Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
9g.14842415C>ACA372960196FREM1c.1639G>T (p.Ala547Ser)
n.2425G>T
c.1666G>T (p.Ala556Ser)
c.1258G>T (p.Ala420Ser)
c.742G>T (p.Ala248Ser)
n.2452G>T
n.2455G>T
n.2399G>T
9g.14842415C>GCA372960197FREM1c.1639G>C (p.Ala547Pro)
n.2425G>C
c.1666G>C (p.Ala556Pro)
c.1258G>C (p.Ala420Pro)
c.742G>C (p.Ala248Pro)
n.2452G>C
n.2455G>C
n.2399G>C
9g.14842415C>TCA372960198FREM1c.1639G>A (p.Ala547Thr)
n.2425G>A
c.1666G>A (p.Ala556Thr)
c.1258G>A (p.Ala420Thr)
c.742G>A (p.Ala248Thr)
n.2452G>A
n.2455G>A
n.2399G>A
9g.14842416T>ACA464024443FREM1c.1638A>T (p.Arg546=)
n.2424A>T
c.1665A>T (p.Arg555=)
c.1257A>T (p.Arg419=)
c.741A>T (p.Arg247=)
n.2451A>T
n.2454A>T
n.2398A>T
9g.14842416T>CCA4991181FREM1c.1638A>G (p.Arg546=)
n.2424A>G
c.1665A>G (p.Arg555=)
c.1257A>G (p.Arg419=)
c.741A>G (p.Arg247=)
n.2451A>G
n.2454A>G
n.2398A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842416T>GCA464024444FREM1c.1638A>C (p.Arg546=)
n.2424A>C
c.1665A>C (p.Arg555=)
c.1257A>C (p.Arg419=)
c.741A>C (p.Arg247=)
n.2451A>C
n.2454A>C
n.2398A>C
9g.14842416T=CA1835222349FREM1c.1638A= (p.Arg546=)
n.2424A=
c.1665A= (p.Arg555=)
c.1257A= (p.Arg419=)
c.741A= (p.Arg247=)
n.2451A=
n.2454A=
n.2398A=
9g.14842417C>ACA372960200FREM1c.1637G>T (p.Arg546Leu)
n.2423G>T
c.1664G>T (p.Arg555Leu)
c.1256G>T (p.Arg419Leu)
c.740G>T (p.Arg247Leu)
n.2450G>T
n.2453G>T
n.2397G>T
9g.14842417C=CA1835222350FREM1c.1637G= (p.Arg546=)
n.2423G=
c.1664G= (p.Arg555=)
c.1256G= (p.Arg419=)
c.740G= (p.Arg247=)
n.2450G=
n.2453G=
n.2397G=
9g.14842417C>GCA372960199FREM1c.1637G>C (p.Arg546Pro)
n.2423G>C
c.1664G>C (p.Arg555Pro)
c.1256G>C (p.Arg419Pro)
c.740G>C (p.Arg247Pro)
n.2450G>C
n.2453G>C
n.2397G>C
9g.14842417C>TCA4991182FREM1c.1637G>A (p.Arg546Gln)
n.2423G>A
c.1664G>A (p.Arg555Gln)
c.1256G>A (p.Arg419Gln)
c.740G>A (p.Arg247Gln)
n.2450G>A
n.2453G>A
n.2397G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842418G>ACA372960201FREM1c.1636C>T (p.Arg546Ter)
n.2422C>T
c.1663C>T (p.Arg555Ter)
c.1255C>T (p.Arg419Ter)
c.739C>T (p.Arg247Ter)
n.2449C>T
n.2452C>T
n.2396C>T
 dbSNP gnomAD v2 gnomAD v4
9g.14842418G>CCA372960202FREM1c.1636C>G (p.Arg546Gly)
n.2422C>G
c.1663C>G (p.Arg555Gly)
c.1255C>G (p.Arg419Gly)
c.739C>G (p.Arg247Gly)
n.2449C>G
n.2452C>G
n.2396C>G
 gnomAD v4
9g.14842418G=CA1835222351FREM1c.1636C= (p.Arg546=)
n.2422C=
c.1663C= (p.Arg555=)
c.1255C= (p.Arg419=)
c.739C= (p.Arg247=)
n.2449C=
n.2452C=
n.2396C=
9g.14842418G>TCA4991183FREM1c.1636C>A (p.Arg546=)
n.2422C>A
c.1663C>A (p.Arg555=)
c.1255C>A (p.Arg419=)
c.739C>A (p.Arg247=)
n.2449C>A
n.2452C>A
n.2396C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842419C>ACA464024445FREM1c.1635G>T (p.Leu545=)
n.2421G>T
c.1662G>T (p.Leu554=)
c.1254G>T (p.Leu418=)
c.738G>T (p.Leu246=)
n.2448G>T
n.2451G>T
n.2395G>T
9g.14842419C>GCA464024446FREM1c.1635G>C (p.Leu545=)
n.2421G>C
c.1662G>C (p.Leu554=)
c.1254G>C (p.Leu418=)
c.738G>C (p.Leu246=)
n.2448G>C
n.2451G>C
n.2395G>C
9g.14842419C>TCA464024447FREM1c.1635G>A (p.Leu545=)
n.2421G>A
c.1662G>A (p.Leu554=)
c.1254G>A (p.Leu418=)
c.738G>A (p.Leu246=)
n.2448G>A
n.2451G>A
n.2395G>A
 COSMIC
9g.14842420A=CA1835222352FREM1c.1634T= (p.Leu545=)
n.2420T=
c.1661T= (p.Leu554=)
c.1253T= (p.Leu418=)
c.737T= (p.Leu246=)
n.2447T=
n.2450T=
n.2394T=
9g.14842420A>CCA372960203FREM1c.1634T>G (p.Leu545Arg)
n.2420T>G
c.1661T>G (p.Leu554Arg)
c.1253T>G (p.Leu418Arg)
c.737T>G (p.Leu246Arg)
n.2447T>G
n.2450T>G
n.2394T>G
9g.14842420A>GCA372960204FREM1c.1634T>C (p.Leu545Pro)
n.2420T>C
c.1661T>C (p.Leu554Pro)
c.1253T>C (p.Leu418Pro)
c.737T>C (p.Leu246Pro)
n.2447T>C
n.2450T>C
n.2394T>C
 ClinVar dbSNP
9g.14842420A>TCA372960205FREM1c.1634T>A (p.Leu545Gln)
n.2420T>A
c.1661T>A (p.Leu554Gln)
c.1253T>A (p.Leu418Gln)
c.737T>A (p.Leu246Gln)
n.2447T>A
n.2450T>A
n.2394T>A
9g.14842421G>ACA464024448FREM1c.1633C>T (p.Leu545=)
n.2419C>T
c.1660C>T (p.Leu554=)
c.1252C>T (p.Leu418=)
c.736C>T (p.Leu246=)
n.2446C>T
n.2449C>T
n.2393C>T
9g.14842421G>CCA372960206FREM1c.1633C>G (p.Leu545Val)
n.2419C>G
c.1660C>G (p.Leu554Val)
c.1252C>G (p.Leu418Val)
c.736C>G (p.Leu246Val)
n.2446C>G
n.2449C>G
n.2393C>G
 gnomAD v4
9g.14842421G>TCA372960207FREM1c.1633C>A (p.Leu545Met)
n.2419C>A
c.1660C>A (p.Leu554Met)
c.1252C>A (p.Leu418Met)
c.736C>A (p.Leu246Met)
n.2446C>A
n.2449C>A
n.2393C>A
9g.14842421_14842429delinsGCATGGATCCA1835222353FREM1c.1625_1633delinsGATCCATGC (p.Gly542=)
n.2411_2419delinsGATCCATGC
c.1652_1660delinsGATCCATGC (p.Gly551=)
c.1244_1252delinsGATCCATGC (p.Gly415=)
c.728_736delinsGATCCATGC (p.Gly243=)
n.2438_2446delinsGATCCATGC
n.2441_2449delinsGATCCATGC
n.2385_2393delinsGATCCATGC
9g.14842422C>ACA372960208FREM1c.1632G>T (p.Met544Ile)
n.2418G>T
c.1659G>T (p.Met553Ile)
c.1251G>T (p.Met417Ile)
c.735G>T (p.Met245Ile)
n.2445G>T
n.2448G>T
n.2392G>T
9g.14842422C>GCA372960209FREM1c.1632G>C (p.Met544Ile)
n.2418G>C
c.1659G>C (p.Met553Ile)
c.1251G>C (p.Met417Ile)
c.735G>C (p.Met245Ile)
n.2445G>C
n.2448G>C
n.2392G>C
9g.14842422C>TCA372960210FREM1c.1632G>A (p.Met544Ile)
n.2418G>A
c.1659G>A (p.Met553Ile)
c.1251G>A (p.Met417Ile)
c.735G>A (p.Met245Ile)
n.2445G>A
n.2448G>A
n.2392G>A
9g.14842423_14842430delCA918415978FREM1c.1625_1632del (p.Gly542AlafsTer10)
n.2411_2418del
c.1652_1659del (p.Gly551AlafsTer10)
c.1244_1251del (p.Gly415AlafsTer10)
c.728_735del (p.Gly243AlafsTer10)
n.2438_2445del
n.2441_2448del
n.2385_2392del
 dbSNP gnomAD v4
9g.14842423A=CA1835222354FREM1c.1631T= (p.Met544=)
n.2417T=
c.1658T= (p.Met553=)
c.1250T= (p.Met417=)
c.734T= (p.Met245=)
n.2444T=
n.2447T=
n.2391T=
9g.14842423A>CCA372960213FREM1c.1631T>G (p.Met544Arg)
n.2417T>G
c.1658T>G (p.Met553Arg)
c.1250T>G (p.Met417Arg)
c.734T>G (p.Met245Arg)
