (p.Ile233Met)
n.819C>G
c.1401C>G (p.Ile467Met)
Xg.53409140G=CA2429826559SMC1Ac.1467C= (p.Ile489=)
c.699C= (p.Ile233=)
n.819C=
c.1401C= (p.Ile467=)
Xg.53409140G>TCA516561731SMC1Ac.1467C>A (p.Ile489=)
c.699C>A (p.Ile233=)
n.819C>A
c.1401C>A (p.Ile467=)
Xg.53409141A>CCA413255512SMC1Ac.1466T>G (p.Ile489Ser)
c.698T>G (p.Ile233Ser)
n.818T>G
c.1400T>G (p.Ile467Ser)
Xg.53409141A>GCA413255513SMC1Ac.1466T>C (p.Ile489Thr)
c.698T>C (p.Ile233Thr)
n.818T>C
c.1400T>C (p.Ile467Thr)
Xg.53409141A>TCA413255514SMC1Ac.1466T>A (p.Ile489Asn)
c.698T>A (p.Ile233Asn)
n.818T>A
c.1400T>A (p.Ile467Asn)
Xg.53409142T>ACA413255517SMC1Ac.1465A>T (p.Ile489Phe)
c.697A>T (p.Ile233Phe)
n.817A>T
c.1399A>T (p.Ile467Phe)
Xg.53409142T>CCA413255516SMC1Ac.1465A>G (p.Ile489Val)
c.697A>G (p.Ile233Val)
n.817A>G
c.1399A>G (p.Ile467Val)
 dbSNP
Xg.53409142T>GCA413255515SMC1Ac.1465A>C (p.Ile489Leu)
c.697A>C (p.Ile233Leu)
n.817A>C
c.1399A>C (p.Ile467Leu)
Xg.53409142T=CA2429826562SMC1Ac.1465A= (p.Ile489=)
c.697A= (p.Ile233=)
n.817A=
c.1399A= (p.Ile467=)
Xg.53409143G>ACA516561746SMC1Ac.1464C>T (p.Arg488=)
c.696C>T (p.Arg232=)
n.816C>T
c.1398C>T (p.Arg466=)
Xg.53409143G>CCA516561748SMC1Ac.1464C>G (p.Arg488=)
c.696C>G (p.Arg232=)
n.816C>G
c.1398C>G (p.Arg466=)
Xg.53409143G>TCA516561751SMC1Ac.1464C>A (p.Arg488=)
c.696C>A (p.Arg232=)
n.816C>A
c.1398C>A (p.Arg466=)
Xg.53409144C>ACA413255518SMC1Ac.1463G>T (p.Arg488Leu)
c.695G>T (p.Arg232Leu)
n.815G>T
c.1397G>T (p.Arg466Leu)
Xg.53409144C>GCA413255519SMC1Ac.1463G>C (p.Arg488Pro)
c.695G>C (p.Arg232Pro)
n.815G>C
c.1397G>C (p.Arg466Pro)
Xg.53409144C>TCA413255520SMC1Ac.1463G>A (p.Arg488His)
c.695G>A (p.Arg232His)
n.815G>A
c.1397G>A (p.Arg466His)
 COSMIC
Xg.53409145G>ACA413255521SMC1Ac.1462C>T (p.Arg488Cys)
c.694C>T (p.Arg232Cys)
n.814C>T
c.1396C>T (p.Arg466Cys)
 gnomAD v4
Xg.53409145G>CCA413255522SMC1Ac.1462C>G (p.Arg488Gly)
c.694C>G (p.Arg232Gly)
n.814C>G
c.1396C>G (p.Arg466Gly)
Xg.53409145G>TCA413255523SMC1Ac.1462C>A (p.Arg488Ser)
c.694C>A (p.Arg232Ser)
n.814C>A
c.1396C>A (p.Arg466Ser)
Xg.53409146G>ACA516561769SMC1Ac.1461C>T (p.Ala487=)
c.693C>T (p.Ala231=)
n.813C>T
c.1395C>T (p.Ala465=)
 COSMIC
Xg.53409146G>CCA516561767SMC1Ac.1461C>G (p.Ala487=)
c.693C>G (p.Ala231=)
n.813C>G
c.1395C>G (p.Ala465=)
Xg.53409146G>TCA516561764SMC1Ac.1461C>A (p.Ala487=)
c.693C>A (p.Ala231=)
n.813C>A
c.1395C>A (p.Ala465=)
Xg.53409147G>ACA413255524SMC1Ac.1460C>T (p.Ala487Val)
c.692C>T (p.Ala231Val)
n.812C>T
c.1394C>T (p.Ala465Val)
Xg.53409147G>CCA413255526SMC1Ac.1460C>G (p.Ala487Gly)
c.692C>G (p.Ala231Gly)
n.812C>G
c.1394C>G (p.Ala465Gly)
Xg.53409147G>TCA413255525SMC1Ac.1460C>A (p.Ala487Asp)
c.692C>A (p.Ala231Asp)
n.812C>A
c.1394C>A (p.Ala465Asp)
Xg.53409148C>ACA413255527SMC1Ac.1459G>T (p.Ala487Ser)
c.691G>T (p.Ala231Ser)
n.811G>T
c.1393G>T (p.Ala465Ser)
Xg.53409148C>GCA413255528SMC1Ac.1459G>C (p.Ala487Pro)
c.691G>C (p.Ala231Pro)
n.811G>C
c.1393G>C (p.Ala465Pro)
Xg.53409148C>TCA413255529SMC1Ac.1459G>A (p.Ala487Thr)
c.691G>A (p.Ala231Thr)
n.811G>A
c.1393G>A (p.Ala465Thr)
Xg.53409149A>CCA413255530SMC1Ac.1458T>G (p.Asp486Glu)
c.690T>G (p.Asp230Glu)
n.810T>G
c.1392T>G (p.Asp464Glu)
Xg.53409149A>GCA516561797SMC1Ac.1458T>C (p.Asp486=)
c.690T>C (p.Asp230=)
n.810T>C
c.1392T>C (p.Asp464=)
Xg.53409149A>TCA413255531SMC1Ac.1458T>A (p.Asp486Glu)
c.690T>A (p.Asp230Glu)
n.810T>A
c.1392T>A (p.Asp464Glu)
Xg.53409150T>ACA413255533SMC1Ac.1457A>T (p.Asp486Val)
c.689A>T (p.Asp230Val)
n.809A>T
c.1391A>T (p.Asp464Val)
Xg.53409150T>CCA272515SMC1Ac.1457A>G (p.Asp486Gly)
