Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.53409154dup | CA2843207940 | SMC1A | c.1456dup (p.Asp486GlyfsTer?) c.688dup (p.Asp230GlyfsTer?) n.808dup c.1390dup (p.Asp464GlyfsTer?) | |
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) | |
X | g.53409169C>A | CA413255576 | SMC1A | c.1438G>T (p.Val480Leu) c.670G>T (p.Val224Leu) n.790G>T c.1372G>T (p.Val458Leu) | |
X | g.53409169C>G | CA413255577 | SMC1A | c.1438G>C (p.Val480Leu) c.670G>C (p.Val224Leu) n.790G>C c.1372G>C (p.Val458Leu) | |
X | g.53409169C>T | CA413255578 | SMC1A | c.1438G>A (p.Val480Met) c.670G>A (p.Val224Met) n.790G>A c.1372G>A (p.Val458Met) | |
X | g.53409170C>A | CA413255579 | SMC1A | c.1437G>T (p.Gln479His) c.669G>T (p.Gln223His) n.789G>T c.1371G>T (p.Gln457His) | |
X | g.53409170C= | CA2429826575 | SMC1A | c.1437G= (p.Gln479=) c.669G= (p.Gln223=) n.789G= c.1371G= (p.Gln457=) | |
X | g.53409170C>G | CA413255580 | SMC1A | c.1437G>C (p.Gln479His) c.669G>C (p.Gln223His) n.789G>C c.1371G>C (p.Gln457His) | |
X | g.53409170C>T | CA516561912 | SMC1A | c.1437G>A (p.Gln479=) c.669G>A (p.Gln223=) n.789G>A c.1371G>A (p.Gln457=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53409171T>A | CA413255581 | SMC1A | c.1436A>T (p.Gln479Leu) c.668A>T (p.Gln223Leu) n.788A>T c.1370A>T (p.Gln457Leu) | |
X | g.53409171T>C | CA413255582 | SMC1A | c.1436A>G (p.Gln479Arg) c.668A>G (p.Gln223Arg) n.788A>G c.1370A>G (p.Gln457Arg) | |
X | g.53409171T>G | CA413255583 | SMC1A | c.1436A>C (p.Gln479Pro) c.668A>C (p.Gln223Pro) n.788A>C c.1370A>C (p.Gln457Pro) | ClinVar dbSNP |
X | g.53409171T= | CA2429826578 | SMC1A | c.1436A= (p.Gln479=) c.668A= (p.Gln223=) n.788A= c.1370A= (p.Gln457=) | |
X | g.53409172G>A | CA413255585 | SMC1A | c.1435C>T (p.Gln479Ter) c.667C>T (p.Gln223Ter) n.787C>T c.1369C>T (p.Gln457Ter) | |
X | g.53409172G>C | CA413255586 | SMC1A | c.1435C>G (p.Gln479Glu) c.667C>G (p.Gln223Glu) n.787C>G c.1369C>G (p.Gln457Glu) | |
X | g.53409172G>T | CA413255584 | SMC1A | c.1435C>A (p.Gln479Lys) c.667C>A (p.Gln223Lys) n.787C>A c.1369C>A (p.Gln457Lys) | |
X | g.53409173G>A | CA516561922 | SMC1A | c.1434C>T (p.Asn478=) c.666C>T (p.Asn222=) n.786C>T c.1368C>T (p.Asn456=) | COSMIC |
X | g.53409173G>C | CA413255587 | SMC1A | c.1434C>G (p.Asn478Lys) c.666C>G (p.Asn222Lys) n.786C>G c.1368C>G (p.Asn456Lys) | |
X | g.53409173G>T | CA413255588 | SMC1A | c.1434C>A (p.Asn478Lys) c.666C>A (p.Asn222Lys) n.786C>A c.1368C>A (p.Asn456Lys) | |
X | g.53409174T>A | CA413255589 | SMC1A | c.1433A>T (p.Asn478Ile) c.665A>T (p.Asn222Ile) n.785A>T c.1367A>T (p.Asn456Ile) | |
X | g.53409174T>C | CA413255590 | SMC1A | c.1433A>G (p.Asn478Ser) c.665A>G (p.Asn222Ser) n.785A>G c.1367A>G (p.Asn456Ser) | |