n.2444T>G
n.2447T>G
n.2391T>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842423A>GCA372960212FREM1c.1631T>C (p.Met544Thr)
n.2417T>C
c.1658T>C (p.Met553Thr)
c.1250T>C (p.Met417Thr)
c.734T>C (p.Met245Thr)
n.2444T>C
n.2447T>C
n.2391T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842423A>TCA372960211FREM1c.1631T>A (p.Met544Lys)
n.2417T>A
c.1658T>A (p.Met553Lys)
c.1250T>A (p.Met417Lys)
c.734T>A (p.Met245Lys)
n.2444T>A
n.2447T>A
n.2391T>A
9g.14842424T>ACA372960214FREM1c.1630A>T (p.Met544Leu)
n.2416A>T
c.1657A>T (p.Met553Leu)
c.1249A>T (p.Met417Leu)
c.733A>T (p.Met245Leu)
n.2443A>T
n.2446A>T
n.2390A>T
9g.14842424T>CCA372960215FREM1c.1630A>G (p.Met544Val)
n.2416A>G
c.1657A>G (p.Met553Val)
c.1249A>G (p.Met417Val)
c.733A>G (p.Met245Val)
n.2443A>G
n.2446A>G
n.2390A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842424T>GCA372960216FREM1c.1630A>C (p.Met544Leu)
n.2416A>C
c.1657A>C (p.Met553Leu)
c.1249A>C (p.Met417Leu)
c.733A>C (p.Met245Leu)
n.2443A>C
n.2446A>C
n.2390A>C
9g.14842424T=CA1835222355FREM1c.1630A= (p.Met544=)
n.2416A=
c.1657A= (p.Met553=)
c.1249A= (p.Met417=)
c.733A= (p.Met245=)
n.2443A=
n.2446A=
n.2390A=
9g.14842425G>ACA464024455FREM1c.1629C>T (p.Ser543=)
n.2415C>T
c.1656C>T (p.Ser552=)
c.1248C>T (p.Ser416=)
c.732C>T (p.Ser244=)
n.2442C>T
n.2445C>T
n.2389C>T
9g.14842425G>CCA464024454FREM1c.1629C>G (p.Ser543=)
n.2415C>G
c.1656C>G (p.Ser552=)
c.1248C>G (p.Ser416=)
c.732C>G (p.Ser244=)
n.2442C>G
n.2445C>G
n.2389C>G
9g.14842425G>TCA464024453FREM1c.1629C>A (p.Ser543=)
n.2415C>A
c.1656C>A (p.Ser552=)
c.1248C>A (p.Ser416=)
c.732C>A (p.Ser244=)
n.2442C>A
n.2445C>A
n.2389C>A
9g.14842426G>ACA372960217FREM1c.1628C>T (p.Ser543Phe)
n.2414C>T
c.1655C>T (p.Ser552Phe)
c.1247C>T (p.Ser416Phe)
c.731C>T (p.Ser244Phe)
n.2441C>T
n.2444C>T
n.2388C>T
9g.14842426G>CCA372960218FREM1c.1628C>G (p.Ser543Cys)
n.2414C>G
c.1655C>G (p.Ser552Cys)
c.1247C>G (p.Ser416Cys)
c.731C>G (p.Ser244Cys)
n.2441C>G
n.2444C>G
n.2388C>G
9g.14842426G>TCA372960219FREM1c.1628C>A (p.Ser543Tyr)
n.2414C>A
c.1655C>A (p.Ser552Tyr)
c.1247C>A (p.Ser416Tyr)
c.731C>A (p.Ser244Tyr)
n.2441C>A
n.2444C>A
n.2388C>A
9g.14842427A=CA1835222356FREM1c.1627T= (p.Ser543=)
n.2413T=
c.1654T= (p.Ser552=)
c.1246T= (p.Ser416=)
c.730T= (p.Ser244=)
n.2440T=
n.2443T=
n.2387T=
9g.14842427A>CCA372960220FREM1c.1627T>G (p.Ser543Ala)
n.2413T>G
c.1654T>G (p.Ser552Ala)
c.1246T>G (p.Ser416Ala)
c.730T>G (p.Ser244Ala)
n.2440T>G
n.2443T>G
n.2387T>G
9g.14842427A>GCA372960221FREM1c.1627T>C (p.Ser543Pro)
n.2413T>C
c.1654T>C (p.Ser552Pro)
c.1246T>C (p.Ser416Pro)
c.730T>C (p.Ser244Pro)
n.2440T>C
n.2443T>C
n.2387T>C
9g.14842427A>TCA372960222FREM1c.1627T>A (p.Ser543Thr)
n.2413T>A
c.1654T>A (p.Ser552Thr)
c.1246T>A (p.Ser416Thr)
c.730T>A (p.Ser244Thr)
n.2440T>A
n.2443T>A
n.2387T>A
 dbSNP gnomAD v4
9g.14842428T>ACA464024457FREM1c.1626A>T (p.Gly542=)
n.2412A>T
c.1653A>T (p.Gly551=)
c.1245A>T (p.Gly415=)
c.729A>T (p.Gly243=)
n.2439A>T
n.2442A>T
n.2386A>T
9g.14842428T>CCA464024458FREM1c.1626A>G (p.Gly542=)
n.2412A>G
c.1653A>G (p.Gly551=)
c.1245A>G (p.Gly415=)
c.729A>G (p.Gly243=)
n.2439A>G
n.2442A>G
n.2386A>G
9g.14842428T>GCA464024459FREM1c.1626A>C (p.Gly542=)
n.2412A>C
c.1653A>C (p.Gly551=)
c.1245A>C (p.Gly415=)
c.729A>C (p.Gly243=)
n.2439A>C
n.2442A>C
n.2386A>C
9g.14842429C>ACA372960223FREM1c.1625G>T (p.Gly542Val)
n.2411G>T
c.1652G>T (p.Gly551Val)
c.1244G>T (p.Gly415Val)
c.728G>T (p.Gly243Val)
n.2438G>T
n.2441G>T
n.2385G>T
9g.14842429C>GCA372960224FREM1c.1625G>C (p.Gly542Ala)
n.2411G>C
c.1652G>C (p.Gly551Ala)
c.1244G>C (p.Gly415Ala)
c.728G>C (p.Gly243Ala)
n.2438G>C
n.2441G>C
n.2385G>C
 gnomAD v4
9g.14842429C>TCA372960225FREM1c.1625G>A (p.Gly542Glu)
n.2411G>A
c.1652G>A (p.Gly551Glu)
c.1244G>A (p.Gly415Glu)
c.728G>A (p.Gly243Glu)
n.2438G>A
n.2441G>A
n.2385G>A
 gnomAD v4 COSMIC
9g.14842430C>ACA4991184FREM1c.1624G>T (p.Gly542Ter)
n.2410G>T
c.1651G>T (p.Gly551Ter)
c.1243G>T (p.Gly415Ter)
c.727G>T (p.Gly243Ter)
n.2437G>T
n.2440G>T
n.2384G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842430C=CA1835222357FREM1c.1624G= (p.Gly542=)
n.2410G=
c.1651G= (p.Gly551=)
c.1243G= (p.Gly415=)
c.727G= (p.Gly243=)
n.2437G=
n.2440G=
n.2384G=
9g.14842430C>GCA372960226FREM1c.1624G>C (p.Gly542Arg)
n.2410G>C
c.1651G>C (p.Gly551Arg)
c.1243G>C (p.Gly415Arg)
c.727G>C (p.Gly243Arg)
n.2437G>C
n.2440G>C
n.2384G>C
9g.14842430C>TCA372960227FREM1c.1624G>A (p.Gly542Arg)
n.2410G>A
c.1651G>A (p.Gly551Arg)
c.1243G>A (p.Gly415Arg)
c.727G>A (p.Gly243Arg)
n.2437G>A
n.2440G>A
n.2384G>A
9g.14842431C>ACA372960228FREM1c.1623G>T (p.Gln541His)
n.2409G>T
c.1650G>T (p.Gln550His)
c.1242G>T (p.Gln414His)
c.726G>T (p.Gln242His)
n.2436G>T
n.2439G>T
n.2383G>T
9g.14842431C>GCA372960229FREM1c.1623G>C (p.Gln541His)
n.2409G>C
c.1650G>C (p.Gln550His)
c.1242G>C (p.Gln414His)
c.726G>C (p.Gln242His)
n.2436G>C
n.2439G>C
n.2383G>C
9g.14842431C>TCA464024463FREM1c.1623G>A (p.Gln541=)
n.2409G>A
c.1650G>A (p.Gln550=)
c.1242G>A (p.Gln414=)
c.726G>A (p.Gln242=)
n.2436G>A
n.2439G>A
n.2383G>A
 gnomAD v4
9g.14842432T>ACA372960230FREM1c.1622A>T (p.Gln541Leu)
n.2408A>T
c.1649A>T (p.Gln550Leu)
c.1241A>T (p.Gln414Leu)
c.725A>T (p.Gln242Leu)
n.2435A>T
n.2438A>T
n.2382A>T
9g.14842432T>CCA372960231FREM1c.1622A>G (p.Gln541Arg)
n.2408A>G
c.1649A>G (p.Gln550Arg)
c.1241A>G (p.Gln414Arg)
c.725A>G (p.Gln242Arg)
n.2435A>G
n.2438A>G
n.2382A>G
9g.14842432T>GCA372960232FREM1c.1622A>C (p.Gln541Pro)
n.2408A>C
c.1649A>C (p.Gln550Pro)
c.1241A>C (p.Gln414Pro)
c.725A>C (p.Gln242Pro)
n.2435A>C
n.2438A>C
n.2382A>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842432T=CA1835222358FREM1c.1622A= (p.Gln541=)
n.2408A=
c.1649A= (p.Gln550=)
c.1241A= (p.Gln414=)
c.725A= (p.Gln242=)
