Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133775493T>A | CA354610319 | TF | c.1748T>A (p.Leu583His) c.479T>A n.2742T>A c.1616T>A (p.Leu539His) c.1367T>A (p.Leu456His) | |
3 | g.133775493T>C | CA354610320 | TF | c.1748T>C (p.Leu583Pro) c.479T>C n.2742T>C c.1616T>C (p.Leu539Pro) c.1367T>C (p.Leu456Pro) | |
3 | g.133775493T>G | CA354610321 | TF | c.1748T>G (p.Leu583Arg) c.479T>G n.2742T>G c.1616T>G (p.Leu539Arg) c.1367T>G (p.Leu456Arg) | |
3 | g.133775494T>A | CA435815824 | TF | c.1749T>A (p.Leu583=) c.480T>A n.2743T>A c.1617T>A (p.Leu539=) c.1368T>A (p.Leu456=) | |
3 | g.133775494T>C | CA435815825 | TF | c.1749T>C (p.Leu583=) c.480T>C n.2743T>C c.1617T>C (p.Leu539=) c.1368T>C (p.Leu456=) | |
3 | g.133775494T>G | CA435815826 | TF | c.1749T>G (p.Leu583=) c.480T>G n.2743T>G c.1617T>G (p.Leu539=) c.1368T>G (p.Leu456=) | |
3 | g.133775495G>A | CA354610324 | TF | c.1750G>A (p.Asp584Asn) c.481G>A n.2744G>A c.1618G>A (p.Asp540Asn) c.1369G>A (p.Asp457Asn) | gnomAD v4 |
3 | g.133775495G>C | CA354610322 | TF | c.1750G>C (p.Asp584His) c.481G>C n.2744G>C c.1618G>C (p.Asp540His) c.1369G>C (p.Asp457His) | |
3 | g.133775495G>T | CA354610323 | TF | c.1750G>T (p.Asp584Tyr) c.481G>T n.2744G>T c.1618G>T (p.Asp540Tyr) c.1369G>T (p.Asp457Tyr) | |
3 | g.133775496A= | CA1403122687 | TF | c.1751A= (p.Asp584=) c.482A= n.2745A= c.1619A= (p.Asp540=) c.1370A= (p.Asp457=) | |
3 | g.133775496A>C | CA354610325 | TF | c.1751A>C (p.Asp584Ala) c.482A>C n.2745A>C c.1619A>C (p.Asp540Ala) c.1370A>C (p.Asp457Ala) | |
3 | g.133775496A>G | CA2625406 | TF | c.1751A>G (p.Asp584Gly) c.482A>G n.2745A>G c.1619A>G (p.Asp540Gly) c.1370A>G (p.Asp457Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775496A>T | CA354610326 | TF | c.1751A>T (p.Asp584Val) c.482A>T n.2745A>T c.1619A>T (p.Asp540Val) c.1370A>T (p.Asp457Val) | |
3 | g.133775497T>A | CA354610327 | TF | c.1752T>A (p.Asp584Glu) c.483T>A n.2746T>A c.1620T>A (p.Asp540Glu) c.1371T>A (p.Asp457Glu) | |
3 | g.133775497T>C | CA435815827 | TF | c.1752T>C (p.Asp584=) c.483T>C n.2746T>C c.1620T>C (p.Asp540=) c.1371T>C (p.Asp457=) | |
3 | g.133775497T>G | CA354610328 | TF | c.1752T>G (p.Asp584Glu) c.483T>G n.2746T>G c.1620T>G (p.Asp540Glu) c.1371T>G (p.Asp457Glu) | |
3 | g.133775498G>A | CA83692832 | TF | c.1753G>A (p.Gly585Ser) c.484G>A n.2747G>A c.1621G>A (p.Gly541Ser) c.1372G>A (p.Gly458Ser) | dbSNP gnomAD v4 |
3 | g.133775498G>C | CA354610329 | TF | c.1753G>C (p.Gly585Arg) c.484G>C n.2747G>C c.1621G>C (p.Gly541Arg) c.1372G>C (p.Gly458Arg) | |
3 | g.133775498G= | CA1403122691 | TF | c.1753G= (p.Gly585=) c.484G= n.2747G= c.1621G= (p.Gly541=) c.1372G= (p.Gly458=) | |
3 | g.133775498G>T | CA354610330 | TF | c.1753G>T (p.Gly585Cys) c.484G>T n.2747G>T c.1621G>T (p.Gly541Cys) c.1372G>T (p.Gly458Cys) | |
3 | g.133775499G>A | CA354610331 | TF | c.1754G>A (p.Gly585Asp) c.485G>A n.2748G>A c.1622G>A (p.Gly541Asp) c.1373G>A (p.Gly458Asp) | COSMIC |
3 | g.133775499G>C | CA354610332 | TF | c.1754G>C (p.Gly585Ala) c.485G>C n.2748G>C c.1622G>C (p.Gly541Ala) c.1373G>C (p.Gly458Ala) | |
3 | g.133775499G>T | CA354610333 | TF | c.1754G>T (p.Gly585Val) c.485G>T n.2748G>T c.1622G>T (p.Gly541Val) c.1373G>T (p.Gly458Val) | |
3 | g.133775500T>A | CA435815828 | TF | c.1755T>A (p.Gly585=) c.486T>A n.2749T>A c.1623T>A (p.Gly541=) c.1374T>A (p.Gly458=) | |
3 | g.133775500T>C | CA435815829 | TF | c.1755T>C (p.Gly585=) c.486T>C n.2749T>C c.1623T>C (p.Gly541=) c.1374T>C (p.Gly458=) | |
3 | g.133775500T>G | CA435815830 | TF | c.1755T>G (p.Gly585=) c.486T>G n.2749T>G c.1623T>G (p.Gly541=) c.1374T>G (p.Gly458=) | |
3 | g.133775501A>C | CA354610336 | TF | c.1756A>C (p.Thr586Pro) c.487A>C n.2750A>C c.1624A>C (p.Thr542Pro) c.1375A>C (p.Thr459Pro) | |
3 | g.133775501A>G | CA354610335 | TF | c.1756A>G (p.Thr586Ala) c.487A>G n.2750A>G c.1624A>G (p.Thr542Ala) c.1375A>G (p.Thr459Ala) | |
3 | g.133775501A>T | CA354610334 | TF | c.1756A>T (p.Thr586Ser) c.487A>T n.2750A>T c.1624A>T (p.Thr542Ser) c.1375A>T (p.Thr459Ser) | COSMIC |
3 | g.133775502C>A | CA354610337 | TF | c.1757C>A (p.Thr586Asn) c.488C>A n.2751C>A c.1625C>A (p.Thr542Asn) c.1376C>A (p.Thr459Asn) | |
3 | g.133775502C>G | CA354610338 | TF | c.1757C>G (p.Thr586Ser) c.488C>G n.2751C>G c.1625C>G (p.Thr542Ser) c.1376C>G (p.Thr459Ser) | |
3 | g.133775502C>T | CA354610339 | TF | c.1757C>T (p.Thr586Ile) c.488C>T n.2751C>T c.1625C>T (p.Thr542Ile) c.1376C>T (p.Thr459Ile) | |
3 | g.133775503C>A | CA435815831 | TF | c.1758C>A (p.Thr586=) c.489C>A n.2752C>A c.1626C>A (p.Thr542=) c.1377C>A (p.Thr459=) | |
3 | g.133775503C>G | CA435815832 | TF | c.1758C>G (p.Thr586=) c.489C>G n.2752C>G c.1626C>G (p.Thr542=) c.1377C>G (p.Thr459=) | |
3 | g.133775503C>T | CA435815833 | TF | c.1758C>T (p.Thr586=) c.489C>T n.2752C>T c.1626C>T (p.Thr542=) c.1377C>T (p.Thr459=) | gnomAD v4 |
3 | g.133775504A= | CA1403122698 | TF | c.1759A= (p.Arg587=) c.490A= n.2753A= c.1627A= (p.Arg543=) c.1378A= (p.Arg460=) | |
3 | g.133775504A>C | CA435815834 | TF | c.1759A>C (p.Arg587=) c.490A>C n.2753A>C c.1627A>C (p.Arg543=) c.1378A>C (p.Arg460=) | |
3 | g.133775504A>G | CA354610340 | TF | c.1759A>G (p.Arg587Gly) c.490A>G n.2753A>G c.1627A>G (p.Arg543Gly) c.1378A>G (p.Arg460Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775504A>T | CA354610341 | TF | c.1759A>T (p.Arg587Trp) c.490A>T n.2753A>T c.1627A>T (p.Arg543Trp) c.1378A>T (p.Arg460Trp) | |
3 | g.133775505G>A | CA354610342 | TF | c.1760G>A (p.Arg587Lys) c.491G>A n.2754G>A c.1628G>A (p.Arg543Lys) c.1379G>A (p.Arg460Lys) | |
3 | g.133775505G>C | CA354610343 | TF | c.1760G>C (p.Arg587Thr) c.491G>C n.2754G>C c.1628G>C (p.Arg543Thr) c.1379G>C (p.Arg460Thr) | |
3 | g.133775505G>T | CA354610344 | TF | c.1760G>T (p.Arg587Met) c.491G>T n.2754G>T c.1628G>T (p.Arg543Met) c.1379G>T (p.Arg460Met) | |
3 | g.133775506G>A | CA435815835 | TF | c.1761G>A (p.Arg587=) c.492G>A n.2755G>A c.1629G>A (p.Arg543=) c.1380G>A (p.Arg460=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775506G>C | CA354610345 | TF | c.1761G>C (p.Arg587Ser) c.492G>C n.2755G>C c.1629G>C (p.Arg543Ser) c.1380G>C (p.Arg460Ser) | |