c.689A>G (p.Asp230Gly)
n.809A>G
c.1391A>G (p.Asp464Gly)
 ClinVar dbSNP
Xg.53409150T>GCA413255532SMC1Ac.1457A>C (p.Asp486Ala)
c.689A>C (p.Asp230Ala)
n.809A>C
c.1391A>C (p.Asp464Ala)
Xg.53409150T=CA2429826567SMC1Ac.1457A= (p.Asp486=)
c.689A= (p.Asp230=)
n.809A=
c.1391A= (p.Asp464=)
Xg.53409151C>ACA413255534SMC1Ac.1456G>T (p.Asp486Tyr)
c.688G>T (p.Asp230Tyr)
n.808G>T
c.1390G>T (p.Asp464Tyr)
Xg.53409151C>GCA413255535SMC1Ac.1456G>C (p.Asp486His)
c.688G>C (p.Asp230His)
n.808G>C
c.1390G>C (p.Asp464His)
Xg.53409151C>TCA413255536SMC1Ac.1456G>A (p.Asp486Asn)
c.688G>A (p.Asp230Asn)
n.808G>A
c.1390G>A (p.Asp464Asn)
Xg.53409152C>ACA516561814SMC1Ac.1455G>T (p.Gly485=)
c.687G>T (p.Gly229=)
n.807G>T
c.1389G>T (p.Gly463=)
Xg.53409152C>GCA516561818SMC1Ac.1455G>C (p.Gly485=)
c.687G>C (p.Gly229=)
n.807G>C
c.1389G>C (p.Gly463=)
Xg.53409152C>TCA516561815SMC1Ac.1455G>A (p.Gly485=)
c.687G>A (p.Gly229=)
n.807G>A
c.1389G>A (p.Gly463=)
Xg.53409153C>ACA413255537SMC1Ac.1454G>T (p.Gly485Val)
c.686G>T (p.Gly229Val)
n.806G>T
c.1388G>T (p.Gly463Val)
Xg.53409153C>GCA413255538SMC1Ac.1454G>C (p.Gly485Ala)
c.686G>C (p.Gly229Ala)
n.806G>C
c.1388G>C (p.Gly463Ala)
Xg.53409153C>TCA413255539SMC1Ac.1454G>A (p.Gly485Glu)
c.686G>A (p.Gly229Glu)
n.806G>A
c.1388G>A (p.Gly463Glu)
Xg.53409154C>ACA413255540SMC1Ac.1453G>T (p.Gly485Trp)
c.685G>T (p.Gly229Trp)
n.805G>T
c.1387G>T (p.Gly463Trp)
Xg.53409154C>GCA413255542SMC1Ac.1453G>C (p.Gly485Arg)
c.685G>C (p.Gly229Arg)
n.805G>C
c.1387G>C (p.Gly463Arg)
Xg.53409154C>TCA413255541SMC1Ac.1453G>A (p.Gly485Arg)
c.685G>A (p.Gly229Arg)
n.805G>A
c.1387G>A (p.Gly463Arg)
Xg.53409155T>ACA516561849SMC1Ac.1452A>T (p.Leu484=)
c.684A>T (p.Leu228=)
n.804A>T
c.1386A>T (p.Leu462=)
Xg.53409155T>CCA10420554SMC1Ac.1452A>G (p.Leu484=)
c.684A>G (p.Leu228=)
n.804A>G
c.1386A>G (p.Leu462=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409155T>GCA516561854SMC1Ac.1452A>C (p.Leu484=)
c.684A>C (p.Leu228=)
n.804A>C
c.1386A>C (p.Leu462=)
Xg.53409155T=CA2429826571SMC1Ac.1452A= (p.Leu484=)
c.684A= (p.Leu228=)
n.804A=
c.1386A= (p.Leu462=)
Xg.53409156A>CCA413255543SMC1Ac.1451T>G (p.Leu484Arg)
c.683T>G (p.Leu228Arg)
n.803T>G
c.1385T>G (p.Leu462Arg)
Xg.53409156A>GCA413255544SMC1Ac.1451T>C (p.Leu484Pro)
c.683T>C (p.Leu228Pro)
n.803T>C
c.1385T>C (p.Leu462Pro)
Xg.53409156A>TCA413255545SMC1Ac.1451T>A (p.Leu484Gln)
c.683T>A (p.Leu228Gln)
n.803T>A
c.1385T>A (p.Leu462Gln)
Xg.53409157G>ACA516561864SMC1Ac.1450C>T (p.Leu484=)
c.682C>T (p.Leu228=)
n.802C>T
c.1384C>T (p.Leu462=)
Xg.53409157G>CCA413255546SMC1Ac.1450C>G (p.Leu484Val)
c.682C>G (p.Leu228Val)
n.802C>G
c.1384C>G (p.Leu462Val)
Xg.53409157G>TCA413255547SMC1Ac.1450C>A (p.Leu484Ile)
c.682C>A (p.Leu228Ile)
n.802C>A
c.1384C>A (p.Leu462Ile)
Xg.53409158C>ACA413255548SMC1Ac.1449G>T (p.Gln483His)
c.681G>T (p.Gln227His)
n.801G>T
c.1383G>T (p.Gln461His)
Xg.53409158C>GCA413255549SMC1Ac.1449G>C (p.Gln483His)
c.681G>C (p.Gln227His)
n.801G>C
c.1383G>C (p.Gln461His)
Xg.53409158C>TCA516561869SMC1Ac.1449G>A (p.Gln483=)
c.681G>A (p.Gln227=)
n.801G>A
c.1383G>A (p.Gln461=)
Xg.53409159T>ACA413255550SMC1Ac.1448A>T (p.Gln483Leu)
c.680A>T (p.Gln227Leu)
n.800A>T
c.1382A>T (p.Gln461Leu)
Xg.53409159T>CCA413255551SMC1Ac.1448A>G (p.Gln483Arg)
c.680A>G (p.Gln227Arg)
n.800A>G
c.1382A>G (p.Gln461Arg)
Xg.53409159T>GCA413255552SMC1Ac.1448A>C (p.Gln483Pro)
c.680A>C (p.Gln227Pro)
n.800A>C
c.1382A>C (p.Gln461Pro)
Xg.53409160delCA2739273512SMC1Ac.1447del (p.Gln483SerfsTer2)
c.679del (p.Gln227SerfsTer2)
n.799del
c.1381del (p.Gln461SerfsTer2)
 ClinVar
