Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.14842486A>CCA372960343FREM1c.1568T>G (p.Phe523Cys)
n.2354T>G
c.1595T>G (p.Phe532Cys)
c.1187T>G (p.Phe396Cys)
c.671T>G (p.Phe224Cys)
n.2381T>G
n.2384T>G
n.2328T>G
9g.14842486A>GCA372960341FREM1c.1568T>C (p.Phe523Ser)
n.2354T>C
c.1595T>C (p.Phe532Ser)
c.1187T>C (p.Phe396Ser)
c.671T>C (p.Phe224Ser)
n.2381T>C
n.2384T>C
n.2328T>C
9g.14842486A>TCA372960342FREM1c.1568T>A (p.Phe523Tyr)
n.2354T>A
c.1595T>A (p.Phe532Tyr)
c.1187T>A (p.Phe396Tyr)
c.671T>A (p.Phe224Tyr)
n.2381T>A
n.2384T>A
n.2328T>A
9g.14842487A>CCA372960344FREM1c.1567T>G (p.Phe523Val)
n.2353T>G
c.1594T>G (p.Phe532Val)
c.1186T>G (p.Phe396Val)
c.670T>G (p.Phe224Val)
n.2380T>G
n.2383T>G
n.2327T>G
9g.14842487A>GCA372960345FREM1c.1567T>C (p.Phe523Leu)
n.2353T>C
c.1594T>C (p.Phe532Leu)
c.1186T>C (p.Phe396Leu)
c.670T>C (p.Phe224Leu)
n.2380T>C
n.2383T>C
n.2327T>C
9g.14842487A>TCA372960346FREM1c.1567T>A (p.Phe523Ile)
n.2353T>A
c.1594T>A (p.Phe532Ile)
c.1186T>A (p.Phe396Ile)
c.670T>A (p.Phe224Ile)
n.2380T>A
n.2383T>A
n.2327T>A
9g.14842488C>ACA4991196FREM1c.1566G>T (p.Pro522=)
n.2352G>T
c.1593G>T (p.Pro531=)
c.1185G>T (p.Pro395=)
c.669G>T (p.Pro223=)
n.2379G>T
n.2382G>T
n.2326G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842488C=CA1835222392FREM1c.1566G= (p.Pro522=)
n.2352G=
c.1593G= (p.Pro531=)
c.1185G= (p.Pro395=)
c.669G= (p.Pro223=)
n.2379G=
n.2382G=
n.2326G=
9g.14842488C>GCA4991197FREM1c.1566G>C (p.Pro522=)
n.2352G>C
c.1593G>C (p.Pro531=)
c.1185G>C (p.Pro395=)
c.669G>C (p.Pro223=)
n.2379G>C
n.2382G>C
n.2326G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842488C>TCA4991195FREM1c.1566G>A (p.Pro522=)
n.2352G>A
c.1593G>A (p.Pro531=)
c.1185G>A (p.Pro395=)
c.669G>A (p.Pro223=)
n.2379G>A
n.2382G>A
n.2326G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842489G>ACA4991198FREM1c.1565C>T (p.Pro522Leu)
n.2351C>T
c.1592C>T (p.Pro531Leu)
c.1184C>T (p.Pro395Leu)
c.668C>T (p.Pro223Leu)
n.2378C>T
n.2381C>T
n.2325C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842489G>CCA372960347FREM1c.1565C>G (p.Pro522Arg)
n.2351C>G
c.1592C>G (p.Pro531Arg)
c.1184C>G (p.Pro395Arg)
c.668C>G (p.Pro223Arg)
n.2378C>G
n.2381C>G
n.2325C>G
 gnomAD v4
9g.14842489G=CA1835222393FREM1c.1565C= (p.Pro522=)
n.2351C=
c.1592C= (p.Pro531=)
c.1184C= (p.Pro395=)
c.668C= (p.Pro223=)
n.2378C=
n.2381C=
n.2325C=
9g.14842489G>TCA372960348FREM1c.1565C>A (p.Pro522Gln)
n.2351C>A
c.1592C>A (p.Pro531Gln)
c.1184C>A (p.Pro395Gln)
c.668C>A (p.Pro223Gln)
n.2378C>A
n.2381C>A
n.2325C>A
9g.14842493delCA2579304636FREM1c.1565del (p.Pro522ArgfsTer4)
n.2351del
c.1592del (p.Pro531ArgfsTer4)
c.1184del (p.Pro395ArgfsTer4)
c.668del (p.Pro223ArgfsTer4)
n.2378del
n.2381del
n.2325del
9g.14842490G>ACA372960349FREM1c.1564C>T (p.Pro522Ser)
n.2350C>T
c.1591C>T (p.Pro531Ser)
c.1183C>T (p.Pro395Ser)
c.667C>T (p.Pro223Ser)
n.2377C>T
n.2380C>T
n.2324C>T
 dbSNP
9g.14842490G>CCA372960350FREM1c.1564C>G (p.Pro522Ala)
n.2350C>G
c.1591C>G (p.Pro531Ala)
c.1183C>G (p.Pro395Ala)
c.667C>G (p.Pro223Ala)
n.2377C>G
n.2380C>G
n.2324C>G
9g.14842490G=CA1835222394FREM1c.1564C= (p.Pro522=)
n.2350C=
c.1591C= (p.Pro531=)
c.1183C= (p.Pro395=)
c.667C= (p.Pro223=)
n.2377C=
n.2380C=
n.2324C=
9g.14842490G>TCA372960351FREM1c.1564C>A (p.Pro522Thr)
n.2350C>A
c.1591C>A (p.Pro531Thr)
c.1183C>A (p.Pro395Thr)
c.667C>A (p.Pro223Thr)
n.2377C>A
n.2380C>A
n.2324C>A
9g.14842491G>ACA4991199FREM1c.1563C>T (p.Pro521=)
n.2349C>T
c.1590C>T (p.Pro530=)
c.1182C>T (p.Pro394=)
c.666C>T (p.Pro222=)
n.2376C>T
n.2379C>T
n.2323C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842491G>CCA464024584FREM1c.1563C>G (p.Pro521=)
n.2349C>G
c.1590C>G (p.Pro530=)
c.1182C>G (p.Pro394=)
c.666C>G (p.Pro222=)
n.2376C>G
n.2379C>G
n.2323C>G
9g.14842491G=CA1835222395FREM1c.1563C= (p.Pro521=)
n.2349C=
c.1590C= (p.Pro530=)
c.1182C= (p.Pro394=)
c.666C= (p.Pro222=)
n.2376C=
n.2379C=
n.2323C=
9g.14842491G>TCA464024586FREM1c.1563C>A (p.Pro521=)
n.2349C>A
c.1590C>A (p.Pro530=)
c.1182C>A (p.Pro394=)
c.666C>A (p.Pro222=)
n.2376C>A
n.2379C>A
n.2323C>A
9g.14842492G>ACA372960353FREM1c.1562C>T (p.Pro521Leu)
n.2348C>T
c.1589C>T (p.Pro530Leu)
c.1181C>T (p.Pro394Leu)
c.665C>T (p.Pro222Leu)
n.2375C>T
n.2378C>T
n.2322C>T
 gnomAD v4
9g.14842492G>CCA372960352FREM1c.1562C>G (p.Pro521Arg)
n.2348C>G
c.1589C>G (p.Pro530Arg)
c.1181C>G (p.Pro394Arg)
c.665C>G (p.Pro222Arg)
n.2375C>G
n.2378C>G
n.2322C>G
9g.14842492G>TCA372960354FREM1c.1562C>A (p.Pro521His)
n.2348C>A
c.1589C>A (p.Pro530His)
c.1181C>A (p.Pro394His)
c.665C>A (p.Pro222His)
n.2375C>A
n.2378C>A
n.2322C>A
9g.14842493G>ACA372960355FREM1c.1561C>T (p.Pro521Ser)
n.2347C>T
c.1588C>T (p.Pro530Ser)
c.1180C>T (p.Pro394Ser)
c.664C>T (p.Pro222Ser)
n.2374C>T
n.2377C>T
n.2321C>T
 dbSNP
9g.14842493G>CCA372960356FREM1c.1561C>G (p.Pro521Ala)
n.2347C>G
c.1588C>G (p.Pro530Ala)
c.1180C>G (p.Pro394Ala)
c.664C>G (p.Pro222Ala)
n.2374C>G
n.2377C>G
n.2321C>G
9g.14842493G=CA1835222396FREM1c.1561C= (p.Pro521=)
n.2347C=
c.1588C= (p.Pro530=)
c.1180C= (p.Pro394=)
c.664C= (p.Pro222=)
n.2374C=
n.2377C=
n.2321C=
9g.14842493G>TCA372960357FREM1c.1561C>A (p.Pro521Thr)
n.2347C>A
c.1588C>A (p.Pro530Thr)
c.1180C>A (p.Pro394Thr)
c.664C>A (p.Pro222Thr)
n.2374C>A
n.2377C>A
n.2321C>A
 dbSNP gnomAD v4
9g.14842494A=CA1835222397FREM1c.1560T= (p.Ser520=)
n.2346T=
c.1587T= (p.Ser529=)
c.1179T= (p.Ser393=)
c.663T= (p.Ser221=)
n.2373T=
n.2376T=
n.2320T=
9g.14842494A>CCA372960358FREM1c.1560T>G (p.Ser520Arg)
n.2346T>G
c.1587T>G (p.Ser529Arg)
c.1179T>G (p.Ser393Arg)
c.663T>G (p.Ser221Arg)
n.2373T>G
n.2376T>G
n.2320T>G
9g.14842494A>GCA4991200FREM1c.1560T>C (p.Ser520=)
n.2346T>C
c.1587T>C (p.Ser529=)
c.1179T>C (p.Ser393=)
c.663T>C (p.Ser221=)
n.2373T>C
n.2376T>C
n.2320T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842494A>TCA372960359FREM1c.1560T>A (p.Ser520Arg)
n.2346T>A
c.1587T>A (p.Ser529Arg)
c.1179T>A (p.Ser393Arg)
c.663T>A (p.Ser221Arg)
n.2373T>A
n.2376T>A
n.2320T>A
9g.14842495C>ACA372960362FREM1c.1559G>T (p.Ser520Ile)
n.2345G>T
c.1586G>T (p.Ser529Ile)
c.1178G>T (p.Ser393Ile)
c.662G>T (p.Ser221Ile)
n.2372G>T
n.2375G>T
n.2319G>T
9g.14842495C=CA1835222398FREM1c.1559G= (p.Ser520=)
n.2345G=
c.1586G= (p.Ser529=)
c.1178G= (p.Ser393=)
c.662G= (p.Ser221=)
n.2372G=
n.2375G=
n.2319G=
9g.14842495C>GCA372960360FREM1c.1559G>C (p.Ser520Thr)
n.2345G>C
c.1586G>C (p.Ser529Thr)
c.1178G>C (p.Ser393Thr)
c.662G>C (p.Ser221Thr)
n.2372G>C
n.2375G>C
n.2319G>C
9g.14842495C>TCA372960361FREM1c.1559G>A (p.Ser520Asn)
n.2345G>A
c.1586G>A (p.Ser529Asn)
c.1178G>A (p.Ser393Asn)
c.662G>A (p.Ser221Asn)
n.2372G>A
n.2375G>A
n.2319G>A
 dbSNP gnomAD v4
9g.14842496T>ACA372960363FREM1c.1558A>T (p.Ser520Cys)
n.2344A>T
c.1585A>T (p.Ser529Cys)
c.1177A>T (p.Ser393Cys)
c.661A>T (p.Ser221Cys)
n.2371A>T
n.2374A>T
n.2318A>T
 dbSNP gnomAD v2 gnomAD v4
9g.14842496T>CCA372960364FREM1c.1558A>G (p.Ser520Gly)
n.2344A>G
c.1585A>G (p.Ser529Gly)
c.1177A>G (p.Ser393Gly)
c.661A>G (p.Ser221Gly)
n.2371A>G
n.2374A>G
n.2318A>G
9g.14842496T>GCA372960365FREM1c.1558A>C (p.Ser520Arg)
n.2344A>C
c.1585A>C (p.Ser529Arg)
c.1177A>C (p.Ser393Arg)
c.661A>C (p.Ser221Arg)
n.2371A>C
n.2374A>C
n.2318A>C
9g.14842496T=CA1835222399FREM1c.1558A= (p.Ser520=)
n.2344A=
c.1585A= (p.Ser529=)
c.1177A= (p.Ser393=)
c.661A= (p.Ser221=)
n.2371A=
n.2374A=
n.2318A=
9g.14842497A=CA1835222400FREM1c.1557T= (p.Asp519=)
n.2343T=
c.1584T= (p.Asp528=)
c.1176T= (p.Asp392=)
c.660T= (p.Asp220=)
n.2370T=
n.2373T=
n.2317T=
9g.14842497A>CCA372960366FREM1c.1557T>G (p.Asp519Glu)
n.2343T>G
c.1584T>G (p.Asp528Glu)
c.1176T>G (p.Asp392Glu)
c.660T>G (p.Asp220Glu)
n.2370T>G
n.2373T>G
n.2317T>G
9g.14842497A>GCA464024588FREM1c.1557T>C (p.Asp519=)