3 | g.133775506G= | CA1403122702 | TF | c.1761G= (p.Arg587=) c.492G= n.2755G= c.1629G= (p.Arg543=) c.1380G= (p.Arg460=) | |
3 | g.133775506G>T | CA354610346 | TF | c.1761G>T (p.Arg587Ser) c.492G>T n.2755G>T c.1629G>T (p.Arg543Ser) c.1380G>T (p.Arg460Ser) | |
3 | g.133775507A>C | CA354610347 | TF | c.1762A>C (p.Lys588Gln) c.493A>C n.2756A>C c.1630A>C (p.Lys544Gln) c.1381A>C (p.Lys461Gln) | |
3 | g.133775507A>G | CA354610348 | TF | c.1762A>G (p.Lys588Glu) c.493A>G n.2756A>G c.1630A>G (p.Lys544Glu) c.1381A>G (p.Lys461Glu) | |
3 | g.133775507A>T | CA354610349 | TF | c.1762A>T (p.Lys588Ter) c.493A>T n.2756A>T c.1630A>T (p.Lys544Ter) c.1381A>T (p.Lys461Ter) | |
3 | g.133775508A>C | CA354610352 | TF | c.1763A>C (p.Lys588Thr) c.494A>C n.2757A>C c.1631A>C (p.Lys544Thr) c.1382A>C (p.Lys461Thr) | |
3 | g.133775508A>G | CA354610351 | TF | c.1763A>G (p.Lys588Arg) c.494A>G n.2757A>G c.1631A>G (p.Lys544Arg) c.1382A>G (p.Lys461Arg) | |
3 | g.133775508A>T | CA354610350 | TF | c.1763A>T (p.Lys588Ile) c.494A>T n.2757A>T c.1631A>T (p.Lys544Ile) c.1382A>T (p.Lys461Ile) | |
3 | g.133775509A= | CA1403122710 | TF | c.1764A= (p.Lys588=) c.495A= n.2758A= c.1632A= (p.Lys544=) c.1383A= (p.Lys461=) | |
3 | g.133775509A>C | CA354610353 | TF | c.1764A>C (p.Lys588Asn) c.495A>C n.2758A>C c.1632A>C (p.Lys544Asn) c.1383A>C (p.Lys461Asn) | |
3 | g.133775509A>G | CA435815836 | TF | c.1764A>G (p.Lys588=) c.495A>G n.2758A>G c.1632A>G (p.Lys544=) c.1383A>G (p.Lys461=) | dbSNP gnomAD v4 |
3 | g.133775509A>T | CA354610354 | TF | c.1764A>T (p.Lys588Asn) c.495A>T n.2758A>T c.1632A>T (p.Lys544Asn) c.1383A>T (p.Lys461Asn) | |
3 | g.133775510C>A | CA354610355 | TF | c.1765C>A (p.Pro589Thr) c.496C>A n.2759C>A c.1633C>A (p.Pro545Thr) c.1384C>A (p.Pro462Thr) | |
3 | g.133775510C= | CA1403122726 | TF | c.1765C= (p.Pro589=) c.496C= n.2759C= c.1633C= (p.Pro545=) c.1384C= (p.Pro462=) | |
3 | g.133775510C>G | CA354610356 | TF | c.1765C>G (p.Pro589Ala) c.496C>G n.2759C>G c.1633C>G (p.Pro545Ala) c.1384C>G (p.Pro462Ala) | dbSNP |
3 | g.133775510C>T | CA122563 | TF | c.1765C>T (p.Pro589Ser) c.496C>T n.2759C>T c.1633C>T (p.Pro545Ser) c.1384C>T (p.Pro462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775511C>A | CA354610357 | TF | c.1766C>A (p.Pro589His) c.497C>A n.2760C>A c.1634C>A (p.Pro545His) c.1385C>A (p.Pro462His) | COSMIC |
3 | g.133775511C= | CA1403122730 | TF | c.1766C= (p.Pro589=) c.497C= n.2760C= c.1634C= (p.Pro545=) c.1385C= (p.Pro462=) | |
3 | g.133775511C>G | CA354610358 | TF | c.1766C>G (p.Pro589Arg) c.497C>G n.2760C>G c.1634C>G (p.Pro545Arg) c.1385C>G (p.Pro462Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775511C>T | CA354610359 | TF | c.1766C>T (p.Pro589Leu) c.497C>T n.2760C>T c.1634C>T (p.Pro545Leu) c.1385C>T (p.Pro462Leu) | |
3 | g.133775512T>A | CA435815837 | TF | c.1767T>A (p.Pro589=) c.498T>A n.2761T>A c.1635T>A (p.Pro545=) c.1386T>A (p.Pro462=) | |
3 | g.133775512T>C | CA435815838 | TF | c.1767T>C (p.Pro589=) c.498T>C n.2761T>C c.1635T>C (p.Pro545=) c.1386T>C (p.Pro462=) | |
3 | g.133775512T>G | CA435815839 | TF | c.1767T>G (p.Pro589=) c.498T>G n.2761T>G c.1635T>G (p.Pro545=) c.1386T>G (p.Pro462=) | |
3 | g.133775513G>A | CA354610360 | TF | c.1768G>A (p.Val590Met) c.499G>A n.2762G>A c.1636G>A (p.Val546Met) c.1387G>A (p.Val463Met) | |
3 | g.133775513G>C | CA354610361 | TF | c.1768G>C (p.Val590Leu) c.499G>C n.2762G>C c.1636G>C (p.Val546Leu) c.1387G>C (p.Val463Leu) | |
3 | g.133775513G>T | CA354610362 | TF | c.1768G>T (p.Val590Leu) c.499G>T n.2762G>T c.1636G>T (p.Val546Leu) c.1387G>T (p.Val463Leu) | |
3 | g.133775514T>A | CA354610363 | TF | c.1769T>A (p.Val590Glu) c.500T>A n.2763T>A c.1637T>A (p.Val546Glu) c.1388T>A (p.Val463Glu) | |
3 | g.133775514T>C | CA354610364 | TF | c.1769T>C (p.Val590Ala) c.500T>C n.2763T>C c.1637T>C (p.Val546Ala) c.1388T>C (p.Val463Ala) | gnomAD v4 |
3 | g.133775514T>G | CA354610365 | TF | c.1769T>G (p.Val590Gly) c.500T>G n.2763T>G c.1637T>G (p.Val546Gly) c.1388T>G (p.Val463Gly) | |
3 | g.133775515G>A | CA435815840 | TF | c.1770G>A (p.Val590=) c.501G>A n.2764G>A c.1638G>A (p.Val546=) c.1389G>A (p.Val463=) | |
3 | g.133775515G>C | CA435815841 | TF | c.1770G>C (p.Val590=) c.501G>C n.2764G>C c.1638G>C (p.Val546=) c.1389G>C (p.Val463=) | |
3 | g.133775515G>T | CA435815842 | TF | c.1770G>T (p.Val590=) c.501G>T n.2764G>T c.1638G>T (p.Val546=) c.1389G>T (p.Val463=) | |
3 | g.133775516G>A | CA354610367 | TF | c.1771G>A (p.Glu591Lys) c.502G>A n.2765G>A c.1639G>A (p.Glu547Lys) c.1390G>A (p.Glu464Lys) | dbSNP gnomAD v4 |
3 | g.133775516G>C | CA354610368 | TF | c.1771G>C (p.Glu591Gln) c.502G>C n.2765G>C c.1639G>C (p.Glu547Gln) c.1390G>C (p.Glu464Gln) | |
3 | g.133775516G>T | CA354610366 | TF | c.1771G>T (p.Glu591Ter) c.502G>T n.2765G>T c.1639G>T (p.Glu547Ter) c.1390G>T (p.Glu464Ter) | |
3 | g.133775517A>C | CA354610369 | TF | c.1772A>C (p.Glu591Ala) c.503A>C n.2766A>C c.1640A>C (p.Glu547Ala) c.1391A>C (p.Glu464Ala) | |
3 | g.133775517A>G | CA354610370 | TF | c.1772A>G (p.Glu591Gly) c.503A>G n.2766A>G c.1640A>G (p.Glu547Gly) c.1391A>G (p.Glu464Gly) | |
3 | g.133775517A>T | CA354610371 | TF | c.1772A>T (p.Glu591Val) c.503A>T n.2766A>T c.1640A>T (p.Glu547Val) c.1391A>T (p.Glu464Val) | |
3 | g.133775518G>A | CA2625407 | TF | c.1773G>A (p.Glu591=) c.504G>A n.2767G>A c.1641G>A (p.Glu547=) c.1392G>A (p.Glu464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775518G>C | CA354610372 | TF | c.1773G>C (p.Glu591Asp) c.504G>C n.2767G>C c.1641G>C (p.Glu547Asp) c.1392G>C (p.Glu464Asp) | |
3 | g.133775518G= | CA1403122734 | TF | c.1773G= (p.Glu591=) c.504G= n.2767G= c.1641G= (p.Glu547=) c.1392G= (p.Glu464=) | |
3 | g.133775518G>T | CA354610373 | TF | c.1773G>T (p.Glu591Asp) c.504G>T n.2767G>T c.1641G>T (p.Glu547Asp) c.1392G>T (p.Glu464Asp) | gnomAD v4 |
