Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53409068G>A | CA516561231 | SMC1A | c.1539C>T (p.Gly513=) c.771C>T (p.Gly257=) n.891C>T c.1473C>T (p.Gly491=) | |
X | g.53409068G>C | CA516561237 | SMC1A | c.1539C>G (p.Gly513=) c.771C>G (p.Gly257=) n.891C>G c.1473C>G (p.Gly491=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53409068G= | CA2429826504 | SMC1A | c.1539C= (p.Gly513=) c.771C= (p.Gly257=) n.891C= c.1473C= (p.Gly491=) | |
X | g.53409068G>T | CA516561233 | SMC1A | c.1539C>A (p.Gly513=) c.771C>A (p.Gly257=) n.891C>A c.1473C>A (p.Gly491=) | |
X | g.53409069C>A | CA413255249 | SMC1A | c.1538G>T (p.Gly513Val) c.770G>T (p.Gly257Val) n.890G>T c.1472G>T (p.Gly491Val) | |
X | g.53409069C>G | CA413255251 | SMC1A | c.1538G>C (p.Gly513Ala) c.770G>C (p.Gly257Ala) n.890G>C c.1472G>C (p.Gly491Ala) | |
X | g.53409069C>T | CA413255252 | SMC1A | c.1538G>A (p.Gly513Asp) c.770G>A (p.Gly257Asp) n.890G>A c.1472G>A (p.Gly491Asp) | |
X | g.53409070C>A | CA413255254 | SMC1A | c.1537G>T (p.Gly513Cys) c.769G>T (p.Gly257Cys) n.889G>T c.1471G>T (p.Gly491Cys) | |
X | g.53409070C>G | CA413255256 | SMC1A | c.1537G>C (p.Gly513Arg) c.769G>C (p.Gly257Arg) n.889G>C c.1471G>C (p.Gly491Arg) | gnomAD v4 |
X | g.53409070C>T | CA413255258 | SMC1A | c.1537G>A (p.Gly513Ser) c.769G>A (p.Gly257Ser) n.889G>A c.1471G>A (p.Gly491Ser) | |
X | g.53409071A= | CA2429826505 | SMC1A | c.1536T= (p.Pro512=) c.768T= (p.Pro256=) n.888T= c.1470T= (p.Pro490=) | |
X | g.53409071A>C | CA516561243 | SMC1A | c.1536T>G (p.Pro512=) c.768T>G (p.Pro256=) n.888T>G c.1470T>G (p.Pro490=) | |
X | g.53409071A>G | CA329907444 | SMC1A | c.1536T>C (p.Pro512=) c.768T>C (p.Pro256=) n.888T>C c.1470T>C (p.Pro490=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53409071A>T | CA516561247 | SMC1A | c.1536T>A (p.Pro512=) c.768T>A (p.Pro256=) n.888T>A c.1470T>A (p.Pro490=) | |
X | g.53409072G>A | CA413255264 | SMC1A | c.1535C>T (p.Pro512Leu) c.767C>T (p.Pro256Leu) n.887C>T c.1469C>T (p.Pro490Leu) | |
X | g.53409072G>C | CA413255261 | SMC1A | c.1535C>G (p.Pro512Arg) c.767C>G (p.Pro256Arg) n.887C>G c.1469C>G (p.Pro490Arg) | |
X | g.53409072G>T | CA413255263 | SMC1A | c.1535C>A (p.Pro512His) c.767C>A (p.Pro256His) n.887C>A c.1469C>A (p.Pro490His) | COSMIC |
X | g.53409073G>A | CA413255267 | SMC1A | c.1534C>T (p.Pro512Ser) c.766C>T (p.Pro256Ser) n.886C>T c.1468C>T (p.Pro490Ser) | gnomAD v4 COSMIC |
X | g.53409073G>C | CA413255268 | SMC1A | c.1534C>G (p.Pro512Ala) c.766C>G (p.Pro256Ala) n.886C>G c.1468C>G (p.Pro490Ala) | |
X | g.53409073G>T | CA413255270 | SMC1A | c.1534C>A (p.Pro512Thr) c.766C>A (p.Pro256Thr) n.886C>A c.1468C>A (p.Pro490Thr) | |
X | g.53409074G>A | CA516561279 | SMC1A | c.1533C>T (p.Tyr511=) c.765C>T (p.Tyr255=) n.885C>T c.1467C>T (p.Tyr489=) | |
X | g.53409074G>C | CA413255271 | SMC1A | c.1533C>G (p.Tyr511Ter) c.765C>G (p.Tyr255Ter) n.885C>G c.1467C>G (p.Tyr489Ter) | |
X | g.53409074G>T | CA413255273 | SMC1A | c.1533C>A (p.Tyr511Ter) c.765C>A (p.Tyr255Ter) n.885C>A c.1467C>A (p.Tyr489Ter) | |
X | g.53409075T>A | CA413255275 | SMC1A | c.1532A>T (p.Tyr511Phe) c.764A>T (p.Tyr255Phe) n.884A>T c.1466A>T (p.Tyr489Phe) | gnomAD v4 |
X | g.53409075T>C | CA413255277 | SMC1A | c.1532A>G (p.Tyr511Cys) c.764A>G (p.Tyr255Cys) n.884A>G c.1466A>G (p.Tyr489Cys) | |
X | g.53409075T>G | CA413255278 | SMC1A | c.1532A>C (p.Tyr511Ser) c.764A>C (p.Tyr255Ser) n.884A>C c.1466A>C (p.Tyr489Ser) | |
X | g.53409076A>C | CA413255281 | SMC1A | c.1531T>G (p.Tyr511Asp) c.763T>G (p.Tyr255Asp) n.883T>G c.1465T>G (p.Tyr489Asp) | |
X | g.53409076A>G | CA413255282 | SMC1A | c.1531T>C (p.Tyr511His) c.763T>C (p.Tyr255His) n.883T>C c.1465T>C (p.Tyr489His) | |
X | g.53409076A>T | CA413255284 | SMC1A | c.1531T>A (p.Tyr511Asn) c.763T>A (p.Tyr255Asn) n.883T>A c.1465T>A (p.Tyr489Asn) | |
X | g.53409078del | CA2579615845 | SMC1A | c.1531del (p.Tyr511ThrfsTer24) c.763del (p.Tyr255ThrfsTer24) n.883del c.1465del (p.Tyr489ThrfsTer24) | |
X | g.53409077A>C | CA516561299 | SMC1A | c.1530T>G (p.Leu510=) c.762T>G (p.Leu254=) n.882T>G c.1464T>G (p.Leu488=) | |
X | g.53409077A>G | CA516561302 | SMC1A | c.1530T>C (p.Leu510=) c.762T>C (p.Leu254=) n.882T>C c.1464T>C (p.Leu488=) | |
X | g.53409077A>T | CA516561296 | SMC1A | c.1530T>A (p.Leu510=) c.762T>A (p.Leu254=) n.882T>A c.1464T>A (p.Leu488=) | |
X | g.53409078A>C | CA413255290 | SMC1A | c.1529T>G (p.Leu510Arg) c.761T>G (p.Leu254Arg) n.881T>G c.1463T>G (p.Leu488Arg) | |
X | g.53409078A>G | CA413255288 | SMC1A | c.1529T>C (p.Leu510Pro) c.761T>C (p.Leu254Pro) n.881T>C c.1463T>C (p.Leu488Pro) | |
X | g.53409078A>T | CA413255286 | SMC1A | c.1529T>A (p.Leu510His) c.761T>A (p.Leu254His) n.881T>A c.1463T>A (p.Leu488His) | |
X | g.53409079G>A | CA413255292 | SMC1A | c.1528C>T (p.Leu510Phe) c.760C>T (p.Leu254Phe) n.880C>T c.1462C>T (p.Leu488Phe) | |
X | g.53409079G>C | CA413255295 | SMC1A | c.1528C>G (p.Leu510Val) c.760C>G (p.Leu254Val) n.880C>G c.1462C>G (p.Leu488Val) | |
X | g.53409079G>T | CA413255293 | SMC1A | c.1528C>A (p.Leu510Ile) c.760C>A (p.Leu254Ile) n.880C>A c.1462C>A (p.Leu488Ile) | |
X | g.53409080G>A | CA516561316 | SMC1A | c.1527C>T (p.Arg509=) c.759C>T (p.Arg253=) n.879C>T c.1461C>T (p.Arg487=) | dbSNP gnomAD v4 |
