Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.14842314A>CCA372959853FREM1c.1738+2T>G (n.1738+2T>G)
n.2524+2T>G
c.1765+2T>G (n.1765+2T>G)
c.1357+2T>G (n.1357+2T>G)
c.841+2T>G (n.841+2T>G)
n.2551+2T>G
n.2554+2T>G
n.2498+2T>G
9g.14842314A>GCA372959854FREM1c.1738+2T>C (n.1738+2T>C)
n.2524+2T>C
c.1765+2T>C (n.1765+2T>C)
c.1357+2T>C (n.1357+2T>C)
c.841+2T>C (n.841+2T>C)
n.2551+2T>C
n.2554+2T>C
n.2498+2T>C
9g.14842314A>TCA372959855FREM1c.1738+2T>A (n.1738+2T>A)
n.2524+2T>A
c.1765+2T>A (n.1765+2T>A)
c.1357+2T>A (n.1357+2T>A)
c.841+2T>A (n.841+2T>A)
n.2551+2T>A
n.2554+2T>A
n.2498+2T>A
9g.14842315C>ACA372959856FREM1c.1738+1G>T (n.1738+1G>T)
n.2524+1G>T
c.1765+1G>T (n.1765+1G>T)
c.1357+1G>T (n.1357+1G>T)
c.841+1G>T (n.841+1G>T)
n.2551+1G>T
n.2554+1G>T
n.2498+1G>T
 gnomAD v4 COSMIC
9g.14842315C=CA1835222298FREM1c.1738+1G= (n.1738+1G=)
n.2524+1G=
c.1765+1G= (n.1765+1G=)
c.1357+1G= (n.1357+1G=)
c.841+1G= (n.841+1G=)
n.2551+1G=
n.2554+1G=
n.2498+1G=
9g.14842315C>GCA372959858FREM1c.1738+1G>C (n.1738+1G>C)
n.2524+1G>C
c.1765+1G>C (n.1765+1G>C)
c.1357+1G>C (n.1357+1G>C)
c.841+1G>C (n.841+1G>C)
n.2551+1G>C
n.2554+1G>C
n.2498+1G>C
 dbSNP gnomAD v4
9g.14842315C>TCA372959859FREM1c.1738+1G>A (n.1738+1G>A)
n.2524+1G>A
c.1765+1G>A (n.1765+1G>A)
c.1357+1G>A (n.1357+1G>A)
c.841+1G>A (n.841+1G>A)
n.2551+1G>A
n.2554+1G>A
n.2498+1G>A
9g.14842316C>ACA372959865FREM1c.1738G>T (p.Gly580Cys)
n.2524G>T
c.1765G>T (p.Gly589Cys)
c.1357G>T (p.Gly453Cys)
c.841G>T (p.Gly281Cys)
n.2551G>T
n.2554G>T
n.2498G>T
 gnomAD v4
9g.14842316C>GCA372959863FREM1c.1738G>C (p.Gly580Arg)
n.2524G>C
c.1765G>C (p.Gly589Arg)
c.1357G>C (p.Gly453Arg)
c.841G>C (p.Gly281Arg)
n.2551G>C
n.2554G>C
n.2498G>C
9g.14842316C>TCA372959861FREM1c.1738G>A (p.Gly580Ser)
n.2524G>A
c.1765G>A (p.Gly589Ser)
c.1357G>A (p.Gly453Ser)
c.841G>A (p.Gly281Ser)
n.2551G>A
n.2554G>A
n.2498G>A
9g.14842317T>ACA463877671FREM1c.1737A>T (p.Ile579=)
n.2523A>T
c.1764A>T (p.Ile588=)
c.1356A>T (p.Ile452=)
c.840A>T (p.Ile280=)
n.2550A>T
n.2553A>T
n.2497A>T
9g.14842317T>CCA372959867FREM1c.1737A>G (p.Ile579Met)
n.2523A>G
c.1764A>G (p.Ile588Met)
c.1356A>G (p.Ile452Met)
c.840A>G (p.Ile280Met)
n.2550A>G
n.2553A>G
n.2497A>G
9g.14842317T>GCA189364120FREM1c.1737A>C (p.Ile579=)
n.2523A>C
c.1764A>C (p.Ile588=)
c.1356A>C (p.Ile452=)
c.840A>C (p.Ile280=)
n.2550A>C
n.2553A>C
n.2497A>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842317T=CA1835222299FREM1c.1737A= (p.Ile579=)
n.2523A=
c.1764A= (p.Ile588=)
c.1356A= (p.Ile452=)
c.840A= (p.Ile280=)
n.2550A=
n.2553A=
n.2497A=
9g.14842318A=CA1835222300FREM1c.1736T= (p.Ile579=)
n.2522T=
c.1763T= (p.Ile588=)
c.1355T= (p.Ile452=)
c.839T= (p.Ile280=)
n.2549T=
n.2552T=
n.2496T=
9g.14842318A>CCA372959868FREM1c.1736T>G (p.Ile579Arg)
n.2522T>G
c.1763T>G (p.Ile588Arg)
c.1355T>G (p.Ile452Arg)
c.839T>G (p.Ile280Arg)
n.2549T>G
n.2552T>G
n.2496T>G
9g.14842318A>GCA372959870FREM1c.1736T>C (p.Ile579Thr)
n.2522T>C
c.1763T>C (p.Ile588Thr)
c.1355T>C (p.Ile452Thr)
c.839T>C (p.Ile280Thr)
n.2549T>C
n.2552T>C
n.2496T>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842318A>TCA372959872FREM1c.1736T>A (p.Ile579Lys)
n.2522T>A
c.1763T>A (p.Ile588Lys)
c.1355T>A (p.Ile452Lys)
c.839T>A (p.Ile280Lys)
n.2549T>A
n.2552T>A
n.2496T>A
9g.14842319T>ACA372959874FREM1c.1735A>T (p.Ile579Leu)
n.2521A>T
c.1762A>T (p.Ile588Leu)
c.1354A>T (p.Ile452Leu)
c.838A>T (p.Ile280Leu)
n.2548A>T
n.2551A>T
n.2495A>T
9g.14842319T>CCA372959875FREM1c.1735A>G (p.Ile579Val)
n.2521A>G
c.1762A>G (p.Ile588Val)
c.1354A>G (p.Ile452Val)
c.838A>G (p.Ile280Val)
n.2548A>G
n.2551A>G
n.2495A>G
9g.14842319T>GCA372959877FREM1c.1735A>C (p.Ile579Leu)
n.2521A>C
c.1762A>C (p.Ile588Leu)
c.1354A>C (p.Ile452Leu)
c.838A>C (p.Ile280Leu)
n.2548A>C
n.2551A>C
n.2495A>C
9g.14842320C>ACA463877672FREM1c.1734G>T (p.Leu578=)
n.2520G>T
c.1761G>T (p.Leu587=)
c.1353G>T (p.Leu451=)
c.837G>T (p.Leu279=)
n.2547G>T
n.2550G>T
n.2494G>T
 gnomAD v4
9g.14842320C=CA1835222301FREM1c.1734G= (p.Leu578=)
n.2520G=
c.1761G= (p.Leu587=)
c.1353G= (p.Leu451=)
c.837G= (p.Leu279=)
n.2547G=
n.2550G=
n.2494G=
9g.14842320C>GCA463877673FREM1c.1734G>C (p.Leu578=)
n.2520G>C
c.1761G>C (p.Leu587=)
c.1353G>C (p.Leu451=)
c.837G>C (p.Leu279=)
n.2547G>C
n.2550G>C
n.2494G>C
9g.14842320C>TCA463877674FREM1c.1734G>A (p.Leu578=)
n.2520G>A
c.1761G>A (p.Leu587=)
c.1353G>A (p.Leu451=)
c.837G>A (p.Leu279=)
n.2547G>A
n.2550G>A
n.2494G>A
 dbSNP gnomAD v2 gnomAD v4
9g.14842321A=CA1835222302FREM1c.1733T= (p.Leu578=)
n.2519T=
c.1760T= (p.Leu587=)
c.1352T= (p.Leu451=)
c.836T= (p.Leu279=)
n.2546T=
n.2549T=
n.2493T=
9g.14842321A>CCA372959879FREM1c.1733T>G (p.Leu578Arg)
n.2519T>G
c.1760T>G (p.Leu587Arg)
c.1352T>G (p.Leu451Arg)
c.836T>G (p.Leu279Arg)
n.2546T>G
n.2549T>G
n.2493T>G
9g.14842321A>GCA372959880FREM1c.1733T>C (p.Leu578Pro)
n.2519T>C
c.1760T>C (p.Leu587Pro)
c.1352T>C (p.Leu451Pro)
c.836T>C (p.Leu279Pro)
n.2546T>C
n.2549T>C
n.2493T>C
9g.14842321A>TCA372959882FREM1c.1733T>A (p.Leu578Gln)
n.2519T>A
c.1760T>A (p.Leu587Gln)
c.1352T>A (p.Leu451Gln)
c.836T>A (p.Leu279Gln)
n.2546T>A
n.2549T>A
n.2493T>A
 dbSNP gnomAD v2 gnomAD v4
9g.14842322G>ACA463877675FREM1c.1732C>T (p.Leu578=)
n.2518C>T
c.1759C>T (p.Leu587=)
c.1351C>T (p.Leu451=)
c.835C>T (p.Leu279=)
n.2545C>T
n.2548C>T
n.2492C>T
9g.14842322G>CCA372959884FREM1c.1732C>G (p.Leu578Val)
n.2518C>G
c.1759C>G (p.Leu587Val)
c.1351C>G (p.Leu451Val)
c.835C>G (p.Leu279Val)
n.2545C>G
n.2548C>G
n.2492C>G
9g.14842322G>TCA372959886FREM1c.1732C>A (p.Leu578Met)
n.2518C>A
c.1759C>A (p.Leu587Met)
c.1351C>A (p.Leu451Met)
c.835C>A (p.Leu279Met)
n.2545C>A
n.2548C>A
n.2492C>A
9g.14842323T>ACA463877676FREM1c.1731A>T (p.Gly577=)
n.2517A>T
c.1758A>T (p.Gly586=)
c.1350A>T (p.Gly450=)
c.834A>T (p.Gly278=)
n.2544A>T
n.2547A>T
n.2491A>T
9g.14842323T>CCA463877677FREM1c.1731A>G (p.Gly577=)
n.2517A>G
c.1758A>G (p.Gly586=)
c.1350A>G (p.Gly450=)
c.834A>G (p.Gly278=)
n.2544A>G
n.2547A>G
n.2491A>G
9g.14842323T>GCA463877678FREM1c.1731A>C (p.Gly577=)
n.2517A>C
c.1758A>C (p.Gly586=)
c.1350A>C (p.Gly450=)
c.834A>C (p.Gly278=)
n.2544A>C
n.2547A>C
n.2491A>C
9g.14842324C>ACA372959891FREM1c.1730G>T (p.Gly577Val)
n.2516G>T
c.1757G>T (p.Gly586Val)
c.1349G>T (p.Gly450Val)
c.833G>T (p.Gly278Val)
n.2543G>T
n.2546G>T
n.2490G>T
9g.14842324C>GCA372959887FREM1c.1730G>C (p.Gly577Ala)
n.2516G>C
c.1757G>C (p.Gly586Ala)
c.1349G>C (p.Gly450Ala)
c.833G>C (p.Gly278Ala)
n.2543G>C
n.2546G>C
n.2490G>C
9g.14842324C>TCA372959889FREM1c.1730G>A (p.Gly577Glu)
n.2516G>A
c.1757G>A (p.Gly586Glu)
c.1349G>A (p.Gly450Glu)
c.833G>A (p.Gly278Glu)
n.2543G>A
n.2546G>A
n.2490G>A
9g.14842325C>ACA372959892FREM1c.1729G>T (p.Gly577Ter)
n.2515G>T
c.1756G>T (p.Gly586Ter)
c.1348G>T (p.Gly450Ter)
c.832G>T (p.Gly278Ter)
n.2542G>T
n.2545G>T
n.2489G>T
9g.14842325C>GCA372959894FREM1c.1729G>C (p.Gly577Arg)
n.2515G>C
c.1756G>C (p.Gly586Arg)
c.1348G>C (p.Gly450Arg)
c.832G>C (p.Gly278Arg)
n.2542G>C
n.2545G>C
n.2489G>C
 gnomAD v4
9g.14842325C>TCA372959895FREM1c.1729G>A (p.Gly577Arg)
n.2515G>A
c.1756G>A (p.Gly586Arg)
c.1348G>A (p.Gly450Arg)
c.832G>A (p.Gly278Arg)
n.2542G>A
n.2545G>A
n.2489G>A
9g.14842326T>ACA463877679FREM1c.1728A>T (p.Pro576=)
n.2514A>T
c.1755A>T (p.Pro585=)
c.1347A>T (p.Pro449=)
c.831A>T (p.Pro277=)
n.2541A>T
n.2544A>T
n.2488A>T
9g.14842326T>CCA463877680FREM1c.1728A>G (p.Pro576=)
n.2514A>G
c.1755A>G (p.Pro585=)
c.1347A>G (p.Pro449=)
c.831A>G (p.Pro277=)
n.2541A>G
n.2544A>G
n.2488A>G
9g.14842326T>GCA463877681FREM1c.1728A>C (p.Pro576=)
n.2514A>C
c.1755A>C (p.Pro585=)
c.1347A>C (p.Pro449=)
c.831A>C (p.Pro277=)
n.2541A>C
n.2544A>C
n.2488A>C
9g.14842327G>ACA372959896FREM1c.1727C>T (p.Pro576Leu)
n.2513C>T
c.1754C>T (p.Pro585Leu)
c.1346C>T (p.Pro449Leu)
c.830C>T (p.Pro277Leu)
n.2540C>T
n.2543C>T
n.2487C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842327G>CCA372959898FREM1c.1727C>G (p.Pro576Arg)
n.2513C>G