X | g.53409174T>G | CA413255591 | SMC1A | c.1433A>C (p.Asn478Thr) c.665A>C (p.Asn222Thr) n.785A>C c.1367A>C (p.Asn456Thr) | |
X | g.53409175T>A | CA413255592 | SMC1A | c.1432A>T (p.Asn478Tyr) c.664A>T (p.Asn222Tyr) n.784A>T c.1366A>T (p.Asn456Tyr) | |
X | g.53409175T>C | CA413255593 | SMC1A | c.1432A>G (p.Asn478Asp) c.664A>G (p.Asn222Asp) n.784A>G c.1366A>G (p.Asn456Asp) | |
X | g.53409175T>G | CA413255594 | SMC1A | c.1432A>C (p.Asn478His) c.664A>C (p.Asn222His) n.784A>C c.1366A>C (p.Asn456His) | |
X | g.53409176C>A | CA516561923 | SMC1A | c.1431G>T (p.Leu477=) c.663G>T (p.Leu221=) n.783G>T c.1365G>T (p.Leu455=) | |
X | g.53409176C= | CA2429826581 | SMC1A | c.1431G= (p.Leu477=) c.663G= (p.Leu221=) n.783G= c.1365G= (p.Leu455=) | |
X | g.53409176C>G | CA516561924 | SMC1A | c.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 |
X | g.53409176C>T | CA516561925 | SMC1A | c.1431G>A (p.Leu477=) c.663G>A (p.Leu221=) n.783G>A c.1365G>A (p.Leu455=) | |
X | g.53409177A>C | CA413255595 | SMC1A | c.1430T>G (p.Leu477Arg) c.662T>G (p.Leu221Arg) n.782T>G c.1364T>G (p.Leu455Arg) | |
X | g.53409177A>G | CA413255596 | SMC1A | c.1430T>C (p.Leu477Pro) c.662T>C (p.Leu221Pro) n.782T>C c.1364T>C (p.Leu455Pro) | |
X | g.53409177A>T | CA413255597 | SMC1A | c.1430T>A (p.Leu477Gln) c.662T>A (p.Leu221Gln) n.782T>A c.1364T>A (p.Leu455Gln) | |
X | g.53409178G>A | CA516561926 | SMC1A | c.1429C>T (p.Leu477=) c.661C>T (p.Leu221=) n.781C>T c.1363C>T (p.Leu455=) | |
X | g.53409178G>C | CA413255598 | SMC1A | c.1429C>G (p.Leu477Val) c.661C>G (p.Leu221Val) n.781C>G c.1363C>G (p.Leu455Val) | |
X | g.53409178G>T | CA413255599 | SMC1A | c.1429C>A (p.Leu477Met) c.661C>A (p.Leu221Met) n.781C>A c.1363C>A (p.Leu455Met) | |
X | g.53409179C>A | CA413255601 | SMC1A | c.1428G>T (p.Glu476Asp) c.660G>T (p.Glu220Asp) n.780G>T c.1362G>T (p.Glu454Asp) | |
X | g.53409179C>G | CA413255600 | SMC1A | c.1428G>C (p.Glu476Asp) c.660G>C (p.Glu220Asp) n.780G>C c.1362G>C (p.Glu454Asp) | |
X | g.53409179C>T | CA516561928 | SMC1A | c.1428G>A (p.Glu476=) c.660G>A (p.Glu220=) n.780G>A c.1362G>A (p.Glu454=) | ClinVar dbSNP gnomAD v4 |
X | g.53409180T>A | CA413255602 | SMC1A | c.1427A>T (p.Glu476Val) c.659A>T (p.Glu220Val) n.779A>T c.1361A>T (p.Glu454Val) | |
X | g.53409180T>C | CA413255603 | SMC1A | c.1427A>G (p.Glu476Gly) c.659A>G (p.Glu220Gly) n.779A>G c.1361A>G (p.Glu454Gly) | |
X | g.53409180T>G | CA413255604 | SMC1A | c.1427A>C (p.Glu476Ala) c.659A>C (p.Glu220Ala) n.779A>C c.1361A>C (p.Glu454Ala) | |
X | g.53409180dup | CA2843207941 | SMC1A | c.1427dup (p.Leu477AlafsTer?) c.659dup (p.Leu221AlafsTer?) n.779dup c.1361dup (p.Leu455AlafsTer?) | |
