Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.14842343T>A | CA372959951 | FREM1 | c.1711A>T (p.Met571Leu) n.2497A>T c.1738A>T (p.Met580Leu) c.1330A>T (p.Met444Leu) c.814A>T (p.Met272Leu) n.2524A>T n.2527A>T n.2471A>T | |
9 | g.14842343T>C | CA372959952 | FREM1 | c.1711A>G (p.Met571Val) n.2497A>G c.1738A>G (p.Met580Val) c.1330A>G (p.Met444Val) c.814A>G (p.Met272Val) n.2524A>G n.2527A>G n.2471A>G | ClinVar dbSNP |
9 | g.14842343T>G | CA372959954 | FREM1 | c.1711A>C (p.Met571Leu) n.2497A>C c.1738A>C (p.Met580Leu) c.1330A>C (p.Met444Leu) c.814A>C (p.Met272Leu) n.2524A>C n.2527A>C n.2471A>C | |
9 | g.14842343T= | CA1835222311 | FREM1 | c.1711A= (p.Met571=) n.2497A= c.1738A= (p.Met580=) c.1330A= (p.Met444=) c.814A= (p.Met272=) n.2524A= n.2527A= n.2471A= | |
9 | g.14842344G>A | CA463877690 | FREM1 | c.1710C>T (p.Ile570=) n.2496C>T c.1737C>T (p.Ile579=) c.1329C>T (p.Ile443=) c.813C>T (p.Ile271=) n.2523C>T n.2526C>T n.2470C>T | |
9 | g.14842344G>C | CA372959956 | FREM1 | c.1710C>G (p.Ile570Met) n.2496C>G c.1737C>G (p.Ile579Met) c.1329C>G (p.Ile443Met) c.813C>G (p.Ile271Met) n.2523C>G n.2526C>G n.2470C>G | gnomAD v4 |
9 | g.14842344G>T | CA463877691 | FREM1 | c.1710C>A (p.Ile570=) n.2496C>A c.1737C>A (p.Ile579=) c.1329C>A (p.Ile443=) c.813C>A (p.Ile271=) n.2523C>A n.2526C>A n.2470C>A | |
9 | g.14842345A= | CA1835222312 | FREM1 | c.1709T= (p.Ile570=) n.2495T= c.1736T= (p.Ile579=) c.1328T= (p.Ile443=) c.812T= (p.Ile271=) n.2522T= n.2525T= n.2469T= | |
9 | g.14842345A>C | CA372959960 | FREM1 | c.1709T>G (p.Ile570Ser) n.2495T>G c.1736T>G (p.Ile579Ser) c.1328T>G (p.Ile443Ser) c.812T>G (p.Ile271Ser) n.2522T>G n.2525T>G n.2469T>G | |
9 | g.14842345A>G | CA372959957 | FREM1 | c.1709T>C (p.Ile570Thr) n.2495T>C c.1736T>C (p.Ile579Thr) c.1328T>C (p.Ile443Thr) c.812T>C (p.Ile271Thr) n.2522T>C n.2525T>C n.2469T>C | dbSNP gnomAD v4 |
9 | g.14842345A>T | CA372959959 | FREM1 | c.1709T>A (p.Ile570Asn) n.2495T>A c.1736T>A (p.Ile579Asn) c.1328T>A (p.Ile443Asn) c.812T>A (p.Ile271Asn) n.2522T>A n.2525T>A n.2469T>A | gnomAD v4 |
9 | g.14842346T>A | CA372959961 | FREM1 | c.1708A>T (p.Ile570Phe) n.2494A>T c.1735A>T (p.Ile579Phe) c.1327A>T (p.Ile443Phe) c.811A>T (p.Ile271Phe) n.2521A>T n.2524A>T n.2468A>T | |
9 | g.14842346T>C | CA372959962 | FREM1 | c.1708A>G (p.Ile570Val) n.2494A>G c.1735A>G (p.Ile579Val) c.1327A>G (p.Ile443Val) c.811A>G (p.Ile271Val) n.2521A>G n.2524A>G n.2468A>G | |
9 | g.14842346T>G | CA372959963 | FREM1 | c.1708A>C (p.Ile570Leu) n.2494A>C c.1735A>C (p.Ile579Leu) c.1327A>C (p.Ile443Leu) c.811A>C (p.Ile271Leu) n.2521A>C n.2524A>C n.2468A>C | gnomAD v4 |
9 | g.14842347C>A | CA372959968 | FREM1 | c.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 |
9 | g.14842347C= | CA1835222313 | FREM1 | c.1707G= (p.Glu569=) n.2493G= c.1734G= (p.Glu578=) c.1326G= (p.Glu442=) c.810G= (p.Glu270=) n.2520G= n.2523G= n.2467G= | |
9 | g.14842347C>G | CA372959966 | FREM1 | c.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 | |
9 | g.14842347C>T | CA189364127 | FREM1 | c.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 |
9 | g.14842348_14842355dup | CA2579304632 | FREM1 | c.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 | |
9 | g.14842348T>A | CA372959969 | FREM1 | c.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 | |
9 | g.14842348T>C | CA372959971 | FREM1 | c.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 | |
9 | g.14842348T>G | CA372959972 | FREM1 | c.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 | |
9 | g.14842348_14842349delinsTC | CA1835222314 | FREM1 | c.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 | |
9 | g.14842349C>A | CA372959975 | FREM1 | c.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 | |
9 | g.14842349C= | CA1835222315 | FREM1 | c.1705G= (p.Glu569=) n.2491G= c.1732G= (p.Glu578=) c.1324G= (p.Glu442=) c.808G= (p.Glu270=) n.2518G= n.2521G= n.2465G= | |
9 | g.14842349C>G | CA372959976 | FREM1 | c.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 | |
9 | g.14842349C>T | CA372959978 | FREM1 | c.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 |
9 | g.14842352del | CA586243398 | FREM1 | c.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 |
9 | g.14842350C>A | CA463877692 | FREM1 | c.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 | |
9 | g.14842350C= | CA1835222316 | FREM1 | c.1704G= (p.Gly568=) n.2490G= c.1731G= (p.Gly577=) c.1323G= (p.Gly441=) c.807G= (p.Gly269=) n.2517G= n.2520G= n.2464G= | |
9 | g.14842350C>G | CA463877693 | FREM1 | c.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 | |
9 | g.14842350C>T | CA463877694 | FREM1 | c.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 |
9 | g.14842351C>A | CA372959980 | FREM1 | c.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 | |
9 | g.14842351C>G | CA372959983 | FREM1 | c.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 | |
9 | g.14842351C>T | CA372959982 | FREM1 | c.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 | |
9 | g.14842352C>A | CA372960056 | FREM1 | c.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 | |
9 | g.14842352C>G | CA372960057 | FREM1 | c.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 | |
9 | g.14842352C>T | CA372960058 | FREM1 | c.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 | |
9 | g.14842352_14842363delinsCAGCCTGTGGAG | CA1835222317 | FREM1 | c.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 | |
9 | g.14842353A= | CA1835222318 | FREM1 | c.1701T= (p.Ala567=) n.2487T= c.1728T= (p.Ala576=) c.1320T= (p.Ala440=) c.804T= (p.Ala268=) n.2514T= n.2517T= n.2461T= | |
9 | g.14842353A>C | CA4991169 | FREM1 | c.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 |
9 | g.14842353A>G | CA464024320 | FREM1 | c.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 | |
9 | g.14842353A>T | CA464024321 | FREM1 | c.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 |
9 | g.14842353_14842363del | CA586637835 | FREM1 | c.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 |
9 | g.14842354G>A | CA372960059 | FREM1 | c.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 |
9 | g.14842354G>C | CA372960060 | FREM1 | c.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 | |
9 | g.14842354G>T | CA372960061 | FREM1 | c.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 | |
9 | g.14842355C>A | CA372960062 | FREM1 | c.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 | |
9 | g.14842355C>G | CA372960063 | FREM1 | c.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 | |
9 | g.14842355C>T | CA372960064 | FREM1 | c.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 |
9 | g.14842356C>A | CA372960065 | FREM1 | c.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 | |
9 | g.14842356C>G | CA372960066 | FREM1 | c.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 | |
9 | g.14842356C>T | CA464024327 | FREM1 | c.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 | |
9 | g.14842357T>A | CA372960068 | FREM1 | c.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 | |
9 | g.14842357T>C | CA372960069 | FREM1 | c.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 | |
9 | g.14842357T>G | CA372960067 | FREM1 | c.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 | |
9 | g.14842358G>A | CA372960070 | FREM1 | c.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 | |
9 | g.14842358G>C | CA372960072 | FREM1 | c.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 | |
9 | g.14842358G>T | CA372960071 | FREM1 | c.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 |
9 | g.14842359T>A | CA464024330 | FREM1 | c.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 | |
9 | g.14842359T>C | CA464024332 | FREM1 | c.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 | |
9 | g.14842359T>G | CA189364133 | FREM1 | c.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 |
9 | g.14842359T= | CA1835222319 | FREM1 | c.1695A= (p.Pro565=) n.2481A= c.1722A= (p.Pro574=) c.1314A= (p.Pro438=) c.798A= (p.Pro266=) n.2508A= n.2511A= n.2455A= | |
9 | g.14842360G>A | CA372960073 | FREM1 | c.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 | |
9 | g.14842360G>C | CA372960075 | FREM1 | c.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 | |
9 | g.14842360G>T | CA372960074 | FREM1 | c.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 | |
9 | g.14842361G>A | CA372960076 | FREM1 | c.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 |
9 | g.14842361G>C | CA372960077 | FREM1 | c.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 |
9 | g.14842361G= | CA1835222320 | FREM1 | c.1693C= (p.Pro565=) n.2479C= c.1720C= (p.Pro574=) c.1312C= (p.Pro438=) c.796C= (p.Pro266=) n.2506C= n.2509C= n.2453C= | |
9 | g.14842361G>T | CA372960078 | FREM1 | c.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 | |
9 | g.14842362A>C | CA464024338 | FREM1 | c.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 | |
9 | g.14842362A>G | CA464024339 | FREM1 | c.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 | |
9 | g.14842362A>T | CA464024347 | FREM1 | c.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 | |
9 | g.14842363G>A | CA189364145 | FREM1 | c.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 |
9 | g.14842363G>C | CA372960079 | FREM1 | c.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 |
9 | g.14842363G= | CA1835222321 | FREM1 | c.1691C= (p.Pro564=) n.2477C= c.1718C= (p.Pro573=) c.1310C= (p.Pro437=) c.794C= (p.Pro265=) n.2504C= n.2507C= n.2451C= | |
9 | g.14842363G>T | CA4991170 | FREM1 | c.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 |
9 | g.14842364G>A | CA4991171 | FREM1 | c.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 |
9 | g.14842364G>C | CA372960080 | FREM1 | c.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 |
9 | g.14842364G= | CA1835222322 | FREM1 | c.1690C= (p.Pro564=) n.2476C= c.1717C= (p.Pro573=) c.1309C= (p.Pro437=) c.793C= (p.Pro265=) n.2503C= n.2506C= n.2450C= | |
9 | g.14842364G>T | CA372960081 | FREM1 | c.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 | |
9 | g.14842365C>A | CA372960082 | FREM1 | c.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 | |
9 | g.14842365C= | CA1835222323 | FREM1 | c.1689G= (p.Lys563=) n.2475G= c.1716G= (p.Lys572=) c.1308G= (p.Lys436=) c.792G= (p.Lys264=) n.2502G= n.2505G= n.2449G= | |
9 | g.14842365C>G | CA372960083 | FREM1 | c.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 |
9 | g.14842365C>T | CA464024355 | FREM1 | c.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 | |
9 | g.14842366T>A | CA372960086 | FREM1 | c.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 | |
9 | g.14842366T>C | CA372960084 | FREM1 | c.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 | |
9 | g.14842366T>G | CA372960085 | FREM1 | c.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 | |
9 | g.14842367T>A | CA372960087 | FREM1 | c.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 | |
9 | g.14842367T>C | CA189364161 | FREM1 | c.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 |
9 | g.14842367T>G | CA372960088 | FREM1 | c.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 | |
9 | g.14842367T= | CA1835222324 | FREM1 | c.1687A= (p.Lys563=) n.2473A= c.1714A= (p.Lys572=) c.1306A= (p.Lys436=) c.790A= (p.Lys264=) n.2500A= n.2503A= n.2447A= | |
9 | g.14842368T>A | CA464024357 | FREM1 | c.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 | |
9 | g.14842368T>C | CA464024359 | FREM1 | c.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 | |
9 | g.14842368T>G | CA464024362 | FREM1 | c.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 | |
9 | g.14842369G>A | CA372960089 | FREM1 | c.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 |
9 | g.14842369G>C | CA372960090 | FREM1 | c.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 | |
9 | g.14842369G>T | CA372960091 | FREM1 | c.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 | |
9 | g.14842370T>A | CA372960092 | FREM1 | c.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 | |
9 | g.14842370T>C | CA372960093 | FREM1 | c.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 |
9 | g.14842370T>G | CA372960094 | FREM1 | c.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 | |
9 | g.14842370T= | CA1835222325 | FREM1 | c.1684A= (p.Thr562=) n.2470A= c.1711A= (p.Thr571=) c.1303A= (p.Thr435=) c.787A= (p.Thr263=) n.2497A= n.2500A= n.2444A= | |
9 | g.14842371G>A | CA464024366 | FREM1 | c.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 |
9 | g.14842371G>C | CA372960095 | FREM1 | c.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 | |
9 | g.14842371G>T | CA464024369 | FREM1 | c.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 | |
9 | g.14842372A>C | CA372960097 | FREM1 | c.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 | |
9 | g.14842372A>G | CA372960098 | FREM1 | c.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 | |
9 | g.14842372A>T | CA372960096 | FREM1 | c.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 | |
9 | g.14842373T>A | CA372960099 | FREM1 | c.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 | |
9 | g.14842373T>C | CA372960100 | FREM1 | c.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 |
9 | g.14842373T>G | CA372960101 | FREM1 | c.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 | |
9 | g.14842373T= | CA1835222326 | FREM1 | c.1681A= (p.Ile561=) n.2467A= c.1708A= (p.Ile570=) c.1300A= (p.Ile434=) c.784A= (p.Ile262=) n.2494A= n.2497A= n.2441A= | |
9 | g.14842374A= | CA1835222327 | FREM1 | c.1680T= (p.Asn560=) n.2466T= c.1707T= (p.Asn569=) c.1299T= (p.Asn433=) c.783T= (p.Asn261=) n.2493T= n.2496T= n.2440T= | |
9 | g.14842374A>C | CA372960102 | FREM1 | c.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 | |
9 | g.14842374A>G | CA464024370 | FREM1 | c.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 |
9 | g.14842374A>T | CA372960103 | FREM1 | c.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 | |
9 | g.14842375T>A | CA372960104 | FREM1 | c.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 | |
9 | g.14842375T>C | CA372960105 | FREM1 | c.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 |
9 | g.14842375T>G | CA372960106 | FREM1 | c.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 | |
9 | g.14842375T= | CA1835222328 | FREM1 | c.1679A= (p.Asn560=) n.2465A= c.1706A= (p.Asn569=) c.1298A= (p.Asn433=) c.782A= (p.Asn261=) n.2492A= n.2495A= n.2439A= | |
9 | g.14842376T>A | CA372960107 | FREM1 | c.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 | |
9 | g.14842376T>C | CA372960108 | FREM1 | c.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 | |
9 | g.14842376T>G | CA372960109 | FREM1 | c.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 |
9 | g.14842376T= | CA1835222329 | FREM1 | c.1678A= (p.Asn560=) n.2464A= c.1705A= (p.Asn569=) c.1297A= (p.Asn433=) c.781A= (p.Asn261=) n.2491A= n.2494A= n.2438A= | |
9 | g.14842377G>A | CA464024378 | FREM1 | c.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 | |
9 | g.14842377G>C | CA372960110 | FREM1 | c.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 | |
9 | g.14842377G>T | CA372960111 | FREM1 | c.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 | |
9 | g.14842382_14842384del | CA645564367 | FREM1 | c.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 |
9 | g.14842378A>C | CA372960114 | FREM1 | c.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 | |
9 | g.14842378A>G | CA372960113 | FREM1 | c.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 | |
9 | g.14842378A>T | CA372960112 | FREM1 | c.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 | |
9 | g.14842379A>C | CA372960115 | FREM1 | c.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 | |
9 | g.14842379A>G | CA372960116 | FREM1 | c.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 |
9 | g.14842379A>T | CA372960117 | FREM1 | c.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 | |
9 | g.14842380G>A | CA464024382 | FREM1 | c.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 |
9 | g.14842380G>C | CA372960118 | FREM1 | c.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 | |
9 | g.14842380G>T | CA372960119 | FREM1 | c.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 | |
9 | g.14842381A>C | CA372960120 | FREM1 | c.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 | |
9 | g.14842381A>G | CA372960121 | FREM1 | c.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 | |
9 | g.14842381A>T | CA372960122 | FREM1 | c.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 | |
9 | g.14842382A= | CA1835222330 | FREM1 | c.1672T= (p.Phe558=) n.2458T= c.1699T= (p.Phe567=) c.1291T= (p.Phe431=) c.775T= (p.Phe259=) n.2485T= n.2488T= n.2432T= | |
9 | g.14842382A>C | CA372960123 | FREM1 | c.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 |
9 | g.14842382A>G | CA372960124 | FREM1 | c.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 | |
9 | g.14842382A>T | CA372960125 | FREM1 | c.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 | |
9 | g.14842383G>A | CA464024392 | FREM1 | c.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 | |
9 | g.14842383G>C | CA189364163 | FREM1 | c.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 |
9 | g.14842383G= | CA1835222331 | FREM1 | c.1671C= (p.Ile557=) n.2457C= c.1698C= (p.Ile566=) c.1290C= (p.Ile430=) c.774C= (p.Ile258=) n.2484C= n.2487C= n.2431C= | |
9 | g.14842383G>T | CA464024394 | FREM1 | c.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 |
9 | g.14842384A= | CA1835222332 | FREM1 | c.1670T= (p.Ile557=) n.2456T= c.1697T= (p.Ile566=) c.1289T= (p.Ile430=) c.773T= (p.Ile258=) n.2483T= n.2486T= n.2430T= | |
9 | g.14842384A>C | CA372960128 | FREM1 | c.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 | |
9 | g.14842384A>G | CA372960127 | FREM1 | c.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 | |
9 | g.14842384A>T | CA372960126 | FREM1 | c.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 |
9 | g.14842385T>A | CA372960129 | FREM1 | c.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 | |
9 | g.14842385T>C | CA372960131 | FREM1 | c.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 |
9 | g.14842385T>G | CA372960130 | FREM1 | c.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 | |
9 | g.14842386G>A | CA464024403 | FREM1 | c.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 |
9 | g.14842386G>C | CA372960132 | FREM1 | c.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 | |
9 | g.14842386G= | CA1835222333 | FREM1 | c.1668C= (p.Tyr556=) n.2454C= c.1695C= (p.Tyr565=) c.1287C= (p.Tyr429=) c.771C= (p.Tyr257=) n.2481C= n.2484C= n.2428C= | |
9 | g.14842386G>T | CA372960133 | FREM1 | c.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 | |
9 | g.14842387T>A | CA372960134 | FREM1 | c.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 | |
9 | g.14842387T>C | CA372960135 | FREM1 | c.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 | |
9 | g.14842387T>G | CA372960136 | FREM1 | c.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 | |
9 | g.14842388A= | CA1835222334 | FREM1 | c.1666T= (p.Tyr556=) n.2452T= c.1693T= (p.Tyr565=) c.1285T= (p.Tyr429=) c.769T= (p.Tyr257=) n.2479T= n.2482T= n.2426T= | |
9 | g.14842388A>C | CA372960137 | FREM1 | c.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 |
9 | g.14842388A>G | CA4991172 | FREM1 | c.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 |
9 | g.14842388A>T | CA372960138 | FREM1 | c.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 | |
9 | g.14842389G>A | CA4991173 | FREM1 | c.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 |
9 | g.14842389G>C | CA372960139 | FREM1 | c.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 | |
9 | g.14842389G= | CA1835222335 | FREM1 | c.1665C= (p.Asp555=) n.2451C= c.1692C= (p.Asp564=) c.1284C= (p.Asp428=) c.768C= (p.Asp256=) n.2478C= n.2481C= n.2425C= | |
9 | g.14842389G>T | CA372960140 | FREM1 | c.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 | |
9 | g.14842390T>A | CA372960143 | FREM1 | c.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 | |
9 | g.14842390T>C | CA372960142 | FREM1 | c.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 |
9 | g.14842390T>G | CA372960141 | FREM1 | c.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 | |
9 | g.14842390T= | CA1835222336 | FREM1 | c.1664A= (p.Asp555=) n.2450A= c.1691A= (p.Asp564=) c.1283A= (p.Asp428=) c.767A= (p.Asp256=) n.2477A= n.2480A= n.2424A= | |
9 | g.14842391C>A | CA372960144 | FREM1 | c.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 | |
9 | g.14842391C= | CA1835222337 | FREM1 | c.1663G= (p.Asp555=) n.2449G= c.1690G= (p.Asp564=) c.1282G= (p.Asp428=) c.766G= (p.Asp256=) n.2476G= n.2479G= n.2423G= | |
9 | g.14842391C>G | CA372960145 | FREM1 | c.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 | |
9 | g.14842391C>T | CA4991174 | FREM1 | c.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 |
9 | g.14842392A= | CA1835222338 | FREM1 | c.1662T= (p.Asp554=) n.2448T= c.1689T= (p.Asp563=) c.1281T= (p.Asp427=) c.765T= (p.Asp255=) n.2475T= n.2478T= n.2422T= | |
9 | g.14842392A>C | CA372960146 | FREM1 | c.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 | |
9 | g.14842392A>G | CA4991175 | FREM1 | c.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 |
9 | g.14842392A>T | CA372960147 | FREM1 | c.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 | |
9 | g.14842393T>A | CA372960148 | FREM1 | c.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 |
9 | g.14842393T>C | CA372960149 | FREM1 | c.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 |
9 | g.14842393T>G | CA372960150 | FREM1 | c.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 |
9 | g.14842393T= | CA1835222339 | FREM1 | c.1661A= (p.Asp554=) n.2447A= c.1688A= (p.Asp563=) c.1280A= (p.Asp427=) c.764A= (p.Asp255=) n.2474A= n.2477A= n.2421A= | |
9 | g.14842394C>A | CA372960151 | FREM1 | c.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 | |
9 | g.14842394C>G | CA372960152 | FREM1 | c.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 | |
9 | g.14842394C>T | CA372960153 | FREM1 | c.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 |
9 | g.14842395A>C | CA372960155 | FREM1 | c.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 | |
9 | g.14842395A>G | CA464024412 | FREM1 | c.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 | |
9 | g.14842395A>T | CA372960154 | FREM1 | c.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 | |
9 | g.14842396C>A | CA372960156 | FREM1 | c.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 | |
9 | g.14842396C>G | CA372960157 | FREM1 | c.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 | |
9 | g.14842396C>T | CA372960158 | FREM1 | c.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 | |
9 | g.14842397T>A | CA372960159 | FREM1 | c.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 | |
9 | g.14842397T>C | CA372960160 | FREM1 | c.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 | |
9 | g.14842397T>G | CA372960161 | FREM1 | c.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 | |
9 | g.14842398G>A | CA464024415 | FREM1 | c.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 | |
9 | g.14842398G>C | CA464024418 | FREM1 | c.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 | |
9 | g.14842398G>T | CA464024422 | FREM1 | c.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 | |
9 | g.14842399G>A | CA372960164 | FREM1 | c.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 |
9 | g.14842399G>C | CA372960163 | FREM1 | c.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 | |
9 | g.14842399G= | CA1835222340 | FREM1 | c.1655C= (p.Ala552=) n.2441C= c.1682C= (p.Ala561=) c.1274C= (p.Ala425=) c.758C= (p.Ala253=) n.2468C= n.2471C= n.2415C= | |
9 | g.14842399G>T | CA372960162 | FREM1 | c.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 | |
9 | g.14842400C>A | CA372960165 | FREM1 | c.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 |
9 | g.14842400C= | CA1835222341 | FREM1 | c.1654G= (p.Ala552=) n.2440G= c.1681G= (p.Ala561=) c.1273G= (p.Ala425=) c.757G= (p.Ala253=) n.2467G= n.2470G= n.2414G= | |
9 | g.14842400C>G | CA372960166 | FREM1 | c.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 | |
9 | g.14842400C>T | CA4991176 | FREM1 | c.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 |
9 | g.14842401G>A | CA4991177 | FREM1 | c.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 |
9 | g.14842401G>C | CA372960167 | FREM1 | c.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 | |
9 | g.14842401G= | CA1835222342 | FREM1 | c.1653C= (p.Asp551=) n.2439C= c.1680C= (p.Asp560=) c.1272C= (p.Asp424=) c.756C= (p.Asp252=) n.2466C= n.2469C= n.2413C= | |
9 | g.14842401G>T | CA372960168 | FREM1 | c.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 | |
9 | g.14842402T>A | CA372960169 | FREM1 | c.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 |
9 | g.14842402T>C | CA372960171 | FREM1 | c.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 |
9 | g.14842402T>G | CA372960170 | FREM1 | c.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 | |
9 | g.14842402T= | CA1835222343 | FREM1 | c.1652A= (p.Asp551=) n.2438A= c.1679A= (p.Asp560=) c.1271A= (p.Asp424=) c.755A= (p.Asp252=) n.2465A= n.2468A= n.2412A= | |
9 | g.14842403C>A | CA372960172 | FREM1 | c.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 | |
9 | g.14842403C= | CA1835222344 | FREM1 | c.1651G= (p.Asp551=) n.2437G= c.1678G= (p.Asp560=) c.1270G= (p.Asp424=) c.754G= (p.Asp252=) n.2464G= n.2467G= n.2411G= | |
9 | g.14842403C>G | CA372960173 | FREM1 | c.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 | |
9 | g.14842403C>T | CA372960174 | FREM1 | c.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 | |
9 | g.14842404C>A | CA464024426 | FREM1 | c.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 | |
9 | g.14842404C>G | CA464024427 | FREM1 | c.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 | |
9 | g.14842404C>T | CA464024429 | FREM1 | c.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 |
9 | g.14842406_14842407dup | CA861370733 | FREM1 | c.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 |
9 | g.14842405A>C | CA372960175 | FREM1 | c.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 | |
9 | g.14842405A>G | CA372960176 | FREM1 | c.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 | |
9 | g.14842405A>T | CA372960177 | FREM1 | c.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 | |
9 | g.14842406C>A | CA372960178 | FREM1 | c.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 |
9 | g.14842406C= | CA1835222345 | FREM1 | c.1648G= (p.Val550=) n.2434G= c.1675G= (p.Val559=) c.1267G= (p.Val423=) c.751G= (p.Val251=) n.2461G= n.2464G= n.2408G= | |
9 | g.14842406C>G | CA372960179 | FREM1 | c.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 | |
9 | g.14842406C>T | CA4991178 | FREM1 | c.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 |
9 | g.14842407A>C | CA372960180 | FREM1 | c.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 |
9 | g.14842407A>G | CA464024432 | FREM1 | c.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 | |
9 | g.14842407A>T | CA372960181 | FREM1 | c.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 | |
9 | g.14842407_14842408delinsAT | CA1835222346 | FREM1 | c.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 | |
9 | g.14842408del | CA586637836 | FREM1 | c.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 |
9 | g.14842408T>A | CA372960184 | FREM1 | c.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 | |
9 | g.14842408T>C | CA372960182 | FREM1 | c.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 |
9 | g.14842408T>G | CA372960183 | FREM1 | c.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 |
9 | g.14842409C>A | CA372960185 | FREM1 | c.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 | |
9 | g.14842409C>G | CA372960187 | FREM1 | c.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 |
9 | g.14842409C>T | CA372960186 | FREM1 | c.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 | |
9 | g.14842410T>A | CA464024435 | FREM1 | c.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 | |
9 | g.14842410T>C | CA4991179 | FREM1 | c.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 |
9 | g.14842410T>G | CA464024436 | FREM1 | c.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 | |
9 | g.14842410T= | CA1835222347 | FREM1 | c.1644A= (p.Ser548=) n.2430A= c.1671A= (p.Ser557=) c.1263A= (p.Ser421=) c.747A= (p.Ser249=) n.2457A= n.2460A= n.2404A= | |
9 | g.14842411G>A | CA372960190 | FREM1 | c.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 | |
9 | g.14842411G>C | CA372960188 | FREM1 | c.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 | |
9 | g.14842411G>T | CA372960189 | FREM1 | c.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 | |
9 | g.14842412A>C | CA372960191 | FREM1 | c.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 | |
9 | g.14842412A>G | CA372960192 | FREM1 | c.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 | |
9 | g.14842412A>T | CA372960193 | FREM1 | c.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 | |
9 | g.14842413A>C | CA464024438 | FREM1 | c.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 | |
9 | g.14842413A>G | CA464024439 | FREM1 | c.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 | |
9 | g.14842413A>T | CA464024440 | FREM1 | c.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 | |
9 | g.14842414G>A | CA372960194 | FREM1 | c.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 | |
9 | g.14842414G>C | CA4991180 | FREM1 | c.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 |
9 | g.14842414G= | CA1835222348 | FREM1 | c.1640C= (p.Ala547=) n.2426C= c.1667C= (p.Ala556=) c.1259C= (p.Ala420=) c.743C= (p.Ala248=) n.2453C= n.2456C= n.2400C= | |
9 | g.14842414G>T | CA372960195 | FREM1 | c.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 | |
9 | g.14842415C>A | CA372960196 | FREM1 | c.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 | |
9 | g.14842415C>G | CA372960197 | FREM1 | c.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 | |
9 | g.14842415C>T | CA372960198 | FREM1 | c.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 | |
9 | g.14842416T>A | CA464024443 | FREM1 | c.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 | |
9 | g.14842416T>C | CA4991181 | FREM1 | c.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 |
9 | g.14842416T>G | CA464024444 | FREM1 | c.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 | |
9 | g.14842416T= | CA1835222349 | FREM1 | c.1638A= (p.Arg546=) n.2424A= c.1665A= (p.Arg555=) c.1257A= (p.Arg419=) c.741A= (p.Arg247=) n.2451A= n.2454A= n.2398A= | |
9 | g.14842417C>A | CA372960200 | FREM1 | c.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 | |
9 | g.14842417C= | CA1835222350 | FREM1 | c.1637G= (p.Arg546=) n.2423G= c.1664G= (p.Arg555=) c.1256G= (p.Arg419=) c.740G= (p.Arg247=) n.2450G= n.2453G= n.2397G= | |
9 | g.14842417C>G | CA372960199 | FREM1 | c.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 | |
9 | g.14842417C>T | CA4991182 | FREM1 | c.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 |
9 | g.14842418G>A | CA372960201 | FREM1 | c.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 |
9 | g.14842418G>C | CA372960202 | FREM1 | c.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 |
9 | g.14842418G= | CA1835222351 | FREM1 | c.1636C= (p.Arg546=) n.2422C= c.1663C= (p.Arg555=) c.1255C= (p.Arg419=) c.739C= (p.Arg247=) n.2449C= n.2452C= n.2396C= | |
9 | g.14842418G>T | CA4991183 | FREM1 | c.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 |
9 | g.14842419C>A | CA464024445 | FREM1 | c.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 | |
9 | g.14842419C>G | CA464024446 | FREM1 | c.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 | |
9 | g.14842419C>T | CA464024447 | FREM1 | c.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 |
9 | g.14842420A= | CA1835222352 | FREM1 | c.1634T= (p.Leu545=) n.2420T= c.1661T= (p.Leu554=) c.1253T= (p.Leu418=) c.737T= (p.Leu246=) n.2447T= n.2450T= n.2394T= | |
9 | g.14842420A>C | CA372960203 | FREM1 | c.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 | |
9 | g.14842420A>G | CA372960204 | FREM1 | c.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 |
9 | g.14842420A>T | CA372960205 | FREM1 | c.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 | |
9 | g.14842421G>A | CA464024448 | FREM1 | c.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 | |
9 | g.14842421G>C | CA372960206 | FREM1 | c.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 |
9 | g.14842421G>T | CA372960207 | FREM1 | c.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 | |
9 | g.14842421_14842429delinsGCATGGATC | CA1835222353 | FREM1 | c.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 | |
9 | g.14842422C>A | CA372960208 | FREM1 | c.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 | |
9 | g.14842422C>G | CA372960209 | FREM1 | c.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 | |
9 | g.14842422C>T | CA372960210 | FREM1 | c.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 | |
9 | g.14842423_14842430del | CA918415978 | FREM1 | c.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 |
9 | g.14842423A= | CA1835222354 | FREM1 | c.1631T= (p.Met544=) n.2417T= c.1658T= (p.Met553=) c.1250T= (p.Met417=) c.734T= (p.Met245=) n.2444T= n.2447T= n.2391T= | |
9 | g.14842423A>C | CA372960213 | FREM1 | c.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 |
9 | g.14842423A>G | CA372960212 | FREM1 | c.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 |
9 | g.14842423A>T | CA372960211 | FREM1 | c.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 | |
9 | g.14842424T>A | CA372960214 | FREM1 | c.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 | |
9 | g.14842424T>C | CA372960215 | FREM1 | c.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 |
9 | g.14842424T>G | CA372960216 | FREM1 | c.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 | |
9 | g.14842424T= | CA1835222355 | FREM1 | c.1630A= (p.Met544=) n.2416A= c.1657A= (p.Met553=) c.1249A= (p.Met417=) c.733A= (p.Met245=) n.2443A= n.2446A= n.2390A= | |
9 | g.14842425G>A | CA464024455 | FREM1 | c.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 | |
9 | g.14842425G>C | CA464024454 | FREM1 | c.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 | |
9 | g.14842425G>T | CA464024453 | FREM1 | c.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 | |
9 | g.14842426G>A | CA372960217 | FREM1 | c.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 | |
9 | g.14842426G>C | CA372960218 | FREM1 | c.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 | |
9 | g.14842426G>T | CA372960219 | FREM1 | c.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 | |
9 | g.14842427A= | CA1835222356 | FREM1 | c.1627T= (p.Ser543=) n.2413T= c.1654T= (p.Ser552=) c.1246T= (p.Ser416=) c.730T= (p.Ser244=) n.2440T= n.2443T= n.2387T= | |
9 | g.14842427A>C | CA372960220 | FREM1 | c.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 | |
9 | g.14842427A>G | CA372960221 | FREM1 | c.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 | |
9 | g.14842427A>T | CA372960222 | FREM1 | c.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 |
9 | g.14842428T>A | CA464024457 | FREM1 | c.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 | |
9 | g.14842428T>C | CA464024458 | FREM1 | c.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 | |
9 | g.14842428T>G | CA464024459 | FREM1 | c.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 | |
9 | g.14842429C>A | CA372960223 | FREM1 | c.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 | |
9 | g.14842429C>G | CA372960224 | FREM1 | c.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 |
9 | g.14842429C>T | CA372960225 | FREM1 | c.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 |
9 | g.14842430C>A | CA4991184 | FREM1 | c.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 |
9 | g.14842430C= | CA1835222357 | FREM1 | c.1624G= (p.Gly542=) n.2410G= c.1651G= (p.Gly551=) c.1243G= (p.Gly415=) c.727G= (p.Gly243=) n.2437G= n.2440G= n.2384G= | |
9 | g.14842430C>G | CA372960226 | FREM1 | c.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 | |
9 | g.14842430C>T | CA372960227 | FREM1 | c.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 | |
9 | g.14842431C>A | CA372960228 | FREM1 | c.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 | |
9 | g.14842431C>G | CA372960229 | FREM1 | c.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 | |
9 | g.14842431C>T | CA464024463 | FREM1 | c.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 |
9 | g.14842432T>A | CA372960230 | FREM1 | c.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 | |
9 | g.14842432T>C | CA372960231 | FREM1 | c.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 | |
9 | g.14842432T>G | CA372960232 | FREM1 | c.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 |
9 | g.14842432T= | CA1835222358 | FREM1 | c.1622A= (p.Gln541=) n.2408A= c.1649A= (p.Gln550=) c.1241A= (p.Gln414=) c.725A= (p.Gln242=) n.2435A= n.2438A= n.2382A= | |
9 | g.14842433G>A | CA189364176 | FREM1 | c.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 |
9 | g.14842433G>C | CA372960233 | FREM1 | c.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 | |
9 | g.14842433G= | CA1835222359 | FREM1 | c.1621C= (p.Gln541=) n.2407C= c.1648C= (p.Gln550=) c.1240C= (p.Gln414=) c.724C= (p.Gln242=) n.2434C= n.2437C= n.2381C= | |
9 | g.14842433G>T | CA372960234 | FREM1 | c.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 | |
9 | g.14842434G>A | CA464024466 | FREM1 | c.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 | |
9 | g.14842434G>C | CA372960235 | FREM1 | c.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 | |
9 | g.14842434G= | CA1835222360 | FREM1 | c.1620C= (p.Ile540=) n.2406C= c.1647C= (p.Ile549=) c.1239C= (p.Ile413=) c.723C= (p.Ile241=) n.2433C= n.2436C= n.2380C= | |
9 | g.14842434G>T | CA464024467 | FREM1 | c.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 |
9 | g.14842435A>C | CA372960236 | FREM1 | c.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 | |
9 | g.14842435A>G | CA372960237 | FREM1 | c.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 | |
9 | g.14842435A>T | CA372960238 | FREM1 | c.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 | |
9 | g.14842436T>A | CA372960241 | FREM1 | c.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 | |
9 | g.14842436T>C | CA372960240 | FREM1 | c.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 | |
9 | g.14842436T>G | CA372960239 | FREM1 | c.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 | |
9 | g.14842437C>A | CA464024468 | FREM1 | c.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 | |
9 | g.14842437C= | CA1835222361 | FREM1 | c.1617G= (p.Leu539=) n.2403G= c.1644G= (p.Leu548=) c.1236G= (p.Leu412=) c.720G= (p.Leu240=) n.2430G= n.2433G= n.2377G= | |
9 | g.14842437C>G | CA464024469 | FREM1 | c.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 |
9 | g.14842437C>T | CA464024471 | FREM1 | c.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 | |
9 | g.14842438A= | CA1835222362 | FREM1 | c.1616T= (p.Leu539=) n.2402T= c.1643T= (p.Leu548=) c.1235T= (p.Leu412=) c.719T= (p.Leu240=) n.2429T= n.2432T= n.2376T= | |
9 | g.14842438A>C | CA372960243 | FREM1 | c.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 | |
9 | g.14842438A>G | CA372960242 | FREM1 | c.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 | |
9 | g.14842438A>T | CA4991185 | FREM1 | c.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 |
9 | g.14842439G>A | CA464024472 | FREM1 | c.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 | |
9 | g.14842439G>C | CA372960244 | FREM1 | c.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 |
9 | g.14842439G= | CA1835222363 | FREM1 | c.1615C= (p.Leu539=) n.2401C= c.1642C= (p.Leu548=) c.1234C= (p.Leu412=) c.718C= (p.Leu240=) n.2428C= n.2431C= n.2375C= | |
9 | g.14842439G>T | CA372960245 | FREM1 | c.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 | |
9 | g.14842439_14842449del | CA2689439138 | FREM1 | c.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 |
9 | g.14842440G>A | CA464024474 | FREM1 | c.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 | |
9 | g.14842440G>C | CA372960246 | FREM1 | c.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 |
9 | g.14842440G= | CA1835222364 | FREM1 | c.1614C= (p.Ile538=) n.2400C= c.1641C= (p.Ile547=) c.1233C= (p.Ile411=) c.717C= (p.Ile239=) n.2427C= n.2430C= n.2374C= | |
9 | g.14842440G>T | CA464024477 | FREM1 | c.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 | |
9 | g.14842441A>C | CA372960247 | FREM1 | c.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 | |
9 | g.14842441A>G | CA372960248 | FREM1 | c.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 |
9 | g.14842441A>T | CA372960249 | FREM1 | c.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 | |
9 | g.14842442T>A | CA372960250 | FREM1 | c.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 | |
9 | g.14842442T>C | CA4991186 | FREM1 | c.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 |
9 | g.14842442T>G | CA372960251 | FREM1 | c.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 |
9 | g.14842442T= | CA1835222365 | FREM1 | c.1612A= (p.Ile538=) n.2398A= c.1639A= (p.Ile547=) c.1231A= (p.Ile411=) c.715A= (p.Ile239=) n.2425A= n.2428A= n.2372A= | |
9 | g.14842443G>A | CA464024479 | FREM1 | c.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 | |
9 | g.14842443G>C | CA464024480 | FREM1 | c.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 |
9 | g.14842443G= | CA1835222366 | FREM1 | c.1611C= (p.Thr537=) n.2397C= c.1638C= (p.Thr546=) c.1230C= (p.Thr410=) c.714C= (p.Thr238=) n.2424C= n.2427C= n.2371C= | |
9 | g.14842443G>T | CA464024481 | FREM1 | c.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 |