c.1754C>G (p.Pro585Arg)
c.1346C>G (p.Pro449Arg)
c.830C>G (p.Pro277Arg)
n.2540C>G
n.2543C>G
n.2487C>G
9g.14842327G=CA1835222303FREM1c.1727C= (p.Pro576=)
n.2513C=
c.1754C= (p.Pro585=)
c.1346C= (p.Pro449=)
c.830C= (p.Pro277=)
n.2540C=
n.2543C=
n.2487C=
9g.14842327G>TCA4991167FREM1c.1727C>A (p.Pro576Gln)
n.2513C>A
c.1754C>A (p.Pro585Gln)
c.1346C>A (p.Pro449Gln)
c.830C>A (p.Pro277Gln)
n.2540C>A
n.2543C>A
n.2487C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842328G>ACA372959900FREM1c.1726C>T (p.Pro576Ser)
n.2512C>T
c.1753C>T (p.Pro585Ser)
c.1345C>T (p.Pro449Ser)
c.829C>T (p.Pro277Ser)
n.2539C>T
n.2542C>T
n.2486C>T
9g.14842328G>CCA372959901FREM1c.1726C>G (p.Pro576Ala)
n.2512C>G
c.1753C>G (p.Pro585Ala)
c.1345C>G (p.Pro449Ala)
c.829C>G (p.Pro277Ala)
n.2539C>G
n.2542C>G
n.2486C>G
9g.14842328G=CA1835222304FREM1c.1726C= (p.Pro576=)
n.2512C=
c.1753C= (p.Pro585=)
c.1345C= (p.Pro449=)
c.829C= (p.Pro277=)
n.2539C=
n.2542C=
n.2486C=
9g.14842328G>TCA372959903FREM1c.1726C>A (p.Pro576Thr)
n.2512C>A
c.1753C>A (p.Pro585Thr)
c.1345C>A (p.Pro449Thr)
c.829C>A (p.Pro277Thr)
n.2539C>A
n.2542C>A
n.2486C>A
 dbSNP gnomAD v4
9g.14842329C>ACA463877682FREM1c.1725G>T (p.Gly575=)
n.2511G>T
c.1752G>T (p.Gly584=)
c.1344G>T (p.Gly448=)
c.828G>T (p.Gly276=)
n.2538G>T
n.2541G>T
n.2485G>T
 gnomAD v4
9g.14842329C>GCA463877683FREM1c.1725G>C (p.Gly575=)
n.2511G>C
c.1752G>C (p.Gly584=)
c.1344G>C (p.Gly448=)
c.828G>C (p.Gly276=)
n.2538G>C
n.2541G>C
n.2485G>C
9g.14842329C>TCA463877684FREM1c.1725G>A (p.Gly575=)
n.2511G>A
c.1752G>A (p.Gly584=)
c.1344G>A (p.Gly448=)
c.828G>A (p.Gly276=)
n.2538G>A
n.2541G>A
n.2485G>A
 COSMIC
9g.14842330C>ACA372959904FREM1c.1724G>T (p.Gly575Val)
n.2510G>T
c.1751G>T (p.Gly584Val)
c.1343G>T (p.Gly448Val)
c.827G>T (p.Gly276Val)
n.2537G>T
n.2540G>T
n.2484G>T
9g.14842330C>GCA372959905FREM1c.1724G>C (p.Gly575Ala)
n.2510G>C
c.1751G>C (p.Gly584Ala)
c.1343G>C (p.Gly448Ala)
c.827G>C (p.Gly276Ala)
n.2537G>C
n.2540G>C
n.2484G>C
9g.14842330C>TCA372959907FREM1c.1724G>A (p.Gly575Glu)
n.2510G>A
c.1751G>A (p.Gly584Glu)
c.1343G>A (p.Gly448Glu)
c.827G>A (p.Gly276Glu)
n.2537G>A
n.2540G>A
n.2484G>A
 COSMIC
9g.14842331C>ACA372959912FREM1c.1723G>T (p.Gly575Trp)
n.2509G>T
c.1750G>T (p.Gly584Trp)
c.1342G>T (p.Gly448Trp)
c.826G>T (p.Gly276Trp)
n.2536G>T
n.2539G>T
n.2483G>T
9g.14842331C>GCA372959910FREM1c.1723G>C (p.Gly575Arg)
n.2509G>C
c.1750G>C (p.Gly584Arg)
c.1342G>C (p.Gly448Arg)
c.826G>C (p.Gly276Arg)
n.2536G>C
n.2539G>C
n.2483G>C
 gnomAD v4
9g.14842331C>TCA372959909FREM1c.1723G>A (p.Gly575Arg)
n.2509G>A
c.1750G>A (p.Gly584Arg)
c.1342G>A (p.Gly448Arg)
c.826G>A (p.Gly276Arg)
n.2536G>A
n.2539G>A
n.2483G>A
 COSMIC
9g.14842332T>ACA463877685FREM1c.1722A>T (p.Pro574=)
n.2508A>T
c.1749A>T (p.Pro583=)
c.1341A>T (p.Pro447=)
c.825A>T (p.Pro275=)
n.2535A>T
n.2538A>T
n.2482A>T
9g.14842332T>CCA463877686FREM1c.1722A>G (p.Pro574=)
n.2508A>G
c.1749A>G (p.Pro583=)
c.1341A>G (p.Pro447=)
c.825A>G (p.Pro275=)
n.2535A>G
n.2538A>G
n.2482A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842332T>GCA463877687FREM1c.1722A>C (p.Pro574=)
n.2508A>C
c.1749A>C (p.Pro583=)
c.1341A>C (p.Pro447=)
c.825A>C (p.Pro275=)
n.2535A>C
n.2538A>C
n.2482A>C
9g.14842332T=CA1835222305FREM1c.1722A= (p.Pro574=)
n.2508A=
c.1749A= (p.Pro583=)
c.1341A= (p.Pro447=)
c.825A= (p.Pro275=)
n.2535A=
n.2538A=
n.2482A=
9g.14842333G>ACA372959915FREM1c.1721C>T (p.Pro574Leu)
n.2507C>T
c.1748C>T (p.Pro583Leu)
c.1340C>T (p.Pro447Leu)
c.824C>T (p.Pro275Leu)
n.2534C>T
n.2537C>T
n.2481C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842333G>CCA372959913FREM1c.1721C>G (p.Pro574Arg)
n.2507C>G
c.1748C>G (p.Pro583Arg)
c.1340C>G (p.Pro447Arg)
c.824C>G (p.Pro275Arg)
n.2534C>G
n.2537C>G
n.2481C>G
9g.14842333G=CA1835222306FREM1c.1721C= (p.Pro574=)
n.2507C=
c.1748C= (p.Pro583=)
c.1340C= (p.Pro447=)
c.824C= (p.Pro275=)
n.2534C=
n.2537C=
n.2481C=
9g.14842333G>TCA372959917FREM1c.1721C>A (p.Pro574Gln)
n.2507C>A
c.1748C>A (p.Pro583Gln)
c.1340C>A (p.Pro447Gln)
c.824C>A (p.Pro275Gln)
n.2534C>A
n.2537C>A
n.2481C>A
9g.14842334G>ACA372959918FREM1c.1720C>T (p.Pro574Ser)
n.2506C>T
c.1747C>T (p.Pro583Ser)
c.1339C>T (p.Pro447Ser)
c.823C>T (p.Pro275Ser)
n.2533C>T
n.2536C>T
n.2480C>T
 gnomAD v4
9g.14842334G>CCA372959919FREM1c.1720C>G (p.Pro574Ala)
n.2506C>G
c.1747C>G (p.Pro583Ala)
c.1339C>G (p.Pro447Ala)
c.823C>G (p.Pro275Ala)
n.2533C>G
n.2536C>G
n.2480C>G
 gnomAD v4
9g.14842334G>TCA372959921FREM1c.1720C>A (p.Pro574Thr)
n.2506C>A
c.1747C>A (p.Pro583Thr)
c.1339C>A (p.Pro447Thr)
c.823C>A (p.Pro275Thr)
n.2533C>A
n.2536C>A
n.2480C>A
9g.14842335delCA2689439137FREM1c.1719del (p.Lys573AsnfsTer6)
n.2505del
c.1746del (p.Lys582AsnfsTer6)
c.1338del (p.Lys446AsnfsTer6)
c.822del (p.Lys274AsnfsTer6)
n.2532del
n.2535del
n.2479del
 gnomAD v4
9g.14842335C>ACA372959923FREM1c.1719G>T (p.Lys573Asn)
n.2505G>T
c.1746G>T (p.Lys582Asn)
c.1338G>T (p.Lys446Asn)
c.822G>T (p.Lys274Asn)
n.2532G>T
n.2535G>T
n.2479G>T
 gnomAD v4
9g.14842335C=CA1835222307FREM1c.1719G= (p.Lys573=)
n.2505G=
c.1746G= (p.Lys582=)
c.1338G= (p.Lys446=)
c.822G= (p.Lys274=)
n.2532G=
n.2535G=
n.2479G=
9g.14842335C>GCA372959924FREM1c.1719G>C (p.Lys573Asn)
n.2505G>C
c.1746G>C (p.Lys582Asn)
c.1338G>C (p.Lys446Asn)
c.822G>C (p.Lys274Asn)
n.2532G>C
n.2535G>C
n.2479G>C
9g.14842335C>TCA463877688FREM1c.1719G>A (p.Lys573=)
n.2505G>A
c.1746G>A (p.Lys582=)
c.1338G>A (p.Lys446=)
c.822G>A (p.Lys274=)
n.2532G>A
n.2535G>A
n.2479G>A
 dbSNP gnomAD v3 gnomAD v4
9g.14842339_14842341delCA2689439136FREM1c.1717_1719del (p.Lys573del)
n.2503_2505del
c.1744_1746del (p.Lys582del)
c.1336_1338del (p.Lys446del)
c.820_822del (p.Lys274del)
n.2530_2532del
n.2533_2535del
n.2477_2479del
 gnomAD v4
9g.14842336T>ACA372959926FREM1c.1718A>T (p.Lys573Met)
n.2504A>T
c.1745A>T (p.Lys582Met)
c.1337A>T (p.Lys446Met)
c.821A>T (p.Lys274Met)
n.2531A>T
n.2534A>T
n.2478A>T
9g.14842336T>CCA372959927FREM1c.1718A>G (p.Lys573Arg)
n.2504A>G
c.1745A>G (p.Lys582Arg)
c.1337A>G (p.Lys446Arg)
c.821A>G (p.Lys274Arg)
n.2531A>G
n.2534A>G
n.2478A>G
9g.14842336T>GCA372959928FREM1c.1718A>C (p.Lys573Thr)
n.2504A>C
c.1745A>C (p.Lys582Thr)
c.1337A>C (p.Lys446Thr)
c.821A>C (p.Lys274Thr)
n.2531A>C
n.2534A>C
n.2478A>C
9g.14842337T>ACA372959929FREM1c.1717A>T (p.Lys573Ter)
n.2503A>T
c.1744A>T (p.Lys582Ter)
c.1336A>T (p.Lys446Ter)
c.820A>T (p.Lys274Ter)
n.2530A>T
n.2533A>T
n.2477A>T
9g.14842337T>CCA372959930FREM1c.1717A>G (p.Lys573Glu)
n.2503A>G
c.1744A>G (p.Lys582Glu)
c.1336A>G (p.Lys446Glu)
c.820A>G (p.Lys274Glu)
n.2530A>G
n.2533A>G
n.2477A>G
9g.14842337T>GCA372959931FREM1c.1717A>C (p.Lys573Gln)
n.2503A>C
c.1744A>C (p.Lys582Gln)
c.1336A>C (p.Lys446Gln)
c.820A>C (p.Lys274Gln)
n.2530A>C
n.2533A>C
n.2477A>C
9g.14842338C>ACA372959932FREM1c.1716G>T (p.Lys572Asn)
n.2502G>T
c.1743G>T (p.Lys581Asn)
c.1335G>T (p.Lys445Asn)
c.819G>T (p.Lys273Asn)
n.2529G>T
n.2532G>T
n.2476G>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842338C=CA1835222308FREM1c.1716G= (p.Lys572=)
n.2502G=
c.1743G= (p.Lys581=)
c.1335G= (p.Lys445=)
c.819G= (p.Lys273=)
n.2529G=
n.2532G=
n.2476G=
9g.14842338C>GCA372959933FREM1c.1716G>C (p.Lys572Asn)
n.2502G>C
c.1743G>C (p.Lys581Asn)
c.1335G>C (p.Lys445Asn)
c.819G>C (p.Lys273Asn)
n.2529G>C
n.2532G>C
n.2476G>C
9g.14842338C>TCA463877689FREM1c.1716G>A (p.Lys572=)
n.2502G>A
c.1743G>A (p.Lys581=)
c.1335G>A (p.Lys445=)
c.819G>A (p.Lys273=)
n.2529G>A
n.2532G>A
n.2476G>A
 gnomAD v4
9g.14842339T>ACA372959937FREM1c.1715A>T (p.Lys572Met)
n.2501A>T
c.1742A>T (p.Lys581Met)
c.1334A>T (p.Lys445Met)
c.818A>T (p.Lys273Met)
n.2528A>T
n.2531A>T
n.2475A>T
9g.14842339T>CCA4991168FREM1c.1715A>G (p.Lys572Arg)
n.2501A>G
c.1742A>G (p.Lys581Arg)
c.1334A>G (p.Lys445Arg)
c.818A>G (p.Lys273Arg)
n.2528A>G
n.2531A>G
n.2475A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842339T>GCA372959935FREM1c.1715A>C (p.Lys572Thr)
n.2501A>C
c.1742A>C (p.Lys581Thr)