3 | g.133775519G>A | CA2625408 | TF | c.1774G>A (p.Glu592Lys) c.505G>A n.2768G>A c.1642G>A (p.Glu548Lys) c.1393G>A (p.Glu465Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775519G>C | CA354610374 | TF | c.1774G>C (p.Glu592Gln) c.505G>C n.2768G>C c.1642G>C (p.Glu548Gln) c.1393G>C (p.Glu465Gln) | gnomAD v4 |
3 | g.133775519G= | CA1403122740 | TF | c.1774G= (p.Glu592=) c.505G= n.2768G= c.1642G= (p.Glu548=) c.1393G= (p.Glu465=) | |
3 | g.133775519G>T | CA354610375 | TF | c.1774G>T (p.Glu592Ter) c.505G>T n.2768G>T c.1642G>T (p.Glu548Ter) c.1393G>T (p.Glu465Ter) | |
3 | g.133775520A= | CA1403122747 | TF | c.1775A= (p.Glu592=) c.506A= n.2769A= c.1643A= (p.Glu548=) c.1394A= (p.Glu465=) | |
3 | g.133775520A>C | CA354610376 | TF | c.1775A>C (p.Glu592Ala) c.506A>C n.2769A>C c.1643A>C (p.Glu548Ala) c.1394A>C (p.Glu465Ala) | gnomAD v4 |
3 | g.133775520A>G | CA354610377 | TF | c.1775A>G (p.Glu592Gly) c.506A>G n.2769A>G c.1643A>G (p.Glu548Gly) c.1394A>G (p.Glu465Gly) | ClinVar |
3 | g.133775520A>T | CA354610378 | TF | c.1775A>T (p.Glu592Val) c.506A>T n.2769A>T c.1643A>T (p.Glu548Val) c.1394A>T (p.Glu465Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775521G>A | CA435815843 | TF | c.1776G>A (p.Glu592=) c.507G>A n.2770G>A c.1644G>A (p.Glu548=) c.1395G>A (p.Glu465=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775521G>C | CA354610380 | TF | c.1776G>C (p.Glu592Asp) c.507G>C n.2770G>C c.1644G>C (p.Glu548Asp) c.1395G>C (p.Glu465Asp) | |
3 | g.133775521G= | CA1403122753 | TF | c.1776G= (p.Glu592=) c.507G= n.2770G= c.1644G= (p.Glu548=) c.1395G= (p.Glu465=) | |
3 | g.133775521G>T | CA354610379 | TF | c.1776G>T (p.Glu592Asp) c.507G>T n.2770G>T c.1644G>T (p.Glu548Asp) c.1395G>T (p.Glu465Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775522T>A | CA354610381 | TF | c.1777T>A (p.Tyr593Asn) c.508T>A n.2771T>A c.1645T>A (p.Tyr549Asn) c.1396T>A (p.Tyr466Asn) | |
3 | g.133775522T>C | CA354610382 | TF | c.1777T>C (p.Tyr593His) c.508T>C n.2771T>C c.1645T>C (p.Tyr549His) c.1396T>C (p.Tyr466His) | gnomAD v4 |
3 | g.133775522T>G | CA354610383 | TF | c.1777T>G (p.Tyr593Asp) c.508T>G n.2771T>G c.1645T>G (p.Tyr549Asp) c.1396T>G (p.Tyr466Asp) | |
3 | g.133775523A>C | CA354610384 | TF | c.1778A>C (p.Tyr593Ser) c.509A>C n.2772A>C c.1646A>C (p.Tyr549Ser) c.1397A>C (p.Tyr466Ser) | |
3 | g.133775523A>G | CA354610385 | TF | c.1778A>G (p.Tyr593Cys) c.509A>G n.2772A>G c.1646A>G (p.Tyr549Cys) c.1397A>G (p.Tyr466Cys) | gnomAD v4 |
3 | g.133775523A>T | CA354610386 | TF | c.1778A>T (p.Tyr593Phe) c.509A>T n.2772A>T c.1646A>T (p.Tyr549Phe) c.1397A>T (p.Tyr466Phe) | |
3 | g.133775524T>A | CA354610387 | TF | c.1779T>A (p.Tyr593Ter) c.510T>A n.2773T>A c.1647T>A (p.Tyr549Ter) c.1398T>A (p.Tyr466Ter) | |
3 | g.133775524T>C | CA2625409 | TF | c.1779T>C (p.Tyr593=) c.510T>C n.2773T>C c.1647T>C (p.Tyr549=) c.1398T>C (p.Tyr466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775524T>G | CA354610388 | TF | c.1779T>G (p.Tyr593Ter) c.510T>G n.2773T>G c.1647T>G (p.Tyr549Ter) c.1398T>G (p.Tyr466Ter) | |
3 | g.133775524T= | CA1403122758 | TF | c.1779T= (p.Tyr593=) c.510T= n.2773T= c.1647T= (p.Tyr549=) c.1398T= (p.Tyr466=) | |
3 | g.133775525G>A | CA354610389 | TF | c.1780G>A (p.Ala594Thr) c.511G>A n.2774G>A c.1648G>A (p.Ala550Thr) c.1399G>A (p.Ala467Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775525G>C | CA354610390 | TF | c.1780G>C (p.Ala594Pro) c.511G>C n.2774G>C c.1648G>C (p.Ala550Pro) c.1399G>C (p.Ala467Pro) | |
3 | g.133775525G= | CA1403122760 | TF | c.1780G= (p.Ala594=) c.511G= n.2774G= c.1648G= (p.Ala550=) c.1399G= (p.Ala467=) | |
3 | g.133775525G>T | CA354610391 | TF | c.1780G>T (p.Ala594Ser) c.511G>T n.2774G>T c.1648G>T (p.Ala550Ser) c.1399G>T (p.Ala467Ser) | |
3 | g.133775526C>A | CA354610392 | TF | c.1781C>A (p.Ala594Glu) c.512C>A n.2775C>A c.1649C>A (p.Ala550Glu) c.1400C>A (p.Ala467Glu) | |
3 | g.133775526C= | CA1403122762 | TF | c.1781C= (p.Ala594=) c.512C= n.2775C= c.1649C= (p.Ala550=) c.1400C= (p.Ala467=) | |
3 | g.133775526C>G | CA354610394 | TF | c.1781C>G (p.Ala594Gly) c.512C>G n.2775C>G c.1649C>G (p.Ala550Gly) c.1400C>G (p.Ala467Gly) | |
3 | g.133775526C>T | CA354610393 | TF | c.1781C>T (p.Ala594Val) c.512C>T n.2775C>T c.1649C>T (p.Ala550Val) c.1400C>T (p.Ala467Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>A | CA2625411 | TF | c.1782G>A (p.Ala594=) c.513G>A n.2776G>A c.1650G>A (p.Ala550=) c.1401G>A (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775527G>C | CA435815844 | TF | c.1782G>C (p.Ala594=) c.513G>C n.2776G>C c.1650G>C (p.Ala550=) c.1401G>C (p.Ala467=) | ClinVar gnomAD v4 |
3 | g.133775527G= | CA1403122767 | TF | c.1782G= (p.Ala594=) c.513G= n.2776G= c.1650G= (p.Ala550=) c.1401G= (p.Ala467=) | |
3 | g.133775527G>T | CA2625410 | TF | c.1782G>T (p.Ala594=) c.513G>T n.2776G>T c.1650G>T (p.Ala550=) c.1401G>T (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775528A>C | CA354610395 | TF | c.1783A>C (p.Asn595His) c.514A>C n.2777A>C c.1651A>C (p.Asn551His) c.1402A>C (p.Asn468His) | |
3 | g.133775528A>G | CA354610397 | TF | c.1783A>G (p.Asn595Asp) c.514A>G n.2777A>G c.1651A>G (p.Asn551Asp) c.1402A>G (p.Asn468Asp) | |
3 | g.133775528A>T | CA354610396 | TF | c.1783A>T (p.Asn595Tyr) c.514A>T n.2777A>T c.1651A>T (p.Asn551Tyr) c.1402A>T (p.Asn468Tyr) | |
3 | g.133775529A= | CA1403122773 | TF | c.1784A= (p.Asn595=) c.515A= n.2778A= c.1652A= (p.Asn551=) c.1403A= (p.Asn468=) | |
3 | g.133775529A>C | CA354610398 | TF | c.1784A>C (p.Asn595Thr) c.515A>C n.2778A>C c.1652A>C (p.Asn551Thr) c.1403A>C (p.Asn468Thr) | dbSNP |
3 | g.133775529A>G | CA354610400 | TF | c.1784A>G (p.Asn595Ser) c.515A>G n.2778A>G c.1652A>G (p.Asn551Ser) c.1403A>G (p.Asn468Ser) | |
3 | g.133775529A>T | CA354610399 | TF | c.1784A>T (p.Asn595Ile) c.515A>T n.2778A>T c.1652A>T (p.Asn551Ile) c.1403A>T (p.Asn468Ile) | |
3 | g.133775530C>A | CA354610401 | TF | c.1785C>A (p.Asn595Lys) c.516C>A n.2779C>A c.1653C>A (p.Asn551Lys) c.1404C>A (p.Asn468Lys) | gnomAD v4 |
3 | g.133775530C= | CA1403122782 | TF | c.1785C= (p.Asn595=) c.516C= n.2779C= c.1653C= (p.Asn551=) c.1404C= (p.Asn468=) | |