n.2343T>C
c.1584T>C (p.Asp528=)
c.1176T>C (p.Asp392=)
c.660T>C (p.Asp220=)
n.2370T>C
n.2373T>C
n.2317T>C
 dbSNP gnomAD v4
9g.14842497A>TCA372960367FREM1c.1557T>A (p.Asp519Glu)
n.2343T>A
c.1584T>A (p.Asp528Glu)
c.1176T>A (p.Asp392Glu)
c.660T>A (p.Asp220Glu)
n.2370T>A
n.2373T>A
n.2317T>A
9g.14842498T>ACA372960368FREM1c.1556A>T (p.Asp519Val)
n.2342A>T
c.1583A>T (p.Asp528Val)
c.1175A>T (p.Asp392Val)
c.659A>T (p.Asp220Val)
n.2369A>T
n.2372A>T
n.2316A>T
 gnomAD v4
9g.14842498T>CCA189364230FREM1c.1556A>G (p.Asp519Gly)
n.2342A>G
c.1583A>G (p.Asp528Gly)
c.1175A>G (p.Asp392Gly)
c.659A>G (p.Asp220Gly)
n.2369A>G
n.2372A>G
n.2316A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842498T>GCA372960369FREM1c.1556A>C (p.Asp519Ala)
n.2342A>C
c.1583A>C (p.Asp528Ala)
c.1175A>C (p.Asp392Ala)
c.659A>C (p.Asp220Ala)
n.2369A>C
n.2372A>C
n.2316A>C
9g.14842498T=CA1835222401FREM1c.1556A= (p.Asp519=)
n.2342A=
c.1583A= (p.Asp528=)
c.1175A= (p.Asp392=)
c.659A= (p.Asp220=)
n.2369A=
n.2372A=
n.2316A=
9g.14842499C>ACA372960370FREM1c.1555G>T (p.Asp519Tyr)
n.2341G>T
c.1582G>T (p.Asp528Tyr)
c.1174G>T (p.Asp392Tyr)
c.658G>T (p.Asp220Tyr)
n.2368G>T
n.2371G>T
n.2315G>T
9g.14842499C=CA1835222402FREM1c.1555G= (p.Asp519=)
n.2341G=
c.1582G= (p.Asp528=)
c.1174G= (p.Asp392=)
c.658G= (p.Asp220=)
n.2368G=
n.2371G=
n.2315G=
9g.14842499C>GCA372960371FREM1c.1555G>C (p.Asp519His)
n.2341G>C
c.1582G>C (p.Asp528His)
c.1174G>C (p.Asp392His)
c.658G>C (p.Asp220His)
n.2368G>C
n.2371G>C
n.2315G>C
 dbSNP gnomAD v2 gnomAD v4
9g.14842499C>TCA372960372FREM1c.1555G>A (p.Asp519Asn)
n.2341G>A
c.1582G>A (p.Asp528Asn)
c.1174G>A (p.Asp392Asn)
c.658G>A (p.Asp220Asn)
n.2368G>A
n.2371G>A
n.2315G>A
9g.14842500A=CA1835222403FREM1c.1554T= (p.Asp518=)
n.2340T=
c.1581T= (p.Asp527=)
c.1173T= (p.Asp391=)
c.657T= (p.Asp219=)
n.2367T=
n.2370T=
n.2314T=
9g.14842500A>CCA372960373FREM1c.1554T>G (p.Asp518Glu)
n.2340T>G
c.1581T>G (p.Asp527Glu)
c.1173T>G (p.Asp391Glu)
c.657T>G (p.Asp219Glu)
n.2367T>G
n.2370T>G
n.2314T>G
9g.14842500A>GCA464024591FREM1c.1554T>C (p.Asp518=)
n.2340T>C
c.1581T>C (p.Asp527=)
c.1173T>C (p.Asp391=)
c.657T>C (p.Asp219=)
n.2367T>C
n.2370T>C
n.2314T>C
 dbSNP gnomAD v4
9g.14842500A>TCA372960374FREM1c.1554T>A (p.Asp518Glu)
n.2340T>A
c.1581T>A (p.Asp527Glu)
c.1173T>A (p.Asp391Glu)
c.657T>A (p.Asp219Glu)
n.2367T>A
n.2370T>A
n.2314T>A
9g.14842501T>ACA372960375FREM1c.1553A>T (p.Asp518Val)
n.2339A>T
c.1580A>T (p.Asp527Val)
c.1172A>T (p.Asp391Val)
c.656A>T (p.Asp219Val)
n.2366A>T
n.2369A>T
n.2313A>T
9g.14842501T>CCA372960376FREM1c.1553A>G (p.Asp518Gly)
n.2339A>G
c.1580A>G (p.Asp527Gly)
c.1172A>G (p.Asp391Gly)
c.656A>G (p.Asp219Gly)
n.2366A>G
n.2369A>G
n.2313A>G
9g.14842501T>GCA372960377FREM1c.1553A>C (p.Asp518Ala)
n.2339A>C
c.1580A>C (p.Asp527Ala)
c.1172A>C (p.Asp391Ala)
c.656A>C (p.Asp219Ala)
n.2366A>C
n.2369A>C
n.2313A>C
 gnomAD v4
9g.14842502C>ACA372960378FREM1c.1552G>T (p.Asp518Tyr)
n.2338G>T
c.1579G>T (p.Asp527Tyr)
c.1171G>T (p.Asp391Tyr)
c.655G>T (p.Asp219Tyr)
n.2365G>T
n.2368G>T
n.2312G>T
 dbSNP
9g.14842502C=CA1835222404FREM1c.1552G= (p.Asp518=)
n.2338G=
c.1579G= (p.Asp527=)
c.1171G= (p.Asp391=)
c.655G= (p.Asp219=)
n.2365G=
n.2368G=
n.2312G=
9g.14842502C>GCA372960379FREM1c.1552G>C (p.Asp518His)
n.2338G>C
c.1579G>C (p.Asp527His)
c.1171G>C (p.Asp391His)
c.655G>C (p.Asp219His)
n.2365G>C
n.2368G>C
n.2312G>C
9g.14842502C>TCA372960380FREM1c.1552G>A (p.Asp518Asn)
n.2338G>A
c.1579G>A (p.Asp527Asn)
c.1171G>A (p.Asp391Asn)
c.655G>A (p.Asp219Asn)
n.2365G>A
n.2368G>A
n.2312G>A
9g.14842503_14842514delCA2689439140FREM1c.1541_1552del (p.Val514_Lys517del)
n.2327_2338del
c.1568_1579del (p.Val523_Lys526del)
c.1160_1171del (p.Val387_Lys390del)
c.644_655del (p.Val215_Lys218del)
n.2354_2365del
n.2357_2368del
n.2301_2312del
 gnomAD v4
9g.14842503T>ACA372960381FREM1c.1551A>T (p.Lys517Asn)
n.2337A>T
c.1578A>T (p.Lys526Asn)
c.1170A>T (p.Lys390Asn)
c.654A>T (p.Lys218Asn)
n.2364A>T
n.2367A>T
n.2311A>T
9g.14842503T>CCA464024594FREM1c.1551A>G (p.Lys517=)
n.2337A>G
c.1578A>G (p.Lys526=)
c.1170A>G (p.Lys390=)
c.654A>G (p.Lys218=)
n.2364A>G
n.2367A>G
n.2311A>G
9g.14842503T>GCA372960382FREM1c.1551A>C (p.Lys517Asn)
n.2337A>C
c.1578A>C (p.Lys526Asn)
c.1170A>C (p.Lys390Asn)
c.654A>C (p.Lys218Asn)
n.2364A>C
n.2367A>C
n.2311A>C
9g.14842504T>ACA372960383FREM1c.1550A>T (p.Lys517Ile)
n.2336A>T
c.1577A>T (p.Lys526Ile)
c.1169A>T (p.Lys390Ile)
c.653A>T (p.Lys218Ile)
n.2363A>T
n.2366A>T
n.2310A>T
9g.14842504T>CCA372960384FREM1c.1550A>G (p.Lys517Arg)
n.2336A>G
c.1577A>G (p.Lys526Arg)
c.1169A>G (p.Lys390Arg)
c.653A>G (p.Lys218Arg)
n.2363A>G
n.2366A>G
n.2310A>G
9g.14842504T>GCA372960385FREM1c.1550A>C (p.Lys517Thr)
n.2336A>C
c.1577A>C (p.Lys526Thr)
c.1169A>C (p.Lys390Thr)
c.653A>C (p.Lys218Thr)
n.2363A>C
n.2366A>C
n.2310A>C
9g.14842505T>ACA372960386FREM1c.1549A>T (p.Lys517Ter)
n.2335A>T
c.1576A>T (p.Lys526Ter)
c.1168A>T (p.Lys390Ter)
c.652A>T (p.Lys218Ter)
n.2362A>T
n.2365A>T
n.2309A>T
9g.14842505T>CCA372960387FREM1c.1549A>G (p.Lys517Glu)
n.2335A>G
c.1576A>G (p.Lys526Glu)
c.1168A>G (p.Lys390Glu)
c.652A>G (p.Lys218Glu)
n.2362A>G
n.2365A>G
n.2309A>G
9g.14842505T>GCA372960388FREM1c.1549A>C (p.Lys517Gln)
n.2335A>C
c.1576A>C (p.Lys526Gln)
c.1168A>C (p.Lys390Gln)
c.652A>C (p.Lys218Gln)
n.2362A>C
n.2365A>C
n.2309A>C
9g.14842506G>ACA464024598FREM1c.1548C>T (p.Pro516=)
n.2334C>T
c.1575C>T (p.Pro525=)
c.1167C>T (p.Pro389=)
c.651C>T (p.Pro217=)
n.2361C>T
n.2364C>T
n.2308C>T
 COSMIC
9g.14842506G>CCA464024599FREM1c.1548C>G (p.Pro516=)
n.2334C>G
c.1575C>G (p.Pro525=)
c.1167C>G (p.Pro389=)
c.651C>G (p.Pro217=)
n.2361C>G
n.2364C>G
n.2308C>G
9g.14842506G>TCA464024600FREM1c.1548C>A (p.Pro516=)
n.2334C>A
c.1575C>A (p.Pro525=)
c.1167C>A (p.Pro389=)
c.651C>A (p.Pro217=)
n.2361C>A
n.2364C>A
n.2308C>A
9g.14842507G>ACA372960390FREM1c.1547C>T (p.Pro516Leu)
n.2333C>T
c.1574C>T (p.Pro525Leu)
c.1166C>T (p.Pro389Leu)
c.650C>T (p.Pro217Leu)
n.2360C>T
n.2363C>T
n.2307C>T
 dbSNP gnomAD v4
9g.14842507G>CCA372960389FREM1c.1547C>G (p.Pro516Arg)
n.2333C>G
c.1574C>G (p.Pro525Arg)
c.1166C>G (p.Pro389Arg)
c.650C>G (p.Pro217Arg)
n.2360C>G
n.2363C>G
n.2307C>G
 COSMIC
9g.14842507G=CA1835222405FREM1c.1547C= (p.Pro516=)
n.2333C=
c.1574C= (p.Pro525=)
c.1166C= (p.Pro389=)
c.650C= (p.Pro217=)
n.2360C=
n.2363C=
n.2307C=
9g.14842507G>TCA4991201FREM1c.1547C>A (p.Pro516His)
n.2333C>A
c.1574C>A (p.Pro525His)
c.1166C>A (p.Pro389His)
c.650C>A (p.Pro217His)
n.2360C>A
n.2363C>A
n.2307C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842508G>ACA372960391FREM1c.1546C>T (p.Pro516Ser)
n.2332C>T
c.1573C>T (p.Pro525Ser)
c.1165C>T (p.Pro389Ser)
c.649C>T (p.Pro217Ser)
n.2359C>T
n.2362C>T
n.2306C>T
 COSMIC
9g.14842508G>CCA372960392FREM1c.1546C>G (p.Pro516Ala)
n.2332C>G
c.1573C>G (p.Pro525Ala)
c.1165C>G (p.Pro389Ala)
c.649C>G (p.Pro217Ala)
n.2359C>G
n.2362C>G
n.2306C>G
 gnomAD v4
9g.14842508G>TCA372960393FREM1c.1546C>A (p.Pro516Thr)
n.2332C>A
c.1573C>A (p.Pro525Thr)
c.1165C>A (p.Pro389Thr)
c.649C>A (p.Pro217Thr)
n.2359C>A
n.2362C>A
n.2306C>A
9g.14842509C>ACA372960394FREM1c.1545G>T (p.Leu515Phe)
n.2331G>T
c.1572G>T (p.Leu524Phe)
c.1164G>T (p.Leu388Phe)
c.648G>T (p.Leu216Phe)
n.2358G>T
n.2361G>T
n.2305G>T
 dbSNP gnomAD v4
9g.14842509C=CA1835222406FREM1c.1545G= (p.Leu515=)
n.2331G=
c.1572G= (p.Leu524=)
c.1164G= (p.Leu388=)
c.648G= (p.Leu216=)
n.2358G=
n.2361G=
n.2305G=
9g.14842509C>GCA372960395FREM1c.1545G>C (p.Leu515Phe)
n.2331G>C
c.1572G>C (p.Leu524Phe)
c.1164G>C (p.Leu388Phe)
c.648G>C (p.Leu216Phe)
n.2358G>C
n.2361G>C
n.2305G>C
9g.14842509C>TCA464024601FREM1c.1545G>A (p.Leu515=)
n.2331G>A
c.1572G>A (p.Leu524=)
c.1164G>A (p.Leu388=)
c.648G>A (p.Leu216=)