n.2435A=
n.2438A=
n.2382A=
9g.14842433G>ACA189364176FREM1c.1621C>T (p.Gln541Ter)
n.2407C>T
c.1648C>T (p.Gln550Ter)
c.1240C>T (p.Gln414Ter)
c.724C>T (p.Gln242Ter)
n.2434C>T
n.2437C>T
n.2381C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842433G>CCA372960233FREM1c.1621C>G (p.Gln541Glu)
n.2407C>G
c.1648C>G (p.Gln550Glu)
c.1240C>G (p.Gln414Glu)
c.724C>G (p.Gln242Glu)
n.2434C>G
n.2437C>G
n.2381C>G
9g.14842433G=CA1835222359FREM1c.1621C= (p.Gln541=)
n.2407C=
c.1648C= (p.Gln550=)
c.1240C= (p.Gln414=)
c.724C= (p.Gln242=)
n.2434C=
n.2437C=
n.2381C=
9g.14842433G>TCA372960234FREM1c.1621C>A (p.Gln541Lys)
n.2407C>A
c.1648C>A (p.Gln550Lys)
c.1240C>A (p.Gln414Lys)
c.724C>A (p.Gln242Lys)
n.2434C>A
n.2437C>A
n.2381C>A
9g.14842434G>ACA464024466FREM1c.1620C>T (p.Ile540=)
n.2406C>T
c.1647C>T (p.Ile549=)
c.1239C>T (p.Ile413=)
c.723C>T (p.Ile241=)
n.2433C>T
n.2436C>T
n.2380C>T
9g.14842434G>CCA372960235FREM1c.1620C>G (p.Ile540Met)
n.2406C>G
c.1647C>G (p.Ile549Met)
c.1239C>G (p.Ile413Met)
c.723C>G (p.Ile241Met)
n.2433C>G
n.2436C>G
n.2380C>G
9g.14842434G=CA1835222360FREM1c.1620C= (p.Ile540=)
n.2406C=
c.1647C= (p.Ile549=)
c.1239C= (p.Ile413=)
c.723C= (p.Ile241=)
n.2433C=
n.2436C=
n.2380C=
9g.14842434G>TCA464024467FREM1c.1620C>A (p.Ile540=)
n.2406C>A
c.1647C>A (p.Ile549=)
c.1239C>A (p.Ile413=)
c.723C>A (p.Ile241=)
n.2433C>A
n.2436C>A
n.2380C>A
 dbSNP gnomAD v2 gnomAD v4
9g.14842435A>CCA372960236FREM1c.1619T>G (p.Ile540Ser)
n.2405T>G
c.1646T>G (p.Ile549Ser)
c.1238T>G (p.Ile413Ser)
c.722T>G (p.Ile241Ser)
n.2432T>G
n.2435T>G
n.2379T>G
9g.14842435A>GCA372960237FREM1c.1619T>C (p.Ile540Thr)
n.2405T>C
c.1646T>C (p.Ile549Thr)
c.1238T>C (p.Ile413Thr)
c.722T>C (p.Ile241Thr)
n.2432T>C
n.2435T>C
n.2379T>C
9g.14842435A>TCA372960238FREM1c.1619T>A (p.Ile540Asn)
n.2405T>A
c.1646T>A (p.Ile549Asn)
c.1238T>A (p.Ile413Asn)
c.722T>A (p.Ile241Asn)
n.2432T>A
n.2435T>A
n.2379T>A
9g.14842436T>ACA372960241FREM1c.1618A>T (p.Ile540Phe)
n.2404A>T
c.1645A>T (p.Ile549Phe)
c.1237A>T (p.Ile413Phe)
c.721A>T (p.Ile241Phe)
n.2431A>T
n.2434A>T
n.2378A>T
9g.14842436T>CCA372960240FREM1c.1618A>G (p.Ile540Val)
n.2404A>G
c.1645A>G (p.Ile549Val)
c.1237A>G (p.Ile413Val)
c.721A>G (p.Ile241Val)
n.2431A>G
n.2434A>G
n.2378A>G
9g.14842436T>GCA372960239FREM1c.1618A>C (p.Ile540Leu)
n.2404A>C
c.1645A>C (p.Ile549Leu)
c.1237A>C (p.Ile413Leu)
c.721A>C (p.Ile241Leu)
n.2431A>C
n.2434A>C
n.2378A>C
9g.14842437C>ACA464024468FREM1c.1617G>T (p.Leu539=)
n.2403G>T
c.1644G>T (p.Leu548=)
c.1236G>T (p.Leu412=)
c.720G>T (p.Leu240=)
n.2430G>T
n.2433G>T
n.2377G>T
9g.14842437C=CA1835222361FREM1c.1617G= (p.Leu539=)
n.2403G=
c.1644G= (p.Leu548=)
c.1236G= (p.Leu412=)
c.720G= (p.Leu240=)
n.2430G=
n.2433G=
n.2377G=
9g.14842437C>GCA464024469FREM1c.1617G>C (p.Leu539=)
n.2403G>C
c.1644G>C (p.Leu548=)
c.1236G>C (p.Leu412=)
c.720G>C (p.Leu240=)
n.2430G>C
n.2433G>C
n.2377G>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842437C>TCA464024471FREM1c.1617G>A (p.Leu539=)
n.2403G>A
c.1644G>A (p.Leu548=)
c.1236G>A (p.Leu412=)
c.720G>A (p.Leu240=)
n.2430G>A
n.2433G>A
n.2377G>A
9g.14842438A=CA1835222362FREM1c.1616T= (p.Leu539=)
n.2402T=
c.1643T= (p.Leu548=)
c.1235T= (p.Leu412=)
c.719T= (p.Leu240=)
n.2429T=
n.2432T=
n.2376T=
9g.14842438A>CCA372960243FREM1c.1616T>G (p.Leu539Arg)
n.2402T>G
c.1643T>G (p.Leu548Arg)
c.1235T>G (p.Leu412Arg)
c.719T>G (p.Leu240Arg)
n.2429T>G
n.2432T>G
n.2376T>G
9g.14842438A>GCA372960242FREM1c.1616T>C (p.Leu539Pro)
n.2402T>C
c.1643T>C (p.Leu548Pro)
c.1235T>C (p.Leu412Pro)
c.719T>C (p.Leu240Pro)
n.2429T>C
n.2432T>C
n.2376T>C
9g.14842438A>TCA4991185FREM1c.1616T>A (p.Leu539Gln)
n.2402T>A
c.1643T>A (p.Leu548Gln)
c.1235T>A (p.Leu412Gln)
c.719T>A (p.Leu240Gln)
n.2429T>A
n.2432T>A
n.2376T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842439G>ACA464024472FREM1c.1615C>T (p.Leu539=)
n.2401C>T
c.1642C>T (p.Leu548=)
c.1234C>T (p.Leu412=)
c.718C>T (p.Leu240=)
n.2428C>T
n.2431C>T
n.2375C>T
9g.14842439G>CCA372960244FREM1c.1615C>G (p.Leu539Val)
n.2401C>G
c.1642C>G (p.Leu548Val)
c.1234C>G (p.Leu412Val)
c.718C>G (p.Leu240Val)
n.2428C>G
n.2431C>G
n.2375C>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842439G=CA1835222363FREM1c.1615C= (p.Leu539=)
n.2401C=
c.1642C= (p.Leu548=)
c.1234C= (p.Leu412=)
c.718C= (p.Leu240=)
n.2428C=
n.2431C=
n.2375C=
9g.14842439G>TCA372960245FREM1c.1615C>A (p.Leu539Met)
n.2401C>A
c.1642C>A (p.Leu548Met)
c.1234C>A (p.Leu412Met)
c.718C>A (p.Leu240Met)
n.2428C>A
n.2431C>A
n.2375C>A
9g.14842439_14842449delCA2689439138FREM1c.1605_1615del (p.Gln536AspfsTer15)
n.2391_2401del
c.1632_1642del (p.Gln545AspfsTer15)
c.1224_1234del (p.Gln409AspfsTer15)
c.708_718del (p.Gln237AspfsTer15)
n.2418_2428del
n.2421_2431del
n.2365_2375del
 gnomAD v4
9g.14842440G>ACA464024474FREM1c.1614C>T (p.Ile538=)
n.2400C>T
c.1641C>T (p.Ile547=)
c.1233C>T (p.Ile411=)
c.717C>T (p.Ile239=)
n.2427C>T
n.2430C>T
n.2374C>T
9g.14842440G>CCA372960246FREM1c.1614C>G (p.Ile538Met)
n.2400C>G
c.1641C>G (p.Ile547Met)
c.1233C>G (p.Ile411Met)
c.717C>G (p.Ile239Met)
n.2427C>G
n.2430C>G
n.2374C>G
 dbSNP COSMIC
9g.14842440G=CA1835222364FREM1c.1614C= (p.Ile538=)
n.2400C=
c.1641C= (p.Ile547=)
c.1233C= (p.Ile411=)
c.717C= (p.Ile239=)
n.2427C=
n.2430C=
n.2374C=
9g.14842440G>TCA464024477FREM1c.1614C>A (p.Ile538=)
n.2400C>A
c.1641C>A (p.Ile547=)
c.1233C>A (p.Ile411=)
c.717C>A (p.Ile239=)
n.2427C>A
n.2430C>A
n.2374C>A
9g.14842441A>CCA372960247FREM1c.1613T>G (p.Ile538Ser)
n.2399T>G
c.1640T>G (p.Ile547Ser)
c.1232T>G (p.Ile411Ser)
c.716T>G (p.Ile239Ser)
n.2426T>G
n.2429T>G
n.2373T>G
9g.14842441A>GCA372960248FREM1c.1613T>C (p.Ile538Thr)
n.2399T>C
c.1640T>C (p.Ile547Thr)
c.1232T>C (p.Ile411Thr)
c.716T>C (p.Ile239Thr)