3 | g.133775530C>G | CA354610402 | TF | c.1785C>G (p.Asn595Lys) c.516C>G n.2779C>G c.1653C>G (p.Asn551Lys) c.1404C>G (p.Asn468Lys) | |
3 | g.133775530C>T | CA2625412 | TF | c.1785C>T (p.Asn595=) c.516C>T n.2779C>T c.1653C>T (p.Asn551=) c.1404C>T (p.Asn468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775531T>A | CA354610403 | TF | c.1786T>A (p.Cys596Ser) c.517T>A n.2780T>A c.1654T>A (p.Cys552Ser) c.1405T>A (p.Cys469Ser) | |
3 | g.133775531T>C | CA354610405 | TF | c.1786T>C (p.Cys596Arg) c.517T>C n.2780T>C c.1654T>C (p.Cys552Arg) c.1405T>C (p.Cys469Arg) | |
3 | g.133775531T>G | CA354610404 | TF | c.1786T>G (p.Cys596Gly) c.517T>G n.2780T>G c.1654T>G (p.Cys552Gly) c.1405T>G (p.Cys469Gly) | |
3 | g.133775532G>A | CA354610406 | TF | c.1787G>A (p.Cys596Tyr) c.518G>A n.2781G>A c.1655G>A (p.Cys552Tyr) c.1406G>A (p.Cys469Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775532G>C | CA354610408 | TF | c.1787G>C (p.Cys596Ser) c.518G>C n.2781G>C c.1655G>C (p.Cys552Ser) c.1406G>C (p.Cys469Ser) | |
3 | g.133775532G= | CA1403122791 | TF | c.1787G= (p.Cys596=) c.518G= n.2781G= c.1655G= (p.Cys552=) c.1406G= (p.Cys469=) | |
3 | g.133775532G>T | CA354610407 | TF | c.1787G>T (p.Cys596Phe) c.518G>T n.2781G>T c.1655G>T (p.Cys552Phe) c.1406G>T (p.Cys469Phe) | |
3 | g.133775533C>A | CA354610409 | TF | c.1788C>A (p.Cys596Ter) c.519C>A n.2782C>A c.1656C>A (p.Cys552Ter) c.1407C>A (p.Cys469Ter) | |
3 | g.133775533C>G | CA354610410 | TF | c.1788C>G (p.Cys596Trp) c.519C>G n.2782C>G c.1656C>G (p.Cys552Trp) c.1407C>G (p.Cys469Trp) | |
3 | g.133775533C>T | CA435815845 | TF | c.1788C>T (p.Cys596=) c.519C>T n.2782C>T c.1656C>T (p.Cys552=) c.1407C>T (p.Cys469=) | ClinVar |
3 | g.133775534C>A | CA354610411 | TF | c.1789C>A (p.His597Asn) c.520C>A n.2783C>A c.1657C>A (p.His553Asn) c.1408C>A (p.His470Asn) | |
3 | g.133775534C>G | CA354610412 | TF | c.1789C>G (p.His597Asp) c.520C>G n.2783C>G c.1657C>G (p.His553Asp) c.1408C>G (p.His470Asp) | |
3 | g.133775534C>T | CA354610413 | TF | c.1789C>T (p.His597Tyr) c.520C>T n.2783C>T c.1657C>T (p.His553Tyr) c.1408C>T (p.His470Tyr) | |
3 | g.133775535A= | CA1403122795 | TF | c.1790A= (p.His597=) c.521A= n.2784A= c.1658A= (p.His553=) c.1409A= (p.His470=) | |
3 | g.133775535A>C | CA354610414 | TF | c.1790A>C (p.His597Pro) c.521A>C n.2784A>C c.1658A>C (p.His553Pro) c.1409A>C (p.His470Pro) | dbSNP |
3 | g.133775535A>G | CA354610415 | TF | c.1790A>G (p.His597Arg) c.521A>G n.2784A>G c.1658A>G (p.His553Arg) c.1409A>G (p.His470Arg) | |
3 | g.133775535A>T | CA354610416 | TF | c.1790A>T (p.His597Leu) c.521A>T n.2784A>T c.1658A>T (p.His553Leu) c.1409A>T (p.His470Leu) | |
3 | g.133775536C>A | CA354610417 | TF | c.1791C>A (p.His597Gln) c.522C>A n.2785C>A c.1659C>A (p.His553Gln) c.1410C>A (p.His470Gln) | gnomAD v4 |
3 | g.133775536C= | CA1403122798 | TF | c.1791C= (p.His597=) c.522C= n.2785C= c.1659C= (p.His553=) c.1410C= (p.His470=) | |
3 | g.133775536C>G | CA354610418 | TF | c.1791C>G (p.His597Gln) c.522C>G n.2785C>G c.1659C>G (p.His553Gln) c.1410C>G (p.His470Gln) | |
3 | g.133775536C>T | CA2625413 | TF | c.1791C>T (p.His597=) c.522C>T n.2785C>T c.1659C>T (p.His553=) c.1410C>T (p.His470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775537C>A | CA354610420 | TF | c.1792C>A (p.Leu598Met) c.523C>A n.2786C>A c.1660C>A (p.Leu554Met) c.1411C>A (p.Leu471Met) | |
3 | g.133775537C>G | CA354610419 | TF | c.1792C>G (p.Leu598Val) c.523C>G n.2786C>G c.1660C>G (p.Leu554Val) c.1411C>G (p.Leu471Val) | |
3 | g.133775537C>T | CA435815846 | TF | c.1792C>T (p.Leu598=) c.523C>T n.2786C>T c.1660C>T (p.Leu554=) c.1411C>T (p.Leu471=) | |
3 | g.133775538T>A | CA354610421 | TF | c.1793T>A (p.Leu598Gln) c.524T>A n.2787T>A c.1661T>A (p.Leu554Gln) c.1412T>A (p.Leu471Gln) | |
3 | g.133775538T>C | CA354610422 | TF | c.1793T>C (p.Leu598Pro) c.524T>C n.2787T>C c.1661T>C (p.Leu554Pro) c.1412T>C (p.Leu471Pro) | dbSNP |
3 | g.133775538T>G | CA354610423 | TF | c.1793T>G (p.Leu598Arg) c.524T>G n.2787T>G c.1661T>G (p.Leu554Arg) c.1412T>G (p.Leu471Arg) | |
3 | g.133775539_133775554dup | CA2667772098 | TF | c.1794_1809dup (p.His604GlyfsTer14) c.525_540dup n.2788_2803dup c.1662_1677dup (p.His560GlyfsTer14) c.1413_1428dup (p.His477GlyfsTer14) | gnomAD v4 |
3 | g.133775539G>A | CA435815847 | TF | c.1794G>A (p.Leu598=) c.525G>A n.2788G>A c.1662G>A (p.Leu554=) c.1413G>A (p.Leu471=) | |
3 | g.133775539G>C | CA435815848 | TF | c.1794G>C (p.Leu598=) c.525G>C n.2788G>C c.1662G>C (p.Leu554=) c.1413G>C (p.Leu471=) | |
3 | g.133775539G>T | CA435815849 | TF | c.1794G>T (p.Leu598=) c.525G>T n.2788G>T c.1662G>T (p.Leu554=) c.1413G>T (p.Leu471=) | |
3 | g.133775540G>A | CA354610424 | TF | c.1795G>A (p.Ala599Thr) c.526G>A n.2789G>A c.1663G>A (p.Ala555Thr) c.1414G>A (p.Ala472Thr) | |
3 | g.133775540G>C | CA354610425 | TF | c.1795G>C (p.Ala599Pro) c.526G>C n.2789G>C c.1663G>C (p.Ala555Pro) c.1414G>C (p.Ala472Pro) | gnomAD v4 |
3 | g.133775540G>T | CA354610426 | TF | c.1795G>T (p.Ala599Ser) c.526G>T n.2789G>T c.1663G>T (p.Ala555Ser) c.1414G>T (p.Ala472Ser) | |
3 | g.133775541C>A | CA354610427 | TF | c.1796C>A (p.Ala599Asp) c.527C>A n.2790C>A c.1664C>A (p.Ala555Asp) c.1415C>A (p.Ala472Asp) | |
3 | g.133775541C>G | CA354610428 | TF | c.1796C>G (p.Ala599Gly) c.527C>G n.2790C>G c.1664C>G (p.Ala555Gly) c.1415C>G (p.Ala472Gly) | |
3 | g.133775541C>T | CA354610429 | TF | c.1796C>T (p.Ala599Val) c.527C>T n.2790C>T c.1664C>T (p.Ala555Val) c.1415C>T (p.Ala472Val) | |
3 | g.133775542C>A | CA435815850 | TF | c.1797C>A (p.Ala599=) c.528C>A n.2791C>A c.1665C>A (p.Ala555=) c.1416C>A (p.Ala472=) | gnomAD v4 |
3 | g.133775542C= | CA1403122806 | TF | c.1797C= (p.Ala599=) c.528C= n.2791C= c.1665C= (p.Ala555=) c.1416C= (p.Ala472=) | |
3 | g.133775542C>G | CA435815851 | TF | c.1797C>G (p.Ala599=) c.528C>G n.2791C>G c.1665C>G (p.Ala555=) c.1416C>G (p.Ala472=) | |
