Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.14842473A= | CA1835222382 | FREM1 | c.1581T= (p.Asn527=) n.2367T= c.1608T= (p.Asn536=) c.1200T= (p.Asn400=) c.684T= (p.Asn228=) n.2394T= n.2397T= n.2341T= | |
9 | g.14842473A>C | CA372960317 | FREM1 | c.1581T>G (p.Asn527Lys) n.2367T>G c.1608T>G (p.Asn536Lys) c.1200T>G (p.Asn400Lys) c.684T>G (p.Asn228Lys) n.2394T>G n.2397T>G n.2341T>G | |
9 | g.14842473A>G | CA4991189 | FREM1 | c.1581T>C (p.Asn527=) n.2367T>C c.1608T>C (p.Asn536=) c.1200T>C (p.Asn400=) c.684T>C (p.Asn228=) n.2394T>C n.2397T>C n.2341T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842473A>T | CA372960318 | FREM1 | c.1581T>A (p.Asn527Lys) n.2367T>A c.1608T>A (p.Asn536Lys) c.1200T>A (p.Asn400Lys) c.684T>A (p.Asn228Lys) n.2394T>A n.2397T>A n.2341T>A | |
9 | g.14842474T>A | CA372960319 | FREM1 | c.1580A>T (p.Asn527Ile) n.2366A>T c.1607A>T (p.Asn536Ile) c.1199A>T (p.Asn400Ile) c.683A>T (p.Asn228Ile) n.2393A>T n.2396A>T n.2340A>T | |
9 | g.14842474T>C | CA189364192 | FREM1 | c.1580A>G (p.Asn527Ser) n.2366A>G c.1607A>G (p.Asn536Ser) c.1199A>G (p.Asn400Ser) c.683A>G (p.Asn228Ser) n.2393A>G n.2396A>G n.2340A>G | dbSNP gnomAD v4 |
9 | g.14842474T>G | CA4991190 | FREM1 | c.1580A>C (p.Asn527Thr) n.2366A>C c.1607A>C (p.Asn536Thr) c.1199A>C (p.Asn400Thr) c.683A>C (p.Asn228Thr) n.2393A>C n.2396A>C n.2340A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842474T= | CA1835222383 | FREM1 | c.1580A= (p.Asn527=) n.2366A= c.1607A= (p.Asn536=) c.1199A= (p.Asn400=) c.683A= (p.Asn228=) n.2393A= n.2396A= n.2340A= | |
9 | g.14842475T>A | CA372960320 | FREM1 | c.1579A>T (p.Asn527Tyr) n.2365A>T c.1606A>T (p.Asn536Tyr) c.1198A>T (p.Asn400Tyr) c.682A>T (p.Asn228Tyr) n.2392A>T n.2395A>T n.2339A>T | |
9 | g.14842475T>C | CA189364206 | FREM1 | c.1579A>G (p.Asn527Asp) n.2365A>G c.1606A>G (p.Asn536Asp) c.1198A>G (p.Asn400Asp) c.682A>G (p.Asn228Asp) n.2392A>G n.2395A>G n.2339A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842475T>G | CA372960321 | FREM1 | c.1579A>C (p.Asn527His) n.2365A>C c.1606A>C (p.Asn536His) c.1198A>C (p.Asn400His) c.682A>C (p.Asn228His) n.2392A>C n.2395A>C n.2339A>C | |
9 | g.14842475T= | CA1835222384 | FREM1 | c.1579A= (p.Asn527=) n.2365A= c.1606A= (p.Asn536=) c.1198A= (p.Asn400=) c.682A= (p.Asn228=) n.2392A= n.2395A= n.2339A= | |
9 | g.14842476G>A | CA464024516 | FREM1 | c.1578C>T (p.Thr526=) n.2364C>T c.1605C>T (p.Thr535=) c.1197C>T (p.Thr399=) c.681C>T (p.Thr227=) n.2391C>T n.2394C>T n.2338C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842476G>C | CA464024517 | FREM1 | c.1578C>G (p.Thr526=) n.2364C>G c.1605C>G (p.Thr535=) c.1197C>G (p.Thr399=) c.681C>G (p.Thr227=) n.2391C>G n.2394C>G n.2338C>G | |
9 | g.14842476G= | CA1835222385 | FREM1 | c.1578C= (p.Thr526=) n.2364C= c.1605C= (p.Thr535=) c.1197C= (p.Thr399=) c.681C= (p.Thr227=) n.2391C= n.2394C= n.2338C= | |
9 | g.14842476G>T | CA4991191 | FREM1 | c.1578C>A (p.Thr526=) n.2364C>A c.1605C>A (p.Thr535=) c.1197C>A (p.Thr399=) c.681C>A (p.Thr227=) n.2391C>A n.2394C>A n.2338C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842477G>A | CA372960322 | FREM1 | c.1577C>T (p.Thr526Ile) n.2363C>T c.1604C>T (p.Thr535Ile) c.1196C>T (p.Thr399Ile) c.680C>T (p.Thr227Ile) n.2390C>T n.2393C>T n.2337C>T | dbSNP gnomAD v4 |
9 | g.14842477G>C | CA372960323 | FREM1 | c.1577C>G (p.Thr526Ser) n.2363C>G c.1604C>G (p.Thr535Ser) c.1196C>G (p.Thr399Ser) c.680C>G (p.Thr227Ser) n.2390C>G n.2393C>G n.2337C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842477G= | CA1835222386 | FREM1 | c.1577C= (p.Thr526=) n.2363C= c.1604C= (p.Thr535=) c.1196C= (p.Thr399=) c.680C= (p.Thr227=) n.2390C= n.2393C= n.2337C= | |
9 | g.14842477G>T | CA372960324 | FREM1 | c.1577C>A (p.Thr526Asn) n.2363C>A c.1604C>A (p.Thr535Asn) c.1196C>A (p.Thr399Asn) c.680C>A (p.Thr227Asn) n.2390C>A n.2393C>A n.2337C>A | |
9 | g.14842478T>A | CA372960325 | FREM1 | c.1576A>T (p.Thr526Ser) n.2362A>T c.1603A>T (p.Thr535Ser) c.1195A>T (p.Thr399Ser) c.679A>T (p.Thr227Ser) n.2389A>T n.2392A>T n.2336A>T | |
9 | g.14842478T>C | CA372960326 | FREM1 | c.1576A>G (p.Thr526Ala) n.2362A>G c.1603A>G (p.Thr535Ala) c.1195A>G (p.Thr399Ala) c.679A>G (p.Thr227Ala) n.2389A>G n.2392A>G n.2336A>G | |
9 | g.14842478T>G | CA372960327 | FREM1 | c.1576A>C (p.Thr526Pro) n.2362A>C c.1603A>C (p.Thr535Pro) c.1195A>C (p.Thr399Pro) c.679A>C (p.Thr227Pro) n.2389A>C n.2392A>C n.2336A>C | |
9 | g.14842479T>A | CA464024522 | FREM1 | c.1575A>T (p.Ile525=) n.2361A>T c.1602A>T (p.Ile534=) c.1194A>T (p.Ile398=) c.678A>T (p.Ile226=) n.2388A>T n.2391A>T n.2335A>T | |
9 | g.14842479T>C | CA372960328 | FREM1 | c.1575A>G (p.Ile525Met) n.2361A>G c.1602A>G (p.Ile534Met) c.1194A>G (p.Ile398Met) c.678A>G (p.Ile226Met) n.2388A>G n.2391A>G n.2335A>G | |
9 | g.14842479T>G | CA464024523 | FREM1 | c.1575A>C (p.Ile525=) n.2361A>C c.1602A>C (p.Ile534=) c.1194A>C (p.Ile398=) c.678A>C (p.Ile226=) n.2388A>C n.2391A>C n.2335A>C | |
9 | g.14842480A= | CA1835222387 | FREM1 | c.1574T= (p.Ile525=) n.2360T= c.1601T= (p.Ile534=) c.1193T= (p.Ile398=) c.677T= (p.Ile226=) n.2387T= n.2390T= n.2334T= | |
9 | g.14842480A>C | CA372960329 | FREM1 | c.1574T>G (p.Ile525Arg) n.2360T>G c.1601T>G (p.Ile534Arg) c.1193T>G (p.Ile398Arg) c.677T>G (p.Ile226Arg) n.2387T>G n.2390T>G n.2334T>G | |
9 | g.14842480A>G | CA372960330 | FREM1 | c.1574T>C (p.Ile525Thr) n.2360T>C c.1601T>C (p.Ile534Thr) c.1193T>C (p.Ile398Thr) c.677T>C (p.Ile226Thr) n.2387T>C n.2390T>C n.2334T>C | gnomAD v4 |
9 | g.14842480A>T | CA4991192 | FREM1 | c.1574T>A (p.Ile525Lys) n.2360T>A c.1601T>A (p.Ile534Lys) c.1193T>A (p.Ile398Lys) c.677T>A (p.Ile226Lys) n.2387T>A n.2390T>A n.2334T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842481T>A | CA372960331 | FREM1 | c.1573A>T (p.Ile525Leu) n.2359A>T c.1600A>T (p.Ile534Leu) c.1192A>T (p.Ile398Leu) c.676A>T (p.Ile226Leu) n.2386A>T n.2389A>T n.2333A>T | dbSNP gnomAD v2 |
9 | g.14842481T>C | CA372960332 | FREM1 | c.1573A>G (p.Ile525Val) n.2359A>G c.1600A>G (p.Ile534Val) c.1192A>G (p.Ile398Val) c.676A>G (p.Ile226Val) n.2386A>G n.2389A>G n.2333A>G | gnomAD v4 |
9 | g.14842481T>G | CA372960333 | FREM1 | c.1573A>C (p.Ile525Leu) n.2359A>C c.1600A>C (p.Ile534Leu) c.1192A>C (p.Ile398Leu) c.676A>C (p.Ile226Leu) n.2386A>C n.2389A>C n.2333A>C | |
9 | g.14842481T= | CA1835222388 | FREM1 | c.1573A= (p.Ile525=) n.2359A= c.1600A= (p.Ile534=) c.1192A= (p.Ile398=) c.676A= (p.Ile226=) n.2386A= n.2389A= n.2333A= | |
9 | g.14842482G>A | CA4991193 | FREM1 | c.1572C>T (p.Leu524=) n.2358C>T c.1599C>T (p.Leu533=) c.1191C>T (p.Leu397=) c.675C>T (p.Leu225=) n.2385C>T n.2388C>T n.2332C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842482G>C | CA464024576 | FREM1 | c.1572C>G (p.Leu524=) n.2358C>G c.1599C>G (p.Leu533=) c.1191C>G (p.Leu397=) c.675C>G (p.Leu225=) n.2385C>G n.2388C>G n.2332C>G | |
9 | g.14842482G= | CA1835222389 | FREM1 | c.1572C= (p.Leu524=) n.2358C= c.1599C= (p.Leu533=) c.1191C= (p.Leu397=) c.675C= (p.Leu225=) n.2385C= n.2388C= n.2332C= | |
9 | g.14842482G>T | CA464024578 | FREM1 | c.1572C>A (p.Leu524=) n.2358C>A c.1599C>A (p.Leu533=) c.1191C>A (p.Leu397=) c.675C>A (p.Leu225=) n.2385C>A n.2388C>A n.2332C>A | |
9 | g.14842483A>C | CA372960334 | FREM1 | c.1571T>G (p.Leu524Arg) n.2357T>G c.1598T>G (p.Leu533Arg) c.1190T>G (p.Leu397Arg) c.674T>G (p.Leu225Arg) n.2384T>G n.2387T>G n.2331T>G | |
9 | g.14842483A>G | CA372960335 | FREM1 | c.1571T>C (p.Leu524Pro) n.2357T>C c.1598T>C (p.Leu533Pro) c.1190T>C (p.Leu397Pro) c.674T>C (p.Leu225Pro) n.2384T>C n.2387T>C n.2331T>C | |
9 | g.14842483A>T | CA372960336 | FREM1 | c.1571T>A (p.Leu524His) n.2357T>A c.1598T>A (p.Leu533His) c.1190T>A (p.Leu397His) c.674T>A (p.Leu225His) n.2384T>A n.2387T>A n.2331T>A | |
9 | g.14842484G>A | CA372960337 | FREM1 | c.1570C>T (p.Leu524Phe) n.2356C>T c.1597C>T (p.Leu533Phe) c.1189C>T (p.Leu397Phe) c.673C>T (p.Leu225Phe) n.2383C>T n.2386C>T n.2330C>T | gnomAD v4 |
9 | g.14842484G>C | CA4991194 | FREM1 | c.1570C>G (p.Leu524Val) n.2356C>G c.1597C>G (p.Leu533Val) c.1189C>G (p.Leu397Val) c.673C>G (p.Leu225Val) n.2383C>G n.2386C>G n.2330C>G | dbSNP ExAC gnomAD v2 |
9 | g.14842484G= | CA1835222390 | FREM1 | c.1570C= (p.Leu524=) n.2356C= c.1597C= (p.Leu533=) c.1189C= (p.Leu397=) c.673C= (p.Leu225=) n.2383C= n.2386C= n.2330C= | |
9 | g.14842484G>T | CA372960338 | FREM1 | c.1570C>A (p.Leu524Ile) n.2356C>A c.1597C>A (p.Leu533Ile) c.1189C>A (p.Leu397Ile) c.673C>A (p.Leu225Ile) n.2383C>A n.2386C>A n.2330C>A | COSMIC |