X | g.53409181C>A | CA413255605 | SMC1A | c.1426G>T (p.Glu476Ter) c.658G>T (p.Glu220Ter) n.778G>T c.1360G>T (p.Glu454Ter) | |
X | g.53409181C= | CA2429826585 | SMC1A | c.1426G= (p.Glu476=) c.658G= (p.Glu220=) n.778G= c.1360G= (p.Glu454=) | |
X | g.53409181C>G | CA413255606 | SMC1A | c.1426G>C (p.Glu476Gln) c.658G>C (p.Glu220Gln) n.778G>C c.1360G>C (p.Glu454Gln) | |
X | g.53409181C>T | CA413255607 | SMC1A | c.1426G>A (p.Glu476Lys) c.658G>A (p.Glu220Lys) n.778G>A c.1360G>A (p.Glu454Lys) | dbSNP |
X | g.53409182C>A | CA413255608 | SMC1A | c.1425G>T (p.Lys475Asn) c.657G>T (p.Lys219Asn) n.777G>T c.1359G>T (p.Lys453Asn) | |
X | g.53409182C= | CA2429826586 | SMC1A | c.1425G= (p.Lys475=) c.657G= (p.Lys219=) n.777G= c.1359G= (p.Lys453=) | |
X | g.53409182C>G | CA413255609 | SMC1A | c.1425G>C (p.Lys475Asn) c.657G>C (p.Lys219Asn) n.777G>C c.1359G>C (p.Lys453Asn) | |
X | g.53409182C>T | CA516561933 | SMC1A | c.1425G>A (p.Lys475=) c.657G>A (p.Lys219=) n.777G>A c.1359G>A (p.Lys453=) | ClinVar dbSNP gnomAD v4 |
X | g.53409183T>A | CA413255610 | SMC1A | c.1424A>T (p.Lys475Met) c.656A>T (p.Lys219Met) n.776A>T c.1358A>T (p.Lys453Met) | |
X | g.53409183T>C | CA413255611 | SMC1A | c.1424A>G (p.Lys475Arg) c.656A>G (p.Lys219Arg) n.776A>G c.1358A>G (p.Lys453Arg) | |
X | g.53409183T>G | CA413255612 | SMC1A | c.1424A>C (p.Lys475Thr) c.656A>C (p.Lys219Thr) n.776A>C c.1358A>C (p.Lys453Thr) | |
X | g.53409184T>A | CA413255613 | SMC1A | c.1423A>T (p.Lys475Ter) c.655A>T (p.Lys219Ter) n.775A>T c.1357A>T (p.Lys453Ter) | |
X | g.53409184T>C | CA413255614 | SMC1A | c.1423A>G (p.Lys475Glu) c.655A>G (p.Lys219Glu) n.775A>G c.1357A>G (p.Lys453Glu) | |
X | g.53409184T>G | CA413255615 | SMC1A | c.1423A>C (p.Lys475Gln) c.655A>C (p.Lys219Gln) n.775A>C c.1357A>C (p.Lys453Gln) | |
X | g.53409185A>C | CA413255616 | SMC1A | c.1422T>G (p.Asn474Lys) c.654T>G (p.Asn218Lys) n.774T>G c.1356T>G (p.Asn452Lys) | |
X | g.53409185A>G | CA516561935 | SMC1A | c.1422T>C (p.Asn474=) c.654T>C (p.Asn218=) n.774T>C c.1356T>C (p.Asn452=) | |
X | g.53409185A>T | CA413255617 | SMC1A | c.1422T>A (p.Asn474Lys) c.654T>A (p.Asn218Lys) n.774T>A c.1356T>A (p.Asn452Lys) | |
X | g.53409186T>A | CA413255618 | SMC1A | c.1421A>T (p.Asn474Ile) c.653A>T (p.Asn218Ile) n.773A>T c.1355A>T (p.Asn452Ile) | |
X | g.53409186T>C | CA413255620 | SMC1A | c.1421A>G (p.Asn474Ser) c.653A>G (p.Asn218Ser) n.773A>G c.1355A>G (p.Asn452Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53409186T>G | CA413255619 | SMC1A | c.1421A>C (p.Asn474Thr) c.653A>C (p.Asn218Thr) n.773A>C c.1355A>C (p.Asn452Thr) | |
X | g.53409186T= | CA2429826587 | SMC1A | c.1421A= (p.Asn474=) c.653A= (p.Asn218=) n.773A= c.1355A= (p.Asn452=) | |