X | g.53409080G>C | CA516561319 | SMC1A | c.1527C>G (p.Arg509=) c.759C>G (p.Arg253=) n.879C>G c.1461C>G (p.Arg487=) | |
X | g.53409080G= | CA2429826506 | SMC1A | c.1527C= (p.Arg509=) c.759C= (p.Arg253=) n.879C= c.1461C= (p.Arg487=) | |
X | g.53409080G>T | CA516561322 | SMC1A | c.1527C>A (p.Arg509=) c.759C>A (p.Arg253=) n.879C>A c.1461C>A (p.Arg487=) | |
X | g.53409081C>A | CA413255297 | SMC1A | c.1526G>T (p.Arg509Leu) c.758G>T (p.Arg253Leu) n.878G>T c.1460G>T (p.Arg487Leu) | |
X | g.53409081C>G | CA413255301 | SMC1A | c.1526G>C (p.Arg509Pro) c.758G>C (p.Arg253Pro) n.878G>C c.1460G>C (p.Arg487Pro) | |
X | g.53409081C>T | CA413255299 | SMC1A | c.1526G>A (p.Arg509His) c.758G>A (p.Arg253His) n.878G>A c.1460G>A (p.Arg487His) | COSMIC |
X | g.53409082G>A | CA413255303 | SMC1A | c.1525C>T (p.Arg509Cys) c.757C>T (p.Arg253Cys) n.877C>T c.1459C>T (p.Arg487Cys) | gnomAD v4 COSMIC |
X | g.53409082G>C | CA413255307 | SMC1A | c.1525C>G (p.Arg509Gly) c.757C>G (p.Arg253Gly) n.877C>G c.1459C>G (p.Arg487Gly) | |
X | g.53409082G>T | CA413255305 | SMC1A | c.1525C>A (p.Arg509Ser) c.757C>A (p.Arg253Ser) n.877C>A c.1459C>A (p.Arg487Ser) | |
X | g.53409083C>A | CA413255309 | SMC1A | c.1524G>T (p.Lys508Asn) c.756G>T (p.Lys252Asn) n.876G>T c.1458G>T (p.Lys486Asn) | |
X | g.53409083C>G | CA413255310 | SMC1A | c.1524G>C (p.Lys508Asn) c.756G>C (p.Lys252Asn) n.876G>C c.1458G>C (p.Lys486Asn) | |
X | g.53409083C>T | CA516561336 | SMC1A | c.1524G>A (p.Lys508=) c.756G>A (p.Lys252=) n.876G>A c.1458G>A (p.Lys486=) | COSMIC |
X | g.53409084T>A | CA413255313 | SMC1A | c.1523A>T (p.Lys508Met) c.755A>T (p.Lys252Met) n.875A>T c.1457A>T (p.Lys486Met) | |
X | g.53409084T>C | CA413255316 | SMC1A | c.1523A>G (p.Lys508Arg) c.755A>G (p.Lys252Arg) n.875A>G c.1457A>G (p.Lys486Arg) | dbSNP |
X | g.53409084T>G | CA413255314 | SMC1A | c.1523A>C (p.Lys508Thr) c.755A>C (p.Lys252Thr) n.875A>C c.1457A>C (p.Lys486Thr) | |
X | g.53409084T= | CA2429826507 | SMC1A | c.1523A= (p.Lys508=) c.755A= (p.Lys252=) n.875A= c.1457A= (p.Lys486=) | |
X | g.53409085T>A | CA413255317 | SMC1A | c.1522A>T (p.Lys508Ter) c.754A>T (p.Lys252Ter) n.874A>T c.1456A>T (p.Lys486Ter) | |
X | g.53409085T>C | CA413255320 | SMC1A | c.1522A>G (p.Lys508Glu) c.754A>G (p.Lys252Glu) n.874A>G c.1456A>G (p.Lys486Glu) | |
X | g.53409085T>G | CA413255319 | SMC1A | c.1522A>C (p.Lys508Gln) c.754A>C (p.Lys252Gln) n.874A>C c.1456A>C (p.Lys486Gln) | |
X | g.53409086G>A | CA516561351 | SMC1A | c.1521C>T (p.Ile507=) c.753C>T (p.Ile251=) n.873C>T c.1455C>T (p.Ile485=) | |
X | g.53409086G>C | CA413255322 | SMC1A | c.1521C>G (p.Ile507Met) c.753C>G (p.Ile251Met) n.873C>G c.1455C>G (p.Ile485Met) | |
X | g.53409086G>T | CA516561355 | SMC1A | c.1521C>A (p.Ile507=) c.753C>A (p.Ile251=) n.873C>A c.1455C>A (p.Ile485=) | |
X | g.53409087A>C | CA413255324 | SMC1A | c.1520T>G (p.Ile507Ser) c.752T>G (p.Ile251Ser) n.872T>G c.1454T>G (p.Ile485Ser) | |
X | g.53409087A>G | CA413255326 | SMC1A | c.1520T>C (p.Ile507Thr) c.752T>C (p.Ile251Thr) n.872T>C c.1454T>C (p.Ile485Thr) | |
X | g.53409087A>T | CA413255327 | SMC1A | c.1520T>A (p.Ile507Asn) c.752T>A (p.Ile251Asn) n.872T>A c.1454T>A (p.Ile485Asn) | |
X | g.53409088T>A | CA413255329 | SMC1A | c.1519A>T (p.Ile507Phe) c.751A>T (p.Ile251Phe) n.871A>T c.1453A>T (p.Ile485Phe) | |
X | g.53409088T>C | CA413255331 | SMC1A | c.1519A>G (p.Ile507Val) c.751A>G (p.Ile251Val) n.871A>G c.1453A>G (p.Ile485Val) | |
X | g.53409088T>G | CA413255333 | SMC1A | c.1519A>C (p.Ile507Leu) c.751A>C (p.Ile251Leu) n.871A>C c.1453A>C (p.Ile485Leu) | |
X | g.53409089G>A | CA516561370 | SMC1A | c.1518C>T (p.Ser506=) c.750C>T (p.Ser250=) n.870C>T c.1452C>T (p.Ser484=) | gnomAD v4 |
X | g.53409089G>C | CA413255335 | SMC1A | c.1518C>G (p.Ser506Arg) c.750C>G (p.Ser250Arg) n.870C>G c.1452C>G (p.Ser484Arg) | |
X | g.53409089G>T | CA413255337 | SMC1A | c.1518C>A (p.Ser506Arg) c.750C>A (p.Ser250Arg) n.870C>A c.1452C>A (p.Ser484Arg) | |
X | g.53409090C>A | CA413255343 | SMC1A | c.1517G>T (p.Ser506Ile) c.749G>T (p.Ser250Ile) n.869G>T c.1451G>T (p.Ser484Ile) | |
X | g.53409090C= | CA2429826508 | SMC1A | c.1517G= (p.Ser506=) c.749G= (p.Ser250=) n.869G= c.1451G= (p.Ser484=) | |
X | g.53409090C>G | CA413255341 | SMC1A | c.1517G>C (p.Ser506Thr) c.749G>C (p.Ser250Thr) n.869G>C c.1451G>C (p.Ser484Thr) | |
X | g.53409090C>T | CA413255339 | SMC1A | c.1517G>A (p.Ser506Asn) c.749G>A (p.Ser250Asn) n.869G>A c.1451G>A (p.Ser484Asn) | dbSNP |
X | g.53409091T>A | CA413255345 | SMC1A | c.1516A>T (p.Ser506Cys) c.748A>T (p.Ser250Cys) n.868A>T c.1450A>T (p.Ser484Cys) | |
X | g.53409091T>C | CA413255347 | SMC1A | c.1516A>G (p.Ser506Gly) c.748A>G (p.Ser250Gly) n.868A>G c.1450A>G (p.Ser484Gly) | |
X | g.53409091T>G | CA413255348 | SMC1A | c.1516A>C (p.Ser506Arg) c.748A>C (p.Ser250Arg) n.868A>C c.1450A>C (p.Ser484Arg) | |
X | g.53409092T>A | CA413255350 | SMC1A | c.1515A>T (p.Glu505Asp) c.747A>T (p.Glu249Asp) n.867A>T c.1449A>T (p.Glu483Asp) | |
X | g.53409092T>C | CA516561391 | SMC1A | c.1515A>G (p.Glu505=) c.747A>G (p.Glu249=) n.867A>G c.1449A>G (p.Glu483=) | |
