Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.14842347C>ACA372959968FREM1c.1707G>T (p.Glu569Asp)
n.2493G>T
c.1734G>T (p.Glu578Asp)
c.1326G>T (p.Glu442Asp)
c.810G>T (p.Glu270Asp)
n.2520G>T
n.2523G>T
n.2467G>T
 gnomAD v4
9g.14842347C=CA1835222313FREM1c.1707G= (p.Glu569=)
n.2493G=
c.1734G= (p.Glu578=)
c.1326G= (p.Glu442=)
c.810G= (p.Glu270=)
n.2520G=
n.2523G=
n.2467G=
9g.14842347C>GCA372959966FREM1c.1707G>C (p.Glu569Asp)
n.2493G>C
c.1734G>C (p.Glu578Asp)
c.1326G>C (p.Glu442Asp)
c.810G>C (p.Glu270Asp)
n.2520G>C
n.2523G>C
n.2467G>C
9g.14842347C>TCA189364127FREM1c.1707G>A (p.Glu569=)
n.2493G>A
c.1734G>A (p.Glu578=)
c.1326G>A (p.Glu442=)
c.810G>A (p.Glu270=)
n.2520G>A
n.2523G>A
n.2467G>A
 dbSNP gnomAD v4
9g.14842348_14842355dupCA2579304632FREM1c.1700_1707dup (p.Ile570LeufsTer5)
n.2486_2493dup
c.1727_1734dup (p.Ile579LeufsTer5)
c.1319_1326dup (p.Ile443LeufsTer5)
c.803_810dup (p.Ile271LeufsTer5)
n.2513_2520dup
n.2516_2523dup
n.2460_2467dup
9g.14842348T>ACA372959969FREM1c.1706A>T (p.Glu569Val)
n.2492A>T
c.1733A>T (p.Glu578Val)
c.1325A>T (p.Glu442Val)
c.809A>T (p.Glu270Val)
n.2519A>T
n.2522A>T
n.2466A>T
9g.14842348T>CCA372959971FREM1c.1706A>G (p.Glu569Gly)
n.2492A>G
c.1733A>G (p.Glu578Gly)
c.1325A>G (p.Glu442Gly)
c.809A>G (p.Glu270Gly)
n.2519A>G
n.2522A>G
n.2466A>G
9g.14842348T>GCA372959972FREM1c.1706A>C (p.Glu569Ala)
n.2492A>C
c.1733A>C (p.Glu578Ala)
c.1325A>C (p.Glu442Ala)
c.809A>C (p.Glu270Ala)
n.2519A>C
n.2522A>C
n.2466A>C
9g.14842348_14842349delinsTCCA1835222314FREM1c.1705_1706delinsGA (p.Glu569=)
n.2491_2492delinsGA
c.1732_1733delinsGA (p.Glu578=)
c.1324_1325delinsGA (p.Glu442=)
c.808_809delinsGA (p.Glu270=)
n.2518_2519delinsGA
n.2521_2522delinsGA
n.2465_2466delinsGA
9g.14842349C>ACA372959975FREM1c.1705G>T (p.Glu569Ter)
n.2491G>T
c.1732G>T (p.Glu578Ter)
c.1324G>T (p.Glu442Ter)
c.808G>T (p.Glu270Ter)
n.2518G>T
n.2521G>T
n.2465G>T
9g.14842349C=CA1835222315FREM1c.1705G= (p.Glu569=)
n.2491G=
c.1732G= (p.Glu578=)
c.1324G= (p.Glu442=)
c.808G= (p.Glu270=)
n.2518G=
n.2521G=
n.2465G=
9g.14842349C>GCA372959976FREM1c.1705G>C (p.Glu569Gln)
n.2491G>C
c.1732G>C (p.Glu578Gln)
c.1324G>C (p.Glu442Gln)
c.808G>C (p.Glu270Gln)
n.2518G>C
n.2521G>C
n.2465G>C
9g.14842349C>TCA372959978FREM1c.1705G>A (p.Glu569Lys)
n.2491G>A
c.1732G>A (p.Glu578Lys)
c.1324G>A (p.Glu442Lys)
c.808G>A (p.Glu270Lys)
n.2518G>A
n.2521G>A
n.2465G>A
 dbSNP gnomAD v4 COSMIC
9g.14842352delCA586243398FREM1c.1705del (p.Glu569ArgfsTer3)
n.2491del
c.1732del (p.Glu578ArgfsTer3)
c.1324del (p.Glu442ArgfsTer3)
c.808del (p.Glu270ArgfsTer3)
n.2518del
n.2521del
n.2465del
 dbSNP gnomAD v2
9g.14842350C>ACA463877692FREM1c.1704G>T (p.Gly568=)
n.2490G>T
c.1731G>T (p.Gly577=)
c.1323G>T (p.Gly441=)
c.807G>T (p.Gly269=)
n.2517G>T
n.2520G>T
n.2464G>T
9g.14842350C=CA1835222316FREM1c.1704G= (p.Gly568=)
n.2490G=
c.1731G= (p.Gly577=)
c.1323G= (p.Gly441=)
c.807G= (p.Gly269=)
n.2517G=
n.2520G=
n.2464G=
9g.14842350C>GCA463877693FREM1c.1704G>C (p.Gly568=)
n.2490G>C
c.1731G>C (p.Gly577=)
c.1323G>C (p.Gly441=)
c.807G>C (p.Gly269=)
n.2517G>C
n.2520G>C
n.2464G>C
9g.14842350C>TCA463877694FREM1c.1704G>A (p.Gly568=)
n.2490G>A
c.1731G>A (p.Gly577=)
c.1323G>A (p.Gly441=)
c.807G>A (p.Gly269=)
n.2517G>A
n.2520G>A
n.2464G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.14842351C>ACA372959980FREM1c.1703G>T (p.Gly568Val)
n.2489G>T
c.1730G>T (p.Gly577Val)
c.1322G>T (p.Gly441Val)
c.806G>T (p.Gly269Val)
n.2516G>T
n.2519G>T
n.2463G>T
9g.14842351C>GCA372959983FREM1c.1703G>C (p.Gly568Ala)
n.2489G>C
c.1730G>C (p.Gly577Ala)
c.1322G>C (p.Gly441Ala)
c.806G>C (p.Gly269Ala)
n.2516G>C
n.2519G>C
n.2463G>C
9g.14842351C>TCA372959982FREM1c.1703G>A (p.Gly568Glu)
n.2489G>A
c.1730G>A (p.Gly577Glu)
c.1322G>A (p.Gly441Glu)
c.806G>A (p.Gly269Glu)
n.2516G>A
n.2519G>A
n.2463G>A
9g.14842352C>ACA372960056FREM1c.1702G>T (p.Gly568Trp)
n.2488G>T
c.1729G>T (p.Gly577Trp)
c.1321G>T (p.Gly441Trp)
c.805G>T (p.Gly269Trp)
n.2515G>T
n.2518G>T
n.2462G>T
9g.14842352C>GCA372960057FREM1c.1702G>C (p.Gly568Arg)
n.2488G>C
c.1729G>C (p.Gly577Arg)
c.1321G>C (p.Gly441Arg)
c.805G>C (p.Gly269Arg)
n.2515G>C
n.2518G>C
n.2462G>C
9g.14842352C>TCA372960058FREM1c.1702G>A (p.Gly568Arg)
n.2488G>A
c.1729G>A (p.Gly577Arg)
c.1321G>A (p.Gly441Arg)
c.805G>A (p.Gly269Arg)
n.2515G>A
n.2518G>A
n.2462G>A
9g.14842352_14842363delinsCAGCCTGTGGAGCA1835222317FREM1c.1691_1702delinsCTCCACAGGCTG (p.Pro564=)
n.2477_2488delinsCTCCACAGGCTG
c.1718_1729delinsCTCCACAGGCTG (p.Pro573=)
c.1310_1321delinsCTCCACAGGCTG (p.Pro437=)
c.794_805delinsCTCCACAGGCTG (p.Pro265=)
n.2504_2515delinsCTCCACAGGCTG
n.2507_2518delinsCTCCACAGGCTG
n.2451_2462delinsCTCCACAGGCTG
9g.14842353A=CA1835222318FREM1c.1701T= (p.Ala567=)
n.2487T=
c.1728T= (p.Ala576=)
c.1320T= (p.Ala440=)
c.804T= (p.Ala268=)
n.2514T=
n.2517T=
n.2461T=
9g.14842353A>CCA4991169FREM1c.1701T>G (p.Ala567=)
n.2487T>G
c.1728T>G (p.Ala576=)
c.1320T>G (p.Ala440=)
c.804T>G (p.Ala268=)
n.2514T>G
n.2517T>G
n.2461T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842353A>GCA464024320FREM1c.1701T>C (p.Ala567=)
n.2487T>C
c.1728T>C (p.Ala576=)
c.1320T>C (p.Ala440=)
c.804T>C (p.Ala268=)
n.2514T>C
n.2517T>C
n.2461T>C
9g.14842353A>TCA464024321FREM1c.1701T>A (p.Ala567=)
n.2487T>A
c.1728T>A (p.Ala576=)
c.1320T>A (p.Ala440=)
c.804T>A (p.Ala268=)
n.2514T>A
n.2517T>A
n.2461T>A
 gnomAD v4