X | g.53409187T>A | CA413255621 | SMC1A | c.1420A>T (p.Asn474Tyr) c.652A>T (p.Asn218Tyr) n.772A>T c.1354A>T (p.Asn452Tyr) | |
X | g.53409187T>C | CA413255623 | SMC1A | c.1420A>G (p.Asn474Asp) c.652A>G (p.Asn218Asp) n.772A>G c.1354A>G (p.Asn452Asp) | |
X | g.53409187T>G | CA413255622 | SMC1A | c.1420A>C (p.Asn474His) c.652A>C (p.Asn218His) n.772A>C c.1354A>C (p.Asn452His) | |
X | g.53409188G>A | CA329907445 | SMC1A | c.1419C>T (p.Ile473=) c.651C>T (p.Ile217=) n.771C>T c.1353C>T (p.Ile451=) | ClinVar dbSNP gnomAD v4 |
X | g.53409188G>C | CA413255624 | SMC1A | c.1419C>G (p.Ile473Met) c.651C>G (p.Ile217Met) n.771C>G c.1353C>G (p.Ile451Met) | |
X | g.53409188G= | CA2429826588 | SMC1A | c.1419C= (p.Ile473=) c.651C= (p.Ile217=) n.771C= c.1353C= (p.Ile451=) | |
X | g.53409188G>T | CA516561939 | SMC1A | c.1419C>A (p.Ile473=) c.651C>A (p.Ile217=) n.771C>A c.1353C>A (p.Ile451=) | |
X | g.53409189A>C | CA413255625 | SMC1A | c.1418T>G (p.Ile473Ser) c.650T>G (p.Ile217Ser) n.770T>G c.1352T>G (p.Ile451Ser) | |
X | g.53409189A>G | CA413255626 | SMC1A | c.1418T>C (p.Ile473Thr) c.650T>C (p.Ile217Thr) n.770T>C c.1352T>C (p.Ile451Thr) | |
X | g.53409189A>T | CA413255627 | SMC1A | c.1418T>A (p.Ile473Asn) c.650T>A (p.Ile217Asn) n.770T>A c.1352T>A (p.Ile451Asn) | |
X | g.53409190T>A | CA413255628 | SMC1A | c.1417A>T (p.Ile473Phe) c.649A>T (p.Ile217Phe) n.769A>T c.1351A>T (p.Ile451Phe) | |
X | g.53409190T>C | CA413255629 | SMC1A | c.1417A>G (p.Ile473Val) c.649A>G (p.Ile217Val) n.769A>G c.1351A>G (p.Ile451Val) | |
X | g.53409190T>G | CA413255630 | SMC1A | c.1417A>C (p.Ile473Leu) c.649A>C (p.Ile217Leu) n.769A>C c.1351A>C (p.Ile451Leu) | gnomAD v4 |
X | g.53409191T>A | CA413255631 | SMC1A | c.1416A>T (p.Glu472Asp) c.648A>T (p.Glu216Asp) n.768A>T c.1350A>T (p.Glu450Asp) | |
X | g.53409191T>C | CA516561941 | SMC1A | c.1416A>G (p.Glu472=) c.648A>G (p.Glu216=) n.768A>G c.1350A>G (p.Glu450=) | |
X | g.53409191T>G | CA413255632 | SMC1A | c.1416A>C (p.Glu472Asp) c.648A>C (p.Glu216Asp) n.768A>C c.1350A>C (p.Glu450Asp) | |
X | g.53409192T>A | CA413255633 | SMC1A | c.1415A>T (p.Glu472Val) c.647A>T (p.Glu216Val) n.767A>T c.1349A>T (p.Glu450Val) | |
X | g.53409192T>C | CA413255634 | SMC1A | c.1415A>G (p.Glu472Gly) c.647A>G (p.Glu216Gly) n.767A>G c.1349A>G (p.Glu450Gly) | |
X | g.53409192T>G | CA413255635 | SMC1A | c.1415A>C (p.Glu472Ala) c.647A>C (p.Glu216Ala) n.767A>C c.1349A>C (p.Glu450Ala) | |
X | g.53409193C>A | CA413255638 | SMC1A | c.1414G>T (p.Glu472Ter) c.646G>T (p.Glu216Ter) n.766G>T c.1348G>T (p.Glu450Ter) | COSMIC |
X | g.53409193C>G | CA413255637 | SMC1A | c.1414G>C (p.Glu472Gln) c.646G>C (p.Glu216Gln) n.766G>C c.1348G>C (p.Glu450Gln) | |