c.1334A>C (p.Lys445Thr)
c.818A>C (p.Lys273Thr)
n.2528A>C
n.2531A>C
n.2475A>C
9g.14842339T=CA1835222309FREM1c.1715A= (p.Lys572=)
n.2501A=
c.1742A= (p.Lys581=)
c.1334A= (p.Lys445=)
c.818A= (p.Lys273=)
n.2528A=
n.2531A=
n.2475A=
9g.14842340T>ACA372959938FREM1c.1714A>T (p.Lys572Ter)
n.2500A>T
c.1741A>T (p.Lys581Ter)
c.1333A>T (p.Lys445Ter)
c.817A>T (p.Lys273Ter)
n.2527A>T
n.2530A>T
n.2474A>T
9g.14842340T>CCA372959939FREM1c.1714A>G (p.Lys572Glu)
n.2500A>G
c.1741A>G (p.Lys581Glu)
c.1333A>G (p.Lys445Glu)
c.817A>G (p.Lys273Glu)
n.2527A>G
n.2530A>G
n.2474A>G
9g.14842340T>GCA372959941FREM1c.1714A>C (p.Lys572Gln)
n.2500A>C
c.1741A>C (p.Lys581Gln)
c.1333A>C (p.Lys445Gln)
c.817A>C (p.Lys273Gln)
n.2527A>C
n.2530A>C
n.2474A>C
9g.14842341C>ACA372959942FREM1c.1713G>T (p.Met571Ile)
n.2499G>T
c.1740G>T (p.Met580Ile)
c.1332G>T (p.Met444Ile)
c.816G>T (p.Met272Ile)
n.2526G>T
n.2529G>T
n.2473G>T
9g.14842341C>GCA372959943FREM1c.1713G>C (p.Met571Ile)
n.2499G>C
c.1740G>C (p.Met580Ile)
c.1332G>C (p.Met444Ile)
c.816G>C (p.Met272Ile)
n.2526G>C
n.2529G>C
n.2473G>C
9g.14842341C>TCA372959945FREM1c.1713G>A (p.Met571Ile)
n.2499G>A
c.1740G>A (p.Met580Ile)
c.1332G>A (p.Met444Ile)
c.816G>A (p.Met272Ile)
n.2526G>A
n.2529G>A
n.2473G>A
 COSMIC
9g.14842342A=CA1835222310FREM1c.1712T= (p.Met571=)
n.2498T=
c.1739T= (p.Met580=)
c.1331T= (p.Met444=)
c.815T= (p.Met272=)
n.2525T=
n.2528T=
n.2472T=
9g.14842342A>CCA372959947FREM1c.1712T>G (p.Met571Arg)
n.2498T>G
c.1739T>G (p.Met580Arg)
c.1331T>G (p.Met444Arg)
c.815T>G (p.Met272Arg)
n.2525T>G
n.2528T>G
n.2472T>G
9g.14842342A>GCA372959948FREM1c.1712T>C (p.Met571Thr)
n.2498T>C
c.1739T>C (p.Met580Thr)
c.1331T>C (p.Met444Thr)
c.815T>C (p.Met272Thr)
n.2525T>C
n.2528T>C
n.2472T>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842342A>TCA372959950FREM1c.1712T>A (p.Met571Lys)
n.2498T>A
c.1739T>A (p.Met580Lys)
c.1331T>A (p.Met444Lys)
c.815T>A (p.Met272Lys)
n.2525T>A
n.2528T>A
n.2472T>A
9g.14842343T>ACA372959951FREM1c.1711A>T (p.Met571Leu)
n.2497A>T
c.1738A>T (p.Met580Leu)
c.1330A>T (p.Met444Leu)
c.814A>T (p.Met272Leu)
n.2524A>T
n.2527A>T
n.2471A>T
9g.14842343T>CCA372959952FREM1c.1711A>G (p.Met571Val)
n.2497A>G
c.1738A>G (p.Met580Val)
c.1330A>G (p.Met444Val)
c.814A>G (p.Met272Val)
n.2524A>G
n.2527A>G
n.2471A>G
 ClinVar dbSNP
9g.14842343T>GCA372959954FREM1c.1711A>C (p.Met571Leu)
n.2497A>C
c.1738A>C (p.Met580Leu)
c.1330A>C (p.Met444Leu)
c.814A>C (p.Met272Leu)
n.2524A>C
n.2527A>C
n.2471A>C
9g.14842343T=CA1835222311FREM1c.1711A= (p.Met571=)
n.2497A=
c.1738A= (p.Met580=)
c.1330A= (p.Met444=)
c.814A= (p.Met272=)
n.2524A=
n.2527A=
n.2471A=
9g.14842344G>ACA463877690FREM1c.1710C>T (p.Ile570=)
n.2496C>T
c.1737C>T (p.Ile579=)
c.1329C>T (p.Ile443=)
c.813C>T (p.Ile271=)
n.2523C>T
n.2526C>T
n.2470C>T
9g.14842344G>CCA372959956FREM1c.1710C>G (p.Ile570Met)
n.2496C>G
c.1737C>G (p.Ile579Met)
c.1329C>G (p.Ile443Met)
c.813C>G (p.Ile271Met)
n.2523C>G
n.2526C>G
n.2470C>G
 gnomAD v4
9g.14842344G>TCA463877691FREM1c.1710C>A (p.Ile570=)
n.2496C>A
c.1737C>A (p.Ile579=)
c.1329C>A (p.Ile443=)
c.813C>A (p.Ile271=)
n.2523C>A
n.2526C>A
n.2470C>A
9g.14842345A=CA1835222312FREM1c.1709T= (p.Ile570=)
n.2495T=
c.1736T= (p.Ile579=)
c.1328T= (p.Ile443=)
c.812T= (p.Ile271=)
n.2522T=
n.2525T=
n.2469T=
9g.14842345A>CCA372959960FREM1c.1709T>G (p.Ile570Ser)
n.2495T>G
c.1736T>G (p.Ile579Ser)
c.1328T>G (p.Ile443Ser)
c.812T>G (p.Ile271Ser)
n.2522T>G
n.2525T>G
n.2469T>G
9g.14842345A>GCA372959957FREM1c.1709T>C (p.Ile570Thr)
n.2495T>C
c.1736T>C (p.Ile579Thr)
c.1328T>C (p.Ile443Thr)
c.812T>C (p.Ile271Thr)
n.2522T>C
n.2525T>C
n.2469T>C
 dbSNP gnomAD v4
9g.14842345A>TCA372959959FREM1c.1709T>A (p.Ile570Asn)
n.2495T>A
c.1736T>A (p.Ile579Asn)
c.1328T>A (p.Ile443Asn)
c.812T>A (p.Ile271Asn)
n.2522T>A
n.2525T>A
n.2469T>A
 gnomAD v4
9g.14842346T>ACA372959961FREM1c.1708A>T (p.Ile570Phe)
n.2494A>T
c.1735A>T (p.Ile579Phe)
c.1327A>T (p.Ile443Phe)
c.811A>T (p.Ile271Phe)
n.2521A>T
n.2524A>T
n.2468A>T
9g.14842346T>CCA372959962FREM1c.1708A>G (p.Ile570Val)
n.2494A>G
c.1735A>G (p.Ile579Val)
c.1327A>G (p.Ile443Val)
c.811A>G (p.Ile271Val)
n.2521A>G
n.2524A>G
n.2468A>G
9g.14842346T>GCA372959963FREM1c.1708A>C (p.Ile570Leu)
n.2494A>C
c.1735A>C (p.Ile579Leu)
c.1327A>C (p.Ile443Leu)
c.811A>C (p.Ile271Leu)
n.2521A>C
n.2524A>C
n.2468A>C
 gnomAD v4
9g.14842347C>ACA372959968FREM1c.1707G>T (p.Glu569Asp)
n.2493G>T
c.1734G>T (p.Glu578Asp)
c.1326G>T (p.Glu442Asp)
c.810G>T (p.Glu270Asp)
n.2520G>T
n.2523G>T
n.2467G>T
 gnomAD v4
9g.14842347C=CA1835222313FREM1c.1707G= (p.Glu569=)
n.2493G=
c.1734G= (p.Glu578=)
c.1326G= (p.Glu442=)
c.810G= (p.Glu270=)
n.2520G=
n.2523G=
n.2467G=
9g.14842347C>GCA372959966FREM1c.1707G>C (p.Glu569Asp)
n.2493G>C
c.1734G>C (p.Glu578Asp)
c.1326G>C (p.Glu442Asp)
c.810G>C (p.Glu270Asp)
n.2520G>C
n.2523G>C
n.2467G>C
9g.14842347C>TCA189364127FREM1c.1707G>A (p.Glu569=)
n.2493G>A
c.1734G>A (p.Glu578=)
c.1326G>A (p.Glu442=)
c.810G>A (p.Glu270=)
n.2520G>A
n.2523G>A
n.2467G>A
 dbSNP gnomAD v4
9g.14842348_14842355dupCA2579304632FREM1c.1700_1707dup (p.Ile570LeufsTer5)
n.2486_2493dup
c.1727_1734dup (p.Ile579LeufsTer5)
c.1319_1326dup (p.Ile443LeufsTer5)
c.803_810dup (p.Ile271LeufsTer5)
n.2513_2520dup
n.2516_2523dup
n.2460_2467dup
9g.14842348T>ACA372959969FREM1c.1706A>T (p.Glu569Val)
n.2492A>T
c.1733A>T (p.Glu578Val)
c.1325A>T (p.Glu442Val)
c.809A>T (p.Glu270Val)
n.2519A>T
n.2522A>T
n.2466A>T
9g.14842348T>CCA372959971FREM1c.1706A>G (p.Glu569Gly)
n.2492A>G
c.1733A>G (p.Glu578Gly)
c.1325A>G (p.Glu442Gly)
c.809A>G (p.Glu270Gly)
n.2519A>G
n.2522A>G
n.2466A>G
9g.14842348T>GCA372959972FREM1c.1706A>C (p.Glu569Ala)
n.2492A>C
c.1733A>C (p.Glu578Ala)
c.1325A>C (p.Glu442Ala)
c.809A>C (p.Glu270Ala)
n.2519A>C
n.2522A>C
n.2466A>C
9g.14842348_14842349delinsTCCA1835222314FREM1c.1705_1706delinsGA (p.Glu569=)
n.2491_2492delinsGA
c.1732_1733delinsGA (p.Glu578=)
c.1324_1325delinsGA (p.Glu442=)
c.808_809delinsGA (p.Glu270=)
n.2518_2519delinsGA
n.2521_2522delinsGA
n.2465_2466delinsGA
9g.14842349C>ACA372959975FREM1c.1705G>T (p.Glu569Ter)
n.2491G>T
c.1732G>T (p.Glu578Ter)
c.1324G>T (p.Glu442Ter)
c.808G>T (p.Glu270Ter)
n.2518G>T
n.2521G>T
n.2465G>T
9g.14842349C=CA1835222315FREM1c.1705G= (p.Glu569=)
n.2491G=
c.1732G= (p.Glu578=)
c.1324G= (p.Glu442=)
c.808G= (p.Glu270=)
n.2518G=
n.2521G=
n.2465G=
9g.14842349C>GCA372959976FREM1c.1705G>C (p.Glu569Gln)
n.2491G>C
c.1732G>C (p.Glu578Gln)
c.1324G>C (p.Glu442Gln)
c.808G>C (p.Glu270Gln)
n.2518G>C
n.2521G>C
n.2465G>C
9g.14842349C>TCA372959978FREM1c.1705G>A (p.Glu569Lys)
n.2491G>A
c.1732G>A (p.Glu578Lys)
c.1324G>A (p.Glu442Lys)
c.808G>A (p.Glu270Lys)
n.2518G>A
n.2521G>A
n.2465G>A
 dbSNP gnomAD v4 COSMIC
9g.14842352delCA586243398FREM1c.1705del (p.Glu569ArgfsTer3)
n.2491del
c.1732del (p.Glu578ArgfsTer3)
c.1324del (p.Glu442ArgfsTer3)
c.808del (p.Glu270ArgfsTer3)
n.2518del
n.2521del
n.2465del
 dbSNP gnomAD v2
9g.14842350C>ACA463877692FREM1c.1704G>T (p.Gly568=)
n.2490G>T
c.1731G>T (p.Gly577=)
c.1323G>T (p.Gly441=)
c.807G>T (p.Gly269=)
n.2517G>T
n.2520G>T
n.2464G>T
9g.14842350C=CA1835222316FREM1c.1704G= (p.Gly568=)
n.2490G=
c.1731G= (p.Gly577=)
c.1323G= (p.Gly441=)
c.807G= (p.Gly269=)
n.2517G=
n.2520G=
n.2464G=
9g.14842350C>GCA463877693FREM1c.1704G>C (p.Gly568=)
n.2490G>C
c.1731G>C (p.Gly577=)
c.1323G>C (p.Gly441=)
c.807G>C (p.Gly269=)
n.2517G>C
n.2520G>C
n.2464G>C
9g.14842350C>TCA463877694FREM1c.1704G>A (p.Gly568=)
n.2490G>A
c.1731G>A (p.Gly577=)
c.1323G>A (p.Gly441=)
c.807G>A (p.Gly269=)
n.2517G>A
n.2520G>A
n.2464G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.14842351C>ACA372959980FREM1c.1703G>T (p.Gly568Val)
n.2489G>T
c.1730G>T (p.Gly577Val)
c.1322G>T (p.Gly441Val)
c.806G>T (p.Gly269Val)
n.2516G>T
n.2519G>T
n.2463G>T
9g.14842351C>GCA372959983FREM1c.1703G>C (p.Gly568Ala)
n.2489G>C
c.1730G>C (p.Gly577Ala)
c.1322G>C (p.Gly441Ala)
c.806G>C (p.Gly269Ala)