9g.14842353_14842363delCA586637835FREM1c.1691_1701del (p.Pro564ArgfsTer26)
n.2477_2487del
c.1718_1728del (p.Pro573ArgfsTer26)
c.1310_1320del (p.Pro437ArgfsTer26)
c.794_804del (p.Pro265ArgfsTer26)
n.2504_2514del
n.2507_2517del
n.2451_2461del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842354G>ACA372960059FREM1c.1700C>T (p.Ala567Val)
n.2486C>T
c.1727C>T (p.Ala576Val)
c.1319C>T (p.Ala440Val)
c.803C>T (p.Ala268Val)
n.2513C>T
n.2516C>T
n.2460C>T
 gnomAD v4
9g.14842354G>CCA372960060FREM1c.1700C>G (p.Ala567Gly)
n.2486C>G
c.1727C>G (p.Ala576Gly)
c.1319C>G (p.Ala440Gly)
c.803C>G (p.Ala268Gly)
n.2513C>G
n.2516C>G
n.2460C>G
9g.14842354G>TCA372960061FREM1c.1700C>A (p.Ala567Asp)
n.2486C>A
c.1727C>A (p.Ala576Asp)
c.1319C>A (p.Ala440Asp)
c.803C>A (p.Ala268Asp)
n.2513C>A
n.2516C>A
n.2460C>A
9g.14842355C>ACA372960062FREM1c.1699G>T (p.Ala567Ser)
n.2485G>T
c.1726G>T (p.Ala576Ser)
c.1318G>T (p.Ala440Ser)
c.802G>T (p.Ala268Ser)
n.2512G>T
n.2515G>T
n.2459G>T
9g.14842355C>GCA372960063FREM1c.1699G>C (p.Ala567Pro)
n.2485G>C
c.1726G>C (p.Ala576Pro)
c.1318G>C (p.Ala440Pro)
c.802G>C (p.Ala268Pro)
n.2512G>C
n.2515G>C
n.2459G>C
9g.14842355C>TCA372960064FREM1c.1699G>A (p.Ala567Thr)
n.2485G>A
c.1726G>A (p.Ala576Thr)
c.1318G>A (p.Ala440Thr)
c.802G>A (p.Ala268Thr)
n.2512G>A
n.2515G>A
n.2459G>A
 gnomAD v4
9g.14842356C>ACA372960065FREM1c.1698G>T (p.Gln566His)
n.2484G>T
c.1725G>T (p.Gln575His)
c.1317G>T (p.Gln439His)
c.801G>T (p.Gln267His)
n.2511G>T
n.2514G>T
n.2458G>T
9g.14842356C>GCA372960066FREM1c.1698G>C (p.Gln566His)
n.2484G>C
c.1725G>C (p.Gln575His)
c.1317G>C (p.Gln439His)
c.801G>C (p.Gln267His)
n.2511G>C
n.2514G>C
n.2458G>C
9g.14842356C>TCA464024327FREM1c.1698G>A (p.Gln566=)
n.2484G>A
c.1725G>A (p.Gln575=)
c.1317G>A (p.Gln439=)
c.801G>A (p.Gln267=)
n.2511G>A
n.2514G>A
n.2458G>A
9g.14842357T>ACA372960068FREM1c.1697A>T (p.Gln566Leu)
n.2483A>T
c.1724A>T (p.Gln575Leu)
c.1316A>T (p.Gln439Leu)
c.800A>T (p.Gln267Leu)
n.2510A>T
n.2513A>T
n.2457A>T
9g.14842357T>CCA372960069FREM1c.1697A>G (p.Gln566Arg)
n.2483A>G
c.1724A>G (p.Gln575Arg)
c.1316A>G (p.Gln439Arg)
c.800A>G (p.Gln267Arg)
n.2510A>G
n.2513A>G
n.2457A>G
9g.14842357T>GCA372960067FREM1c.1697A>C (p.Gln566Pro)
n.2483A>C
c.1724A>C (p.Gln575Pro)
c.1316A>C (p.Gln439Pro)
c.800A>C (p.Gln267Pro)
n.2510A>C
n.2513A>C
n.2457A>C
9g.14842358G>ACA372960070FREM1c.1696C>T (p.Gln566Ter)
n.2482C>T
c.1723C>T (p.Gln575Ter)
c.1315C>T (p.Gln439Ter)
c.799C>T (p.Gln267Ter)
n.2509C>T
n.2512C>T
n.2456C>T
9g.14842358G>CCA372960072FREM1c.1696C>G (p.Gln566Glu)
n.2482C>G
c.1723C>G (p.Gln575Glu)
c.1315C>G (p.Gln439Glu)
c.799C>G (p.Gln267Glu)
n.2509C>G
n.2512C>G
n.2456C>G
9g.14842358G>TCA372960071FREM1c.1696C>A (p.Gln566Lys)
n.2482C>A
c.1723C>A (p.Gln575Lys)
c.1315C>A (p.Gln439Lys)
c.799C>A (p.Gln267Lys)
n.2509C>A
n.2512C>A
n.2456C>A
 ClinVar
9g.14842359T>ACA464024330FREM1c.1695A>T (p.Pro565=)
n.2481A>T
c.1722A>T (p.Pro574=)
c.1314A>T (p.Pro438=)
c.798A>T (p.Pro266=)
n.2508A>T
n.2511A>T
n.2455A>T
9g.14842359T>CCA464024332FREM1c.1695A>G (p.Pro565=)
n.2481A>G
c.1722A>G (p.Pro574=)
c.1314A>G (p.Pro438=)
c.798A>G (p.Pro266=)
n.2508A>G
n.2511A>G
n.2455A>G
9g.14842359T>GCA189364133FREM1c.1695A>C (p.Pro565=)
n.2481A>C
c.1722A>C (p.Pro574=)
c.1314A>C (p.Pro438=)
c.798A>C (p.Pro266=)
n.2508A>C
n.2511A>C
n.2455A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842359T=CA1835222319FREM1c.1695A= (p.Pro565=)
n.2481A=
c.1722A= (p.Pro574=)
c.1314A= (p.Pro438=)
c.798A= (p.Pro266=)
n.2508A=
n.2511A=
n.2455A=
9g.14842360G>ACA372960073FREM1c.1694C>T (p.Pro565Leu)
n.2480C>T
c.1721C>T (p.Pro574Leu)
c.1313C>T (p.Pro438Leu)
c.797C>T (p.Pro266Leu)
n.2507C>T
n.2510C>T
n.2454C>T
9g.14842360G>CCA372960075FREM1c.1694C>G (p.Pro565Arg)
n.2480C>G
c.1721C>G (p.Pro574Arg)
c.1313C>G (p.Pro438Arg)
c.797C>G (p.Pro266Arg)
n.2507C>G
n.2510C>G
n.2454C>G
9g.14842360G>TCA372960074FREM1c.1694C>A (p.Pro565Gln)
n.2480C>A
c.1721C>A (p.Pro574Gln)
c.1313C>A (p.Pro438Gln)
c.797C>A (p.Pro266Gln)
n.2507C>A
n.2510C>A
n.2454C>A
9g.14842361G>ACA372960076FREM1c.1693C>T (p.Pro565Ser)
n.2479C>T
c.1720C>T (p.Pro574Ser)
c.1312C>T (p.Pro438Ser)
c.796C>T (p.Pro266Ser)
n.2506C>T
n.2509C>T
n.2453C>T
 dbSNP gnomAD v4 COSMIC
9g.14842361G>CCA372960077FREM1c.1693C>G (p.Pro565Ala)
n.2479C>G
c.1720C>G (p.Pro574Ala)
c.1312C>G (p.Pro438Ala)
c.796C>G (p.Pro266Ala)
n.2506C>G
n.2509C>G
n.2453C>G
 gnomAD v4
9g.14842361G=CA1835222320FREM1c.1693C= (p.Pro565=)
n.2479C=
c.1720C= (p.Pro574=)
c.1312C= (p.Pro438=)
c.796C= (p.Pro266=)
n.2506C=
n.2509C=
n.2453C=
9g.14842361G>TCA372960078FREM1c.1693C>A (p.Pro565Thr)
n.2479C>A
c.1720C>A (p.Pro574Thr)
c.1312C>A (p.Pro438Thr)
c.796C>A (p.Pro266Thr)
n.2506C>A
n.2509C>A
n.2453C>A
9g.14842362A>CCA464024338FREM1c.1692T>G (p.Pro564=)
n.2478T>G
c.1719T>G (p.Pro573=)
c.1311T>G (p.Pro437=)
c.795T>G (p.Pro265=)
n.2505T>G
n.2508T>G
n.2452T>G
9g.14842362A>GCA464024339FREM1c.1692T>C (p.Pro564=)
n.2478T>C
c.1719T>C (p.Pro573=)
c.1311T>C (p.Pro437=)
c.795T>C (p.Pro265=)
n.2505T>C
n.2508T>C
n.2452T>C
9g.14842362A>TCA464024347FREM1c.1692T>A (p.Pro564=)
n.2478T>A
c.1719T>A (p.Pro573=)
c.1311T>A (p.Pro437=)
c.795T>A (p.Pro265=)
n.2505T>A
n.2508T>A
n.2452T>A
9g.14842363G>ACA189364145FREM1c.1691C>T (p.Pro564Leu)
n.2477C>T
c.1718C>T (p.Pro573Leu)
c.1310C>T (p.Pro437Leu)
c.794C>T (p.Pro265Leu)
n.2504C>T
n.2507C>T