n.2426T>C
n.2429T>C
n.2373T>C
 gnomAD v4
9g.14842441A>TCA372960249FREM1c.1613T>A (p.Ile538Asn)
n.2399T>A
c.1640T>A (p.Ile547Asn)
c.1232T>A (p.Ile411Asn)
c.716T>A (p.Ile239Asn)
n.2426T>A
n.2429T>A
n.2373T>A
9g.14842442T>ACA372960250FREM1c.1612A>T (p.Ile538Phe)
n.2398A>T
c.1639A>T (p.Ile547Phe)
c.1231A>T (p.Ile411Phe)
c.715A>T (p.Ile239Phe)
n.2425A>T
n.2428A>T
n.2372A>T
9g.14842442T>CCA4991186FREM1c.1612A>G (p.Ile538Val)
n.2398A>G
c.1639A>G (p.Ile547Val)
c.1231A>G (p.Ile411Val)
c.715A>G (p.Ile239Val)
n.2425A>G
n.2428A>G
n.2372A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842442T>GCA372960251FREM1c.1612A>C (p.Ile538Leu)
n.2398A>C
c.1639A>C (p.Ile547Leu)
c.1231A>C (p.Ile411Leu)
c.715A>C (p.Ile239Leu)
n.2425A>C
n.2428A>C
n.2372A>C
 gnomAD v4
9g.14842442T=CA1835222365FREM1c.1612A= (p.Ile538=)
n.2398A=
c.1639A= (p.Ile547=)
c.1231A= (p.Ile411=)
c.715A= (p.Ile239=)
n.2425A=
n.2428A=
n.2372A=
9g.14842443G>ACA464024479FREM1c.1611C>T (p.Thr537=)
n.2397C>T
c.1638C>T (p.Thr546=)
c.1230C>T (p.Thr410=)
c.714C>T (p.Thr238=)
n.2424C>T
n.2427C>T
n.2371C>T
9g.14842443G>CCA464024480FREM1c.1611C>G (p.Thr537=)
n.2397C>G
c.1638C>G (p.Thr546=)
c.1230C>G (p.Thr410=)
c.714C>G (p.Thr238=)
n.2424C>G
n.2427C>G
n.2371C>G
 dbSNP gnomAD v4
9g.14842443G=CA1835222366FREM1c.1611C= (p.Thr537=)
n.2397C=
c.1638C= (p.Thr546=)
c.1230C= (p.Thr410=)
c.714C= (p.Thr238=)
n.2424C=
n.2427C=
n.2371C=
9g.14842443G>TCA464024481FREM1c.1611C>A (p.Thr537=)
n.2397C>A
c.1638C>A (p.Thr546=)
c.1230C>A (p.Thr410=)
c.714C>A (p.Thr238=)
n.2424C>A
n.2427C>A
n.2371C>A
9g.14842444G>ACA4991187FREM1c.1610C>T (p.Thr537Ile)
n.2396C>T
c.1637C>T (p.Thr546Ile)
c.1229C>T (p.Thr410Ile)
c.713C>T (p.Thr238Ile)
n.2423C>T
n.2426C>T
n.2370C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842444G>CCA372960252FREM1c.1610C>G (p.Thr537Ser)
n.2396C>G
c.1637C>G (p.Thr546Ser)
c.1229C>G (p.Thr410Ser)
c.713C>G (p.Thr238Ser)
n.2423C>G
n.2426C>G
n.2370C>G
 gnomAD v4
9g.14842444G=CA1835222367FREM1c.1610C= (p.Thr537=)
n.2396C=
c.1637C= (p.Thr546=)
c.1229C= (p.Thr410=)
c.713C= (p.Thr238=)
n.2423C=
n.2426C=
n.2370C=
9g.14842444G>TCA372960253FREM1c.1610C>A (p.Thr537Asn)
n.2396C>A
c.1637C>A (p.Thr546Asn)
c.1229C>A (p.Thr410Asn)
c.713C>A (p.Thr238Asn)
n.2423C>A
n.2426C>A
n.2370C>A
9g.14842445T>ACA372960256FREM1c.1609A>T (p.Thr537Ser)
n.2395A>T
c.1636A>T (p.Thr546Ser)
c.1228A>T (p.Thr410Ser)
c.712A>T (p.Thr238Ser)
n.2422A>T
n.2425A>T
n.2369A>T
9g.14842445T>CCA372960254FREM1c.1609A>G (p.Thr537Ala)
n.2395A>G
c.1636A>G (p.Thr546Ala)
c.1228A>G (p.Thr410Ala)
c.712A>G (p.Thr238Ala)
n.2422A>G
n.2425A>G
n.2369A>G
 dbSNP
9g.14842445T>GCA372960255FREM1c.1609A>C (p.Thr537Pro)
n.2395A>C
c.1636A>C (p.Thr546Pro)
c.1228A>C (p.Thr410Pro)
c.712A>C (p.Thr238Pro)
n.2422A>C
n.2425A>C
n.2369A>C
 gnomAD v4
9g.14842446C>ACA372960257FREM1c.1608G>T (p.Gln536His)
n.2394G>T
c.1635G>T (p.Gln545His)
c.1227G>T (p.Gln409His)
c.711G>T (p.Gln237His)
n.2421G>T
n.2424G>T
n.2368G>T
9g.14842446C=CA1835222368FREM1c.1608G= (p.Gln536=)
n.2394G=
c.1635G= (p.Gln545=)
c.1227G= (p.Gln409=)
c.711G= (p.Gln237=)
n.2421G=
n.2424G=
n.2368G=
9g.14842446C>GCA372960258FREM1c.1608G>C (p.Gln536His)
n.2394G>C
c.1635G>C (p.Gln545His)
c.1227G>C (p.Gln409His)
c.711G>C (p.Gln237His)
n.2421G>C
n.2424G>C
n.2368G>C
 dbSNP
9g.14842446C>TCA464024482FREM1c.1608G>A (p.Gln536=)
n.2394G>A
c.1635G>A (p.Gln545=)
c.1227G>A (p.Gln409=)
c.711G>A (p.Gln237=)
n.2421G>A
n.2424G>A
n.2368G>A
 dbSNP
9g.14842447T>ACA372960259FREM1c.1607A>T (p.Gln536Leu)
n.2393A>T
c.1634A>T (p.Gln545Leu)
c.1226A>T (p.Gln409Leu)
c.710A>T (p.Gln237Leu)
n.2420A>T
n.2423A>T
n.2367A>T
9g.14842447T>CCA372960260FREM1c.1607A>G (p.Gln536Arg)
n.2393A>G
c.1634A>G (p.Gln545Arg)
c.1226A>G (p.Gln409Arg)
c.710A>G (p.Gln237Arg)
n.2420A>G
n.2423A>G
n.2367A>G
 gnomAD v4
9g.14842447T>GCA372960261FREM1c.1607A>C (p.Gln536Pro)
n.2393A>C
c.1634A>C (p.Gln545Pro)
c.1226A>C (p.Gln409Pro)
c.710A>C (p.Gln237Pro)
n.2420A>C
n.2423A>C
n.2367A>C
9g.14842448G>ACA372960262FREM1c.1606C>T (p.Gln536Ter)
n.2392C>T
c.1633C>T (p.Gln545Ter)
c.1225C>T (p.Gln409Ter)
c.709C>T (p.Gln237Ter)
n.2419C>T
n.2422C>T
n.2366C>T
 gnomAD v4
9g.14842448G>CCA372960263FREM1c.1606C>G (p.Gln536Glu)
n.2392C>G
c.1633C>G (p.Gln545Glu)
c.1225C>G (p.Gln409Glu)
c.709C>G (p.Gln237Glu)
n.2419C>G
n.2422C>G
n.2366C>G
9g.14842448G=CA1835222369FREM1c.1606C= (p.Gln536=)
n.2392C=
c.1633C= (p.Gln545=)
c.1225C= (p.Gln409=)
c.709C= (p.Gln237=)
n.2419C=
n.2422C=
n.2366C=
9g.14842448G>TCA372960264FREM1c.1606C>A (p.Gln536Lys)
n.2392C>A
c.1633C>A (p.Gln545Lys)
c.1225C>A (p.Gln409Lys)
c.709C>A (p.Gln237Lys)
n.2419C>A
n.2422C>A
n.2366C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842448_14842449delinsGCCA1835222370FREM1c.1605_1606delinsGC (p.Gly535=)
n.2391_2392delinsGC
c.1632_1633delinsGC (p.Gly544=)
c.1224_1225delinsGC (p.Gly408=)
c.708_709delinsGC (p.Gly236=)
n.2418_2419delinsGC
n.2421_2422delinsGC
n.2365_2366delinsGC
9g.14842449C>ACA464024486FREM1c.1605G>T (p.Gly535=)
n.2391G>T
c.1632G>T (p.Gly544=)
c.1224G>T (p.Gly408=)
c.708G>T (p.Gly236=)
n.2418G>T
n.2421G>T
n.2365G>T
9g.14842449C>GCA464024485FREM1c.1605G>C (p.Gly535=)
n.2391G>C
c.1632G>C (p.Gly544=)
c.1224G>C (p.Gly408=)
c.708G>C (p.Gly236=)
n.2418G>C
n.2421G>C
n.2365G>C
9g.14842449C>TCA464024484FREM1c.1605G>A (p.Gly535=)
n.2391G>A
c.1632G>A (p.Gly544=)
c.1224G>A (p.Gly408=)
c.708G>A (p.Gly236=)
n.2418G>A
n.2421G>A
n.2365G>A
9g.14842452delCA918415979FREM1c.1605del (p.Gln536ArgfsTer4)
n.2391del
c.1632del (p.Gln545ArgfsTer4)
c.1224del (p.Gln409ArgfsTer4)
c.708del (p.Gln237ArgfsTer4)
n.2418del
n.2421del
n.2365del
 dbSNP
9g.14842450C>ACA372960265FREM1c.1604G>T (p.Gly535Val)
n.2390G>T
c.1631G>T (p.Gly544Val)
