| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53409043G>A | CA10420551 | SMC1A | c.1545+19C>T (n.1545+19C>T) c.777+19C>T (n.777+19C>T) n.897+19C>T c.1479+19C>T (n.1479+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409043G= | CA2429826488 | SMC1A | c.1545+19C= (n.1545+19C=) c.777+19C= (n.777+19C=) n.897+19C= c.1479+19C= (n.1479+19C=) | |
| X | g.53409043G>T | CA2693805407 | SMC1A | c.1545+19C>A (n.1545+19C>A) c.777+19C>A (n.777+19C>A) n.897+19C>A c.1479+19C>A (n.1479+19C>A) | gnomAD v4 |
| X | g.53409044T>C | CA2429826491 | SMC1A | c.1545+18A>G (n.1545+18A>G) c.777+18A>G (n.777+18A>G) n.897+18A>G c.1479+18A>G (n.1479+18A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.53409044T= | CA2429826490 | SMC1A | c.1545+18A= (n.1545+18A=) c.777+18A= (n.777+18A=) n.897+18A= c.1479+18A= (n.1479+18A=) | |
| X | g.53409046C>G | CA2579615843 | SMC1A | c.1545+16G>C (n.1545+16G>C) c.777+16G>C (n.777+16G>C) n.897+16G>C c.1479+16G>C (n.1479+16G>C) | |
| X | g.53409049T>G | CA2579615844 | SMC1A | c.1545+13A>C (n.1545+13A>C) c.777+13A>C (n.777+13A>C) n.897+13A>C c.1479+13A>C (n.1479+13A>C) | |
| X | g.53409050C>T | CA2559063933 | SMC1A | c.1545+12G>A (n.1545+12G>A) c.777+12G>A (n.777+12G>A) n.897+12G>A c.1479+12G>A (n.1479+12G>A) | |
| X | g.53409051T>C | CA2693805408 | SMC1A | c.1545+11A>G (n.1545+11A>G) c.777+11A>G (n.777+11A>G) n.897+11A>G c.1479+11A>G (n.1479+11A>G) | gnomAD v4 |
| X | g.53409053T>C | CA2499857389 | SMC1A | c.1545+9A>G (n.1545+9A>G) c.777+9A>G (n.777+9A>G) n.897+9A>G c.1479+9A>G (n.1479+9A>G) | |
| X | g.53409054G>A | CA2515033322 | SMC1A | c.1545+8C>T (n.1545+8C>T) c.777+8C>T (n.777+8C>T) n.897+8C>T c.1479+8C>T (n.1479+8C>T) | |
| X | g.53409054G>T | CA2693805409 | SMC1A | c.1545+8C>A (n.1545+8C>A) c.777+8C>A (n.777+8C>A) n.897+8C>A c.1479+8C>A (n.1479+8C>A) | gnomAD v4 |
| X | g.53409055C>A | CA329907442 | SMC1A | c.1545+7G>T (n.1545+7G>T) c.777+7G>T (n.777+7G>T) n.897+7G>T c.1479+7G>T (n.1479+7G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53409055C= | CA2429826493 | SMC1A | c.1545+7G= (n.1545+7G=) c.777+7G= (n.777+7G=) n.897+7G= c.1479+7G= (n.1479+7G=) | |
| X | g.53409057C= | CA2429826496 | SMC1A | c.1545+5G= (n.1545+5G=) c.777+5G= (n.777+5G=) n.897+5G= c.1479+5G= (n.1479+5G=) | |
| X | g.53409057C>T | CA329907443 | SMC1A | c.1545+5G>A (n.1545+5G>A) c.777+5G>A (n.777+5G>A) n.897+5G>A c.1479+5G>A (n.1479+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409058T>G | CA272520 | SMC1A | c.1545+4A>C (n.1545+4A>C) c.777+4A>C (n.777+4A>C) n.897+4A>C c.1479+4A>C (n.1479+4A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53409058T= | CA2429826501 | SMC1A | c.1545+4A= (n.1545+4A=) c.777+4A= (n.777+4A=) n.897+4A= c.1479+4A= (n.1479+4A=) | |
| X | g.53409060A>C | CA413255199 | SMC1A | c.1545+2T>G (n.1545+2T>G) c.777+2T>G (n.777+2T>G) n.897+2T>G c.1479+2T>G (n.1479+2T>G) | |
| X | g.53409060A>G | CA413255202 | SMC1A | c.1545+2T>C (n.1545+2T>C) c.777+2T>C (n.777+2T>C) n.897+2T>C c.1479+2T>C (n.1479+2T>C) | |