n.2451C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842363G>CCA372960079FREM1c.1691C>G (p.Pro564Arg)
n.2477C>G
c.1718C>G (p.Pro573Arg)
c.1310C>G (p.Pro437Arg)
c.794C>G (p.Pro265Arg)
n.2504C>G
n.2507C>G
n.2451C>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842363G=CA1835222321FREM1c.1691C= (p.Pro564=)
n.2477C=
c.1718C= (p.Pro573=)
c.1310C= (p.Pro437=)
c.794C= (p.Pro265=)
n.2504C=
n.2507C=
n.2451C=
9g.14842363G>TCA4991170FREM1c.1691C>A (p.Pro564His)
n.2477C>A
c.1718C>A (p.Pro573His)
c.1310C>A (p.Pro437His)
c.794C>A (p.Pro265His)
n.2504C>A
n.2507C>A
n.2451C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842364G>ACA4991171FREM1c.1690C>T (p.Pro564Ser)
n.2476C>T
c.1717C>T (p.Pro573Ser)
c.1309C>T (p.Pro437Ser)
c.793C>T (p.Pro265Ser)
n.2503C>T
n.2506C>T
n.2450C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842364G>CCA372960080FREM1c.1690C>G (p.Pro564Ala)
n.2476C>G
c.1717C>G (p.Pro573Ala)
c.1309C>G (p.Pro437Ala)
c.793C>G (p.Pro265Ala)
n.2503C>G
n.2506C>G
n.2450C>G
 gnomAD v4
9g.14842364G=CA1835222322FREM1c.1690C= (p.Pro564=)
n.2476C=
c.1717C= (p.Pro573=)
c.1309C= (p.Pro437=)
c.793C= (p.Pro265=)
n.2503C=
n.2506C=
n.2450C=
9g.14842364G>TCA372960081FREM1c.1690C>A (p.Pro564Thr)
n.2476C>A
c.1717C>A (p.Pro573Thr)
c.1309C>A (p.Pro437Thr)
c.793C>A (p.Pro265Thr)
n.2503C>A
n.2506C>A
n.2450C>A
9g.14842365C>ACA372960082FREM1c.1689G>T (p.Lys563Asn)
n.2475G>T
c.1716G>T (p.Lys572Asn)
c.1308G>T (p.Lys436Asn)
c.792G>T (p.Lys264Asn)
n.2502G>T
n.2505G>T
n.2449G>T
9g.14842365C=CA1835222323FREM1c.1689G= (p.Lys563=)
n.2475G=
c.1716G= (p.Lys572=)
c.1308G= (p.Lys436=)
c.792G= (p.Lys264=)
n.2502G=
n.2505G=
n.2449G=
9g.14842365C>GCA372960083FREM1c.1689G>C (p.Lys563Asn)
n.2475G>C
c.1716G>C (p.Lys572Asn)
c.1308G>C (p.Lys436Asn)
c.792G>C (p.Lys264Asn)
n.2502G>C
n.2505G>C
n.2449G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842365C>TCA464024355FREM1c.1689G>A (p.Lys563=)
n.2475G>A
c.1716G>A (p.Lys572=)
c.1308G>A (p.Lys436=)
c.792G>A (p.Lys264=)
n.2502G>A
n.2505G>A
n.2449G>A
9g.14842366T>ACA372960086FREM1c.1688A>T (p.Lys563Met)
n.2474A>T
c.1715A>T (p.Lys572Met)
c.1307A>T (p.Lys436Met)
c.791A>T (p.Lys264Met)
n.2501A>T
n.2504A>T
n.2448A>T
9g.14842366T>CCA372960084FREM1c.1688A>G (p.Lys563Arg)
n.2474A>G
c.1715A>G (p.Lys572Arg)
c.1307A>G (p.Lys436Arg)
c.791A>G (p.Lys264Arg)
n.2501A>G
n.2504A>G
n.2448A>G
9g.14842366T>GCA372960085FREM1c.1688A>C (p.Lys563Thr)
n.2474A>C
c.1715A>C (p.Lys572Thr)
c.1307A>C (p.Lys436Thr)
c.791A>C (p.Lys264Thr)
n.2501A>C
n.2504A>C
n.2448A>C
9g.14842367T>ACA372960087FREM1c.1687A>T (p.Lys563Ter)
n.2473A>T
c.1714A>T (p.Lys572Ter)
c.1306A>T (p.Lys436Ter)
c.790A>T (p.Lys264Ter)
n.2500A>T
n.2503A>T
n.2447A>T
9g.14842367T>CCA189364161FREM1c.1687A>G (p.Lys563Glu)
n.2473A>G
c.1714A>G (p.Lys572Glu)
c.1306A>G (p.Lys436Glu)
c.790A>G (p.Lys264Glu)
n.2500A>G
n.2503A>G
n.2447A>G
 dbSNP gnomAD v4
9g.14842367T>GCA372960088FREM1c.1687A>C (p.Lys563Gln)
n.2473A>C
c.1714A>C (p.Lys572Gln)
c.1306A>C (p.Lys436Gln)
c.790A>C (p.Lys264Gln)
n.2500A>C
n.2503A>C
n.2447A>C
9g.14842367T=CA1835222324FREM1c.1687A= (p.Lys563=)
n.2473A=
c.1714A= (p.Lys572=)
c.1306A= (p.Lys436=)
c.790A= (p.Lys264=)
n.2500A=
n.2503A=
n.2447A=
9g.14842368T>ACA464024357FREM1c.1686A>T (p.Thr562=)
n.2472A>T
c.1713A>T (p.Thr571=)
c.1305A>T (p.Thr435=)
c.789A>T (p.Thr263=)
n.2499A>T
n.2502A>T
n.2446A>T
9g.14842368T>CCA464024359FREM1c.1686A>G (p.Thr562=)
n.2472A>G
c.1713A>G (p.Thr571=)
c.1305A>G (p.Thr435=)
c.789A>G (p.Thr263=)
n.2499A>G
n.2502A>G
n.2446A>G
9g.14842368T>GCA464024362FREM1c.1686A>C (p.Thr562=)
n.2472A>C
c.1713A>C (p.Thr571=)
c.1305A>C (p.Thr435=)
c.789A>C (p.Thr263=)
n.2499A>C
n.2502A>C
n.2446A>C
9g.14842369G>ACA372960089FREM1c.1685C>T (p.Thr562Ile)
n.2471C>T
c.1712C>T (p.Thr571Ile)
c.1304C>T (p.Thr435Ile)
c.788C>T (p.Thr263Ile)
n.2498C>T
n.2501C>T
n.2445C>T
 gnomAD v4
9g.14842369G>CCA372960090FREM1c.1685C>G (p.Thr562Arg)
n.2471C>G
c.1712C>G (p.Thr571Arg)
c.1304C>G (p.Thr435Arg)
c.788C>G (p.Thr263Arg)
n.2498C>G
n.2501C>G
n.2445C>G
9g.14842369G>TCA372960091FREM1c.1685C>A (p.Thr562Lys)
n.2471C>A
c.1712C>A (p.Thr571Lys)
c.1304C>A (p.Thr435Lys)
c.788C>A (p.Thr263Lys)
n.2498C>A
n.2501C>A
n.2445C>A
9g.14842370T>ACA372960092FREM1c.1684A>T (p.Thr562Ser)
n.2470A>T
c.1711A>T (p.Thr571Ser)
c.1303A>T (p.Thr435Ser)
c.787A>T (p.Thr263Ser)
n.2497A>T
n.2500A>T
n.2444A>T
9g.14842370T>CCA372960093FREM1c.1684A>G (p.Thr562Ala)
n.2470A>G
c.1711A>G (p.Thr571Ala)
c.1303A>G (p.Thr435Ala)
c.787A>G (p.Thr263Ala)
n.2497A>G
n.2500A>G
n.2444A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842370T>GCA372960094FREM1c.1684A>C (p.Thr562Pro)
n.2470A>C
c.1711A>C (p.Thr571Pro)
c.1303A>C (p.Thr435Pro)
c.787A>C (p.Thr263Pro)
n.2497A>C
n.2500A>C
n.2444A>C
9g.14842370T=CA1835222325FREM1c.1684A= (p.Thr562=)
n.2470A=
c.1711A= (p.Thr571=)
c.1303A= (p.Thr435=)
c.787A= (p.Thr263=)
n.2497A=
n.2500A=
n.2444A=
9g.14842371G>ACA464024366FREM1c.1683C>T (p.Ile561=)
n.2469C>T
c.1710C>T (p.Ile570=)
c.1302C>T (p.Ile434=)
c.786C>T (p.Ile262=)
n.2496C>T
n.2499C>T
n.2443C>T
 COSMIC
9g.14842371G>CCA372960095FREM1c.1683C>G (p.Ile561Met)
n.2469C>G
c.1710C>G (p.Ile570Met)
c.1302C>G (p.Ile434Met)
c.786C>G (p.Ile262Met)
n.2496C>G
n.2499C>G
n.2443C>G
9g.14842371G>TCA464024369FREM1c.1683C>A (p.Ile561=)
n.2469C>A
c.1710C>A (p.Ile570=)
c.1302C>A (p.Ile434=)
c.786C>A (p.Ile262=)
n.2496C>A
n.2499C>A
n.2443C>A