c.1223G>T (p.Gly408Val)
c.707G>T (p.Gly236Val)
n.2417G>T
n.2420G>T
n.2364G>T
9g.14842450C>GCA372960266FREM1c.1604G>C (p.Gly535Ala)
n.2390G>C
c.1631G>C (p.Gly544Ala)
c.1223G>C (p.Gly408Ala)
c.707G>C (p.Gly236Ala)
n.2417G>C
n.2420G>C
n.2364G>C
9g.14842450C>TCA372960267FREM1c.1604G>A (p.Gly535Glu)
n.2390G>A
c.1631G>A (p.Gly544Glu)
c.1223G>A (p.Gly408Glu)
c.707G>A (p.Gly236Glu)
n.2417G>A
n.2420G>A
n.2364G>A
 gnomAD v4
9g.14842451C>ACA372960269FREM1c.1603G>T (p.Gly535Trp)
n.2389G>T
c.1630G>T (p.Gly544Trp)
c.1222G>T (p.Gly408Trp)
c.706G>T (p.Gly236Trp)
n.2416G>T
n.2419G>T
n.2363G>T
9g.14842451C>GCA372960270FREM1c.1603G>C (p.Gly535Arg)
n.2389G>C
c.1630G>C (p.Gly544Arg)
c.1222G>C (p.Gly408Arg)
c.706G>C (p.Gly236Arg)
n.2416G>C
n.2419G>C
n.2363G>C
 gnomAD v4
9g.14842451C>TCA372960268FREM1c.1603G>A (p.Gly535Arg)
n.2389G>A
c.1630G>A (p.Gly544Arg)
c.1222G>A (p.Gly408Arg)
c.706G>A (p.Gly236Arg)
n.2416G>A
n.2419G>A
n.2363G>A
9g.14842452C>ACA372960271FREM1c.1602G>T (p.Glu534Asp)
n.2388G>T
c.1629G>T (p.Glu543Asp)
c.1221G>T (p.Glu407Asp)
c.705G>T (p.Glu235Asp)
n.2415G>T
n.2418G>T
n.2362G>T
9g.14842452C=CA1835222371FREM1c.1602G= (p.Glu534=)
n.2388G=
c.1629G= (p.Glu543=)
c.1221G= (p.Glu407=)
c.705G= (p.Glu235=)
n.2415G=
n.2418G=
n.2362G=
9g.14842452C>GCA372960272FREM1c.1602G>C (p.Glu534Asp)
n.2388G>C
c.1629G>C (p.Glu543Asp)
c.1221G>C (p.Glu407Asp)
c.705G>C (p.Glu235Asp)
n.2415G>C
n.2418G>C
n.2362G>C
9g.14842452C>TCA464024488FREM1c.1602G>A (p.Glu534=)
n.2388G>A
c.1629G>A (p.Glu543=)
c.1221G>A (p.Glu407=)
c.705G>A (p.Glu235=)
n.2415G>A
n.2418G>A
n.2362G>A
 dbSNP
9g.14842453T>ACA372960273FREM1c.1601A>T (p.Glu534Val)
n.2387A>T
c.1628A>T (p.Glu543Val)
c.1220A>T (p.Glu407Val)
c.704A>T (p.Glu235Val)
n.2414A>T
n.2417A>T
n.2361A>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.14842453T>CCA372960274FREM1c.1601A>G (p.Glu534Gly)
n.2387A>G
c.1628A>G (p.Glu543Gly)
c.1220A>G (p.Glu407Gly)
c.704A>G (p.Glu235Gly)
n.2414A>G
n.2417A>G
n.2361A>G
 gnomAD v4
9g.14842453T>GCA372960275FREM1c.1601A>C (p.Glu534Ala)
n.2387A>C
c.1628A>C (p.Glu543Ala)
c.1220A>C (p.Glu407Ala)
c.704A>C (p.Glu235Ala)
n.2414A>C
n.2417A>C
n.2361A>C
9g.14842453T=CA1835222372FREM1c.1601A= (p.Glu534=)
n.2387A=
c.1628A= (p.Glu543=)
c.1220A= (p.Glu407=)
c.704A= (p.Glu235=)
n.2414A=
n.2417A=
n.2361A=
9g.14842454C>ACA372960276FREM1c.1600G>T (p.Glu534Ter)
n.2386G>T
c.1627G>T (p.Glu543Ter)
c.1219G>T (p.Glu407Ter)
c.703G>T (p.Glu235Ter)
n.2413G>T
n.2416G>T
n.2360G>T
9g.14842454C=CA1835222373FREM1c.1600G= (p.Glu534=)
n.2386G=
c.1627G= (p.Glu543=)
c.1219G= (p.Glu407=)
c.703G= (p.Glu235=)
n.2413G=
n.2416G=
n.2360G=
9g.14842454C>GCA372960277FREM1c.1600G>C (p.Glu534Gln)
n.2386G>C
c.1627G>C (p.Glu543Gln)
c.1219G>C (p.Glu407Gln)
c.703G>C (p.Glu235Gln)
n.2413G>C
n.2416G>C
n.2360G>C
9g.14842454C>TCA372960278FREM1c.1600G>A (p.Glu534Lys)
n.2386G>A
c.1627G>A (p.Glu543Lys)
c.1219G>A (p.Glu407Lys)
c.703G>A (p.Glu235Lys)
n.2413G>A
n.2416G>A
n.2360G>A
 dbSNP gnomAD v2 gnomAD v4
9g.14842455C>ACA372960279FREM1c.1599G>T (p.Glu533Asp)
n.2385G>T
c.1626G>T (p.Glu542Asp)
c.1218G>T (p.Glu406Asp)
c.702G>T (p.Glu234Asp)
n.2412G>T
n.2415G>T
n.2359G>T
9g.14842455C>GCA372960280FREM1c.1599G>C (p.Glu533Asp)
n.2385G>C
c.1626G>C (p.Glu542Asp)
c.1218G>C (p.Glu406Asp)
c.702G>C (p.Glu234Asp)
n.2412G>C
n.2415G>C
n.2359G>C
9g.14842455C>TCA464024492FREM1c.1599G>A (p.Glu533=)
n.2385G>A
c.1626G>A (p.Glu542=)
c.1218G>A (p.Glu406=)
c.702G>A (p.Glu234=)
n.2412G>A
n.2415G>A
n.2359G>A
9g.14842456T>ACA372960281FREM1c.1598A>T (p.Glu533Val)
n.2384A>T
c.1625A>T (p.Glu542Val)
c.1217A>T (p.Glu406Val)
c.701A>T (p.Glu234Val)
n.2411A>T
n.2414A>T
n.2358A>T
9g.14842456T>CCA372960282FREM1c.1598A>G (p.Glu533Gly)
n.2384A>G
c.1625A>G (p.Glu542Gly)
c.1217A>G (p.Glu406Gly)
c.701A>G (p.Glu234Gly)
n.2411A>G
n.2414A>G
n.2358A>G
9g.14842456T>GCA372960283FREM1c.1598A>C (p.Glu533Ala)
n.2384A>C
c.1625A>C (p.Glu542Ala)
c.1217A>C (p.Glu406Ala)
c.701A>C (p.Glu234Ala)
n.2411A>C
n.2414A>C
n.2358A>C
 dbSNP gnomAD v2 gnomAD v4
9g.14842456T=CA1835222374FREM1c.1598A= (p.Glu533=)
n.2384A=
c.1625A= (p.Glu542=)
c.1217A= (p.Glu406=)
c.701A= (p.Glu234=)
n.2411A=
n.2414A=
n.2358A=
9g.14842457C>ACA4991188FREM1c.1597G>T (p.Glu533Ter)
n.2383G>T
c.1624G>T (p.Glu542Ter)
c.1216G>T (p.Glu406Ter)
c.700G>T (p.Glu234Ter)
n.2410G>T
n.2413G>T
n.2357G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842457C=CA1835222375FREM1c.1597G= (p.Glu533=)
n.2383G=
c.1624G= (p.Glu542=)
c.1216G= (p.Glu406=)
c.700G= (p.Glu234=)
n.2410G=
n.2413G=
n.2357G=
9g.14842457C>GCA372960285FREM1c.1597G>C (p.Glu533Gln)
n.2383G>C
c.1624G>C (p.Glu542Gln)
c.1216G>C (p.Glu406Gln)
c.700G>C (p.Glu234Gln)
n.2410G>C
n.2413G>C
n.2357G>C
 gnomAD v4
9g.14842457C>TCA372960284FREM1c.1597G>A (p.Glu533Lys)
n.2383G>A
c.1624G>A (p.Glu542Lys)
c.1216G>A (p.Glu406Lys)
c.700G>A (p.Glu234Lys)
n.2410G>A
n.2413G>A
n.2357G>A
 dbSNP gnomAD v4
9g.14842458_14842459insTGCCCCCA2689439139FREM1c.1597_1598insGGCAGG (p.Leu532_Glu533insGlyGln)
n.2383_2384insGGCAGG
c.1624_1625insGGCAGG (p.Leu541_Glu542insGlyGln)
c.1216_1217insGGCAGG (p.Leu405_Glu406insGlyGln)
c.700_701insGGCAGG (p.Leu233_Glu234insGlyGln)
n.2410_2411insGGCAGG
n.2413_2414insGGCAGG
n.2357_2358insGGCAGG
 gnomAD v4
9g.14842458C>ACA464024495FREM1c.1596G>T (p.Leu532=)
n.2382G>T
c.1623G>T (p.Leu541=)
c.1215G>T (p.Leu405=)
c.699G>T (p.Leu233=)
n.2409G>T
n.2412G>T
n.2356G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.14842458C=CA1835222376FREM1c.1596G= (p.Leu532=)
n.2382G=
c.1623G= (p.Leu541=)
c.1215G= (p.Leu405=)
c.699G= (p.Leu233=)
n.2409G=
n.2412G=
n.2356G=
9g.14842458C>GCA464024496FREM1c.1596G>C (p.Leu532=)
n.2382G>C
c.1623G>C (p.Leu541=)