n.2358G>A
n.2361G>A
n.2305G>A
9g.14842510A>CCA372960396FREM1c.1544T>G (p.Leu515Trp)
n.2330T>G
c.1571T>G (p.Leu524Trp)
c.1163T>G (p.Leu388Trp)
c.647T>G (p.Leu216Trp)
n.2357T>G
n.2360T>G
n.2304T>G
9g.14842510A>GCA372960398FREM1c.1544T>C (p.Leu515Ser)
n.2330T>C
c.1571T>C (p.Leu524Ser)
c.1163T>C (p.Leu388Ser)
c.647T>C (p.Leu216Ser)
n.2357T>C
n.2360T>C
n.2304T>C
9g.14842510A>TCA372960397FREM1c.1544T>A (p.Leu515Ter)
n.2330T>A
c.1571T>A (p.Leu524Ter)
c.1163T>A (p.Leu388Ter)
c.647T>A (p.Leu216Ter)
n.2357T>A
n.2360T>A
n.2304T>A
9g.14842511A>CCA372960399FREM1c.1543T>G (p.Leu515Val)
n.2329T>G
c.1570T>G (p.Leu524Val)
c.1162T>G (p.Leu388Val)
c.646T>G (p.Leu216Val)
n.2356T>G
n.2359T>G
n.2303T>G
9g.14842511A>GCA464024605FREM1c.1543T>C (p.Leu515=)
n.2329T>C
c.1570T>C (p.Leu524=)
c.1162T>C (p.Leu388=)
c.646T>C (p.Leu216=)
n.2356T>C
n.2359T>C
n.2303T>C
9g.14842511A>TCA372960400FREM1c.1543T>A (p.Leu515Met)
n.2329T>A
c.1570T>A (p.Leu524Met)
c.1162T>A (p.Leu388Met)
c.646T>A (p.Leu216Met)
n.2356T>A
n.2359T>A
n.2303T>A
9g.14842512G>ACA464024606FREM1c.1542C>T (p.Val514=)
n.2328C>T
c.1569C>T (p.Val523=)
c.1161C>T (p.Val387=)
c.645C>T (p.Val215=)
n.2355C>T
n.2358C>T
n.2302C>T
9g.14842512G>CCA464024608FREM1c.1542C>G (p.Val514=)
n.2328C>G
c.1569C>G (p.Val523=)
c.1161C>G (p.Val387=)
c.645C>G (p.Val215=)
n.2355C>G
n.2358C>G
n.2302C>G
 dbSNP
9g.14842512G>TCA464024607FREM1c.1542C>A (p.Val514=)
n.2328C>A
c.1569C>A (p.Val523=)
c.1161C>A (p.Val387=)
c.645C>A (p.Val215=)
n.2355C>A
n.2358C>A
n.2302C>A
 gnomAD v4
9g.14842513A>CCA372960401FREM1c.1541T>G (p.Val514Gly)
n.2327T>G
c.1568T>G (p.Val523Gly)
c.1160T>G (p.Val387Gly)
c.644T>G (p.Val215Gly)
n.2354T>G
n.2357T>G
n.2301T>G
9g.14842513A>GCA372960402FREM1c.1541T>C (p.Val514Ala)
n.2327T>C
c.1568T>C (p.Val523Ala)
c.1160T>C (p.Val387Ala)
c.644T>C (p.Val215Ala)
n.2354T>C
n.2357T>C
n.2301T>C
9g.14842513A>TCA372960403FREM1c.1541T>A (p.Val514Asp)
n.2327T>A
c.1568T>A (p.Val523Asp)
c.1160T>A (p.Val387Asp)
c.644T>A (p.Val215Asp)
n.2354T>A
n.2357T>A
n.2301T>A
 gnomAD v4
9g.14842514C>ACA372960404FREM1c.1540G>T (p.Val514Phe)
n.2326G>T
c.1567G>T (p.Val523Phe)
c.1159G>T (p.Val387Phe)
c.643G>T (p.Val215Phe)
n.2353G>T
n.2356G>T
n.2300G>T
9g.14842514C=CA1835222407FREM1c.1540G= (p.Val514=)
n.2326G=
c.1567G= (p.Val523=)
c.1159G= (p.Val387=)
c.643G= (p.Val215=)
n.2353G=
n.2356G=
n.2300G=
9g.14842514C>GCA372960405FREM1c.1540G>C (p.Val514Leu)
n.2326G>C
c.1567G>C (p.Val523Leu)
c.1159G>C (p.Val387Leu)
c.643G>C (p.Val215Leu)
n.2353G>C
n.2356G>C
n.2300G>C
9g.14842514C>TCA4991202FREM1c.1540G>A (p.Val514Ile)
n.2326G>A
c.1567G>A (p.Val523Ile)
c.1159G>A (p.Val387Ile)
c.643G>A (p.Val215Ile)
n.2353G>A
n.2356G>A
n.2300G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842515G>ACA4991203FREM1c.1539C>T (p.Asn513=)
n.2325C>T
c.1566C>T (p.Asn522=)
c.1158C>T (p.Asn386=)
c.642C>T (p.Asn214=)
n.2352C>T
n.2355C>T
n.2299C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842515G>CCA372960406FREM1c.1539C>G (p.Asn513Lys)
n.2325C>G
c.1566C>G (p.Asn522Lys)
c.1158C>G (p.Asn386Lys)
c.642C>G (p.Asn214Lys)
n.2352C>G
n.2355C>G
n.2299C>G
9g.14842515G=CA1835222408FREM1c.1539C= (p.Asn513=)
n.2325C=
c.1566C= (p.Asn522=)
c.1158C= (p.Asn386=)
c.642C= (p.Asn214=)
n.2352C=
n.2355C=
n.2299C=
9g.14842515G>TCA372960407FREM1c.1539C>A (p.Asn513Lys)
n.2325C>A
c.1566C>A (p.Asn522Lys)
c.1158C>A (p.Asn386Lys)
c.642C>A (p.Asn214Lys)
n.2352C>A
n.2355C>A
n.2299C>A
 gnomAD v4
9g.14842516T>ACA4991204FREM1c.1538A>T (p.Asn513Ile)
n.2324A>T
c.1565A>T (p.Asn522Ile)
c.1157A>T (p.Asn386Ile)
c.641A>T (p.Asn214Ile)
n.2351A>T
n.2354A>T
n.2298A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842516T>CCA372960409FREM1c.1538A>G (p.Asn513Ser)
n.2324A>G
c.1565A>G (p.Asn522Ser)
c.1157A>G (p.Asn386Ser)
c.641A>G (p.Asn214Ser)
n.2351A>G
n.2354A>G
n.2298A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842516T>GCA372960408FREM1c.1538A>C (p.Asn513Thr)
n.2324A>C
c.1565A>C (p.Asn522Thr)
c.1157A>C (p.Asn386Thr)
c.641A>C (p.Asn214Thr)
n.2351A>C
n.2354A>C
n.2298A>C
9g.14842516T=CA1835222409FREM1c.1538A= (p.Asn513=)
n.2324A=
c.1565A= (p.Asn522=)
c.1157A= (p.Asn386=)
c.641A= (p.Asn214=)
n.2351A=
n.2354A=
n.2298A=
9g.14842517T>ACA372960410FREM1c.1537A>T (p.Asn513Tyr)
n.2323A>T
c.1564A>T (p.Asn522Tyr)
c.1156A>T (p.Asn386Tyr)
c.640A>T (p.Asn214Tyr)
n.2350A>T
n.2353A>T
n.2297A>T
9g.14842517T>CCA372960411FREM1c.1537A>G (p.Asn513Asp)
n.2323A>G
c.1564A>G (p.Asn522Asp)
c.1156A>G (p.Asn386Asp)
c.640A>G (p.Asn214Asp)
n.2350A>G
n.2353A>G
n.2297A>G
9g.14842517T>GCA372960412FREM1c.1537A>C (p.Asn513His)
n.2323A>C
c.1564A>C (p.Asn522His)
c.1156A>C (p.Asn386His)
c.640A>C (p.Asn214His)
n.2350A>C
n.2353A>C
n.2297A>C
9g.14842518G>ACA464024612FREM1c.1536C>T (p.Ile512=)
n.2322C>T
c.1563C>T (p.Ile521=)
c.1155C>T (p.Ile385=)
c.639C>T (p.Ile213=)
n.2349C>T
n.2352C>T
n.2296C>T
9g.14842518G>CCA372960413FREM1c.1536C>G (p.Ile512Met)
n.2322C>G
c.1563C>G (p.Ile521Met)
c.1155C>G (p.Ile385Met)
c.639C>G (p.Ile213Met)
n.2349C>G
n.2352C>G
n.2296C>G
9g.14842518G>TCA464024613FREM1c.1536C>A (p.Ile512=)
n.2322C>A
c.1563C>A (p.Ile521=)
c.1155C>A (p.Ile385=)
c.639C>A (p.Ile213=)
n.2349C>A
n.2352C>A
n.2296C>A
9g.14842519A>CCA372960414FREM1c.1535T>G (p.Ile512Ser)
n.2321T>G
c.1562T>G (p.Ile521Ser)
c.1154T>G (p.Ile385Ser)
c.638T>G (p.Ile213Ser)
n.2348T>G
n.2351T>G
n.2295T>G
9g.14842519A>GCA372960415FREM1c.1535T>C (p.Ile512Thr)
n.2321T>C
c.1562T>C (p.Ile521Thr)
c.1154T>C (p.Ile385Thr)
c.638T>C (p.Ile213Thr)
n.2348T>C
n.2351T>C
n.2295T>C
9g.14842519A>TCA372960416FREM1c.1535T>A (p.Ile512Asn)
n.2321T>A
c.1562T>A (p.Ile521Asn)
c.1154T>A (p.Ile385Asn)
c.638T>A (p.Ile213Asn)
n.2348T>A
n.2351T>A
n.2295T>A
9g.14842520T>ACA372960419FREM1c.1534A>T (p.Ile512Phe)
n.2320A>T
c.1561A>T (p.Ile521Phe)
c.1153A>T (p.Ile385Phe)
c.637A>T (p.Ile213Phe)
n.2347A>T
n.2350A>T
n.2294A>T
9g.14842520T>CCA372960417FREM1c.1534A>G (p.Ile512Val)
n.2320A>G
c.1561A>G (p.Ile521Val)
c.1153A>G (p.Ile385Val)
c.637A>G (p.Ile213Val)
n.2347A>G
n.2350A>G
n.2294A>G
9g.14842520T>GCA372960418FREM1c.1534A>C (p.Ile512Leu)
n.2320A>C
c.1561A>C (p.Ile521Leu)
c.1153A>C (p.Ile385Leu)
c.637A>C (p.Ile213Leu)
n.2347A>C
n.2350A>C
n.2294A>C
9g.14842521G>ACA189364240FREM1c.1533C>T (p.Pro511=)
n.2319C>T
c.1560C>T (p.Pro520=)
c.1152C>T (p.Pro384=)
c.636C>T (p.Pro212=)
n.2346C>T
n.2349C>T
n.2293C>T
 dbSNP gnomAD v4
9g.14842521G>CCA464024618FREM1c.1533C>G (p.Pro511=)
n.2319C>G
c.1560C>G (p.Pro520=)
c.1152C>G (p.Pro384=)
c.636C>G (p.Pro212=)
n.2346C>G
n.2349C>G
n.2293C>G
9g.14842521G=CA1835222410FREM1c.1533C= (p.Pro511=)
n.2319C=
c.1560C= (p.Pro520=)
c.1152C= (p.Pro384=)
c.636C= (p.Pro212=)
n.2346C=
n.2349C=
n.2293C=
9g.14842521G>TCA464024617FREM1c.1533C>A (p.Pro511=)
n.2319C>A
c.1560C>A (p.Pro520=)
c.1152C>A (p.Pro384=)
c.636C>A (p.Pro212=)
n.2346C>A
n.2349C>A
n.2293C>A
9g.14842522G>ACA372960420FREM1c.1532C>T (p.Pro511Leu)
n.2318C>T
c.1559C>T (p.Pro520Leu)
c.1151C>T (p.Pro384Leu)
c.635C>T (p.Pro212Leu)
n.2345C>T
n.2348C>T
n.2292C>T
9g.14842522G>CCA372960421FREM1c.1532C>G (p.Pro511Arg)
n.2318C>G
c.1559C>G (p.Pro520Arg)
c.1151C>G (p.Pro384Arg)
c.635C>G (p.Pro212Arg)
n.2345C>G
n.2348C>G
n.2292C>G
9g.14842522G>TCA372960422FREM1c.1532C>A (p.Pro511His)
n.2318C>A
c.1559C>A (p.Pro520His)
c.1151C>A (p.Pro384His)
c.635C>A (p.Pro212His)
n.2345C>A
n.2348C>A
n.2292C>A
 COSMIC
9g.14842523G>ACA372960423FREM1c.1531C>T (p.Pro511Ser)
n.2317C>T
c.1558C>T (p.Pro520Ser)
c.1150C>T (p.Pro384Ser)
c.634C>T (p.Pro212Ser)
n.2344C>T
n.2347C>T
n.2291C>T
 gnomAD v4
9g.14842523G>CCA372960424FREM1c.1531C>G (p.Pro511Ala)
n.2317C>G
c.1558C>G (p.Pro520Ala)
c.1150C>G (p.Pro384Ala)
c.634C>G (p.Pro212Ala)