9g.14842372A>CCA372960097FREM1c.1682T>G (p.Ile561Ser)
n.2468T>G
c.1709T>G (p.Ile570Ser)
c.1301T>G (p.Ile434Ser)
c.785T>G (p.Ile262Ser)
n.2495T>G
n.2498T>G
n.2442T>G
9g.14842372A>GCA372960098FREM1c.1682T>C (p.Ile561Thr)
n.2468T>C
c.1709T>C (p.Ile570Thr)
c.1301T>C (p.Ile434Thr)
c.785T>C (p.Ile262Thr)
n.2495T>C
n.2498T>C
n.2442T>C
9g.14842372A>TCA372960096FREM1c.1682T>A (p.Ile561Asn)
n.2468T>A
c.1709T>A (p.Ile570Asn)
c.1301T>A (p.Ile434Asn)
c.785T>A (p.Ile262Asn)
n.2495T>A
n.2498T>A
n.2442T>A
9g.14842373T>ACA372960099FREM1c.1681A>T (p.Ile561Phe)
n.2467A>T
c.1708A>T (p.Ile570Phe)
c.1300A>T (p.Ile434Phe)
c.784A>T (p.Ile262Phe)
n.2494A>T
n.2497A>T
n.2441A>T
9g.14842373T>CCA372960100FREM1c.1681A>G (p.Ile561Val)
n.2467A>G
c.1708A>G (p.Ile570Val)
c.1300A>G (p.Ile434Val)
c.784A>G (p.Ile262Val)
n.2494A>G
n.2497A>G
n.2441A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842373T>GCA372960101FREM1c.1681A>C (p.Ile561Leu)
n.2467A>C
c.1708A>C (p.Ile570Leu)
c.1300A>C (p.Ile434Leu)
c.784A>C (p.Ile262Leu)
n.2494A>C
n.2497A>C
n.2441A>C
9g.14842373T=CA1835222326FREM1c.1681A= (p.Ile561=)
n.2467A=
c.1708A= (p.Ile570=)
c.1300A= (p.Ile434=)
c.784A= (p.Ile262=)
n.2494A=
n.2497A=
n.2441A=
9g.14842374A=CA1835222327FREM1c.1680T= (p.Asn560=)
n.2466T=
c.1707T= (p.Asn569=)
c.1299T= (p.Asn433=)
c.783T= (p.Asn261=)
n.2493T=
n.2496T=
n.2440T=
9g.14842374A>CCA372960102FREM1c.1680T>G (p.Asn560Lys)
n.2466T>G
c.1707T>G (p.Asn569Lys)
c.1299T>G (p.Asn433Lys)
c.783T>G (p.Asn261Lys)
n.2493T>G
n.2496T>G
n.2440T>G
9g.14842374A>GCA464024370FREM1c.1680T>C (p.Asn560=)
n.2466T>C
c.1707T>C (p.Asn569=)
c.1299T>C (p.Asn433=)
c.783T>C (p.Asn261=)
n.2493T>C
n.2496T>C
n.2440T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842374A>TCA372960103FREM1c.1680T>A (p.Asn560Lys)
n.2466T>A
c.1707T>A (p.Asn569Lys)
c.1299T>A (p.Asn433Lys)
c.783T>A (p.Asn261Lys)
n.2493T>A
n.2496T>A
n.2440T>A
9g.14842375T>ACA372960104FREM1c.1679A>T (p.Asn560Ile)
n.2465A>T
c.1706A>T (p.Asn569Ile)
c.1298A>T (p.Asn433Ile)
c.782A>T (p.Asn261Ile)
n.2492A>T
n.2495A>T
n.2439A>T
9g.14842375T>CCA372960105FREM1c.1679A>G (p.Asn560Ser)
n.2465A>G
c.1706A>G (p.Asn569Ser)
c.1298A>G (p.Asn433Ser)
c.782A>G (p.Asn261Ser)
n.2492A>G
n.2495A>G
n.2439A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842375T>GCA372960106FREM1c.1679A>C (p.Asn560Thr)
n.2465A>C
c.1706A>C (p.Asn569Thr)
c.1298A>C (p.Asn433Thr)
c.782A>C (p.Asn261Thr)
n.2492A>C
n.2495A>C
n.2439A>C
9g.14842375T=CA1835222328FREM1c.1679A= (p.Asn560=)
n.2465A=
c.1706A= (p.Asn569=)
c.1298A= (p.Asn433=)
c.782A= (p.Asn261=)
n.2492A=
n.2495A=
n.2439A=
9g.14842376T>ACA372960107FREM1c.1678A>T (p.Asn560Tyr)
n.2464A>T
c.1705A>T (p.Asn569Tyr)
c.1297A>T (p.Asn433Tyr)
c.781A>T (p.Asn261Tyr)
n.2491A>T
n.2494A>T
n.2438A>T
9g.14842376T>CCA372960108FREM1c.1678A>G (p.Asn560Asp)
n.2464A>G
c.1705A>G (p.Asn569Asp)
c.1297A>G (p.Asn433Asp)
c.781A>G (p.Asn261Asp)
n.2491A>G
n.2494A>G
n.2438A>G
9g.14842376T>GCA372960109FREM1c.1678A>C (p.Asn560His)
n.2464A>C
c.1705A>C (p.Asn569His)
c.1297A>C (p.Asn433His)
c.781A>C (p.Asn261His)
n.2491A>C
n.2494A>C
n.2438A>C
 dbSNP
9g.14842376T=CA1835222329FREM1c.1678A= (p.Asn560=)
n.2464A=
c.1705A= (p.Asn569=)
c.1297A= (p.Asn433=)
c.781A= (p.Asn261=)
n.2491A=
n.2494A=
n.2438A=
9g.14842377G>ACA464024378FREM1c.1677C>T (p.Phe559=)
n.2463C>T
c.1704C>T (p.Phe568=)
c.1296C>T (p.Phe432=)
c.780C>T (p.Phe260=)
n.2490C>T
n.2493C>T
n.2437C>T
9g.14842377G>CCA372960110FREM1c.1677C>G (p.Phe559Leu)
n.2463C>G
c.1704C>G (p.Phe568Leu)
c.1296C>G (p.Phe432Leu)
c.780C>G (p.Phe260Leu)
n.2490C>G
n.2493C>G
n.2437C>G
9g.14842377G>TCA372960111FREM1c.1677C>A (p.Phe559Leu)
n.2463C>A
c.1704C>A (p.Phe568Leu)
c.1296C>A (p.Phe432Leu)
c.780C>A (p.Phe260Leu)
n.2490C>A
n.2493C>A
n.2437C>A
9g.14842382_14842384delCA645564367FREM1c.1675_1677del (p.Phe559del)
n.2461_2463del
c.1702_1704del (p.Phe568del)
c.1294_1296del (p.Phe432del)
c.778_780del (p.Phe260del)
n.2488_2490del
n.2491_2493del
n.2435_2437del
 gnomAD v4 COSMIC
9g.14842378A>CCA372960114FREM1c.1676T>G (p.Phe559Cys)
n.2462T>G
c.1703T>G (p.Phe568Cys)
c.1295T>G (p.Phe432Cys)
c.779T>G (p.Phe260Cys)
n.2489T>G
n.2492T>G
n.2436T>G
9g.14842378A>GCA372960113FREM1c.1676T>C (p.Phe559Ser)
n.2462T>C
c.1703T>C (p.Phe568Ser)
c.1295T>C (p.Phe432Ser)
c.779T>C (p.Phe260Ser)
n.2489T>C
n.2492T>C
n.2436T>C
9g.14842378A>TCA372960112FREM1c.1676T>A (p.Phe559Tyr)
n.2462T>A
c.1703T>A (p.Phe568Tyr)
c.1295T>A (p.Phe432Tyr)
c.779T>A (p.Phe260Tyr)
n.2489T>A
n.2492T>A
n.2436T>A
9g.14842379A>CCA372960115FREM1c.1675T>G (p.Phe559Val)
n.2461T>G
c.1702T>G (p.Phe568Val)
c.1294T>G (p.Phe432Val)
c.778T>G (p.Phe260Val)
n.2488T>G
n.2491T>G
n.2435T>G
9g.14842379A>GCA372960116FREM1c.1675T>C (p.Phe559Leu)
n.2461T>C
c.1702T>C (p.Phe568Leu)
c.1294T>C (p.Phe432Leu)
c.778T>C (p.Phe260Leu)
n.2488T>C
n.2491T>C
n.2435T>C
 gnomAD v4
9g.14842379A>TCA372960117FREM1c.1675T>A (p.Phe559Ile)
n.2461T>A
c.1702T>A (p.Phe568Ile)
c.1294T>A (p.Phe432Ile)
c.778T>A (p.Phe260Ile)
n.2488T>A
n.2491T>A
n.2435T>A
9g.14842380G>ACA464024382FREM1c.1674C>T (p.Phe558=)
n.2460C>T
c.1701C>T (p.Phe567=)
c.1293C>T (p.Phe431=)
c.777C>T (p.Phe259=)
n.2487C>T
n.2490C>T
n.2434C>T
 gnomAD v4
9g.14842380G>CCA372960118FREM1c.1674C>G (p.Phe558Leu)
n.2460C>G
c.1701C>G (p.Phe567Leu)
c.1293C>G (p.Phe431Leu)
c.777C>G (p.Phe259Leu)
n.2487C>G
n.2490C>G
n.2434C>G
9g.14842380G>TCA372960119FREM1c.1674C>A (p.Phe558Leu)