X | g.53409092T>G | CA413255352 | SMC1A | c.1515A>C (p.Glu505Asp) c.747A>C (p.Glu249Asp) n.867A>C c.1449A>C (p.Glu483Asp) | |
X | g.53409093T>A | CA413255354 | SMC1A | c.1514A>T (p.Glu505Val) c.746A>T (p.Glu249Val) n.866A>T c.1448A>T (p.Glu483Val) | |
X | g.53409093T>C | CA413255356 | SMC1A | c.1514A>G (p.Glu505Gly) c.746A>G (p.Glu249Gly) n.866A>G c.1448A>G (p.Glu483Gly) | |
X | g.53409093T>G | CA413255357 | SMC1A | c.1514A>C (p.Glu505Ala) c.746A>C (p.Glu249Ala) n.866A>C c.1448A>C (p.Glu483Ala) | |
X | g.53409094C>A | CA413255359 | SMC1A | c.1513G>T (p.Glu505Ter) c.745G>T (p.Glu249Ter) n.865G>T c.1447G>T (p.Glu483Ter) | |
X | g.53409094C>G | CA413255361 | SMC1A | c.1513G>C (p.Glu505Gln) c.745G>C (p.Glu249Gln) n.865G>C c.1447G>C (p.Glu483Gln) | |
X | g.53409094C>T | CA413255363 | SMC1A | c.1513G>A (p.Glu505Lys) c.745G>A (p.Glu249Lys) n.865G>A c.1447G>A (p.Glu483Lys) | |
X | g.53409095C>A | CA413255367 | SMC1A | c.1512G>T (p.Met504Ile) c.744G>T (p.Met248Ile) n.864G>T c.1446G>T (p.Met482Ile) | |
X | g.53409095C>G | CA413255368 | SMC1A | c.1512G>C (p.Met504Ile) c.744G>C (p.Met248Ile) n.864G>C c.1446G>C (p.Met482Ile) | |
X | g.53409095C>T | CA413255365 | SMC1A | c.1512G>A (p.Met504Ile) c.744G>A (p.Met248Ile) n.864G>A c.1446G>A (p.Met482Ile) | |
X | g.53409096A= | CA2429826509 | SMC1A | c.1511T= (p.Met504=) c.743T= (p.Met248=) n.863T= c.1445T= (p.Met482=) | |
X | g.53409096A>C | CA413255370 | SMC1A | c.1511T>G (p.Met504Arg) c.743T>G (p.Met248Arg) n.863T>G c.1445T>G (p.Met482Arg) | |
X | g.53409096A>G | CA413255372 | SMC1A | c.1511T>C (p.Met504Thr) c.743T>C (p.Met248Thr) n.863T>C c.1445T>C (p.Met482Thr) | dbSNP |
X | g.53409096A>T | CA413255373 | SMC1A | c.1511T>A (p.Met504Lys) c.743T>A (p.Met248Lys) n.863T>A c.1445T>A (p.Met482Lys) | gnomAD v4 |
X | g.53409097T>A | CA413255375 | SMC1A | c.1510A>T (p.Met504Leu) c.742A>T (p.Met248Leu) n.862A>T c.1444A>T (p.Met482Leu) | |
X | g.53409097T>C | CA413255377 | SMC1A | c.1510A>G (p.Met504Val) c.742A>G (p.Met248Val) n.862A>G c.1444A>G (p.Met482Val) | |
X | g.53409097T>G | CA413255378 | SMC1A | c.1510A>C (p.Met504Leu) c.742A>C (p.Met248Leu) n.862A>C c.1444A>C (p.Met482Leu) | |
X | g.53409098T>A | CA516561429 | SMC1A | c.1509A>T (p.Ile503=) c.741A>T (p.Ile247=) n.861A>T c.1443A>T (p.Ile481=) | |
X | g.53409098T>C | CA413255380 | SMC1A | c.1509A>G (p.Ile503Met) c.741A>G (p.Ile247Met) n.861A>G c.1443A>G (p.Ile481Met) | |
X | g.53409098T>G | CA516561431 | SMC1A | c.1509A>C (p.Ile503=) c.741A>C (p.Ile247=) n.861A>C c.1443A>C (p.Ile481=) | |
X | g.53409099A>C | CA413255382 | SMC1A | c.1508T>G (p.Ile503Arg) c.740T>G (p.Ile247Arg) n.860T>G c.1442T>G (p.Ile481Arg) | |
X | g.53409099A>G | CA413255384 | SMC1A | c.1508T>C (p.Ile503Thr) c.740T>C (p.Ile247Thr) n.860T>C c.1442T>C (p.Ile481Thr) | |
X | g.53409099A>T | CA413255386 | SMC1A | c.1508T>A (p.Ile503Lys) c.740T>A (p.Ile247Lys) n.860T>A c.1442T>A (p.Ile481Lys) | |
X | g.53409100T>A | CA413255388 | SMC1A | c.1507A>T (p.Ile503Leu) c.739A>T (p.Ile247Leu) n.859A>T c.1441A>T (p.Ile481Leu) | |
X | g.53409100T>C | CA413255390 | SMC1A | c.1507A>G (p.Ile503Val) c.739A>G (p.Ile247Val) n.859A>G c.1441A>G (p.Ile481Val) | |
X | g.53409100T>G | CA413255392 | SMC1A | c.1507A>C (p.Ile503Leu) c.739A>C (p.Ile247Leu) n.859A>C c.1441A>C (p.Ile481Leu) | |
X | g.53409101C>A | CA413255394 | SMC1A | c.1506G>T (p.Glu502Asp) c.738G>T (p.Glu246Asp) n.858G>T c.1440G>T (p.Glu480Asp) | |
X | g.53409101C>G | CA413255396 | SMC1A | c.1506G>C (p.Glu502Asp) c.738G>C (p.Glu246Asp) n.858G>C c.1440G>C (p.Glu480Asp) | |
X | g.53409101C>T | CA516561455 | SMC1A | c.1506G>A (p.Glu502=) c.738G>A (p.Glu246=) n.858G>A c.1440G>A (p.Glu480=) | |
X | g.53409102T>A | CA413255398 | SMC1A | c.1505A>T (p.Glu502Val) c.737A>T (p.Glu246Val) n.857A>T c.1439A>T (p.Glu480Val) | |
X | g.53409102T>C | CA413255399 | SMC1A | c.1505A>G (p.Glu502Gly) c.737A>G (p.Glu246Gly) n.857A>G c.1439A>G (p.Glu480Gly) | |
X | g.53409102T>G | CA413255401 | SMC1A | c.1505A>C (p.Glu502Ala) c.737A>C (p.Glu246Ala) n.857A>C c.1439A>C (p.Glu480Ala) | |
X | g.53409103C>A | CA413255403 | SMC1A | c.1504G>T (p.Glu502Ter) c.736G>T (p.Glu246Ter) n.856G>T c.1438G>T (p.Glu480Ter) | |
X | g.53409103C= | CA2429826511 | SMC1A | c.1504G= (p.Glu502=) c.736G= (p.Glu246=) n.856G= c.1438G= (p.Glu480=) | |
X | g.53409103C>G | CA413255405 | SMC1A | c.1504G>C (p.Glu502Gln) c.736G>C (p.Glu246Gln) n.856G>C c.1438G>C (p.Glu480Gln) | |
X | g.53409103C>T | CA16608533 | SMC1A | c.1504G>A (p.Glu502Lys) c.736G>A (p.Glu246Lys) n.856G>A c.1438G>A (p.Glu480Lys) | ClinVar dbSNP |
X | g.53409104T>A | CA516561473 | SMC1A | c.1503A>T (p.Ala501=) c.735A>T (p.Ala245=) n.855A>T c.1437A>T (p.Ala479=) | |
X | g.53409104T>C | CA516561475 | SMC1A | c.1503A>G (p.Ala501=) c.735A>G (p.Ala245=) n.855A>G c.1437A>G (p.Ala479=) | gnomAD v4 |
X | g.53409104T>G | CA516561477 | SMC1A | c.1503A>C (p.Ala501=) c.735A>C (p.Ala245=) n.855A>C c.1437A>C (p.Ala479=) | |
X | g.53409105G>A | CA413255408 | SMC1A | c.1502C>T (p.Ala501Val) c.734C>T (p.Ala245Val) n.854C>T c.1436C>T (p.Ala479Val) | |
X | g.53409105G>C | CA413255410 | SMC1A | c.1502C>G (p.Ala501Gly) c.734C>G (p.Ala245Gly) n.854C>G c.1436C>G (p.Ala479Gly) | |