n.2344C>G
n.2347C>G
n.2291C>G
9g.14842523G>TCA372960425FREM1c.1531C>A (p.Pro511Thr)
n.2317C>A
c.1558C>A (p.Pro520Thr)
c.1150C>A (p.Pro384Thr)
c.634C>A (p.Pro212Thr)
n.2344C>A
n.2347C>A
n.2291C>A
9g.14842524G>ACA4991205FREM1c.1530C>T (p.Phe510=)
n.2316C>T
c.1557C>T (p.Phe519=)
c.1149C>T (p.Phe383=)
c.633C>T (p.Phe211=)
n.2343C>T
n.2346C>T
n.2290C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842524G>CCA372960427FREM1c.1530C>G (p.Phe510Leu)
n.2316C>G
c.1557C>G (p.Phe519Leu)
c.1149C>G (p.Phe383Leu)
c.633C>G (p.Phe211Leu)
n.2343C>G
n.2346C>G
n.2290C>G
9g.14842524G=CA1835222411FREM1c.1530C= (p.Phe510=)
n.2316C=
c.1557C= (p.Phe519=)
c.1149C= (p.Phe383=)
c.633C= (p.Phe211=)
n.2343C=
n.2346C=
n.2290C=
9g.14842524G>TCA372960426FREM1c.1530C>A (p.Phe510Leu)
n.2316C>A
c.1557C>A (p.Phe519Leu)
c.1149C>A (p.Phe383Leu)
c.633C>A (p.Phe211Leu)
n.2343C>A
n.2346C>A
n.2290C>A
 gnomAD v4
9g.14842525A=CA1835222412FREM1c.1529T= (p.Phe510=)
n.2315T=
c.1556T= (p.Phe519=)
c.1148T= (p.Phe383=)
c.632T= (p.Phe211=)
n.2342T=
n.2345T=
n.2289T=
9g.14842525A>CCA372960428FREM1c.1529T>G (p.Phe510Cys)
n.2315T>G
c.1556T>G (p.Phe519Cys)
c.1148T>G (p.Phe383Cys)
c.632T>G (p.Phe211Cys)
n.2342T>G
n.2345T>G
n.2289T>G
9g.14842525A>GCA372960429FREM1c.1529T>C (p.Phe510Ser)
n.2315T>C
c.1556T>C (p.Phe519Ser)
c.1148T>C (p.Phe383Ser)
c.632T>C (p.Phe211Ser)
n.2342T>C
n.2345T>C
n.2289T>C
 dbSNP gnomAD v2 gnomAD v4
9g.14842525A>TCA372960430FREM1c.1529T>A (p.Phe510Tyr)
n.2315T>A
c.1556T>A (p.Phe519Tyr)
c.1148T>A (p.Phe383Tyr)
c.632T>A (p.Phe211Tyr)
n.2342T>A
n.2345T>A
n.2289T>A
9g.14842526A>CCA372960431FREM1c.1528T>G (p.Phe510Val)
n.2314T>G
c.1555T>G (p.Phe519Val)
c.1147T>G (p.Phe383Val)
c.631T>G (p.Phe211Val)
n.2341T>G
n.2344T>G
n.2288T>G
9g.14842526A>GCA372960432FREM1c.1528T>C (p.Phe510Leu)
n.2314T>C
c.1555T>C (p.Phe519Leu)
c.1147T>C (p.Phe383Leu)
c.631T>C (p.Phe211Leu)
n.2341T>C
n.2344T>C
n.2288T>C
9g.14842526A>TCA372960433FREM1c.1528T>A (p.Phe510Ile)
n.2314T>A
c.1555T>A (p.Phe519Ile)
c.1147T>A (p.Phe383Ile)
c.631T>A (p.Phe211Ile)
n.2341T>A
n.2344T>A
n.2288T>A
9g.14842527T>ACA372960434FREM1c.1527A>T (p.Lys509Asn)
n.2313A>T
c.1554A>T (p.Lys518Asn)
c.1146A>T (p.Lys382Asn)
c.630A>T (p.Lys210Asn)
n.2340A>T
n.2343A>T
n.2287A>T
9g.14842527T>CCA4991206FREM1c.1527A>G (p.Lys509=)
n.2313A>G
c.1554A>G (p.Lys518=)
c.1146A>G (p.Lys382=)
c.630A>G (p.Lys210=)
n.2340A>G
n.2343A>G
n.2287A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842527T>GCA372960435FREM1c.1527A>C (p.Lys509Asn)
n.2313A>C
c.1554A>C (p.Lys518Asn)
c.1146A>C (p.Lys382Asn)
c.630A>C (p.Lys210Asn)
n.2340A>C
n.2343A>C
n.2287A>C
9g.14842527T=CA1835222413FREM1c.1527A= (p.Lys509=)
n.2313A=
c.1554A= (p.Lys518=)
c.1146A= (p.Lys382=)
c.630A= (p.Lys210=)
n.2340A=
n.2343A=
n.2287A=
9g.14842528T>ACA372960436FREM1c.1526A>T (p.Lys509Ile)
n.2312A>T
c.1553A>T (p.Lys518Ile)
c.1145A>T (p.Lys382Ile)
c.629A>T (p.Lys210Ile)
n.2339A>T
n.2342A>T
n.2286A>T
9g.14842528T>CCA4991207FREM1c.1526A>G (p.Lys509Arg)
n.2312A>G
c.1553A>G (p.Lys518Arg)
c.1145A>G (p.Lys382Arg)
c.629A>G (p.Lys210Arg)
n.2339A>G
n.2342A>G
n.2286A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842528T>GCA372960437FREM1c.1526A>C (p.Lys509Thr)
n.2312A>C
c.1553A>C (p.Lys518Thr)
c.1145A>C (p.Lys382Thr)
c.629A>C (p.Lys210Thr)
n.2339A>C
n.2342A>C
n.2286A>C
9g.14842528T=CA1835222414FREM1c.1526A= (p.Lys509=)
n.2312A=
c.1553A= (p.Lys518=)
c.1145A= (p.Lys382=)
c.629A= (p.Lys210=)
n.2339A=
n.2342A=
n.2286A=
9g.14842529T>ACA372960440FREM1c.1525A>T (p.Lys509Ter)
n.2311A>T
c.1552A>T (p.Lys518Ter)
c.1144A>T (p.Lys382Ter)
c.628A>T (p.Lys210Ter)
n.2338A>T
n.2341A>T
n.2285A>T
9g.14842529T>CCA372960438FREM1c.1525A>G (p.Lys509Glu)
n.2311A>G
c.1552A>G (p.Lys518Glu)
c.1144A>G (p.Lys382Glu)
c.628A>G (p.Lys210Glu)
n.2338A>G
n.2341A>G
n.2285A>G
9g.14842529T>GCA372960439FREM1c.1525A>C (p.Lys509Gln)
n.2311A>C
c.1552A>C (p.Lys518Gln)
c.1144A>C (p.Lys382Gln)
c.628A>C (p.Lys210Gln)
n.2338A>C
n.2341A>C
n.2285A>C
9g.14842530G>ACA464024625FREM1c.1524C>T (p.His508=)
n.2310C>T
c.1551C>T (p.His517=)
c.1143C>T (p.His381=)
c.627C>T (p.His209=)
n.2337C>T
n.2340C>T
n.2284C>T
9g.14842530G>CCA372960441FREM1c.1524C>G (p.His508Gln)
n.2310C>G
c.1551C>G (p.His517Gln)
c.1143C>G (p.His381Gln)
c.627C>G (p.His209Gln)
n.2337C>G
n.2340C>G
n.2284C>G
9g.14842530G=CA1835222415FREM1c.1524C= (p.His508=)
n.2310C=
c.1551C= (p.His517=)
c.1143C= (p.His381=)
c.627C= (p.His209=)
n.2337C=
n.2340C=
n.2284C=
9g.14842530G>TCA189364252FREM1c.1524C>A (p.His508Gln)
n.2310C>A
c.1551C>A (p.His517Gln)
c.1143C>A (p.His381Gln)
c.627C>A (p.His209Gln)
n.2337C>A
n.2340C>A
n.2284C>A
 dbSNP gnomAD v3 gnomAD v4
9g.14842531T>ACA372960442FREM1c.1523A>T (p.His508Leu)
n.2309A>T
c.1550A>T (p.His517Leu)
c.1142A>T (p.His381Leu)
c.626A>T (p.His209Leu)
n.2336A>T
n.2339A>T
n.2283A>T
9g.14842531T>CCA372960443FREM1c.1523A>G (p.His508Arg)
n.2309A>G
c.1550A>G (p.His517Arg)
c.1142A>G (p.His381Arg)
c.626A>G (p.His209Arg)
n.2336A>G
n.2339A>G
n.2283A>G
9g.14842531T>GCA372960444FREM1c.1523A>C (p.His508Pro)
n.2309A>C
c.1550A>C (p.His517Pro)
c.1142A>C (p.His381Pro)
c.626A>C (p.His209Pro)
n.2336A>C
n.2339A>C
n.2283A>C
9g.14842532G>ACA372960445FREM1c.1522C>T (p.His508Tyr)
n.2308C>T
c.1549C>T (p.His517Tyr)
c.1141C>T (p.His381Tyr)
c.625C>T (p.His209Tyr)
n.2335C>T
n.2338C>T
n.2282C>T
9g.14842532G>CCA372960446FREM1c.1522C>G (p.His508Asp)
n.2308C>G
c.1549C>G (p.His517Asp)
c.1141C>G (p.His381Asp)
c.625C>G (p.His209Asp)
n.2335C>G
n.2338C>G
n.2282C>G
9g.14842532G>TCA372960447FREM1c.1522C>A (p.His508Asn)
n.2308C>A
c.1549C>A (p.His517Asn)
c.1141C>A (p.His381Asn)
c.625C>A (p.His209Asn)
n.2335C>A
n.2338C>A
n.2282C>A
9g.14842533A=CA1835222416FREM1c.1521T= (p.Arg507=)
n.2307T=
c.1548T= (p.Arg516=)
c.1140T= (p.Arg380=)
c.624T= (p.Arg208=)
n.2334T=
n.2337T=
n.2281T=
9g.14842533A>CCA464024628FREM1c.1521T>G (p.Arg507=)
n.2307T>G
c.1548T>G (p.Arg516=)
c.1140T>G (p.Arg380=)
c.624T>G (p.Arg208=)
n.2334T>G
n.2337T>G
n.2281T>G
9g.14842533A>GCA4991208FREM1c.1521T>C (p.Arg507=)
n.2307T>C
c.1548T>C (p.Arg516=)
c.1140T>C (p.Arg380=)
c.624T>C (p.Arg208=)
n.2334T>C
n.2337T>C
n.2281T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842533A>TCA464024629FREM1c.1521T>A (p.Arg507=)
n.2307T>A
c.1548T>A (p.Arg516=)
c.1140T>A (p.Arg380=)
c.624T>A (p.Arg208=)
n.2334T>A
n.2337T>A
n.2281T>A
9g.14842534C>ACA372960448FREM1c.1520G>T (p.Arg507Leu)
n.2306G>T
c.1547G>T (p.Arg516Leu)
c.1139G>T (p.Arg380Leu)
c.623G>T (p.Arg208Leu)
n.2333G>T
n.2336G>T
n.2280G>T
 COSMIC
9g.14842534C=CA1835222417FREM1c.1520G= (p.Arg507=)
n.2306G=
c.1547G= (p.Arg516=)
c.1139G= (p.Arg380=)
c.623G= (p.Arg208=)
n.2333G=
n.2336G=
n.2280G=
9g.14842534C>GCA372960449FREM1c.1520G>C (p.Arg507Pro)
n.2306G>C
c.1547G>C (p.Arg516Pro)
c.1139G>C (p.Arg380Pro)
c.623G>C (p.Arg208Pro)
n.2333G>C
n.2336G>C
n.2280G>C
9g.14842534C>TCA4991209FREM1c.1520G>A (p.Arg507His)
n.2306G>A
c.1547G>A (p.Arg516His)
c.1139G>A (p.Arg380His)
c.623G>A (p.Arg208His)
n.2333G>A
n.2336G>A
n.2280G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842535G>ACA4991210FREM1c.1519C>T (p.Arg507Cys)
n.2305C>T
c.1546C>T (p.Arg516Cys)
c.1138C>T (p.Arg380Cys)
c.622C>T (p.Arg208Cys)
n.2332C>T
n.2335C>T
n.2279C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842535G>CCA372960450FREM1c.1519C>G (p.Arg507Gly)
n.2305C>G
c.1546C>G (p.Arg516Gly)
c.1138C>G (p.Arg380Gly)
c.622C>G (p.Arg208Gly)
n.2332C>G
n.2335C>G
n.2279C>G
9g.14842535G=CA1835222418FREM1c.1519C= (p.Arg507=)
n.2305C=
c.1546C= (p.Arg516=)
c.1138C= (p.Arg380=)
c.622C= (p.Arg208=)
n.2332C=
n.2335C=
n.2279C=
9g.14842535G>TCA372960451FREM1c.1519C>A (p.Arg507Ser)
n.2305C>A
c.1546C>A (p.Arg516Ser)