n.2460C>A
c.1701C>A (p.Phe567Leu)
c.1293C>A (p.Phe431Leu)
c.777C>A (p.Phe259Leu)
n.2487C>A
n.2490C>A
n.2434C>A
9g.14842381A>CCA372960120FREM1c.1673T>G (p.Phe558Cys)
n.2459T>G
c.1700T>G (p.Phe567Cys)
c.1292T>G (p.Phe431Cys)
c.776T>G (p.Phe259Cys)
n.2486T>G
n.2489T>G
n.2433T>G
9g.14842381A>GCA372960121FREM1c.1673T>C (p.Phe558Ser)
n.2459T>C
c.1700T>C (p.Phe567Ser)
c.1292T>C (p.Phe431Ser)
c.776T>C (p.Phe259Ser)
n.2486T>C
n.2489T>C
n.2433T>C
9g.14842381A>TCA372960122FREM1c.1673T>A (p.Phe558Tyr)
n.2459T>A
c.1700T>A (p.Phe567Tyr)
c.1292T>A (p.Phe431Tyr)
c.776T>A (p.Phe259Tyr)
n.2486T>A
n.2489T>A
n.2433T>A
9g.14842382A=CA1835222330FREM1c.1672T= (p.Phe558=)
n.2458T=
c.1699T= (p.Phe567=)
c.1291T= (p.Phe431=)
c.775T= (p.Phe259=)
n.2485T=
n.2488T=
n.2432T=
9g.14842382A>CCA372960123FREM1c.1672T>G (p.Phe558Val)
n.2458T>G
c.1699T>G (p.Phe567Val)
c.1291T>G (p.Phe431Val)
c.775T>G (p.Phe259Val)
n.2485T>G
n.2488T>G
n.2432T>G
 dbSNP gnomAD v4
9g.14842382A>GCA372960124FREM1c.1672T>C (p.Phe558Leu)
n.2458T>C
c.1699T>C (p.Phe567Leu)
c.1291T>C (p.Phe431Leu)
c.775T>C (p.Phe259Leu)
n.2485T>C
n.2488T>C
n.2432T>C
9g.14842382A>TCA372960125FREM1c.1672T>A (p.Phe558Ile)
n.2458T>A
c.1699T>A (p.Phe567Ile)
c.1291T>A (p.Phe431Ile)
c.775T>A (p.Phe259Ile)
n.2485T>A
n.2488T>A
n.2432T>A
9g.14842383G>ACA464024392FREM1c.1671C>T (p.Ile557=)
n.2457C>T
c.1698C>T (p.Ile566=)
c.1290C>T (p.Ile430=)
c.774C>T (p.Ile258=)
n.2484C>T
n.2487C>T
n.2431C>T
9g.14842383G>CCA189364163FREM1c.1671C>G (p.Ile557Met)
n.2457C>G
c.1698C>G (p.Ile566Met)
c.1290C>G (p.Ile430Met)
c.774C>G (p.Ile258Met)
n.2484C>G
n.2487C>G
n.2431C>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842383G=CA1835222331FREM1c.1671C= (p.Ile557=)
n.2457C=
c.1698C= (p.Ile566=)
c.1290C= (p.Ile430=)
c.774C= (p.Ile258=)
n.2484C=
n.2487C=
n.2431C=
9g.14842383G>TCA464024394FREM1c.1671C>A (p.Ile557=)
n.2457C>A
c.1698C>A (p.Ile566=)
c.1290C>A (p.Ile430=)
c.774C>A (p.Ile258=)
n.2484C>A
n.2487C>A
n.2431C>A
 dbSNP
9g.14842384A=CA1835222332FREM1c.1670T= (p.Ile557=)
n.2456T=
c.1697T= (p.Ile566=)
c.1289T= (p.Ile430=)
c.773T= (p.Ile258=)
n.2483T=
n.2486T=
n.2430T=
9g.14842384A>CCA372960128FREM1c.1670T>G (p.Ile557Ser)
n.2456T>G
c.1697T>G (p.Ile566Ser)
c.1289T>G (p.Ile430Ser)
c.773T>G (p.Ile258Ser)
n.2483T>G
n.2486T>G
n.2430T>G
9g.14842384A>GCA372960127FREM1c.1670T>C (p.Ile557Thr)
n.2456T>C
c.1697T>C (p.Ile566Thr)
c.1289T>C (p.Ile430Thr)
c.773T>C (p.Ile258Thr)
n.2483T>C
n.2486T>C
n.2430T>C
9g.14842384A>TCA372960126FREM1c.1670T>A (p.Ile557Asn)
n.2456T>A
c.1697T>A (p.Ile566Asn)
c.1289T>A (p.Ile430Asn)
c.773T>A (p.Ile258Asn)
n.2483T>A
n.2486T>A
n.2430T>A
 dbSNP
9g.14842385T>ACA372960129FREM1c.1669A>T (p.Ile557Phe)
n.2455A>T
c.1696A>T (p.Ile566Phe)
c.1288A>T (p.Ile430Phe)
c.772A>T (p.Ile258Phe)
n.2482A>T
n.2485A>T
n.2429A>T
9g.14842385T>CCA372960131FREM1c.1669A>G (p.Ile557Val)
n.2455A>G
c.1696A>G (p.Ile566Val)
c.1288A>G (p.Ile430Val)
c.772A>G (p.Ile258Val)
n.2482A>G
n.2485A>G
n.2429A>G
 gnomAD v4
9g.14842385T>GCA372960130FREM1c.1669A>C (p.Ile557Leu)
n.2455A>C
c.1696A>C (p.Ile566Leu)
c.1288A>C (p.Ile430Leu)
c.772A>C (p.Ile258Leu)
n.2482A>C
n.2485A>C
n.2429A>C
9g.14842386G>ACA464024403FREM1c.1668C>T (p.Tyr556=)
n.2454C>T
c.1695C>T (p.Tyr565=)
c.1287C>T (p.Tyr429=)
c.771C>T (p.Tyr257=)
n.2481C>T
n.2484C>T
n.2428C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.14842386G>CCA372960132FREM1c.1668C>G (p.Tyr556Ter)
n.2454C>G
c.1695C>G (p.Tyr565Ter)
c.1287C>G (p.Tyr429Ter)
c.771C>G (p.Tyr257Ter)
n.2481C>G
n.2484C>G
n.2428C>G
9g.14842386G=CA1835222333FREM1c.1668C= (p.Tyr556=)
n.2454C=
c.1695C= (p.Tyr565=)
c.1287C= (p.Tyr429=)
c.771C= (p.Tyr257=)
n.2481C=
n.2484C=
n.2428C=
9g.14842386G>TCA372960133FREM1c.1668C>A (p.Tyr556Ter)
n.2454C>A
c.1695C>A (p.Tyr565Ter)
c.1287C>A (p.Tyr429Ter)
c.771C>A (p.Tyr257Ter)
n.2481C>A
n.2484C>A
n.2428C>A
9g.14842387T>ACA372960134FREM1c.1667A>T (p.Tyr556Phe)
n.2453A>T
c.1694A>T (p.Tyr565Phe)
c.1286A>T (p.Tyr429Phe)
c.770A>T (p.Tyr257Phe)
n.2480A>T
n.2483A>T
n.2427A>T
9g.14842387T>CCA372960135FREM1c.1667A>G (p.Tyr556Cys)
n.2453A>G
c.1694A>G (p.Tyr565Cys)
c.1286A>G (p.Tyr429Cys)
c.770A>G (p.Tyr257Cys)
n.2480A>G
n.2483A>G
n.2427A>G
9g.14842387T>GCA372960136FREM1c.1667A>C (p.Tyr556Ser)
n.2453A>C
c.1694A>C (p.Tyr565Ser)
c.1286A>C (p.Tyr429Ser)
c.770A>C (p.Tyr257Ser)
n.2480A>C
n.2483A>C
n.2427A>C
9g.14842388A=CA1835222334FREM1c.1666T= (p.Tyr556=)
n.2452T=
c.1693T= (p.Tyr565=)
c.1285T= (p.Tyr429=)
c.769T= (p.Tyr257=)
n.2479T=
n.2482T=
n.2426T=
9g.14842388A>CCA372960137FREM1c.1666T>G (p.Tyr556Asp)
n.2452T>G
c.1693T>G (p.Tyr565Asp)
c.1285T>G (p.Tyr429Asp)
c.769T>G (p.Tyr257Asp)
n.2479T>G
n.2482T>G
n.2426T>G
 gnomAD v4
9g.14842388A>GCA4991172FREM1c.1666T>C (p.Tyr556His)
n.2452T>C
c.1693T>C (p.Tyr565His)
c.1285T>C (p.Tyr429His)
c.769T>C (p.Tyr257His)
n.2479T>C
n.2482T>C
n.2426T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842388A>TCA372960138FREM1c.1666T>A (p.Tyr556Asn)
n.2452T>A
c.1693T>A (p.Tyr565Asn)
c.1285T>A (p.Tyr429Asn)
c.769T>A (p.Tyr257Asn)
n.2479T>A
n.2482T>A
n.2426T>A
9g.14842389G>ACA4991173FREM1c.1665C>T (p.Asp555=)
n.2451C>T
c.1692C>T (p.Asp564=)
c.1284C>T (p.Asp428=)
c.768C>T (p.Asp256=)
n.2478C>T
n.2481C>T
n.2425C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842389G>CCA372960139FREM1c.1665C>G (p.Asp555Glu)
n.2451C>G