X | g.53409105G>T | CA413255411 | SMC1A | c.1502C>A (p.Ala501Glu) c.734C>A (p.Ala245Glu) n.854C>A c.1436C>A (p.Ala479Glu) | gnomAD v4 |
X | g.53409106C>A | CA413255414 | SMC1A | c.1501G>T (p.Ala501Ser) c.733G>T (p.Ala245Ser) n.853G>T c.1435G>T (p.Ala479Ser) | |
X | g.53409106C>G | CA413255415 | SMC1A | c.1501G>C (p.Ala501Pro) c.733G>C (p.Ala245Pro) n.853G>C c.1435G>C (p.Ala479Pro) | |
X | g.53409106C>T | CA413255416 | SMC1A | c.1501G>A (p.Ala501Thr) c.733G>A (p.Ala245Thr) n.853G>A c.1435G>A (p.Ala479Thr) | gnomAD v4 |
X | g.53409107C>A | CA413255421 | SMC1A | c.1500G>T (p.Lys500Asn) c.732G>T (p.Lys244Asn) n.852G>T c.1434G>T (p.Lys478Asn) | |
X | g.53409107C>G | CA413255419 | SMC1A | c.1500G>C (p.Lys500Asn) c.732G>C (p.Lys244Asn) n.852G>C c.1434G>C (p.Lys478Asn) | |
X | g.53409107C>T | CA516561496 | SMC1A | c.1500G>A (p.Lys500=) c.732G>A (p.Lys244=) n.852G>A c.1434G>A (p.Lys478=) | |
X | g.53409108T>A | CA413255423 | SMC1A | c.1499A>T (p.Lys500Met) c.731A>T (p.Lys244Met) n.851A>T c.1433A>T (p.Lys478Met) | |
X | g.53409108T>C | CA413255425 | SMC1A | c.1499A>G (p.Lys500Arg) c.731A>G (p.Lys244Arg) n.851A>G c.1433A>G (p.Lys478Arg) | |
X | g.53409108T>G | CA413255427 | SMC1A | c.1499A>C (p.Lys500Thr) c.731A>C (p.Lys244Thr) n.851A>C c.1433A>C (p.Lys478Thr) | COSMIC |
X | g.53409109T>A | CA413255429 | SMC1A | c.1498A>T (p.Lys500Ter) c.730A>T (p.Lys244Ter) n.850A>T c.1432A>T (p.Lys478Ter) | |
X | g.53409109T>C | CA413255431 | SMC1A | c.1498A>G (p.Lys500Glu) c.730A>G (p.Lys244Glu) n.850A>G c.1432A>G (p.Lys478Glu) | |
X | g.53409109T>G | CA413255433 | SMC1A | c.1498A>C (p.Lys500Gln) c.730A>C (p.Lys244Gln) n.850A>C c.1432A>C (p.Lys478Gln) | |
X | g.53409110T>A | CA516561512 | SMC1A | c.1497A>T (p.Arg499=) c.729A>T (p.Arg243=) n.849A>T c.1431A>T (p.Arg477=) | |
X | g.53409110T>C | CA516561515 | SMC1A | c.1497A>G (p.Arg499=) c.729A>G (p.Arg243=) n.849A>G c.1431A>G (p.Arg477=) | |
X | g.53409110T>G | CA516561518 | SMC1A | c.1497A>C (p.Arg499=) c.729A>C (p.Arg243=) n.849A>C c.1431A>C (p.Arg477=) | ClinVar dbSNP |
X | g.53409111C>A | CA413255435 | SMC1A | c.1496G>T (p.Arg499Leu) c.728G>T (p.Arg243Leu) n.848G>T c.1430G>T (p.Arg477Leu) | |
X | g.53409111C= | CA2429826517 | SMC1A | c.1496G= (p.Arg499=) c.728G= (p.Arg243=) n.848G= c.1430G= (p.Arg477=) | |
X | g.53409111C>G | CA413255437 | SMC1A | c.1496G>C (p.Arg499Pro) c.728G>C (p.Arg243Pro) n.848G>C c.1430G>C (p.Arg477Pro) | |
X | g.53409111C>T | CA413255439 | SMC1A | c.1496G>A (p.Arg499Gln) c.728G>A (p.Arg243Gln) n.848G>A c.1430G>A (p.Arg477Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53409112G>A | CA413255441 | SMC1A | c.1495C>T (p.Arg499Ter) c.727C>T (p.Arg243Ter) n.847C>T c.1429C>T (p.Arg477Ter) | ClinVar dbSNP |
X | g.53409112G>C | CA413255443 | SMC1A | c.1495C>G (p.Arg499Gly) c.727C>G (p.Arg243Gly) n.847C>G c.1429C>G (p.Arg477Gly) | |
X | g.53409112G= | CA2429826522 | SMC1A | c.1495C= (p.Arg499=) c.727C= (p.Arg243=) n.847C= c.1429C= (p.Arg477=) | |
X | g.53409112G>T | CA516561530 | SMC1A | c.1495C>A (p.Arg499=) c.727C>A (p.Arg243=) n.847C>A c.1429C>A (p.Arg477=) | gnomAD v4 |
X | g.53409113C>A | CA413255445 | SMC1A | c.1494G>T (p.Gln498His) c.726G>T (p.Gln242His) n.846G>T c.1428G>T (p.Gln476His) | |
X | g.53409113C>G | CA413255446 | SMC1A | c.1494G>C (p.Gln498His) c.726G>C (p.Gln242His) n.846G>C c.1428G>C (p.Gln476His) | |
X | g.53409113C>T | CA516561541 | SMC1A | c.1494G>A (p.Gln498=) c.726G>A (p.Gln242=) n.846G>A c.1428G>A (p.Gln476=) | |
X | g.53409114T>A | CA413255449 | SMC1A | c.1493A>T (p.Gln498Leu) c.725A>T (p.Gln242Leu) n.845A>T c.1427A>T (p.Gln476Leu) | |
X | g.53409114T>C | CA413255448 | SMC1A | c.1493A>G (p.Gln498Arg) c.725A>G (p.Gln242Arg) n.845A>G c.1427A>G (p.Gln476Arg) | |
X | g.53409114T>G | CA413255447 | SMC1A | c.1493A>C (p.Gln498Pro) c.725A>C (p.Gln242Pro) n.845A>C c.1427A>C (p.Gln476Pro) | |
X | g.53409115G>A | CA413255450 | SMC1A | c.1492C>T (p.Gln498Ter) c.724C>T (p.Gln242Ter) n.844C>T c.1426C>T (p.Gln476Ter) | |
X | g.53409115G>C | CA413255451 | SMC1A | c.1492C>G (p.Gln498Glu) c.724C>G (p.Gln242Glu) n.844C>G c.1426C>G (p.Gln476Glu) | |
X | g.53409115G>T | CA413255452 | SMC1A | c.1492C>A (p.Gln498Lys) c.724C>A (p.Gln242Lys) n.844C>A c.1426C>A (p.Gln476Lys) | |
X | g.53409116C>A | CA413255453 | SMC1A | c.1491G>T (p.Gln497His) c.723G>T (p.Gln241His) n.843G>T c.1425G>T (p.Gln475His) | |
X | g.53409116C>G | CA413255454 | SMC1A | c.1491G>C (p.Gln497His) c.723G>C (p.Gln241His) n.843G>C c.1425G>C (p.Gln475His) | |
X | g.53409116C>T | CA516561567 | SMC1A | c.1491G>A (p.Gln497=) c.723G>A (p.Gln241=) n.843G>A c.1425G>A (p.Gln475=) | |
X | g.53409117T>A | CA413255455 | SMC1A | c.1490A>T (p.Gln497Leu) c.722A>T (p.Gln241Leu) n.842A>T c.1424A>T (p.Gln475Leu) | |
X | g.53409117T>C | CA413255456 | SMC1A | c.1490A>G (p.Gln497Arg) c.722A>G (p.Gln241Arg) n.842A>G c.1424A>G (p.Gln475Arg) | ClinVar |
X | g.53409117T>G | CA413255457 | SMC1A | c.1490A>C (p.Gln497Pro) c.722A>C (p.Gln241Pro) n.842A>C c.1424A>C (p.Gln475Pro) | |
X | g.53409118G>A | CA413255458 | SMC1A | c.1489C>T (p.Gln497Ter) c.721C>T (p.Gln241Ter) n.841C>T c.1423C>T (p.Gln475Ter) | |