| X | g.53409060A>T | CA413255205 | SMC1A | c.1545+2T>A (n.1545+2T>A) c.777+2T>A (n.777+2T>A) n.897+2T>A c.1479+2T>A (n.1479+2T>A) | |
| X | g.53409061C>A | CA413255209 | SMC1A | c.1545+1G>T (n.1545+1G>T) c.777+1G>T (n.777+1G>T) n.897+1G>T c.1479+1G>T (n.1479+1G>T) | |
| X | g.53409061C>G | CA413255216 | SMC1A | c.1545+1G>C (n.1545+1G>C) c.777+1G>C (n.777+1G>C) n.897+1G>C c.1479+1G>C (n.1479+1G>C) | |
| X | g.53409061C>T | CA413255218 | SMC1A | c.1545+1G>A (n.1545+1G>A) c.777+1G>A (n.777+1G>A) n.897+1G>A c.1479+1G>A (n.1479+1G>A) | |
| X | g.53409062C>A | CA516561187 | SMC1A | c.1545G>T (p.Val515=) c.777G>T (p.Val259=) n.897G>T c.1479G>T (p.Val493=) | |
| X | g.53409062C>G | CA516561190 | SMC1A | c.1545G>C (p.Val515=) c.777G>C (p.Val259=) n.897G>C c.1479G>C (p.Val493=) | |
| X | g.53409062C>T | CA516561193 | SMC1A | c.1545G>A (p.Val515=) c.777G>A (p.Val259=) n.897G>A c.1479G>A (p.Val493=) | |
| X | g.53409063A>C | CA413255221 | SMC1A | c.1544T>G (p.Val515Gly) c.776T>G (p.Val259Gly) n.896T>G c.1478T>G (p.Val493Gly) | |
| X | g.53409063A>G | CA413255224 | SMC1A | c.1544T>C (p.Val515Ala) c.776T>C (p.Val259Ala) n.896T>C c.1478T>C (p.Val493Ala) | |
| X | g.53409063A>T | CA413255225 | SMC1A | c.1544T>A (p.Val515Glu) c.776T>A (p.Val259Glu) n.896T>A c.1478T>A (p.Val493Glu) | |
| X | g.53409064C>A | CA413255233 | SMC1A | c.1543G>T (p.Val515Leu) c.775G>T (p.Val259Leu) n.895G>T c.1477G>T (p.Val493Leu) | |
| X | g.53409064C>G | CA413255232 | SMC1A | c.1543G>C (p.Val515Leu) c.775G>C (p.Val259Leu) n.895G>C c.1477G>C (p.Val493Leu) | gnomAD v4 |
| X | g.53409064C>T | CA413255229 | SMC1A | c.1543G>A (p.Val515Met) c.775G>A (p.Val259Met) n.895G>A c.1477G>A (p.Val493Met) | |
| X | g.53409065A>C | CA516561207 | SMC1A | c.1542T>G (p.Ser514=) c.774T>G (p.Ser258=) n.894T>G c.1476T>G (p.Ser492=) | |
| X | g.53409065A>G | CA516561210 | SMC1A | c.1542T>C (p.Ser514=) c.774T>C (p.Ser258=) n.894T>C c.1476T>C (p.Ser492=) | |
| X | g.53409065A>T | CA516561212 | SMC1A | c.1542T>A (p.Ser514=) c.774T>A (p.Ser258=) n.894T>A c.1476T>A (p.Ser492=) | |
| X | g.53409066G>A | CA413255236 | SMC1A | c.1541C>T (p.Ser514Phe) c.773C>T (p.Ser258Phe) n.893C>T c.1475C>T (p.Ser492Phe) | |
| X | g.53409066G>C | CA413255239 | SMC1A | c.1541C>G (p.Ser514Cys) c.773C>G (p.Ser258Cys) n.893C>G c.1475C>G (p.Ser492Cys) | |
| X | g.53409066G>T | CA413255241 | SMC1A | c.1541C>A (p.Ser514Tyr) c.773C>A (p.Ser258Tyr) n.893C>A c.1475C>A (p.Ser492Tyr) | |
| X | g.53409067A>C | CA413255243 | SMC1A | c.1540T>G (p.Ser514Ala) c.772T>G (p.Ser258Ala) n.892T>G c.1474T>G (p.Ser492Ala) | |
| X | g.53409067A>G | CA413255245 | SMC1A | c.1540T>C (p.Ser514Pro) c.772T>C (p.Ser258Pro) n.892T>C c.1474T>C (p.Ser492Pro) | |
| X | g.53409067A>T | CA413255247 | SMC1A | c.1540T>A (p.Ser514Thr) c.772T>A (p.Ser258Thr) n.892T>A c.1474T>A (p.Ser492Thr) | |
| 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=) |