9 | g.14842485G>A | CA464024579 | FREM1 | c.1569C>T (p.Phe523=) n.2355C>T c.1596C>T (p.Phe532=) c.1188C>T (p.Phe396=) c.672C>T (p.Phe224=) n.2382C>T n.2385C>T n.2329C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842485G>C | CA372960339 | FREM1 | c.1569C>G (p.Phe523Leu) n.2355C>G c.1596C>G (p.Phe532Leu) c.1188C>G (p.Phe396Leu) c.672C>G (p.Phe224Leu) n.2382C>G n.2385C>G n.2329C>G | |
9 | g.14842485G= | CA1835222391 | FREM1 | c.1569C= (p.Phe523=) n.2355C= c.1596C= (p.Phe532=) c.1188C= (p.Phe396=) c.672C= (p.Phe224=) n.2382C= n.2385C= n.2329C= | |
9 | g.14842485G>T | CA372960340 | FREM1 | c.1569C>A (p.Phe523Leu) n.2355C>A c.1596C>A (p.Phe532Leu) c.1188C>A (p.Phe396Leu) c.672C>A (p.Phe224Leu) n.2382C>A n.2385C>A n.2329C>A | |
9 | g.14842486A>C | CA372960343 | FREM1 | c.1568T>G (p.Phe523Cys) n.2354T>G c.1595T>G (p.Phe532Cys) c.1187T>G (p.Phe396Cys) c.671T>G (p.Phe224Cys) n.2381T>G n.2384T>G n.2328T>G | |
9 | g.14842486A>G | CA372960341 | FREM1 | c.1568T>C (p.Phe523Ser) n.2354T>C c.1595T>C (p.Phe532Ser) c.1187T>C (p.Phe396Ser) c.671T>C (p.Phe224Ser) n.2381T>C n.2384T>C n.2328T>C | |
9 | g.14842486A>T | CA372960342 | FREM1 | c.1568T>A (p.Phe523Tyr) n.2354T>A c.1595T>A (p.Phe532Tyr) c.1187T>A (p.Phe396Tyr) c.671T>A (p.Phe224Tyr) n.2381T>A n.2384T>A n.2328T>A | |
9 | g.14842487A>C | CA372960344 | FREM1 | c.1567T>G (p.Phe523Val) n.2353T>G c.1594T>G (p.Phe532Val) c.1186T>G (p.Phe396Val) c.670T>G (p.Phe224Val) n.2380T>G n.2383T>G n.2327T>G | |
9 | g.14842487A>G | CA372960345 | FREM1 | c.1567T>C (p.Phe523Leu) n.2353T>C c.1594T>C (p.Phe532Leu) c.1186T>C (p.Phe396Leu) c.670T>C (p.Phe224Leu) n.2380T>C n.2383T>C n.2327T>C | |
9 | g.14842487A>T | CA372960346 | FREM1 | c.1567T>A (p.Phe523Ile) n.2353T>A c.1594T>A (p.Phe532Ile) c.1186T>A (p.Phe396Ile) c.670T>A (p.Phe224Ile) n.2380T>A n.2383T>A n.2327T>A | |
9 | g.14842488C>A | CA4991196 | FREM1 | c.1566G>T (p.Pro522=) n.2352G>T c.1593G>T (p.Pro531=) c.1185G>T (p.Pro395=) c.669G>T (p.Pro223=) n.2379G>T n.2382G>T n.2326G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842488C= | CA1835222392 | FREM1 | c.1566G= (p.Pro522=) n.2352G= c.1593G= (p.Pro531=) c.1185G= (p.Pro395=) c.669G= (p.Pro223=) n.2379G= n.2382G= n.2326G= | |
9 | g.14842488C>G | CA4991197 | FREM1 | c.1566G>C (p.Pro522=) n.2352G>C c.1593G>C (p.Pro531=) c.1185G>C (p.Pro395=) c.669G>C (p.Pro223=) n.2379G>C n.2382G>C n.2326G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842488C>T | CA4991195 | FREM1 | c.1566G>A (p.Pro522=) n.2352G>A c.1593G>A (p.Pro531=) c.1185G>A (p.Pro395=) c.669G>A (p.Pro223=) n.2379G>A n.2382G>A n.2326G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842489G>A | CA4991198 | FREM1 | c.1565C>T (p.Pro522Leu) n.2351C>T c.1592C>T (p.Pro531Leu) c.1184C>T (p.Pro395Leu) c.668C>T (p.Pro223Leu) n.2378C>T n.2381C>T n.2325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842489G>C | CA372960347 | FREM1 | c.1565C>G (p.Pro522Arg) n.2351C>G c.1592C>G (p.Pro531Arg) c.1184C>G (p.Pro395Arg) c.668C>G (p.Pro223Arg) n.2378C>G n.2381C>G n.2325C>G | gnomAD v4 |
9 | g.14842489G= | CA1835222393 | FREM1 | c.1565C= (p.Pro522=) n.2351C= c.1592C= (p.Pro531=) c.1184C= (p.Pro395=) c.668C= (p.Pro223=) n.2378C= n.2381C= n.2325C= | |
9 | g.14842489G>T | CA372960348 | FREM1 | c.1565C>A (p.Pro522Gln) n.2351C>A c.1592C>A (p.Pro531Gln) c.1184C>A (p.Pro395Gln) c.668C>A (p.Pro223Gln) n.2378C>A n.2381C>A n.2325C>A | |
9 | g.14842493del | CA2579304636 | FREM1 | c.1565del (p.Pro522ArgfsTer4) n.2351del c.1592del (p.Pro531ArgfsTer4) c.1184del (p.Pro395ArgfsTer4) c.668del (p.Pro223ArgfsTer4) n.2378del n.2381del n.2325del | |
9 | g.14842490G>A | CA372960349 | FREM1 | c.1564C>T (p.Pro522Ser) n.2350C>T c.1591C>T (p.Pro531Ser) c.1183C>T (p.Pro395Ser) c.667C>T (p.Pro223Ser) n.2377C>T n.2380C>T n.2324C>T | dbSNP |
9 | g.14842490G>C | CA372960350 | FREM1 | c.1564C>G (p.Pro522Ala) n.2350C>G c.1591C>G (p.Pro531Ala) c.1183C>G (p.Pro395Ala) c.667C>G (p.Pro223Ala) n.2377C>G n.2380C>G n.2324C>G | |
9 | g.14842490G= | CA1835222394 | FREM1 | c.1564C= (p.Pro522=) n.2350C= c.1591C= (p.Pro531=) c.1183C= (p.Pro395=) c.667C= (p.Pro223=) n.2377C= n.2380C= n.2324C= | |
9 | g.14842490G>T | CA372960351 | FREM1 | c.1564C>A (p.Pro522Thr) n.2350C>A c.1591C>A (p.Pro531Thr) c.1183C>A (p.Pro395Thr) c.667C>A (p.Pro223Thr) n.2377C>A n.2380C>A n.2324C>A | |
9 | g.14842491G>A | CA4991199 | FREM1 | c.1563C>T (p.Pro521=) n.2349C>T c.1590C>T (p.Pro530=) c.1182C>T (p.Pro394=) c.666C>T (p.Pro222=) n.2376C>T n.2379C>T n.2323C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842491G>C | CA464024584 | FREM1 | c.1563C>G (p.Pro521=) n.2349C>G c.1590C>G (p.Pro530=) c.1182C>G (p.Pro394=) c.666C>G (p.Pro222=) n.2376C>G n.2379C>G n.2323C>G | |
9 | g.14842491G= | CA1835222395 | FREM1 | c.1563C= (p.Pro521=) n.2349C= c.1590C= (p.Pro530=) c.1182C= (p.Pro394=) c.666C= (p.Pro222=) n.2376C= n.2379C= n.2323C= | |
9 | g.14842491G>T | CA464024586 | FREM1 | c.1563C>A (p.Pro521=) n.2349C>A c.1590C>A (p.Pro530=) c.1182C>A (p.Pro394=) c.666C>A (p.Pro222=) n.2376C>A n.2379C>A n.2323C>A | |
9 | g.14842492G>A | CA372960353 | FREM1 | c.1562C>T (p.Pro521Leu) n.2348C>T c.1589C>T (p.Pro530Leu) c.1181C>T (p.Pro394Leu) c.665C>T (p.Pro222Leu) n.2375C>T n.2378C>T n.2322C>T | gnomAD v4 |
9 | g.14842492G>C | CA372960352 | FREM1 | c.1562C>G (p.Pro521Arg) n.2348C>G c.1589C>G (p.Pro530Arg) c.1181C>G (p.Pro394Arg) c.665C>G (p.Pro222Arg) n.2375C>G n.2378C>G n.2322C>G | |
9 | g.14842492G>T | CA372960354 | FREM1 | c.1562C>A (p.Pro521His) n.2348C>A c.1589C>A (p.Pro530His) c.1181C>A (p.Pro394His) c.665C>A (p.Pro222His) n.2375C>A n.2378C>A n.2322C>A | |
9 | g.14842493G>A | CA372960355 | FREM1 | c.1561C>T (p.Pro521Ser) n.2347C>T c.1588C>T (p.Pro530Ser) c.1180C>T (p.Pro394Ser) c.664C>T (p.Pro222Ser) n.2374C>T n.2377C>T n.2321C>T | dbSNP |
9 | g.14842493G>C | CA372960356 | FREM1 | c.1561C>G (p.Pro521Ala) n.2347C>G c.1588C>G (p.Pro530Ala) c.1180C>G (p.Pro394Ala) c.664C>G (p.Pro222Ala) n.2374C>G n.2377C>G n.2321C>G | |
9 | g.14842493G= | CA1835222396 | FREM1 | c.1561C= (p.Pro521=) n.2347C= c.1588C= (p.Pro530=) c.1180C= (p.Pro394=) c.664C= (p.Pro222=) n.2374C= n.2377C= n.2321C= | |
9 | g.14842493G>T | CA372960357 | FREM1 | c.1561C>A (p.Pro521Thr) n.2347C>A c.1588C>A (p.Pro530Thr) c.1180C>A (p.Pro394Thr) c.664C>A (p.Pro222Thr) n.2374C>A n.2377C>A n.2321C>A | dbSNP gnomAD v4 |
9 | g.14842494A= | CA1835222397 | FREM1 | c.1560T= (p.Ser520=) n.2346T= c.1587T= (p.Ser529=) c.1179T= (p.Ser393=) c.663T= (p.Ser221=) n.2373T= n.2376T= n.2320T= | |
9 | g.14842494A>C | CA372960358 | FREM1 | c.1560T>G (p.Ser520Arg) n.2346T>G c.1587T>G (p.Ser529Arg) c.1179T>G (p.Ser393Arg) c.663T>G (p.Ser221Arg) n.2373T>G n.2376T>G n.2320T>G | |
9 | g.14842494A>G | CA4991200 | FREM1 | c.1560T>C (p.Ser520=) n.2346T>C c.1587T>C (p.Ser529=) c.1179T>C (p.Ser393=) c.663T>C (p.Ser221=) n.2373T>C n.2376T>C n.2320T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842494A>T | CA372960359 | FREM1 | c.1560T>A (p.Ser520Arg) n.2346T>A c.1587T>A (p.Ser529Arg) c.1179T>A (p.Ser393Arg) c.663T>A (p.Ser221Arg) n.2373T>A n.2376T>A n.2320T>A | |
9 | g.14842495C>A | CA372960362 | FREM1 | c.1559G>T (p.Ser520Ile) n.2345G>T c.1586G>T (p.Ser529Ile) c.1178G>T (p.Ser393Ile) c.662G>T (p.Ser221Ile) n.2372G>T n.2375G>T n.2319G>T | |
9 | g.14842495C= | CA1835222398 | FREM1 | c.1559G= (p.Ser520=) n.2345G= c.1586G= (p.Ser529=) c.1178G= (p.Ser393=) c.662G= (p.Ser221=) n.2372G= n.2375G= n.2319G= | |
9 | g.14842495C>G | CA372960360 | FREM1 | c.1559G>C (p.Ser520Thr) n.2345G>C c.1586G>C (p.Ser529Thr) c.1178G>C (p.Ser393Thr) c.662G>C (p.Ser221Thr) n.2372G>C n.2375G>C n.2319G>C | |
9 | g.14842495C>T | CA372960361 | FREM1 | c.1559G>A (p.Ser520Asn) n.2345G>A c.1586G>A (p.Ser529Asn) c.1178G>A (p.Ser393Asn) c.662G>A (p.Ser221Asn) n.2372G>A n.2375G>A n.2319G>A | dbSNP gnomAD v4 |
9 | g.14842496T>A | CA372960363 | FREM1 | c.1558A>T (p.Ser520Cys) n.2344A>T c.1585A>T (p.Ser529Cys) c.1177A>T (p.Ser393Cys) c.661A>T (p.Ser221Cys) n.2371A>T n.2374A>T n.2318A>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842496T>C | CA372960364 | FREM1 | c.1558A>G (p.Ser520Gly) n.2344A>G c.1585A>G (p.Ser529Gly) c.1177A>G (p.Ser393Gly) c.661A>G (p.Ser221Gly) n.2371A>G n.2374A>G n.2318A>G | |
9 | g.14842496T>G | CA372960365 | FREM1 | c.1558A>C (p.Ser520Arg) n.2344A>C c.1585A>C (p.Ser529Arg) c.1177A>C (p.Ser393Arg) c.661A>C (p.Ser221Arg) n.2371A>C n.2374A>C n.2318A>C | |
9 | g.14842496T= | CA1835222399 | FREM1 | c.1558A= (p.Ser520=) n.2344A= c.1585A= (p.Ser529=) c.1177A= (p.Ser393=) c.661A= (p.Ser221=) n.2371A= n.2374A= n.2318A= | |
9 | g.14842497A= | CA1835222400 | FREM1 | c.1557T= (p.Asp519=) n.2343T= c.1584T= (p.Asp528=) c.1176T= (p.Asp392=) c.660T= (p.Asp220=) n.2370T= n.2373T= n.2317T= | |
9 | g.14842497A>C | CA372960366 | FREM1 | c.1557T>G (p.Asp519Glu) n.2343T>G c.1584T>G (p.Asp528Glu) c.1176T>G (p.Asp392Glu) c.660T>G (p.Asp220Glu) n.2370T>G n.2373T>G n.2317T>G | |
9 | g.14842497A>G | CA464024588 | FREM1 | c.1557T>C (p.Asp519=) n.2343T>C c.1584T>C (p.Asp528=) c.1176T>C (p.Asp392=) c.660T>C (p.Asp220=) n.2370T>C n.2373T>C n.2317T>C | dbSNP gnomAD v4 |
9 | g.14842497A>T | CA372960367 | FREM1 | c.1557T>A (p.Asp519Glu) n.2343T>A c.1584T>A (p.Asp528Glu) c.1176T>A (p.Asp392Glu) c.660T>A (p.Asp220Glu) n.2370T>A n.2373T>A n.2317T>A | |
9 | g.14842498T>A | CA372960368 | FREM1 | c.1556A>T (p.Asp519Val) n.2342A>T c.1583A>T (p.Asp528Val) c.1175A>T (p.Asp392Val) c.659A>T (p.Asp220Val) n.2369A>T n.2372A>T n.2316A>T | gnomAD v4 |
9 | g.14842498T>C | CA189364230 | FREM1 | c.1556A>G (p.Asp519Gly) n.2342A>G c.1583A>G (p.Asp528Gly) c.1175A>G (p.Asp392Gly) c.659A>G (p.Asp220Gly) n.2369A>G n.2372A>G n.2316A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842498T>G | CA372960369 | FREM1 | c.1556A>C (p.Asp519Ala) n.2342A>C c.1583A>C (p.Asp528Ala) c.1175A>C (p.Asp392Ala) c.659A>C (p.Asp220Ala) n.2369A>C n.2372A>C n.2316A>C | |
9 | g.14842498T= | CA1835222401 | FREM1 | c.1556A= (p.Asp519=) n.2342A= c.1583A= (p.Asp528=) c.1175A= (p.Asp392=) c.659A= (p.Asp220=) n.2369A= n.2372A= n.2316A= | |
9 | g.14842499C>A | CA372960370 | FREM1 | c.1555G>T (p.Asp519Tyr) n.2341G>T c.1582G>T (p.Asp528Tyr) c.1174G>T (p.Asp392Tyr) c.658G>T (p.Asp220Tyr) n.2368G>T n.2371G>T n.2315G>T | |
9 | g.14842499C= | CA1835222402 | FREM1 | c.1555G= (p.Asp519=) n.2341G= c.1582G= (p.Asp528=) c.1174G= (p.Asp392=) c.658G= (p.Asp220=) n.2368G= n.2371G= n.2315G= | |
9 | g.14842499C>G | CA372960371 | FREM1 | c.1555G>C (p.Asp519His) n.2341G>C c.1582G>C (p.Asp528His) c.1174G>C (p.Asp392His) c.658G>C (p.Asp220His) n.2368G>C n.2371G>C n.2315G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842499C>T | CA372960372 | FREM1 | c.1555G>A (p.Asp519Asn) n.2341G>A c.1582G>A (p.Asp528Asn) c.1174G>A (p.Asp392Asn) c.658G>A (p.Asp220Asn) n.2368G>A n.2371G>A n.2315G>A | |
9 | g.14842500A= | CA1835222403 | FREM1 | c.1554T= (p.Asp518=) n.2340T= c.1581T= (p.Asp527=) c.1173T= (p.Asp391=) c.657T= (p.Asp219=) n.2367T= n.2370T= n.2314T= | |
9 | g.14842500A>C | CA372960373 | FREM1 | c.1554T>G (p.Asp518Glu) n.2340T>G c.1581T>G (p.Asp527Glu) c.1173T>G (p.Asp391Glu) c.657T>G (p.Asp219Glu) n.2367T>G n.2370T>G n.2314T>G | |
9 | g.14842500A>G | CA464024591 | FREM1 | c.1554T>C (p.Asp518=) n.2340T>C c.1581T>C (p.Asp527=) c.1173T>C (p.Asp391=) c.657T>C (p.Asp219=) n.2367T>C n.2370T>C n.2314T>C | dbSNP gnomAD v4 |
9 | g.14842500A>T | CA372960374 | FREM1 | c.1554T>A (p.Asp518Glu) n.2340T>A c.1581T>A (p.Asp527Glu) c.1173T>A (p.Asp391Glu) c.657T>A (p.Asp219Glu) n.2367T>A n.2370T>A n.2314T>A | |
9 | g.14842501T>A | CA372960375 | FREM1 | c.1553A>T (p.Asp518Val) n.2339A>T c.1580A>T (p.Asp527Val) c.1172A>T (p.Asp391Val) c.656A>T (p.Asp219Val) n.2366A>T n.2369A>T n.2313A>T | |
9 | g.14842501T>C | CA372960376 | FREM1 | c.1553A>G (p.Asp518Gly) n.2339A>G c.1580A>G (p.Asp527Gly) c.1172A>G (p.Asp391Gly) c.656A>G (p.Asp219Gly) n.2366A>G n.2369A>G n.2313A>G | |
9 | g.14842501T>G | CA372960377 | FREM1 | c.1553A>C (p.Asp518Ala) n.2339A>C c.1580A>C (p.Asp527Ala) c.1172A>C (p.Asp391Ala) c.656A>C (p.Asp219Ala) n.2366A>C n.2369A>C n.2313A>C | gnomAD v4 |
9 | g.14842502C>A | CA372960378 | FREM1 | c.1552G>T (p.Asp518Tyr) n.2338G>T c.1579G>T (p.Asp527Tyr) c.1171G>T (p.Asp391Tyr) c.655G>T (p.Asp219Tyr) n.2365G>T n.2368G>T n.2312G>T | dbSNP |
9 | g.14842502C= | CA1835222404 | FREM1 | c.1552G= (p.Asp518=) n.2338G= c.1579G= (p.Asp527=) c.1171G= (p.Asp391=) c.655G= (p.Asp219=) n.2365G= n.2368G= n.2312G= | |
9 | g.14842502C>G | CA372960379 | FREM1 | c.1552G>C (p.Asp518His) n.2338G>C c.1579G>C (p.Asp527His) c.1171G>C (p.Asp391His) c.655G>C (p.Asp219His) n.2365G>C n.2368G>C n.2312G>C | |
9 | g.14842502C>T | CA372960380 | FREM1 | c.1552G>A (p.Asp518Asn) n.2338G>A c.1579G>A (p.Asp527Asn) c.1171G>A (p.Asp391Asn) c.655G>A (p.Asp219Asn) n.2365G>A n.2368G>A n.2312G>A | |
9 | g.14842503_14842514del | CA2689439140 | FREM1 | c.1541_1552del (p.Val514_Lys517del) n.2327_2338del c.1568_1579del (p.Val523_Lys526del) c.1160_1171del (p.Val387_Lys390del) c.644_655del (p.Val215_Lys218del) n.2354_2365del n.2357_2368del n.2301_2312del | gnomAD v4 |
9 | g.14842503T>A | CA372960381 | FREM1 | c.1551A>T (p.Lys517Asn) n.2337A>T c.1578A>T (p.Lys526Asn) c.1170A>T (p.Lys390Asn) c.654A>T (p.Lys218Asn) n.2364A>T n.2367A>T n.2311A>T | |
9 | g.14842503T>C | CA464024594 | FREM1 | c.1551A>G (p.Lys517=) n.2337A>G c.1578A>G (p.Lys526=) c.1170A>G (p.Lys390=) c.654A>G (p.Lys218=) n.2364A>G n.2367A>G n.2311A>G | |
9 | g.14842503T>G | CA372960382 | FREM1 | c.1551A>C (p.Lys517Asn) n.2337A>C c.1578A>C (p.Lys526Asn) c.1170A>C (p.Lys390Asn) c.654A>C (p.Lys218Asn) n.2364A>C n.2367A>C n.2311A>C | |
9 | g.14842504T>A | CA372960383 | FREM1 | c.1550A>T (p.Lys517Ile) n.2336A>T c.1577A>T (p.Lys526Ile) c.1169A>T (p.Lys390Ile) c.653A>T (p.Lys218Ile) n.2363A>T n.2366A>T n.2310A>T | |
9 | g.14842504T>C | CA372960384 | FREM1 | c.1550A>G (p.Lys517Arg) n.2336A>G c.1577A>G (p.Lys526Arg) c.1169A>G (p.Lys390Arg) c.653A>G (p.Lys218Arg) n.2363A>G n.2366A>G n.2310A>G | |
9 | g.14842504T>G | CA372960385 | FREM1 | c.1550A>C (p.Lys517Thr) n.2336A>C c.1577A>C (p.Lys526Thr) c.1169A>C (p.Lys390Thr) c.653A>C (p.Lys218Thr) n.2363A>C n.2366A>C n.2310A>C | |
9 | g.14842505T>A | CA372960386 | FREM1 | c.1549A>T (p.Lys517Ter) n.2335A>T c.1576A>T (p.Lys526Ter) c.1168A>T (p.Lys390Ter) c.652A>T (p.Lys218Ter) n.2362A>T n.2365A>T n.2309A>T | |
9 | g.14842505T>C | CA372960387 | FREM1 | c.1549A>G (p.Lys517Glu) n.2335A>G c.1576A>G (p.Lys526Glu) c.1168A>G (p.Lys390Glu) c.652A>G (p.Lys218Glu) n.2362A>G n.2365A>G n.2309A>G | |
9 | g.14842505T>G | CA372960388 | FREM1 | c.1549A>C (p.Lys517Gln) n.2335A>C c.1576A>C (p.Lys526Gln) c.1168A>C (p.Lys390Gln) c.652A>C (p.Lys218Gln) n.2362A>C n.2365A>C n.2309A>C | |
9 | g.14842506G>A | CA464024598 | FREM1 | c.1548C>T (p.Pro516=) n.2334C>T c.1575C>T (p.Pro525=) c.1167C>T (p.Pro389=) c.651C>T (p.Pro217=) n.2361C>T n.2364C>T n.2308C>T | COSMIC |
9 | g.14842506G>C | CA464024599 | FREM1 | c.1548C>G (p.Pro516=) n.2334C>G c.1575C>G (p.Pro525=) c.1167C>G (p.Pro389=) c.651C>G (p.Pro217=) n.2361C>G n.2364C>G n.2308C>G | |
9 | g.14842506G>T | CA464024600 | FREM1 | c.1548C>A (p.Pro516=) n.2334C>A c.1575C>A (p.Pro525=) c.1167C>A (p.Pro389=) c.651C>A (p.Pro217=) n.2361C>A n.2364C>A n.2308C>A | |
9 | g.14842507G>A | CA372960390 | FREM1 | c.1547C>T (p.Pro516Leu) n.2333C>T c.1574C>T (p.Pro525Leu) c.1166C>T (p.Pro389Leu) c.650C>T (p.Pro217Leu) n.2360C>T n.2363C>T n.2307C>T | dbSNP gnomAD v4 |
9 | g.14842507G>C | CA372960389 | FREM1 | c.1547C>G (p.Pro516Arg) n.2333C>G c.1574C>G (p.Pro525Arg) c.1166C>G (p.Pro389Arg) c.650C>G (p.Pro217Arg) n.2360C>G n.2363C>G n.2307C>G | COSMIC |
9 | g.14842507G= | CA1835222405 | FREM1 | c.1547C= (p.Pro516=) n.2333C= c.1574C= (p.Pro525=) c.1166C= (p.Pro389=) c.650C= (p.Pro217=) n.2360C= n.2363C= n.2307C= | |
9 | g.14842507G>T | CA4991201 | FREM1 | c.1547C>A (p.Pro516His) n.2333C>A c.1574C>A (p.Pro525His) c.1166C>A (p.Pro389His) c.650C>A (p.Pro217His) n.2360C>A n.2363C>A n.2307C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842508G>A | CA372960391 | FREM1 | c.1546C>T (p.Pro516Ser) n.2332C>T c.1573C>T (p.Pro525Ser) c.1165C>T (p.Pro389Ser) c.649C>T (p.Pro217Ser) n.2359C>T n.2362C>T n.2306C>T | COSMIC |
9 | g.14842508G>C | CA372960392 | FREM1 | c.1546C>G (p.Pro516Ala) n.2332C>G c.1573C>G (p.Pro525Ala) c.1165C>G (p.Pro389Ala) c.649C>G (p.Pro217Ala) n.2359C>G n.2362C>G n.2306C>G | gnomAD v4 |
9 | g.14842508G>T | CA372960393 | FREM1 | c.1546C>A (p.Pro516Thr) n.2332C>A c.1573C>A (p.Pro525Thr) c.1165C>A (p.Pro389Thr) c.649C>A (p.Pro217Thr) n.2359C>A n.2362C>A n.2306C>A | |
9 | g.14842509C>A | CA372960394 | FREM1 | c.1545G>T (p.Leu515Phe) n.2331G>T c.1572G>T (p.Leu524Phe) c.1164G>T (p.Leu388Phe) c.648G>T (p.Leu216Phe) n.2358G>T n.2361G>T n.2305G>T | dbSNP gnomAD v4 |
9 | g.14842509C= | CA1835222406 | FREM1 | c.1545G= (p.Leu515=) n.2331G= c.1572G= (p.Leu524=) c.1164G= (p.Leu388=) c.648G= (p.Leu216=) n.2358G= n.2361G= n.2305G= | |
9 | g.14842509C>G | CA372960395 | FREM1 | c.1545G>C (p.Leu515Phe) n.2331G>C c.1572G>C (p.Leu524Phe) c.1164G>C (p.Leu388Phe) c.648G>C (p.Leu216Phe) n.2358G>C n.2361G>C n.2305G>C | |
9 | g.14842509C>T | CA464024601 | FREM1 | c.1545G>A (p.Leu515=) n.2331G>A c.1572G>A (p.Leu524=) c.1164G>A (p.Leu388=) c.648G>A (p.Leu216=) n.2358G>A n.2361G>A n.2305G>A | |
9 | g.14842510A>C | CA372960396 | FREM1 | c.1544T>G (p.Leu515Trp) n.2330T>G c.1571T>G (p.Leu524Trp) c.1163T>G (p.Leu388Trp) c.647T>G (p.Leu216Trp) n.2357T>G n.2360T>G n.2304T>G | |
9 | g.14842510A>G | CA372960398 | FREM1 | c.1544T>C (p.Leu515Ser) n.2330T>C c.1571T>C (p.Leu524Ser) c.1163T>C (p.Leu388Ser) c.647T>C (p.Leu216Ser) n.2357T>C n.2360T>C n.2304T>C | |
9 | g.14842510A>T | CA372960397 | FREM1 | c.1544T>A (p.Leu515Ter) n.2330T>A c.1571T>A (p.Leu524Ter) c.1163T>A (p.Leu388Ter) c.647T>A (p.Leu216Ter) n.2357T>A n.2360T>A n.2304T>A | |
9 | g.14842511A>C | CA372960399 | FREM1 | c.1543T>G (p.Leu515Val) n.2329T>G c.1570T>G (p.Leu524Val) c.1162T>G (p.Leu388Val) c.646T>G (p.Leu216Val) n.2356T>G n.2359T>G n.2303T>G | |
9 | g.14842511A>G | CA464024605 | FREM1 | c.1543T>C (p.Leu515=) n.2329T>C c.1570T>C (p.Leu524=) c.1162T>C (p.Leu388=) c.646T>C (p.Leu216=) n.2356T>C n.2359T>C n.2303T>C | |
9 | g.14842511A>T | CA372960400 | FREM1 | c.1543T>A (p.Leu515Met) n.2329T>A c.1570T>A (p.Leu524Met) c.1162T>A (p.Leu388Met) c.646T>A (p.Leu216Met) n.2356T>A n.2359T>A n.2303T>A | |
9 | g.14842512G>A | CA464024606 | FREM1 | c.1542C>T (p.Val514=) n.2328C>T c.1569C>T (p.Val523=) c.1161C>T (p.Val387=) c.645C>T (p.Val215=) n.2355C>T n.2358C>T n.2302C>T | |
9 | g.14842512G>C | CA464024608 | FREM1 | c.1542C>G (p.Val514=) n.2328C>G c.1569C>G (p.Val523=) c.1161C>G (p.Val387=) c.645C>G (p.Val215=) n.2355C>G n.2358C>G n.2302C>G | dbSNP |
9 | g.14842512G>T | CA464024607 | FREM1 | c.1542C>A (p.Val514=) n.2328C>A c.1569C>A (p.Val523=) c.1161C>A (p.Val387=) c.645C>A (p.Val215=) n.2355C>A n.2358C>A n.2302C>A | gnomAD v4 |
9 | g.14842513A>C | CA372960401 | FREM1 | c.1541T>G (p.Val514Gly) n.2327T>G c.1568T>G (p.Val523Gly) c.1160T>G (p.Val387Gly) c.644T>G (p.Val215Gly) n.2354T>G n.2357T>G n.2301T>G | |
9 | g.14842513A>G | CA372960402 | FREM1 | c.1541T>C (p.Val514Ala) n.2327T>C c.1568T>C (p.Val523Ala) c.1160T>C (p.Val387Ala) c.644T>C (p.Val215Ala) n.2354T>C n.2357T>C n.2301T>C | |
9 | g.14842513A>T | CA372960403 | FREM1 | c.1541T>A (p.Val514Asp) n.2327T>A c.1568T>A (p.Val523Asp) c.1160T>A (p.Val387Asp) c.644T>A (p.Val215Asp) n.2354T>A n.2357T>A n.2301T>A | gnomAD v4 |
9 | g.14842514C>A | CA372960404 | FREM1 | c.1540G>T (p.Val514Phe) n.2326G>T c.1567G>T (p.Val523Phe) c.1159G>T (p.Val387Phe) c.643G>T (p.Val215Phe) n.2353G>T n.2356G>T n.2300G>T | |
9 | g.14842514C= | CA1835222407 | FREM1 | c.1540G= (p.Val514=) n.2326G= c.1567G= (p.Val523=) c.1159G= (p.Val387=) c.643G= (p.Val215=) n.2353G= n.2356G= n.2300G= | |
9 | g.14842514C>G | CA372960405 | FREM1 | c.1540G>C (p.Val514Leu) n.2326G>C c.1567G>C (p.Val523Leu) c.1159G>C (p.Val387Leu) c.643G>C (p.Val215Leu) n.2353G>C n.2356G>C n.2300G>C | |
9 | g.14842514C>T | CA4991202 | FREM1 | c.1540G>A (p.Val514Ile) n.2326G>A c.1567G>A (p.Val523Ile) c.1159G>A (p.Val387Ile) c.643G>A (p.Val215Ile) n.2353G>A n.2356G>A n.2300G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842515G>A | CA4991203 | FREM1 | c.1539C>T (p.Asn513=) n.2325C>T c.1566C>T (p.Asn522=) c.1158C>T (p.Asn386=) c.642C>T (p.Asn214=) n.2352C>T n.2355C>T n.2299C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842515G>C | CA372960406 | FREM1 | c.1539C>G (p.Asn513Lys) n.2325C>G c.1566C>G (p.Asn522Lys) c.1158C>G (p.Asn386Lys) c.642C>G (p.Asn214Lys) n.2352C>G n.2355C>G n.2299C>G | |
9 | g.14842515G= | CA1835222408 | FREM1 | c.1539C= (p.Asn513=) n.2325C= c.1566C= (p.Asn522=) c.1158C= (p.Asn386=) c.642C= (p.Asn214=) n.2352C= n.2355C= n.2299C= | |
9 | g.14842515G>T | CA372960407 | FREM1 | c.1539C>A (p.Asn513Lys) n.2325C>A c.1566C>A (p.Asn522Lys) c.1158C>A (p.Asn386Lys) c.642C>A (p.Asn214Lys) n.2352C>A n.2355C>A n.2299C>A | gnomAD v4 |
9 | g.14842516T>A | CA4991204 | FREM1 | c.1538A>T (p.Asn513Ile) n.2324A>T c.1565A>T (p.Asn522Ile) c.1157A>T (p.Asn386Ile) c.641A>T (p.Asn214Ile) n.2351A>T n.2354A>T n.2298A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842516T>C | CA372960409 | FREM1 | c.1538A>G (p.Asn513Ser) n.2324A>G c.1565A>G (p.Asn522Ser) c.1157A>G (p.Asn386Ser) c.641A>G (p.Asn214Ser) n.2351A>G n.2354A>G n.2298A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842516T>G | CA372960408 | FREM1 | c.1538A>C (p.Asn513Thr) n.2324A>C c.1565A>C (p.Asn522Thr) c.1157A>C (p.Asn386Thr) c.641A>C (p.Asn214Thr) n.2351A>C n.2354A>C n.2298A>C | |
9 | g.14842516T= | CA1835222409 | FREM1 | c.1538A= (p.Asn513=) n.2324A= c.1565A= (p.Asn522=) c.1157A= (p.Asn386=) c.641A= (p.Asn214=) n.2351A= n.2354A= n.2298A= | |
9 | g.14842517T>A | CA372960410 | FREM1 | c.1537A>T (p.Asn513Tyr) n.2323A>T c.1564A>T (p.Asn522Tyr) c.1156A>T (p.Asn386Tyr) c.640A>T (p.Asn214Tyr) n.2350A>T n.2353A>T n.2297A>T | |
9 | g.14842517T>C | CA372960411 | FREM1 | c.1537A>G (p.Asn513Asp) n.2323A>G c.1564A>G (p.Asn522Asp) c.1156A>G (p.Asn386Asp) c.640A>G (p.Asn214Asp) n.2350A>G n.2353A>G n.2297A>G | |
9 | g.14842517T>G | CA372960412 | FREM1 | c.1537A>C (p.Asn513His) n.2323A>C c.1564A>C (p.Asn522His) c.1156A>C (p.Asn386His) c.640A>C (p.Asn214His) n.2350A>C n.2353A>C n.2297A>C | |
9 | g.14842518G>A | CA464024612 | FREM1 | c.1536C>T (p.Ile512=) n.2322C>T c.1563C>T (p.Ile521=) c.1155C>T (p.Ile385=) c.639C>T (p.Ile213=) n.2349C>T n.2352C>T n.2296C>T | |
9 | g.14842518G>C | CA372960413 | FREM1 | c.1536C>G (p.Ile512Met) n.2322C>G c.1563C>G (p.Ile521Met) c.1155C>G (p.Ile385Met) c.639C>G (p.Ile213Met) n.2349C>G n.2352C>G n.2296C>G | |
9 | g.14842518G>T | CA464024613 | FREM1 | c.1536C>A (p.Ile512=) n.2322C>A c.1563C>A (p.Ile521=) c.1155C>A (p.Ile385=) c.639C>A (p.Ile213=) n.2349C>A n.2352C>A n.2296C>A | |
9 | g.14842519A>C | CA372960414 | FREM1 | c.1535T>G (p.Ile512Ser) n.2321T>G c.1562T>G (p.Ile521Ser) c.1154T>G (p.Ile385Ser) c.638T>G (p.Ile213Ser) n.2348T>G n.2351T>G n.2295T>G | |
9 | g.14842519A>G | CA372960415 | FREM1 | c.1535T>C (p.Ile512Thr) n.2321T>C c.1562T>C (p.Ile521Thr) c.1154T>C (p.Ile385Thr) c.638T>C (p.Ile213Thr) n.2348T>C n.2351T>C n.2295T>C | |
9 | g.14842519A>T | CA372960416 | FREM1 | c.1535T>A (p.Ile512Asn) n.2321T>A c.1562T>A (p.Ile521Asn) c.1154T>A (p.Ile385Asn) c.638T>A (p.Ile213Asn) n.2348T>A n.2351T>A n.2295T>A | |
9 | g.14842520T>A | CA372960419 | FREM1 | c.1534A>T (p.Ile512Phe) n.2320A>T c.1561A>T (p.Ile521Phe) c.1153A>T (p.Ile385Phe) c.637A>T (p.Ile213Phe) n.2347A>T n.2350A>T n.2294A>T | |
9 | g.14842520T>C | CA372960417 | FREM1 | c.1534A>G (p.Ile512Val) n.2320A>G c.1561A>G (p.Ile521Val) c.1153A>G (p.Ile385Val) c.637A>G (p.Ile213Val) n.2347A>G n.2350A>G n.2294A>G | |
9 | g.14842520T>G | CA372960418 | FREM1 | c.1534A>C (p.Ile512Leu) n.2320A>C c.1561A>C (p.Ile521Leu) c.1153A>C (p.Ile385Leu) c.637A>C (p.Ile213Leu) n.2347A>C n.2350A>C n.2294A>C | |
9 | g.14842521G>A | CA189364240 | FREM1 | c.1533C>T (p.Pro511=) n.2319C>T c.1560C>T (p.Pro520=) c.1152C>T (p.Pro384=) c.636C>T (p.Pro212=) n.2346C>T n.2349C>T n.2293C>T | dbSNP gnomAD v4 |
9 | g.14842521G>C | CA464024618 | FREM1 | c.1533C>G (p.Pro511=) n.2319C>G c.1560C>G (p.Pro520=) c.1152C>G (p.Pro384=) c.636C>G (p.Pro212=) n.2346C>G n.2349C>G n.2293C>G | |
9 | g.14842521G= | CA1835222410 | FREM1 | c.1533C= (p.Pro511=) n.2319C= c.1560C= (p.Pro520=) c.1152C= (p.Pro384=) c.636C= (p.Pro212=) n.2346C= n.2349C= n.2293C= | |
9 | g.14842521G>T | CA464024617 | FREM1 | c.1533C>A (p.Pro511=) n.2319C>A c.1560C>A (p.Pro520=) c.1152C>A (p.Pro384=) c.636C>A (p.Pro212=) n.2346C>A n.2349C>A n.2293C>A | |
9 | g.14842522G>A | CA372960420 | FREM1 | c.1532C>T (p.Pro511Leu) n.2318C>T c.1559C>T (p.Pro520Leu) c.1151C>T (p.Pro384Leu) c.635C>T (p.Pro212Leu) n.2345C>T n.2348C>T n.2292C>T | |
9 | g.14842522G>C | CA372960421 | FREM1 | c.1532C>G (p.Pro511Arg) n.2318C>G c.1559C>G (p.Pro520Arg) c.1151C>G (p.Pro384Arg) c.635C>G (p.Pro212Arg) n.2345C>G n.2348C>G n.2292C>G | |
9 | g.14842522G>T | CA372960422 | FREM1 | c.1532C>A (p.Pro511His) n.2318C>A c.1559C>A (p.Pro520His) c.1151C>A (p.Pro384His) c.635C>A (p.Pro212His) n.2345C>A n.2348C>A n.2292C>A | COSMIC |
9 | g.14842523G>A | CA372960423 | FREM1 | c.1531C>T (p.Pro511Ser) n.2317C>T c.1558C>T (p.Pro520Ser) c.1150C>T (p.Pro384Ser) c.634C>T (p.Pro212Ser) n.2344C>T n.2347C>T n.2291C>T | gnomAD v4 |
9 | g.14842523G>C | CA372960424 | FREM1 | c.1531C>G (p.Pro511Ala) n.2317C>G c.1558C>G (p.Pro520Ala) c.1150C>G (p.Pro384Ala) c.634C>G (p.Pro212Ala) n.2344C>G n.2347C>G n.2291C>G | |
9 | g.14842523G>T | CA372960425 | FREM1 | c.1531C>A (p.Pro511Thr) n.2317C>A c.1558C>A (p.Pro520Thr) c.1150C>A (p.Pro384Thr) c.634C>A (p.Pro212Thr) n.2344C>A n.2347C>A n.2291C>A | |
9 | g.14842524G>A | CA4991205 | FREM1 | c.1530C>T (p.Phe510=) n.2316C>T c.1557C>T (p.Phe519=) c.1149C>T (p.Phe383=) c.633C>T (p.Phe211=) n.2343C>T n.2346C>T n.2290C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842524G>C | CA372960427 | FREM1 | c.1530C>G (p.Phe510Leu) n.2316C>G c.1557C>G (p.Phe519Leu) c.1149C>G (p.Phe383Leu) c.633C>G (p.Phe211Leu) n.2343C>G n.2346C>G n.2290C>G | |
9 | g.14842524G= | CA1835222411 | FREM1 | c.1530C= (p.Phe510=) n.2316C= c.1557C= (p.Phe519=) c.1149C= (p.Phe383=) c.633C= (p.Phe211=) n.2343C= n.2346C= n.2290C= | |
9 | g.14842524G>T | CA372960426 | FREM1 | c.1530C>A (p.Phe510Leu) n.2316C>A c.1557C>A (p.Phe519Leu) c.1149C>A (p.Phe383Leu) c.633C>A (p.Phe211Leu) n.2343C>A n.2346C>A n.2290C>A | gnomAD v4 |
9 | g.14842525A= | CA1835222412 | FREM1 | c.1529T= (p.Phe510=) n.2315T= c.1556T= (p.Phe519=) c.1148T= (p.Phe383=) c.632T= (p.Phe211=) n.2342T= n.2345T= n.2289T= | |
9 | g.14842525A>C | CA372960428 | FREM1 | c.1529T>G (p.Phe510Cys) n.2315T>G c.1556T>G (p.Phe519Cys) c.1148T>G (p.Phe383Cys) c.632T>G (p.Phe211Cys) n.2342T>G n.2345T>G n.2289T>G | |
9 | g.14842525A>G | CA372960429 | FREM1 | c.1529T>C (p.Phe510Ser) n.2315T>C c.1556T>C (p.Phe519Ser) c.1148T>C (p.Phe383Ser) c.632T>C (p.Phe211Ser) n.2342T>C n.2345T>C n.2289T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842525A>T | CA372960430 | FREM1 | c.1529T>A (p.Phe510Tyr) n.2315T>A c.1556T>A (p.Phe519Tyr) c.1148T>A (p.Phe383Tyr) c.632T>A (p.Phe211Tyr) n.2342T>A n.2345T>A n.2289T>A | |
9 | g.14842526A>C | CA372960431 | FREM1 | c.1528T>G (p.Phe510Val) n.2314T>G c.1555T>G (p.Phe519Val) c.1147T>G (p.Phe383Val) c.631T>G (p.Phe211Val) n.2341T>G n.2344T>G n.2288T>G | |
9 | g.14842526A>G | CA372960432 | FREM1 | c.1528T>C (p.Phe510Leu) n.2314T>C c.1555T>C (p.Phe519Leu) c.1147T>C (p.Phe383Leu) c.631T>C (p.Phe211Leu) n.2341T>C n.2344T>C n.2288T>C | |
9 | g.14842526A>T | CA372960433 | FREM1 | c.1528T>A (p.Phe510Ile) n.2314T>A c.1555T>A (p.Phe519Ile) c.1147T>A (p.Phe383Ile) c.631T>A (p.Phe211Ile) n.2341T>A n.2344T>A n.2288T>A | |
9 | g.14842527T>A | CA372960434 | FREM1 | c.1527A>T (p.Lys509Asn) n.2313A>T c.1554A>T (p.Lys518Asn) c.1146A>T (p.Lys382Asn) c.630A>T (p.Lys210Asn) n.2340A>T n.2343A>T n.2287A>T | |
9 | g.14842527T>C | CA4991206 | FREM1 | c.1527A>G (p.Lys509=) n.2313A>G c.1554A>G (p.Lys518=) c.1146A>G (p.Lys382=) c.630A>G (p.Lys210=) n.2340A>G n.2343A>G n.2287A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842527T>G | CA372960435 | FREM1 | c.1527A>C (p.Lys509Asn) n.2313A>C c.1554A>C (p.Lys518Asn) c.1146A>C (p.Lys382Asn) c.630A>C (p.Lys210Asn) n.2340A>C n.2343A>C n.2287A>C | |
9 | g.14842527T= | CA1835222413 | FREM1 | c.1527A= (p.Lys509=) n.2313A= c.1554A= (p.Lys518=) c.1146A= (p.Lys382=) c.630A= (p.Lys210=) n.2340A= n.2343A= n.2287A= | |
9 | g.14842528T>A | CA372960436 | FREM1 | c.1526A>T (p.Lys509Ile) n.2312A>T c.1553A>T (p.Lys518Ile) c.1145A>T (p.Lys382Ile) c.629A>T (p.Lys210Ile) n.2339A>T n.2342A>T n.2286A>T | |
9 | g.14842528T>C | CA4991207 | FREM1 | c.1526A>G (p.Lys509Arg) n.2312A>G c.1553A>G (p.Lys518Arg) c.1145A>G (p.Lys382Arg) c.629A>G (p.Lys210Arg) n.2339A>G n.2342A>G n.2286A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842528T>G | CA372960437 | FREM1 | c.1526A>C (p.Lys509Thr) n.2312A>C c.1553A>C (p.Lys518Thr) c.1145A>C (p.Lys382Thr) c.629A>C (p.Lys210Thr) n.2339A>C n.2342A>C n.2286A>C | |
9 | g.14842528T= | CA1835222414 | FREM1 | c.1526A= (p.Lys509=) n.2312A= c.1553A= (p.Lys518=) c.1145A= (p.Lys382=) c.629A= (p.Lys210=) n.2339A= n.2342A= n.2286A= | |
9 | g.14842529T>A | CA372960440 | FREM1 | c.1525A>T (p.Lys509Ter) n.2311A>T c.1552A>T (p.Lys518Ter) c.1144A>T (p.Lys382Ter) c.628A>T (p.Lys210Ter) n.2338A>T n.2341A>T n.2285A>T | |
9 | g.14842529T>C | CA372960438 | FREM1 | c.1525A>G (p.Lys509Glu) n.2311A>G c.1552A>G (p.Lys518Glu) c.1144A>G (p.Lys382Glu) c.628A>G (p.Lys210Glu) n.2338A>G n.2341A>G n.2285A>G | |
9 | g.14842529T>G | CA372960439 | FREM1 | c.1525A>C (p.Lys509Gln) n.2311A>C c.1552A>C (p.Lys518Gln) c.1144A>C (p.Lys382Gln) c.628A>C (p.Lys210Gln) n.2338A>C n.2341A>C n.2285A>C | |
9 | g.14842530G>A | CA464024625 | FREM1 | c.1524C>T (p.His508=) n.2310C>T c.1551C>T (p.His517=) c.1143C>T (p.His381=) c.627C>T (p.His209=) n.2337C>T n.2340C>T n.2284C>T | |
9 | g.14842530G>C | CA372960441 | FREM1 | c.1524C>G (p.His508Gln) n.2310C>G c.1551C>G (p.His517Gln) c.1143C>G (p.His381Gln) c.627C>G (p.His209Gln) n.2337C>G n.2340C>G n.2284C>G | |
9 | g.14842530G= | CA1835222415 | FREM1 | c.1524C= (p.His508=) n.2310C= c.1551C= (p.His517=) c.1143C= (p.His381=) c.627C= (p.His209=) n.2337C= n.2340C= n.2284C= | |
9 | g.14842530G>T | CA189364252 | FREM1 | c.1524C>A (p.His508Gln) n.2310C>A c.1551C>A (p.His517Gln) c.1143C>A (p.His381Gln) c.627C>A (p.His209Gln) n.2337C>A n.2340C>A n.2284C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842531T>A | CA372960442 | FREM1 | c.1523A>T (p.His508Leu) n.2309A>T c.1550A>T (p.His517Leu) c.1142A>T (p.His381Leu) c.626A>T (p.His209Leu) n.2336A>T n.2339A>T n.2283A>T | |
9 | g.14842531T>C | CA372960443 | FREM1 | c.1523A>G (p.His508Arg) n.2309A>G c.1550A>G (p.His517Arg) c.1142A>G (p.His381Arg) c.626A>G (p.His209Arg) n.2336A>G n.2339A>G n.2283A>G | |
9 | g.14842531T>G | CA372960444 | FREM1 | c.1523A>C (p.His508Pro) n.2309A>C c.1550A>C (p.His517Pro) c.1142A>C (p.His381Pro) c.626A>C (p.His209Pro) n.2336A>C n.2339A>C n.2283A>C | |
9 | g.14842532G>A | CA372960445 | FREM1 | c.1522C>T (p.His508Tyr) n.2308C>T c.1549C>T (p.His517Tyr) c.1141C>T (p.His381Tyr) c.625C>T (p.His209Tyr) n.2335C>T n.2338C>T n.2282C>T | |
9 | g.14842532G>C | CA372960446 | FREM1 | c.1522C>G (p.His508Asp) n.2308C>G c.1549C>G (p.His517Asp) c.1141C>G (p.His381Asp) c.625C>G (p.His209Asp) n.2335C>G n.2338C>G n.2282C>G | |
9 | g.14842532G>T | CA372960447 | FREM1 | c.1522C>A (p.His508Asn) n.2308C>A c.1549C>A (p.His517Asn) c.1141C>A (p.His381Asn) c.625C>A (p.His209Asn) n.2335C>A n.2338C>A n.2282C>A | |
9 | g.14842533A= | CA1835222416 | FREM1 | c.1521T= (p.Arg507=) n.2307T= c.1548T= (p.Arg516=) c.1140T= (p.Arg380=) c.624T= (p.Arg208=) n.2334T= n.2337T= n.2281T= | |
9 | g.14842533A>C | CA464024628 | FREM1 | c.1521T>G (p.Arg507=) n.2307T>G c.1548T>G (p.Arg516=) c.1140T>G (p.Arg380=) c.624T>G (p.Arg208=) n.2334T>G n.2337T>G n.2281T>G | |
9 | g.14842533A>G | CA4991208 | FREM1 | c.1521T>C (p.Arg507=) n.2307T>C c.1548T>C (p.Arg516=) c.1140T>C (p.Arg380=) c.624T>C (p.Arg208=) n.2334T>C n.2337T>C n.2281T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842533A>T | CA464024629 | FREM1 | c.1521T>A (p.Arg507=) n.2307T>A c.1548T>A (p.Arg516=) c.1140T>A (p.Arg380=) c.624T>A (p.Arg208=) n.2334T>A n.2337T>A n.2281T>A | |
9 | g.14842534C>A | CA372960448 | FREM1 | c.1520G>T (p.Arg507Leu) n.2306G>T c.1547G>T (p.Arg516Leu) c.1139G>T (p.Arg380Leu) c.623G>T (p.Arg208Leu) n.2333G>T n.2336G>T n.2280G>T | COSMIC |
9 | g.14842534C= | CA1835222417 | FREM1 | c.1520G= (p.Arg507=) n.2306G= c.1547G= (p.Arg516=) c.1139G= (p.Arg380=) c.623G= (p.Arg208=) n.2333G= n.2336G= n.2280G= | |
9 | g.14842534C>G | CA372960449 | FREM1 | c.1520G>C (p.Arg507Pro) n.2306G>C c.1547G>C (p.Arg516Pro) c.1139G>C (p.Arg380Pro) c.623G>C (p.Arg208Pro) n.2333G>C n.2336G>C n.2280G>C | |
9 | g.14842534C>T | CA4991209 | FREM1 | c.1520G>A (p.Arg507His) n.2306G>A c.1547G>A (p.Arg516His) c.1139G>A (p.Arg380His) c.623G>A (p.Arg208His) n.2333G>A n.2336G>A n.2280G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842535G>A | CA4991210 | FREM1 | c.1519C>T (p.Arg507Cys) n.2305C>T c.1546C>T (p.Arg516Cys) c.1138C>T (p.Arg380Cys) c.622C>T (p.Arg208Cys) n.2332C>T n.2335C>T n.2279C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842535G>C | CA372960450 | FREM1 | c.1519C>G (p.Arg507Gly) n.2305C>G c.1546C>G (p.Arg516Gly) c.1138C>G (p.Arg380Gly) c.622C>G (p.Arg208Gly) n.2332C>G n.2335C>G n.2279C>G | |
9 | g.14842535G= | CA1835222418 | FREM1 | c.1519C= (p.Arg507=) n.2305C= c.1546C= (p.Arg516=) c.1138C= (p.Arg380=) c.622C= (p.Arg208=) n.2332C= n.2335C= n.2279C= | |
9 | g.14842535G>T | CA372960451 | FREM1 | c.1519C>A (p.Arg507Ser) n.2305C>A c.1546C>A (p.Arg516Ser) c.1138C>A (p.Arg380Ser) c.622C>A (p.Arg208Ser) n.2332C>A n.2335C>A n.2279C>A | dbSNP gnomAD v4 COSMIC |
9 | g.14842536G>A | CA4991212 | FREM1 | c.1518C>T (p.Ile506=) n.2304C>T c.1545C>T (p.Ile515=) c.1137C>T (p.Ile379=) c.621C>T (p.Ile207=) n.2331C>T n.2334C>T n.2278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842536G>C | CA372960452 | FREM1 | c.1518C>G (p.Ile506Met) n.2304C>G c.1545C>G (p.Ile515Met) c.1137C>G (p.Ile379Met) c.621C>G (p.Ile207Met) n.2331C>G n.2334C>G n.2278C>G | |
9 | g.14842536G= | CA1835222419 | FREM1 | c.1518C= (p.Ile506=) n.2304C= c.1545C= (p.Ile515=) c.1137C= (p.Ile379=) c.621C= (p.Ile207=) n.2331C= n.2334C= n.2278C= | |
9 | g.14842536G>T | CA4991211 | FREM1 | c.1518C>A (p.Ile506=) n.2304C>A c.1545C>A (p.Ile515=) c.1137C>A (p.Ile379=) c.621C>A (p.Ile207=) n.2331C>A n.2334C>A n.2278C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842537A>C | CA372960453 | FREM1 | c.1517T>G (p.Ile506Ser) n.2303T>G c.1544T>G (p.Ile515Ser) c.1136T>G (p.Ile379Ser) c.620T>G (p.Ile207Ser) n.2330T>G n.2333T>G n.2277T>G | |
9 | g.14842537A>G | CA372960454 | FREM1 | c.1517T>C (p.Ile506Thr) n.2303T>C c.1544T>C (p.Ile515Thr) c.1136T>C (p.Ile379Thr) c.620T>C (p.Ile207Thr) n.2330T>C n.2333T>C n.2277T>C | |
9 | g.14842537A>T | CA372960455 | FREM1 | c.1517T>A (p.Ile506Asn) n.2303T>A c.1544T>A (p.Ile515Asn) c.1136T>A (p.Ile379Asn) c.620T>A (p.Ile207Asn) n.2330T>A n.2333T>A n.2277T>A | |
9 | g.14842538T>A | CA372960456 | FREM1 | c.1516A>T (p.Ile506Phe) n.2302A>T c.1543A>T (p.Ile515Phe) c.1135A>T (p.Ile379Phe) c.619A>T (p.Ile207Phe) n.2329A>T n.2332A>T n.2276A>T | |
9 | g.14842538T>C | CA372960457 | FREM1 | c.1516A>G (p.Ile506Val) n.2302A>G c.1543A>G (p.Ile515Val) c.1135A>G (p.Ile379Val) c.619A>G (p.Ile207Val) n.2329A>G n.2332A>G n.2276A>G | gnomAD v4 |
9 | g.14842538T>G | CA4991213 | FREM1 | c.1516A>C (p.Ile506Leu) n.2302A>C c.1543A>C (p.Ile515Leu) c.1135A>C (p.Ile379Leu) c.619A>C (p.Ile207Leu) n.2329A>C n.2332A>C n.2276A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842538T= | CA1835222420 | FREM1 | c.1516A= (p.Ile506=) n.2302A= c.1543A= (p.Ile515=) c.1135A= (p.Ile379=) c.619A= (p.Ile207=) n.2329A= n.2332A= n.2276A= | |
9 | g.14842539G>A | CA464024633 | FREM1 | c.1515C>T (p.Ser505=) n.2301C>T c.1542C>T (p.Ser514=) c.1134C>T (p.Ser378=) c.618C>T (p.Ser206=) n.2328C>T n.2331C>T n.2275C>T | |
9 | g.14842539G>C | CA372960458 | FREM1 | c.1515C>G (p.Ser505Arg) n.2301C>G c.1542C>G (p.Ser514Arg) c.1134C>G (p.Ser378Arg) c.618C>G (p.Ser206Arg) n.2328C>G n.2331C>G n.2275C>G | |
9 | g.14842539G= | CA1835222421 | FREM1 | c.1515C= (p.Ser505=) n.2301C= c.1542C= (p.Ser514=) c.1134C= (p.Ser378=) c.618C= (p.Ser206=) n.2328C= n.2331C= n.2275C= | |
9 | g.14842539G>T | CA372960459 | FREM1 | c.1515C>A (p.Ser505Arg) n.2301C>A c.1542C>A (p.Ser514Arg) c.1134C>A (p.Ser378Arg) c.618C>A (p.Ser206Arg) n.2328C>A n.2331C>A n.2275C>A | dbSNP gnomAD v2 |
9 | g.14842540C>A | CA372960460 | FREM1 | c.1514G>T (p.Ser505Ile) n.2300G>T c.1541G>T (p.Ser514Ile) c.1133G>T (p.Ser378Ile) c.617G>T (p.Ser206Ile) n.2327G>T n.2330G>T n.2274G>T | |
9 | g.14842540C= | CA1835222422 | FREM1 | c.1514G= (p.Ser505=) n.2300G= c.1541G= (p.Ser514=) c.1133G= (p.Ser378=) c.617G= (p.Ser206=) n.2327G= n.2330G= n.2274G= | |
9 | g.14842540C>G | CA372960461 | FREM1 | c.1514G>C (p.Ser505Thr) n.2300G>C c.1541G>C (p.Ser514Thr) c.1133G>C (p.Ser378Thr) c.617G>C (p.Ser206Thr) n.2327G>C n.2330G>C n.2274G>C | dbSNP gnomAD v4 |
9 | g.14842540C>T | CA372960462 | FREM1 | c.1514G>A (p.Ser505Asn) n.2300G>A c.1541G>A (p.Ser514Asn) c.1133G>A (p.Ser378Asn) c.617G>A (p.Ser206Asn) n.2327G>A n.2330G>A n.2274G>A | |
9 | g.14842541T>A | CA372960465 | FREM1 | c.1513A>T (p.Ser505Cys) n.2299A>T c.1540A>T (p.Ser514Cys) c.1132A>T (p.Ser378Cys) c.616A>T (p.Ser206Cys) n.2326A>T n.2329A>T n.2273A>T | |
9 | g.14842541T>C | CA372960463 | FREM1 | c.1513A>G (p.Ser505Gly) n.2299A>G c.1540A>G (p.Ser514Gly) c.1132A>G (p.Ser378Gly) c.616A>G (p.Ser206Gly) n.2326A>G n.2329A>G n.2273A>G | |
9 | g.14842541T>G | CA372960464 | FREM1 | c.1513A>C (p.Ser505Arg) n.2299A>C c.1540A>C (p.Ser514Arg) c.1132A>C (p.Ser378Arg) c.616A>C (p.Ser206Arg) n.2326A>C n.2329A>C n.2273A>C | |
9 | g.14842542G>A | CA4991214 | FREM1 | c.1512C>T (p.His504=) n.2298C>T c.1539C>T (p.His513=) c.1131C>T (p.His377=) c.615C>T (p.His205=) n.2325C>T n.2328C>T n.2272C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842542G>C | CA372960467 | FREM1 | c.1512C>G (p.His504Gln) n.2298C>G c.1539C>G (p.His513Gln) c.1131C>G (p.His377Gln) c.615C>G (p.His205Gln) n.2325C>G n.2328C>G n.2272C>G | |
9 | g.14842542G= | CA1835222423 | FREM1 | c.1512C= (p.His504=) n.2298C= c.1539C= (p.His513=) c.1131C= (p.His377=) c.615C= (p.His205=) n.2325C= n.2328C= n.2272C= | |
9 | g.14842542G>T | CA372960466 | FREM1 | c.1512C>A (p.His504Gln) n.2298C>A c.1539C>A (p.His513Gln) c.1131C>A (p.His377Gln) c.615C>A (p.His205Gln) n.2325C>A n.2328C>A n.2272C>A | gnomAD v4 |
9 | g.14842543T>A | CA372960468 | FREM1 | c.1511A>T (p.His504Leu) n.2297A>T c.1538A>T (p.His513Leu) c.1130A>T (p.His377Leu) c.614A>T (p.His205Leu) n.2324A>T n.2327A>T n.2271A>T | |
9 | g.14842543T>C | CA372960469 | FREM1 | c.1511A>G (p.His504Arg) n.2297A>G c.1538A>G (p.His513Arg) c.1130A>G (p.His377Arg) c.614A>G (p.His205Arg) n.2324A>G n.2327A>G n.2271A>G | |
9 | g.14842543T>G | CA372960470 | FREM1 | c.1511A>C (p.His504Pro) n.2297A>C c.1538A>C (p.His513Pro) c.1130A>C (p.His377Pro) c.614A>C (p.His205Pro) n.2324A>C n.2327A>C n.2271A>C | |
9 | g.14842544G>A | CA372960471 | FREM1 | c.1510C>T (p.His504Tyr) n.2296C>T c.1537C>T (p.His513Tyr) c.1129C>T (p.His377Tyr) c.613C>T (p.His205Tyr) n.2323C>T n.2326C>T n.2270C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842544G>C | CA372960472 | FREM1 | c.1510C>G (p.His504Asp) n.2296C>G c.1537C>G (p.His513Asp) c.1129C>G (p.His377Asp) c.613C>G (p.His205Asp) n.2323C>G n.2326C>G n.2270C>G | |
9 | g.14842544G= | CA1835222424 | FREM1 | c.1510C= (p.His504=) n.2296C= c.1537C= (p.His513=) c.1129C= (p.His377=) c.613C= (p.His205=) n.2323C= n.2326C= n.2270C= | |
9 | g.14842544G>T | CA372960473 | FREM1 | c.1510C>A (p.His504Asn) n.2296C>A c.1537C>A (p.His513Asn) c.1129C>A (p.His377Asn) c.613C>A (p.His205Asn) n.2323C>A n.2326C>A n.2270C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842545A>C | CA372960474 | FREM1 | c.1509T>G (p.His503Gln) n.2295T>G c.1536T>G (p.His512Gln) c.1128T>G (p.His376Gln) c.612T>G (p.His204Gln) n.2322T>G n.2325T>G n.2269T>G | |
9 | g.14842545A>G | CA464024634 | FREM1 | c.1509T>C (p.His503=) n.2295T>C c.1536T>C (p.His512=) c.1128T>C (p.His376=) c.612T>C (p.His204=) n.2322T>C n.2325T>C n.2269T>C | |
9 | g.14842545A>T | CA372960475 | FREM1 | c.1509T>A (p.His503Gln) n.2295T>A c.1536T>A (p.His512Gln) c.1128T>A (p.His376Gln) c.612T>A (p.His204Gln) n.2322T>A n.2325T>A n.2269T>A | |
9 | g.14842546T>A | CA372960476 | FREM1 | c.1508A>T (p.His503Leu) n.2294A>T c.1535A>T (p.His512Leu) c.1127A>T (p.His376Leu) c.611A>T (p.His204Leu) n.2321A>T n.2324A>T n.2268A>T | |
9 | g.14842546T>C | CA4991215 | FREM1 | c.1508A>G (p.His503Arg) n.2294A>G c.1535A>G (p.His512Arg) c.1127A>G (p.His376Arg) c.611A>G (p.His204Arg) n.2321A>G n.2324A>G n.2268A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842546T>G | CA372960477 | FREM1 | c.1508A>C (p.His503Pro) n.2294A>C c.1535A>C (p.His512Pro) c.1127A>C (p.His376Pro) c.611A>C (p.His204Pro) n.2321A>C n.2324A>C n.2268A>C | |
9 | g.14842546T= | CA1835222425 | FREM1 | c.1508A= (p.His503=) n.2294A= c.1535A= (p.His512=) c.1127A= (p.His376=) c.611A= (p.His204=) n.2321A= n.2324A= n.2268A= | |
9 | g.14842547G>A | CA372960480 | FREM1 | c.1507C>T (p.His503Tyr) n.2293C>T c.1534C>T (p.His512Tyr) c.1126C>T (p.His376Tyr) c.610C>T (p.His204Tyr) n.2320C>T n.2323C>T n.2267C>T | dbSNP |
9 | g.14842547G>C | CA372960479 | FREM1 | c.1507C>G (p.His503Asp) n.2293C>G c.1534C>G (p.His512Asp) c.1126C>G (p.His376Asp) c.610C>G (p.His204Asp) n.2320C>G n.2323C>G n.2267C>G | |
9 | g.14842547G= | CA1835222426 | FREM1 | c.1507C= (p.His503=) n.2293C= c.1534C= (p.His512=) c.1126C= (p.His376=) c.610C= (p.His204=) n.2320C= n.2323C= n.2267C= | |
9 | g.14842547G>T | CA372960478 | FREM1 | c.1507C>A (p.His503Asn) n.2293C>A c.1534C>A (p.His512Asn) c.1126C>A (p.His376Asn) c.610C>A (p.His204Asn) n.2320C>A n.2323C>A n.2267C>A | |
9 | g.14842548G>A | CA464024635 | FREM1 | c.1506C>T (p.Gly502=) n.2292C>T c.1533C>T (p.Gly511=) c.1125C>T (p.Gly375=) c.609C>T (p.Gly203=) n.2319C>T n.2322C>T n.2266C>T | |
9 | g.14842548G>C | CA464024636 | FREM1 | c.1506C>G (p.Gly502=) n.2292C>G c.1533C>G (p.Gly511=) c.1125C>G (p.Gly375=) c.609C>G (p.Gly203=) n.2319C>G n.2322C>G n.2266C>G | dbSNP |
9 | g.14842548G= | CA1835222427 | FREM1 | c.1506C= (p.Gly502=) n.2292C= c.1533C= (p.Gly511=) c.1125C= (p.Gly375=) c.609C= (p.Gly203=) n.2319C= n.2322C= n.2266C= | |
9 | g.14842548G>T | CA464024637 | FREM1 | c.1506C>A (p.Gly502=) n.2292C>A c.1533C>A (p.Gly511=) c.1125C>A (p.Gly375=) c.609C>A (p.Gly203=) n.2319C>A n.2322C>A n.2266C>A | |
9 | g.14842549C>A | CA372960481 | FREM1 | c.1505G>T (p.Gly502Val) n.2291G>T c.1532G>T (p.Gly511Val) c.1124G>T (p.Gly375Val) c.608G>T (p.Gly203Val) n.2318G>T n.2321G>T n.2265G>T | |
9 | g.14842549C>G | CA372960482 | FREM1 | c.1505G>C (p.Gly502Ala) n.2291G>C c.1532G>C (p.Gly511Ala) c.1124G>C (p.Gly375Ala) c.608G>C (p.Gly203Ala) n.2318G>C n.2321G>C n.2265G>C | |
9 | g.14842549C>T | CA372960483 | FREM1 | c.1505G>A (p.Gly502Asp) n.2291G>A c.1532G>A (p.Gly511Asp) c.1124G>A (p.Gly375Asp) c.608G>A (p.Gly203Asp) n.2318G>A n.2321G>A n.2265G>A | |
9 | g.14842550C>A | CA372960484 | FREM1 | c.1504G>T (p.Gly502Cys) n.2290G>T c.1531G>T (p.Gly511Cys) c.1123G>T (p.Gly375Cys) c.607G>T (p.Gly203Cys) n.2317G>T n.2320G>T n.2264G>T | |
9 | g.14842550C>G | CA372960485 | FREM1 | c.1504G>C (p.Gly502Arg) n.2290G>C c.1531G>C (p.Gly511Arg) c.1123G>C (p.Gly375Arg) c.607G>C (p.Gly203Arg) n.2317G>C n.2320G>C n.2264G>C | |
9 | g.14842550C>T | CA372960486 | FREM1 | c.1504G>A (p.Gly502Ser) n.2290G>A c.1531G>A (p.Gly511Ser) c.1123G>A (p.Gly375Ser) c.607G>A (p.Gly203Ser) n.2317G>A n.2320G>A n.2264G>A | |
9 | g.14842551A= | CA1835222428 | FREM1 | c.1503T= (p.Asp501=) n.2289T= c.1530T= (p.Asp510=) c.1122T= (p.Asp374=) c.606T= (p.Asp202=) n.2316T= n.2319T= n.2263T= | |
9 | g.14842551A>C | CA372960487 | FREM1 | c.1503T>G (p.Asp501Glu) n.2289T>G c.1530T>G (p.Asp510Glu) c.1122T>G (p.Asp374Glu) c.606T>G (p.Asp202Glu) n.2316T>G n.2319T>G n.2263T>G | |
9 | g.14842551A>G | CA4991216 | FREM1 | c.1503T>C (p.Asp501=) n.2289T>C c.1530T>C (p.Asp510=) c.1122T>C (p.Asp374=) c.606T>C (p.Asp202=) n.2316T>C n.2319T>C n.2263T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842551A>T | CA372960488 | FREM1 | c.1503T>A (p.Asp501Glu) n.2289T>A c.1530T>A (p.Asp510Glu) c.1122T>A (p.Asp374Glu) c.606T>A (p.Asp202Glu) n.2316T>A n.2319T>A n.2263T>A | |
9 | g.14842552T>A | CA372960489 | FREM1 | c.1502A>T (p.Asp501Val) n.2288A>T c.1529A>T (p.Asp510Val) c.1121A>T (p.Asp374Val) c.605A>T (p.Asp202Val) n.2315A>T n.2318A>T n.2262A>T | |
9 | g.14842552T>C | CA372960490 | FREM1 | c.1502A>G (p.Asp501Gly) n.2288A>G c.1529A>G (p.Asp510Gly) c.1121A>G (p.Asp374Gly) c.605A>G (p.Asp202Gly) n.2315A>G n.2318A>G n.2262A>G | gnomAD v4 |
9 | g.14842552T>G | CA372960491 | FREM1 | c.1502A>C (p.Asp501Ala) n.2288A>C c.1529A>C (p.Asp510Ala) c.1121A>C (p.Asp374Ala) c.605A>C (p.Asp202Ala) n.2315A>C n.2318A>C n.2262A>C | gnomAD v4 |
9 | g.14842553C>A | CA372960493 | FREM1 | c.1501G>T (p.Asp501Tyr) n.2287G>T c.1528G>T (p.Asp510Tyr) c.1120G>T (p.Asp374Tyr) c.604G>T (p.Asp202Tyr) n.2314G>T n.2317G>T n.2261G>T | |
9 | g.14842553C= | CA1835222429 | FREM1 | c.1501G= (p.Asp501=) n.2287G= c.1528G= (p.Asp510=) c.1120G= (p.Asp374=) c.604G= (p.Asp202=) n.2314G= n.2317G= n.2261G= | |
9 | g.14842553C>G | CA372960492 | FREM1 | c.1501G>C (p.Asp501His) n.2287G>C c.1528G>C (p.Asp510His) c.1120G>C (p.Asp374His) c.604G>C (p.Asp202His) n.2314G>C n.2317G>C n.2261G>C | |
9 | g.14842553C>T | CA4991217 | FREM1 | c.1501G>A (p.Asp501Asn) n.2287G>A c.1528G>A (p.Asp510Asn) c.1120G>A (p.Asp374Asn) c.604G>A (p.Asp202Asn) n.2314G>A n.2317G>A n.2261G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842554A>C | CA372960495 | FREM1 | c.1500T>G (p.Phe500Leu) n.2286T>G c.1527T>G (p.Phe509Leu) c.1119T>G (p.Phe373Leu) c.603T>G (p.Phe201Leu) n.2313T>G n.2316T>G n.2260T>G | |
9 | g.14842554A>G | CA464024638 | FREM1 | c.1500T>C (p.Phe500=) n.2286T>C c.1527T>C (p.Phe509=) c.1119T>C (p.Phe373=) c.603T>C (p.Phe201=) n.2313T>C n.2316T>C n.2260T>C | |
9 | g.14842554A>T | CA372960494 | FREM1 | c.1500T>A (p.Phe500Leu) n.2286T>A c.1527T>A (p.Phe509Leu) c.1119T>A (p.Phe373Leu) c.603T>A (p.Phe201Leu) n.2313T>A n.2316T>A n.2260T>A | |
9 | g.14842555A>C | CA372960496 | FREM1 | c.1499T>G (p.Phe500Cys) n.2285T>G c.1526T>G (p.Phe509Cys) c.1118T>G (p.Phe373Cys) c.602T>G (p.Phe201Cys) n.2312T>G n.2315T>G n.2259T>G | |
9 | g.14842555A>G | CA372960497 | FREM1 | c.1499T>C (p.Phe500Ser) n.2285T>C c.1526T>C (p.Phe509Ser) c.1118T>C (p.Phe373Ser) c.602T>C (p.Phe201Ser) n.2312T>C n.2315T>C n.2259T>C | |
9 | g.14842555A>T | CA372960498 | FREM1 | c.1499T>A (p.Phe500Tyr) n.2285T>A c.1526T>A (p.Phe509Tyr) c.1118T>A (p.Phe373Tyr) c.602T>A (p.Phe201Tyr) n.2312T>A n.2315T>A n.2259T>A | |
9 | g.14842556A>C | CA372960499 | FREM1 | c.1498T>G (p.Phe500Val) n.2284T>G c.1525T>G (p.Phe509Val) c.1117T>G (p.Phe373Val) c.601T>G (p.Phe201Val) n.2311T>G n.2314T>G n.2258T>G | |
9 | g.14842556A>G | CA372960500 | FREM1 | c.1498T>C (p.Phe500Leu) n.2284T>C c.1525T>C (p.Phe509Leu) c.1117T>C (p.Phe373Leu) c.601T>C (p.Phe201Leu) n.2311T>C n.2314T>C n.2258T>C | gnomAD v4 |
9 | g.14842556A>T | CA372960501 | FREM1 | c.1498T>A (p.Phe500Ile) n.2284T>A c.1525T>A (p.Phe509Ile) c.1117T>A (p.Phe373Ile) c.601T>A (p.Phe201Ile) n.2311T>A n.2314T>A n.2258T>A | |
9 | g.14842557T>A | CA464024639 | FREM1 | c.1497A>T (p.Ile499=) n.2283A>T c.1524A>T (p.Ile508=) c.1116A>T (p.Ile372=) c.600A>T (p.Ile200=) n.2310A>T n.2313A>T n.2257A>T | |
9 | g.14842557T>C | CA372960502 | FREM1 | c.1497A>G (p.Ile499Met) n.2283A>G c.1524A>G (p.Ile508Met) c.1116A>G (p.Ile372Met) c.600A>G (p.Ile200Met) n.2310A>G n.2313A>G n.2257A>G | gnomAD v4 |
9 | g.14842557T>G | CA464024640 | FREM1 | c.1497A>C (p.Ile499=) n.2283A>C c.1524A>C (p.Ile508=) c.1116A>C (p.Ile372=) c.600A>C (p.Ile200=) n.2310A>C n.2313A>C n.2257A>C | |
9 | g.14842558A>C | CA372960503 | FREM1 | c.1496T>G (p.Ile499Arg) n.2282T>G c.1523T>G (p.Ile508Arg) c.1115T>G (p.Ile372Arg) c.599T>G (p.Ile200Arg) n.2309T>G n.2312T>G n.2256T>G | |
9 | g.14842558A>G | CA372960504 | FREM1 | c.1496T>C (p.Ile499Thr) n.2282T>C c.1523T>C (p.Ile508Thr) c.1115T>C (p.Ile372Thr) c.599T>C (p.Ile200Thr) n.2309T>C n.2312T>C n.2256T>C | |
9 | g.14842558A>T | CA372960505 | FREM1 | c.1496T>A (p.Ile499Lys) n.2282T>A c.1523T>A (p.Ile508Lys) c.1115T>A (p.Ile372Lys) c.599T>A (p.Ile200Lys) n.2309T>A n.2312T>A n.2256T>A | |
9 | g.14842559T>A | CA372960506 | FREM1 | c.1495A>T (p.Ile499Leu) n.2281A>T c.1522A>T (p.Ile508Leu) c.1114A>T (p.Ile372Leu) c.598A>T (p.Ile200Leu) n.2308A>T n.2311A>T n.2255A>T | gnomAD v4 |
9 | g.14842559T>C | CA4991218 | FREM1 | c.1495A>G (p.Ile499Val) n.2281A>G c.1522A>G (p.Ile508Val) c.1114A>G (p.Ile372Val) c.598A>G (p.Ile200Val) n.2308A>G n.2311A>G n.2255A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842559T>G | CA372960507 | FREM1 | c.1495A>C (p.Ile499Leu) n.2281A>C c.1522A>C (p.Ile508Leu) c.1114A>C (p.Ile372Leu) c.598A>C (p.Ile200Leu) n.2308A>C n.2311A>C n.2255A>C | |
9 | g.14842559T= | CA1630847804 | FREM1 | c.1495A= (p.Ile499=) n.2281A= c.1522A= (p.Ile508=) c.1114A= (p.Ile372=) c.598A= (p.Ile200=) n.2308A= n.2311A= n.2255A= | |
9 | g.14842560C>A | CA464024641 | FREM1 | c.1494G>T (p.Arg498=) n.2280G>T c.1521G>T (p.Arg507=) c.1113G>T (p.Arg371=) c.597G>T (p.Arg199=) n.2307G>T n.2310G>T n.2254G>T | |
9 | g.14842560C= | CA1835222430 | FREM1 | c.1494G= (p.Arg498=) n.2280G= c.1521G= (p.Arg507=) c.1113G= (p.Arg371=) c.597G= (p.Arg199=) n.2307G= n.2310G= n.2254G= | |
9 | g.14842560C>G | CA464024642 | FREM1 | c.1494G>C (p.Arg498=) n.2280G>C c.1521G>C (p.Arg507=) c.1113G>C (p.Arg371=) c.597G>C (p.Arg199=) n.2307G>C n.2310G>C n.2254G>C | |
9 | g.14842560C>T | CA464024643 | FREM1 | c.1494G>A (p.Arg498=) n.2280G>A c.1521G>A (p.Arg507=) c.1113G>A (p.Arg371=) c.597G>A (p.Arg199=) n.2307G>A n.2310G>A n.2254G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.14842561C>A | CA372960508 | FREM1 | c.1493G>T (p.Arg498Leu) n.2279G>T c.1520G>T (p.Arg507Leu) c.1112G>T (p.Arg371Leu) c.596G>T (p.Arg199Leu) n.2306G>T n.2309G>T n.2253G>T | |
9 | g.14842561C= | CA1835222431 | FREM1 | c.1493G= (p.Arg498=) n.2279G= c.1520G= (p.Arg507=) c.1112G= (p.Arg371=) c.596G= (p.Arg199=) n.2306G= n.2309G= n.2253G= | |
9 | g.14842561C>G | CA4991219 | FREM1 | c.1493G>C (p.Arg498Pro) n.2279G>C c.1520G>C (p.Arg507Pro) c.1112G>C (p.Arg371Pro) c.596G>C (p.Arg199Pro) n.2306G>C n.2309G>C n.2253G>C | dbSNP ExAC gnomAD v2 |
9 | g.14842561C>T | CA129451 | FREM1 | c.1493G>A (p.Arg498Gln) n.2279G>A c.1520G>A (p.Arg507Gln) c.1112G>A (p.Arg371Gln) c.596G>A (p.Arg199Gln) n.2306G>A n.2309G>A n.2253G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842562G>A | CA4991220 | FREM1 | c.1492C>T (p.Arg498Trp) n.2278C>T c.1519C>T (p.Arg507Trp) c.1111C>T (p.Arg371Trp) c.595C>T (p.Arg199Trp) n.2305C>T n.2308C>T n.2252C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842562G>C | CA4991221 | FREM1 | c.1492C>G (p.Arg498Gly) n.2278C>G c.1519C>G (p.Arg507Gly) c.1111C>G (p.Arg371Gly) c.595C>G (p.Arg199Gly) n.2305C>G n.2308C>G n.2252C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842562G= | CA1835222432 | FREM1 | c.1492C= (p.Arg498=) n.2278C= c.1519C= (p.Arg507=) c.1111C= (p.Arg371=) c.595C= (p.Arg199=) n.2305C= n.2308C= n.2252C= | |
9 | g.14842562G>T | CA464024644 | FREM1 | c.1492C>A (p.Arg498=) n.2278C>A c.1519C>A (p.Arg507=) c.1111C>A (p.Arg371=) c.595C>A (p.Arg199=) n.2305C>A n.2308C>A n.2252C>A | dbSNP |
9 | g.14842563G>A | CA4991222 | FREM1 | c.1491C>T (p.Phe497=) n.2277C>T c.1518C>T (p.Phe506=) c.1110C>T (p.Phe370=) c.594C>T (p.Phe198=) n.2304C>T n.2307C>T n.2251C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.14842563G>C | CA372960509 | FREM1 | c.1491C>G (p.Phe497Leu) n.2277C>G c.1518C>G (p.Phe506Leu) c.1110C>G (p.Phe370Leu) c.594C>G (p.Phe198Leu) n.2304C>G n.2307C>G n.2251C>G | |
9 | g.14842563G= | CA1835222433 | FREM1 | c.1491C= (p.Phe497=) n.2277C= c.1518C= (p.Phe506=) c.1110C= (p.Phe370=) c.594C= (p.Phe198=) n.2304C= n.2307C= n.2251C= | |
9 | g.14842563G>T | CA372960510 | FREM1 | c.1491C>A (p.Phe497Leu) n.2277C>A c.1518C>A (p.Phe506Leu) c.1110C>A (p.Phe370Leu) c.594C>A (p.Phe198Leu) n.2304C>A n.2307C>A n.2251C>A | |
9 | g.14842564A>C | CA372960511 | FREM1 | c.1490T>G (p.Phe497Cys) n.2276T>G c.1517T>G (p.Phe506Cys) c.1109T>G (p.Phe370Cys) c.593T>G (p.Phe198Cys) n.2303T>G n.2306T>G n.2250T>G | |
9 | g.14842564A>G | CA372960512 | FREM1 | c.1490T>C (p.Phe497Ser) n.2276T>C c.1517T>C (p.Phe506Ser) c.1109T>C (p.Phe370Ser) c.593T>C (p.Phe198Ser) n.2303T>C n.2306T>C n.2250T>C | |
9 | g.14842564A>T | CA372960513 | FREM1 | c.1490T>A (p.Phe497Tyr) n.2276T>A c.1517T>A (p.Phe506Tyr) c.1109T>A (p.Phe370Tyr) c.593T>A (p.Phe198Tyr) n.2303T>A n.2306T>A n.2250T>A | |
9 | g.14842565A>C | CA372960514 | FREM1 | c.1489T>G (p.Phe497Val) n.2275T>G c.1516T>G (p.Phe506Val) c.1108T>G (p.Phe370Val) c.592T>G (p.Phe198Val) n.2302T>G n.2305T>G n.2249T>G | |
9 | g.14842565A>G | CA372960515 | FREM1 | c.1489T>C (p.Phe497Leu) n.2275T>C c.1516T>C (p.Phe506Leu) c.1108T>C (p.Phe370Leu) c.592T>C (p.Phe198Leu) n.2302T>C n.2305T>C n.2249T>C | |
9 | g.14842565A>T | CA372960516 | FREM1 | c.1489T>A (p.Phe497Ile) n.2275T>A c.1516T>A (p.Phe506Ile) c.1108T>A (p.Phe370Ile) c.592T>A (p.Phe198Ile) n.2302T>A n.2305T>A n.2249T>A | |
9 | g.14842566G>A | CA464024645 | FREM1 | c.1488C>T (p.Val496=) n.2274C>T c.1515C>T (p.Val505=) c.1107C>T (p.Val369=) c.591C>T (p.Val197=) n.2301C>T n.2304C>T n.2248C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.14842566G>C | CA464024647 | FREM1 | c.1488C>G (p.Val496=) n.2274C>G c.1515C>G (p.Val505=) c.1107C>G (p.Val369=) c.591C>G (p.Val197=) n.2301C>G n.2304C>G n.2248C>G | |
9 | g.14842566G= | CA1835222434 | FREM1 | c.1488C= (p.Val496=) n.2274C= c.1515C= (p.Val505=) c.1107C= (p.Val369=) c.591C= (p.Val197=) n.2301C= n.2304C= n.2248C= | |
9 | g.14842566G>T | CA464024646 | FREM1 | c.1488C>A (p.Val496=) n.2274C>A c.1515C>A (p.Val505=) c.1107C>A (p.Val369=) c.591C>A (p.Val197=) n.2301C>A n.2304C>A n.2248C>A | dbSNP |
9 | g.14842567A= | CA1835222435 | FREM1 | c.1487T= (p.Val496=) n.2273T= c.1514T= (p.Val505=) c.1106T= (p.Val369=) c.590T= (p.Val197=) n.2300T= n.2303T= n.2247T= | |
9 | g.14842567A>C | CA372960518 | FREM1 | c.1487T>G (p.Val496Gly) n.2273T>G c.1514T>G (p.Val505Gly) c.1106T>G (p.Val369Gly) c.590T>G (p.Val197Gly) n.2300T>G n.2303T>G n.2247T>G | gnomAD v4 |
9 | g.14842567A>G | CA4991223 | FREM1 | c.1487T>C (p.Val496Ala) n.2273T>C c.1514T>C (p.Val505Ala) c.1106T>C (p.Val369Ala) c.590T>C (p.Val197Ala) n.2300T>C n.2303T>C n.2247T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842567A>T | CA372960517 | FREM1 | c.1487T>A (p.Val496Asp) n.2273T>A c.1514T>A (p.Val505Asp) c.1106T>A (p.Val369Asp) c.590T>A (p.Val197Asp) n.2300T>A n.2303T>A n.2247T>A | |
9 | g.14842568C>A | CA372960519 | FREM1 | c.1486G>T (p.Val496Phe) n.2272G>T c.1513G>T (p.Val505Phe) c.1105G>T (p.Val369Phe) c.589G>T (p.Val197Phe) n.2299G>T n.2302G>T n.2246G>T | |
9 | g.14842568C>G | CA372960521 | FREM1 | c.1486G>C (p.Val496Leu) n.2272G>C c.1513G>C (p.Val505Leu) c.1105G>C (p.Val369Leu) c.589G>C (p.Val197Leu) n.2299G>C n.2302G>C n.2246G>C | |
9 | g.14842568C>T | CA372960520 | FREM1 | c.1486G>A (p.Val496Ile) n.2272G>A c.1513G>A (p.Val505Ile) c.1105G>A (p.Val369Ile) c.589G>A (p.Val197Ile) n.2299G>A n.2302G>A n.2246G>A | |
9 | g.14842569C>A | CA464024648 | FREM1 | c.1485G>T (p.Val495=) n.2271G>T c.1512G>T (p.Val504=) c.1104G>T (p.Val368=) c.588G>T (p.Val196=) n.2298G>T n.2301G>T n.2245G>T | |
9 | g.14842569C>G | CA464024649 | FREM1 | c.1485G>C (p.Val495=) n.2271G>C c.1512G>C (p.Val504=) c.1104G>C (p.Val368=) c.588G>C (p.Val196=) n.2298G>C n.2301G>C n.2245G>C | |
9 | g.14842569C>T | CA464024650 | FREM1 | c.1485G>A (p.Val495=) n.2271G>A c.1512G>A (p.Val504=) c.1104G>A (p.Val368=) c.588G>A (p.Val196=) n.2298G>A n.2301G>A n.2245G>A | |
9 | g.14842570A>C | CA372960522 | FREM1 | c.1484T>G (p.Val495Gly) n.2270T>G c.1511T>G (p.Val504Gly) c.1103T>G (p.Val368Gly) c.587T>G (p.Val196Gly) n.2297T>G n.2300T>G n.2244T>G | |
9 | g.14842570A>G | CA372960523 | FREM1 | c.1484T>C (p.Val495Ala) n.2270T>C c.1511T>C (p.Val504Ala) c.1103T>C (p.Val368Ala) c.587T>C (p.Val196Ala) n.2297T>C n.2300T>C n.2244T>C | |
9 | g.14842570A>T | CA372960524 | FREM1 | c.1484T>A (p.Val495Glu) n.2270T>A c.1511T>A (p.Val504Glu) c.1103T>A (p.Val368Glu) c.587T>A (p.Val196Glu) n.2297T>A n.2300T>A n.2244T>A | |
9 | g.14842571C>A | CA372960525 | FREM1 | c.1483G>T (p.Val495Leu) n.2269G>T c.1510G>T (p.Val504Leu) c.1102G>T (p.Val368Leu) c.586G>T (p.Val196Leu) n.2296G>T n.2299G>T n.2243G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.14842571C= | CA1835222436 | FREM1 | c.1483G= (p.Val495=) n.2269G= c.1510G= (p.Val504=) c.1102G= (p.Val368=) c.586G= (p.Val196=) n.2296G= n.2299G= n.2243G= | |
9 | g.14842571C>G | CA372960526 | FREM1 | c.1483G>C (p.Val495Leu) n.2269G>C c.1510G>C (p.Val504Leu) c.1102G>C (p.Val368Leu) c.586G>C (p.Val196Leu) n.2296G>C n.2299G>C n.2243G>C | COSMIC |
9 | g.14842571C>T | CA4991224 | FREM1 | c.1483G>A (p.Val495Met) n.2269G>A c.1510G>A (p.Val504Met) c.1102G>A (p.Val368Met) c.586G>A (p.Val196Met) n.2296G>A n.2299G>A n.2243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842572G>A | CA4991225 | FREM1 | c.1482C>T (p.Phe494=) n.2268C>T c.1509C>T (p.Phe503=) c.1101C>T (p.Phe367=) c.585C>T (p.Phe195=) n.2295C>T n.2298C>T n.2242C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.14842572G>C | CA372960527 | FREM1 | c.1482C>G (p.Phe494Leu) n.2268C>G c.1509C>G (p.Phe503Leu) c.1101C>G (p.Phe367Leu) c.585C>G (p.Phe195Leu) n.2295C>G n.2298C>G n.2242C>G | |
9 | g.14842572G= | CA1835222437 | FREM1 | c.1482C= (p.Phe494=) n.2268C= c.1509C= (p.Phe503=) c.1101C= (p.Phe367=) c.585C= (p.Phe195=) n.2295C= n.2298C= n.2242C= | |
9 | g.14842572G>T | CA372960528 | FREM1 | c.1482C>A (p.Phe494Leu) n.2268C>A c.1509C>A (p.Phe503Leu) c.1101C>A (p.Phe367Leu) c.585C>A (p.Phe195Leu) n.2295C>A n.2298C>A n.2242C>A | |
9 | g.14842573A>C | CA372960529 | FREM1 | c.1481T>G (p.Phe494Cys) n.2267T>G c.1508T>G (p.Phe503Cys) c.1100T>G (p.Phe367Cys) c.584T>G (p.Phe195Cys) n.2294T>G n.2297T>G n.2241T>G | |
9 | g.14842573A>G | CA372960530 | FREM1 | c.1481T>C (p.Phe494Ser) n.2267T>C c.1508T>C (p.Phe503Ser) c.1100T>C (p.Phe367Ser) c.584T>C (p.Phe195Ser) n.2294T>C n.2297T>C n.2241T>C | |
9 | g.14842573A>T | CA372960531 | FREM1 | c.1481T>A (p.Phe494Tyr) n.2267T>A c.1508T>A (p.Phe503Tyr) c.1100T>A (p.Phe367Tyr) c.584T>A (p.Phe195Tyr) n.2294T>A n.2297T>A n.2241T>A |