X | g.53409118G>C | CA413255459 | SMC1A | c.1489C>G (p.Gln497Glu) c.721C>G (p.Gln241Glu) n.841C>G c.1423C>G (p.Gln475Glu) | |
X | g.53409118G>T | CA413255460 | SMC1A | c.1489C>A (p.Gln497Lys) c.721C>A (p.Gln241Lys) n.841C>A c.1423C>A (p.Gln475Lys) | |
X | g.53409119G>A | CA516561593 | SMC1A | c.1488C>T (p.Arg496=) c.720C>T (p.Arg240=) n.840C>T c.1422C>T (p.Arg474=) | |
X | g.53409119G>C | CA516561585 | SMC1A | c.1488C>G (p.Arg496=) c.720C>G (p.Arg240=) n.840C>G c.1422C>G (p.Arg474=) | |
X | g.53409119G>T | CA516561588 | SMC1A | c.1488C>A (p.Arg496=) c.720C>A (p.Arg240=) n.840C>A c.1422C>A (p.Arg474=) | ClinVar |
X | g.53409120C>A | CA413255461 | SMC1A | c.1487G>T (p.Arg496Leu) c.719G>T (p.Arg240Leu) n.839G>T c.1421G>T (p.Arg474Leu) | |
X | g.53409120C= | CA2429826528 | SMC1A | c.1487G= (p.Arg496=) c.719G= (p.Arg240=) n.839G= c.1421G= (p.Arg474=) | |
X | g.53409120C>G | CA413255462 | SMC1A | c.1487G>C (p.Arg496Pro) c.719G>C (p.Arg240Pro) n.839G>C c.1421G>C (p.Arg474Pro) | |
X | g.53409120C>T | CA255969 | SMC1A | c.1487G>A (p.Arg496His) c.719G>A (p.Arg240His) n.839G>A c.1421G>A (p.Arg474His) | ClinVar dbSNP |
X | g.53409121G>A | CA413255464 | SMC1A | c.1486C>T (p.Arg496Cys) c.718C>T (p.Arg240Cys) n.838C>T c.1420C>T (p.Arg474Cys) | ClinVar dbSNP COSMIC |
X | g.53409121G>C | CA413255465 | SMC1A | c.1486C>G (p.Arg496Gly) c.718C>G (p.Arg240Gly) n.838C>G c.1420C>G (p.Arg474Gly) | |
X | g.53409121G= | CA2429826535 | SMC1A | c.1486C= (p.Arg496=) c.718C= (p.Arg240=) n.838C= c.1420C= (p.Arg474=) | |
X | g.53409121G>T | CA413255463 | SMC1A | c.1486C>A (p.Arg496Ser) c.718C>A (p.Arg240Ser) n.838C>A c.1420C>A (p.Arg474Ser) | |
X | g.53409122G>A | CA516561626 | SMC1A | c.1485C>T (p.Ser495=) c.717C>T (p.Ser239=) n.837C>T c.1419C>T (p.Ser473=) | |
X | g.53409122G>C | CA413255466 | SMC1A | c.1485C>G (p.Ser495Arg) c.717C>G (p.Ser239Arg) n.837C>G c.1419C>G (p.Ser473Arg) | |
X | g.53409122G>T | CA413255467 | SMC1A | c.1485C>A (p.Ser495Arg) c.717C>A (p.Ser239Arg) n.837C>A c.1419C>A (p.Ser473Arg) | |
X | g.53409123C>A | CA413255468 | SMC1A | c.1484G>T (p.Ser495Ile) c.716G>T (p.Ser239Ile) n.836G>T c.1418G>T (p.Ser473Ile) | |
X | g.53409123C>G | CA413255469 | SMC1A | c.1484G>C (p.Ser495Thr) c.716G>C (p.Ser239Thr) n.836G>C c.1418G>C (p.Ser473Thr) | |
X | g.53409123C>T | CA413255470 | SMC1A | c.1484G>A (p.Ser495Asn) c.716G>A (p.Ser239Asn) n.836G>A c.1418G>A (p.Ser473Asn) | |
X | g.53409124T>A | CA413255471 | SMC1A | c.1483A>T (p.Ser495Cys) c.715A>T (p.Ser239Cys) n.835A>T c.1417A>T (p.Ser473Cys) | |
X | g.53409124T>C | CA413255472 | SMC1A | c.1483A>G (p.Ser495Gly) c.715A>G (p.Ser239Gly) n.835A>G c.1417A>G (p.Ser473Gly) | |
X | g.53409124T>G | CA413255473 | SMC1A | c.1483A>C (p.Ser495Arg) c.715A>C (p.Ser239Arg) n.835A>C c.1417A>C (p.Ser473Arg) | |
X | g.53409125G>A | CA516561655 | SMC1A | c.1482C>T (p.Ser494=) c.714C>T (p.Ser238=) n.834C>T c.1416C>T (p.Ser472=) | |
X | g.53409125G>C | CA413255474 | SMC1A | c.1482C>G (p.Ser494Arg) c.714C>G (p.Ser238Arg) n.834C>G c.1416C>G (p.Ser472Arg) | |
X | g.53409125G>T | CA413255475 | SMC1A | c.1482C>A (p.Ser494Arg) c.714C>A (p.Ser238Arg) n.834C>A c.1416C>A (p.Ser472Arg) | |
X | g.53409126C>A | CA413255476 | SMC1A | c.1481G>T (p.Ser494Ile) c.713G>T (p.Ser238Ile) n.833G>T c.1415G>T (p.Ser472Ile) | |
X | g.53409126C>G | CA413255477 | SMC1A | c.1481G>C (p.Ser494Thr) c.713G>C (p.Ser238Thr) n.833G>C c.1415G>C (p.Ser472Thr) | |
X | g.53409126C>T | CA413255478 | SMC1A | c.1481G>A (p.Ser494Asn) c.713G>A (p.Ser238Asn) n.833G>A c.1415G>A (p.Ser472Asn) | |
X | g.53409127T>A | CA413255479 | SMC1A | c.1480A>T (p.Ser494Cys) c.712A>T (p.Ser238Cys) n.832A>T c.1414A>T (p.Ser472Cys) | |
X | g.53409127T>C | CA413255481 | SMC1A | c.1480A>G (p.Ser494Gly) c.712A>G (p.Ser238Gly) n.832A>G c.1414A>G (p.Ser472Gly) | |
X | g.53409127T>G | CA413255480 | SMC1A | c.1480A>C (p.Ser494Arg) c.712A>C (p.Ser238Arg) n.832A>C c.1414A>C (p.Ser472Arg) | |
X | g.53409128C>A | CA413255482 | SMC1A | c.1479G>T (p.Glu493Asp) c.711G>T (p.Glu237Asp) n.831G>T c.1413G>T (p.Glu471Asp) | |
X | g.53409128C= | CA2429826542 | SMC1A | c.1479G= (p.Glu493=) c.711G= (p.Glu237=) n.831G= c.1413G= (p.Glu471=) | |
X | g.53409128C>G | CA413255483 | SMC1A | c.1479G>C (p.Glu493Asp) c.711G>C (p.Glu237Asp) n.831G>C c.1413G>C (p.Glu471Asp) | |
X | g.53409128C>T | CA10420552 | SMC1A | c.1479G>A (p.Glu493=) c.711G>A (p.Glu237=) n.831G>A c.1413G>A (p.Glu471=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53409129T>A | CA413255484 | SMC1A | c.1478A>T (p.Glu493Val) c.710A>T (p.Glu237Val) n.830A>T c.1412A>T (p.Glu471Val) | |
X | g.53409129T>C | CA413255485 | SMC1A | c.1478A>G (p.Glu493Gly) c.710A>G (p.Glu237Gly) n.830A>G c.1412A>G (p.Glu471Gly) | |
X | g.53409129T>G | CA255965 | SMC1A | c.1478A>C (p.Glu493Ala) c.710A>C (p.Glu237Ala) n.830A>C c.1412A>C (p.Glu471Ala) | ClinVar dbSNP |
X | g.53409129T= | CA2429826546 | SMC1A | c.1478A= (p.Glu493=) c.710A= (p.Glu237=) n.830A= c.1412A= (p.Glu471=) | |
X | g.53409130C>A | CA413255486 | SMC1A | c.1477G>T (p.Glu493Ter) c.709G>T (p.Glu237Ter) n.829G>T c.1411G>T (p.Glu471Ter) | |
X | g.53409130C>G | CA413255487 | SMC1A | c.1477G>C (p.Glu493Gln) c.709G>C (p.Glu237Gln) n.829G>C c.1411G>C (p.Glu471Gln) | |