n.2516G>C
n.2519G>C
n.2463G>C
9g.14842351C>TCA372959982FREM1c.1703G>A (p.Gly568Glu)
n.2489G>A
c.1730G>A (p.Gly577Glu)
c.1322G>A (p.Gly441Glu)
c.806G>A (p.Gly269Glu)
n.2516G>A
n.2519G>A
n.2463G>A
9g.14842352C>ACA372960056FREM1c.1702G>T (p.Gly568Trp)
n.2488G>T
c.1729G>T (p.Gly577Trp)
c.1321G>T (p.Gly441Trp)
c.805G>T (p.Gly269Trp)
n.2515G>T
n.2518G>T
n.2462G>T
9g.14842352C>GCA372960057FREM1c.1702G>C (p.Gly568Arg)
n.2488G>C
c.1729G>C (p.Gly577Arg)
c.1321G>C (p.Gly441Arg)
c.805G>C (p.Gly269Arg)
n.2515G>C
n.2518G>C
n.2462G>C
9g.14842352C>TCA372960058FREM1c.1702G>A (p.Gly568Arg)
n.2488G>A
c.1729G>A (p.Gly577Arg)
c.1321G>A (p.Gly441Arg)
c.805G>A (p.Gly269Arg)
n.2515G>A
n.2518G>A
n.2462G>A
9g.14842352_14842363delinsCAGCCTGTGGAGCA1835222317FREM1c.1691_1702delinsCTCCACAGGCTG (p.Pro564=)
n.2477_2488delinsCTCCACAGGCTG
c.1718_1729delinsCTCCACAGGCTG (p.Pro573=)
c.1310_1321delinsCTCCACAGGCTG (p.Pro437=)
c.794_805delinsCTCCACAGGCTG (p.Pro265=)
n.2504_2515delinsCTCCACAGGCTG
n.2507_2518delinsCTCCACAGGCTG
n.2451_2462delinsCTCCACAGGCTG
9g.14842353A=CA1835222318FREM1c.1701T= (p.Ala567=)
n.2487T=
c.1728T= (p.Ala576=)
c.1320T= (p.Ala440=)
c.804T= (p.Ala268=)
n.2514T=
n.2517T=
n.2461T=
9g.14842353A>CCA4991169FREM1c.1701T>G (p.Ala567=)
n.2487T>G
c.1728T>G (p.Ala576=)
c.1320T>G (p.Ala440=)
c.804T>G (p.Ala268=)
n.2514T>G
n.2517T>G
n.2461T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842353A>GCA464024320FREM1c.1701T>C (p.Ala567=)
n.2487T>C
c.1728T>C (p.Ala576=)
c.1320T>C (p.Ala440=)
c.804T>C (p.Ala268=)
n.2514T>C
n.2517T>C
n.2461T>C
9g.14842353A>TCA464024321FREM1c.1701T>A (p.Ala567=)
n.2487T>A
c.1728T>A (p.Ala576=)
c.1320T>A (p.Ala440=)
c.804T>A (p.Ala268=)
n.2514T>A
n.2517T>A
n.2461T>A
 gnomAD v4
9g.14842353_14842363delCA586637835FREM1c.1691_1701del (p.Pro564ArgfsTer26)
n.2477_2487del
c.1718_1728del (p.Pro573ArgfsTer26)
c.1310_1320del (p.Pro437ArgfsTer26)
c.794_804del (p.Pro265ArgfsTer26)
n.2504_2514del
n.2507_2517del
n.2451_2461del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842354G>ACA372960059FREM1c.1700C>T (p.Ala567Val)
n.2486C>T
c.1727C>T (p.Ala576Val)
c.1319C>T (p.Ala440Val)
c.803C>T (p.Ala268Val)
n.2513C>T
n.2516C>T
n.2460C>T
 gnomAD v4
9g.14842354G>CCA372960060FREM1c.1700C>G (p.Ala567Gly)
n.2486C>G
c.1727C>G (p.Ala576Gly)
c.1319C>G (p.Ala440Gly)
c.803C>G (p.Ala268Gly)
n.2513C>G
n.2516C>G
n.2460C>G
9g.14842354G>TCA372960061FREM1c.1700C>A (p.Ala567Asp)
n.2486C>A
c.1727C>A (p.Ala576Asp)
c.1319C>A (p.Ala440Asp)
c.803C>A (p.Ala268Asp)
n.2513C>A
n.2516C>A
n.2460C>A
9g.14842355C>ACA372960062FREM1c.1699G>T (p.Ala567Ser)
n.2485G>T
c.1726G>T (p.Ala576Ser)
c.1318G>T (p.Ala440Ser)
c.802G>T (p.Ala268Ser)
n.2512G>T
n.2515G>T
n.2459G>T
9g.14842355C>GCA372960063FREM1c.1699G>C (p.Ala567Pro)
n.2485G>C
c.1726G>C (p.Ala576Pro)
c.1318G>C (p.Ala440Pro)
c.802G>C (p.Ala268Pro)
n.2512G>C
n.2515G>C
n.2459G>C
9g.14842355C>TCA372960064FREM1c.1699G>A (p.Ala567Thr)
n.2485G>A
c.1726G>A (p.Ala576Thr)
c.1318G>A (p.Ala440Thr)
c.802G>A (p.Ala268Thr)
n.2512G>A
n.2515G>A
n.2459G>A
 gnomAD v4
9g.14842356C>ACA372960065FREM1c.1698G>T (p.Gln566His)
n.2484G>T
c.1725G>T (p.Gln575His)
c.1317G>T (p.Gln439His)
c.801G>T (p.Gln267His)
n.2511G>T
n.2514G>T
n.2458G>T
9g.14842356C>GCA372960066FREM1c.1698G>C (p.Gln566His)
n.2484G>C
c.1725G>C (p.Gln575His)
c.1317G>C (p.Gln439His)
c.801G>C (p.Gln267His)
n.2511G>C
n.2514G>C
n.2458G>C
9g.14842356C>TCA464024327FREM1c.1698G>A (p.Gln566=)
n.2484G>A
c.1725G>A (p.Gln575=)
c.1317G>A (p.Gln439=)
c.801G>A (p.Gln267=)
n.2511G>A
n.2514G>A
n.2458G>A
9g.14842357T>ACA372960068FREM1c.1697A>T (p.Gln566Leu)
n.2483A>T
c.1724A>T (p.Gln575Leu)
c.1316A>T (p.Gln439Leu)
c.800A>T (p.Gln267Leu)
n.2510A>T
n.2513A>T
n.2457A>T
9g.14842357T>CCA372960069FREM1c.1697A>G (p.Gln566Arg)
n.2483A>G
c.1724A>G (p.Gln575Arg)
c.1316A>G (p.Gln439Arg)
c.800A>G (p.Gln267Arg)
n.2510A>G
n.2513A>G
n.2457A>G
9g.14842357T>GCA372960067FREM1c.1697A>C (p.Gln566Pro)
n.2483A>C
c.1724A>C (p.Gln575Pro)
c.1316A>C (p.Gln439Pro)
c.800A>C (p.Gln267Pro)
n.2510A>C
n.2513A>C
n.2457A>C
9g.14842358G>ACA372960070FREM1c.1696C>T (p.Gln566Ter)
n.2482C>T
c.1723C>T (p.Gln575Ter)
c.1315C>T (p.Gln439Ter)
c.799C>T (p.Gln267Ter)
n.2509C>T
n.2512C>T
n.2456C>T
9g.14842358G>CCA372960072FREM1c.1696C>G (p.Gln566Glu)
n.2482C>G
c.1723C>G (p.Gln575Glu)
c.1315C>G (p.Gln439Glu)
c.799C>G (p.Gln267Glu)
n.2509C>G
n.2512C>G
n.2456C>G
9g.14842358G>TCA372960071FREM1c.1696C>A (p.Gln566Lys)
n.2482C>A
c.1723C>A (p.Gln575Lys)
c.1315C>A (p.Gln439Lys)
c.799C>A (p.Gln267Lys)
n.2509C>A
n.2512C>A
n.2456C>A
 ClinVar
9g.14842359T>ACA464024330FREM1c.1695A>T (p.Pro565=)
n.2481A>T
c.1722A>T (p.Pro574=)
c.1314A>T (p.Pro438=)
c.798A>T (p.Pro266=)
n.2508A>T
n.2511A>T
n.2455A>T
9g.14842359T>CCA464024332FREM1c.1695A>G (p.Pro565=)
n.2481A>G
c.1722A>G (p.Pro574=)
c.1314A>G (p.Pro438=)
c.798A>G (p.Pro266=)
n.2508A>G
n.2511A>G
n.2455A>G
9g.14842359T>GCA189364133FREM1c.1695A>C (p.Pro565=)
n.2481A>C
c.1722A>C (p.Pro574=)
c.1314A>C (p.Pro438=)
c.798A>C (p.Pro266=)
n.2508A>C
n.2511A>C
n.2455A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842359T=CA1835222319FREM1c.1695A= (p.Pro565=)
n.2481A=
c.1722A= (p.Pro574=)
c.1314A= (p.Pro438=)
c.798A= (p.Pro266=)
n.2508A=
n.2511A=
n.2455A=
9g.14842360G>ACA372960073FREM1c.1694C>T (p.Pro565Leu)
n.2480C>T
c.1721C>T (p.Pro574Leu)
c.1313C>T (p.Pro438Leu)
c.797C>T (p.Pro266Leu)
n.2507C>T
n.2510C>T
n.2454C>T
9g.14842360G>CCA372960075FREM1c.1694C>G (p.Pro565Arg)
n.2480C>G
c.1721C>G (p.Pro574Arg)
c.1313C>G (p.Pro438Arg)
c.797C>G (p.Pro266Arg)
n.2507C>G
n.2510C>G
n.2454C>G
9g.14842360G>TCA372960074FREM1c.1694C>A (p.Pro565Gln)
n.2480C>A
c.1721C>A (p.Pro574Gln)
c.1313C>A (p.Pro438Gln)
c.797C>A (p.Pro266Gln)
n.2507C>A
n.2510C>A
n.2454C>A
9g.14842361G>ACA372960076FREM1c.1693C>T (p.Pro565Ser)
n.2479C>T
c.1720C>T (p.Pro574Ser)
c.1312C>T (p.Pro438Ser)
c.796C>T (p.Pro266Ser)
n.2506C>T
n.2509C>T
n.2453C>T
 dbSNP gnomAD v4 COSMIC
9g.14842361G>CCA372960077FREM1c.1693C>G (p.Pro565Ala)
n.2479C>G
c.1720C>G (p.Pro574Ala)
c.1312C>G (p.Pro438Ala)
c.796C>G (p.Pro266Ala)
n.2506C>G
n.2509C>G
n.2453C>G
 gnomAD v4
9g.14842361G=CA1835222320FREM1c.1693C= (p.Pro565=)
n.2479C=
c.1720C= (p.Pro574=)
c.1312C= (p.Pro438=)
c.796C= (p.Pro266=)
n.2506C=
n.2509C=
n.2453C=
9g.14842361G>TCA372960078FREM1c.1693C>A (p.Pro565Thr)
n.2479C>A
c.1720C>A (p.Pro574Thr)
c.1312C>A (p.Pro438Thr)
c.796C>A (p.Pro266Thr)
n.2506C>A
n.2509C>A
n.2453C>A
9g.14842362A>CCA464024338FREM1c.1692T>G (p.Pro564=)
n.2478T>G
c.1719T>G (p.Pro573=)
c.1311T>G (p.Pro437=)
c.795T>G (p.Pro265=)
n.2505T>G
n.2508T>G
n.2452T>G
9g.14842362A>GCA464024339FREM1c.1692T>C (p.Pro564=)
n.2478T>C
c.1719T>C (p.Pro573=)
c.1311T>C (p.Pro437=)
c.795T>C (p.Pro265=)
n.2505T>C
n.2508T>C
n.2452T>C
9g.14842362A>TCA464024347FREM1c.1692T>A (p.Pro564=)
n.2478T>A
c.1719T>A (p.Pro573=)
c.1311T>A (p.Pro437=)
c.795T>A (p.Pro265=)
n.2505T>A
n.2508T>A
n.2452T>A
9g.14842363G>ACA189364145FREM1c.1691C>T (p.Pro564Leu)
n.2477C>T
c.1718C>T (p.Pro573Leu)
c.1310C>T (p.Pro437Leu)
c.794C>T (p.Pro265Leu)
n.2504C>T
n.2507C>T
n.2451C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842363G>CCA372960079FREM1c.1691C>G (p.Pro564Arg)
n.2477C>G
c.1718C>G (p.Pro573Arg)
c.1310C>G (p.Pro437Arg)
c.794C>G (p.Pro265Arg)
n.2504C>G
n.2507C>G
n.2451C>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842363G=CA1835222321FREM1c.1691C= (p.Pro564=)
n.2477C=
c.1718C= (p.Pro573=)
c.1310C= (p.Pro437=)
c.794C= (p.Pro265=)
n.2504C=
n.2507C=
n.2451C=
9g.14842363G>TCA4991170FREM1c.1691C>A (p.Pro564His)
n.2477C>A
c.1718C>A (p.Pro573His)
c.1310C>A (p.Pro437His)
c.794C>A (p.Pro265His)
n.2504C>A
n.2507C>A
n.2451C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842364G>ACA4991171FREM1c.1690C>T (p.Pro564Ser)
n.2476C>T
c.1717C>T (p.Pro573Ser)
c.1309C>T (p.Pro437Ser)
c.793C>T (p.Pro265Ser)
n.2503C>T