3 | g.133775542C>T | CA435815852 | TF | c.1797C>T (p.Ala599=) c.528C>T n.2791C>T c.1665C>T (p.Ala555=) c.1416C>T (p.Ala472=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775543A>C | CA435815853 | TF | c.1798A>C (p.Arg600=) c.529A>C n.2792A>C c.1666A>C (p.Arg556=) c.1417A>C (p.Arg473=) | |
3 | g.133775543A>G | CA354610430 | TF | c.1798A>G (p.Arg600Gly) c.529A>G n.2792A>G c.1666A>G (p.Arg556Gly) c.1417A>G (p.Arg473Gly) | |
3 | g.133775543A>T | CA354610431 | TF | c.1798A>T (p.Arg600Ter) c.529A>T n.2792A>T c.1666A>T (p.Arg556Ter) c.1417A>T (p.Arg473Ter) | |
3 | g.133775544G>A | CA2625414 | TF | c.1799G>A (p.Arg600Lys) c.530G>A n.2793G>A c.1667G>A (p.Arg556Lys) c.1418G>A (p.Arg473Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775544G>C | CA354610433 | TF | c.1799G>C (p.Arg600Thr) c.530G>C n.2793G>C c.1667G>C (p.Arg556Thr) c.1418G>C (p.Arg473Thr) | |
3 | g.133775544G= | CA1403122811 | TF | c.1799G= (p.Arg600=) c.530G= n.2793G= c.1667G= (p.Arg556=) c.1418G= (p.Arg473=) | |
3 | g.133775544G>T | CA354610432 | TF | c.1799G>T (p.Arg600Ile) c.530G>T n.2793G>T c.1667G>T (p.Arg556Ile) c.1418G>T (p.Arg473Ile) | |
3 | g.133775545A>C | CA354610434 | TF | c.1800A>C (p.Arg600Ser) c.531A>C n.2794A>C c.1668A>C (p.Arg556Ser) c.1419A>C (p.Arg473Ser) | |
3 | g.133775545A>G | CA435815854 | TF | c.1800A>G (p.Arg600=) c.531A>G n.2794A>G c.1668A>G (p.Arg556=) c.1419A>G (p.Arg473=) | |
3 | g.133775545A>T | CA354610435 | TF | c.1800A>T (p.Arg600Ser) c.531A>T n.2794A>T c.1668A>T (p.Arg556Ser) c.1419A>T (p.Arg473Ser) | |
3 | g.133775546G>A | CA354610436 | TF | c.1801G>A (p.Ala601Thr) c.532G>A n.2795G>A c.1669G>A (p.Ala557Thr) c.1420G>A (p.Ala474Thr) | gnomAD v4 |
3 | g.133775546G>C | CA354610437 | TF | c.1801G>C (p.Ala601Pro) c.532G>C n.2795G>C c.1669G>C (p.Ala557Pro) c.1420G>C (p.Ala474Pro) | |
3 | g.133775546G>T | CA354610438 | TF | c.1801G>T (p.Ala601Ser) c.532G>T n.2795G>T c.1669G>T (p.Ala557Ser) c.1420G>T (p.Ala474Ser) | |
3 | g.133775547C>A | CA354610439 | TF | c.1802C>A (p.Ala601Asp) c.533C>A n.2796C>A c.1670C>A (p.Ala557Asp) c.1421C>A (p.Ala474Asp) | |
3 | g.133775547C= | CA1403122817 | TF | c.1802C= (p.Ala601=) c.533C= n.2796C= c.1670C= (p.Ala557=) c.1421C= (p.Ala474=) | |
3 | g.133775547C>G | CA354610440 | TF | c.1802C>G (p.Ala601Gly) c.533C>G n.2796C>G c.1670C>G (p.Ala557Gly) c.1421C>G (p.Ala474Gly) | dbSNP gnomAD v4 |
3 | g.133775547C>T | CA354610441 | TF | c.1802C>T (p.Ala601Val) c.533C>T n.2796C>T c.1670C>T (p.Ala557Val) c.1421C>T (p.Ala474Val) | gnomAD v4 |
3 | g.133775548C>A | CA435815855 | TF | c.1803C>A (p.Ala601=) c.534C>A n.2797C>A c.1671C>A (p.Ala557=) c.1422C>A (p.Ala474=) | |
3 | g.133775548C>G | CA435815857 | TF | c.1803C>G (p.Ala601=) c.534C>G n.2797C>G c.1671C>G (p.Ala557=) c.1422C>G (p.Ala474=) | |
3 | g.133775548C>T | CA435815856 | TF | c.1803C>T (p.Ala601=) c.534C>T n.2797C>T c.1671C>T (p.Ala557=) c.1422C>T (p.Ala474=) | ClinVar gnomAD v4 COSMIC |
3 | g.133775549C>A | CA354610442 | TF | c.1804C>A (p.Pro602Thr) c.535C>A n.2798C>A c.1672C>A (p.Pro558Thr) c.1423C>A (p.Pro475Thr) | |
3 | g.133775549C>G | CA354610443 | TF | c.1804C>G (p.Pro602Ala) c.535C>G n.2798C>G c.1672C>G (p.Pro558Ala) c.1423C>G (p.Pro475Ala) | |
3 | g.133775549C>T | CA354610444 | TF | c.1804C>T (p.Pro602Ser) c.535C>T n.2798C>T c.1672C>T (p.Pro558Ser) c.1423C>T (p.Pro475Ser) | |
3 | g.133775550C>A | CA10617300 | TF | c.1805C>A (p.Pro602Gln) c.536C>A n.2799C>A c.1673C>A (p.Pro558Gln) c.1424C>A (p.Pro475Gln) | ClinVar dbSNP |
3 | g.133775550C= | CA1403122827 | TF | c.1805C= (p.Pro602=) c.536C= n.2799C= c.1673C= (p.Pro558=) c.1424C= (p.Pro475=) | |
3 | g.133775550C>G | CA354610445 | TF | c.1805C>G (p.Pro602Arg) c.536C>G n.2799C>G c.1673C>G (p.Pro558Arg) c.1424C>G (p.Pro475Arg) | |
3 | g.133775550C>T | CA2625415 | TF | c.1805C>T (p.Pro602Leu) c.536C>T n.2799C>T c.1673C>T (p.Pro558Leu) c.1424C>T (p.Pro475Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775551G>A | CA2625416 | TF | c.1806G>A (p.Pro602=) c.537G>A n.2800G>A c.1674G>A (p.Pro558=) c.1425G>A (p.Pro475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775551G>C | CA435815858 | TF | c.1806G>C (p.Pro602=) c.537G>C n.2800G>C c.1674G>C (p.Pro558=) c.1425G>C (p.Pro475=) | |
3 | g.133775551G= | CA1403122841 | TF | c.1806G= (p.Pro602=) c.537G= n.2800G= c.1674G= (p.Pro558=) c.1425G= (p.Pro475=) | |
3 | g.133775551G>T | CA435815859 | TF | c.1806G>T (p.Pro602=) c.537G>T n.2800G>T c.1674G>T (p.Pro558=) c.1425G>T (p.Pro475=) | |
3 | g.133775552A>C | CA354610446 | TF | c.1807A>C (p.Asn603His) c.538A>C n.2801A>C c.1675A>C (p.Asn559His) c.1426A>C (p.Asn476His) | |
3 | g.133775552A>G | CA354610447 | TF | c.1807A>G (p.Asn603Asp) c.538A>G n.2801A>G c.1675A>G (p.Asn559Asp) c.1426A>G (p.Asn476Asp) | gnomAD v4 |
3 | g.133775552A>T | CA354610448 | TF | c.1807A>T (p.Asn603Tyr) c.538A>T n.2801A>T c.1675A>T (p.Asn559Tyr) c.1426A>T (p.Asn476Tyr) | |
3 | g.133775553A>C | CA354610449 | TF | c.1808A>C (p.Asn603Thr) c.539A>C n.2802A>C c.1676A>C (p.Asn559Thr) c.1427A>C (p.Asn476Thr) | |
3 | g.133775553A>G | CA354610450 | TF | c.1808A>G (p.Asn603Ser) c.539A>G n.2802A>G c.1676A>G (p.Asn559Ser) c.1427A>G (p.Asn476Ser) | |
3 | g.133775553A>T | CA354610451 | TF | c.1808A>T (p.Asn603Ile) c.539A>T n.2802A>T c.1676A>T (p.Asn559Ile) c.1427A>T (p.Asn476Ile) | |
3 | g.133775554T>A | CA354610452 | TF | c.1809T>A (p.Asn603Lys) c.540T>A n.2803T>A c.1677T>A (p.Asn559Lys) c.1428T>A (p.Asn476Lys) | |
3 | g.133775554T>C | CA435815860 | TF | c.1809T>C (p.Asn603=) c.540T>C n.2803T>C c.1677T>C (p.Asn559=) c.1428T>C (p.Asn476=) | |
3 | g.133775554T>G | CA354610453 | TF | c.1809T>G (p.Asn603Lys) c.540T>G n.2803T>G c.1677T>G (p.Asn559Lys) c.1428T>G (p.Asn476Lys) | |
3 | g.133775555C>A | CA354610454 | TF | c.1810C>A (p.His604Asn) c.541C>A n.2804C>A c.1678C>A (p.His560Asn) c.1429C>A (p.His477Asn) | |
3 | g.133775555C>G | CA354610455 | TF | c.1810C>G (p.His604Asp) c.541C>G n.2804C>G c.1678C>G (p.His560Asp) c.1429C>G (p.His477Asp) | |
3 | g.133775555C>T | CA354610456 | TF | c.1810C>T (p.His604Tyr) c.541C>T n.2804C>T c.1678C>T (p.His560Tyr) c.1429C>T (p.His477Tyr) | |