X | g.53409130C>T | CA413255488 | SMC1A | c.1477G>A (p.Glu493Lys) c.709G>A (p.Glu237Lys) n.829G>A c.1411G>A (p.Glu471Lys) | COSMIC |
X | g.53409131C>A | CA413255489 | SMC1A | c.1476G>T (p.Gln492His) c.708G>T (p.Gln236His) n.828G>T c.1410G>T (p.Gln470His) | |
X | g.53409131C>G | CA413255490 | SMC1A | c.1476G>C (p.Gln492His) c.708G>C (p.Gln236His) n.828G>C c.1410G>C (p.Gln470His) | |
X | g.53409131C>T | CA516561677 | SMC1A | c.1476G>A (p.Gln492=) c.708G>A (p.Gln236=) n.828G>A c.1410G>A (p.Gln470=) | |
X | g.53409132T>A | CA413255492 | SMC1A | c.1475A>T (p.Gln492Leu) c.707A>T (p.Gln236Leu) n.827A>T c.1409A>T (p.Gln470Leu) | |
X | g.53409132T>C | CA413255493 | SMC1A | c.1475A>G (p.Gln492Arg) c.707A>G (p.Gln236Arg) n.827A>G c.1409A>G (p.Gln470Arg) | ClinVar dbSNP |
X | g.53409132T>G | CA413255491 | SMC1A | c.1475A>C (p.Gln492Pro) c.707A>C (p.Gln236Pro) n.827A>C c.1409A>C (p.Gln470Pro) | |
X | g.53409132T= | CA2429826554 | SMC1A | c.1475A= (p.Gln492=) c.707A= (p.Gln236=) n.827A= c.1409A= (p.Gln470=) | |
X | g.53409133G>A | CA413255494 | SMC1A | c.1474C>T (p.Gln492Ter) c.706C>T (p.Gln236Ter) n.826C>T c.1408C>T (p.Gln470Ter) | |
X | g.53409133G>C | CA413255495 | SMC1A | c.1474C>G (p.Gln492Glu) c.706C>G (p.Gln236Glu) n.826C>G c.1408C>G (p.Gln470Glu) | |
X | g.53409133G>T | CA413255496 | SMC1A | c.1474C>A (p.Gln492Lys) c.706C>A (p.Gln236Lys) n.826C>A c.1408C>A (p.Gln470Lys) | |
X | g.53409134G>A | CA516561687 | SMC1A | c.1473C>T (p.Arg491=) c.705C>T (p.Arg235=) n.825C>T c.1407C>T (p.Arg469=) | |
X | g.53409134G>C | CA516561688 | SMC1A | c.1473C>G (p.Arg491=) c.705C>G (p.Arg235=) n.825C>G c.1407C>G (p.Arg469=) | |
X | g.53409134G>T | CA516561691 | SMC1A | c.1473C>A (p.Arg491=) c.705C>A (p.Arg235=) n.825C>A c.1407C>A (p.Arg469=) | |
X | g.53409135C>A | CA413255497 | SMC1A | c.1472G>T (p.Arg491Leu) c.704G>T (p.Arg235Leu) n.824G>T c.1406G>T (p.Arg469Leu) | |
X | g.53409135C= | CA2429826557 | SMC1A | c.1472G= (p.Arg491=) c.704G= (p.Arg235=) n.824G= c.1406G= (p.Arg469=) | |
X | g.53409135C>G | CA413255498 | SMC1A | c.1472G>C (p.Arg491Pro) c.704G>C (p.Arg235Pro) n.824G>C c.1406G>C (p.Arg469Pro) | |
X | g.53409135C>T | CA413255499 | SMC1A | c.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 |
X | g.53409136G>A | CA413255502 | SMC1A | c.1471C>T (p.Arg491Cys) c.703C>T (p.Arg235Cys) n.823C>T c.1405C>T (p.Arg469Cys) | gnomAD v4 |
X | g.53409136G>C | CA413255500 | SMC1A | c.1471C>G (p.Arg491Gly) c.703C>G (p.Arg235Gly) n.823C>G c.1405C>G (p.Arg469Gly) | |
X | g.53409136G>T | CA413255501 | SMC1A | c.1471C>A (p.Arg491Ser) c.703C>A (p.Arg235Ser) n.823C>A c.1405C>A (p.Arg469Ser) | |
X | g.53409137G>A | CA516561706 | SMC1A | c.1470C>T (p.Asp490=) c.702C>T (p.Asp234=) n.822C>T c.1404C>T (p.Asp468=) | |
X | g.53409137G>C | CA413255503 | SMC1A | c.1470C>G (p.Asp490Glu) c.702C>G (p.Asp234Glu) n.822C>G c.1404C>G (p.Asp468Glu) | |
X | g.53409137G>T | CA413255504 | SMC1A | c.1470C>A (p.Asp490Glu) c.702C>A (p.Asp234Glu) n.822C>A c.1404C>A (p.Asp468Glu) | gnomAD v4 |
X | g.53409138T>A | CA413255505 | SMC1A | c.1469A>T (p.Asp490Val) c.701A>T (p.Asp234Val) n.821A>T c.1403A>T (p.Asp468Val) | |
X | g.53409138T>C | CA413255506 | SMC1A | c.1469A>G (p.Asp490Gly) c.701A>G (p.Asp234Gly) n.821A>G c.1403A>G (p.Asp468Gly) | |
X | g.53409138T>G | CA413255507 | SMC1A | c.1469A>C (p.Asp490Ala) c.701A>C (p.Asp234Ala) n.821A>C c.1403A>C (p.Asp468Ala) | |
X | g.53409139C>A | CA413255510 | SMC1A | c.1468G>T (p.Asp490Tyr) c.700G>T (p.Asp234Tyr) n.820G>T c.1402G>T (p.Asp468Tyr) | |
X | g.53409139C>G | CA413255508 | SMC1A | c.1468G>C (p.Asp490His) c.700G>C (p.Asp234His) n.820G>C c.1402G>C (p.Asp468His) | |
X | g.53409139C>T | CA413255509 | SMC1A | c.1468G>A (p.Asp490Asn) c.700G>A (p.Asp234Asn) n.820G>A c.1402G>A (p.Asp468Asn) | |
X | g.53409140G>A | CA10420553 | SMC1A | c.1467C>T (p.Ile489=) c.699C>T (p.Ile233=) n.819C>T c.1401C>T (p.Ile467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53409140G>C | CA413255511 | SMC1A | c.1467C>G (p.Ile489Met) c.699C>G (p.Ile233Met) n.819C>G c.1401C>G (p.Ile467Met) | |
X | g.53409140G= | CA2429826559 | SMC1A | c.1467C= (p.Ile489=) c.699C= (p.Ile233=) n.819C= c.1401C= (p.Ile467=) | |
X | g.53409140G>T | CA516561731 | SMC1A | c.1467C>A (p.Ile489=) c.699C>A (p.Ile233=) n.819C>A c.1401C>A (p.Ile467=) | |
X | g.53409141A>C | CA413255512 | SMC1A | c.1466T>G (p.Ile489Ser) c.698T>G (p.Ile233Ser) n.818T>G c.1400T>G (p.Ile467Ser) | |
X | g.53409141A>G | CA413255513 | SMC1A | c.1466T>C (p.Ile489Thr) c.698T>C (p.Ile233Thr) n.818T>C c.1400T>C (p.Ile467Thr) | |
X | g.53409141A>T | CA413255514 | SMC1A | c.1466T>A (p.Ile489Asn) c.698T>A (p.Ile233Asn) n.818T>A c.1400T>A (p.Ile467Asn) | |
X | g.53409142T>A | CA413255517 | SMC1A | c.1465A>T (p.Ile489Phe) c.697A>T (p.Ile233Phe) n.817A>T c.1399A>T (p.Ile467Phe) | |
X | g.53409142T>C | CA413255516 | SMC1A | c.1465A>G (p.Ile489Val) c.697A>G (p.Ile233Val) n.817A>G c.1399A>G (p.Ile467Val) | dbSNP |
X | g.53409142T>G | CA413255515 | SMC1A | c.1465A>C (p.Ile489Leu) c.697A>C (p.Ile233Leu) n.817A>C c.1399A>C (p.Ile467Leu) | |
X | g.53409142T= | CA2429826562 | SMC1A | c.1465A= (p.Ile489=) c.697A= (p.Ile233=) n.817A= c.1399A= (p.Ile467=) | |