c.1692C>G (p.Asp564Glu)
c.1284C>G (p.Asp428Glu)
c.768C>G (p.Asp256Glu)
n.2478C>G
n.2481C>G
n.2425C>G
9g.14842389G=CA1835222335FREM1c.1665C= (p.Asp555=)
n.2451C=
c.1692C= (p.Asp564=)
c.1284C= (p.Asp428=)
c.768C= (p.Asp256=)
n.2478C=
n.2481C=
n.2425C=
9g.14842389G>TCA372960140FREM1c.1665C>A (p.Asp555Glu)
n.2451C>A
c.1692C>A (p.Asp564Glu)
c.1284C>A (p.Asp428Glu)
c.768C>A (p.Asp256Glu)
n.2478C>A
n.2481C>A
n.2425C>A
9g.14842390T>ACA372960143FREM1c.1664A>T (p.Asp555Val)
n.2450A>T
c.1691A>T (p.Asp564Val)
c.1283A>T (p.Asp428Val)
c.767A>T (p.Asp256Val)
n.2477A>T
n.2480A>T
n.2424A>T
9g.14842390T>CCA372960142FREM1c.1664A>G (p.Asp555Gly)
n.2450A>G
c.1691A>G (p.Asp564Gly)
c.1283A>G (p.Asp428Gly)
c.767A>G (p.Asp256Gly)
n.2477A>G
n.2480A>G
n.2424A>G
 dbSNP gnomAD v3 gnomAD v4
9g.14842390T>GCA372960141FREM1c.1664A>C (p.Asp555Ala)
n.2450A>C
c.1691A>C (p.Asp564Ala)
c.1283A>C (p.Asp428Ala)
c.767A>C (p.Asp256Ala)
n.2477A>C
n.2480A>C
n.2424A>C
9g.14842390T=CA1835222336FREM1c.1664A= (p.Asp555=)
n.2450A=
c.1691A= (p.Asp564=)
c.1283A= (p.Asp428=)
c.767A= (p.Asp256=)
n.2477A=
n.2480A=
n.2424A=
9g.14842391C>ACA372960144FREM1c.1663G>T (p.Asp555Tyr)
n.2449G>T
c.1690G>T (p.Asp564Tyr)
c.1282G>T (p.Asp428Tyr)
c.766G>T (p.Asp256Tyr)
n.2476G>T
n.2479G>T
n.2423G>T
9g.14842391C=CA1835222337FREM1c.1663G= (p.Asp555=)
n.2449G=
c.1690G= (p.Asp564=)
c.1282G= (p.Asp428=)
c.766G= (p.Asp256=)
n.2476G=
n.2479G=
n.2423G=
9g.14842391C>GCA372960145FREM1c.1663G>C (p.Asp555His)
n.2449G>C
c.1690G>C (p.Asp564His)
c.1282G>C (p.Asp428His)
c.766G>C (p.Asp256His)
n.2476G>C
n.2479G>C
n.2423G>C
9g.14842391C>TCA4991174FREM1c.1663G>A (p.Asp555Asn)
n.2449G>A
c.1690G>A (p.Asp564Asn)
c.1282G>A (p.Asp428Asn)
c.766G>A (p.Asp256Asn)
n.2476G>A
n.2479G>A
n.2423G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842392A=CA1835222338FREM1c.1662T= (p.Asp554=)
n.2448T=
c.1689T= (p.Asp563=)
c.1281T= (p.Asp427=)
c.765T= (p.Asp255=)
n.2475T=
n.2478T=
n.2422T=
9g.14842392A>CCA372960146FREM1c.1662T>G (p.Asp554Glu)
n.2448T>G
c.1689T>G (p.Asp563Glu)
c.1281T>G (p.Asp427Glu)
c.765T>G (p.Asp255Glu)
n.2475T>G
n.2478T>G
n.2422T>G
9g.14842392A>GCA4991175FREM1c.1662T>C (p.Asp554=)
n.2448T>C
c.1689T>C (p.Asp563=)
c.1281T>C (p.Asp427=)
c.765T>C (p.Asp255=)
n.2475T>C
n.2478T>C
n.2422T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842392A>TCA372960147FREM1c.1662T>A (p.Asp554Glu)
n.2448T>A
c.1689T>A (p.Asp563Glu)
c.1281T>A (p.Asp427Glu)
c.765T>A (p.Asp255Glu)
n.2475T>A
n.2478T>A
n.2422T>A
9g.14842393T>ACA372960148FREM1c.1661A>T (p.Asp554Val)
n.2447A>T
c.1688A>T (p.Asp563Val)
c.1280A>T (p.Asp427Val)
c.764A>T (p.Asp255Val)
n.2474A>T
n.2477A>T
n.2421A>T
 ClinVar
9g.14842393T>CCA372960149FREM1c.1661A>G (p.Asp554Gly)
n.2447A>G
c.1688A>G (p.Asp563Gly)
c.1280A>G (p.Asp427Gly)
c.764A>G (p.Asp255Gly)
n.2474A>G
n.2477A>G
n.2421A>G
 dbSNP gnomAD v2 gnomAD v4
9g.14842393T>GCA372960150FREM1c.1661A>C (p.Asp554Ala)
n.2447A>C
c.1688A>C (p.Asp563Ala)
c.1280A>C (p.Asp427Ala)
c.764A>C (p.Asp255Ala)
n.2474A>C
n.2477A>C
n.2421A>C
 dbSNP gnomAD v2 gnomAD v4
9g.14842393T=CA1835222339FREM1c.1661A= (p.Asp554=)
n.2447A=
c.1688A= (p.Asp563=)
c.1280A= (p.Asp427=)
c.764A= (p.Asp255=)
n.2474A=
n.2477A=
n.2421A=
9g.14842394C>ACA372960151FREM1c.1660G>T (p.Asp554Tyr)
n.2446G>T
c.1687G>T (p.Asp563Tyr)
c.1279G>T (p.Asp427Tyr)
c.763G>T (p.Asp255Tyr)
n.2473G>T
n.2476G>T
n.2420G>T
9g.14842394C>GCA372960152FREM1c.1660G>C (p.Asp554His)
n.2446G>C
c.1687G>C (p.Asp563His)
c.1279G>C (p.Asp427His)
c.763G>C (p.Asp255His)
n.2473G>C
n.2476G>C
n.2420G>C
9g.14842394C>TCA372960153FREM1c.1660G>A (p.Asp554Asn)
n.2446G>A
c.1687G>A (p.Asp563Asn)
c.1279G>A (p.Asp427Asn)
c.763G>A (p.Asp255Asn)
n.2473G>A
n.2476G>A
n.2420G>A
 gnomAD v4 COSMIC
9g.14842395A>CCA372960155FREM1c.1659T>G (p.Ser553Arg)
n.2445T>G
c.1686T>G (p.Ser562Arg)
c.1278T>G (p.Ser426Arg)
c.762T>G (p.Ser254Arg)
n.2472T>G
n.2475T>G
n.2419T>G
9g.14842395A>GCA464024412FREM1c.1659T>C (p.Ser553=)
n.2445T>C
c.1686T>C (p.Ser562=)
c.1278T>C (p.Ser426=)
c.762T>C (p.Ser254=)
n.2472T>C
n.2475T>C
n.2419T>C
9g.14842395A>TCA372960154FREM1c.1659T>A (p.Ser553Arg)
n.2445T>A
c.1686T>A (p.Ser562Arg)
c.1278T>A (p.Ser426Arg)
c.762T>A (p.Ser254Arg)
n.2472T>A
n.2475T>A
n.2419T>A
9g.14842396C>ACA372960156FREM1c.1658G>T (p.Ser553Ile)
n.2444G>T
c.1685G>T (p.Ser562Ile)
c.1277G>T (p.Ser426Ile)
c.761G>T (p.Ser254Ile)
n.2471G>T
n.2474G>T
n.2418G>T
9g.14842396C>GCA372960157FREM1c.1658G>C (p.Ser553Thr)
n.2444G>C
c.1685G>C (p.Ser562Thr)
c.1277G>C (p.Ser426Thr)
c.761G>C (p.Ser254Thr)
n.2471G>C
n.2474G>C
n.2418G>C
9g.14842396C>TCA372960158FREM1c.1658G>A (p.Ser553Asn)
n.2444G>A
c.1685G>A (p.Ser562Asn)
c.1277G>A (p.Ser426Asn)
c.761G>A (p.Ser254Asn)
n.2471G>A
n.2474G>A
n.2418G>A
9g.14842397T>ACA372960159FREM1c.1657A>T (p.Ser553Cys)
n.2443A>T
c.1684A>T (p.Ser562Cys)
c.1276A>T (p.Ser426Cys)
c.760A>T (p.Ser254Cys)
n.2470A>T
n.2473A>T
n.2417A>T
9g.14842397T>CCA372960160FREM1c.1657A>G (p.Ser553Gly)
n.2443A>G
c.1684A>G (p.Ser562Gly)
c.1276A>G (p.Ser426Gly)
c.760A>G (p.Ser254Gly)
n.2470A>G
n.2473A>G
n.2417A>G
9g.14842397T>GCA372960161FREM1c.1657A>C (p.Ser553Arg)
n.2443A>C
c.1684A>C (p.Ser562Arg)
c.1276A>C (p.Ser426Arg)
c.760A>C (p.Ser254Arg)
n.2470A>C
n.2473A>C
n.2417A>C
9g.14842398G>ACA464024415FREM1c.1656C>T (p.Ala552=)
n.2442C>T
c.1683C>T (p.Ala561=)
c.1275C>T (p.Ala425=)
c.759C>T (p.Ala253=)
n.2469C>T