X | g.53409193C>T | CA413255636 | SMC1A | c.1414G>A (p.Glu472Lys) c.646G>A (p.Glu216Lys) n.766G>A c.1348G>A (p.Glu450Lys) | |
X | g.53409194A>C | CA413255639 | SMC1A | c.1413T>G (p.Asp471Glu) c.645T>G (p.Asp215Glu) n.765T>G c.1347T>G (p.Asp449Glu) | |
X | g.53409194A>G | CA516561942 | SMC1A | c.1413T>C (p.Asp471=) c.645T>C (p.Asp215=) n.765T>C c.1347T>C (p.Asp449=) | |
X | g.53409194A>T | CA413255640 | SMC1A | c.1413T>A (p.Asp471Glu) c.645T>A (p.Asp215Glu) n.765T>A c.1347T>A (p.Asp449Glu) | |
X | g.53409195T>A | CA413255641 | SMC1A | c.1412A>T (p.Asp471Val) c.644A>T (p.Asp215Val) n.764A>T c.1346A>T (p.Asp449Val) | |
X | g.53409195T>C | CA413255642 | SMC1A | c.1412A>G (p.Asp471Gly) c.644A>G (p.Asp215Gly) n.764A>G c.1346A>G (p.Asp449Gly) | ClinVar dbSNP |
X | g.53409195T>G | CA413255643 | SMC1A | c.1412A>C (p.Asp471Ala) c.644A>C (p.Asp215Ala) n.764A>C c.1346A>C (p.Asp449Ala) | |
X | g.53409196C>A | CA413255644 | SMC1A | c.1411G>T (p.Asp471Tyr) c.643G>T (p.Asp215Tyr) n.763G>T c.1345G>T (p.Asp449Tyr) | |
X | g.53409196C>G | CA413255645 | SMC1A | c.1411G>C (p.Asp471His) c.643G>C (p.Asp215His) n.763G>C c.1345G>C (p.Asp449His) | |
X | g.53409196C>T | CA413255646 | SMC1A | c.1411G>A (p.Asp471Asn) c.643G>A (p.Asp215Asn) n.763G>A c.1345G>A (p.Asp449Asn) | |
X | g.53409197A= | CA2429826589 | SMC1A | c.1410T= (p.Ile470=) c.642T= (p.Ile214=) n.762T= c.1344T= (p.Ile448=) | |
X | g.53409197A>C | CA413255647 | SMC1A | c.1410T>G (p.Ile470Met) c.642T>G (p.Ile214Met) n.762T>G c.1344T>G (p.Ile448Met) | |
X | g.53409197A>G | CA10420555 | SMC1A | c.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 |
X | g.53409197A>T | CA516561943 | SMC1A | c.1410T>A (p.Ile470=) c.642T>A (p.Ile214=) n.762T>A c.1344T>A (p.Ile448=) | |
X | g.53409198A>C | CA413255648 | SMC1A | c.1409T>G (p.Ile470Ser) c.641T>G (p.Ile214Ser) n.761T>G c.1343T>G (p.Ile448Ser) | |
X | g.53409198A>G | CA413255649 | SMC1A | c.1409T>C (p.Ile470Thr) c.641T>C (p.Ile214Thr) n.761T>C c.1343T>C (p.Ile448Thr) | |
X | g.53409198A>T | CA413255650 | SMC1A | c.1409T>A (p.Ile470Asn) c.641T>A (p.Ile214Asn) n.761T>A c.1343T>A (p.Ile448Asn) | |
X | g.53409199T>A | CA413255652 | SMC1A | c.1408A>T (p.Ile470Phe) c.640A>T (p.Ile214Phe) n.760A>T c.1342A>T (p.Ile448Phe) | |
X | g.53409199T>C | CA10420556 | SMC1A | c.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 |
X | g.53409199T>G | CA413255651 | SMC1A | c.1408A>C (p.Ile470Leu) c.640A>C (p.Ile214Leu) n.760A>C c.1342A>C (p.Ile448Leu) | |
X | g.53409199T= | CA2429826590 | SMC1A | c.1408A= (p.Ile470=) c.640A= (p.Ile214=) n.760A= c.1342A= (p.Ile448=) | |
X | g.53409200A>C | CA516561944 | SMC1A | c.1407T>G (p.Arg469=) c.639T>G (p.Arg213=) n.759T>G c.1341T>G (p.Arg447=) | |