X | g.53409143G>A | CA516561746 | SMC1A | c.1464C>T (p.Arg488=) c.696C>T (p.Arg232=) n.816C>T c.1398C>T (p.Arg466=) | |
X | g.53409143G>C | CA516561748 | SMC1A | c.1464C>G (p.Arg488=) c.696C>G (p.Arg232=) n.816C>G c.1398C>G (p.Arg466=) | |
X | g.53409143G>T | CA516561751 | SMC1A | c.1464C>A (p.Arg488=) c.696C>A (p.Arg232=) n.816C>A c.1398C>A (p.Arg466=) | |
X | g.53409144C>A | CA413255518 | SMC1A | c.1463G>T (p.Arg488Leu) c.695G>T (p.Arg232Leu) n.815G>T c.1397G>T (p.Arg466Leu) | |
X | g.53409144C>G | CA413255519 | SMC1A | c.1463G>C (p.Arg488Pro) c.695G>C (p.Arg232Pro) n.815G>C c.1397G>C (p.Arg466Pro) | |
X | g.53409144C>T | CA413255520 | SMC1A | c.1463G>A (p.Arg488His) c.695G>A (p.Arg232His) n.815G>A c.1397G>A (p.Arg466His) | COSMIC |
X | g.53409145G>A | CA413255521 | SMC1A | c.1462C>T (p.Arg488Cys) c.694C>T (p.Arg232Cys) n.814C>T c.1396C>T (p.Arg466Cys) | gnomAD v4 |
X | g.53409145G>C | CA413255522 | SMC1A | c.1462C>G (p.Arg488Gly) c.694C>G (p.Arg232Gly) n.814C>G c.1396C>G (p.Arg466Gly) | |
X | g.53409145G>T | CA413255523 | SMC1A | c.1462C>A (p.Arg488Ser) c.694C>A (p.Arg232Ser) n.814C>A c.1396C>A (p.Arg466Ser) | |
X | g.53409146G>A | CA516561769 | SMC1A | c.1461C>T (p.Ala487=) c.693C>T (p.Ala231=) n.813C>T c.1395C>T (p.Ala465=) | COSMIC |
X | g.53409146G>C | CA516561767 | SMC1A | c.1461C>G (p.Ala487=) c.693C>G (p.Ala231=) n.813C>G c.1395C>G (p.Ala465=) | |
X | g.53409146G>T | CA516561764 | SMC1A | c.1461C>A (p.Ala487=) c.693C>A (p.Ala231=) n.813C>A c.1395C>A (p.Ala465=) | |
X | g.53409147G>A | CA413255524 | SMC1A | c.1460C>T (p.Ala487Val) c.692C>T (p.Ala231Val) n.812C>T c.1394C>T (p.Ala465Val) | |
X | g.53409147G>C | CA413255526 | SMC1A | c.1460C>G (p.Ala487Gly) c.692C>G (p.Ala231Gly) n.812C>G c.1394C>G (p.Ala465Gly) | |
X | g.53409147G>T | CA413255525 | SMC1A | c.1460C>A (p.Ala487Asp) c.692C>A (p.Ala231Asp) n.812C>A c.1394C>A (p.Ala465Asp) | |
X | g.53409148C>A | CA413255527 | SMC1A | c.1459G>T (p.Ala487Ser) c.691G>T (p.Ala231Ser) n.811G>T c.1393G>T (p.Ala465Ser) | |
X | g.53409148C>G | CA413255528 | SMC1A | c.1459G>C (p.Ala487Pro) c.691G>C (p.Ala231Pro) n.811G>C c.1393G>C (p.Ala465Pro) | |
X | g.53409148C>T | CA413255529 | SMC1A | c.1459G>A (p.Ala487Thr) c.691G>A (p.Ala231Thr) n.811G>A c.1393G>A (p.Ala465Thr) | |
X | g.53409149A>C | CA413255530 | SMC1A | c.1458T>G (p.Asp486Glu) c.690T>G (p.Asp230Glu) n.810T>G c.1392T>G (p.Asp464Glu) | |
X | g.53409149A>G | CA516561797 | SMC1A | c.1458T>C (p.Asp486=) c.690T>C (p.Asp230=) n.810T>C c.1392T>C (p.Asp464=) | |
X | g.53409149A>T | CA413255531 | SMC1A | c.1458T>A (p.Asp486Glu) c.690T>A (p.Asp230Glu) n.810T>A c.1392T>A (p.Asp464Glu) | |
X | g.53409150T>A | CA413255533 | SMC1A | c.1457A>T (p.Asp486Val) c.689A>T (p.Asp230Val) n.809A>T c.1391A>T (p.Asp464Val) | |
X | g.53409150T>C | CA272515 | SMC1A | c.1457A>G (p.Asp486Gly) c.689A>G (p.Asp230Gly) n.809A>G c.1391A>G (p.Asp464Gly) | ClinVar dbSNP |
X | g.53409150T>G | CA413255532 | SMC1A | c.1457A>C (p.Asp486Ala) c.689A>C (p.Asp230Ala) n.809A>C c.1391A>C (p.Asp464Ala) | |
X | g.53409150T= | CA2429826567 | SMC1A | c.1457A= (p.Asp486=) c.689A= (p.Asp230=) n.809A= c.1391A= (p.Asp464=) | |
X | g.53409151C>A | CA413255534 | SMC1A | c.1456G>T (p.Asp486Tyr) c.688G>T (p.Asp230Tyr) n.808G>T c.1390G>T (p.Asp464Tyr) | |
X | g.53409151C>G | CA413255535 | SMC1A | c.1456G>C (p.Asp486His) c.688G>C (p.Asp230His) n.808G>C c.1390G>C (p.Asp464His) | |
X | g.53409151C>T | CA413255536 | SMC1A | c.1456G>A (p.Asp486Asn) c.688G>A (p.Asp230Asn) n.808G>A c.1390G>A (p.Asp464Asn) | |
X | g.53409152C>A | CA516561814 | SMC1A | c.1455G>T (p.Gly485=) c.687G>T (p.Gly229=) n.807G>T c.1389G>T (p.Gly463=) | |
X | g.53409152C>G | CA516561818 | SMC1A | c.1455G>C (p.Gly485=) c.687G>C (p.Gly229=) n.807G>C c.1389G>C (p.Gly463=) | |
X | g.53409152C>T | CA516561815 | SMC1A | c.1455G>A (p.Gly485=) c.687G>A (p.Gly229=) n.807G>A c.1389G>A (p.Gly463=) | |
X | g.53409153C>A | CA413255537 | SMC1A | c.1454G>T (p.Gly485Val) c.686G>T (p.Gly229Val) n.806G>T c.1388G>T (p.Gly463Val) | |
X | g.53409153C>G | CA413255538 | SMC1A | c.1454G>C (p.Gly485Ala) c.686G>C (p.Gly229Ala) n.806G>C c.1388G>C (p.Gly463Ala) | |
X | g.53409153C>T | CA413255539 | SMC1A | c.1454G>A (p.Gly485Glu) c.686G>A (p.Gly229Glu) n.806G>A c.1388G>A (p.Gly463Glu) | |
X | g.53409154C>A | CA413255540 | SMC1A | c.1453G>T (p.Gly485Trp) c.685G>T (p.Gly229Trp) n.805G>T c.1387G>T (p.Gly463Trp) | |
X | g.53409154C>G | CA413255542 | SMC1A | c.1453G>C (p.Gly485Arg) c.685G>C (p.Gly229Arg) n.805G>C c.1387G>C (p.Gly463Arg) | |
X | g.53409154C>T | CA413255541 | SMC1A | c.1453G>A (p.Gly485Arg) c.685G>A (p.Gly229Arg) n.805G>A c.1387G>A (p.Gly463Arg) | |
X | g.53409155T>A | CA516561849 | SMC1A | c.1452A>T (p.Leu484=) c.684A>T (p.Leu228=) n.804A>T c.1386A>T (p.Leu462=) | |
X | g.53409155T>C | CA10420554 | SMC1A | c.1452A>G (p.Leu484=) c.684A>G (p.Leu228=) n.804A>G c.1386A>G (p.Leu462=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53409155T>G | CA516561854 | SMC1A | c.1452A>C (p.Leu484=) c.684A>C (p.Leu228=) n.804A>C c.1386A>C (p.Leu462=) | |