c.1138C>A (p.Arg380Ser)
c.622C>A (p.Arg208Ser)
n.2332C>A
n.2335C>A
n.2279C>A
 dbSNP gnomAD v4 COSMIC
9g.14842536G>ACA4991212FREM1c.1518C>T (p.Ile506=)
n.2304C>T
c.1545C>T (p.Ile515=)
c.1137C>T (p.Ile379=)
c.621C>T (p.Ile207=)
n.2331C>T
n.2334C>T
n.2278C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842536G>CCA372960452FREM1c.1518C>G (p.Ile506Met)
n.2304C>G
c.1545C>G (p.Ile515Met)
c.1137C>G (p.Ile379Met)
c.621C>G (p.Ile207Met)
n.2331C>G
n.2334C>G
n.2278C>G
9g.14842536G=CA1835222419FREM1c.1518C= (p.Ile506=)
n.2304C=
c.1545C= (p.Ile515=)
c.1137C= (p.Ile379=)
c.621C= (p.Ile207=)
n.2331C=
n.2334C=
n.2278C=
9g.14842536G>TCA4991211FREM1c.1518C>A (p.Ile506=)
n.2304C>A
c.1545C>A (p.Ile515=)
c.1137C>A (p.Ile379=)
c.621C>A (p.Ile207=)
n.2331C>A
n.2334C>A
n.2278C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842537A>CCA372960453FREM1c.1517T>G (p.Ile506Ser)
n.2303T>G
c.1544T>G (p.Ile515Ser)
c.1136T>G (p.Ile379Ser)
c.620T>G (p.Ile207Ser)
n.2330T>G
n.2333T>G
n.2277T>G
9g.14842537A>GCA372960454FREM1c.1517T>C (p.Ile506Thr)
n.2303T>C
c.1544T>C (p.Ile515Thr)
c.1136T>C (p.Ile379Thr)
c.620T>C (p.Ile207Thr)
n.2330T>C
n.2333T>C
n.2277T>C
9g.14842537A>TCA372960455FREM1c.1517T>A (p.Ile506Asn)
n.2303T>A
c.1544T>A (p.Ile515Asn)
c.1136T>A (p.Ile379Asn)
c.620T>A (p.Ile207Asn)
n.2330T>A
n.2333T>A
n.2277T>A
9g.14842538T>ACA372960456FREM1c.1516A>T (p.Ile506Phe)
n.2302A>T
c.1543A>T (p.Ile515Phe)
c.1135A>T (p.Ile379Phe)
c.619A>T (p.Ile207Phe)
n.2329A>T
n.2332A>T
n.2276A>T
9g.14842538T>CCA372960457FREM1c.1516A>G (p.Ile506Val)
n.2302A>G
c.1543A>G (p.Ile515Val)
c.1135A>G (p.Ile379Val)
c.619A>G (p.Ile207Val)
n.2329A>G
n.2332A>G
n.2276A>G
 gnomAD v4
9g.14842538T>GCA4991213FREM1c.1516A>C (p.Ile506Leu)
n.2302A>C
c.1543A>C (p.Ile515Leu)
c.1135A>C (p.Ile379Leu)
c.619A>C (p.Ile207Leu)
n.2329A>C
n.2332A>C
n.2276A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842538T=CA1835222420FREM1c.1516A= (p.Ile506=)
n.2302A=
c.1543A= (p.Ile515=)
c.1135A= (p.Ile379=)
c.619A= (p.Ile207=)
n.2329A=
n.2332A=
n.2276A=
9g.14842539G>ACA464024633FREM1c.1515C>T (p.Ser505=)
n.2301C>T
c.1542C>T (p.Ser514=)
c.1134C>T (p.Ser378=)
c.618C>T (p.Ser206=)
n.2328C>T
n.2331C>T
n.2275C>T
9g.14842539G>CCA372960458FREM1c.1515C>G (p.Ser505Arg)
n.2301C>G
c.1542C>G (p.Ser514Arg)
c.1134C>G (p.Ser378Arg)
c.618C>G (p.Ser206Arg)
n.2328C>G
n.2331C>G
n.2275C>G
9g.14842539G=CA1835222421FREM1c.1515C= (p.Ser505=)
n.2301C=
c.1542C= (p.Ser514=)
c.1134C= (p.Ser378=)
c.618C= (p.Ser206=)
n.2328C=
n.2331C=
n.2275C=
9g.14842539G>TCA372960459FREM1c.1515C>A (p.Ser505Arg)
n.2301C>A
c.1542C>A (p.Ser514Arg)
c.1134C>A (p.Ser378Arg)
c.618C>A (p.Ser206Arg)
n.2328C>A
n.2331C>A
n.2275C>A
 dbSNP gnomAD v2
9g.14842540C>ACA372960460FREM1c.1514G>T (p.Ser505Ile)
n.2300G>T
c.1541G>T (p.Ser514Ile)
c.1133G>T (p.Ser378Ile)
c.617G>T (p.Ser206Ile)
n.2327G>T
n.2330G>T
n.2274G>T
9g.14842540C=CA1835222422FREM1c.1514G= (p.Ser505=)
n.2300G=
c.1541G= (p.Ser514=)
c.1133G= (p.Ser378=)
c.617G= (p.Ser206=)
n.2327G=
n.2330G=
n.2274G=
9g.14842540C>GCA372960461FREM1c.1514G>C (p.Ser505Thr)
n.2300G>C
c.1541G>C (p.Ser514Thr)
c.1133G>C (p.Ser378Thr)
c.617G>C (p.Ser206Thr)
n.2327G>C
n.2330G>C
n.2274G>C
 dbSNP gnomAD v4
9g.14842540C>TCA372960462FREM1c.1514G>A (p.Ser505Asn)
n.2300G>A
c.1541G>A (p.Ser514Asn)
c.1133G>A (p.Ser378Asn)
c.617G>A (p.Ser206Asn)
n.2327G>A
n.2330G>A
n.2274G>A
9g.14842541T>ACA372960465FREM1c.1513A>T (p.Ser505Cys)
n.2299A>T
c.1540A>T (p.Ser514Cys)
c.1132A>T (p.Ser378Cys)
c.616A>T (p.Ser206Cys)
n.2326A>T
n.2329A>T
n.2273A>T
9g.14842541T>CCA372960463FREM1c.1513A>G (p.Ser505Gly)
n.2299A>G
c.1540A>G (p.Ser514Gly)
c.1132A>G (p.Ser378Gly)
c.616A>G (p.Ser206Gly)
n.2326A>G
n.2329A>G
n.2273A>G
9g.14842541T>GCA372960464FREM1c.1513A>C (p.Ser505Arg)
n.2299A>C
c.1540A>C (p.Ser514Arg)
c.1132A>C (p.Ser378Arg)
c.616A>C (p.Ser206Arg)
n.2326A>C
n.2329A>C
n.2273A>C
9g.14842542G>ACA4991214FREM1c.1512C>T (p.His504=)
n.2298C>T
c.1539C>T (p.His513=)
c.1131C>T (p.His377=)
c.615C>T (p.His205=)
n.2325C>T
n.2328C>T
n.2272C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842542G>CCA372960467FREM1c.1512C>G (p.His504Gln)
n.2298C>G
c.1539C>G (p.His513Gln)
c.1131C>G (p.His377Gln)
c.615C>G (p.His205Gln)
n.2325C>G
n.2328C>G
n.2272C>G
9g.14842542G=CA1835222423FREM1c.1512C= (p.His504=)
n.2298C=
c.1539C= (p.His513=)
c.1131C= (p.His377=)
c.615C= (p.His205=)
n.2325C=
n.2328C=
n.2272C=
9g.14842542G>TCA372960466FREM1c.1512C>A (p.His504Gln)
n.2298C>A
c.1539C>A (p.His513Gln)
c.1131C>A (p.His377Gln)
c.615C>A (p.His205Gln)
n.2325C>A
n.2328C>A
n.2272C>A
 gnomAD v4
9g.14842543T>ACA372960468FREM1c.1511A>T (p.His504Leu)
n.2297A>T
c.1538A>T (p.His513Leu)
c.1130A>T (p.His377Leu)
c.614A>T (p.His205Leu)
n.2324A>T
n.2327A>T
n.2271A>T
9g.14842543T>CCA372960469FREM1c.1511A>G (p.His504Arg)
n.2297A>G
c.1538A>G (p.His513Arg)
c.1130A>G (p.His377Arg)
c.614A>G (p.His205Arg)
n.2324A>G
n.2327A>G
n.2271A>G
9g.14842543T>GCA372960470FREM1c.1511A>C (p.His504Pro)
n.2297A>C
c.1538A>C (p.His513Pro)
c.1130A>C (p.His377Pro)
c.614A>C (p.His205Pro)
n.2324A>C
n.2327A>C
n.2271A>C
9g.14842544G>ACA372960471FREM1c.1510C>T (p.His504Tyr)
n.2296C>T
c.1537C>T (p.His513Tyr)
c.1129C>T (p.His377Tyr)
c.613C>T (p.His205Tyr)
n.2323C>T
n.2326C>T
n.2270C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842544G>CCA372960472FREM1c.1510C>G (p.His504Asp)
n.2296C>G
c.1537C>G (p.His513Asp)
c.1129C>G (p.His377Asp)
c.613C>G (p.His205Asp)
n.2323C>G
n.2326C>G
n.2270C>G
9g.14842544G=CA1835222424FREM1c.1510C= (p.His504=)
n.2296C=
c.1537C= (p.His513=)
c.1129C= (p.His377=)
c.613C= (p.His205=)
n.2323C=
n.2326C=
n.2270C=
9g.14842544G>TCA372960473FREM1c.1510C>A (p.His504Asn)
n.2296C>A
c.1537C>A (p.His513Asn)
c.1129C>A (p.His377Asn)
c.613C>A (p.His205Asn)
n.2323C>A
n.2326C>A
n.2270C>A
 dbSNP gnomAD v3 gnomAD v4
9g.14842545A>CCA372960474FREM1c.1509T>G (p.His503Gln)
n.2295T>G
c.1536T>G (p.His512Gln)
c.1128T>G (p.His376Gln)
c.612T>G (p.His204Gln)
n.2322T>G
n.2325T>G
n.2269T>G
9g.14842545A>GCA464024634FREM1c.1509T>C (p.His503=)
n.2295T>C
c.1536T>C (p.His512=)
c.1128T>C (p.His376=)
c.612T>C (p.His204=)
n.2322T>C
n.2325T>C
n.2269T>C
9g.14842545A>TCA372960475FREM1c.1509T>A (p.His503Gln)
n.2295T>A
c.1536T>A (p.His512Gln)
c.1128T>A (p.His376Gln)
c.612T>A (p.His204Gln)
n.2322T>A
n.2325T>A
n.2269T>A
9g.14842546T>ACA372960476FREM1c.1508A>T (p.His503Leu)
n.2294A>T
c.1535A>T (p.His512Leu)
c.1127A>T (p.His376Leu)
c.611A>T (p.His204Leu)
n.2321A>T
n.2324A>T
n.2268A>T
9g.14842546T>CCA4991215FREM1c.1508A>G (p.His503Arg)
n.2294A>G
c.1535A>G (p.His512Arg)
c.1127A>G (p.His376Arg)
c.611A>G (p.His204Arg)
n.2321A>G
n.2324A>G
n.2268A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842546T>GCA372960477FREM1c.1508A>C (p.His503Pro)
n.2294A>C
c.1535A>C (p.His512Pro)
c.1127A>C (p.His376Pro)
c.611A>C (p.His204Pro)
n.2321A>C
n.2324A>C
n.2268A>C
9g.14842546T=CA1835222425FREM1c.1508A= (p.His503=)
n.2294A=
c.1535A= (p.His512=)
c.1127A= (p.His376=)
c.611A= (p.His204=)
n.2321A=
n.2324A=
n.2268A=
9g.14842547G>ACA372960480FREM1c.1507C>T (p.His503Tyr)
n.2293C>T
c.1534C>T (p.His512Tyr)
c.1126C>T (p.His376Tyr)
c.610C>T (p.His204Tyr)
n.2320C>T
n.2323C>T
n.2267C>T
 dbSNP
9g.14842547G>CCA372960479FREM1c.1507C>G (p.His503Asp)
n.2293C>G
c.1534C>G (p.His512Asp)
c.1126C>G (p.His376Asp)
c.610C>G (p.His204Asp)
n.2320C>G
n.2323C>G
n.2267C>G
9g.14842547G=CA1835222426FREM1c.1507C= (p.His503=)
n.2293C=
c.1534C= (p.His512=)
c.1126C= (p.His376=)
c.610C= (p.His204=)
n.2320C=
n.2323C=
n.2267C=
9g.14842547G>TCA372960478FREM1c.1507C>A (p.His503Asn)
n.2293C>A
c.1534C>A (p.His512Asn)
c.1126C>A (p.His376Asn)
c.610C>A (p.His204Asn)
n.2320C>A
n.2323C>A
n.2267C>A
9g.14842548G>ACA464024635FREM1c.1506C>T (p.Gly502=)
n.2292C>T
c.1533C>T (p.Gly511=)
c.1125C>T (p.Gly375=)
c.609C>T (p.Gly203=)
n.2319C>T
n.2322C>T
n.2266C>T
9g.14842548G>CCA464024636FREM1c.1506C>G (p.Gly502=)
n.2292C>G
c.1533C>G (p.Gly511=)
c.1125C>G (p.Gly375=)
c.609C>G (p.Gly203=)
n.2319C>G
n.2322C>G
n.2266C>G
 dbSNP
9g.14842548G=CA1835222427FREM1c.1506C= (p.Gly502=)
n.2292C=
c.1533C= (p.Gly511=)
c.1125C= (p.Gly375=)
c.609C= (p.Gly203=)
n.2319C=
n.2322C=
n.2266C=
9g.14842548G>TCA464024637FREM1c.1506C>A (p.Gly502=)
n.2292C>A
c.1533C>A (p.Gly511=)
c.1125C>A (p.Gly375=)
c.609C>A (p.Gly203=)
n.2319C>A
n.2322C>A
n.2266C>A
9g.14842549C>ACA372960481FREM1c.1505G>T (p.Gly502Val)
n.2291G>T
c.1532G>T (p.Gly511Val)
c.1124G>T (p.Gly375Val)
c.608G>T (p.Gly203Val)
n.2318G>T
n.2321G>T
n.2265G>T
9g.14842549C>GCA372960482FREM1c.1505G>C (p.Gly502Ala)
n.2291G>C
c.1532G>C (p.Gly511Ala)
c.1124G>C (p.Gly375Ala)
c.608G>C (p.Gly203Ala)
n.2318G>C
n.2321G>C
n.2265G>C
9g.14842549C>TCA372960483FREM1c.1505G>A (p.Gly502Asp)
n.2291G>A
c.1532G>A (p.Gly511Asp)
c.1124G>A (p.Gly375Asp)
c.608G>A (p.Gly203Asp)
n.2318G>A
n.2321G>A
n.2265G>A
9g.14842550C>ACA372960484FREM1c.1504G>T (p.Gly502Cys)
n.2290G>T
c.1531G>T (p.Gly511Cys)
c.1123G>T (p.Gly375Cys)
c.607G>T (p.Gly203Cys)
n.2317G>T
n.2320G>T
n.2264G>T
9g.14842550C>GCA372960485FREM1c.1504G>C (p.Gly502Arg)
n.2290G>C
c.1531G>C (p.Gly511Arg)
c.1123G>C (p.Gly375Arg)
c.607G>C (p.Gly203Arg)
n.2317G>C
n.2320G>C
n.2264G>C
9g.14842550C>TCA372960486FREM1c.1504G>A (p.Gly502Ser)
n.2290G>A
c.1531G>A (p.Gly511Ser)
c.1123G>A (p.Gly375Ser)
c.607G>A (p.Gly203Ser)
n.2317G>A
n.2320G>A
n.2264G>A
9g.14842551A=CA1835222428FREM1c.1503T= (p.Asp501=)
n.2289T=
c.1530T= (p.Asp510=)
c.1122T= (p.Asp374=)
c.606T= (p.Asp202=)
n.2316T=
n.2319T=
n.2263T=
9g.14842551A>CCA372960487FREM1c.1503T>G (p.Asp501Glu)
n.2289T>G
c.1530T>G (p.Asp510Glu)
c.1122T>G (p.Asp374Glu)
c.606T>G (p.Asp202Glu)
n.2316T>G
n.2319T>G
n.2263T>G
9g.14842551A>GCA4991216FREM1c.1503T>C (p.Asp501=)
n.2289T>C
c.1530T>C (p.Asp510=)
c.1122T>C (p.Asp374=)
c.606T>C (p.Asp202=)
n.2316T>C
n.2319T>C
n.2263T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842551A>TCA372960488FREM1c.1503T>A (p.Asp501Glu)
n.2289T>A
c.1530T>A (p.Asp510Glu)
c.1122T>A (p.Asp374Glu)
c.606T>A (p.Asp202Glu)
n.2316T>A
n.2319T>A
n.2263T>A
9g.14842552T>ACA372960489FREM1c.1502A>T (p.Asp501Val)
n.2288A>T
c.1529A>T (p.Asp510Val)
c.1121A>T (p.Asp374Val)
c.605A>T (p.Asp202Val)
n.2315A>T
n.2318A>T
n.2262A>T
9g.14842552T>CCA372960490FREM1c.1502A>G (p.Asp501Gly)
n.2288A>G
c.1529A>G (p.Asp510Gly)
c.1121A>G (p.Asp374Gly)
c.605A>G (p.Asp202Gly)
n.2315A>G
n.2318A>G
n.2262A>G
 gnomAD v4
9g.14842552T>GCA372960491FREM1c.1502A>C (p.Asp501Ala)
n.2288A>C
c.1529A>C (p.Asp510Ala)
c.1121A>C (p.Asp374Ala)
c.605A>C (p.Asp202Ala)
n.2315A>C
n.2318A>C
n.2262A>C
 gnomAD v4
9g.14842553C>ACA372960493FREM1c.1501G>T (p.Asp501Tyr)
n.2287G>T
c.1528G>T (p.Asp510Tyr)
c.1120G>T (p.Asp374Tyr)
c.604G>T (p.Asp202Tyr)
n.2314G>T
n.2317G>T
n.2261G>T
9g.14842553C=CA1835222429FREM1c.1501G= (p.Asp501=)
n.2287G=
c.1528G= (p.Asp510=)
c.1120G= (p.Asp374=)
c.604G= (p.Asp202=)
n.2314G=
n.2317G=
n.2261G=
9g.14842553C>GCA372960492FREM1c.1501G>C (p.Asp501His)
n.2287G>C
c.1528G>C (p.Asp510His)
c.1120G>C (p.Asp374His)
c.604G>C (p.Asp202His)
n.2314G>C
n.2317G>C
n.2261G>C
9g.14842553C>TCA4991217FREM1c.1501G>A (p.Asp501Asn)
n.2287G>A
c.1528G>A (p.Asp510Asn)
c.1120G>A (p.Asp374Asn)
c.604G>A (p.Asp202Asn)
n.2314G>A
n.2317G>A
n.2261G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842554A>CCA372960495FREM1c.1500T>G (p.Phe500Leu)
n.2286T>G
c.1527T>G (p.Phe509Leu)
c.1119T>G (p.Phe373Leu)
c.603T>G (p.Phe201Leu)
n.2313T>G
n.2316T>G
n.2260T>G
9g.14842554A>GCA464024638FREM1c.1500T>C (p.Phe500=)
n.2286T>C
c.1527T>C (p.Phe509=)
c.1119T>C (p.Phe373=)
c.603T>C (p.Phe201=)
n.2313T>C
n.2316T>C
n.2260T>C
9g.14842554A>TCA372960494FREM1c.1500T>A (p.Phe500Leu)
n.2286T>A
c.1527T>A (p.Phe509Leu)
c.1119T>A (p.Phe373Leu)
c.603T>A (p.Phe201Leu)
n.2313T>A
n.2316T>A
n.2260T>A
9g.14842555A>CCA372960496FREM1c.1499T>G (p.Phe500Cys)
n.2285T>G
c.1526T>G (p.Phe509Cys)
c.1118T>G (p.Phe373Cys)
c.602T>G (p.Phe201Cys)
n.2312T>G
n.2315T>G
n.2259T>G
9g.14842555A>GCA372960497FREM1c.1499T>C (p.Phe500Ser)
n.2285T>C
c.1526T>C (p.Phe509Ser)
c.1118T>C (p.Phe373Ser)
c.602T>C (p.Phe201Ser)
n.2312T>C
n.2315T>C
n.2259T>C
9g.14842555A>TCA372960498FREM1c.1499T>A (p.Phe500Tyr)
n.2285T>A
c.1526T>A (p.Phe509Tyr)
c.1118T>A (p.Phe373Tyr)
c.602T>A (p.Phe201Tyr)
n.2312T>A
n.2315T>A
n.2259T>A
9g.14842556A>CCA372960499FREM1c.1498T>G (p.Phe500Val)
n.2284T>G
c.1525T>G (p.Phe509Val)
c.1117T>G (p.Phe373Val)
c.601T>G (p.Phe201Val)
n.2311T>G
n.2314T>G
n.2258T>G
9g.14842556A>GCA372960500FREM1c.1498T>C (p.Phe500Leu)
n.2284T>C
c.1525T>C (p.Phe509Leu)
c.1117T>C (p.Phe373Leu)
c.601T>C (p.Phe201Leu)
n.2311T>C
n.2314T>C
n.2258T>C
 gnomAD v4
9g.14842556A>TCA372960501FREM1c.1498T>A (p.Phe500Ile)
n.2284T>A
c.1525T>A (p.Phe509Ile)
c.1117T>A (p.Phe373Ile)
c.601T>A (p.Phe201Ile)
n.2311T>A
n.2314T>A
n.2258T>A
9g.14842557T>ACA464024639FREM1c.1497A>T (p.Ile499=)
n.2283A>T
c.1524A>T (p.Ile508=)
c.1116A>T (p.Ile372=)
c.600A>T (p.Ile200=)
n.2310A>T
n.2313A>T
n.2257A>T
9g.14842557T>CCA372960502FREM1c.1497A>G (p.Ile499Met)
n.2283A>G
c.1524A>G (p.Ile508Met)
c.1116A>G (p.Ile372Met)
c.600A>G (p.Ile200Met)
n.2310A>G
n.2313A>G
n.2257A>G
 gnomAD v4
9g.14842557T>GCA464024640FREM1c.1497A>C (p.Ile499=)
n.2283A>C
c.1524A>C (p.Ile508=)
c.1116A>C (p.Ile372=)
c.600A>C (p.Ile200=)
n.2310A>C
n.2313A>C
n.2257A>C
9g.14842558A>CCA372960503FREM1c.1496T>G (p.Ile499Arg)
n.2282T>G
c.1523T>G (p.Ile508Arg)
c.1115T>G (p.Ile372Arg)
c.599T>G (p.Ile200Arg)
n.2309T>G
n.2312T>G
n.2256T>G
9g.14842558A>GCA372960504FREM1c.1496T>C (p.Ile499Thr)
n.2282T>C
c.1523T>C (p.Ile508Thr)
c.1115T>C (p.Ile372Thr)
c.599T>C (p.Ile200Thr)
n.2309T>C
n.2312T>C
n.2256T>C
9g.14842558A>TCA372960505FREM1c.1496T>A (p.Ile499Lys)
n.2282T>A
c.1523T>A (p.Ile508Lys)
c.1115T>A (p.Ile372Lys)
c.599T>A (p.Ile200Lys)
n.2309T>A
n.2312T>A
n.2256T>A
9g.14842559T>ACA372960506FREM1c.1495A>T (p.Ile499Leu)
n.2281A>T
c.1522A>T (p.Ile508Leu)
c.1114A>T (p.Ile372Leu)
c.598A>T (p.Ile200Leu)
n.2308A>T
n.2311A>T
n.2255A>T
 gnomAD v4
9g.14842559T>CCA4991218FREM1c.1495A>G (p.Ile499Val)
n.2281A>G
c.1522A>G (p.Ile508Val)
c.1114A>G (p.Ile372Val)
c.598A>G (p.Ile200Val)
n.2308A>G
n.2311A>G
n.2255A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842559T>GCA372960507FREM1c.1495A>C (p.Ile499Leu)
n.2281A>C
c.1522A>C (p.Ile508Leu)
c.1114A>C (p.Ile372Leu)
c.598A>C (p.Ile200Leu)
n.2308A>C
n.2311A>C
n.2255A>C
9g.14842559T=CA1630847804FREM1c.1495A= (p.Ile499=)
n.2281A=
c.1522A= (p.Ile508=)
c.1114A= (p.Ile372=)
c.598A= (p.Ile200=)
n.2308A=
n.2311A=
n.2255A=
9g.14842560C>ACA464024641FREM1c.1494G>T (p.Arg498=)
n.2280G>T
c.1521G>T (p.Arg507=)
c.1113G>T (p.Arg371=)
c.597G>T (p.Arg199=)
n.2307G>T
n.2310G>T
n.2254G>T
9g.14842560C=CA1835222430FREM1c.1494G= (p.Arg498=)
n.2280G=
c.1521G= (p.Arg507=)
c.1113G= (p.Arg371=)
c.597G= (p.Arg199=)
n.2307G=
n.2310G=
n.2254G=
9g.14842560C>GCA464024642FREM1c.1494G>C (p.Arg498=)
n.2280G>C
c.1521G>C (p.Arg507=)
c.1113G>C (p.Arg371=)
c.597G>C (p.Arg199=)
n.2307G>C
n.2310G>C
n.2254G>C
9g.14842560C>TCA464024643FREM1c.1494G>A (p.Arg498=)
n.2280G>A
c.1521G>A (p.Arg507=)
c.1113G>A (p.Arg371=)
c.597G>A (p.Arg199=)
n.2307G>A
n.2310G>A
n.2254G>A
 dbSNP gnomAD v2 gnomAD v4
9g.14842561C>ACA372960508FREM1c.1493G>T (p.Arg498Leu)
n.2279G>T
c.1520G>T (p.Arg507Leu)
c.1112G>T (p.Arg371Leu)
c.596G>T (p.Arg199Leu)
n.2306G>T
n.2309G>T
n.2253G>T
9g.14842561C=CA1835222431FREM1c.1493G= (p.Arg498=)