n.2506C>T
n.2450C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842364G>CCA372960080FREM1c.1690C>G (p.Pro564Ala)
n.2476C>G
c.1717C>G (p.Pro573Ala)
c.1309C>G (p.Pro437Ala)
c.793C>G (p.Pro265Ala)
n.2503C>G
n.2506C>G
n.2450C>G
 gnomAD v4
9g.14842364G=CA1835222322FREM1c.1690C= (p.Pro564=)
n.2476C=
c.1717C= (p.Pro573=)
c.1309C= (p.Pro437=)
c.793C= (p.Pro265=)
n.2503C=
n.2506C=
n.2450C=
9g.14842364G>TCA372960081FREM1c.1690C>A (p.Pro564Thr)
n.2476C>A
c.1717C>A (p.Pro573Thr)
c.1309C>A (p.Pro437Thr)
c.793C>A (p.Pro265Thr)
n.2503C>A
n.2506C>A
n.2450C>A
9g.14842365C>ACA372960082FREM1c.1689G>T (p.Lys563Asn)
n.2475G>T
c.1716G>T (p.Lys572Asn)
c.1308G>T (p.Lys436Asn)
c.792G>T (p.Lys264Asn)
n.2502G>T
n.2505G>T
n.2449G>T
9g.14842365C=CA1835222323FREM1c.1689G= (p.Lys563=)
n.2475G=
c.1716G= (p.Lys572=)
c.1308G= (p.Lys436=)
c.792G= (p.Lys264=)
n.2502G=
n.2505G=
n.2449G=
9g.14842365C>GCA372960083FREM1c.1689G>C (p.Lys563Asn)
n.2475G>C
c.1716G>C (p.Lys572Asn)
c.1308G>C (p.Lys436Asn)
c.792G>C (p.Lys264Asn)
n.2502G>C
n.2505G>C
n.2449G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842365C>TCA464024355FREM1c.1689G>A (p.Lys563=)
n.2475G>A
c.1716G>A (p.Lys572=)
c.1308G>A (p.Lys436=)
c.792G>A (p.Lys264=)
n.2502G>A
n.2505G>A
n.2449G>A
9g.14842366T>ACA372960086FREM1c.1688A>T (p.Lys563Met)
n.2474A>T
c.1715A>T (p.Lys572Met)
c.1307A>T (p.Lys436Met)
c.791A>T (p.Lys264Met)
n.2501A>T
n.2504A>T
n.2448A>T
9g.14842366T>CCA372960084FREM1c.1688A>G (p.Lys563Arg)
n.2474A>G
c.1715A>G (p.Lys572Arg)
c.1307A>G (p.Lys436Arg)
c.791A>G (p.Lys264Arg)
n.2501A>G
n.2504A>G
n.2448A>G
9g.14842366T>GCA372960085FREM1c.1688A>C (p.Lys563Thr)
n.2474A>C
c.1715A>C (p.Lys572Thr)
c.1307A>C (p.Lys436Thr)
c.791A>C (p.Lys264Thr)
n.2501A>C
n.2504A>C
n.2448A>C
9g.14842367T>ACA372960087FREM1c.1687A>T (p.Lys563Ter)
n.2473A>T
c.1714A>T (p.Lys572Ter)
c.1306A>T (p.Lys436Ter)
c.790A>T (p.Lys264Ter)
n.2500A>T
n.2503A>T
n.2447A>T
9g.14842367T>CCA189364161FREM1c.1687A>G (p.Lys563Glu)
n.2473A>G
c.1714A>G (p.Lys572Glu)
c.1306A>G (p.Lys436Glu)
c.790A>G (p.Lys264Glu)
n.2500A>G
n.2503A>G
n.2447A>G
 dbSNP gnomAD v4
9g.14842367T>GCA372960088FREM1c.1687A>C (p.Lys563Gln)
n.2473A>C
c.1714A>C (p.Lys572Gln)
c.1306A>C (p.Lys436Gln)
c.790A>C (p.Lys264Gln)
n.2500A>C
n.2503A>C
n.2447A>C
9g.14842367T=CA1835222324FREM1c.1687A= (p.Lys563=)
n.2473A=
c.1714A= (p.Lys572=)
c.1306A= (p.Lys436=)
c.790A= (p.Lys264=)
n.2500A=
n.2503A=
n.2447A=
9g.14842368T>ACA464024357FREM1c.1686A>T (p.Thr562=)
n.2472A>T
c.1713A>T (p.Thr571=)
c.1305A>T (p.Thr435=)
c.789A>T (p.Thr263=)
n.2499A>T
n.2502A>T
n.2446A>T
9g.14842368T>CCA464024359FREM1c.1686A>G (p.Thr562=)
n.2472A>G
c.1713A>G (p.Thr571=)
c.1305A>G (p.Thr435=)
c.789A>G (p.Thr263=)
n.2499A>G
n.2502A>G
n.2446A>G
9g.14842368T>GCA464024362FREM1c.1686A>C (p.Thr562=)
n.2472A>C
c.1713A>C (p.Thr571=)
c.1305A>C (p.Thr435=)
c.789A>C (p.Thr263=)
n.2499A>C
n.2502A>C
n.2446A>C
9g.14842369G>ACA372960089FREM1c.1685C>T (p.Thr562Ile)
n.2471C>T
c.1712C>T (p.Thr571Ile)
c.1304C>T (p.Thr435Ile)
c.788C>T (p.Thr263Ile)
n.2498C>T
n.2501C>T
n.2445C>T
 gnomAD v4
9g.14842369G>CCA372960090FREM1c.1685C>G (p.Thr562Arg)
n.2471C>G
c.1712C>G (p.Thr571Arg)
c.1304C>G (p.Thr435Arg)
c.788C>G (p.Thr263Arg)
n.2498C>G
n.2501C>G
n.2445C>G
9g.14842369G>TCA372960091FREM1c.1685C>A (p.Thr562Lys)
n.2471C>A
c.1712C>A (p.Thr571Lys)
c.1304C>A (p.Thr435Lys)
c.788C>A (p.Thr263Lys)
n.2498C>A
n.2501C>A
n.2445C>A
9g.14842370T>ACA372960092FREM1c.1684A>T (p.Thr562Ser)
n.2470A>T
c.1711A>T (p.Thr571Ser)
c.1303A>T (p.Thr435Ser)
c.787A>T (p.Thr263Ser)
n.2497A>T
n.2500A>T
n.2444A>T
9g.14842370T>CCA372960093FREM1c.1684A>G (p.Thr562Ala)
n.2470A>G
c.1711A>G (p.Thr571Ala)
c.1303A>G (p.Thr435Ala)
c.787A>G (p.Thr263Ala)
n.2497A>G
n.2500A>G
n.2444A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842370T>GCA372960094FREM1c.1684A>C (p.Thr562Pro)
n.2470A>C
c.1711A>C (p.Thr571Pro)
c.1303A>C (p.Thr435Pro)
c.787A>C (p.Thr263Pro)
n.2497A>C
n.2500A>C
n.2444A>C
9g.14842370T=CA1835222325FREM1c.1684A= (p.Thr562=)
n.2470A=
c.1711A= (p.Thr571=)
c.1303A= (p.Thr435=)
c.787A= (p.Thr263=)
n.2497A=
n.2500A=
n.2444A=
9g.14842371G>ACA464024366FREM1c.1683C>T (p.Ile561=)
n.2469C>T
c.1710C>T (p.Ile570=)
c.1302C>T (p.Ile434=)
c.786C>T (p.Ile262=)
n.2496C>T
n.2499C>T
n.2443C>T
 COSMIC
9g.14842371G>CCA372960095FREM1c.1683C>G (p.Ile561Met)
n.2469C>G
c.1710C>G (p.Ile570Met)
c.1302C>G (p.Ile434Met)
c.786C>G (p.Ile262Met)
n.2496C>G
n.2499C>G
n.2443C>G
9g.14842371G>TCA464024369FREM1c.1683C>A (p.Ile561=)
n.2469C>A
c.1710C>A (p.Ile570=)
c.1302C>A (p.Ile434=)
c.786C>A (p.Ile262=)
n.2496C>A
n.2499C>A
n.2443C>A
9g.14842372A>CCA372960097FREM1c.1682T>G (p.Ile561Ser)
n.2468T>G
c.1709T>G (p.Ile570Ser)
c.1301T>G (p.Ile434Ser)
c.785T>G (p.Ile262Ser)
n.2495T>G
n.2498T>G
n.2442T>G
9g.14842372A>GCA372960098FREM1c.1682T>C (p.Ile561Thr)
n.2468T>C
c.1709T>C (p.Ile570Thr)
c.1301T>C (p.Ile434Thr)
c.785T>C (p.Ile262Thr)
n.2495T>C
n.2498T>C
n.2442T>C
9g.14842372A>TCA372960096FREM1c.1682T>A (p.Ile561Asn)
n.2468T>A
c.1709T>A (p.Ile570Asn)
c.1301T>A (p.Ile434Asn)
c.785T>A (p.Ile262Asn)
n.2495T>A
n.2498T>A
n.2442T>A
9g.14842373T>ACA372960099FREM1c.1681A>T (p.Ile561Phe)
n.2467A>T
c.1708A>T (p.Ile570Phe)
c.1300A>T (p.Ile434Phe)
c.784A>T (p.Ile262Phe)
n.2494A>T
n.2497A>T
n.2441A>T
9g.14842373T>CCA372960100FREM1c.1681A>G (p.Ile561Val)
n.2467A>G
c.1708A>G (p.Ile570Val)
c.1300A>G (p.Ile434Val)
c.784A>G (p.Ile262Val)
n.2494A>G
n.2497A>G
n.2441A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842373T>GCA372960101FREM1c.1681A>C (p.Ile561Leu)
n.2467A>C
c.1708A>C (p.Ile570Leu)
c.1300A>C (p.Ile434Leu)
c.784A>C (p.Ile262Leu)
n.2494A>C
n.2497A>C
n.2441A>C
9g.14842373T=CA1835222326FREM1c.1681A= (p.Ile561=)
n.2467A=
c.1708A= (p.Ile570=)
c.1300A= (p.Ile434=)
c.784A= (p.Ile262=)
n.2494A=
n.2497A=
n.2441A=
9g.14842374A=CA1835222327FREM1c.1680T= (p.Asn560=)
n.2466T=
c.1707T= (p.Asn569=)
c.1299T= (p.Asn433=)
c.783T= (p.Asn261=)
n.2493T=
n.2496T=
n.2440T=
9g.14842374A>CCA372960102FREM1c.1680T>G (p.Asn560Lys)
n.2466T>G
c.1707T>G (p.Asn569Lys)
c.1299T>G (p.Asn433Lys)
c.783T>G (p.Asn261Lys)
n.2493T>G
n.2496T>G
n.2440T>G
9g.14842374A>GCA464024370FREM1c.1680T>C (p.Asn560=)
n.2466T>C
c.1707T>C (p.Asn569=)
c.1299T>C (p.Asn433=)
c.783T>C (p.Asn261=)
n.2493T>C
n.2496T>C
n.2440T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842374A>TCA372960103FREM1c.1680T>A (p.Asn560Lys)
n.2466T>A
c.1707T>A (p.Asn569Lys)
c.1299T>A (p.Asn433Lys)
c.783T>A (p.Asn261Lys)
n.2493T>A
n.2496T>A
n.2440T>A
9g.14842375T>ACA372960104FREM1c.1679A>T (p.Asn560Ile)
n.2465A>T
c.1706A>T (p.Asn569Ile)
c.1298A>T (p.Asn433Ile)
c.782A>T (p.Asn261Ile)
n.2492A>T
n.2495A>T
n.2439A>T
9g.14842375T>CCA372960105FREM1c.1679A>G (p.Asn560Ser)
n.2465A>G
c.1706A>G (p.Asn569Ser)
c.1298A>G (p.Asn433Ser)
c.782A>G (p.Asn261Ser)
n.2492A>G
n.2495A>G
n.2439A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842375T>GCA372960106FREM1c.1679A>C (p.Asn560Thr)
n.2465A>C
c.1706A>C (p.Asn569Thr)
c.1298A>C (p.Asn433Thr)
c.782A>C (p.Asn261Thr)
n.2492A>C
n.2495A>C
n.2439A>C
9g.14842375T=CA1835222328FREM1c.1679A= (p.Asn560=)
n.2465A=
c.1706A= (p.Asn569=)
c.1298A= (p.Asn433=)
c.782A= (p.Asn261=)
n.2492A=
n.2495A=
n.2439A=
9g.14842376T>ACA372960107FREM1c.1678A>T (p.Asn560Tyr)
n.2464A>T
c.1705A>T (p.Asn569Tyr)
c.1297A>T (p.Asn433Tyr)
c.781A>T (p.Asn261Tyr)
n.2491A>T
n.2494A>T
n.2438A>T
9g.14842376T>CCA372960108FREM1c.1678A>G (p.Asn560Asp)
n.2464A>G
c.1705A>G (p.Asn569Asp)
c.1297A>G (p.Asn433Asp)
c.781A>G (p.Asn261Asp)
n.2491A>G
n.2494A>G
n.2438A>G
9g.14842376T>GCA372960109FREM1c.1678A>C (p.Asn560His)
n.2464A>C
c.1705A>C (p.Asn569His)
c.1297A>C (p.Asn433His)
c.781A>C (p.Asn261His)
n.2491A>C
n.2494A>C
n.2438A>C
 dbSNP
9g.14842376T=CA1835222329FREM1c.1678A= (p.Asn560=)
n.2464A=
c.1705A= (p.Asn569=)
c.1297A= (p.Asn433=)
c.781A= (p.Asn261=)
n.2491A=