X | g.53409155T= | CA2429826571 | SMC1A | c.1452A= (p.Leu484=) c.684A= (p.Leu228=) n.804A= c.1386A= (p.Leu462=) | |
X | g.53409156A>C | CA413255543 | SMC1A | c.1451T>G (p.Leu484Arg) c.683T>G (p.Leu228Arg) n.803T>G c.1385T>G (p.Leu462Arg) | |
X | g.53409156A>G | CA413255544 | SMC1A | c.1451T>C (p.Leu484Pro) c.683T>C (p.Leu228Pro) n.803T>C c.1385T>C (p.Leu462Pro) | |
X | g.53409156A>T | CA413255545 | SMC1A | c.1451T>A (p.Leu484Gln) c.683T>A (p.Leu228Gln) n.803T>A c.1385T>A (p.Leu462Gln) | |
X | g.53409157G>A | CA516561864 | SMC1A | c.1450C>T (p.Leu484=) c.682C>T (p.Leu228=) n.802C>T c.1384C>T (p.Leu462=) | |
X | g.53409157G>C | CA413255546 | SMC1A | c.1450C>G (p.Leu484Val) c.682C>G (p.Leu228Val) n.802C>G c.1384C>G (p.Leu462Val) | |
X | g.53409157G>T | CA413255547 | SMC1A | c.1450C>A (p.Leu484Ile) c.682C>A (p.Leu228Ile) n.802C>A c.1384C>A (p.Leu462Ile) | |
X | g.53409158C>A | CA413255548 | SMC1A | c.1449G>T (p.Gln483His) c.681G>T (p.Gln227His) n.801G>T c.1383G>T (p.Gln461His) | |
X | g.53409158C>G | CA413255549 | SMC1A | c.1449G>C (p.Gln483His) c.681G>C (p.Gln227His) n.801G>C c.1383G>C (p.Gln461His) | |
X | g.53409158C>T | CA516561869 | SMC1A | c.1449G>A (p.Gln483=) c.681G>A (p.Gln227=) n.801G>A c.1383G>A (p.Gln461=) | |
X | g.53409159T>A | CA413255550 | SMC1A | c.1448A>T (p.Gln483Leu) c.680A>T (p.Gln227Leu) n.800A>T c.1382A>T (p.Gln461Leu) | |
X | g.53409159T>C | CA413255551 | SMC1A | c.1448A>G (p.Gln483Arg) c.680A>G (p.Gln227Arg) n.800A>G c.1382A>G (p.Gln461Arg) | |
X | g.53409159T>G | CA413255552 | SMC1A | c.1448A>C (p.Gln483Pro) c.680A>C (p.Gln227Pro) n.800A>C c.1382A>C (p.Gln461Pro) | |
X | g.53409160del | CA2739273512 | SMC1A | c.1447del (p.Gln483SerfsTer2) c.679del (p.Gln227SerfsTer2) n.799del c.1381del (p.Gln461SerfsTer2) | ClinVar |
X | g.53409160G>A | CA413255553 | SMC1A | c.1447C>T (p.Gln483Ter) c.679C>T (p.Gln227Ter) n.799C>T c.1381C>T (p.Gln461Ter) | |
X | g.53409160G>C | CA413255555 | SMC1A | c.1447C>G (p.Gln483Glu) c.679C>G (p.Gln227Glu) n.799C>G c.1381C>G (p.Gln461Glu) | |
X | g.53409160G>T | CA413255554 | SMC1A | c.1447C>A (p.Gln483Lys) c.679C>A (p.Gln227Lys) n.799C>A c.1381C>A (p.Gln461Lys) | gnomAD v4 |
X | g.53409161C>A | CA413255556 | SMC1A | c.1446G>T (p.Glu482Asp) c.678G>T (p.Glu226Asp) n.798G>T c.1380G>T (p.Glu460Asp) | |
X | g.53409161C>G | CA413255557 | SMC1A | c.1446G>C (p.Glu482Asp) c.678G>C (p.Glu226Asp) n.798G>C c.1380G>C (p.Glu460Asp) | |
X | g.53409161C>T | CA516561884 | SMC1A | c.1446G>A (p.Glu482=) c.678G>A (p.Glu226=) n.798G>A c.1380G>A (p.Glu460=) | |
X | g.53409162T>A | CA413255558 | SMC1A | c.1445A>T (p.Glu482Val) c.677A>T (p.Glu226Val) n.797A>T c.1379A>T (p.Glu460Val) | |
X | g.53409162T>C | CA413255559 | SMC1A | c.1445A>G (p.Glu482Gly) c.677A>G (p.Glu226Gly) n.797A>G c.1379A>G (p.Glu460Gly) | |
X | g.53409162T>G | CA413255560 | SMC1A | c.1445A>C (p.Glu482Ala) c.677A>C (p.Glu226Ala) n.797A>C c.1379A>C (p.Glu460Ala) | |
X | g.53409163C>A | CA413255561 | SMC1A | c.1444G>T (p.Glu482Ter) c.676G>T (p.Glu226Ter) n.796G>T c.1378G>T (p.Glu460Ter) | COSMIC |
X | g.53409163C>G | CA413255562 | SMC1A | c.1444G>C (p.Glu482Gln) c.676G>C (p.Glu226Gln) n.796G>C c.1378G>C (p.Glu460Gln) | |
X | g.53409163C>T | CA413255563 | SMC1A | c.1444G>A (p.Glu482Lys) c.676G>A (p.Glu226Lys) n.796G>A c.1378G>A (p.Glu460Lys) | |
X | g.53409164C>A | CA413255564 | SMC1A | c.1443G>T (p.Met481Ile) c.675G>T (p.Met225Ile) n.795G>T c.1377G>T (p.Met459Ile) | |
X | g.53409164C>G | CA413255565 | SMC1A | c.1443G>C (p.Met481Ile) c.675G>C (p.Met225Ile) n.795G>C c.1377G>C (p.Met459Ile) | |
X | g.53409164C>T | CA413255566 | SMC1A | c.1443G>A (p.Met481Ile) c.675G>A (p.Met225Ile) n.795G>A c.1377G>A (p.Met459Ile) | |
X | g.53409165A>C | CA413255567 | SMC1A | c.1442T>G (p.Met481Arg) c.674T>G (p.Met225Arg) n.794T>G c.1376T>G (p.Met459Arg) | |
X | g.53409165A>G | CA413255568 | SMC1A | c.1442T>C (p.Met481Thr) c.674T>C (p.Met225Thr) n.794T>C c.1376T>C (p.Met459Thr) | |
X | g.53409165A>T | CA413255569 | SMC1A | c.1442T>A (p.Met481Lys) c.674T>A (p.Met225Lys) n.794T>A c.1376T>A (p.Met459Lys) | |
X | g.53409166T>A | CA413255572 | SMC1A | c.1441A>T (p.Met481Leu) c.673A>T (p.Met225Leu) n.793A>T c.1375A>T (p.Met459Leu) | |
X | g.53409166T>C | CA413255570 | SMC1A | c.1441A>G (p.Met481Val) c.673A>G (p.Met225Val) n.793A>G c.1375A>G (p.Met459Val) | |
X | g.53409166T>G | CA413255571 | SMC1A | c.1441A>C (p.Met481Leu) c.673A>C (p.Met225Leu) n.793A>C c.1375A>C (p.Met459Leu) | |
X | g.53409167C>A | CA516561903 | SMC1A | c.1440G>T (p.Val480=) c.672G>T (p.Val224=) n.792G>T c.1374G>T (p.Val458=) | |
X | g.53409167C>G | CA516561900 | SMC1A | c.1440G>C (p.Val480=) c.672G>C (p.Val224=) n.792G>C c.1374G>C (p.Val458=) | |
X | g.53409167C>T | CA516561901 | SMC1A | c.1440G>A (p.Val480=) c.672G>A (p.Val224=) n.792G>A c.1374G>A (p.Val458=) | |
X | g.53409168A>C | CA413255573 | SMC1A | c.1439T>G (p.Val480Gly) c.671T>G (p.Val224Gly) n.791T>G c.1373T>G (p.Val458Gly) | |
X | g.53409168A>G | CA413255574 | SMC1A | c.1439T>C (p.Val480Ala) c.671T>C (p.Val224Ala) n.791T>C c.1373T>C (p.Val458Ala) | |
X | g.53409168A>T | CA413255575 | SMC1A | c.1439T>A (p.Val480Glu) c.671T>A (p.Val224Glu) n.791T>A c.1373T>A (p.Val458Glu) |