n.2279G=
c.1520G= (p.Arg507=)
c.1112G= (p.Arg371=)
c.596G= (p.Arg199=)
n.2306G=
n.2309G=
n.2253G=
9g.14842561C>GCA4991219FREM1c.1493G>C (p.Arg498Pro)
n.2279G>C
c.1520G>C (p.Arg507Pro)
c.1112G>C (p.Arg371Pro)
c.596G>C (p.Arg199Pro)
n.2306G>C
n.2309G>C
n.2253G>C
 dbSNP ExAC gnomAD v2
9g.14842561C>TCA129451FREM1c.1493G>A (p.Arg498Gln)
n.2279G>A
c.1520G>A (p.Arg507Gln)
c.1112G>A (p.Arg371Gln)
c.596G>A (p.Arg199Gln)
n.2306G>A
n.2309G>A
n.2253G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842562G>ACA4991220FREM1c.1492C>T (p.Arg498Trp)
n.2278C>T
c.1519C>T (p.Arg507Trp)
c.1111C>T (p.Arg371Trp)
c.595C>T (p.Arg199Trp)
n.2305C>T
n.2308C>T
n.2252C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842562G>CCA4991221FREM1c.1492C>G (p.Arg498Gly)
n.2278C>G
c.1519C>G (p.Arg507Gly)
c.1111C>G (p.Arg371Gly)
c.595C>G (p.Arg199Gly)
n.2305C>G
n.2308C>G
n.2252C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842562G=CA1835222432FREM1c.1492C= (p.Arg498=)
n.2278C=
c.1519C= (p.Arg507=)
c.1111C= (p.Arg371=)
c.595C= (p.Arg199=)
n.2305C=
n.2308C=
n.2252C=
9g.14842562G>TCA464024644FREM1c.1492C>A (p.Arg498=)
n.2278C>A
c.1519C>A (p.Arg507=)
c.1111C>A (p.Arg371=)
c.595C>A (p.Arg199=)
n.2305C>A
n.2308C>A
n.2252C>A
 dbSNP
9g.14842563G>ACA4991222FREM1c.1491C>T (p.Phe497=)
n.2277C>T
c.1518C>T (p.Phe506=)
c.1110C>T (p.Phe370=)
c.594C>T (p.Phe198=)
n.2304C>T
n.2307C>T
n.2251C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842563G>CCA372960509FREM1c.1491C>G (p.Phe497Leu)
n.2277C>G
c.1518C>G (p.Phe506Leu)
c.1110C>G (p.Phe370Leu)
c.594C>G (p.Phe198Leu)
n.2304C>G
n.2307C>G
n.2251C>G
9g.14842563G=CA1835222433FREM1c.1491C= (p.Phe497=)
n.2277C=
c.1518C= (p.Phe506=)
c.1110C= (p.Phe370=)
c.594C= (p.Phe198=)
n.2304C=
n.2307C=
n.2251C=
9g.14842563G>TCA372960510FREM1c.1491C>A (p.Phe497Leu)
n.2277C>A
c.1518C>A (p.Phe506Leu)
c.1110C>A (p.Phe370Leu)
c.594C>A (p.Phe198Leu)
n.2304C>A
n.2307C>A
n.2251C>A
9g.14842564A>CCA372960511FREM1c.1490T>G (p.Phe497Cys)
n.2276T>G
c.1517T>G (p.Phe506Cys)
c.1109T>G (p.Phe370Cys)
c.593T>G (p.Phe198Cys)
n.2303T>G
n.2306T>G
n.2250T>G
9g.14842564A>GCA372960512FREM1c.1490T>C (p.Phe497Ser)
n.2276T>C
c.1517T>C (p.Phe506Ser)
c.1109T>C (p.Phe370Ser)
c.593T>C (p.Phe198Ser)
n.2303T>C
n.2306T>C
n.2250T>C
9g.14842564A>TCA372960513FREM1c.1490T>A (p.Phe497Tyr)
n.2276T>A
c.1517T>A (p.Phe506Tyr)
c.1109T>A (p.Phe370Tyr)
c.593T>A (p.Phe198Tyr)
n.2303T>A
n.2306T>A
n.2250T>A
9g.14842565A>CCA372960514FREM1c.1489T>G (p.Phe497Val)
n.2275T>G
c.1516T>G (p.Phe506Val)
c.1108T>G (p.Phe370Val)
c.592T>G (p.Phe198Val)
n.2302T>G
n.2305T>G
n.2249T>G
9g.14842565A>GCA372960515FREM1c.1489T>C (p.Phe497Leu)
n.2275T>C
c.1516T>C (p.Phe506Leu)
c.1108T>C (p.Phe370Leu)
c.592T>C (p.Phe198Leu)
n.2302T>C
n.2305T>C
n.2249T>C
9g.14842565A>TCA372960516FREM1c.1489T>A (p.Phe497Ile)
n.2275T>A
c.1516T>A (p.Phe506Ile)
c.1108T>A (p.Phe370Ile)
c.592T>A (p.Phe198Ile)
n.2302T>A
n.2305T>A
n.2249T>A
9g.14842566G>ACA464024645FREM1c.1488C>T (p.Val496=)
n.2274C>T
c.1515C>T (p.Val505=)
c.1107C>T (p.Val369=)
c.591C>T (p.Val197=)
n.2301C>T
n.2304C>T
n.2248C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842566G>CCA464024647FREM1c.1488C>G (p.Val496=)
n.2274C>G
c.1515C>G (p.Val505=)
c.1107C>G (p.Val369=)
c.591C>G (p.Val197=)
n.2301C>G
n.2304C>G
n.2248C>G
9g.14842566G=CA1835222434FREM1c.1488C= (p.Val496=)
n.2274C=
c.1515C= (p.Val505=)
c.1107C= (p.Val369=)
c.591C= (p.Val197=)
n.2301C=
n.2304C=
n.2248C=
9g.14842566G>TCA464024646FREM1c.1488C>A (p.Val496=)
n.2274C>A
c.1515C>A (p.Val505=)
c.1107C>A (p.Val369=)
c.591C>A (p.Val197=)
n.2301C>A
n.2304C>A
n.2248C>A
 dbSNP
9g.14842567A=CA1835222435FREM1c.1487T= (p.Val496=)
n.2273T=
c.1514T= (p.Val505=)
c.1106T= (p.Val369=)
c.590T= (p.Val197=)
n.2300T=
n.2303T=
n.2247T=
9g.14842567A>CCA372960518FREM1c.1487T>G (p.Val496Gly)
n.2273T>G
c.1514T>G (p.Val505Gly)
c.1106T>G (p.Val369Gly)
c.590T>G (p.Val197Gly)
n.2300T>G
n.2303T>G
n.2247T>G
 gnomAD v4
9g.14842567A>GCA4991223FREM1c.1487T>C (p.Val496Ala)
n.2273T>C
c.1514T>C (p.Val505Ala)
c.1106T>C (p.Val369Ala)
c.590T>C (p.Val197Ala)
n.2300T>C
n.2303T>C
n.2247T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842567A>TCA372960517FREM1c.1487T>A (p.Val496Asp)
n.2273T>A
c.1514T>A (p.Val505Asp)
c.1106T>A (p.Val369Asp)
c.590T>A (p.Val197Asp)
n.2300T>A
n.2303T>A
n.2247T>A
9g.14842568C>ACA372960519FREM1c.1486G>T (p.Val496Phe)
n.2272G>T
c.1513G>T (p.Val505Phe)
c.1105G>T (p.Val369Phe)
c.589G>T (p.Val197Phe)
n.2299G>T
n.2302G>T
n.2246G>T
9g.14842568C>GCA372960521FREM1c.1486G>C (p.Val496Leu)
n.2272G>C
c.1513G>C (p.Val505Leu)
c.1105G>C (p.Val369Leu)
c.589G>C (p.Val197Leu)
n.2299G>C
n.2302G>C
n.2246G>C
9g.14842568C>TCA372960520FREM1c.1486G>A (p.Val496Ile)
n.2272G>A
c.1513G>A (p.Val505Ile)
c.1105G>A (p.Val369Ile)
c.589G>A (p.Val197Ile)
n.2299G>A
n.2302G>A
n.2246G>A
9g.14842569C>ACA464024648FREM1c.1485G>T (p.Val495=)
n.2271G>T
c.1512G>T (p.Val504=)
c.1104G>T (p.Val368=)
c.588G>T (p.Val196=)
n.2298G>T
n.2301G>T
n.2245G>T
9g.14842569C>GCA464024649FREM1c.1485G>C (p.Val495=)
n.2271G>C
c.1512G>C (p.Val504=)
c.1104G>C (p.Val368=)
c.588G>C (p.Val196=)
n.2298G>C
n.2301G>C
n.2245G>C
9g.14842569C>TCA464024650FREM1c.1485G>A (p.Val495=)
n.2271G>A
c.1512G>A (p.Val504=)
c.1104G>A (p.Val368=)
c.588G>A (p.Val196=)
n.2298G>A
n.2301G>A
n.2245G>A
9g.14842570A>CCA372960522FREM1c.1484T>G (p.Val495Gly)
n.2270T>G
c.1511T>G (p.Val504Gly)
c.1103T>G (p.Val368Gly)
c.587T>G (p.Val196Gly)
n.2297T>G
n.2300T>G
n.2244T>G
9g.14842570A>GCA372960523FREM1c.1484T>C (p.Val495Ala)
n.2270T>C
c.1511T>C (p.Val504Ala)
c.1103T>C (p.Val368Ala)
c.587T>C (p.Val196Ala)
n.2297T>C
n.2300T>C
n.2244T>C
9g.14842570A>TCA372960524FREM1c.1484T>A (p.Val495Glu)
n.2270T>A
c.1511T>A (p.Val504Glu)
c.1103T>A (p.Val368Glu)
c.587T>A (p.Val196Glu)
n.2297T>A
n.2300T>A
n.2244T>A
9g.14842571C>ACA372960525FREM1c.1483G>T (p.Val495Leu)
n.2269G>T
c.1510G>T (p.Val504Leu)
c.1102G>T (p.Val368Leu)
c.586G>T (p.Val196Leu)
n.2296G>T
n.2299G>T
n.2243G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842571C=CA1835222436FREM1c.1483G= (p.Val495=)
n.2269G=
c.1510G= (p.Val504=)
c.1102G= (p.Val368=)
c.586G= (p.Val196=)
n.2296G=
n.2299G=
n.2243G=
9g.14842571C>GCA372960526FREM1c.1483G>C (p.Val495Leu)
n.2269G>C
c.1510G>C (p.Val504Leu)
c.1102G>C (p.Val368Leu)
c.586G>C (p.Val196Leu)
n.2296G>C
n.2299G>C
n.2243G>C
 COSMIC
9g.14842571C>TCA4991224FREM1c.1483G>A (p.Val495Met)
n.2269G>A
c.1510G>A (p.Val504Met)
c.1102G>A (p.Val368Met)
c.586G>A (p.Val196Met)
n.2296G>A
n.2299G>A
n.2243G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842572G>ACA4991225FREM1c.1482C>T (p.Phe494=)
n.2268C>T
c.1509C>T (p.Phe503=)
c.1101C>T (p.Phe367=)
c.585C>T (p.Phe195=)
n.2295C>T
n.2298C>T
n.2242C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842572G>CCA372960527FREM1c.1482C>G (p.Phe494Leu)
n.2268C>G
c.1509C>G (p.Phe503Leu)
c.1101C>G (p.Phe367Leu)
c.585C>G (p.Phe195Leu)
n.2295C>G
n.2298C>G
n.2242C>G
9g.14842572G=CA1835222437FREM1c.1482C= (p.Phe494=)
n.2268C=
c.1509C= (p.Phe503=)
c.1101C= (p.Phe367=)
c.585C= (p.Phe195=)
n.2295C=
n.2298C=
n.2242C=
9g.14842572G>TCA372960528FREM1c.1482C>A (p.Phe494Leu)
n.2268C>A
c.1509C>A (p.Phe503Leu)
c.1101C>A (p.Phe367Leu)
c.585C>A (p.Phe195Leu)
n.2295C>A
n.2298C>A
n.2242C>A
9g.14842573A>CCA372960529FREM1c.1481T>G (p.Phe494Cys)
n.2267T>G
c.1508T>G (p.Phe503Cys)
c.1100T>G (p.Phe367Cys)
c.584T>G (p.Phe195Cys)
n.2294T>G
n.2297T>G
n.2241T>G
9g.14842573A>GCA372960530FREM1c.1481T>C (p.Phe494Ser)
n.2267T>C
c.1508T>C (p.Phe503Ser)
c.1100T>C (p.Phe367Ser)
c.584T>C (p.Phe195Ser)
n.2294T>C
n.2297T>C
n.2241T>C
9g.14842573A>TCA372960531FREM1c.1481T>A (p.Phe494Tyr)
n.2267T>A
c.1508T>A (p.Phe503Tyr)
c.1100T>A (p.Phe367Tyr)
c.584T>A (p.Phe195Tyr)
n.2294T>A
n.2297T>A
n.2241T>A
9g.14842574A>CCA372960534FREM1c.1480T>G (p.Phe494Val)
n.2266T>G
c.1507T>G (p.Phe503Val)
c.1099T>G (p.Phe367Val)
c.583T>G (p.Phe195Val)
n.2293T>G
n.2296T>G
n.2240T>G
9g.14842574A>GCA372960533FREM1c.1480T>C (p.Phe494Leu)
n.2266T>C
c.1507T>C (p.Phe503Leu)
c.1099T>C (p.Phe367Leu)
c.583T>C (p.Phe195Leu)
n.2293T>C
n.2296T>C
n.2240T>C
9g.14842574A>TCA372960532FREM1c.1480T>A (p.Phe494Ile)
n.2266T>A
c.1507T>A (p.Phe503Ile)
c.1099T>A (p.Phe367Ile)
c.583T>A (p.Phe195Ile)
n.2293T>A
n.2296T>A
n.2240T>A
9g.14842575G>ACA464024651FREM1c.1479C>T (p.Asp493=)
n.2265C>T
c.1506C>T (p.Asp502=)
c.1098C>T (p.Asp366=)
c.582C>T (p.Asp194=)
n.2292C>T
n.2295C>T
n.2239C>T
 gnomAD v4
9g.14842575G>CCA372960535FREM1c.1479C>G (p.Asp493Glu)
n.2265C>G
c.1506C>G (p.Asp502Glu)
c.1098C>G (p.Asp366Glu)
c.582C>G (p.Asp194Glu)
n.2292C>G
n.2295C>G
n.2239C>G
 gnomAD v4
9g.14842575G>TCA372960536FREM1c.1479C>A (p.Asp493Glu)
n.2265C>A
c.1506C>A (p.Asp502Glu)
c.1098C>A (p.Asp366Glu)
c.582C>A (p.Asp194Glu)
n.2292C>A
n.2295C>A
n.2239C>A
9g.14842576T>ACA372960537FREM1c.1478A>T (p.Asp493Val)
n.2264A>T
c.1505A>T (p.Asp502Val)
c.1097A>T (p.Asp366Val)
c.581A>T (p.Asp194Val)
n.2291A>T
n.2294A>T
n.2238A>T
9g.14842576T>CCA372960538FREM1c.1478A>G (p.Asp493Gly)
n.2264A>G
c.1505A>G (p.Asp502Gly)
c.1097A>G (p.Asp366Gly)
c.581A>G (p.Asp194Gly)
n.2291A>G
n.2294A>G
n.2238A>G
9g.14842576T>GCA372960539FREM1c.1478A>C (p.Asp493Ala)
n.2264A>C
c.1505A>C (p.Asp502Ala)
c.1097A>C (p.Asp366Ala)
c.581A>C (p.Asp194Ala)
n.2291A>C
n.2294A>C
n.2238A>C
9g.14842577C>ACA372960540FREM1c.1477G>T (p.Asp493Tyr)
n.2263G>T
c.1504G>T (p.Asp502Tyr)
c.1096G>T (p.Asp366Tyr)
c.580G>T (p.Asp194Tyr)
n.2290G>T
n.2293G>T
n.2237G>T
9g.14842577C>GCA372960541FREM1c.1477G>C (p.Asp493His)
n.2263G>C
c.1504G>C (p.Asp502His)
c.1096G>C (p.Asp366His)
c.580G>C (p.Asp194His)
n.2290G>C
n.2293G>C
n.2237G>C
9g.14842577C>TCA372960542FREM1c.1477G>A (p.Asp493Asn)
n.2263G>A
c.1504G>A (p.Asp502Asn)
c.1096G>A (p.Asp366Asn)
c.580G>A (p.Asp194Asn)
n.2290G>A
n.2293G>A
n.2237G>A
 COSMIC
9g.14842578T>ACA372960543FREM1c.1476A>T (p.Lys492Asn)
n.2262A>T
c.1503A>T (p.Lys501Asn)
c.1095A>T (p.Lys365Asn)
c.579A>T (p.Lys193Asn)
n.2289A>T
n.2292A>T
n.2236A>T
9g.14842578T>CCA464024652FREM1c.1476A>G (p.Lys492=)
n.2262A>G
c.1503A>G (p.Lys501=)
c.1095A>G (p.Lys365=)
c.579A>G (p.Lys193=)
n.2289A>G
n.2292A>G
n.2236A>G
9g.14842578T>GCA372960544FREM1c.1476A>C (p.Lys492Asn)
n.2262A>C
c.1503A>C (p.Lys501Asn)
c.1095A>C (p.Lys365Asn)
c.579A>C (p.Lys193Asn)
n.2289A>C
n.2292A>C
n.2236A>C
9g.14842579_14842580delCA2689439141FREM1c.1475_1476del (p.Lys492ArgfsTer9)
n.2261_2262del
c.1502_1503del (p.Lys501ArgfsTer9)
c.1094_1095del (p.Lys365ArgfsTer9)
c.578_579del (p.Lys193ArgfsTer9)
n.2288_2289del
n.2291_2292del
n.2235_2236del
 gnomAD v4
9g.14842579T>ACA372960545FREM1c.1475A>T (p.Lys492Ile)
n.2261A>T
c.1502A>T (p.Lys501Ile)
c.1094A>T (p.Lys365Ile)
c.578A>T (p.Lys193Ile)
n.2288A>T
n.2291A>T
n.2235A>T
9g.14842579T>CCA372960546FREM1c.1475A>G (p.Lys492Arg)
n.2261A>G
c.1502A>G (p.Lys501Arg)
c.1094A>G (p.Lys365Arg)
c.578A>G (p.Lys193Arg)
n.2288A>G
n.2291A>G
n.2235A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842579T>GCA372960547FREM1c.1475A>C (p.Lys492Thr)
n.2261A>C
c.1502A>C (p.Lys501Thr)
c.1094A>C (p.Lys365Thr)
c.578A>C (p.Lys193Thr)
n.2288A>C
n.2291A>C
n.2235A>C
9g.14842579T=CA1835222438FREM1c.1475A= (p.Lys492=)
n.2261A=
c.1502A= (p.Lys501=)
c.1094A= (p.Lys365=)
c.578A= (p.Lys193=)
n.2288A=
n.2291A=
n.2235A=
9g.14842580T>ACA372960549FREM1c.1474A>T (p.Lys492Ter)
n.2260A>T
c.1501A>T (p.Lys501Ter)
c.1093A>T (p.Lys365Ter)
c.577A>T (p.Lys193Ter)
n.2287A>T
n.2290A>T
n.2234A>T
9g.14842580T>CCA4991226FREM1c.1474A>G (p.Lys492Glu)
n.2260A>G
c.1501A>G (p.Lys501Glu)
c.1093A>G (p.Lys365Glu)
c.577A>G (p.Lys193Glu)
n.2287A>G
n.2290A>G
n.2234A>G
 dbSNP ExAC gnomAD v2
9g.14842580T>GCA372960548FREM1c.1474A>C (p.Lys492Gln)
n.2260A>C
c.1501A>C (p.Lys501Gln)
c.1093A>C (p.Lys365Gln)
c.577A>C (p.Lys193Gln)
n.2287A>C
n.2290A>C
n.2234A>C
9g.14842580T=CA1835222439FREM1c.1474A= (p.Lys492=)
n.2260A=
c.1501A= (p.Lys501=)
c.1093A= (p.Lys365=)
c.577A= (p.Lys193=)
n.2287A=
n.2290A=
n.2234A=
9g.14842581G>ACA464024653FREM1c.1473C>T (p.Thr491=)
n.2259C>T
c.1500C>T (p.Thr500=)
c.1092C>T (p.Thr364=)
c.576C>T (p.Thr192=)
n.2286C>T
n.2289C>T
n.2233C>T
9g.14842581G>CCA464024654FREM1c.1473C>G (p.Thr491=)
n.2259C>G
c.1500C>G (p.Thr500=)
c.1092C>G (p.Thr364=)
c.576C>G (p.Thr192=)
n.2286C>G
n.2289C>G
n.2233C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842581G=CA1835222440FREM1c.1473C= (p.Thr491=)
n.2259C=
c.1500C= (p.Thr500=)
c.1092C= (p.Thr364=)
c.576C= (p.Thr192=)
n.2286C=
n.2289C=
n.2233C=
9g.14842581G>TCA464024655FREM1c.1473C>A (p.Thr491=)
n.2259C>A
c.1500C>A (p.Thr500=)
c.1092C>A (p.Thr364=)
c.576C>A (p.Thr192=)
n.2286C>A
n.2289C>A
n.2233C>A
9g.14842582G>ACA372960550FREM1c.1472C>T (p.Thr491Ile)
n.2258C>T
c.1499C>T (p.Thr500Ile)
c.1091C>T (p.Thr364Ile)
c.575C>T (p.Thr192Ile)
n.2285C>T
n.2288C>T
n.2232C>T
9g.14842582G>CCA372960551FREM1c.1472C>G (p.Thr491Ser)
n.2258C>G
c.1499C>G (p.Thr500Ser)
c.1091C>G (p.Thr364Ser)
c.575C>G (p.Thr192Ser)
n.2285C>G
n.2288C>G
n.2232C>G
9g.14842582G>TCA372960552FREM1c.1472C>A (p.Thr491Asn)
n.2258C>A
c.1499C>A (p.Thr500Asn)
c.1091C>A (p.Thr364Asn)
c.575C>A (p.Thr192Asn)
n.2285C>A
n.2288C>A
n.2232C>A
9g.14842583T>ACA372960553FREM1c.1471A>T (p.Thr491Ser)
n.2257A>T
c.1498A>T (p.Thr500Ser)
c.1090A>T (p.Thr364Ser)
c.574A>T (p.Thr192Ser)
n.2284A>T
n.2287A>T
n.2231A>T
9g.14842583T>CCA372960554FREM1c.1471A>G (p.Thr491Ala)
n.2257A>G
c.1498A>G (p.Thr500Ala)
c.1090A>G (p.Thr364Ala)
c.574A>G (p.Thr192Ala)
n.2284A>G
n.2287A>G
n.2231A>G
9g.14842583T>GCA372960555FREM1c.1471A>C (p.Thr491Pro)
n.2257A>C
c.1498A>C (p.Thr500Pro)
c.1090A>C (p.Thr364Pro)
c.574A>C (p.Thr192Pro)
n.2284A>C
n.2287A>C
n.2231A>C
9g.14842584G>ACA464024656FREM1c.1470C>T (p.Ser490=)
n.2256C>T
c.1497C>T (p.Ser499=)
c.1089C>T (p.Ser363=)
c.573C>T (p.Ser191=)
n.2283C>T
n.2286C>T
n.2230C>T
9g.14842584G>CCA464024657FREM1c.1470C>G (p.Ser490=)
n.2256C>G
c.1497C>G (p.Ser499=)
c.1089C>G (p.Ser363=)
c.573C>G (p.Ser191=)
n.2283C>G
n.2286C>G
n.2230C>G
9g.14842584G>TCA464024658FREM1c.1470C>A (p.Ser490=)
n.2256C>A
c.1497C>A (p.Ser499=)
c.1089C>A (p.Ser363=)
c.573C>A (p.Ser191=)
n.2283C>A
n.2286C>A
n.2230C>A
9g.14842585G>ACA189364279FREM1c.1469C>T (p.Ser490Phe)
n.2255C>T
c.1496C>T (p.Ser499Phe)
c.1088C>T (p.Ser363Phe)
c.572C>T (p.Ser191Phe)
n.2282C>T
n.2285C>T
n.2229C>T
 dbSNP gnomAD v2 gnomAD v4
9g.14842585G>CCA372960556FREM1c.1469C>G (p.Ser490Cys)
n.2255C>G
c.1496C>G (p.Ser499Cys)
c.1088C>G (p.Ser363Cys)
c.572C>G (p.Ser191Cys)
n.2282C>G
n.2285C>G
n.2229C>G
 dbSNP gnomAD v4
9g.14842585G=CA1835222441FREM1c.1469C= (p.Ser490=)
n.2255C=
c.1496C= (p.Ser499=)
c.1088C= (p.Ser363=)
c.572C= (p.Ser191=)
n.2282C=
n.2285C=
n.2229C=
9g.14842585G>TCA372960557FREM1c.1469C>A (p.Ser490Tyr)
n.2255C>A
c.1496C>A (p.Ser499Tyr)
c.1088C>A (p.Ser363Tyr)
c.572C>A (p.Ser191Tyr)
n.2282C>A
n.2285C>A
n.2229C>A
9g.14842586A>CCA372960558FREM1c.1468T>G (p.Ser490Ala)
n.2254T>G
c.1495T>G (p.Ser499Ala)
c.1087T>G (p.Ser363Ala)
c.571T>G (p.Ser191Ala)
n.2281T>G
n.2284T>G
n.2228T>G
9g.14842586A>GCA372960559FREM1c.1468T>C (p.Ser490Pro)
n.2254T>C
c.1495T>C (p.Ser499Pro)
c.1087T>C (p.Ser363Pro)
c.571T>C (p.Ser191Pro)
n.2281T>C
n.2284T>C
n.2228T>C
9g.14842586A>TCA372960560FREM1c.1468T>A (p.Ser490Thr)
n.2254T>A
c.1495T>A (p.Ser499Thr)
c.1087T>A (p.Ser363Thr)
c.571T>A (p.Ser191Thr)
n.2281T>A
n.2284T>A
n.2228T>A

Number of alleles fetched