n.2494A=
n.2438A=
9g.14842377G>ACA464024378FREM1c.1677C>T (p.Phe559=)
n.2463C>T
c.1704C>T (p.Phe568=)
c.1296C>T (p.Phe432=)
c.780C>T (p.Phe260=)
n.2490C>T
n.2493C>T
n.2437C>T
9g.14842377G>CCA372960110FREM1c.1677C>G (p.Phe559Leu)
n.2463C>G
c.1704C>G (p.Phe568Leu)
c.1296C>G (p.Phe432Leu)
c.780C>G (p.Phe260Leu)
n.2490C>G
n.2493C>G
n.2437C>G
9g.14842377G>TCA372960111FREM1c.1677C>A (p.Phe559Leu)
n.2463C>A
c.1704C>A (p.Phe568Leu)
c.1296C>A (p.Phe432Leu)
c.780C>A (p.Phe260Leu)
n.2490C>A
n.2493C>A
n.2437C>A
9g.14842382_14842384delCA645564367FREM1c.1675_1677del (p.Phe559del)
n.2461_2463del
c.1702_1704del (p.Phe568del)
c.1294_1296del (p.Phe432del)
c.778_780del (p.Phe260del)
n.2488_2490del
n.2491_2493del
n.2435_2437del
 gnomAD v4 COSMIC
9g.14842378A>CCA372960114FREM1c.1676T>G (p.Phe559Cys)
n.2462T>G
c.1703T>G (p.Phe568Cys)
c.1295T>G (p.Phe432Cys)
c.779T>G (p.Phe260Cys)
n.2489T>G
n.2492T>G
n.2436T>G
9g.14842378A>GCA372960113FREM1c.1676T>C (p.Phe559Ser)
n.2462T>C
c.1703T>C (p.Phe568Ser)
c.1295T>C (p.Phe432Ser)
c.779T>C (p.Phe260Ser)
n.2489T>C
n.2492T>C
n.2436T>C
9g.14842378A>TCA372960112FREM1c.1676T>A (p.Phe559Tyr)
n.2462T>A
c.1703T>A (p.Phe568Tyr)
c.1295T>A (p.Phe432Tyr)
c.779T>A (p.Phe260Tyr)
n.2489T>A
n.2492T>A
n.2436T>A
9g.14842379A>CCA372960115FREM1c.1675T>G (p.Phe559Val)
n.2461T>G
c.1702T>G (p.Phe568Val)
c.1294T>G (p.Phe432Val)
c.778T>G (p.Phe260Val)
n.2488T>G
n.2491T>G
n.2435T>G
9g.14842379A>GCA372960116FREM1c.1675T>C (p.Phe559Leu)
n.2461T>C
c.1702T>C (p.Phe568Leu)
c.1294T>C (p.Phe432Leu)
c.778T>C (p.Phe260Leu)
n.2488T>C
n.2491T>C
n.2435T>C
 gnomAD v4
9g.14842379A>TCA372960117FREM1c.1675T>A (p.Phe559Ile)
n.2461T>A
c.1702T>A (p.Phe568Ile)
c.1294T>A (p.Phe432Ile)
c.778T>A (p.Phe260Ile)
n.2488T>A
n.2491T>A
n.2435T>A
9g.14842380G>ACA464024382FREM1c.1674C>T (p.Phe558=)
n.2460C>T
c.1701C>T (p.Phe567=)
c.1293C>T (p.Phe431=)
c.777C>T (p.Phe259=)
n.2487C>T
n.2490C>T
n.2434C>T
 gnomAD v4
9g.14842380G>CCA372960118FREM1c.1674C>G (p.Phe558Leu)
n.2460C>G
c.1701C>G (p.Phe567Leu)
c.1293C>G (p.Phe431Leu)
c.777C>G (p.Phe259Leu)
n.2487C>G
n.2490C>G
n.2434C>G
9g.14842380G>TCA372960119FREM1c.1674C>A (p.Phe558Leu)
n.2460C>A
c.1701C>A (p.Phe567Leu)
c.1293C>A (p.Phe431Leu)
c.777C>A (p.Phe259Leu)
n.2487C>A
n.2490C>A
n.2434C>A
9g.14842381A>CCA372960120FREM1c.1673T>G (p.Phe558Cys)
n.2459T>G
c.1700T>G (p.Phe567Cys)
c.1292T>G (p.Phe431Cys)
c.776T>G (p.Phe259Cys)
n.2486T>G
n.2489T>G
n.2433T>G
9g.14842381A>GCA372960121FREM1c.1673T>C (p.Phe558Ser)
n.2459T>C
c.1700T>C (p.Phe567Ser)
c.1292T>C (p.Phe431Ser)
c.776T>C (p.Phe259Ser)
n.2486T>C
n.2489T>C
n.2433T>C
9g.14842381A>TCA372960122FREM1c.1673T>A (p.Phe558Tyr)
n.2459T>A
c.1700T>A (p.Phe567Tyr)
c.1292T>A (p.Phe431Tyr)
c.776T>A (p.Phe259Tyr)
n.2486T>A
n.2489T>A
n.2433T>A
9g.14842382A=CA1835222330FREM1c.1672T= (p.Phe558=)
n.2458T=
c.1699T= (p.Phe567=)
c.1291T= (p.Phe431=)
c.775T= (p.Phe259=)
n.2485T=
n.2488T=
n.2432T=
9g.14842382A>CCA372960123FREM1c.1672T>G (p.Phe558Val)
n.2458T>G
c.1699T>G (p.Phe567Val)
c.1291T>G (p.Phe431Val)
c.775T>G (p.Phe259Val)
n.2485T>G
n.2488T>G
n.2432T>G
 dbSNP gnomAD v4
9g.14842382A>GCA372960124FREM1c.1672T>C (p.Phe558Leu)
n.2458T>C
c.1699T>C (p.Phe567Leu)
c.1291T>C (p.Phe431Leu)
c.775T>C (p.Phe259Leu)
n.2485T>C
n.2488T>C
n.2432T>C
9g.14842382A>TCA372960125FREM1c.1672T>A (p.Phe558Ile)
n.2458T>A
c.1699T>A (p.Phe567Ile)
c.1291T>A (p.Phe431Ile)
c.775T>A (p.Phe259Ile)
n.2485T>A
n.2488T>A
n.2432T>A
9g.14842383G>ACA464024392FREM1c.1671C>T (p.Ile557=)
n.2457C>T
c.1698C>T (p.Ile566=)
c.1290C>T (p.Ile430=)
c.774C>T (p.Ile258=)
n.2484C>T
n.2487C>T
n.2431C>T
9g.14842383G>CCA189364163FREM1c.1671C>G (p.Ile557Met)
n.2457C>G
c.1698C>G (p.Ile566Met)
c.1290C>G (p.Ile430Met)
c.774C>G (p.Ile258Met)
n.2484C>G
n.2487C>G
n.2431C>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842383G=CA1835222331FREM1c.1671C= (p.Ile557=)
n.2457C=
c.1698C= (p.Ile566=)
c.1290C= (p.Ile430=)
c.774C= (p.Ile258=)
n.2484C=
n.2487C=
n.2431C=
9g.14842383G>TCA464024394FREM1c.1671C>A (p.Ile557=)
n.2457C>A
c.1698C>A (p.Ile566=)
c.1290C>A (p.Ile430=)
c.774C>A (p.Ile258=)
n.2484C>A
n.2487C>A
n.2431C>A
 dbSNP
9g.14842384A=CA1835222332FREM1c.1670T= (p.Ile557=)
n.2456T=
c.1697T= (p.Ile566=)
c.1289T= (p.Ile430=)
c.773T= (p.Ile258=)
n.2483T=
n.2486T=
n.2430T=
9g.14842384A>CCA372960128FREM1c.1670T>G (p.Ile557Ser)
n.2456T>G
c.1697T>G (p.Ile566Ser)
c.1289T>G (p.Ile430Ser)
c.773T>G (p.Ile258Ser)
n.2483T>G
n.2486T>G
n.2430T>G
9g.14842384A>GCA372960127FREM1c.1670T>C (p.Ile557Thr)
n.2456T>C
c.1697T>C (p.Ile566Thr)
c.1289T>C (p.Ile430Thr)
c.773T>C (p.Ile258Thr)
n.2483T>C
n.2486T>C
n.2430T>C
9g.14842384A>TCA372960126FREM1c.1670T>A (p.Ile557Asn)
n.2456T>A
c.1697T>A (p.Ile566Asn)
c.1289T>A (p.Ile430Asn)
c.773T>A (p.Ile258Asn)
n.2483T>A
n.2486T>A
n.2430T>A
 dbSNP
9g.14842385T>ACA372960129FREM1c.1669A>T (p.Ile557Phe)
n.2455A>T
c.1696A>T (p.Ile566Phe)
c.1288A>T (p.Ile430Phe)
c.772A>T (p.Ile258Phe)
n.2482A>T
n.2485A>T
n.2429A>T
9g.14842385T>CCA372960131FREM1c.1669A>G (p.Ile557Val)
n.2455A>G
c.1696A>G (p.Ile566Val)
c.1288A>G (p.Ile430Val)
c.772A>G (p.Ile258Val)
n.2482A>G
n.2485A>G
n.2429A>G
 gnomAD v4
9g.14842385T>GCA372960130FREM1c.1669A>C (p.Ile557Leu)
n.2455A>C
c.1696A>C (p.Ile566Leu)
c.1288A>C (p.Ile430Leu)
c.772A>C (p.Ile258Leu)
n.2482A>C
n.2485A>C
n.2429A>C
9g.14842386G>ACA464024403FREM1c.1668C>T (p.Tyr556=)
n.2454C>T
c.1695C>T (p.Tyr565=)
c.1287C>T (p.Tyr429=)
c.771C>T (p.Tyr257=)
n.2481C>T
n.2484C>T
n.2428C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.14842386G>CCA372960132FREM1c.1668C>G (p.Tyr556Ter)
n.2454C>G
c.1695C>G (p.Tyr565Ter)
c.1287C>G (p.Tyr429Ter)
c.771C>G (p.Tyr257Ter)
n.2481C>G
n.2484C>G
n.2428C>G
9g.14842386G=CA1835222333FREM1c.1668C= (p.Tyr556=)
n.2454C=
c.1695C= (p.Tyr565=)
c.1287C= (p.Tyr429=)
c.771C= (p.Tyr257=)
n.2481C=
n.2484C=
n.2428C=
9g.14842386G>TCA372960133FREM1c.1668C>A (p.Tyr556Ter)
n.2454C>A
c.1695C>A (p.Tyr565Ter)
c.1287C>A (p.Tyr429Ter)
c.771C>A (p.Tyr257Ter)
n.2481C>A
n.2484C>A
n.2428C>A
9g.14842387T>ACA372960134FREM1c.1667A>T (p.Tyr556Phe)
n.2453A>T
c.1694A>T (p.Tyr565Phe)
c.1286A>T (p.Tyr429Phe)
c.770A>T (p.Tyr257Phe)
n.2480A>T
n.2483A>T
n.2427A>T
9g.14842387T>CCA372960135FREM1c.1667A>G (p.Tyr556Cys)
n.2453A>G
c.1694A>G (p.Tyr565Cys)
c.1286A>G (p.Tyr429Cys)
c.770A>G (p.Tyr257Cys)
n.2480A>G
n.2483A>G
n.2427A>G
9g.14842387T>GCA372960136FREM1c.1667A>C (p.Tyr556Ser)
n.2453A>C
c.1694A>C (p.Tyr565Ser)
c.1286A>C (p.Tyr429Ser)
c.770A>C (p.Tyr257Ser)
n.2480A>C
n.2483A>C
n.2427A>C
9g.14842388A=CA1835222334FREM1c.1666T= (p.Tyr556=)
n.2452T=
c.1693T= (p.Tyr565=)
c.1285T= (p.Tyr429=)
c.769T= (p.Tyr257=)
n.2479T=
n.2482T=
n.2426T=
9g.14842388A>CCA372960137FREM1c.1666T>G (p.Tyr556Asp)
n.2452T>G
c.1693T>G (p.Tyr565Asp)
c.1285T>G (p.Tyr429Asp)
c.769T>G (p.Tyr257Asp)
n.2479T>G
n.2482T>G
n.2426T>G
 gnomAD v4
9g.14842388A>GCA4991172FREM1c.1666T>C (p.Tyr556His)
n.2452T>C
c.1693T>C (p.Tyr565His)
c.1285T>C (p.Tyr429His)
c.769T>C (p.Tyr257His)
n.2479T>C
n.2482T>C
n.2426T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842388A>TCA372960138FREM1c.1666T>A (p.Tyr556Asn)
n.2452T>A
c.1693T>A (p.Tyr565Asn)
c.1285T>A (p.Tyr429Asn)
c.769T>A (p.Tyr257Asn)
n.2479T>A
n.2482T>A
n.2426T>A
9g.14842389G>ACA4991173FREM1c.1665C>T (p.Asp555=)
n.2451C>T
c.1692C>T (p.Asp564=)
c.1284C>T (p.Asp428=)
c.768C>T (p.Asp256=)
n.2478C>T
n.2481C>T
n.2425C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842389G>CCA372960139FREM1c.1665C>G (p.Asp555Glu)
n.2451C>G
c.1692C>G (p.Asp564Glu)
c.1284C>G (p.Asp428Glu)
c.768C>G (p.Asp256Glu)
n.2478C>G
n.2481C>G
n.2425C>G
9g.14842389G=CA1835222335FREM1c.1665C= (p.Asp555=)
n.2451C=
c.1692C= (p.Asp564=)
c.1284C= (p.Asp428=)
c.768C= (p.Asp256=)
n.2478C=
n.2481C=
n.2425C=
9g.14842389G>TCA372960140FREM1c.1665C>A (p.Asp555Glu)
n.2451C>A
c.1692C>A (p.Asp564Glu)
c.1284C>A (p.Asp428Glu)
c.768C>A (p.Asp256Glu)
n.2478C>A
n.2481C>A
n.2425C>A
9g.14842390T>ACA372960143FREM1c.1664A>T (p.Asp555Val)
n.2450A>T
c.1691A>T (p.Asp564Val)
c.1283A>T (p.Asp428Val)
c.767A>T (p.Asp256Val)
n.2477A>T
n.2480A>T
n.2424A>T
9g.14842390T>CCA372960142FREM1c.1664A>G (p.Asp555Gly)
n.2450A>G
c.1691A>G (p.Asp564Gly)
c.1283A>G (p.Asp428Gly)
c.767A>G (p.Asp256Gly)
n.2477A>G
n.2480A>G
n.2424A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842390T>GCA372960141FREM1c.1664A>C (p.Asp555Ala)
n.2450A>C
c.1691A>C (p.Asp564Ala)
c.1283A>C (p.Asp428Ala)
c.767A>C (p.Asp256Ala)
n.2477A>C
n.2480A>C
n.2424A>C
9g.14842390T=CA1835222336FREM1c.1664A= (p.Asp555=)
n.2450A=
c.1691A= (p.Asp564=)
c.1283A= (p.Asp428=)
c.767A= (p.Asp256=)
n.2477A=
n.2480A=
n.2424A=
9g.14842391C>ACA372960144FREM1c.1663G>T (p.Asp555Tyr)
n.2449G>T
c.1690G>T (p.Asp564Tyr)
c.1282G>T (p.Asp428Tyr)
c.766G>T (p.Asp256Tyr)
n.2476G>T
n.2479G>T
n.2423G>T
9g.14842391C=CA1835222337FREM1c.1663G= (p.Asp555=)
n.2449G=
c.1690G= (p.Asp564=)
c.1282G= (p.Asp428=)
c.766G= (p.Asp256=)
n.2476G=
n.2479G=
n.2423G=
9g.14842391C>GCA372960145FREM1c.1663G>C (p.Asp555His)
n.2449G>C
c.1690G>C (p.Asp564His)
c.1282G>C (p.Asp428His)
c.766G>C (p.Asp256His)
n.2476G>C
n.2479G>C
n.2423G>C
9g.14842391C>TCA4991174FREM1c.1663G>A (p.Asp555Asn)
n.2449G>A
c.1690G>A (p.Asp564Asn)
c.1282G>A (p.Asp428Asn)
c.766G>A (p.Asp256Asn)
n.2476G>A
n.2479G>A
n.2423G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842392A=CA1835222338FREM1c.1662T= (p.Asp554=)
n.2448T=
c.1689T= (p.Asp563=)
c.1281T= (p.Asp427=)
c.765T= (p.Asp255=)
n.2475T=
n.2478T=
n.2422T=
9g.14842392A>CCA372960146FREM1c.1662T>G (p.Asp554Glu)
n.2448T>G
c.1689T>G (p.Asp563Glu)
c.1281T>G (p.Asp427Glu)
c.765T>G (p.Asp255Glu)
n.2475T>G
n.2478T>G
n.2422T>G
9g.14842392A>GCA4991175FREM1c.1662T>C (p.Asp554=)
n.2448T>C
c.1689T>C (p.Asp563=)
c.1281T>C (p.Asp427=)
c.765T>C (p.Asp255=)
n.2475T>C
n.2478T>C
n.2422T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842392A>TCA372960147FREM1c.1662T>A (p.Asp554Glu)
n.2448T>A
c.1689T>A (p.Asp563Glu)
c.1281T>A (p.Asp427Glu)
c.765T>A (p.Asp255Glu)
n.2475T>A
n.2478T>A
n.2422T>A
9g.14842393T>ACA372960148FREM1c.1661A>T (p.Asp554Val)
n.2447A>T
c.1688A>T (p.Asp563Val)
c.1280A>T (p.Asp427Val)
c.764A>T (p.Asp255Val)
n.2474A>T
n.2477A>T
n.2421A>T
 ClinVar
9g.14842393T>CCA372960149FREM1c.1661A>G (p.Asp554Gly)
n.2447A>G
c.1688A>G (p.Asp563Gly)
c.1280A>G (p.Asp427Gly)
c.764A>G (p.Asp255Gly)
n.2474A>G
n.2477A>G
n.2421A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842393T>GCA372960150FREM1c.1661A>C (p.Asp554Ala)
n.2447A>C
c.1688A>C (p.Asp563Ala)
c.1280A>C (p.Asp427Ala)
c.764A>C (p.Asp255Ala)
n.2474A>C
n.2477A>C
n.2421A>C
 dbSNP gnomAD v2 gnomAD v4
9g.14842393T=CA1835222339FREM1c.1661A= (p.Asp554=)
n.2447A=
c.1688A= (p.Asp563=)
c.1280A= (p.Asp427=)
c.764A= (p.Asp255=)
n.2474A=
n.2477A=
n.2421A=
9g.14842394C>ACA372960151FREM1c.1660G>T (p.Asp554Tyr)
n.2446G>T
c.1687G>T (p.Asp563Tyr)
c.1279G>T (p.Asp427Tyr)
c.763G>T (p.Asp255Tyr)
n.2473G>T
n.2476G>T
n.2420G>T
9g.14842394C>GCA372960152FREM1c.1660G>C (p.Asp554His)
n.2446G>C
c.1687G>C (p.Asp563His)
c.1279G>C (p.Asp427His)
c.763G>C (p.Asp255His)
n.2473G>C
n.2476G>C
n.2420G>C
9g.14842394C>TCA372960153FREM1c.1660G>A (p.Asp554Asn)
n.2446G>A
c.1687G>A (p.Asp563Asn)
c.1279G>A (p.Asp427Asn)
c.763G>A (p.Asp255Asn)
n.2473G>A
n.2476G>A
n.2420G>A
 gnomAD v4 COSMIC
9g.14842395A>CCA372960155FREM1c.1659T>G (p.Ser553Arg)
n.2445T>G
c.1686T>G (p.Ser562Arg)
c.1278T>G (p.Ser426Arg)
c.762T>G (p.Ser254Arg)
n.2472T>G
n.2475T>G
n.2419T>G
9g.14842395A>GCA464024412FREM1c.1659T>C (p.Ser553=)
n.2445T>C
c.1686T>C (p.Ser562=)
c.1278T>C (p.Ser426=)
c.762T>C (p.Ser254=)
n.2472T>C
n.2475T>C
n.2419T>C
9g.14842395A>TCA372960154FREM1c.1659T>A (p.Ser553Arg)
n.2445T>A
c.1686T>A (p.Ser562Arg)
c.1278T>A (p.Ser426Arg)
c.762T>A (p.Ser254Arg)
n.2472T>A
n.2475T>A
n.2419T>A
9g.14842396C>ACA372960156FREM1c.1658G>T (p.Ser553Ile)
n.2444G>T
c.1685G>T (p.Ser562Ile)
c.1277G>T (p.Ser426Ile)
c.761G>T (p.Ser254Ile)
n.2471G>T
n.2474G>T
n.2418G>T
9g.14842396C>GCA372960157FREM1c.1658G>C (p.Ser553Thr)
n.2444G>C
c.1685G>C (p.Ser562Thr)
c.1277G>C (p.Ser426Thr)
c.761G>C (p.Ser254Thr)
n.2471G>C
n.2474G>C
n.2418G>C
9g.14842396C>TCA372960158FREM1c.1658G>A (p.Ser553Asn)
n.2444G>A
c.1685G>A (p.Ser562Asn)
c.1277G>A (p.Ser426Asn)
c.761G>A (p.Ser254Asn)
n.2471G>A
n.2474G>A
n.2418G>A
9g.14842397T>ACA372960159FREM1c.1657A>T (p.Ser553Cys)
n.2443A>T
c.1684A>T (p.Ser562Cys)
c.1276A>T (p.Ser426Cys)
c.760A>T (p.Ser254Cys)
n.2470A>T
n.2473A>T
n.2417A>T
9g.14842397T>CCA372960160FREM1c.1657A>G (p.Ser553Gly)
n.2443A>G
c.1684A>G (p.Ser562Gly)
c.1276A>G (p.Ser426Gly)
c.760A>G (p.Ser254Gly)
n.2470A>G
n.2473A>G
n.2417A>G
9g.14842397T>GCA372960161FREM1c.1657A>C (p.Ser553Arg)
n.2443A>C
c.1684A>C (p.Ser562Arg)
c.1276A>C (p.Ser426Arg)
c.760A>C (p.Ser254Arg)
n.2470A>C
n.2473A>C
n.2417A>C
9g.14842398G>ACA464024415FREM1c.1656C>T (p.Ala552=)
n.2442C>T
c.1683C>T (p.Ala561=)
c.1275C>T (p.Ala425=)
c.759C>T (p.Ala253=)
n.2469C>T
n.2472C>T
n.2416C>T
9g.14842398G>CCA464024418FREM1c.1656C>G (p.Ala552=)
n.2442C>G
c.1683C>G (p.Ala561=)
c.1275C>G (p.Ala425=)
c.759C>G (p.Ala253=)
n.2469C>G
n.2472C>G
n.2416C>G
9g.14842398G>TCA464024422FREM1c.1656C>A (p.Ala552=)
n.2442C>A
c.1683C>A (p.Ala561=)
c.1275C>A (p.Ala425=)
c.759C>A (p.Ala253=)
n.2469C>A
n.2472C>A
n.2416C>A
9g.14842399G>ACA372960164FREM1c.1655C>T (p.Ala552Val)
n.2441C>T
c.1682C>T (p.Ala561Val)
c.1274C>T (p.Ala425Val)
c.758C>T (p.Ala253Val)
n.2468C>T
n.2471C>T
n.2415C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842399G>CCA372960163FREM1c.1655C>G (p.Ala552Gly)
n.2441C>G
c.1682C>G (p.Ala561Gly)
c.1274C>G (p.Ala425Gly)
c.758C>G (p.Ala253Gly)
n.2468C>G
n.2471C>G
n.2415C>G
9g.14842399G=CA1835222340FREM1c.1655C= (p.Ala552=)
n.2441C=
c.1682C= (p.Ala561=)
c.1274C= (p.Ala425=)
c.758C= (p.Ala253=)
n.2468C=
n.2471C=
n.2415C=
9g.14842399G>TCA372960162FREM1c.1655C>A (p.Ala552Asp)
n.2441C>A
c.1682C>A (p.Ala561Asp)
c.1274C>A (p.Ala425Asp)
c.758C>A (p.Ala253Asp)
n.2468C>A
n.2471C>A
n.2415C>A
9g.14842400C>ACA372960165FREM1c.1654G>T (p.Ala552Ser)
n.2440G>T
c.1681G>T (p.Ala561Ser)
c.1273G>T (p.Ala425Ser)
c.757G>T (p.Ala253Ser)
n.2467G>T
n.2470G>T
n.2414G>T
 dbSNP
9g.14842400C=CA1835222341FREM1c.1654G= (p.Ala552=)
n.2440G=
c.1681G= (p.Ala561=)
c.1273G= (p.Ala425=)
c.757G= (p.Ala253=)
n.2467G=
n.2470G=
n.2414G=
9g.14842400C>GCA372960166FREM1c.1654G>C (p.Ala552Pro)
n.2440G>C
c.1681G>C (p.Ala561Pro)
c.1273G>C (p.Ala425Pro)
c.757G>C (p.Ala253Pro)
n.2467G>C
n.2470G>C
n.2414G>C
9g.14842400C>TCA4991176FREM1c.1654G>A (p.Ala552Thr)
n.2440G>A
c.1681G>A (p.Ala561Thr)
c.1273G>A (p.Ala425Thr)
c.757G>A (p.Ala253Thr)
n.2467G>A
n.2470G>A
n.2414G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842401G>ACA4991177FREM1c.1653C>T (p.Asp551=)
n.2439C>T
c.1680C>T (p.Asp560=)
c.1272C>T (p.Asp424=)
c.756C>T (p.Asp252=)
n.2466C>T
n.2469C>T
n.2413C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842401G>CCA372960167FREM1c.1653C>G (p.Asp551Glu)
n.2439C>G
c.1680C>G (p.Asp560Glu)
c.1272C>G (p.Asp424Glu)
c.756C>G (p.Asp252Glu)
n.2466C>G
n.2469C>G
n.2413C>G
9g.14842401G=CA1835222342FREM1c.1653C= (p.Asp551=)
n.2439C=
c.1680C= (p.Asp560=)
c.1272C= (p.Asp424=)
c.756C= (p.Asp252=)
n.2466C=
n.2469C=
n.2413C=
9g.14842401G>TCA372960168FREM1c.1653C>A (p.Asp551Glu)
n.2439C>A
c.1680C>A (p.Asp560Glu)
c.1272C>A (p.Asp424Glu)
c.756C>A (p.Asp252Glu)
n.2466C>A
n.2469C>A
n.2413C>A
9g.14842402T>ACA372960169FREM1c.1652A>T (p.Asp551Val)
n.2438A>T
c.1679A>T (p.Asp560Val)
c.1271A>T (p.Asp424Val)
c.755A>T (p.Asp252Val)
n.2465A>T
n.2468A>T
n.2412A>T
 gnomAD v4
9g.14842402T>CCA372960171FREM1c.1652A>G (p.Asp551Gly)
n.2438A>G
c.1679A>G (p.Asp560Gly)
c.1271A>G (p.Asp424Gly)
c.755A>G (p.Asp252Gly)
n.2465A>G
n.2468A>G