c.1215G>C (p.Leu405=)
c.699G>C (p.Leu233=)
n.2409G>C
n.2412G>C
n.2356G>C
9g.14842458C>TCA464024497FREM1c.1596G>A (p.Leu532=)
n.2382G>A
c.1623G>A (p.Leu541=)
c.1215G>A (p.Leu405=)
c.699G>A (p.Leu233=)
n.2409G>A
n.2412G>A
n.2356G>A
 gnomAD v4
9g.14842459A>CCA372960286FREM1c.1595T>G (p.Leu532Arg)
n.2381T>G
c.1622T>G (p.Leu541Arg)
c.1214T>G (p.Leu405Arg)
c.698T>G (p.Leu233Arg)
n.2408T>G
n.2411T>G
n.2355T>G
 gnomAD v4
9g.14842459A>GCA372960287FREM1c.1595T>C (p.Leu532Pro)
n.2381T>C
c.1622T>C (p.Leu541Pro)
c.1214T>C (p.Leu405Pro)
c.698T>C (p.Leu233Pro)
n.2408T>C
n.2411T>C
n.2355T>C
 gnomAD v4
9g.14842459A>TCA372960288FREM1c.1595T>A (p.Leu532Gln)
n.2381T>A
c.1622T>A (p.Leu541Gln)
c.1214T>A (p.Leu405Gln)
c.698T>A (p.Leu233Gln)
n.2408T>A
n.2411T>A
n.2355T>A
9g.14842460G>ACA189364185FREM1c.1594C>T (p.Leu532=)
n.2380C>T
c.1621C>T (p.Leu541=)
c.1213C>T (p.Leu405=)
c.697C>T (p.Leu233=)
n.2407C>T
n.2410C>T
n.2354C>T
 dbSNP gnomAD v4
9g.14842460G>CCA372960289FREM1c.1594C>G (p.Leu532Val)
n.2380C>G
c.1621C>G (p.Leu541Val)
c.1213C>G (p.Leu405Val)
c.697C>G (p.Leu233Val)
n.2407C>G
n.2410C>G
n.2354C>G
9g.14842460G=CA1835222377FREM1c.1594C= (p.Leu532=)
n.2380C=
c.1621C= (p.Leu541=)
c.1213C= (p.Leu405=)
c.697C= (p.Leu233=)
n.2407C=
n.2410C=
n.2354C=
9g.14842460G>TCA372960290FREM1c.1594C>A (p.Leu532Met)
n.2380C>A
c.1621C>A (p.Leu541Met)
c.1213C>A (p.Leu405Met)
c.697C>A (p.Leu233Met)
n.2407C>A
n.2410C>A
n.2354C>A
9g.14842461T>ACA372960291FREM1c.1593A>T (p.Glu531Asp)
n.2379A>T
c.1620A>T (p.Glu540Asp)
c.1212A>T (p.Glu404Asp)
c.696A>T (p.Glu232Asp)
n.2406A>T
n.2409A>T
n.2353A>T
9g.14842461T>CCA464024498FREM1c.1593A>G (p.Glu531=)
n.2379A>G
c.1620A>G (p.Glu540=)
c.1212A>G (p.Glu404=)
c.696A>G (p.Glu232=)
n.2406A>G
n.2409A>G
n.2353A>G
 gnomAD v4
9g.14842461T>GCA372960292FREM1c.1593A>C (p.Glu531Asp)
n.2379A>C
c.1620A>C (p.Glu540Asp)
c.1212A>C (p.Glu404Asp)
c.696A>C (p.Glu232Asp)
n.2406A>C
n.2409A>C
n.2353A>C
9g.14842462T>ACA372960293FREM1c.1592A>T (p.Glu531Val)
n.2378A>T
c.1619A>T (p.Glu540Val)
c.1211A>T (p.Glu404Val)
c.695A>T (p.Glu232Val)
n.2405A>T
n.2408A>T
n.2352A>T
9g.14842462T>CCA372960294FREM1c.1592A>G (p.Glu531Gly)
n.2378A>G
c.1619A>G (p.Glu540Gly)
c.1211A>G (p.Glu404Gly)
c.695A>G (p.Glu232Gly)
n.2405A>G
n.2408A>G
n.2352A>G
9g.14842462T>GCA372960295FREM1c.1592A>C (p.Glu531Ala)
n.2378A>C
c.1619A>C (p.Glu540Ala)
c.1211A>C (p.Glu404Ala)
c.695A>C (p.Glu232Ala)
n.2405A>C
n.2408A>C
n.2352A>C
9g.14842463C>ACA372960296FREM1c.1591G>T (p.Glu531Ter)
n.2377G>T
c.1618G>T (p.Glu540Ter)
c.1210G>T (p.Glu404Ter)
c.694G>T (p.Glu232Ter)
n.2404G>T
n.2407G>T
n.2351G>T
9g.14842463C>GCA372960297FREM1c.1591G>C (p.Glu531Gln)
n.2377G>C
c.1618G>C (p.Glu540Gln)
c.1210G>C (p.Glu404Gln)
c.694G>C (p.Glu232Gln)
n.2404G>C
n.2407G>C
n.2351G>C
9g.14842463C>TCA372960298FREM1c.1591G>A (p.Glu531Lys)
n.2377G>A
c.1618G>A (p.Glu540Lys)
c.1210G>A (p.Glu404Lys)
c.694G>A (p.Glu232Lys)
n.2404G>A
n.2407G>A
n.2351G>A
9g.14842464A=CA1835222378FREM1c.1590T= (p.Ile530=)
n.2376T=
c.1617T= (p.Ile539=)
c.1209T= (p.Ile403=)
c.693T= (p.Ile231=)
n.2403T=
n.2406T=
n.2350T=
9g.14842464A>CCA372960299FREM1c.1590T>G (p.Ile530Met)
n.2376T>G
c.1617T>G (p.Ile539Met)
c.1209T>G (p.Ile403Met)
c.693T>G (p.Ile231Met)
n.2403T>G
n.2406T>G
n.2350T>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842464A>GCA464024502FREM1c.1590T>C (p.Ile530=)
n.2376T>C
c.1617T>C (p.Ile539=)
c.1209T>C (p.Ile403=)
c.693T>C (p.Ile231=)
n.2403T>C
n.2406T>C
n.2350T>C
9g.14842464A>TCA464024503FREM1c.1590T>A (p.Ile530=)
n.2376T>A
c.1617T>A (p.Ile539=)
c.1209T>A (p.Ile403=)
c.693T>A (p.Ile231=)
n.2403T>A
n.2406T>A
n.2350T>A
9g.14842465A=CA1835222379FREM1c.1589T= (p.Ile530=)
n.2375T=
c.1616T= (p.Ile539=)
c.1208T= (p.Ile403=)
c.692T= (p.Ile231=)
n.2402T=
n.2405T=
n.2349T=
9g.14842465A>CCA372960301FREM1c.1589T>G (p.Ile530Ser)
n.2375T>G
c.1616T>G (p.Ile539Ser)
c.1208T>G (p.Ile403Ser)
c.692T>G (p.Ile231Ser)
n.2402T>G
n.2405T>G
n.2349T>G
 gnomAD v4
9g.14842465A>GCA189364188FREM1c.1589T>C (p.Ile530Thr)
n.2375T>C
c.1616T>C (p.Ile539Thr)
c.1208T>C (p.Ile403Thr)
c.692T>C (p.Ile231Thr)
n.2402T>C
n.2405T>C
n.2349T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842465A>TCA372960300FREM1c.1589T>A (p.Ile530Asn)
n.2375T>A
c.1616T>A (p.Ile539Asn)
c.1208T>A (p.Ile403Asn)
c.692T>A (p.Ile231Asn)
n.2402T>A
n.2405T>A
n.2349T>A
9g.14842466T>ACA372960302FREM1c.1588A>T (p.Ile530Phe)
n.2374A>T
c.1615A>T (p.Ile539Phe)
c.1207A>T (p.Ile403Phe)
c.691A>T (p.Ile231Phe)
n.2401A>T
n.2404A>T
n.2348A>T
9g.14842466T>CCA372960304FREM1c.1588A>G (p.Ile530Val)
n.2374A>G
c.1615A>G (p.Ile539Val)
c.1207A>G (p.Ile403Val)
c.691A>G (p.Ile231Val)
n.2401A>G
n.2404A>G
n.2348A>G
9g.14842466T>GCA372960303FREM1c.1588A>C (p.Ile530Leu)
n.2374A>C
c.1615A>C (p.Ile539Leu)
c.1207A>C (p.Ile403Leu)
c.691A>C (p.Ile231Leu)
n.2401A>C
n.2404A>C
n.2348A>C
9g.14842467C>ACA464024506FREM1c.1587G>T (p.Val529=)
n.2373G>T
c.1614G>T (p.Val538=)
c.1206G>T (p.Val402=)
c.690G>T (p.Val230=)
n.2400G>T
n.2403G>T
n.2347G>T
 gnomAD v4
9g.14842467C=CA1835222380FREM1c.1587G= (p.Val529=)
n.2373G=
c.1614G= (p.Val538=)
c.1206G= (p.Val402=)
c.690G= (p.Val230=)
n.2400G=
n.2403G=
n.2347G=
9g.14842467C>GCA464024507FREM1c.1587G>C (p.Val529=)
n.2373G>C
c.1614G>C (p.Val538=)
c.1206G>C (p.Val402=)
c.690G>C (p.Val230=)
n.2400G>C
n.2403G>C
n.2347G>C
 dbSNP gnomAD v3 gnomAD v4
9g.14842467C>TCA464024505FREM1c.1587G>A (p.Val529=)
n.2373G>A
c.1614G>A (p.Val538=)
c.1206G>A (p.Val402=)
c.690G>A (p.Val230=)
n.2400G>A
n.2403G>A
n.2347G>A
9g.14842468A>CCA372960305FREM1c.1586T>G (p.Val529Gly)
n.2372T>G
c.1613T>G (p.Val538Gly)
c.1205T>G (p.Val402Gly)
c.689T>G (p.Val230Gly)
n.2399T>G
n.2402T>G
n.2346T>G