n.2472C>T
n.2416C>T
9g.14842398G>CCA464024418FREM1c.1656C>G (p.Ala552=)
n.2442C>G
c.1683C>G (p.Ala561=)
c.1275C>G (p.Ala425=)
c.759C>G (p.Ala253=)
n.2469C>G
n.2472C>G
n.2416C>G
9g.14842398G>TCA464024422FREM1c.1656C>A (p.Ala552=)
n.2442C>A
c.1683C>A (p.Ala561=)
c.1275C>A (p.Ala425=)
c.759C>A (p.Ala253=)
n.2469C>A
n.2472C>A
n.2416C>A
9g.14842399G>ACA372960164FREM1c.1655C>T (p.Ala552Val)
n.2441C>T
c.1682C>T (p.Ala561Val)
c.1274C>T (p.Ala425Val)
c.758C>T (p.Ala253Val)
n.2468C>T
n.2471C>T
n.2415C>T
 dbSNP gnomAD v3 gnomAD v4
9g.14842399G>CCA372960163FREM1c.1655C>G (p.Ala552Gly)
n.2441C>G
c.1682C>G (p.Ala561Gly)
c.1274C>G (p.Ala425Gly)
c.758C>G (p.Ala253Gly)
n.2468C>G
n.2471C>G
n.2415C>G
9g.14842399G=CA1835222340FREM1c.1655C= (p.Ala552=)
n.2441C=
c.1682C= (p.Ala561=)
c.1274C= (p.Ala425=)
c.758C= (p.Ala253=)
n.2468C=
n.2471C=
n.2415C=
9g.14842399G>TCA372960162FREM1c.1655C>A (p.Ala552Asp)
n.2441C>A
c.1682C>A (p.Ala561Asp)
c.1274C>A (p.Ala425Asp)
c.758C>A (p.Ala253Asp)
n.2468C>A
n.2471C>A
n.2415C>A
9g.14842400C>ACA372960165FREM1c.1654G>T (p.Ala552Ser)
n.2440G>T
c.1681G>T (p.Ala561Ser)
c.1273G>T (p.Ala425Ser)
c.757G>T (p.Ala253Ser)
n.2467G>T
n.2470G>T
n.2414G>T
 dbSNP
9g.14842400C=CA1835222341FREM1c.1654G= (p.Ala552=)
n.2440G=
c.1681G= (p.Ala561=)
c.1273G= (p.Ala425=)
c.757G= (p.Ala253=)
n.2467G=
n.2470G=
n.2414G=
9g.14842400C>GCA372960166FREM1c.1654G>C (p.Ala552Pro)
n.2440G>C
c.1681G>C (p.Ala561Pro)
c.1273G>C (p.Ala425Pro)
c.757G>C (p.Ala253Pro)
n.2467G>C
n.2470G>C
n.2414G>C
9g.14842400C>TCA4991176FREM1c.1654G>A (p.Ala552Thr)
n.2440G>A
c.1681G>A (p.Ala561Thr)
c.1273G>A (p.Ala425Thr)
c.757G>A (p.Ala253Thr)
n.2467G>A
n.2470G>A
n.2414G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842401G>ACA4991177FREM1c.1653C>T (p.Asp551=)
n.2439C>T
c.1680C>T (p.Asp560=)
c.1272C>T (p.Asp424=)
c.756C>T (p.Asp252=)
n.2466C>T
n.2469C>T
n.2413C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.14842401G>CCA372960167FREM1c.1653C>G (p.Asp551Glu)
n.2439C>G
c.1680C>G (p.Asp560Glu)
c.1272C>G (p.Asp424Glu)
c.756C>G (p.Asp252Glu)
n.2466C>G
n.2469C>G
n.2413C>G
9g.14842401G=CA1835222342FREM1c.1653C= (p.Asp551=)
n.2439C=
c.1680C= (p.Asp560=)
c.1272C= (p.Asp424=)
c.756C= (p.Asp252=)
n.2466C=
n.2469C=
n.2413C=
9g.14842401G>TCA372960168FREM1c.1653C>A (p.Asp551Glu)
n.2439C>A
c.1680C>A (p.Asp560Glu)
c.1272C>A (p.Asp424Glu)
c.756C>A (p.Asp252Glu)
n.2466C>A
n.2469C>A
n.2413C>A
9g.14842402T>ACA372960169FREM1c.1652A>T (p.Asp551Val)
n.2438A>T
c.1679A>T (p.Asp560Val)
c.1271A>T (p.Asp424Val)
c.755A>T (p.Asp252Val)
n.2465A>T
n.2468A>T
n.2412A>T
 gnomAD v4
9g.14842402T>CCA372960171FREM1c.1652A>G (p.Asp551Gly)
n.2438A>G
c.1679A>G (p.Asp560Gly)
c.1271A>G (p.Asp424Gly)
c.755A>G (p.Asp252Gly)
n.2465A>G
n.2468A>G
n.2412A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.14842402T>GCA372960170FREM1c.1652A>C (p.Asp551Ala)
n.2438A>C
c.1679A>C (p.Asp560Ala)
c.1271A>C (p.Asp424Ala)
c.755A>C (p.Asp252Ala)
n.2465A>C
n.2468A>C
n.2412A>C
9g.14842402T=CA1835222343FREM1c.1652A= (p.Asp551=)
n.2438A=
c.1679A= (p.Asp560=)
c.1271A= (p.Asp424=)
c.755A= (p.Asp252=)
n.2465A=
n.2468A=
n.2412A=
9g.14842403C>ACA372960172FREM1c.1651G>T (p.Asp551Tyr)
n.2437G>T
c.1678G>T (p.Asp560Tyr)
c.1270G>T (p.Asp424Tyr)
c.754G>T (p.Asp252Tyr)
n.2464G>T
n.2467G>T
n.2411G>T
9g.14842403C=CA1835222344FREM1c.1651G= (p.Asp551=)
n.2437G=
c.1678G= (p.Asp560=)
c.1270G= (p.Asp424=)
c.754G= (p.Asp252=)
n.2464G=
n.2467G=
n.2411G=
9g.14842403C>GCA372960173FREM1c.1651G>C (p.Asp551His)
n.2437G>C
c.1678G>C (p.Asp560His)
c.1270G>C (p.Asp424His)
c.754G>C (p.Asp252His)
n.2464G>C
n.2467G>C
n.2411G>C
9g.14842403C>TCA372960174FREM1c.1651G>A (p.Asp551Asn)
n.2437G>A
c.1678G>A (p.Asp560Asn)
c.1270G>A (p.Asp424Asn)
c.754G>A (p.Asp252Asn)
n.2464G>A
n.2467G>A
n.2411G>A
9g.14842404C>ACA464024426FREM1c.1650G>T (p.Val550=)
n.2436G>T
c.1677G>T (p.Val559=)
c.1269G>T (p.Val423=)
c.753G>T (p.Val251=)
n.2463G>T
n.2466G>T
n.2410G>T
9g.14842404C>GCA464024427FREM1c.1650G>C (p.Val550=)
n.2436G>C
c.1677G>C (p.Val559=)
c.1269G>C (p.Val423=)
c.753G>C (p.Val251=)
n.2463G>C
n.2466G>C
n.2410G>C
9g.14842404C>TCA464024429FREM1c.1650G>A (p.Val550=)
n.2436G>A
c.1677G>A (p.Val559=)
c.1269G>A (p.Val423=)
c.753G>A (p.Val251=)
n.2463G>A
n.2466G>A
n.2410G>A
 COSMIC
9g.14842406_14842407dupCA861370733FREM1c.1649_1650dup (p.Asp551TrpfsTer22)
n.2435_2436dup
c.1676_1677dup (p.Asp560TrpfsTer22)
c.1268_1269dup (p.Asp424TrpfsTer22)
c.752_753dup (p.Asp252TrpfsTer22)
n.2462_2463dup
n.2465_2466dup
n.2409_2410dup
 dbSNP gnomAD v3 gnomAD v4
9g.14842405A>CCA372960175FREM1c.1649T>G (p.Val550Gly)
n.2435T>G
c.1676T>G (p.Val559Gly)
c.1268T>G (p.Val423Gly)
c.752T>G (p.Val251Gly)
n.2462T>G
n.2465T>G
n.2409T>G
9g.14842405A>GCA372960176FREM1c.1649T>C (p.Val550Ala)
n.2435T>C
c.1676T>C (p.Val559Ala)
c.1268T>C (p.Val423Ala)
c.752T>C (p.Val251Ala)
n.2462T>C
n.2465T>C
n.2409T>C
9g.14842405A>TCA372960177FREM1c.1649T>A (p.Val550Glu)
n.2435T>A
c.1676T>A (p.Val559Glu)
c.1268T>A (p.Val423Glu)
c.752T>A (p.Val251Glu)
n.2462T>A
n.2465T>A
n.2409T>A
9g.14842406C>ACA372960178FREM1c.1648G>T (p.Val550Leu)
n.2434G>T
c.1675G>T (p.Val559Leu)
c.1267G>T (p.Val423Leu)
c.751G>T (p.Val251Leu)
n.2461G>T
n.2464G>T
n.2408G>T
 dbSNP
9g.14842406C=CA1835222345FREM1c.1648G= (p.Val550=)
n.2434G=
c.1675G= (p.Val559=)
c.1267G= (p.Val423=)
c.751G= (p.Val251=)
n.2461G=
n.2464G=
n.2408G=
9g.14842406C>GCA372960179FREM1c.1648G>C (p.Val550Leu)
n.2434G>C
c.1675G>C (p.Val559Leu)
c.1267G>C (p.Val423Leu)
c.751G>C (p.Val251Leu)
n.2461G>C
n.2464G>C
n.2408G>C
9g.14842406C>TCA4991178FREM1c.1648G>A (p.Val550Met)
n.2434G>A
c.1675G>A (p.Val559Met)
c.1267G>A (p.Val423Met)
c.751G>A (p.Val251Met)
n.2461G>A
n.2464G>A
n.2408G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.14842407A>CCA372960180FREM1c.1647T>G (p.Asp549Glu)
n.2433T>G
c.1674T>G (p.Asp558Glu)
c.1266T>G (p.Asp422Glu)
c.750T>G (p.Asp250Glu)
n.2460T>G
n.2463T>G
n.2407T>G
 gnomAD v4
9g.14842407A>GCA464024432FREM1c.1647T>C (p.Asp549=)
n.2433T>C
c.1674T>C (p.Asp558=)
c.1266T>C (p.Asp422=)
c.750T>C (p.Asp250=)
n.2460T>C
n.2463T>C
n.2407T>C
9g.14842407A>TCA372960181FREM1c.1647T>A (p.Asp549Glu)
n.2433T>A
c.1674T>A (p.Asp558Glu)
c.1266T>A (p.Asp422Glu)
c.750T>A (p.Asp250Glu)
n.2460T>A
n.2463T>A
n.2407T>A
9g.14842407_14842408delinsATCA1835222346FREM1c.1646_1647delinsAT (p.Asp549=)
n.2432_2433delinsAT
c.1673_1674delinsAT (p.Asp558=)
c.1265_1266delinsAT (p.Asp422=)
c.749_750delinsAT (p.Asp250=)
n.2459_2460delinsAT
n.2462_2463delinsAT
n.2406_2407delinsAT
9g.14842408delCA586637836FREM1c.1646del (p.Asp549ValfsTer23)
n.2432del
c.1673del (p.Asp558ValfsTer23)
c.1265del (p.Asp422ValfsTer23)
c.749del (p.Asp250ValfsTer23)
n.2459del
n.2462del
n.2406del
 dbSNP gnomAD v2 gnomAD v4
9g.14842408T>ACA372960184FREM1c.1646A>T (p.Asp549Val)
n.2432A>T
c.1673A>T (p.Asp558Val)
c.1265A>T (p.Asp422Val)
c.749A>T (p.Asp250Val)
n.2459A>T
n.2462A>T
n.2406A>T
9g.14842408T>CCA372960182FREM1c.1646A>G (p.Asp549Gly)
n.2432A>G
c.1673A>G (p.Asp558Gly)
c.1265A>G (p.Asp422Gly)
c.749A>G (p.Asp250Gly)
n.2459A>G
n.2462A>G
n.2406A>G
 ClinVar
9g.14842408T>GCA372960183FREM1c.1646A>C (p.Asp549Ala)
n.2432A>C
c.1673A>C (p.Asp558Ala)
c.1265A>C (p.Asp422Ala)
c.749A>C (p.Asp250Ala)
n.2459A>C
n.2462A>C
n.2406A>C
 gnomAD v4
9g.14842409C>ACA372960185FREM1c.1645G>T (p.Asp549Tyr)
n.2431G>T
c.1672G>T (p.Asp558Tyr)
c.1264G>T (p.Asp422Tyr)
c.748G>T (p.Asp250Tyr)
n.2458G>T
n.2461G>T
n.2405G>T
9g.14842409C>GCA372960187FREM1c.1645G>C (p.Asp549His)
n.2431G>C
c.1672G>C (p.Asp558His)
c.1264G>C (p.Asp422His)
c.748G>C (p.Asp250His)
n.2458G>C
n.2461G>C
n.2405G>C
 gnomAD v4
9g.14842409C>TCA372960186FREM1c.1645G>A (p.Asp549Asn)
n.2431G>A
c.1672G>A (p.Asp558Asn)
c.1264G>A (p.Asp422Asn)
c.748G>A (p.Asp250Asn)
n.2458G>A
n.2461G>A
n.2405G>A
9g.14842410T>ACA464024435FREM1c.1644A>T (p.Ser548=)
n.2430A>T
c.1671A>T (p.Ser557=)
c.1263A>T (p.Ser421=)
c.747A>T (p.Ser249=)
n.2457A>T
n.2460A>T
n.2404A>T
9g.14842410T>CCA4991179FREM1c.1644A>G (p.Ser548=)
n.2430A>G
c.1671A>G (p.Ser557=)
c.1263A>G (p.Ser421=)
c.747A>G (p.Ser249=)
n.2457A>G
n.2460A>G
n.2404A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842410T>GCA464024436FREM1c.1644A>C (p.Ser548=)
n.2430A>C
c.1671A>C (p.Ser557=)
c.1263A>C (p.Ser421=)
c.747A>C (p.Ser249=)
n.2457A>C
n.2460A>C
n.2404A>C
9g.14842410T=CA1835222347FREM1c.1644A= (p.Ser548=)
n.2430A=
c.1671A= (p.Ser557=)
c.1263A= (p.Ser421=)
c.747A= (p.Ser249=)
n.2457A=
n.2460A=
n.2404A=
9g.14842411G>ACA372960190FREM1c.1643C>T (p.Ser548Leu)
n.2429C>T
c.1670C>T (p.Ser557Leu)
c.1262C>T (p.Ser421Leu)
c.746C>T (p.Ser249Leu)
n.2456C>T
n.2459C>T
n.2403C>T
9g.14842411G>CCA372960188FREM1c.1643C>G (p.Ser548Ter)
n.2429C>G
c.1670C>G (p.Ser557Ter)
c.1262C>G (p.Ser421Ter)
c.746C>G (p.Ser249Ter)
n.2456C>G
n.2459C>G
n.2403C>G
9g.14842411G>TCA372960189FREM1c.1643C>A (p.Ser548Ter)
n.2429C>A
c.1670C>A (p.Ser557Ter)
c.1262C>A (p.Ser421Ter)
c.746C>A (p.Ser249Ter)
n.2456C>A
n.2459C>A
n.2403C>A
9g.14842412A>CCA372960191FREM1c.1642T>G (p.Ser548Ala)
n.2428T>G
c.1669T>G (p.Ser557Ala)
c.1261T>G (p.Ser421Ala)
c.745T>G (p.Ser249Ala)
n.2455T>G
n.2458T>G
n.2402T>G
9g.14842412A>GCA372960192FREM1c.1642T>C (p.Ser548Pro)
n.2428T>C
c.1669T>C (p.Ser557Pro)
c.1261T>C (p.Ser421Pro)
c.745T>C (p.Ser249Pro)
n.2455T>C
n.2458T>C
n.2402T>C
9g.14842412A>TCA372960193FREM1c.1642T>A (p.Ser548Thr)
n.2428T>A
c.1669T>A (p.Ser557Thr)
c.1261T>A (p.Ser421Thr)
c.745T>A (p.Ser249Thr)
n.2455T>A
n.2458T>A
n.2402T>A
9g.14842413A>CCA464024438FREM1c.1641T>G (p.Ala547=)
n.2427T>G
c.1668T>G (p.Ala556=)
c.1260T>G (p.Ala420=)
c.744T>G (p.Ala248=)
n.2454T>G
n.2457T>G
n.2401T>G
9g.14842413A>GCA464024439FREM1c.1641T>C (p.Ala547=)
n.2427T>C
c.1668T>C (p.Ala556=)
c.1260T>C (p.Ala420=)
c.744T>C (p.Ala248=)
n.2454T>C
n.2457T>C
n.2401T>C
9g.14842413A>TCA464024440FREM1c.1641T>A (p.Ala547=)
n.2427T>A
c.1668T>A (p.Ala556=)
c.1260T>A (p.Ala420=)
c.744T>A (p.Ala248=)
n.2454T>A
n.2457T>A
n.2401T>A
9g.14842414G>ACA372960194FREM1c.1640C>T (p.Ala547Val)
n.2426C>T
c.1667C>T (p.Ala556Val)
c.1259C>T (p.Ala420Val)
c.743C>T (p.Ala248Val)
n.2453C>T
n.2456C>T
n.2400C>T
9g.14842414G>CCA4991180FREM1c.1640C>G (p.Ala547Gly)
n.2426C>G
c.1667C>G (p.Ala556Gly)
c.1259C>G (p.Ala420Gly)
c.743C>G (p.Ala248Gly)
n.2453C>G
n.2456C>G
n.2400C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.14842414G=CA1835222348FREM1c.1640C= (p.Ala547=)
n.2426C=
c.1667C= (p.Ala556=)
c.1259C= (p.Ala420=)
c.743C= (p.Ala248=)
n.2453C=
n.2456C=
n.2400C=
9g.14842414G>TCA372960195FREM1c.1640C>A (p.Ala547Asp)
n.2426C>A
c.1667C>A (p.Ala556Asp)
c.1259C>A (p.Ala420Asp)
c.743C>A (p.Ala248Asp)
n.2453C>A
n.2456C>A
n.2400C>A
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

Number of alleles fetched