Xg.53409160G>ACA413255553SMC1Ac.1447C>T (p.Gln483Ter)
c.679C>T (p.Gln227Ter)
n.799C>T
c.1381C>T (p.Gln461Ter)
Xg.53409160G>CCA413255555SMC1Ac.1447C>G (p.Gln483Glu)
c.679C>G (p.Gln227Glu)
n.799C>G
c.1381C>G (p.Gln461Glu)
Xg.53409160G>TCA413255554SMC1Ac.1447C>A (p.Gln483Lys)
c.679C>A (p.Gln227Lys)
n.799C>A
c.1381C>A (p.Gln461Lys)
 gnomAD v4
Xg.53409161C>ACA413255556SMC1Ac.1446G>T (p.Glu482Asp)
c.678G>T (p.Glu226Asp)
n.798G>T
c.1380G>T (p.Glu460Asp)
Xg.53409161C>GCA413255557SMC1Ac.1446G>C (p.Glu482Asp)
c.678G>C (p.Glu226Asp)
n.798G>C
c.1380G>C (p.Glu460Asp)
Xg.53409161C>TCA516561884SMC1Ac.1446G>A (p.Glu482=)
c.678G>A (p.Glu226=)
n.798G>A
c.1380G>A (p.Glu460=)
Xg.53409162T>ACA413255558SMC1Ac.1445A>T (p.Glu482Val)
c.677A>T (p.Glu226Val)
n.797A>T
c.1379A>T (p.Glu460Val)
Xg.53409162T>CCA413255559SMC1Ac.1445A>G (p.Glu482Gly)
c.677A>G (p.Glu226Gly)
n.797A>G
c.1379A>G (p.Glu460Gly)
Xg.53409162T>GCA413255560SMC1Ac.1445A>C (p.Glu482Ala)
c.677A>C (p.Glu226Ala)
n.797A>C
c.1379A>C (p.Glu460Ala)
Xg.53409163C>ACA413255561SMC1Ac.1444G>T (p.Glu482Ter)
c.676G>T (p.Glu226Ter)
n.796G>T
c.1378G>T (p.Glu460Ter)
 COSMIC
Xg.53409163C>GCA413255562SMC1Ac.1444G>C (p.Glu482Gln)
c.676G>C (p.Glu226Gln)
n.796G>C
c.1378G>C (p.Glu460Gln)
Xg.53409163C>TCA413255563SMC1Ac.1444G>A (p.Glu482Lys)
c.676G>A (p.Glu226Lys)
n.796G>A
c.1378G>A (p.Glu460Lys)
Xg.53409164C>ACA413255564SMC1Ac.1443G>T (p.Met481Ile)
c.675G>T (p.Met225Ile)
n.795G>T
c.1377G>T (p.Met459Ile)
Xg.53409164C>GCA413255565SMC1Ac.1443G>C (p.Met481Ile)
c.675G>C (p.Met225Ile)
n.795G>C
c.1377G>C (p.Met459Ile)
Xg.53409164C>TCA413255566SMC1Ac.1443G>A (p.Met481Ile)
c.675G>A (p.Met225Ile)
n.795G>A
c.1377G>A (p.Met459Ile)
Xg.53409165A>CCA413255567SMC1Ac.1442T>G (p.Met481Arg)
c.674T>G (p.Met225Arg)
n.794T>G
c.1376T>G (p.Met459Arg)
Xg.53409165A>GCA413255568SMC1Ac.1442T>C (p.Met481Thr)
c.674T>C (p.Met225Thr)
n.794T>C
c.1376T>C (p.Met459Thr)
Xg.53409165A>TCA413255569SMC1Ac.1442T>A (p.Met481Lys)
c.674T>A (p.Met225Lys)
n.794T>A
c.1376T>A (p.Met459Lys)
Xg.53409166T>ACA413255572SMC1Ac.1441A>T (p.Met481Leu)
c.673A>T (p.Met225Leu)
n.793A>T
c.1375A>T (p.Met459Leu)
Xg.53409166T>CCA413255570SMC1Ac.1441A>G (p.Met481Val)
c.673A>G (p.Met225Val)
n.793A>G
c.1375A>G (p.Met459Val)
Xg.53409166T>GCA413255571SMC1Ac.1441A>C (p.Met481Leu)
c.673A>C (p.Met225Leu)
n.793A>C
c.1375A>C (p.Met459Leu)
Xg.53409167C>ACA516561903SMC1Ac.1440G>T (p.Val480=)
c.672G>T (p.Val224=)
n.792G>T
c.1374G>T (p.Val458=)
Xg.53409167C>GCA516561900SMC1Ac.1440G>C (p.Val480=)
c.672G>C (p.Val224=)
n.792G>C
c.1374G>C (p.Val458=)
Xg.53409167C>TCA516561901SMC1Ac.1440G>A (p.Val480=)
c.672G>A (p.Val224=)
n.792G>A
c.1374G>A (p.Val458=)
Xg.53409168A>CCA413255573SMC1Ac.1439T>G (p.Val480Gly)
c.671T>G (p.Val224Gly)
n.791T>G
c.1373T>G (p.Val458Gly)
Xg.53409168A>GCA413255574SMC1Ac.1439T>C (p.Val480Ala)
c.671T>C (p.Val224Ala)
n.791T>C
c.1373T>C (p.Val458Ala)
Xg.53409168A>TCA413255575SMC1Ac.1439T>A (p.Val480Glu)
c.671T>A (p.Val224Glu)
n.791T>A
c.1373T>A (p.Val458Glu)
Xg.53409169C>ACA413255576SMC1Ac.1438G>T (p.Val480Leu)
c.670G>T (p.Val224Leu)
n.790G>T
c.1372G>T (p.Val458Leu)
Xg.53409169C>GCA413255577SMC1Ac.1438G>C (p.Val480Leu)
c.670G>C (p.Val224Leu)
n.790G>C
c.1372G>C (p.Val458Leu)
Xg.53409169C>TCA413255578SMC1Ac.1438G>A (p.Val480Met)
c.670G>A (p.Val224Met)
n.790G>A
c.1372G>A (p.Val458Met)
Xg.53409170C>ACA413255579SMC1Ac.1437G>T (p.Gln479His)
c.669G>T (p.Gln223His)
n.789G>T
c.1371G>T (p.Gln457His)
Xg.53409170C=CA2429826575SMC1Ac.1437G= (p.Gln479=)
c.669G= (p.Gln223=)
n.789G=
c.1371G= (p.Gln457=)
Xg.53409170C>GCA413255580SMC1Ac.1437G>C (p.Gln479His)
c.669G>C (p.Gln223His)
n.789G>C
c.1371G>C (p.Gln457His)
Xg.53409170C>TCA516561912SMC1Ac.1437G>A (p.Gln479=)
c.669G>A (p.Gln223=)
n.789G>A
c.1371G>A (p.Gln457=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53409171T>ACA413255581SMC1Ac.1436A>T (p.Gln479Leu)
c.668A>T (p.Gln223Leu)
n.788A>T
c.1370A>T (p.Gln457Leu)
Xg.53409171T>CCA413255582SMC1Ac.1436A>G (p.Gln479Arg)
c.668A>G (p.Gln223Arg)
n.788A>G
c.1370A>G (p.Gln457Arg)
Xg.53409171T>GCA413255583SMC1Ac.1436A>C (p.Gln479Pro)
c.668A>C (p.Gln223Pro)
n.788A>C
c.1370A>C (p.Gln457Pro)
 ClinVar dbSNP
Xg.53409171T=CA2429826578SMC1Ac.1436A= (p.Gln479=)
c.668A= (p.Gln223=)
n.788A=
c.1370A= (p.Gln457=)
Xg.53409172G>ACA413255585SMC1Ac.1435C>T (p.Gln479Ter)
c.667C>T (p.Gln223Ter)
n.787C>T
c.1369C>T (p.Gln457Ter)
Xg.53409172G>CCA413255586SMC1Ac.1435C>G (p.Gln479Glu)
c.667C>G (p.Gln223Glu)
n.787C>G
c.1369C>G (p.Gln457Glu)
Xg.53409172G>TCA413255584SMC1Ac.1435C>A (p.Gln479Lys)
c.667C>A (p.Gln223Lys)
n.787C>A
c.1369C>A (p.Gln457Lys)
Xg.53409173G>ACA516561922SMC1Ac.1434C>T (p.Asn478=)
c.666C>T (p.Asn222=)
n.786C>T
c.1368C>T (p.Asn456=)
 COSMIC
Xg.53409173G>CCA413255587SMC1Ac.1434C>G (p.Asn478Lys)
c.666C>G (p.Asn222Lys)
n.786C>G
c.1368C>G (p.Asn456Lys)
Xg.53409173G>TCA413255588SMC1Ac.1434C>A (p.Asn478Lys)
c.666C>A (p.Asn222Lys)
n.786C>A
c.1368C>A (p.Asn456Lys)
Xg.53409174T>ACA413255589SMC1Ac.1433A>T (p.Asn478Ile)
c.665A>T (p.Asn222Ile)
n.785A>T
c.1367A>T (p.Asn456Ile)
Xg.53409174T>CCA413255590SMC1Ac.1433A>G (p.Asn478Ser)
c.665A>G (p.Asn222Ser)
n.785A>G
c.1367A>G (p.Asn456Ser)
Xg.53409174T>GCA413255591SMC1Ac.1433A>C (p.Asn478Thr)
c.665A>C (p.Asn222Thr)
n.785A>C
c.1367A>C (p.Asn456Thr)
Xg.53409175T>ACA413255592SMC1Ac.1432A>T (p.Asn478Tyr)
c.664A>T (p.Asn222Tyr)
n.784A>T
c.1366A>T (p.Asn456Tyr)
Xg.53409175T>CCA413255593SMC1Ac.1432A>G (p.Asn478Asp)
c.664A>G (p.Asn222Asp)
n.784A>G
c.1366A>G (p.Asn456Asp)
Xg.53409175T>GCA413255594SMC1Ac.1432A>C (p.Asn478His)
c.664A>C (p.Asn222His)
n.784A>C
c.1366A>C (p.Asn456His)
Xg.53409176C>ACA516561923SMC1Ac.1431G>T (p.Leu477=)
c.663G>T (p.Leu221=)
n.783G>T
c.1365G>T (p.Leu455=)
Xg.53409176C=CA2429826581SMC1Ac.1431G= (p.Leu477=)
c.663G= (p.Leu221=)
n.783G=
c.1365G= (p.Leu455=)
Xg.53409176C>GCA516561924SMC1Ac.1431G>C (p.Leu477=)
c.663G>C (p.Leu221=)
n.783G>C
c.1365G>C (p.Leu455=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409176C>TCA516561925SMC1Ac.1431G>A (p.Leu477=)
c.663G>A (p.Leu221=)
n.783G>A
c.1365G>A (p.Leu455=)
Xg.53409177A>CCA413255595SMC1Ac.1430T>G (p.Leu477Arg)
c.662T>G (p.Leu221Arg)
n.782T>G
c.1364T>G (p.Leu455Arg)
Xg.53409177A>GCA413255596SMC1Ac.1430T>C (p.Leu477Pro)
c.662T>C (p.Leu221Pro)
n.782T>C
c.1364T>C (p.Leu455Pro)
Xg.53409177A>TCA413255597SMC1Ac.1430T>A (p.Leu477Gln)
c.662T>A (p.Leu221Gln)
n.782T>A
c.1364T>A (p.Leu455Gln)
Xg.53409178G>ACA516561926SMC1Ac.1429C>T (p.Leu477=)
c.661C>T (p.Leu221=)
n.781C>T
c.1363C>T (p.Leu455=)
Xg.53409178G>CCA413255598SMC1Ac.1429C>G (p.Leu477Val)
c.661C>G (p.Leu221Val)
n.781C>G
c.1363C>G (p.Leu455Val)
Xg.53409178G>TCA413255599SMC1Ac.1429C>A (p.Leu477Met)
c.661C>A (p.Leu221Met)
n.781C>A
c.1363C>A (p.Leu455Met)
Xg.53409179C>ACA413255601SMC1Ac.1428G>T (p.Glu476Asp)
c.660G>T (p.Glu220Asp)
n.780G>T
c.1362G>T (p.Glu454Asp)
Xg.53409179C>GCA413255600SMC1Ac.1428G>C (p.Glu476Asp)
c.660G>C (p.Glu220Asp)
n.780G>C
c.1362G>C (p.Glu454Asp)
Xg.53409179C>TCA516561928SMC1Ac.1428G>A (p.Glu476=)
c.660G>A (p.Glu220=)
n.780G>A
c.1362G>A (p.Glu454=)
 ClinVar dbSNP gnomAD v4
Xg.53409180T>ACA413255602SMC1Ac.1427A>T (p.Glu476Val)
c.659A>T (p.Glu220Val)
n.779A>T
c.1361A>T (p.Glu454Val)
Xg.53409180T>CCA413255603SMC1Ac.1427A>G (p.Glu476Gly)
c.659A>G (p.Glu220Gly)
n.779A>G
c.1361A>G (p.Glu454Gly)
Xg.53409180T>GCA413255604SMC1Ac.1427A>C (p.Glu476Ala)
c.659A>C (p.Glu220Ala)
n.779A>C
c.1361A>C (p.Glu454Ala)
Xg.53409181C>ACA413255605SMC1Ac.1426G>T (p.Glu476Ter)
c.658G>T (p.Glu220Ter)
n.778G>T
c.1360G>T (p.Glu454Ter)
Xg.53409181C=CA2429826585SMC1Ac.1426G= (p.Glu476=)
c.658G= (p.Glu220=)
n.778G=
c.1360G= (p.Glu454=)
Xg.53409181C>GCA413255606SMC1Ac.1426G>C (p.Glu476Gln)
c.658G>C (p.Glu220Gln)
n.778G>C
c.1360G>C (p.Glu454Gln)
Xg.53409181C>TCA413255607SMC1Ac.1426G>A (p.Glu476Lys)
c.658G>A (p.Glu220Lys)
n.778G>A
c.1360G>A (p.Glu454Lys)
 dbSNP
Xg.53409182C>ACA413255608SMC1Ac.1425G>T (p.Lys475Asn)
c.657G>T (p.Lys219Asn)
n.777G>T
c.1359G>T (p.Lys453Asn)
Xg.53409182C=CA2429826586SMC1Ac.1425G= (p.Lys475=)
c.657G= (p.Lys219=)
n.777G=
c.1359G= (p.Lys453=)
Xg.53409182C>GCA413255609SMC1Ac.1425G>C (p.Lys475Asn)
c.657G>C (p.Lys219Asn)
n.777G>C
c.1359G>C (p.Lys453Asn)
Xg.53409182C>TCA516561933SMC1Ac.1425G>A (p.Lys475=)
c.657G>A (p.Lys219=)
n.777G>A
c.1359G>A (p.Lys453=)
 ClinVar dbSNP gnomAD v4
Xg.53409183T>ACA413255610SMC1Ac.1424A>T (p.Lys475Met)
c.656A>T (p.Lys219Met)
n.776A>T
c.1358A>T (p.Lys453Met)
Xg.53409183T>CCA413255611SMC1Ac.1424A>G (p.Lys475Arg)
c.656A>G (p.Lys219Arg)
n.776A>G
c.1358A>G (p.Lys453Arg)
Xg.53409183T>GCA413255612SMC1Ac.1424A>C (p.Lys475Thr)
c.656A>C (p.Lys219Thr)
n.776A>C
c.1358A>C (p.Lys453Thr)
Xg.53409184T>ACA413255613SMC1Ac.1423A>T (p.Lys475Ter)
c.655A>T (p.Lys219Ter)
n.775A>T
c.1357A>T (p.Lys453Ter)
Xg.53409184T>CCA413255614SMC1Ac.1423A>G (p.Lys475Glu)
c.655A>G (p.Lys219Glu)
n.775A>G
c.1357A>G (p.Lys453Glu)
Xg.53409184T>GCA413255615SMC1Ac.1423A>C (p.Lys475Gln)
c.655A>C (p.Lys219Gln)
n.775A>C
c.1357A>C (p.Lys453Gln)
Xg.53409185A>CCA413255616SMC1Ac.1422T>G (p.Asn474Lys)
c.654T>G (p.Asn218Lys)
n.774T>G
c.1356T>G (p.Asn452Lys)
Xg.53409185A>GCA516561935SMC1Ac.1422T>C (p.Asn474=)
c.654T>C (p.Asn218=)
n.774T>C
c.1356T>C (p.Asn452=)
Xg.53409185A>TCA413255617SMC1Ac.1422T>A (p.Asn474Lys)
c.654T>A (p.Asn218Lys)
n.774T>A
c.1356T>A (p.Asn452Lys)
Xg.53409186T>ACA413255618SMC1Ac.1421A>T (p.Asn474Ile)
c.653A>T (p.Asn218Ile)
n.773A>T
c.1355A>T (p.Asn452Ile)
Xg.53409186T>CCA413255620SMC1Ac.1421A>G (p.Asn474Ser)
c.653A>G (p.Asn218Ser)
n.773A>G
c.1355A>G (p.Asn452Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.53409186T>GCA413255619SMC1Ac.1421A>C (p.Asn474Thr)
c.653A>C (p.Asn218Thr)
n.773A>C
c.1355A>C (p.Asn452Thr)
Xg.53409186T=CA2429826587SMC1Ac.1421A= (p.Asn474=)
c.653A= (p.Asn218=)
n.773A=
c.1355A= (p.Asn452=)
Xg.53409187T>ACA413255621SMC1Ac.1420A>T (p.Asn474Tyr)
c.652A>T (p.Asn218Tyr)
n.772A>T
c.1354A>T (p.Asn452Tyr)
Xg.53409187T>CCA413255623SMC1Ac.1420A>G (p.Asn474Asp)
c.652A>G (p.Asn218Asp)
n.772A>G
c.1354A>G (p.Asn452Asp)
Xg.53409187T>GCA413255622SMC1Ac.1420A>C (p.Asn474His)
c.652A>C (p.Asn218His)
n.772A>C
c.1354A>C (p.Asn452His)
Xg.53409188G>ACA329907445SMC1Ac.1419C>T (p.Ile473=)
c.651C>T (p.Ile217=)
n.771C>T
c.1353C>T (p.Ile451=)
 ClinVar dbSNP gnomAD v4
Xg.53409188G>CCA413255624SMC1Ac.1419C>G (p.Ile473Met)
c.651C>G (p.Ile217Met)
n.771C>G
c.1353C>G (p.Ile451Met)
Xg.53409188G=CA2429826588SMC1Ac.1419C= (p.Ile473=)
c.651C= (p.Ile217=)
n.771C=
c.1353C= (p.Ile451=)
Xg.53409188G>TCA516561939SMC1Ac.1419C>A (p.Ile473=)
c.651C>A (p.Ile217=)
n.771C>A
c.1353C>A (p.Ile451=)
Xg.53409189A>CCA413255625SMC1Ac.1418T>G (p.Ile473Ser)
c.650T>G (p.Ile217Ser)
n.770T>G
c.1352T>G (p.Ile451Ser)
Xg.53409189A>GCA413255626SMC1Ac.1418T>C (p.Ile473Thr)
c.650T>C (p.Ile217Thr)
n.770T>C
c.1352T>C (p.Ile451Thr)
Xg.53409189A>TCA413255627SMC1Ac.1418T>A (p.Ile473Asn)
c.650T>A (p.Ile217Asn)
n.770T>A
c.1352T>A (p.Ile451Asn)
Xg.53409190T>ACA413255628SMC1Ac.1417A>T (p.Ile473Phe)
c.649A>T (p.Ile217Phe)
n.769A>T
c.1351A>T (p.Ile451Phe)
Xg.53409190T>CCA413255629SMC1Ac.1417A>G (p.Ile473Val)
c.649A>G (p.Ile217Val)
n.769A>G
c.1351A>G (p.Ile451Val)
Xg.53409190T>GCA413255630SMC1Ac.1417A>C (p.Ile473Leu)
c.649A>C (p.Ile217Leu)
n.769A>C
c.1351A>C (p.Ile451Leu)
 gnomAD v4
Xg.53409191T>ACA413255631SMC1Ac.1416A>T (p.Glu472Asp)
c.648A>T (p.Glu216Asp)
n.768A>T
c.1350A>T (p.Glu450Asp)
Xg.53409191T>CCA516561941SMC1Ac.1416A>G (p.Glu472=)
c.648A>G (p.Glu216=)
n.768A>G
c.1350A>G (p.Glu450=)
Xg.53409191T>GCA413255632SMC1Ac.1416A>C (p.Glu472Asp)
c.648A>C (p.Glu216Asp)
n.768A>C
c.1350A>C (p.Glu450Asp)
Xg.53409192T>ACA413255633SMC1Ac.1415A>T (p.Glu472Val)
c.647A>T (p.Glu216Val)
n.767A>T
c.1349A>T (p.Glu450Val)
Xg.53409192T>CCA413255634SMC1Ac.1415A>G (p.Glu472Gly)
c.647A>G (p.Glu216Gly)
n.767A>G
c.1349A>G (p.Glu450Gly)
Xg.53409192T>GCA413255635SMC1Ac.1415A>C (p.Glu472Ala)
c.647A>C (p.Glu216Ala)
n.767A>C
c.1349A>C (p.Glu450Ala)
Xg.53409193C>ACA413255638SMC1Ac.1414G>T (p.Glu472Ter)
c.646G>T (p.Glu216Ter)
n.766G>T
c.1348G>T (p.Glu450Ter)
 COSMIC
Xg.53409193C>GCA413255637SMC1Ac.1414G>C (p.Glu472Gln)
c.646G>C (p.Glu216Gln)
n.766G>C
c.1348G>C (p.Glu450Gln)
Xg.53409193C>TCA413255636SMC1Ac.1414G>A (p.Glu472Lys)
c.646G>A (p.Glu216Lys)
n.766G>A
c.1348G>A (p.Glu450Lys)
Xg.53409194A>CCA413255639SMC1Ac.1413T>G (p.Asp471Glu)
c.645T>G (p.Asp215Glu)
n.765T>G
c.1347T>G (p.Asp449Glu)
Xg.53409194A>GCA516561942SMC1Ac.1413T>C (p.Asp471=)
c.645T>C (p.Asp215=)
n.765T>C
c.1347T>C (p.Asp449=)
Xg.53409194A>TCA413255640SMC1Ac.1413T>A (p.Asp471Glu)
c.645T>A (p.Asp215Glu)
n.765T>A
c.1347T>A (p.Asp449Glu)
Xg.53409195T>ACA413255641SMC1Ac.1412A>T (p.Asp471Val)
c.644A>T (p.Asp215Val)
n.764A>T
c.1346A>T (p.Asp449Val)
Xg.53409195T>CCA413255642SMC1Ac.1412A>G (p.Asp471Gly)
c.644A>G (p.Asp215Gly)
n.764A>G
c.1346A>G (p.Asp449Gly)
 ClinVar dbSNP
Xg.53409195T>GCA413255643SMC1Ac.1412A>C (p.Asp471Ala)
c.644A>C (p.Asp215Ala)
n.764A>C
c.1346A>C (p.Asp449Ala)
Xg.53409196C>ACA413255644SMC1Ac.1411G>T (p.Asp471Tyr)
c.643G>T (p.Asp215Tyr)
n.763G>T
c.1345G>T (p.Asp449Tyr)
Xg.53409196C>GCA413255645SMC1Ac.1411G>C (p.Asp471His)
c.643G>C (p.Asp215His)
n.763G>C
c.1345G>C (p.Asp449His)
Xg.53409196C>TCA413255646SMC1Ac.1411G>A (p.Asp471Asn)
c.643G>A (p.Asp215Asn)
n.763G>A
c.1345G>A (p.Asp449Asn)
Xg.53409197A=CA2429826589SMC1Ac.1410T= (p.Ile470=)
c.642T= (p.Ile214=)
n.762T=
c.1344T= (p.Ile448=)
Xg.53409197A>CCA413255647SMC1Ac.1410T>G (p.Ile470Met)
c.642T>G (p.Ile214Met)
n.762T>G
c.1344T>G (p.Ile448Met)
Xg.53409197A>GCA10420555SMC1Ac.1410T>C (p.Ile470=)
c.642T>C (p.Ile214=)
n.762T>C
c.1344T>C (p.Ile448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409197A>TCA516561943SMC1Ac.1410T>A (p.Ile470=)
c.642T>A (p.Ile214=)
n.762T>A
c.1344T>A (p.Ile448=)
Xg.53409198A>CCA413255648SMC1Ac.1409T>G (p.Ile470Ser)
c.641T>G (p.Ile214Ser)
n.761T>G
c.1343T>G (p.Ile448Ser)
Xg.53409198A>GCA413255649SMC1Ac.1409T>C (p.Ile470Thr)
c.641T>C (p.Ile214Thr)
n.761T>C
c.1343T>C (p.Ile448Thr)
Xg.53409198A>TCA413255650SMC1Ac.1409T>A (p.Ile470Asn)
c.641T>A (p.Ile214Asn)
n.761T>A
c.1343T>A (p.Ile448Asn)
Xg.53409199T>ACA413255652SMC1Ac.1408A>T (p.Ile470Phe)
c.640A>T (p.Ile214Phe)
n.760A>T
c.1342A>T (p.Ile448Phe)
Xg.53409199T>CCA10420556SMC1Ac.1408A>G (p.Ile470Val)
c.640A>G (p.Ile214Val)
n.760A>G
c.1342A>G (p.Ile448Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53409199T>GCA413255651SMC1Ac.1408A>C (p.Ile470Leu)
c.640A>C (p.Ile214Leu)
n.760A>C
c.1342A>C (p.Ile448Leu)
Xg.53409199T=CA2429826590SMC1Ac.1408A= (p.Ile470=)
c.640A= (p.Ile214=)
n.760A=
c.1342A= (p.Ile448=)
Xg.53409200A>CCA516561944SMC1Ac.1407T>G (p.Arg469=)
c.639T>G (p.Arg213=)
n.759T>G
c.1341T>G (p.Arg447=)
Xg.53409200A>GCA516561945SMC1Ac.1407T>C (p.Arg469=)
c.639T>C (p.Arg213=)
n.759T>C
c.1341T>C (p.Arg447=)
Xg.53409200A>TCA516561946SMC1Ac.1407T>A (p.Arg469=)
c.639T>A (p.Arg213=)
n.759T>A
c.1341T>A (p.Arg447=)
Xg.53409201C>ACA413255653SMC1Ac.1406G>T (p.Arg469Leu)
c.638G>T (p.Arg213Leu)
n.758G>T
c.1340G>T (p.Arg447Leu)
Xg.53409201C=CA2429826593SMC1Ac.1406G= (p.Arg469=)
c.638G= (p.Arg213=)
n.758G=
c.1340G= (p.Arg447=)
Xg.53409201C>GCA413255654SMC1Ac.1406G>C (p.Arg469Pro)
c.638G>C (p.Arg213Pro)
n.758G>C
c.1340G>C (p.Arg447Pro)
Xg.53409201C>TCA10420557SMC1Ac.1406G>A (p.Arg469His)
c.638G>A (p.Arg213His)
n.758G>A
c.1340G>A (p.Arg447His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53409202G>ACA413255655SMC1Ac.1405C>T (p.Arg469Cys)
c.637C>T (p.Arg213Cys)
n.757C>T
c.1339C>T (p.Arg447Cys)
 gnomAD v4 COSMIC
Xg.53409202G>CCA413255656SMC1Ac.1405C>G (p.Arg469Gly)
c.637C>G (p.Arg213Gly)
n.757C>G
c.1339C>G (p.Arg447Gly)
Xg.53409202G>TCA413255657SMC1Ac.1405C>A (p.Arg469Ser)
c.637C>A (p.Arg213Ser)
n.757C>A
c.1339C>A (p.Arg447Ser)
 gnomAD v4
Xg.53409203C>ACA516561947SMC1Ac.1404G>T (p.Arg468=)
c.636G>T (p.Arg212=)
n.756G>T
c.1338G>T (p.Arg446=)
Xg.53409203C>GCA516561948SMC1Ac.1404G>C (p.Arg468=)
c.636G>C (p.Arg212=)
n.756G>C
c.1338G>C (p.Arg446=)
Xg.53409203C>TCA516561949SMC1Ac.1404G>A (p.Arg468=)
c.636G>A (p.Arg212=)
n.756G>A
c.1338G>A (p.Arg446=)
 ClinVar
Xg.53409204C>ACA413255658SMC1Ac.1403G>T (p.Arg468Leu)
c.635G>T (p.Arg212Leu)
n.755G>T
c.1337G>T (p.Arg446Leu)
Xg.53409204C=CA2429826596SMC1Ac.1403G= (p.Arg468=)
c.635G= (p.Arg212=)
n.755G=
c.1337G= (p.Arg446=)
Xg.53409204C>GCA413255659SMC1Ac.1403G>C (p.Arg468Pro)
c.635G>C (p.Arg212Pro)
n.755G>C
c.1337G>C (p.Arg446Pro)
Xg.53409204C>TCA413255660SMC1Ac.1403G>A (p.Arg468Gln)
c.635G>A (p.Arg212Gln)
n.755G>A
c.1337G>A (p.Arg446Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53409205G>ACA413255661SMC1Ac.1402C>T (p.Arg468Trp)
c.634C>T (p.Arg212Trp)
n.754C>T
c.1336C>T (p.Arg446Trp)
 dbSNP gnomAD v2 gnomAD v4
Xg.53409205G>CCA413255662SMC1Ac.1402C>G (p.Arg468Gly)
c.634C>G (p.Arg212Gly)
n.754C>G
c.1336C>G (p.Arg446Gly)
Xg.53409205G=CA2429826602SMC1Ac.1402C= (p.Arg468=)
c.634C= (p.Arg212=)
n.754C=
c.1336C= (p.Arg446=)
Xg.53409205G>TCA516561950SMC1Ac.1402C>A (p.Arg468=)
c.634C>A (p.Arg212=)
n.754C>A
c.1336C>A (p.Arg446=)
 ClinVar dbSNP
Xg.53409206C>ACA413255664SMC1Ac.1401G>T (p.Lys467Asn)
c.633G>T (p.Lys211Asn)
n.753G>T
c.1335G>T (p.Lys445Asn)
Xg.53409206C>GCA413255663SMC1Ac.1401G>C (p.Lys467Asn)
c.633G>C (p.Lys211Asn)
n.753G>C
c.1335G>C (p.Lys445Asn)
Xg.53409206C>TCA516561951SMC1Ac.1401G>A (p.Lys467=)
c.633G>A (p.Lys211=)
n.753G>A
c.1335G>A (p.Lys445=)
Xg.53409207T>ACA413255665SMC1Ac.1400A>T (p.Lys467Met)
c.632A>T (p.Lys211Met)
n.752A>T
c.1334A>T (p.Lys445Met)
Xg.53409207T>CCA413255666SMC1Ac.1400A>G (p.Lys467Arg)
c.632A>G (p.Lys211Arg)
n.752A>G
c.1334A>G (p.Lys445Arg)
Xg.53409207T>GCA413255667SMC1Ac.1400A>C (p.Lys467Thr)
c.632A>C (p.Lys211Thr)
n.752A>C
c.1334A>C (p.Lys445Thr)
Xg.53409208T>ACA413255668SMC1Ac.1399A>T (p.Lys467Ter)
c.631A>T (p.Lys211Ter)
n.751A>T
c.1333A>T (p.Lys445Ter)
Xg.53409208T>CCA413255669SMC1Ac.1399A>G (p.Lys467Glu)
c.631A>G (p.Lys211Glu)
n.751A>G
c.1333A>G (p.Lys445Glu)
Xg.53409208T>GCA413255670SMC1Ac.1399A>C (p.Lys467Gln)
c.631A>C (p.Lys211Gln)
n.751A>C
c.1333A>C (p.Lys445Gln)
Xg.53409209G>ACA516561952SMC1Ac.1398C>T (p.Ala466=)
c.630C>T (p.Ala210=)
n.750C>T
c.1332C>T (p.Ala444=)
Xg.53409209G>CCA516561953SMC1Ac.1398C>G (p.Ala466=)
c.630C>G (p.Ala210=)
n.750C>G
c.1332C>G (p.Ala444=)
Xg.53409209G>TCA516561954SMC1Ac.1398C>A (p.Ala466=)
c.630C>A (p.Ala210=)
n.750C>A
c.1332C>A (p.Ala444=)
Xg.53409210G>ACA413255671SMC1Ac.1397C>T (p.Ala466Val)
c.629C>T (p.Ala210Val)
n.749C>T
c.1331C>T (p.Ala444Val)
Xg.53409210G>CCA413255672SMC1Ac.1397C>G (p.Ala466Gly)
c.629C>G (p.Ala210Gly)
n.749C>G
c.1331C>G (p.Ala444Gly)
Xg.53409210G>TCA413255673SMC1Ac.1397C>A (p.Ala466Asp)
c.629C>A (p.Ala210Asp)
n.749C>A
c.1331C>A (p.Ala444Asp)
Xg.53409211C>ACA413255674SMC1Ac.1396G>T (p.Ala466Ser)
c.628G>T (p.Ala210Ser)
n.748G>T
c.1330G>T (p.Ala444Ser)
 ClinVar
Xg.53409211C>GCA413255675SMC1Ac.1396G>C (p.Ala466Pro)
c.628G>C (p.Ala210Pro)
n.748G>C
c.1330G>C (p.Ala444Pro)
Xg.53409211C>TCA413255676SMC1Ac.1396G>A (p.Ala466Thr)
c.628G>A (p.Ala210Thr)
n.748G>A
c.1330G>A (p.Ala444Thr)
Xg.53409212C>ACA413255677SMC1Ac.1395G>T (p.Met465Ile)
c.627G>T (p.Met209Ile)
n.747G>T
c.1329G>T (p.Met443Ile)
Xg.53409212C=CA2429826605SMC1Ac.1395G= (p.Met465=)
c.627G= (p.Met209=)
n.747G=
c.1329G= (p.Met443=)
Xg.53409212C>GCA413255678SMC1Ac.1395G>C (p.Met465Ile)
c.627G>C (p.Met209Ile)
n.747G>C
c.1329G>C (p.Met443Ile)
Xg.53409212C>TCA10420558SMC1Ac.1395G>A (p.Met465Ile)
c.627G>A (p.Met209Ile)
n.747G>A
c.1329G>A (p.Met443Ile)
 dbSNP ExAC gnomAD v2
Xg.53409213A>CCA413255681SMC1Ac.1394T>G (p.Met465Arg)
c.626T>G (p.Met209Arg)
n.746T>G
c.1328T>G (p.Met443Arg)
Xg.53409213A>GCA413255679SMC1Ac.1394T>C (p.Met465Thr)
c.626T>C (p.Met209Thr)
n.746T>C
c.1328T>C (p.Met443Thr)
Xg.53409213A>TCA413255680SMC1Ac.1394T>A (p.Met465Lys)
c.626T>A (p.Met209Lys)
n.746T>A
c.1328T>A (p.Met443Lys)
Xg.53409214T>ACA413255682SMC1Ac.1393A>T (p.Met465Leu)
c.625A>T (p.Met209Leu)
n.745A>T
c.1327A>T (p.Met443Leu)
Xg.53409214T>CCA413255683SMC1Ac.1393A>G (p.Met465Val)
c.625A>G (p.Met209Val)
n.745A>G
c.1327A>G (p.Met443Val)
Xg.53409214T>GCA413255684SMC1Ac.1393A>C (p.Met465Leu)
c.625A>C (p.Met209Leu)
n.745A>C
c.1327A>C (p.Met443Leu)
Xg.53409215C>ACA413255685SMC1Ac.1392G>T (p.Glu464Asp)
c.624G>T (p.Glu208Asp)
n.744G>T
c.1326G>T (p.Glu442Asp)
Xg.53409215C>GCA413255686SMC1Ac.1392G>C (p.Glu464Asp)
c.624G>C (p.Glu208Asp)
n.744G>C
c.1326G>C (p.Glu442Asp)
Xg.53409215C>TCA516561957SMC1Ac.1392G>A (p.Glu464=)
c.624G>A (p.Glu208=)
n.744G>A
c.1326G>A (p.Glu442=)
Xg.53409216T>ACA413255687SMC1Ac.1391A>T (p.Glu464Val)
c.623A>T (p.Glu208Val)
n.743A>T
c.1325A>T (p.Glu442Val)
Xg.53409216T>CCA413255689SMC1Ac.1391A>G (p.Glu464Gly)
c.623A>G (p.Glu208Gly)
n.743A>G
c.1325A>G (p.Glu442Gly)
Xg.53409216T>GCA413255688SMC1Ac.1391A>C (p.Glu464Ala)
c.623A>C (p.Glu208Ala)
n.743A>C
c.1325A>C (p.Glu442Ala)
Xg.53409217C>ACA413255690SMC1Ac.1390G>T (p.Glu464Ter)
c.622G>T (p.Glu208Ter)
n.742G>T
c.1324G>T (p.Glu442Ter)
Xg.53409217C>GCA413255691SMC1Ac.1390G>C (p.Glu464Gln)
c.622G>C (p.Glu208Gln)
n.742G>C
c.1324G>C (p.Glu442Gln)
Xg.53409217C>TCA413255692SMC1Ac.1390G>A (p.Glu464Lys)
c.622G>A (p.Glu208Lys)
n.742G>A
c.1324G>A (p.Glu442Lys)

Number of alleles fetched