n.2412A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842402T>GCA372960170FREM1c.1652A>C (p.Asp551Ala)
n.2438A>C
c.1679A>C (p.Asp560Ala)
c.1271A>C (p.Asp424Ala)
c.755A>C (p.Asp252Ala)
n.2465A>C
n.2468A>C
n.2412A>C
9g.14842402T=CA1835222343FREM1c.1652A= (p.Asp551=)
n.2438A=
c.1679A= (p.Asp560=)
c.1271A= (p.Asp424=)
c.755A= (p.Asp252=)
n.2465A=
n.2468A=
n.2412A=
9g.14842403C>ACA372960172FREM1c.1651G>T (p.Asp551Tyr)
n.2437G>T
c.1678G>T (p.Asp560Tyr)
c.1270G>T (p.Asp424Tyr)
c.754G>T (p.Asp252Tyr)
n.2464G>T
n.2467G>T
n.2411G>T
9g.14842403C=CA1835222344FREM1c.1651G= (p.Asp551=)
n.2437G=
c.1678G= (p.Asp560=)
c.1270G= (p.Asp424=)
c.754G= (p.Asp252=)
n.2464G=
n.2467G=
n.2411G=
9g.14842403C>GCA372960173FREM1c.1651G>C (p.Asp551His)
n.2437G>C
c.1678G>C (p.Asp560His)
c.1270G>C (p.Asp424His)
c.754G>C (p.Asp252His)
n.2464G>C
n.2467G>C
n.2411G>C
9g.14842403C>TCA372960174FREM1c.1651G>A (p.Asp551Asn)
n.2437G>A
c.1678G>A (p.Asp560Asn)
c.1270G>A (p.Asp424Asn)
c.754G>A (p.Asp252Asn)
n.2464G>A
n.2467G>A
n.2411G>A
9g.14842404C>ACA464024426FREM1c.1650G>T (p.Val550=)
n.2436G>T
c.1677G>T (p.Val559=)
c.1269G>T (p.Val423=)
c.753G>T (p.Val251=)
n.2463G>T
n.2466G>T
n.2410G>T
9g.14842404C>GCA464024427FREM1c.1650G>C (p.Val550=)
n.2436G>C
c.1677G>C (p.Val559=)
c.1269G>C (p.Val423=)
c.753G>C (p.Val251=)
n.2463G>C
n.2466G>C
n.2410G>C
9g.14842404C>TCA464024429FREM1c.1650G>A (p.Val550=)
n.2436G>A
c.1677G>A (p.Val559=)
c.1269G>A (p.Val423=)
c.753G>A (p.Val251=)
n.2463G>A
n.2466G>A
n.2410G>A
 COSMIC
9g.14842406_14842407dupCA861370733FREM1c.1649_1650dup (p.Asp551TrpfsTer22)
n.2435_2436dup
c.1676_1677dup (p.Asp560TrpfsTer22)
c.1268_1269dup (p.Asp424TrpfsTer22)
c.752_753dup (p.Asp252TrpfsTer22)
n.2462_2463dup
n.2465_2466dup
n.2409_2410dup
 dbSNP gnomAD v3 gnomAD v4
9g.14842405A>CCA372960175FREM1c.1649T>G (p.Val550Gly)
n.2435T>G
c.1676T>G (p.Val559Gly)
c.1268T>G (p.Val423Gly)
c.752T>G (p.Val251Gly)
n.2462T>G
n.2465T>G
n.2409T>G
9g.14842405A>GCA372960176FREM1c.1649T>C (p.Val550Ala)
n.2435T>C
c.1676T>C (p.Val559Ala)
c.1268T>C (p.Val423Ala)
c.752T>C (p.Val251Ala)
n.2462T>C
n.2465T>C
n.2409T>C
9g.14842405A>TCA372960177FREM1c.1649T>A (p.Val550Glu)
n.2435T>A
c.1676T>A (p.Val559Glu)
c.1268T>A (p.Val423Glu)
c.752T>A (p.Val251Glu)
n.2462T>A
n.2465T>A
n.2409T>A
9g.14842406C>ACA372960178FREM1c.1648G>T (p.Val550Leu)
n.2434G>T
c.1675G>T (p.Val559Leu)
c.1267G>T (p.Val423Leu)
c.751G>T (p.Val251Leu)
n.2461G>T
n.2464G>T
n.2408G>T
 dbSNP
9g.14842406C=CA1835222345FREM1c.1648G= (p.Val550=)
n.2434G=
c.1675G= (p.Val559=)
c.1267G= (p.Val423=)
c.751G= (p.Val251=)
n.2461G=
n.2464G=
n.2408G=
9g.14842406C>GCA372960179FREM1c.1648G>C (p.Val550Leu)
n.2434G>C
c.1675G>C (p.Val559Leu)
c.1267G>C (p.Val423Leu)
c.751G>C (p.Val251Leu)
n.2461G>C
n.2464G>C
n.2408G>C
9g.14842406C>TCA4991178FREM1c.1648G>A (p.Val550Met)
n.2434G>A
c.1675G>A (p.Val559Met)
c.1267G>A (p.Val423Met)
c.751G>A (p.Val251Met)
n.2461G>A
n.2464G>A
n.2408G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842407A>CCA372960180FREM1c.1647T>G (p.Asp549Glu)
n.2433T>G
c.1674T>G (p.Asp558Glu)
c.1266T>G (p.Asp422Glu)
c.750T>G (p.Asp250Glu)
n.2460T>G
n.2463T>G
n.2407T>G
 gnomAD v4
9g.14842407A>GCA464024432FREM1c.1647T>C (p.Asp549=)
n.2433T>C
c.1674T>C (p.Asp558=)
c.1266T>C (p.Asp422=)
c.750T>C (p.Asp250=)
n.2460T>C
n.2463T>C
n.2407T>C
9g.14842407A>TCA372960181FREM1c.1647T>A (p.Asp549Glu)
n.2433T>A
c.1674T>A (p.Asp558Glu)
c.1266T>A (p.Asp422Glu)
c.750T>A (p.Asp250Glu)
n.2460T>A
n.2463T>A
n.2407T>A
9g.14842407_14842408delinsATCA1835222346FREM1c.1646_1647delinsAT (p.Asp549=)
n.2432_2433delinsAT
c.1673_1674delinsAT (p.Asp558=)
c.1265_1266delinsAT (p.Asp422=)
c.749_750delinsAT (p.Asp250=)
n.2459_2460delinsAT
n.2462_2463delinsAT
n.2406_2407delinsAT
9g.14842408delCA586637836FREM1c.1646del (p.Asp549ValfsTer23)
n.2432del
c.1673del (p.Asp558ValfsTer23)
c.1265del (p.Asp422ValfsTer23)
c.749del (p.Asp250ValfsTer23)
n.2459del
n.2462del
n.2406del
 dbSNP gnomAD v2 gnomAD v4
9g.14842408T>ACA372960184FREM1c.1646A>T (p.Asp549Val)
n.2432A>T
c.1673A>T (p.Asp558Val)
c.1265A>T (p.Asp422Val)
c.749A>T (p.Asp250Val)
n.2459A>T
n.2462A>T
n.2406A>T
9g.14842408T>CCA372960182FREM1c.1646A>G (p.Asp549Gly)
n.2432A>G
c.1673A>G (p.Asp558Gly)
c.1265A>G (p.Asp422Gly)
c.749A>G (p.Asp250Gly)
n.2459A>G
n.2462A>G
n.2406A>G
 ClinVar
9g.14842408T>GCA372960183FREM1c.1646A>C (p.Asp549Ala)
n.2432A>C
c.1673A>C (p.Asp558Ala)
c.1265A>C (p.Asp422Ala)
c.749A>C (p.Asp250Ala)
n.2459A>C
n.2462A>C
n.2406A>C
 gnomAD v4
9g.14842409C>ACA372960185FREM1c.1645G>T (p.Asp549Tyr)
n.2431G>T
c.1672G>T (p.Asp558Tyr)
c.1264G>T (p.Asp422Tyr)
c.748G>T (p.Asp250Tyr)
n.2458G>T
n.2461G>T
n.2405G>T
9g.14842409C>GCA372960187FREM1c.1645G>C (p.Asp549His)
n.2431G>C
c.1672G>C (p.Asp558His)
c.1264G>C (p.Asp422His)
c.748G>C (p.Asp250His)
n.2458G>C
n.2461G>C
n.2405G>C
 gnomAD v4
9g.14842409C>TCA372960186FREM1c.1645G>A (p.Asp549Asn)
n.2431G>A
c.1672G>A (p.Asp558Asn)
c.1264G>A (p.Asp422Asn)
c.748G>A (p.Asp250Asn)
n.2458G>A
n.2461G>A
n.2405G>A
9g.14842410T>ACA464024435FREM1c.1644A>T (p.Ser548=)
n.2430A>T
c.1671A>T (p.Ser557=)
c.1263A>T (p.Ser421=)
c.747A>T (p.Ser249=)
n.2457A>T
n.2460A>T
n.2404A>T
9g.14842410T>CCA4991179FREM1c.1644A>G (p.Ser548=)
n.2430A>G
c.1671A>G (p.Ser557=)
c.1263A>G (p.Ser421=)
c.747A>G (p.Ser249=)
n.2457A>G
n.2460A>G
n.2404A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842410T>GCA464024436FREM1c.1644A>C (p.Ser548=)
n.2430A>C
c.1671A>C (p.Ser557=)
c.1263A>C (p.Ser421=)
c.747A>C (p.Ser249=)
n.2457A>C
n.2460A>C
n.2404A>C
9g.14842410T=CA1835222347FREM1c.1644A= (p.Ser548=)
n.2430A=
c.1671A= (p.Ser557=)
c.1263A= (p.Ser421=)
c.747A= (p.Ser249=)
n.2457A=
n.2460A=
n.2404A=
9g.14842411G>ACA372960190FREM1c.1643C>T (p.Ser548Leu)
n.2429C>T
c.1670C>T (p.Ser557Leu)
c.1262C>T (p.Ser421Leu)
c.746C>T (p.Ser249Leu)
n.2456C>T
n.2459C>T
n.2403C>T
9g.14842411G>CCA372960188FREM1c.1643C>G (p.Ser548Ter)
n.2429C>G
c.1670C>G (p.Ser557Ter)
c.1262C>G (p.Ser421Ter)
c.746C>G (p.Ser249Ter)
n.2456C>G
n.2459C>G
n.2403C>G
9g.14842411G>TCA372960189FREM1c.1643C>A (p.Ser548Ter)
n.2429C>A
c.1670C>A (p.Ser557Ter)
c.1262C>A (p.Ser421Ter)
c.746C>A (p.Ser249Ter)
n.2456C>A
n.2459C>A
n.2403C>A
9g.14842412A>CCA372960191FREM1c.1642T>G (p.Ser548Ala)
n.2428T>G
c.1669T>G (p.Ser557Ala)
c.1261T>G (p.Ser421Ala)
c.745T>G (p.Ser249Ala)
n.2455T>G
n.2458T>G
n.2402T>G
9g.14842412A>GCA372960192FREM1c.1642T>C (p.Ser548Pro)
n.2428T>C
c.1669T>C (p.Ser557Pro)
c.1261T>C (p.Ser421Pro)
c.745T>C (p.Ser249Pro)
n.2455T>C
n.2458T>C
n.2402T>C
9g.14842412A>TCA372960193FREM1c.1642T>A (p.Ser548Thr)
n.2428T>A
c.1669T>A (p.Ser557Thr)
c.1261T>A (p.Ser421Thr)
c.745T>A (p.Ser249Thr)
n.2455T>A
n.2458T>A
n.2402T>A
9g.14842413A>CCA464024438FREM1c.1641T>G (p.Ala547=)
n.2427T>G
c.1668T>G (p.Ala556=)
c.1260T>G (p.Ala420=)
c.744T>G (p.Ala248=)
n.2454T>G
n.2457T>G
n.2401T>G
9g.14842413A>GCA464024439FREM1c.1641T>C (p.Ala547=)
n.2427T>C
c.1668T>C (p.Ala556=)
c.1260T>C (p.Ala420=)
c.744T>C (p.Ala248=)
n.2454T>C
n.2457T>C
n.2401T>C
9g.14842413A>TCA464024440FREM1c.1641T>A (p.Ala547=)
n.2427T>A
c.1668T>A (p.Ala556=)
c.1260T>A (p.Ala420=)
c.744T>A (p.Ala248=)
n.2454T>A
n.2457T>A
n.2401T>A
9g.14842414G>ACA372960194FREM1c.1640C>T (p.Ala547Val)
n.2426C>T
c.1667C>T (p.Ala556Val)
c.1259C>T (p.Ala420Val)
c.743C>T (p.Ala248Val)
n.2453C>T
n.2456C>T
n.2400C>T
9g.14842414G>CCA4991180FREM1c.1640C>G (p.Ala547Gly)
n.2426C>G
c.1667C>G (p.Ala556Gly)
c.1259C>G (p.Ala420Gly)
c.743C>G (p.Ala248Gly)
n.2453C>G
n.2456C>G
n.2400C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842414G=CA1835222348FREM1c.1640C= (p.Ala547=)
n.2426C=
c.1667C= (p.Ala556=)
c.1259C= (p.Ala420=)
c.743C= (p.Ala248=)
n.2453C=
n.2456C=
n.2400C=
9g.14842414G>TCA372960195FREM1c.1640C>A (p.Ala547Asp)
n.2426C>A
c.1667C>A (p.Ala556Asp)
c.1259C>A (p.Ala420Asp)
c.743C>A (p.Ala248Asp)
n.2453C>A
n.2456C>A
n.2400C>A

Number of alleles fetched