X | g.53409200A>G | CA516561945 | SMC1A | c.1407T>C (p.Arg469=) c.639T>C (p.Arg213=) n.759T>C c.1341T>C (p.Arg447=) | |
X | g.53409200A>T | CA516561946 | SMC1A | c.1407T>A (p.Arg469=) c.639T>A (p.Arg213=) n.759T>A c.1341T>A (p.Arg447=) | |
X | g.53409201C>A | CA413255653 | SMC1A | c.1406G>T (p.Arg469Leu) c.638G>T (p.Arg213Leu) n.758G>T c.1340G>T (p.Arg447Leu) | |
X | g.53409201C= | CA2429826593 | SMC1A | c.1406G= (p.Arg469=) c.638G= (p.Arg213=) n.758G= c.1340G= (p.Arg447=) | |
X | g.53409201C>G | CA413255654 | SMC1A | c.1406G>C (p.Arg469Pro) c.638G>C (p.Arg213Pro) n.758G>C c.1340G>C (p.Arg447Pro) | |
X | g.53409201C>T | CA10420557 | SMC1A | c.1406G>A (p.Arg469His) c.638G>A (p.Arg213His) n.758G>A c.1340G>A (p.Arg447His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53409202G>A | CA413255655 | SMC1A | c.1405C>T (p.Arg469Cys) c.637C>T (p.Arg213Cys) n.757C>T c.1339C>T (p.Arg447Cys) | gnomAD v4 COSMIC |
X | g.53409202G>C | CA413255656 | SMC1A | c.1405C>G (p.Arg469Gly) c.637C>G (p.Arg213Gly) n.757C>G c.1339C>G (p.Arg447Gly) | |
X | g.53409202G>T | CA413255657 | SMC1A | c.1405C>A (p.Arg469Ser) c.637C>A (p.Arg213Ser) n.757C>A c.1339C>A (p.Arg447Ser) | gnomAD v4 |
X | g.53409203C>A | CA516561947 | SMC1A | c.1404G>T (p.Arg468=) c.636G>T (p.Arg212=) n.756G>T c.1338G>T (p.Arg446=) | |
X | g.53409203C>G | CA516561948 | SMC1A | c.1404G>C (p.Arg468=) c.636G>C (p.Arg212=) n.756G>C c.1338G>C (p.Arg446=) | |
X | g.53409203C>T | CA516561949 | SMC1A | c.1404G>A (p.Arg468=) c.636G>A (p.Arg212=) n.756G>A c.1338G>A (p.Arg446=) | ClinVar |
X | g.53409204C>A | CA413255658 | SMC1A | c.1403G>T (p.Arg468Leu) c.635G>T (p.Arg212Leu) n.755G>T c.1337G>T (p.Arg446Leu) | |
X | g.53409204C= | CA2429826596 | SMC1A | c.1403G= (p.Arg468=) c.635G= (p.Arg212=) n.755G= c.1337G= (p.Arg446=) | |
X | g.53409204C>G | CA413255659 | SMC1A | c.1403G>C (p.Arg468Pro) c.635G>C (p.Arg212Pro) n.755G>C c.1337G>C (p.Arg446Pro) | |
X | g.53409204C>T | CA413255660 | SMC1A | c.1403G>A (p.Arg468Gln) c.635G>A (p.Arg212Gln) n.755G>A c.1337G>A (p.Arg446Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53409205G>A | CA413255661 | SMC1A | c.1402C>T (p.Arg468Trp) c.634C>T (p.Arg212Trp) n.754C>T c.1336C>T (p.Arg446Trp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53409205G>C | CA413255662 | SMC1A | c.1402C>G (p.Arg468Gly) c.634C>G (p.Arg212Gly) n.754C>G c.1336C>G (p.Arg446Gly) | |
X | g.53409205G= | CA2429826602 | SMC1A | c.1402C= (p.Arg468=) c.634C= (p.Arg212=) n.754C= c.1336C= (p.Arg446=) | |
X | g.53409205G>T | CA516561950 | SMC1A | c.1402C>A (p.Arg468=) c.634C>A (p.Arg212=) n.754C>A c.1336C>A (p.Arg446=) | ClinVar dbSNP |
X | g.53409206C>A | CA413255664 | SMC1A | c.1401G>T (p.Lys467Asn) c.633G>T (p.Lys211Asn) n.753G>T c.1335G>T (p.Lys445Asn) | |