3 | g.133775556A>C | CA354610458 | TF | c.1811A>C (p.His604Pro) c.542A>C n.2805A>C c.1679A>C (p.His560Pro) c.1430A>C (p.His477Pro) | |
3 | g.133775556A>G | CA354610459 | TF | c.1811A>G (p.His604Arg) c.542A>G n.2805A>G c.1679A>G (p.His560Arg) c.1430A>G (p.His477Arg) | |
3 | g.133775556A>T | CA354610457 | TF | c.1811A>T (p.His604Leu) c.542A>T n.2805A>T c.1679A>T (p.His560Leu) c.1430A>T (p.His477Leu) | |
3 | g.133775557C>A | CA354610461 | TF | c.1812C>A (p.His604Gln) c.543C>A n.2806C>A c.1680C>A (p.His560Gln) c.1431C>A (p.His477Gln) | |
3 | g.133775557C= | CA1403122846 | TF | c.1812C= (p.His604=) c.543C= n.2806C= c.1680C= (p.His560=) c.1431C= (p.His477=) | |
3 | g.133775557C>G | CA354610460 | TF | c.1812C>G (p.His604Gln) c.543C>G n.2806C>G c.1680C>G (p.His560Gln) c.1431C>G (p.His477Gln) | |
3 | g.133775557C>T | CA2625417 | TF | c.1812C>T (p.His604=) c.543C>T n.2806C>T c.1680C>T (p.His560=) c.1431C>T (p.His477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775558G>A | CA354610462 | TF | c.1813G>A (p.Ala605Thr) c.544G>A n.2807G>A c.1681G>A (p.Ala561Thr) c.1432G>A (p.Ala478Thr) | dbSNP |
3 | g.133775558G>C | CA354610463 | TF | c.1813G>C (p.Ala605Pro) c.544G>C n.2807G>C c.1681G>C (p.Ala561Pro) c.1432G>C (p.Ala478Pro) | |
3 | g.133775558G= | CA1403122852 | TF | c.1813G= (p.Ala605=) c.544G= n.2807G= c.1681G= (p.Ala561=) c.1432G= (p.Ala478=) | |
3 | g.133775558G>T | CA354610464 | TF | c.1813G>T (p.Ala605Ser) c.544G>T n.2807G>T c.1681G>T (p.Ala561Ser) c.1432G>T (p.Ala478Ser) | |
3 | g.133775559C>A | CA354610467 | TF | c.1814C>A (p.Ala605Asp) c.545C>A n.2808C>A c.1682C>A (p.Ala561Asp) c.1433C>A (p.Ala478Asp) | COSMIC |
3 | g.133775559C>G | CA354610466 | TF | c.1814C>G (p.Ala605Gly) c.545C>G n.2808C>G c.1682C>G (p.Ala561Gly) c.1433C>G (p.Ala478Gly) | |
3 | g.133775559C>T | CA354610465 | TF | c.1814C>T (p.Ala605Val) c.545C>T n.2808C>T c.1682C>T (p.Ala561Val) c.1433C>T (p.Ala478Val) | |
3 | g.133775560T>A | CA435815861 | TF | c.1815T>A (p.Ala605=) c.546T>A n.2809T>A c.1683T>A (p.Ala561=) c.1434T>A (p.Ala478=) | |
3 | g.133775560T>C | CA435815863 | TF | c.1815T>C (p.Ala605=) c.546T>C n.2809T>C c.1683T>C (p.Ala561=) c.1434T>C (p.Ala478=) | |
3 | g.133775560T>G | CA435815862 | TF | c.1815T>G (p.Ala605=) c.546T>G n.2809T>G c.1683T>G (p.Ala561=) c.1434T>G (p.Ala478=) | |
3 | g.133775561G>A | CA354610468 | TF | c.1816G>A (p.Val606Met) c.547G>A n.2810G>A c.1684G>A (p.Val562Met) c.1435G>A (p.Val479Met) | |
3 | g.133775561G>C | CA354610469 | TF | c.1816G>C (p.Val606Leu) c.547G>C n.2810G>C c.1684G>C (p.Val562Leu) c.1435G>C (p.Val479Leu) | |
3 | g.133775561G>T | CA354610470 | TF | c.1816G>T (p.Val606Leu) c.547G>T n.2810G>T c.1684G>T (p.Val562Leu) c.1435G>T (p.Val479Leu) | |
3 | g.133775562T>A | CA354610471 | TF | c.1817T>A (p.Val606Glu) c.548T>A n.2811T>A c.1685T>A (p.Val562Glu) c.1436T>A (p.Val479Glu) | |
3 | g.133775562T>C | CA354610472 | TF | c.1817T>C (p.Val606Ala) c.548T>C n.2811T>C c.1685T>C (p.Val562Ala) c.1436T>C (p.Val479Ala) | dbSNP gnomAD v4 |
3 | g.133775562T>G | CA354610473 | TF | c.1817T>G (p.Val606Gly) c.548T>G n.2811T>G c.1685T>G (p.Val562Gly) c.1436T>G (p.Val479Gly) | |
3 | g.133775563G>A | CA435815864 | TF | c.1818G>A (p.Val606=) c.549G>A n.2812G>A c.1686G>A (p.Val562=) c.1437G>A (p.Val479=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775563G>C | CA435815865 | TF | c.1818G>C (p.Val606=) c.549G>C n.2812G>C c.1686G>C (p.Val562=) c.1437G>C (p.Val479=) | |
3 | g.133775563G= | CA1403122857 | TF | c.1818G= (p.Val606=) c.549G= n.2812G= c.1686G= (p.Val562=) c.1437G= (p.Val479=) | |
3 | g.133775563G>T | CA435815866 | TF | c.1818G>T (p.Val606=) c.549G>T n.2812G>T c.1686G>T (p.Val562=) c.1437G>T (p.Val479=) | |
3 | g.133775564G>A | CA354610474 | TF | c.1819G>A (p.Val607Ile) c.550G>A n.2813G>A c.1687G>A (p.Val563Ile) c.1438G>A (p.Val480Ile) | |
3 | g.133775564G>C | CA354610476 | TF | c.1819G>C (p.Val607Leu) c.550G>C n.2813G>C c.1687G>C (p.Val563Leu) c.1438G>C (p.Val480Leu) | gnomAD v4 |
3 | g.133775564G>T | CA354610475 | TF | c.1819G>T (p.Val607Phe) c.550G>T n.2813G>T c.1687G>T (p.Val563Phe) c.1438G>T (p.Val480Phe) | |
3 | g.133775565T>A | CA354610477 | TF | c.1820T>A (p.Val607Asp) c.551T>A n.2814T>A c.1688T>A (p.Val563Asp) c.1439T>A (p.Val480Asp) | |
3 | g.133775565T>C | CA354610478 | TF | c.1820T>C (p.Val607Ala) c.551T>C n.2814T>C c.1688T>C (p.Val563Ala) c.1439T>C (p.Val480Ala) | |
3 | g.133775565T>G | CA354610479 | TF | c.1820T>G (p.Val607Gly) c.551T>G n.2814T>G c.1688T>G (p.Val563Gly) c.1439T>G (p.Val480Gly) | |
3 | g.133775566C>A | CA2625418 | TF | c.1821C>A (p.Val607=) c.552C>A n.2815C>A c.1689C>A (p.Val563=) c.1440C>A (p.Val480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775566C= | CA1403122872 | TF | c.1821C= (p.Val607=) c.552C= n.2815C= c.1689C= (p.Val563=) c.1440C= (p.Val480=) | |
3 | g.133775566C>G | CA435815867 | TF | c.1821C>G (p.Val607=) c.552C>G n.2815C>G c.1689C>G (p.Val563=) c.1440C>G (p.Val480=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.133775566C>T | CA435815868 | TF | c.1821C>T (p.Val607=) c.552C>T n.2815C>T c.1689C>T (p.Val563=) c.1440C>T (p.Val480=) | |
3 | g.133775567A>C | CA354610480 | TF | c.1822A>C (p.Thr608Pro) c.553A>C n.2816A>C c.1690A>C (p.Thr564Pro) c.1441A>C (p.Thr481Pro) | |
3 | g.133775567A>G | CA354610481 | TF | c.1822A>G (p.Thr608Ala) c.553A>G n.2816A>G c.1690A>G (p.Thr564Ala) c.1441A>G (p.Thr481Ala) | |
3 | g.133775567A>T | CA354610482 | TF | c.1822A>T (p.Thr608Ser) c.553A>T n.2816A>T c.1690A>T (p.Thr564Ser) c.1441A>T (p.Thr481Ser) | |
3 | g.133775568C>A | CA354610483 | TF | c.1823C>A (p.Thr608Lys) c.554C>A n.2817C>A c.1691C>A (p.Thr564Lys) c.1442C>A (p.Thr481Lys) | |
3 | g.133775568C>G | CA354610484 | TF | c.1823C>G (p.Thr608Arg) c.554C>G n.2817C>G c.1691C>G (p.Thr564Arg) c.1442C>G (p.Thr481Arg) | |
3 | g.133775568C>T | CA354610485 | TF | c.1823C>T (p.Thr608Ile) c.554C>T n.2817C>T c.1691C>T (p.Thr564Ile) c.1442C>T (p.Thr481Ile) | |
3 | g.133775569A>C | CA435815869 | TF | c.1824A>C (p.Thr608=) c.555A>C n.2818A>C c.1692A>C (p.Thr564=) c.1443A>C (p.Thr481=) | |
3 | g.133775569A>G | CA435815870 | TF | c.1824A>G (p.Thr608=) c.555A>G n.2818A>G c.1692A>G (p.Thr564=) c.1443A>G (p.Thr481=) | |
3 | g.133775569A>T | CA435815871 | TF | c.1824A>T (p.Thr608=) c.555A>T n.2818A>T c.1692A>T (p.Thr564=) c.1443A>T (p.Thr481=) | |
3 | g.133775570C>A | CA2625419 | TF | c.1825C>A (p.Arg609=) c.556C>A n.2819C>A c.1693C>A (p.Arg565=) c.1444C>A (p.Arg482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133775570C= | CA1403122884 | TF | c.1825C= (p.Arg609=) c.556C= n.2819C= c.1693C= (p.Arg565=) c.1444C= (p.Arg482=) | |
3 | g.133775570C>G | CA354610486 | TF | c.1825C>G (p.Arg609Gly) c.556C>G n.2819C>G c.1693C>G (p.Arg565Gly) c.1444C>G (p.Arg482Gly) | |
3 | g.133775570C>T | CA211198 | TF | c.1825C>T (p.Arg609Trp) c.556C>T n.2819C>T c.1693C>T (p.Arg565Trp) c.1444C>T (p.Arg482Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>A | CA354610487 | TF | c.1826G>A (p.Arg609Gln) c.557G>A n.2820G>A c.1694G>A (p.Arg565Gln) c.1445G>A (p.Arg482Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775571G>C | CA354610488 | TF | c.1826G>C (p.Arg609Pro) c.557G>C n.2820G>C c.1694G>C (p.Arg565Pro) c.1445G>C (p.Arg482Pro) | |
3 | g.133775571G= | CA1403122896 | TF | c.1826G= (p.Arg609=) c.557G= n.2820G= c.1694G= (p.Arg565=) c.1445G= (p.Arg482=) | |
3 | g.133775571G>T | CA354610489 | TF | c.1826G>T (p.Arg609Leu) c.557G>T n.2820G>T c.1694G>T (p.Arg565Leu) c.1445G>T (p.Arg482Leu) | |
3 | g.133775572G>A | CA83693015 | TF | c.1827G>A (p.Arg609=) c.558G>A n.2821G>A c.1695G>A (p.Arg565=) c.1446G>A (p.Arg482=) | dbSNP |
3 | g.133775572G>C | CA435815872 | TF | c.1827G>C (p.Arg609=) c.558G>C n.2821G>C c.1695G>C (p.Arg565=) c.1446G>C (p.Arg482=) | |
3 | g.133775572G= | CA1403122902 | TF | c.1827G= (p.Arg609=) c.558G= n.2821G= c.1695G= (p.Arg565=) c.1446G= (p.Arg482=) | |
3 | g.133775572G>T | CA435815873 | TF | c.1827G>T (p.Arg609=) c.558G>T n.2821G>T c.1695G>T (p.Arg565=) c.1446G>T (p.Arg482=) | |
3 | g.133775573A>C | CA354610490 | TF | c.1828A>C (p.Lys610Gln) c.559A>C n.2822A>C c.1696A>C (p.Lys566Gln) c.1447A>C (p.Lys483Gln) | |
3 | g.133775573A>G | CA354610491 | TF | c.1828A>G (p.Lys610Glu) c.559A>G n.2822A>G c.1696A>G (p.Lys566Glu) c.1447A>G (p.Lys483Glu) | gnomAD v4 |
3 | g.133775573A>T | CA354610492 | TF | c.1828A>T (p.Lys610Ter) c.559A>T n.2822A>T c.1696A>T (p.Lys566Ter) c.1447A>T (p.Lys483Ter) | |
3 | g.133775574A>C | CA354610493 | TF | c.1829A>C (p.Lys610Thr) c.560A>C n.2823A>C c.1697A>C (p.Lys566Thr) c.1448A>C (p.Lys483Thr) | |
3 | g.133775574A>G | CA354610494 | TF | c.1829A>G (p.Lys610Arg) c.560A>G n.2823A>G c.1697A>G (p.Lys566Arg) c.1448A>G (p.Lys483Arg) | |
3 | g.133775574A>T | CA354610495 | TF | c.1829A>T (p.Lys610Ile) c.560A>T n.2823A>T c.1697A>T (p.Lys566Ile) c.1448A>T (p.Lys483Ile) | |
3 | g.133775575A= | CA1403122905 | TF | c.1830A= (p.Lys610=) c.561A= n.2824A= c.1698A= (p.Lys566=) c.1449A= (p.Lys483=) | |
3 | g.133775575A>C | CA354610496 | TF | c.1830A>C (p.Lys610Asn) c.561A>C n.2824A>C c.1698A>C (p.Lys566Asn) c.1449A>C (p.Lys483Asn) | |
3 | g.133775575A>G | CA2625420 | TF | c.1830A>G (p.Lys610=) c.561A>G n.2824A>G c.1698A>G (p.Lys566=) c.1449A>G (p.Lys483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133775575A>T | CA354610497 | TF | c.1830A>T (p.Lys610Asn) c.561A>T n.2824A>T c.1698A>T (p.Lys566Asn) c.1449A>T (p.Lys483Asn) | |
3 | g.133775576G>A | CA354610499 | TF | c.1831G>A (p.Asp611Asn) c.562G>A n.2825G>A c.1699G>A (p.Asp567Asn) c.1450G>A (p.Asp484Asn) | dbSNP |
3 | g.133775576G>C | CA354610500 | TF | c.1831G>C (p.Asp611His) c.562G>C n.2825G>C c.1699G>C (p.Asp567His) c.1450G>C (p.Asp484His) | |
3 | g.133775576G= | CA1403122909 | TF | c.1831G= (p.Asp611=) c.562G= n.2825G= c.1699G= (p.Asp567=) c.1450G= (p.Asp484=) | |
3 | g.133775576G>T | CA354610498 | TF | c.1831G>T (p.Asp611Tyr) c.562G>T n.2825G>T c.1699G>T (p.Asp567Tyr) c.1450G>T (p.Asp484Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775577A>C | CA354610501 | TF | c.1832A>C (p.Asp611Ala) c.563A>C n.2826A>C c.1700A>C (p.Asp567Ala) c.1451A>C (p.Asp484Ala) | |
3 | g.133775577A>G | CA354610502 | TF | c.1832A>G (p.Asp611Gly) c.563A>G n.2826A>G c.1700A>G (p.Asp567Gly) c.1451A>G (p.Asp484Gly) | |
3 | g.133775577A>T | CA354610503 | TF | c.1832A>T (p.Asp611Val) c.563A>T n.2826A>T c.1700A>T (p.Asp567Val) c.1451A>T (p.Asp484Val) | |
3 | g.133775578T>A | CA354610504 | TF | c.1833T>A (p.Asp611Glu) c.564T>A n.2827T>A c.1701T>A (p.Asp567Glu) c.1452T>A (p.Asp484Glu) | |
3 | g.133775578T>C | CA435815874 | TF | c.1833T>C (p.Asp611=) c.564T>C n.2827T>C c.1701T>C (p.Asp567=) c.1452T>C (p.Asp484=) | ClinVar |
3 | g.133775578T>G | CA354610505 | TF | c.1833T>G (p.Asp611Glu) c.564T>G n.2827T>G c.1701T>G (p.Asp567Glu) c.1452T>G (p.Asp484Glu) | |
3 | g.133775578_133775579delinsTA | CA1403122915 | TF | c.1833_1834delinsTA (p.Asp611=) c.564_565delinsTA n.2827_2828delinsTA c.1701_1702delinsTA (p.Asp567=) c.1452_1453delinsTA (p.Asp484=) | |
3 | g.133775579A>C | CA354610508 | TF | c.1834A>C (p.Lys612Gln) c.565A>C n.2828A>C c.1702A>C (p.Lys568Gln) c.1453A>C (p.Lys485Gln) | |
3 | g.133775579A>G | CA354610506 | TF | c.1834A>G (p.Lys612Glu) c.565A>G n.2828A>G c.1702A>G (p.Lys568Glu) c.1453A>G (p.Lys485Glu) | |
3 | g.133775579A>T | CA354610507 | TF | c.1834A>T (p.Lys612Ter) c.565A>T n.2828A>T c.1702A>T (p.Lys568Ter) c.1453A>T (p.Lys485Ter) | |
3 | g.133775580del | CA1053735593 | TF | c.1835del (p.Lys612ArgfsTer20) c.566del n.2829del c.1703del (p.Lys568ArgfsTer20) c.1454del (p.Lys485ArgfsTer20) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775580A>C | CA354610509 | TF | c.1835A>C (p.Lys612Thr) c.566A>C n.2829A>C c.1703A>C (p.Lys568Thr) c.1454A>C (p.Lys485Thr) | |
3 | g.133775580A>G | CA354610510 | TF | c.1835A>G (p.Lys612Arg) c.566A>G n.2829A>G c.1703A>G (p.Lys568Arg) c.1454A>G (p.Lys485Arg) | |
3 | g.133775580A>T | CA354610511 | TF | c.1835A>T (p.Lys612Met) c.566A>T n.2829A>T c.1703A>T (p.Lys568Met) c.1454A>T (p.Lys485Met) | |
3 | g.133775581G>A | CA435815875 | TF | c.1836G>A (p.Lys612=) c.567G>A n.2830G>A c.1704G>A (p.Lys568=) c.1455G>A (p.Lys485=) | ClinVar |
3 | g.133775581G>C | CA354610512 | TF | c.1836G>C (p.Lys612Asn) c.567G>C n.2830G>C c.1704G>C (p.Lys568Asn) c.1455G>C (p.Lys485Asn) | |
3 | g.133775581G>T | CA354610513 | TF | c.1836G>T (p.Lys612Asn) c.567G>T n.2830G>T c.1704G>T (p.Lys568Asn) c.1455G>T (p.Lys485Asn) | |
3 | g.133775582G>A | CA354610516 | TF | c.1837G>A (p.Glu613Lys) c.568G>A n.2831G>A c.1705G>A (p.Glu569Lys) c.1456G>A (p.Glu486Lys) | |
3 | g.133775582G>C | CA354610515 | TF | c.1837G>C (p.Glu613Gln) c.568G>C n.2831G>C c.1705G>C (p.Glu569Gln) c.1456G>C (p.Glu486Gln) | |
3 | g.133775582G>T | CA354610514 | TF | c.1837G>T (p.Glu613Ter) c.568G>T n.2831G>T c.1705G>T (p.Glu569Ter) c.1456G>T (p.Glu486Ter) | |
3 | g.133775583A>C | CA354610517 | TF | c.1838A>C (p.Glu613Ala) c.569A>C n.2832A>C c.1706A>C (p.Glu569Ala) c.1457A>C (p.Glu486Ala) | |
3 | g.133775583A>G | CA354610519 | TF | c.1838A>G (p.Glu613Gly) c.569A>G n.2832A>G c.1706A>G (p.Glu569Gly) c.1457A>G (p.Glu486Gly) | |
3 | g.133775583A>T | CA354610518 | TF | c.1838A>T (p.Glu613Val) c.569A>T n.2832A>T c.1706A>T (p.Glu569Val) c.1457A>T (p.Glu486Val) | |
3 | g.133775584A>C | CA354610520 | TF | c.1839A>C (p.Glu613Asp) c.570A>C n.2833A>C c.1707A>C (p.Glu569Asp) c.1458A>C (p.Glu486Asp) | |
3 | g.133775584A>G | CA435815876 | TF | c.1839A>G (p.Glu613=) c.570A>G n.2833A>G c.1707A>G (p.Glu569=) c.1458A>G (p.Glu486=) | |
3 | g.133775584A>T | CA354610521 | TF | c.1839A>T (p.Glu613Asp) c.570A>T n.2833A>T c.1707A>T (p.Glu569Asp) c.1458A>T (p.Glu486Asp) | |
3 | g.133775585G>A | CA354610522 | TF | c.1840G>A (p.Ala614Thr) c.571G>A n.2834G>A c.1708G>A (p.Ala570Thr) c.1459G>A (p.Ala487Thr) | |
3 | g.133775585G>C | CA354610523 | TF | c.1840G>C (p.Ala614Pro) c.571G>C n.2834G>C c.1708G>C (p.Ala570Pro) c.1459G>C (p.Ala487Pro) | |
3 | g.133775585G>T | CA354610524 | TF | c.1840G>T (p.Ala614Ser) c.571G>T n.2834G>T c.1708G>T (p.Ala570Ser) c.1459G>T (p.Ala487Ser) | |
3 | g.133775586C>A | CA354610525 | TF | c.1841C>A (p.Ala614Asp) c.572C>A n.2835C>A c.1709C>A (p.Ala570Asp) c.1460C>A (p.Ala487Asp) | |
3 | g.133775586C= | CA1403122918 | TF | c.1841C= (p.Ala614=) c.572C= n.2835C= c.1709C= (p.Ala570=) c.1460C= (p.Ala487=) | |
3 | g.133775586C>G | CA354610526 | TF | c.1841C>G (p.Ala614Gly) c.572C>G n.2835C>G c.1709C>G (p.Ala570Gly) c.1460C>G (p.Ala487Gly) | dbSNP |
3 | g.133775586C>T | CA354610527 | TF | c.1841C>T (p.Ala614Val) c.572C>T n.2835C>T c.1709C>T (p.Ala570Val) c.1460C>T (p.Ala487Val) | dbSNP |
3 | g.133775587T>A | CA435815877 | TF | c.1842T>A (p.Ala614=) c.573T>A n.2836T>A c.1710T>A (p.Ala570=) c.1461T>A (p.Ala487=) | |
3 | g.133775587T>C | CA435815879 | TF | c.1842T>C (p.Ala614=) c.573T>C n.2836T>C c.1710T>C (p.Ala570=) c.1461T>C (p.Ala487=) | |
3 | g.133775587T>G | CA435815878 | TF | c.1842T>G (p.Ala614=) c.573T>G n.2836T>G c.1710T>G (p.Ala570=) c.1461T>G (p.Ala487=) | |
3 | g.133775588T>A | CA354610528 | TF | c.1843T>A (p.Cys615Ser) c.574T>A n.2837T>A c.1711T>A (p.Cys571Ser) c.1462T>A (p.Cys488Ser) | |
3 | g.133775588T>C | CA354610529 | TF | c.1843T>C (p.Cys615Arg) c.574T>C n.2837T>C c.1711T>C (p.Cys571Arg) c.1462T>C (p.Cys488Arg) | |
3 | g.133775588T>G | CA354610530 | TF | c.1843T>G (p.Cys615Gly) c.574T>G n.2837T>G c.1711T>G (p.Cys571Gly) c.1462T>G (p.Cys488Gly) | |
3 | g.133775589G>A | CA354610531 | TF | c.1844G>A (p.Cys615Tyr) c.575G>A n.2838G>A c.1712G>A (p.Cys571Tyr) c.1463G>A (p.Cys488Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133775589G>C | CA354610532 | TF | c.1844G>C (p.Cys615Ser) c.575G>C n.2838G>C c.1712G>C (p.Cys571Ser) c.1463G>C (p.Cys488Ser) | |
3 | g.133775589G= | CA1403122921 | TF | c.1844G= (p.Cys615=) c.575G= n.2838G= c.1712G= (p.Cys571=) c.1463G= (p.Cys488=) | |
3 | g.133775589G>T | CA354610533 | TF | c.1844G>T (p.Cys615Phe) c.575G>T n.2838G>T c.1712G>T (p.Cys571Phe) c.1463G>T (p.Cys488Phe) | |
3 | g.133775590C>A | CA354610535 | TF | c.1845C>A (p.Cys615Ter) c.576C>A n.2839C>A c.1713C>A (p.Cys571Ter) c.1464C>A (p.Cys488Ter) | gnomAD v4 |
3 | g.133775590C= | CA1403122927 | TF | c.1845C= (p.Cys615=) c.576C= n.2839C= c.1713C= (p.Cys571=) c.1464C= (p.Cys488=) | |
3 | g.133775590C>G | CA354610534 | TF | c.1845C>G (p.Cys615Trp) c.576C>G n.2839C>G c.1713C>G (p.Cys571Trp) c.1464C>G (p.Cys488Trp) | |
3 | g.133775590C>T | CA2625421 | TF | c.1845C>T (p.Cys615=) c.576C>T n.2839C>T c.1713C>T (p.Cys571=) c.1464C>T (p.Cys488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.133775591G>A | CA83693023 | TF | c.1846G>A (p.Val616Ile) c.577G>A n.2840G>A c.1714G>A (p.Val572Ile) c.1465G>A (p.Val489Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.133775591G>C | CA354610536 | TF | c.1846G>C (p.Val616Leu) c.577G>C n.2840G>C c.1714G>C (p.Val572Leu) c.1465G>C (p.Val489Leu) | |
3 | g.133775591G= | CA1403122932 | TF | c.1846G= (p.Val616=) c.577G= n.2840G= c.1714G= (p.Val572=) c.1465G= (p.Val489=) | |
3 | g.133775591G>T | CA354610537 | TF | c.1846G>T (p.Val616Phe) c.577G>T n.2840G>T c.1714G>T (p.Val572Phe) c.1465G>T (p.Val489Phe) | dbSNP COSMIC |
3 | g.133775592T>A | CA354610538 | TF | c.1847T>A (p.Val616Asp) c.578T>A n.2841T>A c.1715T>A (p.Val572Asp) c.1466T>A (p.Val489Asp) | |
3 | g.133775592T>C | CA354610539 | TF | c.1847T>C (p.Val616Ala) c.578T>C n.2841T>C c.1715T>C (p.Val572Ala) c.1466T>C (p.Val489Ala) | |
3 | g.133775592T>G | CA354610540 | TF | c.1847T>G (p.Val616Gly) c.578T>G n.2841T>G c.1715T>G (p.Val572Gly) c.1466T>G (p.Val489Gly) | |
3 | g.133775593C>A | CA435815880 | TF | c.1848C>A (p.Val616=) c.579C>A n.2842C>A c.1716C>A (p.Val572=) c.1467C>A (p.Val489=) | |
3 | g.133775593C>G | CA435815881 | TF | c.1848C>G (p.Val616=) c.579C>G n.2842C>G c.1716C>G (p.Val572=) c.1467C>G (p.Val489=) | |
3 | g.133775593C>T | CA435815882 | TF | c.1848C>T (p.Val616=) c.579C>T n.2842C>T c.1716C>T (p.Val572=) c.1467C>T (p.Val489=) |