9g.14842468A>GCA372960306FREM1c.1586T>C (p.Val529Ala)
n.2372T>C
c.1613T>C (p.Val538Ala)
c.1205T>C (p.Val402Ala)
c.689T>C (p.Val230Ala)
n.2399T>C
n.2402T>C
n.2346T>C
9g.14842468A>TCA372960307FREM1c.1586T>A (p.Val529Glu)
n.2372T>A
c.1613T>A (p.Val538Glu)
c.1205T>A (p.Val402Glu)
c.689T>A (p.Val230Glu)
n.2399T>A
n.2402T>A
n.2346T>A
 gnomAD v4
9g.14842468_14842469delinsACCA1835222381FREM1c.1585_1586delinsGT (p.Val529=)
n.2371_2372delinsGT
c.1612_1613delinsGT (p.Val538=)
c.1204_1205delinsGT (p.Val402=)
c.688_689delinsGT (p.Val230=)
n.2398_2399delinsGT
n.2401_2402delinsGT
n.2345_2346delinsGT
9g.14842469delCA586637837FREM1c.1585del (p.Val529Ter)
n.2371del
c.1612del (p.Val538Ter)
c.1204del (p.Val402Ter)
c.688del (p.Val230Ter)
n.2398del
n.2401del
n.2345del
 dbSNP gnomAD v2
9g.14842469C>ACA372960308FREM1c.1585G>T (p.Val529Leu)
n.2371G>T
c.1612G>T (p.Val538Leu)
c.1204G>T (p.Val402Leu)
c.688G>T (p.Val230Leu)
n.2398G>T
n.2401G>T
n.2345G>T
9g.14842469C>GCA372960309FREM1c.1585G>C (p.Val529Leu)
n.2371G>C
c.1612G>C (p.Val538Leu)
c.1204G>C (p.Val402Leu)
c.688G>C (p.Val230Leu)
n.2398G>C
n.2401G>C
n.2345G>C
9g.14842469C>TCA372960310FREM1c.1585G>A (p.Val529Met)
n.2371G>A
c.1612G>A (p.Val538Met)
c.1204G>A (p.Val402Met)
c.688G>A (p.Val230Met)
n.2398G>A
n.2401G>A
n.2345G>A
9g.14842470A>CCA464024513FREM1c.1584T>G (p.Val528=)
n.2370T>G
c.1611T>G (p.Val537=)
c.1203T>G (p.Val401=)
c.687T>G (p.Val229=)
n.2397T>G
n.2400T>G
n.2344T>G
9g.14842470A>GCA464024511FREM1c.1584T>C (p.Val528=)
n.2370T>C
c.1611T>C (p.Val537=)
c.1203T>C (p.Val401=)
c.687T>C (p.Val229=)
n.2397T>C
n.2400T>C
n.2344T>C
 gnomAD v4
9g.14842470A>TCA464024512FREM1c.1584T>A (p.Val528=)
n.2370T>A
c.1611T>A (p.Val537=)
c.1203T>A (p.Val401=)
c.687T>A (p.Val229=)
n.2397T>A
n.2400T>A
n.2344T>A
9g.14842471A>CCA372960313FREM1c.1583T>G (p.Val528Gly)
n.2369T>G
c.1610T>G (p.Val537Gly)
c.1202T>G (p.Val401Gly)
c.686T>G (p.Val229Gly)
n.2396T>G
n.2399T>G
n.2343T>G
9g.14842471A>GCA372960312FREM1c.1583T>C (p.Val528Ala)
n.2369T>C
c.1610T>C (p.Val537Ala)
c.1202T>C (p.Val401Ala)
c.686T>C (p.Val229Ala)
n.2396T>C
n.2399T>C
n.2343T>C
 gnomAD v4
9g.14842471A>TCA372960311FREM1c.1583T>A (p.Val528Asp)
n.2369T>A
c.1610T>A (p.Val537Asp)
c.1202T>A (p.Val401Asp)
c.686T>A (p.Val229Asp)
n.2396T>A
n.2399T>A
n.2343T>A
9g.14842472C>ACA372960314FREM1c.1582G>T (p.Val528Phe)
n.2368G>T
c.1609G>T (p.Val537Phe)
c.1201G>T (p.Val401Phe)
c.685G>T (p.Val229Phe)
n.2395G>T
n.2398G>T
n.2342G>T
9g.14842472C>GCA372960315FREM1c.1582G>C (p.Val528Leu)
n.2368G>C
c.1609G>C (p.Val537Leu)
c.1201G>C (p.Val401Leu)
c.685G>C (p.Val229Leu)
n.2395G>C
n.2398G>C
n.2342G>C
 gnomAD v4
9g.14842472C>TCA372960316FREM1c.1582G>A (p.Val528Ile)
n.2368G>A
c.1609G>A (p.Val537Ile)
c.1201G>A (p.Val401Ile)
c.685G>A (p.Val229Ile)
n.2395G>A
n.2398G>A
n.2342G>A
9g.14842473A=CA1835222382FREM1c.1581T= (p.Asn527=)
n.2367T=
c.1608T= (p.Asn536=)
c.1200T= (p.Asn400=)
c.684T= (p.Asn228=)
n.2394T=
n.2397T=
n.2341T=
9g.14842473A>CCA372960317FREM1c.1581T>G (p.Asn527Lys)
n.2367T>G
c.1608T>G (p.Asn536Lys)
c.1200T>G (p.Asn400Lys)
c.684T>G (p.Asn228Lys)
n.2394T>G
n.2397T>G
n.2341T>G
9g.14842473A>GCA4991189FREM1c.1581T>C (p.Asn527=)
n.2367T>C
c.1608T>C (p.Asn536=)
c.1200T>C (p.Asn400=)
c.684T>C (p.Asn228=)
n.2394T>C
n.2397T>C
n.2341T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842473A>TCA372960318FREM1c.1581T>A (p.Asn527Lys)
n.2367T>A
c.1608T>A (p.Asn536Lys)
c.1200T>A (p.Asn400Lys)
c.684T>A (p.Asn228Lys)
n.2394T>A
n.2397T>A
n.2341T>A
9g.14842474T>ACA372960319FREM1c.1580A>T (p.Asn527Ile)
n.2366A>T
c.1607A>T (p.Asn536Ile)
c.1199A>T (p.Asn400Ile)
c.683A>T (p.Asn228Ile)
n.2393A>T
n.2396A>T
n.2340A>T
9g.14842474T>CCA189364192FREM1c.1580A>G (p.Asn527Ser)
n.2366A>G
c.1607A>G (p.Asn536Ser)
c.1199A>G (p.Asn400Ser)
c.683A>G (p.Asn228Ser)
n.2393A>G
n.2396A>G
n.2340A>G
 dbSNP gnomAD v4
9g.14842474T>GCA4991190FREM1c.1580A>C (p.Asn527Thr)
n.2366A>C
c.1607A>C (p.Asn536Thr)
c.1199A>C (p.Asn400Thr)
c.683A>C (p.Asn228Thr)
n.2393A>C
n.2396A>C
n.2340A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842474T=CA1835222383FREM1c.1580A= (p.Asn527=)
n.2366A=
c.1607A= (p.Asn536=)
c.1199A= (p.Asn400=)
c.683A= (p.Asn228=)
n.2393A=
n.2396A=
n.2340A=
9g.14842475T>ACA372960320FREM1c.1579A>T (p.Asn527Tyr)
n.2365A>T
c.1606A>T (p.Asn536Tyr)
c.1198A>T (p.Asn400Tyr)
c.682A>T (p.Asn228Tyr)
n.2392A>T
n.2395A>T
n.2339A>T
9g.14842475T>CCA189364206FREM1c.1579A>G (p.Asn527Asp)
n.2365A>G
c.1606A>G (p.Asn536Asp)
c.1198A>G (p.Asn400Asp)
c.682A>G (p.Asn228Asp)
n.2392A>G
n.2395A>G
n.2339A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842475T>GCA372960321FREM1c.1579A>C (p.Asn527His)
n.2365A>C
c.1606A>C (p.Asn536His)
c.1198A>C (p.Asn400His)
c.682A>C (p.Asn228His)
n.2392A>C
n.2395A>C
n.2339A>C
9g.14842475T=CA1835222384FREM1c.1579A= (p.Asn527=)
n.2365A=
c.1606A= (p.Asn536=)
c.1198A= (p.Asn400=)
c.682A= (p.Asn228=)
n.2392A=
n.2395A=
n.2339A=
9g.14842476G>ACA464024516FREM1c.1578C>T (p.Thr526=)
n.2364C>T
c.1605C>T (p.Thr535=)
c.1197C>T (p.Thr399=)
c.681C>T (p.Thr227=)
n.2391C>T
n.2394C>T
n.2338C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842476G>CCA464024517FREM1c.1578C>G (p.Thr526=)
n.2364C>G
c.1605C>G (p.Thr535=)
c.1197C>G (p.Thr399=)
c.681C>G (p.Thr227=)
n.2391C>G
n.2394C>G
n.2338C>G
9g.14842476G=CA1835222385FREM1c.1578C= (p.Thr526=)
n.2364C=
c.1605C= (p.Thr535=)
c.1197C= (p.Thr399=)
c.681C= (p.Thr227=)
n.2391C=
n.2394C=
n.2338C=
9g.14842476G>TCA4991191FREM1c.1578C>A (p.Thr526=)
n.2364C>A
c.1605C>A (p.Thr535=)
c.1197C>A (p.Thr399=)
c.681C>A (p.Thr227=)
n.2391C>A
n.2394C>A
n.2338C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842477G>ACA372960322FREM1c.1577C>T (p.Thr526Ile)
n.2363C>T
c.1604C>T (p.Thr535Ile)