X | g.53409206C>G | CA413255663 | SMC1A | c.1401G>C (p.Lys467Asn) c.633G>C (p.Lys211Asn) n.753G>C c.1335G>C (p.Lys445Asn) | |
X | g.53409206C>T | CA516561951 | SMC1A | c.1401G>A (p.Lys467=) c.633G>A (p.Lys211=) n.753G>A c.1335G>A (p.Lys445=) | |
X | g.53409207T>A | CA413255665 | SMC1A | c.1400A>T (p.Lys467Met) c.632A>T (p.Lys211Met) n.752A>T c.1334A>T (p.Lys445Met) | |
X | g.53409207T>C | CA413255666 | SMC1A | c.1400A>G (p.Lys467Arg) c.632A>G (p.Lys211Arg) n.752A>G c.1334A>G (p.Lys445Arg) | |
X | g.53409207T>G | CA413255667 | SMC1A | c.1400A>C (p.Lys467Thr) c.632A>C (p.Lys211Thr) n.752A>C c.1334A>C (p.Lys445Thr) | |
X | g.53409208T>A | CA413255668 | SMC1A | c.1399A>T (p.Lys467Ter) c.631A>T (p.Lys211Ter) n.751A>T c.1333A>T (p.Lys445Ter) | |
X | g.53409208T>C | CA413255669 | SMC1A | c.1399A>G (p.Lys467Glu) c.631A>G (p.Lys211Glu) n.751A>G c.1333A>G (p.Lys445Glu) | |
X | g.53409208T>G | CA413255670 | SMC1A | c.1399A>C (p.Lys467Gln) c.631A>C (p.Lys211Gln) n.751A>C c.1333A>C (p.Lys445Gln) | |
X | g.53409209G>A | CA516561952 | SMC1A | c.1398C>T (p.Ala466=) c.630C>T (p.Ala210=) n.750C>T c.1332C>T (p.Ala444=) | |
X | g.53409209G>C | CA516561953 | SMC1A | c.1398C>G (p.Ala466=) c.630C>G (p.Ala210=) n.750C>G c.1332C>G (p.Ala444=) | |
X | g.53409209G>T | CA516561954 | SMC1A | c.1398C>A (p.Ala466=) c.630C>A (p.Ala210=) n.750C>A c.1332C>A (p.Ala444=) | |
X | g.53409210G>A | CA413255671 | SMC1A | c.1397C>T (p.Ala466Val) c.629C>T (p.Ala210Val) n.749C>T c.1331C>T (p.Ala444Val) | |
X | g.53409210G>C | CA413255672 | SMC1A | c.1397C>G (p.Ala466Gly) c.629C>G (p.Ala210Gly) n.749C>G c.1331C>G (p.Ala444Gly) | |
X | g.53409210G>T | CA413255673 | SMC1A | c.1397C>A (p.Ala466Asp) c.629C>A (p.Ala210Asp) n.749C>A c.1331C>A (p.Ala444Asp) | |
X | g.53409211C>A | CA413255674 | SMC1A | c.1396G>T (p.Ala466Ser) c.628G>T (p.Ala210Ser) n.748G>T c.1330G>T (p.Ala444Ser) | ClinVar |
X | g.53409211C>G | CA413255675 | SMC1A | c.1396G>C (p.Ala466Pro) c.628G>C (p.Ala210Pro) n.748G>C c.1330G>C (p.Ala444Pro) | |
X | g.53409211C>T | CA413255676 | SMC1A | c.1396G>A (p.Ala466Thr) c.628G>A (p.Ala210Thr) n.748G>A c.1330G>A (p.Ala444Thr) | |
X | g.53409212C>A | CA413255677 | SMC1A | c.1395G>T (p.Met465Ile) c.627G>T (p.Met209Ile) n.747G>T c.1329G>T (p.Met443Ile) | |
X | g.53409212C= | CA2429826605 | SMC1A | c.1395G= (p.Met465=) c.627G= (p.Met209=) n.747G= c.1329G= (p.Met443=) | |
X | g.53409212C>G | CA413255678 | SMC1A | c.1395G>C (p.Met465Ile) c.627G>C (p.Met209Ile) n.747G>C c.1329G>C (p.Met443Ile) | |
X | g.53409212C>T | CA10420558 | SMC1A | c.1395G>A (p.Met465Ile) c.627G>A (p.Met209Ile) n.747G>A c.1329G>A (p.Met443Ile) | dbSNP ExAC gnomAD v2 |