c.1196C>T (p.Thr399Ile)
c.680C>T (p.Thr227Ile)
n.2390C>T
n.2393C>T
n.2337C>T
 dbSNP gnomAD v4
9g.14842477G>CCA372960323FREM1c.1577C>G (p.Thr526Ser)
n.2363C>G
c.1604C>G (p.Thr535Ser)
c.1196C>G (p.Thr399Ser)
c.680C>G (p.Thr227Ser)
n.2390C>G
n.2393C>G
n.2337C>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842477G=CA1835222386FREM1c.1577C= (p.Thr526=)
n.2363C=
c.1604C= (p.Thr535=)
c.1196C= (p.Thr399=)
c.680C= (p.Thr227=)
n.2390C=
n.2393C=
n.2337C=
9g.14842477G>TCA372960324FREM1c.1577C>A (p.Thr526Asn)
n.2363C>A
c.1604C>A (p.Thr535Asn)
c.1196C>A (p.Thr399Asn)
c.680C>A (p.Thr227Asn)
n.2390C>A
n.2393C>A
n.2337C>A
9g.14842478T>ACA372960325FREM1c.1576A>T (p.Thr526Ser)
n.2362A>T
c.1603A>T (p.Thr535Ser)
c.1195A>T (p.Thr399Ser)
c.679A>T (p.Thr227Ser)
n.2389A>T
n.2392A>T
n.2336A>T
9g.14842478T>CCA372960326FREM1c.1576A>G (p.Thr526Ala)
n.2362A>G
c.1603A>G (p.Thr535Ala)
c.1195A>G (p.Thr399Ala)
c.679A>G (p.Thr227Ala)
n.2389A>G
n.2392A>G
n.2336A>G
9g.14842478T>GCA372960327FREM1c.1576A>C (p.Thr526Pro)
n.2362A>C
c.1603A>C (p.Thr535Pro)
c.1195A>C (p.Thr399Pro)
c.679A>C (p.Thr227Pro)
n.2389A>C
n.2392A>C
n.2336A>C
9g.14842479T>ACA464024522FREM1c.1575A>T (p.Ile525=)
n.2361A>T
c.1602A>T (p.Ile534=)
c.1194A>T (p.Ile398=)
c.678A>T (p.Ile226=)
n.2388A>T
n.2391A>T
n.2335A>T
9g.14842479T>CCA372960328FREM1c.1575A>G (p.Ile525Met)
n.2361A>G
c.1602A>G (p.Ile534Met)
c.1194A>G (p.Ile398Met)
c.678A>G (p.Ile226Met)
n.2388A>G
n.2391A>G
n.2335A>G
9g.14842479T>GCA464024523FREM1c.1575A>C (p.Ile525=)
n.2361A>C
c.1602A>C (p.Ile534=)
c.1194A>C (p.Ile398=)
c.678A>C (p.Ile226=)
n.2388A>C
n.2391A>C
n.2335A>C
9g.14842480A=CA1835222387FREM1c.1574T= (p.Ile525=)
n.2360T=
c.1601T= (p.Ile534=)
c.1193T= (p.Ile398=)
c.677T= (p.Ile226=)
n.2387T=
n.2390T=
n.2334T=
9g.14842480A>CCA372960329FREM1c.1574T>G (p.Ile525Arg)
n.2360T>G
c.1601T>G (p.Ile534Arg)
c.1193T>G (p.Ile398Arg)
c.677T>G (p.Ile226Arg)
n.2387T>G
n.2390T>G
n.2334T>G
9g.14842480A>GCA372960330FREM1c.1574T>C (p.Ile525Thr)
n.2360T>C
c.1601T>C (p.Ile534Thr)
c.1193T>C (p.Ile398Thr)
c.677T>C (p.Ile226Thr)
n.2387T>C
n.2390T>C
n.2334T>C
 gnomAD v4
9g.14842480A>TCA4991192FREM1c.1574T>A (p.Ile525Lys)
n.2360T>A
c.1601T>A (p.Ile534Lys)
c.1193T>A (p.Ile398Lys)
c.677T>A (p.Ile226Lys)
n.2387T>A
n.2390T>A
n.2334T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842481T>ACA372960331FREM1c.1573A>T (p.Ile525Leu)
n.2359A>T
c.1600A>T (p.Ile534Leu)
c.1192A>T (p.Ile398Leu)
c.676A>T (p.Ile226Leu)
n.2386A>T
n.2389A>T
n.2333A>T
 dbSNP gnomAD v2
9g.14842481T>CCA372960332FREM1c.1573A>G (p.Ile525Val)
n.2359A>G
c.1600A>G (p.Ile534Val)
c.1192A>G (p.Ile398Val)
c.676A>G (p.Ile226Val)
n.2386A>G
n.2389A>G
n.2333A>G
 gnomAD v4
9g.14842481T>GCA372960333FREM1c.1573A>C (p.Ile525Leu)
n.2359A>C
c.1600A>C (p.Ile534Leu)
c.1192A>C (p.Ile398Leu)
c.676A>C (p.Ile226Leu)
n.2386A>C
n.2389A>C
n.2333A>C
9g.14842481T=CA1835222388FREM1c.1573A= (p.Ile525=)
n.2359A=
c.1600A= (p.Ile534=)
c.1192A= (p.Ile398=)
c.676A= (p.Ile226=)
n.2386A=
n.2389A=
n.2333A=
9g.14842482G>ACA4991193FREM1c.1572C>T (p.Leu524=)
n.2358C>T
c.1599C>T (p.Leu533=)
c.1191C>T (p.Leu397=)
c.675C>T (p.Leu225=)
n.2385C>T
n.2388C>T
n.2332C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842482G>CCA464024576FREM1c.1572C>G (p.Leu524=)
n.2358C>G
c.1599C>G (p.Leu533=)
c.1191C>G (p.Leu397=)
c.675C>G (p.Leu225=)
n.2385C>G
n.2388C>G
n.2332C>G
9g.14842482G=CA1835222389FREM1c.1572C= (p.Leu524=)
n.2358C=
c.1599C= (p.Leu533=)
c.1191C= (p.Leu397=)
c.675C= (p.Leu225=)
n.2385C=
n.2388C=
n.2332C=
9g.14842482G>TCA464024578FREM1c.1572C>A (p.Leu524=)
n.2358C>A
c.1599C>A (p.Leu533=)
c.1191C>A (p.Leu397=)
c.675C>A (p.Leu225=)
n.2385C>A
n.2388C>A
n.2332C>A
9g.14842483A>CCA372960334FREM1c.1571T>G (p.Leu524Arg)
n.2357T>G
c.1598T>G (p.Leu533Arg)
c.1190T>G (p.Leu397Arg)
c.674T>G (p.Leu225Arg)
n.2384T>G
n.2387T>G
n.2331T>G
9g.14842483A>GCA372960335FREM1c.1571T>C (p.Leu524Pro)
n.2357T>C
c.1598T>C (p.Leu533Pro)
c.1190T>C (p.Leu397Pro)
c.674T>C (p.Leu225Pro)
n.2384T>C
n.2387T>C
n.2331T>C
9g.14842483A>TCA372960336FREM1c.1571T>A (p.Leu524His)
n.2357T>A
c.1598T>A (p.Leu533His)
c.1190T>A (p.Leu397His)
c.674T>A (p.Leu225His)
n.2384T>A
n.2387T>A
n.2331T>A
9g.14842484G>ACA372960337FREM1c.1570C>T (p.Leu524Phe)
n.2356C>T
c.1597C>T (p.Leu533Phe)
c.1189C>T (p.Leu397Phe)
c.673C>T (p.Leu225Phe)
n.2383C>T
n.2386C>T
n.2330C>T
 gnomAD v4
9g.14842484G>CCA4991194FREM1c.1570C>G (p.Leu524Val)
n.2356C>G
c.1597C>G (p.Leu533Val)
c.1189C>G (p.Leu397Val)
c.673C>G (p.Leu225Val)
n.2383C>G
n.2386C>G
n.2330C>G
 dbSNP ExAC gnomAD v2
9g.14842484G=CA1835222390FREM1c.1570C= (p.Leu524=)
n.2356C=
c.1597C= (p.Leu533=)
c.1189C= (p.Leu397=)
c.673C= (p.Leu225=)
n.2383C=
n.2386C=
n.2330C=
9g.14842484G>TCA372960338FREM1c.1570C>A (p.Leu524Ile)
n.2356C>A
c.1597C>A (p.Leu533Ile)
c.1189C>A (p.Leu397Ile)
c.673C>A (p.Leu225Ile)
n.2383C>A
n.2386C>A
n.2330C>A
 COSMIC
9g.14842485G>ACA464024579FREM1c.1569C>T (p.Phe523=)
n.2355C>T
c.1596C>T (p.Phe532=)
c.1188C>T (p.Phe396=)
c.672C>T (p.Phe224=)
n.2382C>T
n.2385C>T
n.2329C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842485G>CCA372960339FREM1c.1569C>G (p.Phe523Leu)
n.2355C>G
c.1596C>G (p.Phe532Leu)
c.1188C>G (p.Phe396Leu)
c.672C>G (p.Phe224Leu)
n.2382C>G
n.2385C>G
n.2329C>G
9g.14842485G=CA1835222391FREM1c.1569C= (p.Phe523=)
n.2355C=
c.1596C= (p.Phe532=)
c.1188C= (p.Phe396=)
c.672C= (p.Phe224=)
n.2382C=
n.2385C=
n.2329C=
9g.14842485G>TCA372960340FREM1c.1569C>A (p.Phe523Leu)
n.2355C>A
c.1596C>A (p.Phe532Leu)
c.1188C>A (p.Phe396Leu)
c.672C>A (p.Phe224Leu)
n.2382C>A
n.2385C>A
n.2329C>A
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
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched