Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.45185253_45185254insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAACCA2580088128FANCMc.2764_2765insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu921_Leu922insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.330_331insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.4345_4346insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1448_Leu1449insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.*3363_*3364insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (n.*3363_*3364insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC)
n.288_289insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
n.442_443insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.*2577_*2578insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (n.*2577_*2578insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC)
c.4396_4397insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1465_Leu1466insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
n.4500_4501insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.2550_2551insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.3483_3484insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.3384_3385insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.*308_*309insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (n.*308_*309insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC)
c.3369_3370insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
n.1289_1290insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.4474_4475insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1491_Leu1492insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.1349_1350insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
n.385_386insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
c.3100_3101insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1033_Leu1034insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.4567_4568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1522_Leu1523insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.4489_4490insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1496_Leu1497insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.2581_2582insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu860_Leu861insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.3604_3605insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1201_Leu1202insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.3382_3383insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1127_Leu1128insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
c.3367_3368insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1122_Leu1123insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
n.4659_4660insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
n.4644_4645insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
n.4696_4697insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC
 ClinVar
14g.45185248_45185250delCA614273622FANCMc.2759_2761del (p.Ala920del)
c.325_327del
c.4340_4342del (p.Ala1447del)
c.*3358_*3360del (n.*3358_*3360del)
n.283_285del
n.437_439del
c.4547_4549del (p.Ala1516del)
c.*2572_*2574del (n.*2572_*2574del)
c.4391_4393del (p.Ala1464del)
n.4495_4497del
c.2545_2547del
c.3478_3480del
c.3379_3381del
c.*303_*305del (n.*303_*305del)
c.3364_3366del
n.1284_1286del
c.4469_4471del (p.Ala1490del)
c.1344_1346del
n.380_382del
c.3095_3097del (p.Ala1032del)
c.4562_4564del (p.Ala1521del)
c.4484_4486del (p.Ala1495del)
c.2576_2578del (p.Ala859del)
c.3599_3601del (p.Ala1200del)
c.3377_3379del (p.Ala1126del)
c.3362_3364del (p.Ala1121del)
n.4654_4656del
n.4639_4641del
n.4691_4693del
 dbSNP gnomAD v2
14g.45185249A=CA2133624472FANCMc.2760A= (p.Ala920=)
c.326A=
c.4341A= (p.Ala1447=)
c.*3359A= (n.*3359A=)
n.284A=
n.438A=
c.4548A= (p.Ala1516=)
c.*2573A= (n.*2573A=)
c.4392A= (p.Ala1464=)
n.4496A=
c.2546A=
c.3479A=
c.3380A=
c.*304A= (n.*304A=)
c.3365A=
n.1285A=
c.4470A= (p.Ala1490=)
c.1345A=
n.381A=
c.3096A= (p.Ala1032=)
c.4563A= (p.Ala1521=)
c.4485A= (p.Ala1495=)
c.2577A= (p.Ala859=)
c.3600A= (p.Ala1200=)
c.3378A= (p.Ala1126=)
c.3363A= (p.Ala1121=)
n.4655A=
n.4640A=
n.4692A=
14g.45185249A>CCA486141347FANCMc.2760A>C (p.Ala920=)
c.326A>C
c.4341A>C (p.Ala1447=)
c.*3359A>C (n.*3359A>C)
n.284A>C
n.438A>C
c.4548A>C (p.Ala1516=)
c.*2573A>C (n.*2573A>C)
c.4392A>C (p.Ala1464=)
n.4496A>C
c.2546A>C
c.3479A>C
c.3380A>C
c.*304A>C (n.*304A>C)
c.3365A>C
n.1285A>C
c.4470A>C (p.Ala1490=)
c.1345A>C
n.381A>C
c.3096A>C (p.Ala1032=)
c.4563A>C (p.Ala1521=)
c.4485A>C (p.Ala1495=)
c.2577A>C (p.Ala859=)
c.3600A>C (p.Ala1200=)
c.3378A>C (p.Ala1126=)
c.3363A>C (p.Ala1121=)
n.4655A>C
n.4640A>C
n.4692A>C
14g.45185249A>GCA259634541FANCMc.2760A>G (p.Ala920=)
c.326A>G
c.4341A>G (p.Ala1447=)
c.*3359A>G (n.*3359A>G)
n.284A>G
n.438A>G
c.4548A>G (p.Ala1516=)
c.*2573A>G (n.*2573A>G)
c.4392A>G (p.Ala1464=)
n.4496A>G
c.2546A>G
c.3479A>G
c.3380A>G
c.*304A>G (n.*304A>G)
c.3365A>G
n.1285A>G
c.4470A>G (p.Ala1490=)
c.1345A>G
n.381A>G
c.3096A>G (p.Ala1032=)
c.4563A>G (p.Ala1521=)
c.4485A>G (p.Ala1495=)
c.2577A>G (p.Ala859=)
c.3600A>G (p.Ala1200=)
c.3378A>G (p.Ala1126=)
c.3363A>G (p.Ala1121=)
n.4655A>G
n.4640A>G
n.4692A>G
 ClinVar dbSNP
14g.45185249A>TCA486141348FANCMc.2760A>T (p.Ala920=)
c.326A>T
c.4341A>T (p.Ala1447=)
c.*3359A>T (n.*3359A>T)
n.284A>T
n.438A>T
c.4548A>T (p.Ala1516=)
c.*2573A>T (n.*2573A>T)
c.4392A>T (p.Ala1464=)
n.4496A>T
c.2546A>T
c.3479A>T
c.3380A>T
c.*304A>T (n.*304A>T)
c.3365A>T
n.1285A>T
c.4470A>T (p.Ala1490=)
c.1345A>T
n.381A>T
c.3096A>T (p.Ala1032=)
c.4563A>T (p.Ala1521=)
c.4485A>T (p.Ala1495=)
c.2577A>T (p.Ala859=)
c.3600A>T (p.Ala1200=)
c.3378A>T (p.Ala1126=)
c.3363A>T (p.Ala1121=)
n.4655A>T
n.4640A>T
n.4692A>T
14g.45185250G>ACA389608139FANCMc.2761G>A (p.Glu921Lys)
c.327G>A
c.4342G>A (p.Glu1448Lys)
c.*3360G>A (n.*3360G>A)
n.285G>A
n.439G>A
c.4549G>A (p.Glu1517Lys)
c.*2574G>A (n.*2574G>A)
c.4393G>A (p.Glu1465Lys)
n.4497G>A
c.2547G>A
c.3480G>A
c.3381G>A
c.*305G>A (n.*305G>A)
c.3366G>A
n.1286G>A
c.4471G>A (p.Glu1491Lys)
c.1346G>A
n.382G>A
c.3097G>A (p.Glu1033Lys)
c.4564G>A (p.Glu1522Lys)
c.4486G>A (p.Glu1496Lys)
c.2578G>A (p.Glu860Lys)
c.3601G>A (p.Glu1201Lys)
c.3379G>A (p.Glu1127Lys)
c.3364G>A (p.Glu1122Lys)
n.4656G>A
n.4641G>A
n.4693G>A
 dbSNP
14g.45185250G>CCA389608140FANCMc.2761G>C (p.Glu921Gln)
c.327G>C
c.4342G>C (p.Glu1448Gln)
c.*3360G>C (n.*3360G>C)
n.285G>C
n.439G>C
c.4549G>C (p.Glu1517Gln)
c.*2574G>C (n.*2574G>C)
c.4393G>C (p.Glu1465Gln)
n.4497G>C
c.2547G>C
c.3480G>C
c.3381G>C
c.*305G>C (n.*305G>C)
c.3366G>C
n.1286G>C
c.4471G>C (p.Glu1491Gln)
c.1346G>C
n.382G>C
c.3097G>C (p.Glu1033Gln)
c.4564G>C (p.Glu1522Gln)
c.4486G>C (p.Glu1496Gln)
c.2578G>C (p.Glu860Gln)
c.3601G>C (p.Glu1201Gln)
c.3379G>C (p.Glu1127Gln)
c.3364G>C (p.Glu1122Gln)
n.4656G>C
n.4641G>C
n.4693G>C
14g.45185250G=CA2133624474FANCMc.2761G= (p.Glu921=)
c.327G=
c.4342G= (p.Glu1448=)
c.*3360G= (n.*3360G=)
n.285G=
n.439G=
c.4549G= (p.Glu1517=)
c.*2574G= (n.*2574G=)
c.4393G= (p.Glu1465=)
n.4497G=
c.2547G=
c.3480G=
c.3381G=
c.*305G= (n.*305G=)
c.3366G=
n.1286G=
c.4471G= (p.Glu1491=)
c.1346G=
n.382G=
c.3097G= (p.Glu1033=)
c.4564G= (p.Glu1522=)
c.4486G= (p.Glu1496=)
c.2578G= (p.Glu860=)
c.3601G= (p.Glu1201=)
c.3379G= (p.Glu1127=)
c.3364G= (p.Glu1122=)
n.4656G=
n.4641G=
n.4693G=
14g.45185250G>TCA389608141FANCMc.2761G>T (p.Glu921Ter)
c.327G>T
c.4342G>T (p.Glu1448Ter)
c.*3360G>T (n.*3360G>T)
n.285G>T
n.439G>T
c.4549G>T (p.Glu1517Ter)
c.*2574G>T (n.*2574G>T)
c.4393G>T (p.Glu1465Ter)
n.4497G>T
c.2547G>T
c.3480G>T
c.3381G>T
c.*305G>T (n.*305G>T)
c.3366G>T
n.1286G>T
c.4471G>T (p.Glu1491Ter)
c.1346G>T
n.382G>T
c.3097G>T (p.Glu1033Ter)
c.4564G>T (p.Glu1522Ter)
c.4486G>T (p.Glu1496Ter)
c.2578G>T (p.Glu860Ter)
c.3601G>T (p.Glu1201Ter)
c.3379G>T (p.Glu1127Ter)
c.3364G>T (p.Glu1122Ter)
n.4656G>T
n.4641G>T
n.4693G>T
14g.45185251A>CCA389608144FANCMc.2762A>C (p.Glu921Ala)
c.328A>C
c.4343A>C (p.Glu1448Ala)
c.*3361A>C (n.*3361A>C)
n.286A>C
n.440A>C
c.4550A>C (p.Glu1517Ala)
c.*2575A>C (n.*2575A>C)
c.4394A>C (p.Glu1465Ala)
n.4498A>C
c.2548A>C
c.3481A>C
c.3382A>C
c.*306A>C (n.*306A>C)
c.3367A>C
n.1287A>C
c.4472A>C (p.Glu1491Ala)
c.1347A>C
n.383A>C
c.3098A>C (p.Glu1033Ala)
c.4565A>C (p.Glu1522Ala)
c.4487A>C (p.Glu1496Ala)
c.2579A>C (p.Glu860Ala)
c.3602A>C (p.Glu1201Ala)
c.3380A>C (p.Glu1127Ala)
c.3365A>C (p.Glu1122Ala)
n.4657A>C
n.4642A>C
n.4694A>C
14g.45185251A>GCA389608143FANCMc.2762A>G (p.Glu921Gly)
c.328A>G
c.4343A>G (p.Glu1448Gly)
c.*3361A>G (n.*3361A>G)
n.286A>G
n.440A>G
c.4550A>G (p.Glu1517Gly)
c.*2575A>G (n.*2575A>G)
c.4394A>G (p.Glu1465Gly)
n.4498A>G
c.2548A>G
c.3481A>G
c.3382A>G
c.*306A>G (n.*306A>G)
c.3367A>G
n.1287A>G
c.4472A>G (p.Glu1491Gly)
c.1347A>G
n.383A>G
c.3098A>G (p.Glu1033Gly)
c.4565A>G (p.Glu1522Gly)
c.4487A>G (p.Glu1496Gly)
c.2579A>G (p.Glu860Gly)
c.3602A>G (p.Glu1201Gly)
c.3380A>G (p.Glu1127Gly)
c.3365A>G (p.Glu1122Gly)
n.4657A>G
n.4642A>G
n.4694A>G
14g.45185251A>TCA389608142FANCMc.2762A>T (p.Glu921Val)
c.328A>T
c.4343A>T (p.Glu1448Val)
c.*3361A>T (n.*3361A>T)
n.286A>T
n.440A>T
c.4550A>T (p.Glu1517Val)
c.*2575A>T (n.*2575A>T)
c.4394A>T (p.Glu1465Val)
n.4498A>T
c.2548A>T
c.3481A>T
c.3382A>T
c.*306A>T (n.*306A>T)
c.3367A>T
n.1287A>T
c.4472A>T (p.Glu1491Val)
c.1347A>T
n.383A>T
c.3098A>T (p.Glu1033Val)
c.4565A>T (p.Glu1522Val)
c.4487A>T (p.Glu1496Val)
c.2579A>T (p.Glu860Val)
c.3602A>T (p.Glu1201Val)
c.3380A>T (p.Glu1127Val)
c.3365A>T (p.Glu1122Val)
n.4657A>T
n.4642A>T
n.4694A>T
14g.45185252A>CCA389608146FANCMc.2763A>C (p.Glu921Asp)
c.329A>C
c.4344A>C (p.Glu1448Asp)
c.*3362A>C (n.*3362A>C)
n.287A>C
n.441A>C
c.4551A>C (p.Glu1517Asp)
c.*2576A>C (n.*2576A>C)
c.4395A>C (p.Glu1465Asp)
n.4499A>C
c.2549A>C
c.3482A>C
c.3383A>C
c.*307A>C (n.*307A>C)
c.3368A>C
n.1288A>C
c.4473A>C (p.Glu1491Asp)
c.1348A>C
n.384A>C
c.3099A>C (p.Glu1033Asp)
c.4566A>C (p.Glu1522Asp)
c.4488A>C (p.Glu1496Asp)
c.2580A>C (p.Glu860Asp)
c.3603A>C (p.Glu1201Asp)
c.3381A>C (p.Glu1127Asp)
c.3366A>C (p.Glu1122Asp)
n.4658A>C
n.4643A>C
n.4695A>C
14g.45185252A>GCA486141349FANCMc.2763A>G (p.Glu921=)
c.329A>G
c.4344A>G (p.Glu1448=)
c.*3362A>G (n.*3362A>G)
n.287A>G
n.441A>G
c.4551A>G (p.Glu1517=)
c.*2576A>G (n.*2576A>G)
c.4395A>G (p.Glu1465=)
n.4499A>G
c.2549A>G
c.3482A>G
c.3383A>G
c.*307A>G (n.*307A>G)
c.3368A>G
n.1288A>G
c.4473A>G (p.Glu1491=)
c.1348A>G
n.384A>G
c.3099A>G (p.Glu1033=)
c.4566A>G (p.Glu1522=)
c.4488A>G (p.Glu1496=)
c.2580A>G (p.Glu860=)
c.3603A>G (p.Glu1201=)
c.3381A>G (p.Glu1127=)
c.3366A>G (p.Glu1122=)
n.4658A>G
n.4643A>G
n.4695A>G
14g.45185252A>TCA389608145FANCMc.2763A>T (p.Glu921Asp)
c.329A>T
c.4344A>T (p.Glu1448Asp)
c.*3362A>T (n.*3362A>T)
n.287A>T
n.441A>T
c.4551A>T (p.Glu1517Asp)
c.*2576A>T (n.*2576A>T)
c.4395A>T (p.Glu1465Asp)
n.4499A>T
c.2549A>T
c.3482A>T
c.3383A>T
c.*307A>T (n.*307A>T)
c.3368A>T
n.1288A>T
c.4473A>T (p.Glu1491Asp)
c.1348A>T
n.384A>T
c.3099A>T (p.Glu1033Asp)
c.4566A>T (p.Glu1522Asp)
c.4488A>T (p.Glu1496Asp)
c.2580A>T (p.Glu860Asp)
c.3603A>T (p.Glu1201Asp)
c.3381A>T (p.Glu1127Asp)
c.3366A>T (p.Glu1122Asp)
n.4658A>T
n.4643A>T
n.4695A>T
14g.45185253_45185254insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCA962632334FANCMc.2764_2765insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu922ArgfsTer15)
c.330_331insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.4345_4346insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1449ArgfsTer15)
c.*3363_*3364insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (n.*3363_*3364insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC)
n.288_289insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
n.442_443insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1518ArgfsTer15)
c.*2577_*2578insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (n.*2577_*2578insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC)
c.4396_4397insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1466ArgfsTer15)
n.4500_4501insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.2550_2551insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.3483_3484insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.3384_3385insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.*308_*309insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (n.*308_*309insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC)
c.3369_3370insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
n.1289_1290insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.4474_4475insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1492ArgfsTer15)
c.1349_1350insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
n.385_386insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
c.3100_3101insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1034ArgfsTer15)
c.4567_4568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1523ArgfsTer15)
c.4489_4490insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1497ArgfsTer15)
c.2581_2582insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu861ArgfsTer15)
c.3604_3605insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1202ArgfsTer15)
c.3382_3383insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1128ArgfsTer15)
c.3367_3368insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC (p.Leu1123ArgfsTer15)
n.4659_4660insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
n.4644_4645insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
n.4696_4697insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC
 gnomAD v3 gnomAD v4
14g.45185253C>ACA389608148FANCMc.2764C>A (p.Leu922Ile)
c.330C>A
c.4345C>A (p.Leu1449Ile)
c.*3363C>A (n.*3363C>A)
n.288C>A
n.442C>A
c.4552C>A (p.Leu1518Ile)
c.*2577C>A (n.*2577C>A)
c.4396C>A (p.Leu1466Ile)
n.4500C>A
c.2550C>A
c.3483C>A
c.3384C>A
c.*308C>A (n.*308C>A)
c.3369C>A
n.1289C>A
c.4474C>A (p.Leu1492Ile)
c.1349C>A
n.385C>A
c.3100C>A (p.Leu1034Ile)
c.4567C>A (p.Leu1523Ile)
c.4489C>A (p.Leu1497Ile)
c.2581C>A (p.Leu861Ile)
c.3604C>A (p.Leu1202Ile)
c.3382C>A (p.Leu1128Ile)
c.3367C>A (p.Leu1123Ile)
n.4659C>A
n.4644C>A
n.4696C>A
 dbSNP gnomAD v2 gnomAD v4
14g.45185253C=CA2133624476FANCMc.2764C= (p.Leu922=)
c.330C=
c.4345C= (p.Leu1449=)
c.*3363C= (n.*3363C=)
n.288C=
n.442C=
c.4552C= (p.Leu1518=)
c.*2577C= (n.*2577C=)
c.4396C= (p.Leu1466=)
n.4500C=
c.2550C=
c.3483C=
c.3384C=
c.*308C= (n.*308C=)
c.3369C=
n.1289C=
c.4474C= (p.Leu1492=)
c.1349C=
n.385C=
c.3100C= (p.Leu1034=)
c.4567C= (p.Leu1523=)
c.4489C= (p.Leu1497=)
c.2581C= (p.Leu861=)
c.3604C= (p.Leu1202=)
c.3382C= (p.Leu1128=)
c.3367C= (p.Leu1123=)
n.4659C=
n.4644C=
n.4696C=
14g.45185253C>GCA389608147FANCMc.2764C>G (p.Leu922Val)
c.330C>G
c.4345C>G (p.Leu1449Val)
c.*3363C>G (n.*3363C>G)
n.288C>G
n.442C>G
c.4552C>G (p.Leu1518Val)
c.*2577C>G (n.*2577C>G)
c.4396C>G (p.Leu1466Val)
n.4500C>G
c.2550C>G
c.3483C>G
c.3384C>G
c.*308C>G (n.*308C>G)
c.3369C>G
n.1289C>G
c.4474C>G (p.Leu1492Val)
c.1349C>G
n.385C>G
c.3100C>G (p.Leu1034Val)
c.4567C>G (p.Leu1523Val)
c.4489C>G (p.Leu1497Val)
c.2581C>G (p.Leu861Val)
c.3604C>G (p.Leu1202Val)
c.3382C>G (p.Leu1128Val)
c.3367C>G (p.Leu1123Val)
n.4659C>G
n.4644C>G
n.4696C>G
 ClinVar
14g.45185253C>TCA389608149FANCMc.2764C>T (p.Leu922Phe)
c.330C>T
c.4345C>T (p.Leu1449Phe)
c.*3363C>T (n.*3363C>T)
n.288C>T
n.442C>T
c.4552C>T (p.Leu1518Phe)
c.*2577C>T (n.*2577C>T)
c.4396C>T (p.Leu1466Phe)
n.4500C>T
c.2550C>T
c.3483C>T
c.3384C>T
c.*308C>T (n.*308C>T)
c.3369C>T
n.1289C>T
c.4474C>T (p.Leu1492Phe)
c.1349C>T
n.385C>T
c.3100C>T (p.Leu1034Phe)
c.4567C>T (p.Leu1523Phe)
c.4489C>T (p.Leu1497Phe)
c.2581C>T (p.Leu861Phe)
c.3604C>T (p.Leu1202Phe)
c.3382C>T (p.Leu1128Phe)
c.3367C>T (p.Leu1123Phe)
n.4659C>T
n.4644C>T
n.4696C>T
 dbSNP
14g.45185254T>ACA389608150FANCMc.2765T>A (p.Leu922His)
c.331T>A
c.4346T>A (p.Leu1449His)
c.*3364T>A (n.*3364T>A)
n.289T>A
n.443T>A
c.4553T>A (p.Leu1518His)
c.*2578T>A (n.*2578T>A)
c.4397T>A (p.Leu1466His)
n.4501T>A
c.2551T>A
c.3484T>A
c.3385T>A
c.*309T>A (n.*309T>A)
c.3370T>A
n.1290T>A
c.4475T>A (p.Leu1492His)
c.1350T>A
n.386T>A
c.3101T>A (p.Leu1034His)
c.4568T>A (p.Leu1523His)
c.4490T>A (p.Leu1497His)
c.2582T>A (p.Leu861His)
c.3605T>A (p.Leu1202His)
c.3383T>A (p.Leu1128His)
c.3368T>A (p.Leu1123His)
n.4660T>A
n.4645T>A
n.4697T>A
14g.45185254T>CCA389608152FANCMc.2765T>C (p.Leu922Pro)
c.331T>C
c.4346T>C (p.Leu1449Pro)
c.*3364T>C (n.*3364T>C)
n.289T>C
n.443T>C
c.4553T>C (p.Leu1518Pro)
c.*2578T>C (n.*2578T>C)
c.4397T>C (p.Leu1466Pro)
n.4501T>C
c.2551T>C
c.3484T>C
c.3385T>C
c.*309T>C (n.*309T>C)
c.3370T>C
n.1290T>C
c.4475T>C (p.Leu1492Pro)
c.1350T>C
n.386T>C
c.3101T>C (p.Leu1034Pro)
c.4568T>C (p.Leu1523Pro)
c.4490T>C (p.Leu1497Pro)
c.2582T>C (p.Leu861Pro)
c.3605T>C (p.Leu1202Pro)
c.3383T>C (p.Leu1128Pro)
c.3368T>C (p.Leu1123Pro)
n.4660T>C
n.4645T>C
n.4697T>C
14g.45185254T>GCA389608151FANCMc.2765T>G (p.Leu922Arg)
c.331T>G
c.4346T>G (p.Leu1449Arg)
c.*3364T>G (n.*3364T>G)
n.289T>G
n.443T>G
c.4553T>G (p.Leu1518Arg)
c.*2578T>G (n.*2578T>G)
c.4397T>G (p.Leu1466Arg)
n.4501T>G
c.2551T>G
c.3484T>G
c.3385T>G
c.*309T>G (n.*309T>G)
c.3370T>G
n.1290T>G
c.4475T>G (p.Leu1492Arg)
c.1350T>G
n.386T>G
c.3101T>G (p.Leu1034Arg)
c.4568T>G (p.Leu1523Arg)
c.4490T>G (p.Leu1497Arg)
c.2582T>G (p.Leu861Arg)
c.3605T>G (p.Leu1202Arg)
c.3383T>G (p.Leu1128Arg)
c.3368T>G (p.Leu1123Arg)
n.4660T>G
n.4645T>G
n.4697T>G
14g.45185255T>ACA486141350FANCMc.2766T>A (p.Leu922=)
c.332T>A
c.4347T>A (p.Leu1449=)
c.*3365T>A (n.*3365T>A)
n.290T>A
n.444T>A
c.4554T>A (p.Leu1518=)
c.*2579T>A (n.*2579T>A)
c.4398T>A (p.Leu1466=)
n.4502T>A
c.2552T>A
c.3485T>A
c.3386T>A
c.*310T>A (n.*310T>A)
c.3371T>A
n.1291T>A
c.4476T>A (p.Leu1492=)
c.1351T>A
n.387T>A
c.3102T>A (p.Leu1034=)
c.4569T>A (p.Leu1523=)
c.4491T>A (p.Leu1497=)
c.2583T>A (p.Leu861=)
c.3606T>A (p.Leu1202=)
c.3384T>A (p.Leu1128=)
c.3369T>A (p.Leu1123=)
n.4661T>A
n.4646T>A
n.4698T>A
14g.45185255T>CCA486141351FANCMc.2766T>C (p.Leu922=)
c.332T>C
c.4347T>C (p.Leu1449=)
c.*3365T>C (n.*3365T>C)
n.290T>C
n.444T>C
c.4554T>C (p.Leu1518=)
c.*2579T>C (n.*2579T>C)
c.4398T>C (p.Leu1466=)
n.4502T>C
c.2552T>C
c.3485T>C
c.3386T>C
c.*310T>C (n.*310T>C)
c.3371T>C
n.1291T>C
c.4476T>C (p.Leu1492=)
c.1351T>C
n.387T>C
c.3102T>C (p.Leu1034=)
c.4569T>C (p.Leu1523=)
c.4491T>C (p.Leu1497=)
c.2583T>C (p.Leu861=)
c.3606T>C (p.Leu1202=)
c.3384T>C (p.Leu1128=)
c.3369T>C (p.Leu1123=)
n.4661T>C
n.4646T>C
n.4698T>C
14g.45185255T>GCA486141352FANCMc.2766T>G (p.Leu922=)
c.332T>G
c.4347T>G (p.Leu1449=)
c.*3365T>G (n.*3365T>G)
n.290T>G
n.444T>G
c.4554T>G (p.Leu1518=)
c.*2579T>G (n.*2579T>G)
c.4398T>G (p.Leu1466=)
n.4502T>G
c.2552T>G
c.3485T>G
c.3386T>G
c.*310T>G (n.*310T>G)
c.3371T>G
n.1291T>G
c.4476T>G (p.Leu1492=)
c.1351T>G
n.387T>G
c.3102T>G (p.Leu1034=)
c.4569T>G (p.Leu1523=)
c.4491T>G (p.Leu1497=)
c.2583T>G (p.Leu861=)
c.3606T>G (p.Leu1202=)
c.3384T>G (p.Leu1128=)
c.3369T>G (p.Leu1123=)
n.4661T>G
n.4646T>G
n.4698T>G
14g.45185256T>ACA389608153FANCMc.2767T>A (p.Ser923Thr)
c.333T>A
c.4348T>A (p.Ser1450Thr)
c.*3366T>A (n.*3366T>A)
n.291T>A
n.445T>A
c.4555T>A (p.Ser1519Thr)
c.*2580T>A (n.*2580T>A)
c.4399T>A (p.Ser1467Thr)
n.4503T>A
c.2553T>A
c.3486T>A
c.3387T>A
c.*311T>A (n.*311T>A)
c.3372T>A
n.1292T>A
c.4477T>A (p.Ser1493Thr)
c.1352T>A
n.388T>A
c.3103T>A (p.Ser1035Thr)
c.4570T>A (p.Ser1524Thr)
c.4492T>A (p.Ser1498Thr)
c.2584T>A (p.Ser862Thr)
c.3607T>A (p.Ser1203Thr)
c.3385T>A (p.Ser1129Thr)
c.3370T>A (p.Ser1124Thr)
n.4662T>A
n.4647T>A
n.4699T>A
14g.45185256T>CCA389608154FANCMc.2767T>C (p.Ser923Pro)
c.333T>C
c.4348T>C (p.Ser1450Pro)
c.*3366T>C (n.*3366T>C)
n.291T>C
n.445T>C
c.4555T>C (p.Ser1519Pro)
c.*2580T>C (n.*2580T>C)
c.4399T>C (p.Ser1467Pro)
n.4503T>C
c.2553T>C
c.3486T>C
c.3387T>C
c.*311T>C (n.*311T>C)
c.3372T>C
n.1292T>C
c.4477T>C (p.Ser1493Pro)
c.1352T>C
n.388T>C
c.3103T>C (p.Ser1035Pro)
c.4570T>C (p.Ser1524Pro)
c.4492T>C (p.Ser1498Pro)
c.2584T>C (p.Ser862Pro)
c.3607T>C (p.Ser1203Pro)
c.3385T>C (p.Ser1129Pro)
c.3370T>C (p.Ser1124Pro)
n.4662T>C
n.4647T>C
n.4699T>C
14g.45185256T>GCA389608155FANCMc.2767T>G (p.Ser923Ala)
c.333T>G
c.4348T>G (p.Ser1450Ala)
c.*3366T>G (n.*3366T>G)
n.291T>G
n.445T>G
c.4555T>G (p.Ser1519Ala)
c.*2580T>G (n.*2580T>G)
c.4399T>G (p.Ser1467Ala)
n.4503T>G
c.2553T>G
c.3486T>G
c.3387T>G
c.*311T>G (n.*311T>G)
c.3372T>G
n.1292T>G
c.4477T>G (p.Ser1493Ala)
c.1352T>G
n.388T>G
c.3103T>G (p.Ser1035Ala)
c.4570T>G (p.Ser1524Ala)
c.4492T>G (p.Ser1498Ala)
c.2584T>G (p.Ser862Ala)
c.3607T>G (p.Ser1203Ala)
c.3385T>G (p.Ser1129Ala)
c.3370T>G (p.Ser1124Ala)
n.4662T>G
n.4647T>G
n.4699T>G
14g.45185257C>ACA389608156FANCMc.2768C>A (p.Ser923Tyr)
c.334C>A
c.4349C>A (p.Ser1450Tyr)
c.*3367C>A (n.*3367C>A)
n.292C>A
n.446C>A
c.4556C>A (p.Ser1519Tyr)
c.*2581C>A (n.*2581C>A)
c.4400C>A (p.Ser1467Tyr)
n.4504C>A
c.2554C>A
c.3487C>A
c.3388C>A
c.*312C>A (n.*312C>A)
c.3373C>A
n.1293C>A
c.4478C>A (p.Ser1493Tyr)
c.1353C>A
n.389C>A
c.3104C>A (p.Ser1035Tyr)
c.4571C>A (p.Ser1524Tyr)
c.4493C>A (p.Ser1498Tyr)
c.2585C>A (p.Ser862Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3386C>A (p.Ser1129Tyr)
c.3371C>A (p.Ser1124Tyr)
n.4663C>A
n.4648C>A
n.4700C>A
 dbSNP gnomAD v4
14g.45185257C=CA2133624478FANCMc.2768C= (p.Ser923=)
c.334C=
c.4349C= (p.Ser1450=)
c.*3367C= (n.*3367C=)
n.292C=
n.446C=
c.4556C= (p.Ser1519=)
c.*2581C= (n.*2581C=)
c.4400C= (p.Ser1467=)
n.4504C=
c.2554C=
c.3487C=
c.3388C=
c.*312C= (n.*312C=)
c.3373C=
n.1293C=
c.4478C= (p.Ser1493=)
c.1353C=
n.389C=
c.3104C= (p.Ser1035=)
c.4571C= (p.Ser1524=)
c.4493C= (p.Ser1498=)
c.2585C= (p.Ser862=)
c.3608C= (p.Ser1203=)
c.3386C= (p.Ser1129=)
c.3371C= (p.Ser1124=)
n.4663C=
n.4648C=
n.4700C=
14g.45185257C>GCA7169789FANCMc.2768C>G (p.Ser923Cys)
c.334C>G
c.4349C>G (p.Ser1450Cys)
c.*3367C>G (n.*3367C>G)
n.292C>G
n.446C>G
c.4556C>G (p.Ser1519Cys)
c.*2581C>G (n.*2581C>G)
c.4400C>G (p.Ser1467Cys)
n.4504C>G
c.2554C>G
c.3487C>G
c.3388C>G
c.*312C>G (n.*312C>G)
c.3373C>G
n.1293C>G
c.4478C>G (p.Ser1493Cys)
c.1353C>G
n.389C>G
c.3104C>G (p.Ser1035Cys)
c.4571C>G (p.Ser1524Cys)
c.4493C>G (p.Ser1498Cys)
c.2585C>G (p.Ser862Cys)
c.3608C>G (p.Ser1203Cys)
c.3386C>G (p.Ser1129Cys)
c.3371C>G (p.Ser1124Cys)
n.4663C>G
n.4648C>G
n.4700C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185257C>TCA389608157FANCMc.2768C>T (p.Ser923Phe)
c.334C>T
c.4349C>T (p.Ser1450Phe)
c.*3367C>T (n.*3367C>T)
n.292C>T
n.446C>T
c.4556C>T (p.Ser1519Phe)
c.*2581C>T (n.*2581C>T)
c.4400C>T (p.Ser1467Phe)
n.4504C>T
c.2554C>T
c.3487C>T
c.3388C>T
c.*312C>T (n.*312C>T)
c.3373C>T
n.1293C>T
c.4478C>T (p.Ser1493Phe)
c.1353C>T
n.389C>T
c.3104C>T (p.Ser1035Phe)
c.4571C>T (p.Ser1524Phe)
c.4493C>T (p.Ser1498Phe)
c.2585C>T (p.Ser862Phe)
c.3608C>T (p.Ser1203Phe)
c.3386C>T (p.Ser1129Phe)
c.3371C>T (p.Ser1124Phe)
n.4663C>T
n.4648C>T
n.4700C>T
14g.45185258T>ACA486141353FANCMc.2769T>A (p.Ser923=)
c.335T>A
c.4350T>A (p.Ser1450=)
c.*3368T>A (n.*3368T>A)
n.293T>A
n.447T>A
c.4557T>A (p.Ser1519=)
c.*2582T>A (n.*2582T>A)
c.4401T>A (p.Ser1467=)
n.4505T>A
c.2555T>A
c.3488T>A
c.3389T>A
c.*313T>A (n.*313T>A)
c.3374T>A
n.1294T>A
c.4479T>A (p.Ser1493=)
c.1354T>A
n.390T>A
c.3105T>A (p.Ser1035=)
c.4572T>A (p.Ser1524=)
c.4494T>A (p.Ser1498=)
c.2586T>A (p.Ser862=)
c.3609T>A (p.Ser1203=)
c.3387T>A (p.Ser1129=)
c.3372T>A (p.Ser1124=)
n.4664T>A
n.4649T>A
n.4701T>A
14g.45185258T>CCA486141354FANCMc.2769T>C (p.Ser923=)
c.335T>C
c.4350T>C (p.Ser1450=)
c.*3368T>C (n.*3368T>C)
n.293T>C
n.447T>C
c.4557T>C (p.Ser1519=)
c.*2582T>C (n.*2582T>C)
c.4401T>C (p.Ser1467=)
n.4505T>C
c.2555T>C
c.3488T>C
c.3389T>C
c.*313T>C (n.*313T>C)
c.3374T>C
n.1294T>C
c.4479T>C (p.Ser1493=)
c.1354T>C
n.390T>C
c.3105T>C (p.Ser1035=)
c.4572T>C (p.Ser1524=)
c.4494T>C (p.Ser1498=)
c.2586T>C (p.Ser862=)
c.3609T>C (p.Ser1203=)
c.3387T>C (p.Ser1129=)
c.3372T>C (p.Ser1124=)
n.4664T>C
n.4649T>C
n.4701T>C
14g.45185258T>GCA486141355FANCMc.2769T>G (p.Ser923=)
c.335T>G
c.4350T>G (p.Ser1450=)
c.*3368T>G (n.*3368T>G)
n.293T>G
n.447T>G
c.4557T>G (p.Ser1519=)
c.*2582T>G (n.*2582T>G)
c.4401T>G (p.Ser1467=)
n.4505T>G
c.2555T>G
c.3488T>G
c.3389T>G
c.*313T>G (n.*313T>G)
c.3374T>G
n.1294T>G
c.4479T>G (p.Ser1493=)
c.1354T>G
n.390T>G
c.3105T>G (p.Ser1035=)
c.4572T>G (p.Ser1524=)
c.4494T>G (p.Ser1498=)
c.2586T>G (p.Ser862=)
c.3609T>G (p.Ser1203=)
c.3387T>G (p.Ser1129=)
c.3372T>G (p.Ser1124=)
n.4664T>G
n.4649T>G
n.4701T>G
14g.45185258_45185261delinsTGAACA2133624479FANCMc.2769_2772delinsTGAA (p.Ser923=)
c.335_338delinsTGAA
c.4350_4353delinsTGAA (p.Ser1450=)
c.*3368_*3371delinsTGAA (n.*3368_*3371delinsTGAA)
n.293_296delinsTGAA
n.447_450delinsTGAA
c.4557_4560delinsTGAA (p.Ser1519=)
c.*2582_*2585delinsTGAA (n.*2582_*2585delinsTGAA)
c.4401_4404delinsTGAA (p.Ser1467=)
n.4505_4508delinsTGAA
c.2555_2558delinsTGAA
c.3488_3491delinsTGAA
c.3389_3392delinsTGAA
c.*313_*316delinsTGAA (n.*313_*316delinsTGAA)
c.3374_3377delinsTGAA
n.1294_1297delinsTGAA
c.4479_4482delinsTGAA (p.Ser1493=)
c.1354_1357delinsTGAA
n.390_393delinsTGAA
c.3105_3108delinsTGAA (p.Ser1035=)
c.4572_4575delinsTGAA (p.Ser1524=)
c.4494_4497delinsTGAA (p.Ser1498=)
c.2586_2589delinsTGAA (p.Ser862=)
c.3609_3612delinsTGAA (p.Ser1203=)
c.3387_3390delinsTGAA (p.Ser1129=)
c.3372_3375delinsTGAA (p.Ser1124=)
n.4664_4667delinsTGAA
n.4649_4652delinsTGAA
n.4701_4704delinsTGAA
14g.45185259G>ACA389608160FANCMc.2770G>A (p.Glu924Lys)
c.336G>A
c.4351G>A (p.Glu1451Lys)
c.*3369G>A (n.*3369G>A)
n.294G>A
n.448G>A
c.4558G>A (p.Glu1520Lys)
c.*2583G>A (n.*2583G>A)
c.4402G>A (p.Glu1468Lys)
n.4506G>A
c.2556G>A
c.3489G>A
c.3390G>A
c.*314G>A (n.*314G>A)
c.3375G>A
n.1295G>A
c.4480G>A (p.Glu1494Lys)
c.1355G>A
n.391G>A
c.3106G>A (p.Glu1036Lys)
c.4573G>A (p.Glu1525Lys)
c.4495G>A (p.Glu1499Lys)
c.2587G>A (p.Glu863Lys)
c.3610G>A (p.Glu1204Lys)
c.3388G>A (p.Glu1130Lys)
c.3373G>A (p.Glu1125Lys)
n.4665G>A
n.4650G>A
n.4702G>A
14g.45185259G>CCA389608159FANCMc.2770G>C (p.Glu924Gln)
c.336G>C
c.4351G>C (p.Glu1451Gln)
c.*3369G>C (n.*3369G>C)
n.294G>C
n.448G>C
c.4558G>C (p.Glu1520Gln)
c.*2583G>C (n.*2583G>C)
c.4402G>C (p.Glu1468Gln)
n.4506G>C
c.2556G>C
c.3489G>C
c.3390G>C
c.*314G>C (n.*314G>C)
c.3375G>C
n.1295G>C
c.4480G>C (p.Glu1494Gln)
c.1355G>C
n.391G>C
c.3106G>C (p.Glu1036Gln)
c.4573G>C (p.Glu1525Gln)
c.4495G>C (p.Glu1499Gln)
c.2587G>C (p.Glu863Gln)
c.3610G>C (p.Glu1204Gln)
c.3388G>C (p.Glu1130Gln)
c.3373G>C (p.Glu1125Gln)
n.4665G>C
n.4650G>C
n.4702G>C
14g.45185259G>TCA389608158FANCMc.2770G>T (p.Glu924Ter)
c.336G>T
c.4351G>T (p.Glu1451Ter)
c.*3369G>T (n.*3369G>T)
n.294G>T
n.448G>T
c.4558G>T (p.Glu1520Ter)
c.*2583G>T (n.*2583G>T)
c.4402G>T (p.Glu1468Ter)
n.4506G>T
c.2556G>T
c.3489G>T
c.3390G>T
c.*314G>T (n.*314G>T)
c.3375G>T
n.1295G>T
c.4480G>T (p.Glu1494Ter)
c.1355G>T
n.391G>T
c.3106G>T (p.Glu1036Ter)
c.4573G>T (p.Glu1525Ter)
c.4495G>T (p.Glu1499Ter)
c.2587G>T (p.Glu863Ter)
c.3610G>T (p.Glu1204Ter)
c.3388G>T (p.Glu1130Ter)
c.3373G>T (p.Glu1125Ter)
n.4665G>T
n.4650G>T
n.4702G>T
14g.45185264_45185266delCA7169790FANCMc.2775_2777del (p.Glu925del)
c.341_343del
c.4356_4358del (p.Glu1452del)
c.*3374_*3376del (n.*3374_*3376del)
n.299_301del
n.453_455del
c.4563_4565del (p.Glu1521del)
c.*2588_*2590del (n.*2588_*2590del)
c.4407_4409del (p.Glu1469del)
n.4511_4513del
c.2561_2563del
c.3494_3496del
c.3395_3397del
c.*319_*321del (n.*319_*321del)
c.3380_3382del
n.1300_1302del
c.4485_4487del (p.Glu1495del)
c.1360_1362del
n.396_398del
c.3111_3113del (p.Glu1037del)
c.4578_4580del (p.Glu1526del)
c.4500_4502del (p.Glu1500del)
c.2592_2594del (p.Glu864del)
c.3615_3617del (p.Glu1205del)
c.3393_3395del (p.Glu1131del)
c.3378_3380del (p.Glu1126del)
n.4670_4672del
n.4655_4657del
n.4707_4709del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185260A=CA2133624481FANCMc.2771A= (p.Glu924=)
c.337A=
c.4352A= (p.Glu1451=)
c.*3370A= (n.*3370A=)
n.295A=
n.449A=
c.4559A= (p.Glu1520=)
c.*2584A= (n.*2584A=)
c.4403A= (p.Glu1468=)
n.4507A=
c.2557A=
c.3490A=
c.3391A=
c.*315A= (n.*315A=)
c.3376A=
n.1296A=
c.4481A= (p.Glu1494=)
c.1356A=
n.392A=
c.3107A= (p.Glu1036=)
c.4574A= (p.Glu1525=)
c.4496A= (p.Glu1499=)
c.2588A= (p.Glu863=)
c.3611A= (p.Glu1204=)
c.3389A= (p.Glu1130=)
c.3374A= (p.Glu1125=)
n.4666A=
n.4651A=
n.4703A=
14g.45185260A>CCA389608161FANCMc.2771A>C (p.Glu924Ala)
c.337A>C
c.4352A>C (p.Glu1451Ala)
c.*3370A>C (n.*3370A>C)
n.295A>C
n.449A>C
c.4559A>C (p.Glu1520Ala)
c.*2584A>C (n.*2584A>C)
c.4403A>C (p.Glu1468Ala)
n.4507A>C
c.2557A>C
c.3490A>C
c.3391A>C
c.*315A>C (n.*315A>C)
c.3376A>C
n.1296A>C
c.4481A>C (p.Glu1494Ala)
c.1356A>C
n.392A>C
c.3107A>C (p.Glu1036Ala)
c.4574A>C (p.Glu1525Ala)
c.4496A>C (p.Glu1499Ala)
c.2588A>C (p.Glu863Ala)
c.3611A>C (p.Glu1204Ala)
c.3389A>C (p.Glu1130Ala)
c.3374A>C (p.Glu1125Ala)
n.4666A>C
n.4651A>C
n.4703A>C
14g.45185260A>GCA389608162FANCMc.2771A>G (p.Glu924Gly)
c.337A>G
c.4352A>G (p.Glu1451Gly)
c.*3370A>G (n.*3370A>G)
n.295A>G
n.449A>G
c.4559A>G (p.Glu1520Gly)
c.*2584A>G (n.*2584A>G)
c.4403A>G (p.Glu1468Gly)
n.4507A>G
c.2557A>G
c.3490A>G
c.3391A>G
c.*315A>G (n.*315A>G)
c.3376A>G
n.1296A>G
c.4481A>G (p.Glu1494Gly)
c.1356A>G
n.392A>G
c.3107A>G (p.Glu1036Gly)
c.4574A>G (p.Glu1525Gly)
c.4496A>G (p.Glu1499Gly)
c.2588A>G (p.Glu863Gly)
c.3611A>G (p.Glu1204Gly)
c.3389A>G (p.Glu1130Gly)
c.3374A>G (p.Glu1125Gly)
n.4666A>G
n.4651A>G
n.4703A>G
 dbSNP gnomAD v2 gnomAD v4
14g.45185260A>TCA389608163FANCMc.2771A>T (p.Glu924Val)
c.337A>T
c.4352A>T (p.Glu1451Val)
c.*3370A>T (n.*3370A>T)
n.295A>T
n.449A>T
c.4559A>T (p.Glu1520Val)
c.*2584A>T (n.*2584A>T)
c.4403A>T (p.Glu1468Val)
n.4507A>T
c.2557A>T
c.3490A>T
c.3391A>T
c.*315A>T (n.*315A>T)
c.3376A>T
n.1296A>T
c.4481A>T (p.Glu1494Val)
c.1356A>T
n.392A>T
c.3107A>T (p.Glu1036Val)
c.4574A>T (p.Glu1525Val)
c.4496A>T (p.Glu1499Val)
c.2588A>T (p.Glu863Val)
c.3611A>T (p.Glu1204Val)
c.3389A>T (p.Glu1130Val)
c.3374A>T (p.Glu1125Val)
n.4666A>T
n.4651A>T
n.4703A>T
14g.45185261A=CA2133624483FANCMc.2772A= (p.Glu924=)
c.338A=
c.4353A= (p.Glu1451=)
c.*3371A= (n.*3371A=)
n.296A=
n.450A=
c.4560A= (p.Glu1520=)
c.*2585A= (n.*2585A=)
c.4404A= (p.Glu1468=)
n.4508A=
c.2558A=
c.3491A=
c.3392A=
c.*316A= (n.*316A=)
c.3377A=
n.1297A=
c.4482A= (p.Glu1494=)
c.1357A=
n.393A=
c.3108A= (p.Glu1036=)
c.4575A= (p.Glu1525=)
c.4497A= (p.Glu1499=)
c.2589A= (p.Glu863=)
c.3612A= (p.Glu1204=)
c.3390A= (p.Glu1130=)
c.3375A= (p.Glu1125=)
n.4667A=
n.4652A=
n.4704A=
14g.45185261A>CCA7169791FANCMc.2772A>C (p.Glu924Asp)
c.338A>C
c.4353A>C (p.Glu1451Asp)
c.*3371A>C (n.*3371A>C)
n.296A>C
n.450A>C
c.4560A>C (p.Glu1520Asp)
c.*2585A>C (n.*2585A>C)
c.4404A>C (p.Glu1468Asp)
n.4508A>C
c.2558A>C
c.3491A>C
c.3392A>C
c.*316A>C (n.*316A>C)
c.3377A>C
n.1297A>C
c.4482A>C (p.Glu1494Asp)
c.1357A>C
n.393A>C
c.3108A>C (p.Glu1036Asp)
c.4575A>C (p.Glu1525Asp)
c.4497A>C (p.Glu1499Asp)
c.2589A>C (p.Glu863Asp)
c.3612A>C (p.Glu1204Asp)
c.3390A>C (p.Glu1130Asp)
c.3375A>C (p.Glu1125Asp)
n.4667A>C
n.4652A>C
n.4704A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185261A>GCA486141356FANCMc.2772A>G (p.Glu924=)
c.338A>G
c.4353A>G (p.Glu1451=)
c.*3371A>G (n.*3371A>G)
n.296A>G
n.450A>G
c.4560A>G (p.Glu1520=)
c.*2585A>G (n.*2585A>G)
c.4404A>G (p.Glu1468=)
n.4508A>G
c.2558A>G
c.3491A>G
c.3392A>G
c.*316A>G (n.*316A>G)
c.3377A>G
n.1297A>G
c.4482A>G (p.Glu1494=)
c.1357A>G
n.393A>G
c.3108A>G (p.Glu1036=)
c.4575A>G (p.Glu1525=)
c.4497A>G (p.Glu1499=)
c.2589A>G (p.Glu863=)
c.3612A>G (p.Glu1204=)
c.3390A>G (p.Glu1130=)
c.3375A>G (p.Glu1125=)
n.4667A>G
n.4652A>G
n.4704A>G
14g.45185261A>TCA389608164FANCMc.2772A>T (p.Glu924Asp)
c.338A>T
c.4353A>T (p.Glu1451Asp)
c.*3371A>T (n.*3371A>T)
n.296A>T
n.450A>T
c.4560A>T (p.Glu1520Asp)
c.*2585A>T (n.*2585A>T)
c.4404A>T (p.Glu1468Asp)
n.4508A>T
c.2558A>T
c.3491A>T
c.3392A>T
c.*316A>T (n.*316A>T)
c.3377A>T
n.1297A>T
c.4482A>T (p.Glu1494Asp)
c.1357A>T
n.393A>T
c.3108A>T (p.Glu1036Asp)
c.4575A>T (p.Glu1525Asp)
c.4497A>T (p.Glu1499Asp)
c.2589A>T (p.Glu863Asp)
c.3612A>T (p.Glu1204Asp)
c.3390A>T (p.Glu1130Asp)
c.3375A>T (p.Glu1125Asp)
n.4667A>T
n.4652A>T
n.4704A>T
14g.45185262G>ACA389608167FANCMc.2773G>A (p.Glu925Lys)
c.339G>A
c.4354G>A (p.Glu1452Lys)
c.*3372G>A (n.*3372G>A)
n.297G>A
n.451G>A
c.4561G>A (p.Glu1521Lys)
c.*2586G>A (n.*2586G>A)
c.4405G>A (p.Glu1469Lys)
n.4509G>A
c.2559G>A
c.3492G>A
c.3393G>A
c.*317G>A (n.*317G>A)
c.3378G>A
n.1298G>A
c.4483G>A (p.Glu1495Lys)
c.1358G>A
n.394G>A
c.3109G>A (p.Glu1037Lys)
c.4576G>A (p.Glu1526Lys)
c.4498G>A (p.Glu1500Lys)
c.2590G>A (p.Glu864Lys)
c.3613G>A (p.Glu1205Lys)
c.3391G>A (p.Glu1131Lys)
c.3376G>A (p.Glu1126Lys)
n.4668G>A
n.4653G>A
n.4705G>A
14g.45185262G>CCA389608165FANCMc.2773G>C (p.Glu925Gln)
c.339G>C
c.4354G>C (p.Glu1452Gln)
c.*3372G>C (n.*3372G>C)
n.297G>C
n.451G>C
c.4561G>C (p.Glu1521Gln)
c.*2586G>C (n.*2586G>C)
c.4405G>C (p.Glu1469Gln)
n.4509G>C
c.2559G>C
c.3492G>C
c.3393G>C
c.*317G>C (n.*317G>C)
c.3378G>C
n.1298G>C
c.4483G>C (p.Glu1495Gln)
c.1358G>C
n.394G>C
c.3109G>C (p.Glu1037Gln)
c.4576G>C (p.Glu1526Gln)
c.4498G>C (p.Glu1500Gln)
c.2590G>C (p.Glu864Gln)
c.3613G>C (p.Glu1205Gln)
c.3391G>C (p.Glu1131Gln)
c.3376G>C (p.Glu1126Gln)
n.4668G>C
n.4653G>C
n.4705G>C
14g.45185262G>TCA389608166FANCMc.2773G>T (p.Glu925Ter)
c.339G>T
c.4354G>T (p.Glu1452Ter)
c.*3372G>T (n.*3372G>T)
n.297G>T
n.451G>T
c.4561G>T (p.Glu1521Ter)
c.*2586G>T (n.*2586G>T)
c.4405G>T (p.Glu1469Ter)
n.4509G>T
c.2559G>T
c.3492G>T
c.3393G>T
c.*317G>T (n.*317G>T)
c.3378G>T
n.1298G>T
c.4483G>T (p.Glu1495Ter)
c.1358G>T
n.394G>T
c.3109G>T (p.Glu1037Ter)
c.4576G>T (p.Glu1526Ter)
c.4498G>T (p.Glu1500Ter)
c.2590G>T (p.Glu864Ter)
c.3613G>T (p.Glu1205Ter)
c.3391G>T (p.Glu1131Ter)
c.3376G>T (p.Glu1126Ter)
n.4668G>T
n.4653G>T
n.4705G>T
14g.45185263A>CCA389608168FANCMc.2774A>C (p.Glu925Ala)
c.340A>C
c.4355A>C (p.Glu1452Ala)
c.*3373A>C (n.*3373A>C)
n.298A>C
n.452A>C
c.4562A>C (p.Glu1521Ala)
c.*2587A>C (n.*2587A>C)
c.4406A>C (p.Glu1469Ala)
n.4510A>C
c.2560A>C
c.3493A>C
c.3394A>C
c.*318A>C (n.*318A>C)
c.3379A>C
n.1299A>C
c.4484A>C (p.Glu1495Ala)
c.1359A>C
n.395A>C
c.3110A>C (p.Glu1037Ala)
c.4577A>C (p.Glu1526Ala)
c.4499A>C (p.Glu1500Ala)
c.2591A>C (p.Glu864Ala)
c.3614A>C (p.Glu1205Ala)
c.3392A>C (p.Glu1131Ala)
c.3377A>C (p.Glu1126Ala)
n.4669A>C
n.4654A>C
n.4706A>C
14g.45185263A>GCA389608169FANCMc.2774A>G (p.Glu925Gly)
c.340A>G
c.4355A>G (p.Glu1452Gly)
c.*3373A>G (n.*3373A>G)
n.298A>G
n.452A>G
c.4562A>G (p.Glu1521Gly)
c.*2587A>G (n.*2587A>G)
c.4406A>G (p.Glu1469Gly)
n.4510A>G
c.2560A>G
c.3493A>G
c.3394A>G
c.*318A>G (n.*318A>G)
c.3379A>G
n.1299A>G
c.4484A>G (p.Glu1495Gly)
c.1359A>G
n.395A>G
c.3110A>G (p.Glu1037Gly)
c.4577A>G (p.Glu1526Gly)
c.4499A>G (p.Glu1500Gly)
c.2591A>G (p.Glu864Gly)
c.3614A>G (p.Glu1205Gly)
c.3392A>G (p.Glu1131Gly)
c.3377A>G (p.Glu1126Gly)
n.4669A>G
n.4654A>G
n.4706A>G
14g.45185263A>TCA389608170FANCMc.2774A>T (p.Glu925Val)
c.340A>T
c.4355A>T (p.Glu1452Val)
c.*3373A>T (n.*3373A>T)
n.298A>T
n.452A>T
c.4562A>T (p.Glu1521Val)
c.*2587A>T (n.*2587A>T)
c.4406A>T (p.Glu1469Val)
n.4510A>T
c.2560A>T
c.3493A>T
c.3394A>T
c.*318A>T (n.*318A>T)
c.3379A>T
n.1299A>T
c.4484A>T (p.Glu1495Val)
c.1359A>T
n.395A>T
c.3110A>T (p.Glu1037Val)
c.4577A>T (p.Glu1526Val)
c.4499A>T (p.Glu1500Val)
c.2591A>T (p.Glu864Val)
c.3614A>T (p.Glu1205Val)
c.3392A>T (p.Glu1131Val)
c.3377A>T (p.Glu1126Val)
n.4669A>T
n.4654A>T
n.4706A>T
 ClinVar gnomAD v4
14g.45185264A=CA2133624485FANCMc.2775A= (p.Glu925=)
c.341A=
c.4356A= (p.Glu1452=)
c.*3374A= (n.*3374A=)
n.299A=
n.453A=
c.4563A= (p.Glu1521=)
c.*2588A= (n.*2588A=)
c.4407A= (p.Glu1469=)
n.4511A=
c.2561A=
c.3494A=
c.3395A=
c.*319A= (n.*319A=)
c.3380A=
n.1300A=
c.4485A= (p.Glu1495=)
c.1360A=
n.396A=
c.3111A= (p.Glu1037=)
c.4578A= (p.Glu1526=)
c.4500A= (p.Glu1500=)
c.2592A= (p.Glu864=)
c.3615A= (p.Glu1205=)
c.3393A= (p.Glu1131=)
c.3378A= (p.Glu1126=)
n.4670A=
n.4655A=
n.4707A=
14g.45185264A>CCA7169792FANCMc.2775A>C (p.Glu925Asp)
c.341A>C
c.4356A>C (p.Glu1452Asp)
c.*3374A>C (n.*3374A>C)
n.299A>C
n.453A>C
c.4563A>C (p.Glu1521Asp)
c.*2588A>C (n.*2588A>C)
c.4407A>C (p.Glu1469Asp)
n.4511A>C
c.2561A>C
c.3494A>C
c.3395A>C
c.*319A>C (n.*319A>C)
c.3380A>C
n.1300A>C
c.4485A>C (p.Glu1495Asp)
c.1360A>C
n.396A>C
c.3111A>C (p.Glu1037Asp)
c.4578A>C (p.Glu1526Asp)
c.4500A>C (p.Glu1500Asp)
c.2592A>C (p.Glu864Asp)
c.3615A>C (p.Glu1205Asp)
c.3393A>C (p.Glu1131Asp)
c.3378A>C (p.Glu1126Asp)
n.4670A>C
n.4655A>C
n.4707A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185264A>GCA486141357FANCMc.2775A>G (p.Glu925=)
c.341A>G
c.4356A>G (p.Glu1452=)
c.*3374A>G (n.*3374A>G)
n.299A>G
n.453A>G
c.4563A>G (p.Glu1521=)
c.*2588A>G (n.*2588A>G)
c.4407A>G (p.Glu1469=)
n.4511A>G
c.2561A>G
c.3494A>G
c.3395A>G
c.*319A>G (n.*319A>G)
c.3380A>G
n.1300A>G
c.4485A>G (p.Glu1495=)
c.1360A>G
n.396A>G
c.3111A>G (p.Glu1037=)
c.4578A>G (p.Glu1526=)
c.4500A>G (p.Glu1500=)
c.2592A>G (p.Glu864=)
c.3615A>G (p.Glu1205=)
c.3393A>G (p.Glu1131=)
c.3378A>G (p.Glu1126=)
n.4670A>G
n.4655A>G
n.4707A>G
14g.45185264A>TCA389608171FANCMc.2775A>T (p.Glu925Asp)
c.341A>T
c.4356A>T (p.Glu1452Asp)
c.*3374A>T (n.*3374A>T)
n.299A>T
n.453A>T
c.4563A>T (p.Glu1521Asp)
c.*2588A>T (n.*2588A>T)
c.4407A>T (p.Glu1469Asp)
n.4511A>T
c.2561A>T
c.3494A>T
c.3395A>T
c.*319A>T (n.*319A>T)
c.3380A>T
n.1300A>T
c.4485A>T (p.Glu1495Asp)
c.1360A>T
n.396A>T
c.3111A>T (p.Glu1037Asp)
c.4578A>T (p.Glu1526Asp)
c.4500A>T (p.Glu1500Asp)
c.2592A>T (p.Glu864Asp)
c.3615A>T (p.Glu1205Asp)
c.3393A>T (p.Glu1131Asp)
c.3378A>T (p.Glu1126Asp)
n.4670A>T
n.4655A>T
n.4707A>T
14g.45185269_45185289delCA2624699560FANCMc.2780_2800del (p.Ala927_Asp933del)
c.346_366del
c.4361_4381del (p.Ala1454_Asp1460del)
c.*3379_*3399del (n.*3379_*3399del)
n.304_324del
n.458_478del
c.4568_4588del (p.Ala1523_Asp1529del)
c.*2593_*2613del (n.*2593_*2613del)
c.4412_4432del (p.Ala1471_Asp1477del)
n.4516_4536del
c.2566_2586del
c.3499_3519del
c.3400_3420del
c.*324_*344del (n.*324_*344del)
c.3385_3405del
n.1305_1325del
c.4490_4510del (p.Ala1497_Asp1503del)
c.1365_1385del
n.401_421del
c.3116_3136del (p.Ala1039_Asp1045del)
c.4583_4603del (p.Ala1528_Asp1534del)
c.4505_4525del (p.Ala1502_Asp1508del)
c.2597_2617del (p.Ala866_Asp872del)
c.3620_3640del (p.Ala1207_Asp1213del)
c.3398_3418del (p.Ala1133_Asp1139del)
c.3383_3403del (p.Ala1128_Asp1134del)
n.4675_4695del
n.4660_4680del
n.4712_4732del
 gnomAD v4
14g.45185265G>ACA259634549FANCMc.2776G>A (p.Asp926Asn)
c.342G>A
c.4357G>A (p.Asp1453Asn)
c.*3375G>A (n.*3375G>A)
n.300G>A
n.454G>A
c.4564G>A (p.Asp1522Asn)
c.*2589G>A (n.*2589G>A)
c.4408G>A (p.Asp1470Asn)
n.4512G>A
c.2562G>A
c.3495G>A
c.3396G>A
c.*320G>A (n.*320G>A)
c.3381G>A
n.1301G>A
c.4486G>A (p.Asp1496Asn)
c.1361G>A
n.397G>A
c.3112G>A (p.Asp1038Asn)
c.4579G>A (p.Asp1527Asn)
c.4501G>A (p.Asp1501Asn)
c.2593G>A (p.Asp865Asn)
c.3616G>A (p.Asp1206Asn)
c.3394G>A (p.Asp1132Asn)
c.3379G>A (p.Asp1127Asn)
n.4671G>A
n.4656G>A
n.4708G>A
 dbSNP
14g.45185265G>CCA389608173FANCMc.2776G>C (p.Asp926His)
c.342G>C
c.4357G>C (p.Asp1453His)
c.*3375G>C (n.*3375G>C)
n.300G>C
n.454G>C
c.4564G>C (p.Asp1522His)
c.*2589G>C (n.*2589G>C)
c.4408G>C (p.Asp1470His)
n.4512G>C
c.2562G>C
c.3495G>C
c.3396G>C
c.*320G>C (n.*320G>C)
c.3381G>C
n.1301G>C
c.4486G>C (p.Asp1496His)
c.1361G>C
n.397G>C
c.3112G>C (p.Asp1038His)
c.4579G>C (p.Asp1527His)
c.4501G>C (p.Asp1501His)
c.2593G>C (p.Asp865His)
c.3616G>C (p.Asp1206His)
c.3394G>C (p.Asp1132His)
c.3379G>C (p.Asp1127His)
n.4671G>C
n.4656G>C
n.4708G>C
 COSMIC
14g.45185265G=CA2133624487FANCMc.2776G= (p.Asp926=)
c.342G=
c.4357G= (p.Asp1453=)
c.*3375G= (n.*3375G=)
n.300G=
n.454G=
c.4564G= (p.Asp1522=)
c.*2589G= (n.*2589G=)
c.4408G= (p.Asp1470=)
n.4512G=
c.2562G=
c.3495G=
c.3396G=
c.*320G= (n.*320G=)
c.3381G=
n.1301G=
c.4486G= (p.Asp1496=)
c.1361G=
n.397G=
c.3112G= (p.Asp1038=)
c.4579G= (p.Asp1527=)
c.4501G= (p.Asp1501=)
c.2593G= (p.Asp865=)
c.3616G= (p.Asp1206=)
c.3394G= (p.Asp1132=)
c.3379G= (p.Asp1127=)
n.4671G=
n.4656G=
n.4708G=
14g.45185265G>TCA389608172FANCMc.2776G>T (p.Asp926Tyr)
c.342G>T
c.4357G>T (p.Asp1453Tyr)
c.*3375G>T (n.*3375G>T)
n.300G>T
n.454G>T
c.4564G>T (p.Asp1522Tyr)
c.*2589G>T (n.*2589G>T)
c.4408G>T (p.Asp1470Tyr)
n.4512G>T
c.2562G>T
c.3495G>T
c.3396G>T
c.*320G>T (n.*320G>T)
c.3381G>T
n.1301G>T
c.4486G>T (p.Asp1496Tyr)
c.1361G>T
n.397G>T
c.3112G>T (p.Asp1038Tyr)
c.4579G>T (p.Asp1527Tyr)
c.4501G>T (p.Asp1501Tyr)
c.2593G>T (p.Asp865Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3394G>T (p.Asp1132Tyr)
c.3379G>T (p.Asp1127Tyr)
n.4671G>T
n.4656G>T
n.4708G>T
 gnomAD v4
14g.45185266A=CA2133624489FANCMc.2777A= (p.Asp926=)
c.343A=
c.4358A= (p.Asp1453=)
c.*3376A= (n.*3376A=)
n.301A=
n.455A=
c.4565A= (p.Asp1522=)
c.*2590A= (n.*2590A=)
c.4409A= (p.Asp1470=)
n.4513A=
c.2563A=
c.3496A=
c.3397A=
c.*321A= (n.*321A=)
c.3382A=
n.1302A=
c.4487A= (p.Asp1496=)
c.1362A=
n.398A=
c.3113A= (p.Asp1038=)
c.4580A= (p.Asp1527=)
c.4502A= (p.Asp1501=)
c.2594A= (p.Asp865=)
c.3617A= (p.Asp1206=)
c.3395A= (p.Asp1132=)
c.3380A= (p.Asp1127=)
n.4672A=
n.4657A=
n.4709A=
14g.45185266A>CCA389608174FANCMc.2777A>C (p.Asp926Ala)
c.343A>C
c.4358A>C (p.Asp1453Ala)
c.*3376A>C (n.*3376A>C)
n.301A>C
n.455A>C
c.4565A>C (p.Asp1522Ala)
c.*2590A>C (n.*2590A>C)
c.4409A>C (p.Asp1470Ala)
n.4513A>C
c.2563A>C
c.3496A>C
c.3397A>C
c.*321A>C (n.*321A>C)
c.3382A>C
n.1302A>C
c.4487A>C (p.Asp1496Ala)
c.1362A>C
n.398A>C
c.3113A>C (p.Asp1038Ala)
c.4580A>C (p.Asp1527Ala)
c.4502A>C (p.Asp1501Ala)
c.2594A>C (p.Asp865Ala)
c.3617A>C (p.Asp1206Ala)
c.3395A>C (p.Asp1132Ala)
c.3380A>C (p.Asp1127Ala)
n.4672A>C
n.4657A>C
n.4709A>C
14g.45185266A>GCA7169793FANCMc.2777A>G (p.Asp926Gly)
c.343A>G
c.4358A>G (p.Asp1453Gly)
c.*3376A>G (n.*3376A>G)
n.301A>G
n.455A>G
c.4565A>G (p.Asp1522Gly)
c.*2590A>G (n.*2590A>G)
c.4409A>G (p.Asp1470Gly)
n.4513A>G
c.2563A>G
c.3496A>G
c.3397A>G
c.*321A>G (n.*321A>G)
c.3382A>G
n.1302A>G
c.4487A>G (p.Asp1496Gly)
c.1362A>G
n.398A>G
c.3113A>G (p.Asp1038Gly)
c.4580A>G (p.Asp1527Gly)
c.4502A>G (p.Asp1501Gly)
c.2594A>G (p.Asp865Gly)
c.3617A>G (p.Asp1206Gly)
c.3395A>G (p.Asp1132Gly)
c.3380A>G (p.Asp1127Gly)
n.4672A>G
n.4657A>G
n.4709A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185266A>TCA389608175FANCMc.2777A>T (p.Asp926Val)
c.343A>T
c.4358A>T (p.Asp1453Val)
c.*3376A>T (n.*3376A>T)
n.301A>T
n.455A>T
c.4565A>T (p.Asp1522Val)
c.*2590A>T (n.*2590A>T)
c.4409A>T (p.Asp1470Val)
n.4513A>T
c.2563A>T
c.3496A>T
c.3397A>T
c.*321A>T (n.*321A>T)
c.3382A>T
n.1302A>T
c.4487A>T (p.Asp1496Val)
c.1362A>T
n.398A>T
c.3113A>T (p.Asp1038Val)
c.4580A>T (p.Asp1527Val)
c.4502A>T (p.Asp1501Val)
c.2594A>T (p.Asp865Val)
c.3617A>T (p.Asp1206Val)
c.3395A>T (p.Asp1132Val)
c.3380A>T (p.Asp1127Val)
n.4672A>T
n.4657A>T
n.4709A>T
14g.45185267T>ACA389608176FANCMc.2778T>A (p.Asp926Glu)
c.344T>A
c.4359T>A (p.Asp1453Glu)
c.*3377T>A (n.*3377T>A)
n.302T>A
n.456T>A
c.4566T>A (p.Asp1522Glu)
c.*2591T>A (n.*2591T>A)
c.4410T>A (p.Asp1470Glu)
n.4514T>A
c.2564T>A
c.3497T>A
c.3398T>A
c.*322T>A (n.*322T>A)
c.3383T>A
n.1303T>A
c.4488T>A (p.Asp1496Glu)
c.1363T>A
n.399T>A
c.3114T>A (p.Asp1038Glu)
c.4581T>A (p.Asp1527Glu)
c.4503T>A (p.Asp1501Glu)
c.2595T>A (p.Asp865Glu)
c.3618T>A (p.Asp1206Glu)
c.3396T>A (p.Asp1132Glu)
c.3381T>A (p.Asp1127Glu)
n.4673T>A
n.4658T>A
n.4710T>A
14g.45185267T>CCA7169794FANCMc.2778T>C (p.Asp926=)
c.344T>C
c.4359T>C (p.Asp1453=)
c.*3377T>C (n.*3377T>C)
n.302T>C
n.456T>C
c.4566T>C (p.Asp1522=)
c.*2591T>C (n.*2591T>C)
c.4410T>C (p.Asp1470=)
n.4514T>C
c.2564T>C
c.3497T>C
c.3398T>C
c.*322T>C (n.*322T>C)
c.3383T>C
n.1303T>C
c.4488T>C (p.Asp1496=)
c.1363T>C
n.399T>C
c.3114T>C (p.Asp1038=)
c.4581T>C (p.Asp1527=)
c.4503T>C (p.Asp1501=)
c.2595T>C (p.Asp865=)
c.3618T>C (p.Asp1206=)
c.3396T>C (p.Asp1132=)
c.3381T>C (p.Asp1127=)
n.4673T>C
n.4658T>C
n.4710T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185267T>GCA389608177FANCMc.2778T>G (p.Asp926Glu)
c.344T>G
c.4359T>G (p.Asp1453Glu)
c.*3377T>G (n.*3377T>G)
n.302T>G
n.456T>G
c.4566T>G (p.Asp1522Glu)
c.*2591T>G (n.*2591T>G)
c.4410T>G (p.Asp1470Glu)
n.4514T>G
c.2564T>G
c.3497T>G
c.3398T>G
c.*322T>G (n.*322T>G)
c.3383T>G
n.1303T>G
c.4488T>G (p.Asp1496Glu)
c.1363T>G
n.399T>G
c.3114T>G (p.Asp1038Glu)
c.4581T>G (p.Asp1527Glu)
c.4503T>G (p.Asp1501Glu)
c.2595T>G (p.Asp865Glu)
c.3618T>G (p.Asp1206Glu)
c.3396T>G (p.Asp1132Glu)
c.3381T>G (p.Asp1127Glu)
n.4673T>G
n.4658T>G
n.4710T>G
 ClinVar dbSNP
14g.45185267T=CA2133624492FANCMc.2778T= (p.Asp926=)
c.344T=
c.4359T= (p.Asp1453=)
c.*3377T= (n.*3377T=)
n.302T=
n.456T=
c.4566T= (p.Asp1522=)
c.*2591T= (n.*2591T=)
c.4410T= (p.Asp1470=)
n.4514T=
c.2564T=
c.3497T=
c.3398T=
c.*322T= (n.*322T=)
c.3383T=
n.1303T=
c.4488T= (p.Asp1496=)
c.1363T=
n.399T=
c.3114T= (p.Asp1038=)
c.4581T= (p.Asp1527=)
c.4503T= (p.Asp1501=)
c.2595T= (p.Asp865=)
c.3618T= (p.Asp1206=)
c.3396T= (p.Asp1132=)
c.3381T= (p.Asp1127=)
n.4673T=
n.4658T=
n.4710T=
14g.45185268G>ACA389608178FANCMc.2779G>A (p.Ala927Thr)
c.345G>A
c.4360G>A (p.Ala1454Thr)
c.*3378G>A (n.*3378G>A)
n.303G>A
n.457G>A
c.4567G>A (p.Ala1523Thr)
c.*2592G>A (n.*2592G>A)
c.4411G>A (p.Ala1471Thr)
n.4515G>A
c.2565G>A
c.3498G>A
c.3399G>A
c.*323G>A (n.*323G>A)
c.3384G>A
n.1304G>A
c.4489G>A (p.Ala1497Thr)
c.1364G>A
n.400G>A
c.3115G>A (p.Ala1039Thr)
c.4582G>A (p.Ala1528Thr)
c.4504G>A (p.Ala1502Thr)
c.2596G>A (p.Ala866Thr)
c.3619G>A (p.Ala1207Thr)
c.3397G>A (p.Ala1133Thr)
c.3382G>A (p.Ala1128Thr)
n.4674G>A
n.4659G>A
n.4711G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185268G>CCA389608180FANCMc.2779G>C (p.Ala927Pro)
c.345G>C
c.4360G>C (p.Ala1454Pro)
c.*3378G>C (n.*3378G>C)
n.303G>C
n.457G>C
c.4567G>C (p.Ala1523Pro)
c.*2592G>C (n.*2592G>C)
c.4411G>C (p.Ala1471Pro)
n.4515G>C
c.2565G>C
c.3498G>C
c.3399G>C
c.*323G>C (n.*323G>C)
c.3384G>C
n.1304G>C
c.4489G>C (p.Ala1497Pro)
c.1364G>C
n.400G>C
c.3115G>C (p.Ala1039Pro)
c.4582G>C (p.Ala1528Pro)
c.4504G>C (p.Ala1502Pro)
c.2596G>C (p.Ala866Pro)
c.3619G>C (p.Ala1207Pro)
c.3397G>C (p.Ala1133Pro)
c.3382G>C (p.Ala1128Pro)
n.4674G>C
n.4659G>C
n.4711G>C
14g.45185268G=CA2133624494FANCMc.2779G= (p.Ala927=)
c.345G=
c.4360G= (p.Ala1454=)
c.*3378G= (n.*3378G=)
n.303G=
n.457G=
c.4567G= (p.Ala1523=)
c.*2592G= (n.*2592G=)
c.4411G= (p.Ala1471=)
n.4515G=
c.2565G=
c.3498G=
c.3399G=
c.*323G= (n.*323G=)
c.3384G=
n.1304G=
c.4489G= (p.Ala1497=)
c.1364G=
n.400G=
c.3115G= (p.Ala1039=)
c.4582G= (p.Ala1528=)
c.4504G= (p.Ala1502=)
c.2596G= (p.Ala866=)
c.3619G= (p.Ala1207=)
c.3397G= (p.Ala1133=)
c.3382G= (p.Ala1128=)
n.4674G=
n.4659G=
n.4711G=
14g.45185268G>TCA389608179FANCMc.2779G>T (p.Ala927Ser)
c.345G>T
c.4360G>T (p.Ala1454Ser)
c.*3378G>T (n.*3378G>T)
n.303G>T
n.457G>T
c.4567G>T (p.Ala1523Ser)
c.*2592G>T (n.*2592G>T)
c.4411G>T (p.Ala1471Ser)
n.4515G>T
c.2565G>T
c.3498G>T
c.3399G>T
c.*323G>T (n.*323G>T)
c.3384G>T
n.1304G>T
c.4489G>T (p.Ala1497Ser)
c.1364G>T
n.400G>T
c.3115G>T (p.Ala1039Ser)
c.4582G>T (p.Ala1528Ser)
c.4504G>T (p.Ala1502Ser)
c.2596G>T (p.Ala866Ser)
c.3619G>T (p.Ala1207Ser)
c.3397G>T (p.Ala1133Ser)
c.3382G>T (p.Ala1128Ser)
n.4674G>T
n.4659G>T
n.4711G>T
 dbSNP gnomAD v4
14g.45185269C>ACA259634556FANCMc.2780C>A (p.Ala927Glu)
c.346C>A
c.4361C>A (p.Ala1454Glu)
c.*3379C>A (n.*3379C>A)
n.304C>A
n.458C>A
c.4568C>A (p.Ala1523Glu)
c.*2593C>A (n.*2593C>A)
c.4412C>A (p.Ala1471Glu)
n.4516C>A
c.2566C>A
c.3499C>A
c.3400C>A
c.*324C>A (n.*324C>A)
c.3385C>A
n.1305C>A
c.4490C>A (p.Ala1497Glu)
c.1365C>A
n.401C>A
c.3116C>A (p.Ala1039Glu)
c.4583C>A (p.Ala1528Glu)
c.4505C>A (p.Ala1502Glu)
c.2597C>A (p.Ala866Glu)
c.3620C>A (p.Ala1207Glu)
c.3398C>A (p.Ala1133Glu)
c.3383C>A (p.Ala1128Glu)
n.4675C>A
n.4660C>A
n.4712C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185269C=CA2133624496FANCMc.2780C= (p.Ala927=)
c.346C=
c.4361C= (p.Ala1454=)
c.*3379C= (n.*3379C=)
n.304C=
n.458C=
c.4568C= (p.Ala1523=)
c.*2593C= (n.*2593C=)
c.4412C= (p.Ala1471=)
n.4516C=
c.2566C=
c.3499C=
c.3400C=
c.*324C= (n.*324C=)
c.3385C=
n.1305C=
c.4490C= (p.Ala1497=)
c.1365C=
n.401C=
c.3116C= (p.Ala1039=)
c.4583C= (p.Ala1528=)
c.4505C= (p.Ala1502=)
c.2597C= (p.Ala866=)
c.3620C= (p.Ala1207=)
c.3398C= (p.Ala1133=)
c.3383C= (p.Ala1128=)
n.4675C=
n.4660C=
n.4712C=
14g.45185269C>GCA259634558FANCMc.2780C>G (p.Ala927Gly)
c.346C>G
c.4361C>G (p.Ala1454Gly)
c.*3379C>G (n.*3379C>G)
n.304C>G
n.458C>G
c.4568C>G (p.Ala1523Gly)
c.*2593C>G (n.*2593C>G)
c.4412C>G (p.Ala1471Gly)
n.4516C>G
c.2566C>G
c.3499C>G
c.3400C>G
c.*324C>G (n.*324C>G)
c.3385C>G
n.1305C>G
c.4490C>G (p.Ala1497Gly)
c.1365C>G
n.401C>G
c.3116C>G (p.Ala1039Gly)
c.4583C>G (p.Ala1528Gly)
c.4505C>G (p.Ala1502Gly)
c.2597C>G (p.Ala866Gly)
c.3620C>G (p.Ala1207Gly)
c.3398C>G (p.Ala1133Gly)
c.3383C>G (p.Ala1128Gly)
n.4675C>G
n.4660C>G
n.4712C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185269C>TCA389608181FANCMc.2780C>T (p.Ala927Val)
c.346C>T
c.4361C>T (p.Ala1454Val)
c.*3379C>T (n.*3379C>T)
n.304C>T
n.458C>T
c.4568C>T (p.Ala1523Val)
c.*2593C>T (n.*2593C>T)
c.4412C>T (p.Ala1471Val)
n.4516C>T
c.2566C>T
c.3499C>T
c.3400C>T
c.*324C>T (n.*324C>T)
c.3385C>T
n.1305C>T
c.4490C>T (p.Ala1497Val)
c.1365C>T
n.401C>T
c.3116C>T (p.Ala1039Val)
c.4583C>T (p.Ala1528Val)
c.4505C>T (p.Ala1502Val)
c.2597C>T (p.Ala866Val)
c.3620C>T (p.Ala1207Val)
c.3398C>T (p.Ala1133Val)
c.3383C>T (p.Ala1128Val)
n.4675C>T
n.4660C>T
n.4712C>T
 dbSNP gnomAD v4
14g.45185270A>CCA486141358FANCMc.2781A>C (p.Ala927=)
c.347A>C
c.4362A>C (p.Ala1454=)
c.*3380A>C (n.*3380A>C)
n.305A>C
n.459A>C
c.4569A>C (p.Ala1523=)
c.*2594A>C (n.*2594A>C)
c.4413A>C (p.Ala1471=)
n.4517A>C
c.2567A>C
c.3500A>C
c.3401A>C
c.*325A>C (n.*325A>C)
c.3386A>C
n.1306A>C
c.4491A>C (p.Ala1497=)
c.1366A>C
n.402A>C
c.3117A>C (p.Ala1039=)
c.4584A>C (p.Ala1528=)
c.4506A>C (p.Ala1502=)
c.2598A>C (p.Ala866=)
c.3621A>C (p.Ala1207=)
c.3399A>C (p.Ala1133=)
c.3384A>C (p.Ala1128=)
n.4676A>C
n.4661A>C
n.4713A>C
14g.45185270A>GCA486141360FANCMc.2781A>G (p.Ala927=)
c.347A>G
c.4362A>G (p.Ala1454=)
c.*3380A>G (n.*3380A>G)
n.305A>G
n.459A>G
c.4569A>G (p.Ala1523=)
c.*2594A>G (n.*2594A>G)
c.4413A>G (p.Ala1471=)
n.4517A>G
c.2567A>G
c.3500A>G
c.3401A>G
c.*325A>G (n.*325A>G)
c.3386A>G
n.1306A>G
c.4491A>G (p.Ala1497=)
c.1366A>G
n.402A>G
c.3117A>G (p.Ala1039=)
c.4584A>G (p.Ala1528=)
c.4506A>G (p.Ala1502=)
c.2598A>G (p.Ala866=)
c.3621A>G (p.Ala1207=)
c.3399A>G (p.Ala1133=)
c.3384A>G (p.Ala1128=)
n.4676A>G
n.4661A>G
n.4713A>G
14g.45185270A>TCA486141359FANCMc.2781A>T (p.Ala927=)
c.347A>T
c.4362A>T (p.Ala1454=)
c.*3380A>T (n.*3380A>T)
n.305A>T
n.459A>T
c.4569A>T (p.Ala1523=)
c.*2594A>T (n.*2594A>T)
c.4413A>T (p.Ala1471=)
n.4517A>T
c.2567A>T
c.3500A>T
c.3401A>T
c.*325A>T (n.*325A>T)
c.3386A>T
n.1306A>T
c.4491A>T (p.Ala1497=)
c.1366A>T
n.402A>T
c.3117A>T (p.Ala1039=)
c.4584A>T (p.Ala1528=)
c.4506A>T (p.Ala1502=)
c.2598A>T (p.Ala866=)
c.3621A>T (p.Ala1207=)
c.3399A>T (p.Ala1133=)
c.3384A>T (p.Ala1128=)
n.4676A>T
n.4661A>T
n.4713A>T
14g.45185271G>ACA389608182FANCMc.2782G>A (p.Glu928Lys)
c.348G>A
c.4363G>A (p.Glu1455Lys)
c.*3381G>A (n.*3381G>A)
n.306G>A
n.460G>A
c.4570G>A (p.Glu1524Lys)
c.*2595G>A (n.*2595G>A)
c.4414G>A (p.Glu1472Lys)
n.4518G>A
c.2568G>A
c.3501G>A
c.3402G>A
c.*326G>A (n.*326G>A)
c.3387G>A
n.1307G>A
c.4492G>A (p.Glu1498Lys)
c.1367G>A
n.403G>A
c.3118G>A (p.Glu1040Lys)
c.4585G>A (p.Glu1529Lys)
c.4507G>A (p.Glu1503Lys)
c.2599G>A (p.Glu867Lys)
c.3622G>A (p.Glu1208Lys)
c.3400G>A (p.Glu1134Lys)
c.3385G>A (p.Glu1129Lys)
n.4677G>A
n.4662G>A
n.4714G>A
14g.45185271G>CCA389608183FANCMc.2782G>C (p.Glu928Gln)
c.348G>C
c.4363G>C (p.Glu1455Gln)
c.*3381G>C (n.*3381G>C)
n.306G>C
n.460G>C
c.4570G>C (p.Glu1524Gln)
c.*2595G>C (n.*2595G>C)
c.4414G>C (p.Glu1472Gln)
n.4518G>C
c.2568G>C
c.3501G>C
c.3402G>C
c.*326G>C (n.*326G>C)
c.3387G>C
n.1307G>C
c.4492G>C (p.Glu1498Gln)
c.1367G>C
n.403G>C
c.3118G>C (p.Glu1040Gln)
c.4585G>C (p.Glu1529Gln)
c.4507G>C (p.Glu1503Gln)
c.2599G>C (p.Glu867Gln)
c.3622G>C (p.Glu1208Gln)
c.3400G>C (p.Glu1134Gln)
c.3385G>C (p.Glu1129Gln)
n.4677G>C
n.4662G>C
n.4714G>C
14g.45185271G>TCA389608184FANCMc.2782G>T (p.Glu928Ter)
c.348G>T
c.4363G>T (p.Glu1455Ter)
c.*3381G>T (n.*3381G>T)
n.306G>T
n.460G>T
c.4570G>T (p.Glu1524Ter)
c.*2595G>T (n.*2595G>T)
c.4414G>T (p.Glu1472Ter)
n.4518G>T
c.2568G>T
c.3501G>T
c.3402G>T
c.*326G>T (n.*326G>T)
c.3387G>T
n.1307G>T
c.4492G>T (p.Glu1498Ter)
c.1367G>T
n.403G>T
c.3118G>T (p.Glu1040Ter)
c.4585G>T (p.Glu1529Ter)
c.4507G>T (p.Glu1503Ter)
c.2599G>T (p.Glu867Ter)
c.3622G>T (p.Glu1208Ter)
c.3400G>T (p.Glu1134Ter)
c.3385G>T (p.Glu1129Ter)
n.4677G>T
n.4662G>T
n.4714G>T
14g.45185272A=CA2133624498FANCMc.2783A= (p.Glu928=)
c.349A=
c.4364A= (p.Glu1455=)
c.*3382A= (n.*3382A=)
n.307A=
n.461A=
c.4571A= (p.Glu1524=)
c.*2596A= (n.*2596A=)
c.4415A= (p.Glu1472=)
n.4519A=
c.2569A=
c.3502A=
c.3403A=
c.*327A= (n.*327A=)
c.3388A=
n.1308A=
c.4493A= (p.Glu1498=)
c.1368A=
n.404A=
c.3119A= (p.Glu1040=)
c.4586A= (p.Glu1529=)
c.4508A= (p.Glu1503=)
c.2600A= (p.Glu867=)
c.3623A= (p.Glu1208=)
c.3401A= (p.Glu1134=)
c.3386A= (p.Glu1129=)
n.4678A=
n.4663A=
n.4715A=
14g.45185272A>CCA389608185FANCMc.2783A>C (p.Glu928Ala)
c.349A>C
c.4364A>C (p.Glu1455Ala)
c.*3382A>C (n.*3382A>C)
n.307A>C
n.461A>C
c.4571A>C (p.Glu1524Ala)
c.*2596A>C (n.*2596A>C)
c.4415A>C (p.Glu1472Ala)
n.4519A>C
c.2569A>C
c.3502A>C
c.3403A>C
c.*327A>C (n.*327A>C)
c.3388A>C
n.1308A>C
c.4493A>C (p.Glu1498Ala)
c.1368A>C
n.404A>C
c.3119A>C (p.Glu1040Ala)
c.4586A>C (p.Glu1529Ala)
c.4508A>C (p.Glu1503Ala)
c.2600A>C (p.Glu867Ala)
c.3623A>C (p.Glu1208Ala)
c.3401A>C (p.Glu1134Ala)
c.3386A>C (p.Glu1129Ala)
n.4678A>C
n.4663A>C
n.4715A>C
14g.45185272A>GCA389608186FANCMc.2783A>G (p.Glu928Gly)
c.349A>G
c.4364A>G (p.Glu1455Gly)
c.*3382A>G (n.*3382A>G)
n.307A>G
n.461A>G
c.4571A>G (p.Glu1524Gly)
c.*2596A>G (n.*2596A>G)
c.4415A>G (p.Glu1472Gly)
n.4519A>G
c.2569A>G
c.3502A>G
c.3403A>G
c.*327A>G (n.*327A>G)
c.3388A>G
n.1308A>G
c.4493A>G (p.Glu1498Gly)
c.1368A>G
n.404A>G
c.3119A>G (p.Glu1040Gly)
c.4586A>G (p.Glu1529Gly)
c.4508A>G (p.Glu1503Gly)
c.2600A>G (p.Glu867Gly)
c.3623A>G (p.Glu1208Gly)
c.3401A>G (p.Glu1134Gly)
c.3386A>G (p.Glu1129Gly)
n.4678A>G
n.4663A>G
n.4715A>G
 dbSNP gnomAD v4
14g.45185272A>TCA389608187FANCMc.2783A>T (p.Glu928Val)
c.349A>T
c.4364A>T (p.Glu1455Val)
c.*3382A>T (n.*3382A>T)
n.307A>T
n.461A>T
c.4571A>T (p.Glu1524Val)
c.*2596A>T (n.*2596A>T)
c.4415A>T (p.Glu1472Val)
n.4519A>T
c.2569A>T
c.3502A>T
c.3403A>T
c.*327A>T (n.*327A>T)
c.3388A>T
n.1308A>T
c.4493A>T (p.Glu1498Val)
c.1368A>T
n.404A>T
c.3119A>T (p.Glu1040Val)
c.4586A>T (p.Glu1529Val)
c.4508A>T (p.Glu1503Val)
c.2600A>T (p.Glu867Val)
c.3623A>T (p.Glu1208Val)
c.3401A>T (p.Glu1134Val)
c.3386A>T (p.Glu1129Val)
n.4678A>T
n.4663A>T
n.4715A>T
14g.45185272_45185274delinsAATCA2133624497FANCMc.2783_2785delinsAAT (p.Glu928=)
c.349_351delinsAAT
c.4364_4366delinsAAT (p.Glu1455=)
c.*3382_*3384delinsAAT (n.*3382_*3384delinsAAT)
n.307_309delinsAAT
n.461_463delinsAAT
c.4571_4573delinsAAT (p.Glu1524=)
c.*2596_*2598delinsAAT (n.*2596_*2598delinsAAT)
c.4415_4417delinsAAT (p.Glu1472=)
n.4519_4521delinsAAT
c.2569_2571delinsAAT
c.3502_3504delinsAAT
c.3403_3405delinsAAT
c.*327_*329delinsAAT (n.*327_*329delinsAAT)
c.3388_3390delinsAAT
n.1308_1310delinsAAT
c.4493_4495delinsAAT (p.Glu1498=)
c.1368_1370delinsAAT
n.404_406delinsAAT
c.3119_3121delinsAAT (p.Glu1040=)
c.4586_4588delinsAAT (p.Glu1529=)
c.4508_4510delinsAAT (p.Glu1503=)
c.2600_2602delinsAAT (p.Glu867=)
c.3623_3625delinsAAT (p.Glu1208=)
c.3401_3403delinsAAT (p.Glu1134=)
c.3386_3388delinsAAT (p.Glu1129=)
n.4678_4680delinsAAT
n.4663_4665delinsAAT
n.4715_4717delinsAAT
14g.45185273A>CCA389608188FANCMc.2784A>C (p.Glu928Asp)
c.350A>C
c.4365A>C (p.Glu1455Asp)
c.*3383A>C (n.*3383A>C)
n.308A>C
n.462A>C
c.4572A>C (p.Glu1524Asp)
c.*2597A>C (n.*2597A>C)
c.4416A>C (p.Glu1472Asp)
n.4520A>C
c.2570A>C
c.3503A>C
c.3404A>C
c.*328A>C (n.*328A>C)
c.3389A>C
n.1309A>C
c.4494A>C (p.Glu1498Asp)
c.1369A>C
n.405A>C
c.3120A>C (p.Glu1040Asp)
c.4587A>C (p.Glu1529Asp)
c.4509A>C (p.Glu1503Asp)
c.2601A>C (p.Glu867Asp)
c.3624A>C (p.Glu1208Asp)
c.3402A>C (p.Glu1134Asp)
c.3387A>C (p.Glu1129Asp)
n.4679A>C
n.4664A>C
n.4716A>C
14g.45185273A>GCA486141361FANCMc.2784A>G (p.Glu928=)
c.350A>G
c.4365A>G (p.Glu1455=)
c.*3383A>G (n.*3383A>G)
n.308A>G
n.462A>G
c.4572A>G (p.Glu1524=)
c.*2597A>G (n.*2597A>G)
c.4416A>G (p.Glu1472=)
n.4520A>G
c.2570A>G
c.3503A>G
c.3404A>G
c.*328A>G (n.*328A>G)
c.3389A>G
n.1309A>G
c.4494A>G (p.Glu1498=)
c.1369A>G
n.405A>G
c.3120A>G (p.Glu1040=)
c.4587A>G (p.Glu1529=)
c.4509A>G (p.Glu1503=)
c.2601A>G (p.Glu867=)
c.3624A>G (p.Glu1208=)
c.3402A>G (p.Glu1134=)
c.3387A>G (p.Glu1129=)
n.4679A>G
n.4664A>G
n.4716A>G
 gnomAD v4
14g.45185273A>TCA389608189FANCMc.2784A>T (p.Glu928Asp)
c.350A>T
c.4365A>T (p.Glu1455Asp)
c.*3383A>T (n.*3383A>T)
n.308A>T
n.462A>T
c.4572A>T (p.Glu1524Asp)
c.*2597A>T (n.*2597A>T)
c.4416A>T (p.Glu1472Asp)
n.4520A>T
c.2570A>T
c.3503A>T
c.3404A>T
c.*328A>T (n.*328A>T)
c.3389A>T
n.1309A>T
c.4494A>T (p.Glu1498Asp)
c.1369A>T
n.405A>T
c.3120A>T (p.Glu1040Asp)
c.4587A>T (p.Glu1529Asp)
c.4509A>T (p.Glu1503Asp)
c.2601A>T (p.Glu867Asp)
c.3624A>T (p.Glu1208Asp)
c.3402A>T (p.Glu1134Asp)
c.3387A>T (p.Glu1129Asp)
n.4679A>T
n.4664A>T
n.4716A>T
14g.45185275_45185276delCA7169795FANCMc.2786_2787del (p.Tyr929CysfsTer5)
c.352_353del
c.4367_4368del (p.Tyr1456CysfsTer5)
c.*3385_*3386del (n.*3385_*3386del)
n.310_311del
n.464_465del
c.4574_4575del (p.Tyr1525CysfsTer5)
c.*2599_*2600del (n.*2599_*2600del)
c.4418_4419del (p.Tyr1473CysfsTer5)
n.4522_4523del
c.2572_2573del
c.3505_3506del
c.3406_3407del
c.*330_*331del (n.*330_*331del)
c.3391_3392del
n.1311_1312del
c.4496_4497del (p.Tyr1499CysfsTer5)
c.1371_1372del
n.407_408del
c.3122_3123del (p.Tyr1041CysfsTer5)
c.4589_4590del (p.Tyr1530CysfsTer5)
c.4511_4512del (p.Tyr1504CysfsTer5)
c.2603_2604del (p.Tyr868CysfsTer5)
c.3626_3627del (p.Tyr1209CysfsTer5)
c.3404_3405del (p.Tyr1135CysfsTer5)
c.3389_3390del (p.Tyr1130CysfsTer5)
n.4681_4682del
n.4666_4667del
n.4718_4719del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185274T>ACA389608191FANCMc.2785T>A (p.Tyr929Asn)
c.351T>A
c.4366T>A (p.Tyr1456Asn)
c.*3384T>A (n.*3384T>A)
n.309T>A
n.463T>A
c.4573T>A (p.Tyr1525Asn)
c.*2598T>A (n.*2598T>A)
c.4417T>A (p.Tyr1473Asn)
n.4521T>A
c.2571T>A
c.3504T>A
c.3405T>A
c.*329T>A (n.*329T>A)
c.3390T>A
n.1310T>A
c.4495T>A (p.Tyr1499Asn)
c.1370T>A
n.406T>A
c.3121T>A (p.Tyr1041Asn)
c.4588T>A (p.Tyr1530Asn)
c.4510T>A (p.Tyr1504Asn)
c.2602T>A (p.Tyr868Asn)
c.3625T>A (p.Tyr1209Asn)
c.3403T>A (p.Tyr1135Asn)
c.3388T>A (p.Tyr1130Asn)
n.4680T>A
n.4665T>A
n.4717T>A
14g.45185274T>CCA389608192FANCMc.2785T>C (p.Tyr929His)
c.351T>C
c.4366T>C (p.Tyr1456His)
c.*3384T>C (n.*3384T>C)
n.309T>C
n.463T>C
c.4573T>C (p.Tyr1525His)
c.*2598T>C (n.*2598T>C)
c.4417T>C (p.Tyr1473His)
n.4521T>C
c.2571T>C
c.3504T>C
c.3405T>C
c.*329T>C (n.*329T>C)
c.3390T>C
n.1310T>C
c.4495T>C (p.Tyr1499His)
c.1370T>C
n.406T>C
c.3121T>C (p.Tyr1041His)
c.4588T>C (p.Tyr1530His)
c.4510T>C (p.Tyr1504His)
c.2602T>C (p.Tyr868His)
c.3625T>C (p.Tyr1209His)
c.3403T>C (p.Tyr1135His)
c.3388T>C (p.Tyr1130His)
n.4680T>C
n.4665T>C
n.4717T>C
 ClinVar
14g.45185274T>GCA389608190FANCMc.2785T>G (p.Tyr929Asp)
c.351T>G
c.4366T>G (p.Tyr1456Asp)
c.*3384T>G (n.*3384T>G)
n.309T>G
n.463T>G
c.4573T>G (p.Tyr1525Asp)
c.*2598T>G (n.*2598T>G)
c.4417T>G (p.Tyr1473Asp)
n.4521T>G
c.2571T>G
c.3504T>G
c.3405T>G
c.*329T>G (n.*329T>G)
c.3390T>G
n.1310T>G
c.4495T>G (p.Tyr1499Asp)
c.1370T>G
n.406T>G
c.3121T>G (p.Tyr1041Asp)
c.4588T>G (p.Tyr1530Asp)
c.4510T>G (p.Tyr1504Asp)
c.2602T>G (p.Tyr868Asp)
c.3625T>G (p.Tyr1209Asp)
c.3403T>G (p.Tyr1135Asp)
c.3388T>G (p.Tyr1130Asp)
n.4680T>G
n.4665T>G
n.4717T>G
14g.45185275A=CA2133624500FANCMc.2786A= (p.Tyr929=)
c.352A=
c.4367A= (p.Tyr1456=)
c.*3385A= (n.*3385A=)
n.310A=
n.464A=
c.4574A= (p.Tyr1525=)
c.*2599A= (n.*2599A=)
c.4418A= (p.Tyr1473=)
n.4522A=
c.2572A=
c.3505A=
c.3406A=
c.*330A= (n.*330A=)
c.3391A=
n.1311A=
c.4496A= (p.Tyr1499=)
c.1371A=
n.407A=
c.3122A= (p.Tyr1041=)
c.4589A= (p.Tyr1530=)
c.4511A= (p.Tyr1504=)
c.2603A= (p.Tyr868=)
c.3626A= (p.Tyr1209=)
c.3404A= (p.Tyr1135=)
c.3389A= (p.Tyr1130=)
n.4681A=
n.4666A=
n.4718A=
14g.45185275A>CCA389608193FANCMc.2786A>C (p.Tyr929Ser)
c.352A>C
c.4367A>C (p.Tyr1456Ser)
c.*3385A>C (n.*3385A>C)
n.310A>C
n.464A>C
c.4574A>C (p.Tyr1525Ser)
c.*2599A>C (n.*2599A>C)
c.4418A>C (p.Tyr1473Ser)
n.4522A>C
c.2572A>C
c.3505A>C
c.3406A>C
c.*330A>C (n.*330A>C)
c.3391A>C
n.1311A>C
c.4496A>C (p.Tyr1499Ser)
c.1371A>C
n.407A>C
c.3122A>C (p.Tyr1041Ser)
c.4589A>C (p.Tyr1530Ser)
c.4511A>C (p.Tyr1504Ser)
c.2603A>C (p.Tyr868Ser)
c.3626A>C (p.Tyr1209Ser)
c.3404A>C (p.Tyr1135Ser)
c.3389A>C (p.Tyr1130Ser)
n.4681A>C
n.4666A>C
n.4718A>C
14g.45185275A>GCA7169796FANCMc.2786A>G (p.Tyr929Cys)
c.352A>G
c.4367A>G (p.Tyr1456Cys)
c.*3385A>G (n.*3385A>G)
n.310A>G
n.464A>G
c.4574A>G (p.Tyr1525Cys)
c.*2599A>G (n.*2599A>G)
c.4418A>G (p.Tyr1473Cys)
n.4522A>G
c.2572A>G
c.3505A>G
c.3406A>G
c.*330A>G (n.*330A>G)
c.3391A>G
n.1311A>G
c.4496A>G (p.Tyr1499Cys)
c.1371A>G
n.407A>G
c.3122A>G (p.Tyr1041Cys)
c.4589A>G (p.Tyr1530Cys)
c.4511A>G (p.Tyr1504Cys)
c.2603A>G (p.Tyr868Cys)
c.3626A>G (p.Tyr1209Cys)
c.3404A>G (p.Tyr1135Cys)
c.3389A>G (p.Tyr1130Cys)
n.4681A>G
n.4666A>G
n.4718A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185275A>TCA389608194FANCMc.2786A>T (p.Tyr929Phe)
c.352A>T
c.4367A>T (p.Tyr1456Phe)
c.*3385A>T (n.*3385A>T)
n.310A>T
n.464A>T
c.4574A>T (p.Tyr1525Phe)
c.*2599A>T (n.*2599A>T)
c.4418A>T (p.Tyr1473Phe)
n.4522A>T
c.2572A>T
c.3505A>T
c.3406A>T
c.*330A>T (n.*330A>T)
c.3391A>T
n.1311A>T
c.4496A>T (p.Tyr1499Phe)
c.1371A>T
n.407A>T
c.3122A>T (p.Tyr1041Phe)
c.4589A>T (p.Tyr1530Phe)
c.4511A>T (p.Tyr1504Phe)
c.2603A>T (p.Tyr868Phe)
c.3626A>T (p.Tyr1209Phe)
c.3404A>T (p.Tyr1135Phe)
c.3389A>T (p.Tyr1130Phe)
n.4681A>T
n.4666A>T
n.4718A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.45185276T>ACA389608195FANCMc.2787T>A (p.Tyr929Ter)
c.353T>A
c.4368T>A (p.Tyr1456Ter)
c.*3386T>A (n.*3386T>A)
n.311T>A
n.465T>A
c.4575T>A (p.Tyr1525Ter)
c.*2600T>A (n.*2600T>A)
c.4419T>A (p.Tyr1473Ter)
n.4523T>A
c.2573T>A
c.3506T>A
c.3407T>A
c.*331T>A (n.*331T>A)
c.3392T>A
n.1312T>A
c.4497T>A (p.Tyr1499Ter)
c.1372T>A
n.408T>A
c.3123T>A (p.Tyr1041Ter)
c.4590T>A (p.Tyr1530Ter)
c.4512T>A (p.Tyr1504Ter)
c.2604T>A (p.Tyr868Ter)
c.3627T>A (p.Tyr1209Ter)
c.3405T>A (p.Tyr1135Ter)
c.3390T>A (p.Tyr1130Ter)
n.4682T>A
n.4667T>A
n.4719T>A
14g.45185276T>CCA7169797FANCMc.2787T>C (p.Tyr929=)
c.353T>C
c.4368T>C (p.Tyr1456=)
c.*3386T>C (n.*3386T>C)
n.311T>C
n.465T>C
c.4575T>C (p.Tyr1525=)
c.*2600T>C (n.*2600T>C)
c.4419T>C (p.Tyr1473=)
n.4523T>C
c.2573T>C
c.3506T>C
c.3407T>C
c.*331T>C (n.*331T>C)
c.3392T>C
n.1312T>C
c.4497T>C (p.Tyr1499=)
c.1372T>C
n.408T>C
c.3123T>C (p.Tyr1041=)
c.4590T>C (p.Tyr1530=)
c.4512T>C (p.Tyr1504=)
c.2604T>C (p.Tyr868=)
c.3627T>C (p.Tyr1209=)
c.3405T>C (p.Tyr1135=)
c.3390T>C (p.Tyr1130=)
n.4682T>C
n.4667T>C
n.4719T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185276T>GCA389608196FANCMc.2787T>G (p.Tyr929Ter)
c.353T>G
c.4368T>G (p.Tyr1456Ter)
c.*3386T>G (n.*3386T>G)
n.311T>G
n.465T>G
c.4575T>G (p.Tyr1525Ter)
c.*2600T>G (n.*2600T>G)
c.4419T>G (p.Tyr1473Ter)
n.4523T>G
c.2573T>G
c.3506T>G
c.3407T>G
c.*331T>G (n.*331T>G)
c.3392T>G
n.1312T>G
c.4497T>G (p.Tyr1499Ter)
c.1372T>G
n.408T>G
c.3123T>G (p.Tyr1041Ter)
c.4590T>G (p.Tyr1530Ter)
c.4512T>G (p.Tyr1504Ter)
c.2604T>G (p.Tyr868Ter)
c.3627T>G (p.Tyr1209Ter)
c.3405T>G (p.Tyr1135Ter)
c.3390T>G (p.Tyr1130Ter)
n.4682T>G
n.4667T>G
n.4719T>G
14g.45185276T=CA2133624503FANCMc.2787T= (p.Tyr929=)
c.353T=
c.4368T= (p.Tyr1456=)
c.*3386T= (n.*3386T=)
n.311T=
n.465T=
c.4575T= (p.Tyr1525=)
c.*2600T= (n.*2600T=)
c.4419T= (p.Tyr1473=)
n.4523T=
c.2573T=
c.3506T=
c.3407T=
c.*331T= (n.*331T=)
c.3392T=
n.1312T=
c.4497T= (p.Tyr1499=)
c.1372T=
n.408T=
c.3123T= (p.Tyr1041=)
c.4590T= (p.Tyr1530=)
c.4512T= (p.Tyr1504=)
c.2604T= (p.Tyr868=)
c.3627T= (p.Tyr1209=)
c.3405T= (p.Tyr1135=)
c.3390T= (p.Tyr1130=)
n.4682T=
n.4667T=
n.4719T=
14g.45185277G>ACA259634566FANCMc.2788G>A (p.Val930Ile)
c.354G>A
c.4369G>A (p.Val1457Ile)
c.*3387G>A (n.*3387G>A)
n.312G>A
n.466G>A
c.4576G>A (p.Val1526Ile)
c.*2601G>A (n.*2601G>A)
c.4420G>A (p.Val1474Ile)
n.4524G>A
c.2574G>A
c.3507G>A
c.3408G>A
c.*332G>A (n.*332G>A)
c.3393G>A
n.1313G>A
c.4498G>A (p.Val1500Ile)
c.1373G>A
n.409G>A
c.3124G>A (p.Val1042Ile)
c.4591G>A (p.Val1531Ile)
c.4513G>A (p.Val1505Ile)
c.2605G>A (p.Val869Ile)
c.3628G>A (p.Val1210Ile)
c.3406G>A (p.Val1136Ile)
c.3391G>A (p.Val1131Ile)
n.4683G>A
n.4668G>A
n.4720G>A
 ClinVar dbSNP gnomAD v4
14g.45185277G>CCA389608198FANCMc.2788G>C (p.Val930Leu)
c.354G>C
c.4369G>C (p.Val1457Leu)
c.*3387G>C (n.*3387G>C)
n.312G>C
n.466G>C
c.4576G>C (p.Val1526Leu)
c.*2601G>C (n.*2601G>C)
c.4420G>C (p.Val1474Leu)
n.4524G>C
c.2574G>C
c.3507G>C
c.3408G>C
c.*332G>C (n.*332G>C)
c.3393G>C
n.1313G>C
c.4498G>C (p.Val1500Leu)
c.1373G>C
n.409G>C
c.3124G>C (p.Val1042Leu)
c.4591G>C (p.Val1531Leu)
c.4513G>C (p.Val1505Leu)
c.2605G>C (p.Val869Leu)
c.3628G>C (p.Val1210Leu)
c.3406G>C (p.Val1136Leu)
c.3391G>C (p.Val1131Leu)
n.4683G>C
n.4668G>C
n.4720G>C
14g.45185277G=CA2133624505FANCMc.2788G= (p.Val930=)
c.354G=
c.4369G= (p.Val1457=)
c.*3387G= (n.*3387G=)
n.312G=
n.466G=
c.4576G= (p.Val1526=)
c.*2601G= (n.*2601G=)
c.4420G= (p.Val1474=)
n.4524G=
c.2574G=
c.3507G=
c.3408G=
c.*332G= (n.*332G=)
c.3393G=
n.1313G=
c.4498G= (p.Val1500=)
c.1373G=
n.409G=
c.3124G= (p.Val1042=)
c.4591G= (p.Val1531=)
c.4513G= (p.Val1505=)
c.2605G= (p.Val869=)
c.3628G= (p.Val1210=)
c.3406G= (p.Val1136=)
c.3391G= (p.Val1131=)
n.4683G=
n.4668G=
n.4720G=
14g.45185277G>TCA389608197FANCMc.2788G>T (p.Val930Phe)
c.354G>T
c.4369G>T (p.Val1457Phe)
c.*3387G>T (n.*3387G>T)
n.312G>T
n.466G>T
c.4576G>T (p.Val1526Phe)
c.*2601G>T (n.*2601G>T)
c.4420G>T (p.Val1474Phe)
n.4524G>T
c.2574G>T
c.3507G>T
c.3408G>T
c.*332G>T (n.*332G>T)
c.3393G>T
n.1313G>T
c.4498G>T (p.Val1500Phe)
c.1373G>T
n.409G>T
c.3124G>T (p.Val1042Phe)
c.4591G>T (p.Val1531Phe)
c.4513G>T (p.Val1505Phe)
c.2605G>T (p.Val869Phe)
c.3628G>T (p.Val1210Phe)
c.3406G>T (p.Val1136Phe)
c.3391G>T (p.Val1131Phe)
n.4683G>T
n.4668G>T
n.4720G>T
14g.45185278T>ACA389608199FANCMc.2789T>A (p.Val930Asp)
c.355T>A
c.4370T>A (p.Val1457Asp)
c.*3388T>A (n.*3388T>A)
n.313T>A
n.467T>A
c.4577T>A (p.Val1526Asp)
c.*2602T>A (n.*2602T>A)
c.4421T>A (p.Val1474Asp)
n.4525T>A
c.2575T>A
c.3508T>A
c.3409T>A
c.*333T>A (n.*333T>A)
c.3394T>A
n.1314T>A
c.4499T>A (p.Val1500Asp)
c.1374T>A
n.410T>A
c.3125T>A (p.Val1042Asp)
c.4592T>A (p.Val1531Asp)
c.4514T>A (p.Val1505Asp)
c.2606T>A (p.Val869Asp)
c.3629T>A (p.Val1210Asp)
c.3407T>A (p.Val1136Asp)
c.3392T>A (p.Val1131Asp)
n.4684T>A
n.4669T>A
n.4721T>A
14g.45185278T>CCA389608200FANCMc.2789T>C (p.Val930Ala)
c.355T>C
c.4370T>C (p.Val1457Ala)
c.*3388T>C (n.*3388T>C)
n.313T>C
n.467T>C
c.4577T>C (p.Val1526Ala)
c.*2602T>C (n.*2602T>C)
c.4421T>C (p.Val1474Ala)
n.4525T>C
c.2575T>C
c.3508T>C
c.3409T>C
c.*333T>C (n.*333T>C)
c.3394T>C
n.1314T>C
c.4499T>C (p.Val1500Ala)
c.1374T>C
n.410T>C
c.3125T>C (p.Val1042Ala)
c.4592T>C (p.Val1531Ala)
c.4514T>C (p.Val1505Ala)
c.2606T>C (p.Val869Ala)
c.3629T>C (p.Val1210Ala)
c.3407T>C (p.Val1136Ala)
c.3392T>C (p.Val1131Ala)
n.4684T>C
n.4669T>C
n.4721T>C
 gnomAD v4
14g.45185278T>GCA389608201FANCMc.2789T>G (p.Val930Gly)
c.355T>G
c.4370T>G (p.Val1457Gly)
c.*3388T>G (n.*3388T>G)
n.313T>G
n.467T>G
c.4577T>G (p.Val1526Gly)
c.*2602T>G (n.*2602T>G)
c.4421T>G (p.Val1474Gly)
n.4525T>G
c.2575T>G
c.3508T>G
c.3409T>G
c.*333T>G (n.*333T>G)
c.3394T>G
n.1314T>G
c.4499T>G (p.Val1500Gly)
c.1374T>G
n.410T>G
c.3125T>G (p.Val1042Gly)
c.4592T>G (p.Val1531Gly)
c.4514T>G (p.Val1505Gly)
c.2606T>G (p.Val869Gly)
c.3629T>G (p.Val1210Gly)
c.3407T>G (p.Val1136Gly)
c.3392T>G (p.Val1131Gly)
n.4684T>G
n.4669T>G
n.4721T>G
14g.45185280delCA2624699561FANCMc.2791del (p.Ser931HisfsTer20)
c.357del
c.4372del (p.Ser1458HisfsTer20)
c.*3390del (n.*3390del)
n.315del
n.469del
c.4579del (p.Ser1527HisfsTer20)
c.*2604del (n.*2604del)
c.4423del (p.Ser1475HisfsTer20)
n.4527del
c.2577del
c.3510del
c.3411del
c.*335del (n.*335del)
c.3396del
n.1316del
c.4501del (p.Ser1501HisfsTer20)
c.1376del
n.412del
c.3127del (p.Ser1043HisfsTer20)
c.4594del (p.Ser1532HisfsTer20)
c.4516del (p.Ser1506HisfsTer20)
c.2608del (p.Ser870HisfsTer20)
c.3631del (p.Ser1211HisfsTer20)
c.3409del (p.Ser1137HisfsTer20)
c.3394del (p.Ser1132HisfsTer20)
n.4686del
n.4671del
n.4723del
 gnomAD v4
14g.45185279T>ACA486141362FANCMc.2790T>A (p.Val930=)
c.356T>A
c.4371T>A (p.Val1457=)
c.*3389T>A (n.*3389T>A)
n.314T>A
n.468T>A
c.4578T>A (p.Val1526=)
c.*2603T>A (n.*2603T>A)
c.4422T>A (p.Val1474=)
n.4526T>A
c.2576T>A
c.3509T>A
c.3410T>A
c.*334T>A (n.*334T>A)
c.3395T>A
n.1315T>A
c.4500T>A (p.Val1500=)
c.1375T>A
n.411T>A
c.3126T>A (p.Val1042=)
c.4593T>A (p.Val1531=)
c.4515T>A (p.Val1505=)
c.2607T>A (p.Val869=)
c.3630T>A (p.Val1210=)
c.3408T>A (p.Val1136=)
c.3393T>A (p.Val1131=)
n.4685T>A
n.4670T>A
n.4722T>A
14g.45185279T>CCA486141363FANCMc.2790T>C (p.Val930=)
c.356T>C
c.4371T>C (p.Val1457=)
c.*3389T>C (n.*3389T>C)
n.314T>C
n.468T>C
c.4578T>C (p.Val1526=)
c.*2603T>C (n.*2603T>C)
c.4422T>C (p.Val1474=)
n.4526T>C
c.2576T>C
c.3509T>C
c.3410T>C
c.*334T>C (n.*334T>C)
c.3395T>C
n.1315T>C
c.4500T>C (p.Val1500=)
c.1375T>C
n.411T>C
c.3126T>C (p.Val1042=)
c.4593T>C (p.Val1531=)
c.4515T>C (p.Val1505=)
c.2607T>C (p.Val869=)
c.3630T>C (p.Val1210=)
c.3408T>C (p.Val1136=)
c.3393T>C (p.Val1131=)
n.4685T>C
n.4670T>C
n.4722T>C
14g.45185279T>GCA7169798FANCMc.2790T>G (p.Val930=)
c.356T>G
c.4371T>G (p.Val1457=)
c.*3389T>G (n.*3389T>G)
n.314T>G
n.468T>G
c.4578T>G (p.Val1526=)
c.*2603T>G (n.*2603T>G)
c.4422T>G (p.Val1474=)
n.4526T>G
c.2576T>G
c.3509T>G
c.3410T>G
c.*334T>G (n.*334T>G)
c.3395T>G
n.1315T>G
c.4500T>G (p.Val1500=)
c.1375T>G
n.411T>G
c.3126T>G (p.Val1042=)
c.4593T>G (p.Val1531=)
c.4515T>G (p.Val1505=)
c.2607T>G (p.Val869=)
c.3630T>G (p.Val1210=)
c.3408T>G (p.Val1136=)
c.3393T>G (p.Val1131=)
n.4685T>G
n.4670T>G
n.4722T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185279T=CA2133624506FANCMc.2790T= (p.Val930=)
c.356T=
c.4371T= (p.Val1457=)
c.*3389T= (n.*3389T=)
n.314T=
n.468T=
c.4578T= (p.Val1526=)
c.*2603T= (n.*2603T=)
c.4422T= (p.Val1474=)
n.4526T=
c.2576T=
c.3509T=
c.3410T=
c.*334T= (n.*334T=)
c.3395T=
n.1315T=
c.4500T= (p.Val1500=)
c.1375T=
n.411T=
c.3126T= (p.Val1042=)
c.4593T= (p.Val1531=)
c.4515T= (p.Val1505=)
c.2607T= (p.Val869=)
c.3630T= (p.Val1210=)
c.3408T= (p.Val1136=)
c.3393T= (p.Val1131=)
n.4685T=
n.4670T=
n.4722T=
14g.45185280T>ACA389608202FANCMc.2791T>A (p.Ser931Thr)
c.357T>A
c.4372T>A (p.Ser1458Thr)
c.*3390T>A (n.*3390T>A)
n.315T>A
n.469T>A
c.4579T>A (p.Ser1527Thr)
c.*2604T>A (n.*2604T>A)
c.4423T>A (p.Ser1475Thr)
n.4527T>A
c.2577T>A
c.3510T>A
c.3411T>A
c.*335T>A (n.*335T>A)
c.3396T>A
n.1316T>A
c.4501T>A (p.Ser1501Thr)
c.1376T>A
n.412T>A
c.3127T>A (p.Ser1043Thr)
c.4594T>A (p.Ser1532Thr)
c.4516T>A (p.Ser1506Thr)
c.2608T>A (p.Ser870Thr)
c.3631T>A (p.Ser1211Thr)
c.3409T>A (p.Ser1137Thr)
c.3394T>A (p.Ser1132Thr)
n.4686T>A
n.4671T>A
n.4723T>A
14g.45185280T>CCA389608204FANCMc.2791T>C (p.Ser931Pro)
c.357T>C
c.4372T>C (p.Ser1458Pro)
c.*3390T>C (n.*3390T>C)
n.315T>C
n.469T>C
c.4579T>C (p.Ser1527Pro)
c.*2604T>C (n.*2604T>C)
c.4423T>C (p.Ser1475Pro)
n.4527T>C
c.2577T>C
c.3510T>C
c.3411T>C
c.*335T>C (n.*335T>C)
c.3396T>C
n.1316T>C
c.4501T>C (p.Ser1501Pro)
c.1376T>C
n.412T>C
c.3127T>C (p.Ser1043Pro)
c.4594T>C (p.Ser1532Pro)
c.4516T>C (p.Ser1506Pro)
c.2608T>C (p.Ser870Pro)
c.3631T>C (p.Ser1211Pro)
c.3409T>C (p.Ser1137Pro)
c.3394T>C (p.Ser1132Pro)
n.4686T>C
n.4671T>C
n.4723T>C
14g.45185280T>GCA389608203FANCMc.2791T>G (p.Ser931Ala)
c.357T>G
c.4372T>G (p.Ser1458Ala)
c.*3390T>G (n.*3390T>G)
n.315T>G
n.469T>G
c.4579T>G (p.Ser1527Ala)
c.*2604T>G (n.*2604T>G)
c.4423T>G (p.Ser1475Ala)
n.4527T>G
c.2577T>G
c.3510T>G
c.3411T>G
c.*335T>G (n.*335T>G)
c.3396T>G
n.1316T>G
c.4501T>G (p.Ser1501Ala)
c.1376T>G
n.412T>G
c.3127T>G (p.Ser1043Ala)
c.4594T>G (p.Ser1532Ala)
c.4516T>G (p.Ser1506Ala)
c.2608T>G (p.Ser870Ala)
c.3631T>G (p.Ser1211Ala)
c.3409T>G (p.Ser1137Ala)
c.3394T>G (p.Ser1132Ala)
n.4686T>G
n.4671T>G
n.4723T>G
14g.45185281C>ACA7169799FANCMc.2792C>A (p.Ser931Ter)
c.358C>A
c.4373C>A (p.Ser1458Ter)
c.*3391C>A (n.*3391C>A)
n.316C>A
n.470C>A
c.4580C>A (p.Ser1527Ter)
c.*2605C>A (n.*2605C>A)
c.4424C>A (p.Ser1475Ter)
n.4528C>A
c.2578C>A
c.3511C>A
c.3412C>A
c.*336C>A (n.*336C>A)
c.3397C>A
n.1317C>A
c.4502C>A (p.Ser1501Ter)
c.1377C>A
n.413C>A
c.3128C>A (p.Ser1043Ter)
c.4595C>A (p.Ser1532Ter)
c.4517C>A (p.Ser1506Ter)
c.2609C>A (p.Ser870Ter)
c.3632C>A (p.Ser1211Ter)
c.3410C>A (p.Ser1137Ter)
c.3395C>A (p.Ser1132Ter)
n.4687C>A
n.4672C>A
n.4724C>A
 dbSNP ExAC gnomAD v2
14g.45185281C=CA2133624509FANCMc.2792C= (p.Ser931=)
c.358C=
c.4373C= (p.Ser1458=)
c.*3391C= (n.*3391C=)
n.316C=
n.470C=
c.4580C= (p.Ser1527=)
c.*2605C= (n.*2605C=)
c.4424C= (p.Ser1475=)
n.4528C=
c.2578C=
c.3511C=
c.3412C=
c.*336C= (n.*336C=)
c.3397C=
n.1317C=
c.4502C= (p.Ser1501=)
c.1377C=
n.413C=
c.3128C= (p.Ser1043=)
c.4595C= (p.Ser1532=)
c.4517C= (p.Ser1506=)
c.2609C= (p.Ser870=)
c.3632C= (p.Ser1211=)
c.3410C= (p.Ser1137=)
c.3395C= (p.Ser1132=)
n.4687C=
n.4672C=
n.4724C=
14g.45185281C>GCA389608206FANCMc.2792C>G (p.Ser931Ter)
c.358C>G
c.4373C>G (p.Ser1458Ter)
c.*3391C>G (n.*3391C>G)
n.316C>G
n.470C>G
c.4580C>G (p.Ser1527Ter)
c.*2605C>G (n.*2605C>G)
c.4424C>G (p.Ser1475Ter)
n.4528C>G
c.2578C>G
c.3511C>G
c.3412C>G
c.*336C>G (n.*336C>G)
c.3397C>G
n.1317C>G
c.4502C>G (p.Ser1501Ter)
c.1377C>G
n.413C>G
c.3128C>G (p.Ser1043Ter)
c.4595C>G (p.Ser1532Ter)
c.4517C>G (p.Ser1506Ter)
c.2609C>G (p.Ser870Ter)
c.3632C>G (p.Ser1211Ter)
c.3410C>G (p.Ser1137Ter)
c.3395C>G (p.Ser1132Ter)
n.4687C>G
n.4672C>G
n.4724C>G
14g.45185281C>TCA389608205FANCMc.2792C>T (p.Ser931Leu)
c.358C>T
c.4373C>T (p.Ser1458Leu)
c.*3391C>T (n.*3391C>T)
n.316C>T
n.470C>T
c.4580C>T (p.Ser1527Leu)
c.*2605C>T (n.*2605C>T)
c.4424C>T (p.Ser1475Leu)
n.4528C>T
c.2578C>T
c.3511C>T
c.3412C>T
c.*336C>T (n.*336C>T)
c.3397C>T
n.1317C>T
c.4502C>T (p.Ser1501Leu)
c.1377C>T
n.413C>T
c.3128C>T (p.Ser1043Leu)
c.4595C>T (p.Ser1532Leu)
c.4517C>T (p.Ser1506Leu)
c.2609C>T (p.Ser870Leu)
c.3632C>T (p.Ser1211Leu)
c.3410C>T (p.Ser1137Leu)
c.3395C>T (p.Ser1132Leu)
n.4687C>T
n.4672C>T
n.4724C>T
14g.45185282A=CA2133624510FANCMc.2793A= (p.Ser931=)
c.359A=
c.4374A= (p.Ser1458=)
c.*3392A= (n.*3392A=)
n.317A=
n.471A=
c.4581A= (p.Ser1527=)
c.*2606A= (n.*2606A=)
c.4425A= (p.Ser1475=)
n.4529A=
c.2579A=
c.3512A=
c.3413A=
c.*337A= (n.*337A=)
c.3398A=
n.1318A=
c.4503A= (p.Ser1501=)
c.1378A=
n.414A=
c.3129A= (p.Ser1043=)
c.4596A= (p.Ser1532=)
c.4518A= (p.Ser1506=)
c.2610A= (p.Ser870=)
c.3633A= (p.Ser1211=)
c.3411A= (p.Ser1137=)
c.3396A= (p.Ser1132=)
n.4688A=
n.4673A=
n.4725A=
14g.45185282A>CCA486141364FANCMc.2793A>C (p.Ser931=)
c.359A>C
c.4374A>C (p.Ser1458=)
c.*3392A>C (n.*3392A>C)
n.317A>C
n.471A>C
c.4581A>C (p.Ser1527=)
c.*2606A>C (n.*2606A>C)
c.4425A>C (p.Ser1475=)
n.4529A>C
c.2579A>C
c.3512A>C
c.3413A>C
c.*337A>C (n.*337A>C)
c.3398A>C
n.1318A>C
c.4503A>C (p.Ser1501=)
c.1378A>C
n.414A>C
c.3129A>C (p.Ser1043=)
c.4596A>C (p.Ser1532=)
c.4518A>C (p.Ser1506=)
c.2610A>C (p.Ser870=)
c.3633A>C (p.Ser1211=)
c.3411A>C (p.Ser1137=)
c.3396A>C (p.Ser1132=)
n.4688A>C
n.4673A>C
n.4725A>C
14g.45185282A>GCA486141365FANCMc.2793A>G (p.Ser931=)
c.359A>G
c.4374A>G (p.Ser1458=)
c.*3392A>G (n.*3392A>G)
n.317A>G
n.471A>G
c.4581A>G (p.Ser1527=)
c.*2606A>G (n.*2606A>G)
c.4425A>G (p.Ser1475=)
n.4529A>G
c.2579A>G
c.3512A>G
c.3413A>G
c.*337A>G (n.*337A>G)
c.3398A>G
n.1318A>G
c.4503A>G (p.Ser1501=)
c.1378A>G
n.414A>G
c.3129A>G (p.Ser1043=)
c.4596A>G (p.Ser1532=)
c.4518A>G (p.Ser1506=)
c.2610A>G (p.Ser870=)
c.3633A>G (p.Ser1211=)
c.3411A>G (p.Ser1137=)
c.3396A>G (p.Ser1132=)
n.4688A>G
n.4673A>G
n.4725A>G
 dbSNP gnomAD v2 gnomAD v4
14g.45185282A>TCA486141366FANCMc.2793A>T (p.Ser931=)
c.359A>T
c.4374A>T (p.Ser1458=)
c.*3392A>T (n.*3392A>T)
n.317A>T
n.471A>T
c.4581A>T (p.Ser1527=)
c.*2606A>T (n.*2606A>T)
c.4425A>T (p.Ser1475=)
n.4529A>T
c.2579A>T
c.3512A>T
c.3413A>T
c.*337A>T (n.*337A>T)
c.3398A>T
n.1318A>T
c.4503A>T (p.Ser1501=)
c.1378A>T
n.414A>T
c.3129A>T (p.Ser1043=)
c.4596A>T (p.Ser1532=)
c.4518A>T (p.Ser1506=)
c.2610A>T (p.Ser870=)
c.3633A>T (p.Ser1211=)
c.3411A>T (p.Ser1137=)
c.3396A>T (p.Ser1132=)
n.4688A>T
n.4673A>T
n.4725A>T
14g.45185283T>ACA389608207FANCMc.2794T>A (p.Ser932Thr)
c.360T>A
c.4375T>A (p.Ser1459Thr)
c.*3393T>A (n.*3393T>A)
n.318T>A
n.472T>A
c.4582T>A (p.Ser1528Thr)
c.*2607T>A (n.*2607T>A)
c.4426T>A (p.Ser1476Thr)
n.4530T>A
c.2580T>A
c.3513T>A
c.3414T>A
c.*338T>A (n.*338T>A)
c.3399T>A
n.1319T>A
c.4504T>A (p.Ser1502Thr)
c.1379T>A
n.415T>A
c.3130T>A (p.Ser1044Thr)
c.4597T>A (p.Ser1533Thr)
c.4519T>A (p.Ser1507Thr)
c.2611T>A (p.Ser871Thr)
c.3634T>A (p.Ser1212Thr)
c.3412T>A (p.Ser1138Thr)
c.3397T>A (p.Ser1133Thr)
n.4689T>A
n.4674T>A
n.4726T>A
14g.45185283T>CCA389608208FANCMc.2794T>C (p.Ser932Pro)
c.360T>C
c.4375T>C (p.Ser1459Pro)
c.*3393T>C (n.*3393T>C)
n.318T>C
n.472T>C
c.4582T>C (p.Ser1528Pro)
c.*2607T>C (n.*2607T>C)
c.4426T>C (p.Ser1476Pro)
n.4530T>C
c.2580T>C
c.3513T>C
c.3414T>C
c.*338T>C (n.*338T>C)
c.3399T>C
n.1319T>C
c.4504T>C (p.Ser1502Pro)
c.1379T>C
n.415T>C
c.3130T>C (p.Ser1044Pro)
c.4597T>C (p.Ser1533Pro)
c.4519T>C (p.Ser1507Pro)
c.2611T>C (p.Ser871Pro)
c.3634T>C (p.Ser1212Pro)
c.3412T>C (p.Ser1138Pro)
c.3397T>C (p.Ser1133Pro)
n.4689T>C
n.4674T>C
n.4726T>C
 gnomAD v4
14g.45185283T>GCA389608209FANCMc.2794T>G (p.Ser932Ala)
c.360T>G
c.4375T>G (p.Ser1459Ala)
c.*3393T>G (n.*3393T>G)
n.318T>G
n.472T>G
c.4582T>G (p.Ser1528Ala)
c.*2607T>G (n.*2607T>G)
c.4426T>G (p.Ser1476Ala)
n.4530T>G
c.2580T>G
c.3513T>G
c.3414T>G
c.*338T>G (n.*338T>G)
c.3399T>G
n.1319T>G
c.4504T>G (p.Ser1502Ala)
c.1379T>G
n.415T>G
c.3130T>G (p.Ser1044Ala)
c.4597T>G (p.Ser1533Ala)
c.4519T>G (p.Ser1507Ala)
c.2611T>G (p.Ser871Ala)
c.3634T>G (p.Ser1212Ala)
c.3412T>G (p.Ser1138Ala)
c.3397T>G (p.Ser1133Ala)
n.4689T>G
n.4674T>G
n.4726T>G
 ClinVar dbSNP
14g.45185283T=CA2133624512FANCMc.2794T= (p.Ser932=)
c.360T=
c.4375T= (p.Ser1459=)
c.*3393T= (n.*3393T=)
n.318T=
n.472T=
c.4582T= (p.Ser1528=)
c.*2607T= (n.*2607T=)
c.4426T= (p.Ser1476=)
n.4530T=
c.2580T=
c.3513T=
c.3414T=
c.*338T= (n.*338T=)
c.3399T=
n.1319T=
c.4504T= (p.Ser1502=)
c.1379T=
n.415T=
c.3130T= (p.Ser1044=)
c.4597T= (p.Ser1533=)
c.4519T= (p.Ser1507=)
c.2611T= (p.Ser871=)
c.3634T= (p.Ser1212=)
c.3412T= (p.Ser1138=)
c.3397T= (p.Ser1133=)
n.4689T=
n.4674T=
n.4726T=
14g.45185284C>ACA389608210FANCMc.2795C>A (p.Ser932Ter)
c.361C>A
c.4376C>A (p.Ser1459Ter)
c.*3394C>A (n.*3394C>A)
n.319C>A
n.473C>A
c.4583C>A (p.Ser1528Ter)
c.*2608C>A (n.*2608C>A)
c.4427C>A (p.Ser1476Ter)
n.4531C>A
c.2581C>A
c.3514C>A
c.3415C>A
c.*339C>A (n.*339C>A)
c.3400C>A
n.1320C>A
c.4505C>A (p.Ser1502Ter)
c.1380C>A
n.416C>A
c.3131C>A (p.Ser1044Ter)
c.4598C>A (p.Ser1533Ter)
c.4520C>A (p.Ser1507Ter)
c.2612C>A (p.Ser871Ter)
c.3635C>A (p.Ser1212Ter)
c.3413C>A (p.Ser1138Ter)
c.3398C>A (p.Ser1133Ter)
n.4690C>A
n.4675C>A
n.4727C>A
 gnomAD v4
14g.45185284C>GCA389608211FANCMc.2795C>G (p.Ser932Ter)
c.361C>G
c.4376C>G (p.Ser1459Ter)
c.*3394C>G (n.*3394C>G)
n.319C>G
n.473C>G
c.4583C>G (p.Ser1528Ter)
c.*2608C>G (n.*2608C>G)
c.4427C>G (p.Ser1476Ter)
n.4531C>G
c.2581C>G
c.3514C>G
c.3415C>G
c.*339C>G (n.*339C>G)
c.3400C>G
n.1320C>G
c.4505C>G (p.Ser1502Ter)
c.1380C>G
n.416C>G
c.3131C>G (p.Ser1044Ter)
c.4598C>G (p.Ser1533Ter)
c.4520C>G (p.Ser1507Ter)
c.2612C>G (p.Ser871Ter)
c.3635C>G (p.Ser1212Ter)
c.3413C>G (p.Ser1138Ter)
c.3398C>G (p.Ser1133Ter)
n.4690C>G
n.4675C>G
n.4727C>G
14g.45185284C>TCA389608212FANCMc.2795C>T (p.Ser932Leu)
c.361C>T
c.4376C>T (p.Ser1459Leu)
c.*3394C>T (n.*3394C>T)
n.319C>T
n.473C>T
c.4583C>T (p.Ser1528Leu)
c.*2608C>T (n.*2608C>T)
c.4427C>T (p.Ser1476Leu)
n.4531C>T
c.2581C>T
c.3514C>T
c.3415C>T
c.*339C>T (n.*339C>T)
c.3400C>T
n.1320C>T
c.4505C>T (p.Ser1502Leu)
c.1380C>T
n.416C>T
c.3131C>T (p.Ser1044Leu)
c.4598C>T (p.Ser1533Leu)
c.4520C>T (p.Ser1507Leu)
c.2612C>T (p.Ser871Leu)
c.3635C>T (p.Ser1212Leu)
c.3413C>T (p.Ser1138Leu)
c.3398C>T (p.Ser1133Leu)
n.4690C>T
n.4675C>T
n.4727C>T
 COSMIC
14g.45185285A>CCA486141368FANCMc.2796A>C (p.Ser932=)
c.362A>C
c.4377A>C (p.Ser1459=)
c.*3395A>C (n.*3395A>C)
n.320A>C
n.474A>C
c.4584A>C (p.Ser1528=)
c.*2609A>C (n.*2609A>C)
c.4428A>C (p.Ser1476=)
n.4532A>C
c.2582A>C
c.3515A>C
c.3416A>C
c.*340A>C (n.*340A>C)
c.3401A>C
n.1321A>C
c.4506A>C (p.Ser1502=)
c.1381A>C
n.417A>C
c.3132A>C (p.Ser1044=)
c.4599A>C (p.Ser1533=)
c.4521A>C (p.Ser1507=)
c.2613A>C (p.Ser871=)
c.3636A>C (p.Ser1212=)
c.3414A>C (p.Ser1138=)
c.3399A>C (p.Ser1133=)
n.4691A>C
n.4676A>C
n.4728A>C
 gnomAD v4
14g.45185285A>GCA486141369FANCMc.2796A>G (p.Ser932=)
c.362A>G
c.4377A>G (p.Ser1459=)
c.*3395A>G (n.*3395A>G)
n.320A>G
n.474A>G
c.4584A>G (p.Ser1528=)
c.*2609A>G (n.*2609A>G)
c.4428A>G (p.Ser1476=)
n.4532A>G
c.2582A>G
c.3515A>G
c.3416A>G
c.*340A>G (n.*340A>G)
c.3401A>G
n.1321A>G
c.4506A>G (p.Ser1502=)
c.1381A>G
n.417A>G
c.3132A>G (p.Ser1044=)
c.4599A>G (p.Ser1533=)
c.4521A>G (p.Ser1507=)
c.2613A>G (p.Ser871=)
c.3636A>G (p.Ser1212=)
c.3414A>G (p.Ser1138=)
c.3399A>G (p.Ser1133=)
n.4691A>G
n.4676A>G
n.4728A>G
14g.45185285A>TCA486141370FANCMc.2796A>T (p.Ser932=)
c.362A>T
c.4377A>T (p.Ser1459=)
c.*3395A>T (n.*3395A>T)
n.320A>T
n.474A>T
c.4584A>T (p.Ser1528=)
c.*2609A>T (n.*2609A>T)
c.4428A>T (p.Ser1476=)
n.4532A>T
c.2582A>T
c.3515A>T
c.3416A>T
c.*340A>T (n.*340A>T)
c.3401A>T
n.1321A>T
c.4506A>T (p.Ser1502=)
c.1381A>T
n.417A>T
c.3132A>T (p.Ser1044=)
c.4599A>T (p.Ser1533=)
c.4521A>T (p.Ser1507=)
c.2613A>T (p.Ser871=)
c.3636A>T (p.Ser1212=)
c.3414A>T (p.Ser1138=)
c.3399A>T (p.Ser1133=)
n.4691A>T
n.4676A>T
n.4728A>T
14g.45185285_45185286insTTTTCATCTCA2624699562FANCMc.2796_2797insTTTTCATCT (p.Ser932_Asp933insPheSerSer)
c.362_363insTTTTCATCT
c.4377_4378insTTTTCATCT (p.Ser1459_Asp1460insPheSerSer)
c.*3395_*3396insTTTTCATCT (n.*3395_*3396insTTTTCATCT)
n.320_321insTTTTCATCT
n.474_475insTTTTCATCT
c.4584_4585insTTTTCATCT (p.Ser1528_Asp1529insPheSerSer)
c.*2609_*2610insTTTTCATCT (n.*2609_*2610insTTTTCATCT)
c.4428_4429insTTTTCATCT (p.Ser1476_Asp1477insPheSerSer)
n.4532_4533insTTTTCATCT
c.2582_2583insTTTTCATCT
c.3515_3516insTTTTCATCT
c.3416_3417insTTTTCATCT
c.*340_*341insTTTTCATCT (n.*340_*341insTTTTCATCT)
c.3401_3402insTTTTCATCT
n.1321_1322insTTTTCATCT
c.4506_4507insTTTTCATCT (p.Ser1502_Asp1503insPheSerSer)
c.1381_1382insTTTTCATCT
n.417_418insTTTTCATCT
c.3132_3133insTTTTCATCT (p.Ser1044_Asp1045insPheSerSer)
c.4599_4600insTTTTCATCT (p.Ser1533_Asp1534insPheSerSer)
c.4521_4522insTTTTCATCT (p.Ser1507_Asp1508insPheSerSer)
c.2613_2614insTTTTCATCT (p.Ser871_Asp872insPheSerSer)
c.3636_3637insTTTTCATCT (p.Ser1212_Asp1213insPheSerSer)
c.3414_3415insTTTTCATCT (p.Ser1138_Asp1139insPheSerSer)
c.3399_3400insTTTTCATCT (p.Ser1133_Asp1134insPheSerSer)
n.4691_4692insTTTTCATCT
n.4676_4677insTTTTCATCT
n.4728_4729insTTTTCATCT
 gnomAD v4
14g.45185286G>ACA389608213FANCMc.2797G>A (p.Asp933Asn)
c.363G>A
c.4378G>A (p.Asp1460Asn)
c.*3396G>A (n.*3396G>A)
n.321G>A
n.475G>A
c.4585G>A (p.Asp1529Asn)
c.*2610G>A (n.*2610G>A)
c.4429G>A (p.Asp1477Asn)
n.4533G>A
c.2583G>A
c.3516G>A
c.3417G>A
c.*341G>A (n.*341G>A)
c.3402G>A
n.1322G>A
c.4507G>A (p.Asp1503Asn)
c.1382G>A
n.418G>A
c.3133G>A (p.Asp1045Asn)
c.4600G>A (p.Asp1534Asn)
c.4522G>A (p.Asp1508Asn)
c.2614G>A (p.Asp872Asn)
c.3637G>A (p.Asp1213Asn)
c.3415G>A (p.Asp1139Asn)
c.3400G>A (p.Asp1134Asn)
n.4692G>A
n.4677G>A
n.4729G>A
 ClinVar dbSNP
14g.45185286G>CCA389608214FANCMc.2797G>C (p.Asp933His)
c.363G>C
c.4378G>C (p.Asp1460His)
c.*3396G>C (n.*3396G>C)
n.321G>C
n.475G>C
c.4585G>C (p.Asp1529His)
c.*2610G>C (n.*2610G>C)
c.4429G>C (p.Asp1477His)
n.4533G>C
c.2583G>C
c.3516G>C
c.3417G>C
c.*341G>C (n.*341G>C)
c.3402G>C
n.1322G>C
c.4507G>C (p.Asp1503His)
c.1382G>C
n.418G>C
c.3133G>C (p.Asp1045His)
c.4600G>C (p.Asp1534His)
c.4522G>C (p.Asp1508His)
c.2614G>C (p.Asp872His)
c.3637G>C (p.Asp1213His)
c.3415G>C (p.Asp1139His)
c.3400G>C (p.Asp1134His)
n.4692G>C
n.4677G>C
n.4729G>C
14g.45185286G=CA2133624515FANCMc.2797G= (p.Asp933=)
c.363G=
c.4378G= (p.Asp1460=)
c.*3396G= (n.*3396G=)
n.321G=
n.475G=
c.4585G= (p.Asp1529=)
c.*2610G= (n.*2610G=)
c.4429G= (p.Asp1477=)
n.4533G=
c.2583G=
c.3516G=
c.3417G=
c.*341G= (n.*341G=)
c.3402G=
n.1322G=
c.4507G= (p.Asp1503=)
c.1382G=
n.418G=
c.3133G= (p.Asp1045=)
c.4600G= (p.Asp1534=)
c.4522G= (p.Asp1508=)
c.2614G= (p.Asp872=)
c.3637G= (p.Asp1213=)
c.3415G= (p.Asp1139=)
c.3400G= (p.Asp1134=)
n.4692G=
n.4677G=
n.4729G=
14g.45185286G>TCA389608215FANCMc.2797G>T (p.Asp933Tyr)
c.363G>T
c.4378G>T (p.Asp1460Tyr)
c.*3396G>T (n.*3396G>T)
n.321G>T
n.475G>T
c.4585G>T (p.Asp1529Tyr)
c.*2610G>T (n.*2610G>T)
c.4429G>T (p.Asp1477Tyr)
n.4533G>T
c.2583G>T
c.3516G>T
c.3417G>T
c.*341G>T (n.*341G>T)
c.3402G>T
n.1322G>T
c.4507G>T (p.Asp1503Tyr)
c.1382G>T
n.418G>T
c.3133G>T (p.Asp1045Tyr)
c.4600G>T (p.Asp1534Tyr)
c.4522G>T (p.Asp1508Tyr)
c.2614G>T (p.Asp872Tyr)
c.3637G>T (p.Asp1213Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3400G>T (p.Asp1134Tyr)
n.4692G>T
n.4677G>T
n.4729G>T
 gnomAD v4
14g.45185287A=CA2133624517FANCMc.2798A= (p.Asp933=)
c.364A=
c.4379A= (p.Asp1460=)
c.*3397A= (n.*3397A=)
n.322A=
n.476A=
c.4586A= (p.Asp1529=)
c.*2611A= (n.*2611A=)
c.4430A= (p.Asp1477=)
n.4534A=
c.2584A=
c.3517A=
c.3418A=
c.*342A= (n.*342A=)
c.3403A=
n.1323A=
c.4508A= (p.Asp1503=)
c.1383A=
n.419A=
c.3134A= (p.Asp1045=)
c.4601A= (p.Asp1534=)
c.4523A= (p.Asp1508=)
c.2615A= (p.Asp872=)
c.3638A= (p.Asp1213=)
c.3416A= (p.Asp1139=)
c.3401A= (p.Asp1134=)
n.4693A=
n.4678A=
n.4730A=
14g.45185287A>CCA389608216FANCMc.2798A>C (p.Asp933Ala)
c.364A>C
c.4379A>C (p.Asp1460Ala)
c.*3397A>C (n.*3397A>C)
n.322A>C
n.476A>C
c.4586A>C (p.Asp1529Ala)
c.*2611A>C (n.*2611A>C)
c.4430A>C (p.Asp1477Ala)
n.4534A>C
c.2584A>C
c.3517A>C
c.3418A>C
c.*342A>C (n.*342A>C)
c.3403A>C
n.1323A>C
c.4508A>C (p.Asp1503Ala)
c.1383A>C
n.419A>C
c.3134A>C (p.Asp1045Ala)
c.4601A>C (p.Asp1534Ala)
c.4523A>C (p.Asp1508Ala)
c.2615A>C (p.Asp872Ala)
c.3638A>C (p.Asp1213Ala)
c.3416A>C (p.Asp1139Ala)
c.3401A>C (p.Asp1134Ala)
n.4693A>C
n.4678A>C
n.4730A>C
14g.45185287A>GCA389608217FANCMc.2798A>G (p.Asp933Gly)
c.364A>G
c.4379A>G (p.Asp1460Gly)
c.*3397A>G (n.*3397A>G)
n.322A>G
n.476A>G
c.4586A>G (p.Asp1529Gly)
c.*2611A>G (n.*2611A>G)
c.4430A>G (p.Asp1477Gly)
n.4534A>G
c.2584A>G
c.3517A>G
c.3418A>G
c.*342A>G (n.*342A>G)
c.3403A>G
n.1323A>G
c.4508A>G (p.Asp1503Gly)
c.1383A>G
n.419A>G
c.3134A>G (p.Asp1045Gly)
c.4601A>G (p.Asp1534Gly)
c.4523A>G (p.Asp1508Gly)
c.2615A>G (p.Asp872Gly)
c.3638A>G (p.Asp1213Gly)
c.3416A>G (p.Asp1139Gly)
c.3401A>G (p.Asp1134Gly)
n.4693A>G
n.4678A>G
n.4730A>G
 ClinVar dbSNP
14g.45185287A>TCA389608218FANCMc.2798A>T (p.Asp933Val)
c.364A>T
c.4379A>T (p.Asp1460Val)
c.*3397A>T (n.*3397A>T)
n.322A>T
n.476A>T
c.4586A>T (p.Asp1529Val)
c.*2611A>T (n.*2611A>T)
c.4430A>T (p.Asp1477Val)
n.4534A>T
c.2584A>T
c.3517A>T
c.3418A>T
c.*342A>T (n.*342A>T)
c.3403A>T
n.1323A>T
c.4508A>T (p.Asp1503Val)
c.1383A>T
n.419A>T
c.3134A>T (p.Asp1045Val)
c.4601A>T (p.Asp1534Val)
c.4523A>T (p.Asp1508Val)
c.2615A>T (p.Asp872Val)
c.3638A>T (p.Asp1213Val)
c.3416A>T (p.Asp1139Val)
c.3401A>T (p.Asp1134Val)
n.4693A>T
n.4678A>T
n.4730A>T
14g.45185288T>ACA389608219FANCMc.2799T>A (p.Asp933Glu)
c.365T>A
c.4380T>A (p.Asp1460Glu)
c.*3398T>A (n.*3398T>A)
n.323T>A
n.477T>A
c.4587T>A (p.Asp1529Glu)
c.*2612T>A (n.*2612T>A)
c.4431T>A (p.Asp1477Glu)
n.4535T>A
c.2585T>A
c.3518T>A
c.3419T>A
c.*343T>A (n.*343T>A)
c.3404T>A
n.1324T>A
c.4509T>A (p.Asp1503Glu)
c.1384T>A
n.420T>A
c.3135T>A (p.Asp1045Glu)
c.4602T>A (p.Asp1534Glu)
c.4524T>A (p.Asp1508Glu)
c.2616T>A (p.Asp872Glu)
c.3639T>A (p.Asp1213Glu)
c.3417T>A (p.Asp1139Glu)
c.3402T>A (p.Asp1134Glu)
n.4694T>A
n.4679T>A
n.4731T>A
14g.45185288T>CCA486141371FANCMc.2799T>C (p.Asp933=)
c.365T>C
c.4380T>C (p.Asp1460=)
c.*3398T>C (n.*3398T>C)
n.323T>C
n.477T>C
c.4587T>C (p.Asp1529=)
c.*2612T>C (n.*2612T>C)
c.4431T>C (p.Asp1477=)
n.4535T>C
c.2585T>C
c.3518T>C
c.3419T>C
c.*343T>C (n.*343T>C)
c.3404T>C
n.1324T>C
c.4509T>C (p.Asp1503=)
c.1384T>C
n.420T>C
c.3135T>C (p.Asp1045=)
c.4602T>C (p.Asp1534=)
c.4524T>C (p.Asp1508=)
c.2616T>C (p.Asp872=)
c.3639T>C (p.Asp1213=)
c.3417T>C (p.Asp1139=)
c.3402T>C (p.Asp1134=)
n.4694T>C
n.4679T>C
n.4731T>C
14g.45185288T>GCA389608220FANCMc.2799T>G (p.Asp933Glu)
c.365T>G
c.4380T>G (p.Asp1460Glu)
c.*3398T>G (n.*3398T>G)
n.323T>G
n.477T>G
c.4587T>G (p.Asp1529Glu)
c.*2612T>G (n.*2612T>G)
c.4431T>G (p.Asp1477Glu)
n.4535T>G
c.2585T>G
c.3518T>G
c.3419T>G
c.*343T>G (n.*343T>G)
c.3404T>G
n.1324T>G
c.4509T>G (p.Asp1503Glu)
c.1384T>G
n.420T>G
c.3135T>G (p.Asp1045Glu)
c.4602T>G (p.Asp1534Glu)
c.4524T>G (p.Asp1508Glu)
c.2616T>G (p.Asp872Glu)
c.3639T>G (p.Asp1213Glu)
c.3417T>G (p.Asp1139Glu)
c.3402T>G (p.Asp1134Glu)
n.4694T>G
n.4679T>G
n.4731T>G
14g.45185289G>ACA389608221FANCMc.2800G>A (p.Glu934Lys)
c.366G>A
c.4381G>A (p.Glu1461Lys)
c.*3399G>A (n.*3399G>A)
n.324G>A
n.478G>A
c.4588G>A (p.Glu1530Lys)
c.*2613G>A (n.*2613G>A)
c.4432G>A (p.Glu1478Lys)
n.4536G>A
c.2586G>A
c.3519G>A
c.3420G>A
c.*344G>A (n.*344G>A)
c.3405G>A
n.1325G>A
c.4510G>A (p.Glu1504Lys)
c.1385G>A
n.421G>A
c.3136G>A (p.Glu1046Lys)
c.4603G>A (p.Glu1535Lys)
c.4525G>A (p.Glu1509Lys)
c.2617G>A (p.Glu873Lys)
c.3640G>A (p.Glu1214Lys)
c.3418G>A (p.Glu1140Lys)
c.3403G>A (p.Glu1135Lys)
n.4695G>A
n.4680G>A
n.4732G>A
 gnomAD v4
14g.45185289G>CCA389608222FANCMc.2800G>C (p.Glu934Gln)
c.366G>C
c.4381G>C (p.Glu1461Gln)
c.*3399G>C (n.*3399G>C)
n.324G>C
n.478G>C
c.4588G>C (p.Glu1530Gln)
c.*2613G>C (n.*2613G>C)
c.4432G>C (p.Glu1478Gln)
n.4536G>C
c.2586G>C
c.3519G>C
c.3420G>C
c.*344G>C (n.*344G>C)
c.3405G>C
n.1325G>C
c.4510G>C (p.Glu1504Gln)
c.1385G>C
n.421G>C
c.3136G>C (p.Glu1046Gln)
c.4603G>C (p.Glu1535Gln)
c.4525G>C (p.Glu1509Gln)
c.2617G>C (p.Glu873Gln)
c.3640G>C (p.Glu1214Gln)
c.3418G>C (p.Glu1140Gln)
c.3403G>C (p.Glu1135Gln)
n.4695G>C
n.4680G>C
n.4732G>C
14g.45185289G>TCA389608223FANCMc.2800G>T (p.Glu934Ter)
c.366G>T
c.4381G>T (p.Glu1461Ter)
c.*3399G>T (n.*3399G>T)
n.324G>T
n.478G>T
c.4588G>T (p.Glu1530Ter)
c.*2613G>T (n.*2613G>T)
c.4432G>T (p.Glu1478Ter)
n.4536G>T
c.2586G>T
c.3519G>T
c.3420G>T
c.*344G>T (n.*344G>T)
c.3405G>T
n.1325G>T
c.4510G>T (p.Glu1504Ter)
c.1385G>T
n.421G>T
c.3136G>T (p.Glu1046Ter)
c.4603G>T (p.Glu1535Ter)
c.4525G>T (p.Glu1509Ter)
c.2617G>T (p.Glu873Ter)
c.3640G>T (p.Glu1214Ter)
c.3418G>T (p.Glu1140Ter)
c.3403G>T (p.Glu1135Ter)
n.4695G>T
n.4680G>T
n.4732G>T
 gnomAD v4
14g.45185290A>CCA389608224FANCMc.2801A>C (p.Glu934Ala)
c.367A>C
c.4382A>C (p.Glu1461Ala)
c.*3400A>C (n.*3400A>C)
n.325A>C
n.479A>C
c.4589A>C (p.Glu1530Ala)
c.*2614A>C (n.*2614A>C)
c.4433A>C (p.Glu1478Ala)
n.4537A>C
c.2587A>C
c.3520A>C
c.3421A>C
c.*345A>C (n.*345A>C)
c.3406A>C
n.1326A>C
c.4511A>C (p.Glu1504Ala)
c.1386A>C
n.422A>C
c.3137A>C (p.Glu1046Ala)
c.4604A>C (p.Glu1535Ala)
c.4526A>C (p.Glu1509Ala)
c.2618A>C (p.Glu873Ala)
c.3641A>C (p.Glu1214Ala)
c.3419A>C (p.Glu1140Ala)
c.3404A>C (p.Glu1135Ala)
n.4696A>C
n.4681A>C
n.4733A>C
14g.45185290A>GCA389608225FANCMc.2801A>G (p.Glu934Gly)
c.367A>G
c.4382A>G (p.Glu1461Gly)
c.*3400A>G (n.*3400A>G)
n.325A>G
n.479A>G
c.4589A>G (p.Glu1530Gly)
c.*2614A>G (n.*2614A>G)
c.4433A>G (p.Glu1478Gly)
n.4537A>G
c.2587A>G
c.3520A>G
c.3421A>G
c.*345A>G (n.*345A>G)
c.3406A>G
n.1326A>G
c.4511A>G (p.Glu1504Gly)
c.1386A>G
n.422A>G
c.3137A>G (p.Glu1046Gly)
c.4604A>G (p.Glu1535Gly)
c.4526A>G (p.Glu1509Gly)
c.2618A>G (p.Glu873Gly)
c.3641A>G (p.Glu1214Gly)
c.3419A>G (p.Glu1140Gly)
c.3404A>G (p.Glu1135Gly)
n.4696A>G
n.4681A>G
n.4733A>G
14g.45185290A>TCA389608226FANCMc.2801A>T (p.Glu934Val)
c.367A>T
c.4382A>T (p.Glu1461Val)
c.*3400A>T (n.*3400A>T)
n.325A>T
n.479A>T
c.4589A>T (p.Glu1530Val)
c.*2614A>T (n.*2614A>T)
c.4433A>T (p.Glu1478Val)
n.4537A>T
c.2587A>T
c.3520A>T
c.3421A>T
c.*345A>T (n.*345A>T)
c.3406A>T
n.1326A>T
c.4511A>T (p.Glu1504Val)
c.1386A>T
n.422A>T
c.3137A>T (p.Glu1046Val)
c.4604A>T (p.Glu1535Val)
c.4526A>T (p.Glu1509Val)
c.2618A>T (p.Glu873Val)
c.3641A>T (p.Glu1214Val)
c.3419A>T (p.Glu1140Val)
c.3404A>T (p.Glu1135Val)
n.4696A>T
n.4681A>T
n.4733A>T
14g.45185293delCA2624699563FANCMc.2804del (p.Asn935MetfsTer16)
c.370del
c.4385del (p.Asn1462MetfsTer16)
c.*3403del (n.*3403del)
n.328del
n.482del
c.4592del (p.Asn1531MetfsTer16)
c.*2617del (n.*2617del)
c.4436del (p.Asn1479MetfsTer16)
n.4540del
c.2590del
c.3523del
c.3424del
c.*348del (n.*348del)
c.3409del
n.1329del
c.4514del (p.Asn1505MetfsTer16)
c.1389del
n.425del
c.3140del (p.Asn1047MetfsTer16)
c.4607del (p.Asn1536MetfsTer16)
c.4529del (p.Asn1510MetfsTer16)
c.2621del (p.Asn874MetfsTer16)
c.3644del (p.Asn1215MetfsTer16)
c.3422del (p.Asn1141MetfsTer16)
c.3407del (p.Asn1136MetfsTer16)
n.4699del
n.4684del
n.4736del
 gnomAD v4
14g.45185291A>CCA389608227FANCMc.2802A>C (p.Glu934Asp)
c.368A>C
c.4383A>C (p.Glu1461Asp)
c.*3401A>C (n.*3401A>C)
n.326A>C
n.480A>C
c.4590A>C (p.Glu1530Asp)
c.*2615A>C (n.*2615A>C)
c.4434A>C (p.Glu1478Asp)
n.4538A>C
c.2588A>C
c.3521A>C
c.3422A>C
c.*346A>C (n.*346A>C)
c.3407A>C
n.1327A>C
c.4512A>C (p.Glu1504Asp)
c.1387A>C
n.423A>C
c.3138A>C (p.Glu1046Asp)
c.4605A>C (p.Glu1535Asp)
c.4527A>C (p.Glu1509Asp)
c.2619A>C (p.Glu873Asp)
c.3642A>C (p.Glu1214Asp)
c.3420A>C (p.Glu1140Asp)
c.3405A>C (p.Glu1135Asp)
n.4697A>C
n.4682A>C
n.4734A>C
14g.45185291A>GCA486141373FANCMc.2802A>G (p.Glu934=)
c.368A>G
c.4383A>G (p.Glu1461=)
c.*3401A>G (n.*3401A>G)
n.326A>G
n.480A>G
c.4590A>G (p.Glu1530=)
c.*2615A>G (n.*2615A>G)
c.4434A>G (p.Glu1478=)
n.4538A>G
c.2588A>G
c.3521A>G
c.3422A>G
c.*346A>G (n.*346A>G)
c.3407A>G
n.1327A>G
c.4512A>G (p.Glu1504=)
c.1387A>G
n.423A>G
c.3138A>G (p.Glu1046=)
c.4605A>G (p.Glu1535=)
c.4527A>G (p.Glu1509=)
c.2619A>G (p.Glu873=)
c.3642A>G (p.Glu1214=)
c.3420A>G (p.Glu1140=)
c.3405A>G (p.Glu1135=)
n.4697A>G
n.4682A>G
n.4734A>G
14g.45185291A>TCA389608228FANCMc.2802A>T (p.Glu934Asp)
c.368A>T
c.4383A>T (p.Glu1461Asp)
c.*3401A>T (n.*3401A>T)
n.326A>T
n.480A>T
c.4590A>T (p.Glu1530Asp)
c.*2615A>T (n.*2615A>T)
c.4434A>T (p.Glu1478Asp)
n.4538A>T
c.2588A>T
c.3521A>T
c.3422A>T
c.*346A>T (n.*346A>T)
c.3407A>T
n.1327A>T
c.4512A>T (p.Glu1504Asp)
c.1387A>T
n.423A>T
c.3138A>T (p.Glu1046Asp)
c.4605A>T (p.Glu1535Asp)
c.4527A>T (p.Glu1509Asp)
c.2619A>T (p.Glu873Asp)
c.3642A>T (p.Glu1214Asp)
c.3420A>T (p.Glu1140Asp)
c.3405A>T (p.Glu1135Asp)
n.4697A>T
n.4682A>T
n.4734A>T
14g.45185292A>CCA389608229FANCMc.2803A>C (p.Asn935His)
c.369A>C
c.4384A>C (p.Asn1462His)
c.*3402A>C (n.*3402A>C)
n.327A>C
n.481A>C
c.4591A>C (p.Asn1531His)
c.*2616A>C (n.*2616A>C)
c.4435A>C (p.Asn1479His)
n.4539A>C
c.2589A>C
c.3522A>C
c.3423A>C
c.*347A>C (n.*347A>C)
c.3408A>C
n.1328A>C
c.4513A>C (p.Asn1505His)
c.1388A>C
n.424A>C
c.3139A>C (p.Asn1047His)
c.4606A>C (p.Asn1536His)
c.4528A>C (p.Asn1510His)
c.2620A>C (p.Asn874His)
c.3643A>C (p.Asn1215His)
c.3421A>C (p.Asn1141His)
c.3406A>C (p.Asn1136His)
n.4698A>C
n.4683A>C
n.4735A>C
14g.45185292A>GCA389608230FANCMc.2803A>G (p.Asn935Asp)
c.369A>G
c.4384A>G (p.Asn1462Asp)
c.*3402A>G (n.*3402A>G)
n.327A>G
n.481A>G
c.4591A>G (p.Asn1531Asp)
c.*2616A>G (n.*2616A>G)
c.4435A>G (p.Asn1479Asp)
n.4539A>G
c.2589A>G
c.3522A>G
c.3423A>G
c.*347A>G (n.*347A>G)
c.3408A>G
n.1328A>G
c.4513A>G (p.Asn1505Asp)
c.1388A>G
n.424A>G
c.3139A>G (p.Asn1047Asp)
c.4606A>G (p.Asn1536Asp)
c.4528A>G (p.Asn1510Asp)
c.2620A>G (p.Asn874Asp)
c.3643A>G (p.Asn1215Asp)
c.3421A>G (p.Asn1141Asp)
c.3406A>G (p.Asn1136Asp)
n.4698A>G
n.4683A>G
n.4735A>G
 ClinVar
14g.45185292A>TCA389608231FANCMc.2803A>T (p.Asn935Tyr)
c.369A>T
c.4384A>T (p.Asn1462Tyr)
c.*3402A>T (n.*3402A>T)
n.327A>T
n.481A>T
c.4591A>T (p.Asn1531Tyr)
c.*2616A>T (n.*2616A>T)
c.4435A>T (p.Asn1479Tyr)
n.4539A>T
c.2589A>T
c.3522A>T
c.3423A>T
c.*347A>T (n.*347A>T)
c.3408A>T
n.1328A>T
c.4513A>T (p.Asn1505Tyr)
c.1388A>T
n.424A>T
c.3139A>T (p.Asn1047Tyr)
c.4606A>T (p.Asn1536Tyr)
c.4528A>T (p.Asn1510Tyr)
c.2620A>T (p.Asn874Tyr)
c.3643A>T (p.Asn1215Tyr)
c.3421A>T (p.Asn1141Tyr)
c.3406A>T (p.Asn1136Tyr)
n.4698A>T
n.4683A>T
n.4735A>T
14g.45185292_45185295delinsAATGCA2133624518FANCMc.2803_2806delinsAATG (p.Asn935=)
c.369_372delinsAATG
c.4384_4387delinsAATG (p.Asn1462=)
c.*3402_*3405delinsAATG (n.*3402_*3405delinsAATG)
n.327_330delinsAATG
n.481_484delinsAATG
c.4591_4594delinsAATG (p.Asn1531=)
c.*2616_*2619delinsAATG (n.*2616_*2619delinsAATG)
c.4435_4438delinsAATG (p.Asn1479=)
n.4539_4542delinsAATG
c.2589_2592delinsAATG
c.3522_3525delinsAATG
c.3423_3426delinsAATG
c.*347_*350delinsAATG (n.*347_*350delinsAATG)
c.3408_3411delinsAATG
n.1328_1331delinsAATG
c.4513_4516delinsAATG (p.Asn1505=)
c.1388_1391delinsAATG
n.424_427delinsAATG
c.3139_3142delinsAATG (p.Asn1047=)
c.4606_4609delinsAATG (p.Asn1536=)
c.4528_4531delinsAATG (p.Asn1510=)
c.2620_2623delinsAATG (p.Asn874=)
c.3643_3646delinsAATG (p.Asn1215=)
c.3421_3424delinsAATG (p.Asn1141=)
c.3406_3409delinsAATG (p.Asn1136=)
n.4698_4701delinsAATG
n.4683_4686delinsAATG
n.4735_4738delinsAATG
14g.45185293A>CCA389608233FANCMc.2804A>C (p.Asn935Thr)
c.370A>C
c.4385A>C (p.Asn1462Thr)
c.*3403A>C (n.*3403A>C)
n.328A>C
n.482A>C
c.4592A>C (p.Asn1531Thr)
c.*2617A>C (n.*2617A>C)
c.4436A>C (p.Asn1479Thr)
n.4540A>C
c.2590A>C
c.3523A>C
c.3424A>C
c.*348A>C (n.*348A>C)
c.3409A>C
n.1329A>C
c.4514A>C (p.Asn1505Thr)
c.1389A>C
n.425A>C
c.3140A>C (p.Asn1047Thr)
c.4607A>C (p.Asn1536Thr)
c.4529A>C (p.Asn1510Thr)
c.2621A>C (p.Asn874Thr)
c.3644A>C (p.Asn1215Thr)
c.3422A>C (p.Asn1141Thr)
c.3407A>C (p.Asn1136Thr)
n.4699A>C
n.4684A>C
n.4736A>C
14g.45185293A>GCA389608234FANCMc.2804A>G (p.Asn935Ser)
c.370A>G
c.4385A>G (p.Asn1462Ser)
c.*3403A>G (n.*3403A>G)
n.328A>G
n.482A>G
c.4592A>G (p.Asn1531Ser)
c.*2617A>G (n.*2617A>G)
c.4436A>G (p.Asn1479Ser)
n.4540A>G
c.2590A>G
c.3523A>G
c.3424A>G
c.*348A>G (n.*348A>G)
c.3409A>G
n.1329A>G
c.4514A>G (p.Asn1505Ser)
c.1389A>G
n.425A>G
c.3140A>G (p.Asn1047Ser)
c.4607A>G (p.Asn1536Ser)
c.4529A>G (p.Asn1510Ser)
c.2621A>G (p.Asn874Ser)
c.3644A>G (p.Asn1215Ser)
c.3422A>G (p.Asn1141Ser)
c.3407A>G (p.Asn1136Ser)
n.4699A>G
n.4684A>G
n.4736A>G
14g.45185293A>TCA389608232FANCMc.2804A>T (p.Asn935Ile)
c.370A>T
c.4385A>T (p.Asn1462Ile)
c.*3403A>T (n.*3403A>T)
n.328A>T
n.482A>T
c.4592A>T (p.Asn1531Ile)
c.*2617A>T (n.*2617A>T)
c.4436A>T (p.Asn1479Ile)
n.4540A>T
c.2590A>T
c.3523A>T
c.3424A>T
c.*348A>T (n.*348A>T)
c.3409A>T
n.1329A>T
c.4514A>T (p.Asn1505Ile)
c.1389A>T
n.425A>T
c.3140A>T (p.Asn1047Ile)
c.4607A>T (p.Asn1536Ile)
c.4529A>T (p.Asn1510Ile)
c.2621A>T (p.Asn874Ile)
c.3644A>T (p.Asn1215Ile)
c.3422A>T (p.Asn1141Ile)
c.3407A>T (p.Asn1136Ile)
n.4699A>T
n.4684A>T
n.4736A>T
14g.45185297_45185299delCA614273623FANCMc.2808_2810del (p.Asp936del)
c.374_376del
c.4389_4391del (p.Asp1463del)
c.*3407_*3409del (n.*3407_*3409del)
n.332_334del
n.486_488del
c.4596_4598del (p.Asp1532del)
c.*2621_*2623del (n.*2621_*2623del)
c.4440_4442del (p.Asp1480del)
n.4544_4546del
c.2594_2596del
c.3527_3529del
c.3428_3430del
c.*352_*354del (n.*352_*354del)
c.3413_3415del
n.1333_1335del
c.4518_4520del (p.Asp1506del)
c.1393_1395del
n.429_431del
c.3144_3146del (p.Asp1048del)
c.4611_4613del (p.Asp1537del)
c.4533_4535del (p.Asp1511del)
c.2625_2627del (p.Asp875del)
c.3648_3650del (p.Asp1216del)
c.3426_3428del (p.Asp1142del)
c.3411_3413del (p.Asp1137del)
n.4703_4705del
n.4688_4690del
n.4740_4742del
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.45185294T>ACA389608235FANCMc.2805T>A (p.Asn935Lys)
c.371T>A
c.4386T>A (p.Asn1462Lys)
c.*3404T>A (n.*3404T>A)
n.329T>A
n.483T>A
c.4593T>A (p.Asn1531Lys)
c.*2618T>A (n.*2618T>A)
c.4437T>A (p.Asn1479Lys)
n.4541T>A
c.2591T>A
c.3524T>A
c.3425T>A
c.*349T>A (n.*349T>A)
c.3410T>A
n.1330T>A
c.4515T>A (p.Asn1505Lys)
c.1390T>A
n.426T>A
c.3141T>A (p.Asn1047Lys)
c.4608T>A (p.Asn1536Lys)
c.4530T>A (p.Asn1510Lys)
c.2622T>A (p.Asn874Lys)
c.3645T>A (p.Asn1215Lys)
c.3423T>A (p.Asn1141Lys)
c.3408T>A (p.Asn1136Lys)
n.4700T>A
n.4685T>A
n.4737T>A
14g.45185294T>CCA259634573FANCMc.2805T>C (p.Asn935=)
c.371T>C
c.4386T>C (p.Asn1462=)
c.*3404T>C (n.*3404T>C)
n.329T>C
n.483T>C
c.4593T>C (p.Asn1531=)
c.*2618T>C (n.*2618T>C)
c.4437T>C (p.Asn1479=)
n.4541T>C
c.2591T>C
c.3524T>C
c.3425T>C
c.*349T>C (n.*349T>C)
c.3410T>C
n.1330T>C
c.4515T>C (p.Asn1505=)
c.1390T>C
n.426T>C
c.3141T>C (p.Asn1047=)
c.4608T>C (p.Asn1536=)
c.4530T>C (p.Asn1510=)
c.2622T>C (p.Asn874=)
c.3645T>C (p.Asn1215=)
c.3423T>C (p.Asn1141=)
c.3408T>C (p.Asn1136=)
n.4700T>C
n.4685T>C
n.4737T>C
 dbSNP gnomAD v4
14g.45185294T>GCA389608236FANCMc.2805T>G (p.Asn935Lys)
c.371T>G
c.4386T>G (p.Asn1462Lys)
c.*3404T>G (n.*3404T>G)
n.329T>G
n.483T>G
c.4593T>G (p.Asn1531Lys)
c.*2618T>G (n.*2618T>G)
c.4437T>G (p.Asn1479Lys)
n.4541T>G
c.2591T>G
c.3524T>G
c.3425T>G
c.*349T>G (n.*349T>G)
c.3410T>G
n.1330T>G
c.4515T>G (p.Asn1505Lys)
c.1390T>G
n.426T>G
c.3141T>G (p.Asn1047Lys)
c.4608T>G (p.Asn1536Lys)
c.4530T>G (p.Asn1510Lys)
c.2622T>G (p.Asn874Lys)
c.3645T>G (p.Asn1215Lys)
c.3423T>G (p.Asn1141Lys)
c.3408T>G (p.Asn1136Lys)
n.4700T>G
n.4685T>G
n.4737T>G
14g.45185294T=CA2133624521FANCMc.2805T= (p.Asn935=)
c.371T=
c.4386T= (p.Asn1462=)
c.*3404T= (n.*3404T=)
n.329T=
n.483T=
c.4593T= (p.Asn1531=)
c.*2618T= (n.*2618T=)
c.4437T= (p.Asn1479=)
n.4541T=
c.2591T=
c.3524T=
c.3425T=
c.*349T= (n.*349T=)
c.3410T=
n.1330T=
c.4515T= (p.Asn1505=)
c.1390T=
n.426T=
c.3141T= (p.Asn1047=)
c.4608T= (p.Asn1536=)
c.4530T= (p.Asn1510=)
c.2622T= (p.Asn874=)
c.3645T= (p.Asn1215=)
c.3423T= (p.Asn1141=)
c.3408T= (p.Asn1136=)
n.4700T=
n.4685T=
n.4737T=
14g.45185295G>ACA389608237FANCMc.2806G>A (p.Asp936Asn)
c.372G>A
c.4387G>A (p.Asp1463Asn)
c.*3405G>A (n.*3405G>A)
n.330G>A
n.484G>A
c.4594G>A (p.Asp1532Asn)
c.*2619G>A (n.*2619G>A)
c.4438G>A (p.Asp1480Asn)
n.4542G>A
c.2592G>A
c.3525G>A
c.3426G>A
c.*350G>A (n.*350G>A)
c.3411G>A
n.1331G>A
c.4516G>A (p.Asp1506Asn)
c.1391G>A
n.427G>A
c.3142G>A (p.Asp1048Asn)
c.4609G>A (p.Asp1537Asn)
c.4531G>A (p.Asp1511Asn)
c.2623G>A (p.Asp875Asn)
c.3646G>A (p.Asp1216Asn)
c.3424G>A (p.Asp1142Asn)
c.3409G>A (p.Asp1137Asn)
n.4701G>A
n.4686G>A
n.4738G>A
 ClinVar
14g.45185295G>CCA389608238FANCMc.2806G>C (p.Asp936His)
c.372G>C
c.4387G>C (p.Asp1463His)
c.*3405G>C (n.*3405G>C)
n.330G>C
n.484G>C
c.4594G>C (p.Asp1532His)
c.*2619G>C (n.*2619G>C)
c.4438G>C (p.Asp1480His)
n.4542G>C
c.2592G>C
c.3525G>C
c.3426G>C
c.*350G>C (n.*350G>C)
c.3411G>C
n.1331G>C
c.4516G>C (p.Asp1506His)
c.1391G>C
n.427G>C
c.3142G>C (p.Asp1048His)
c.4609G>C (p.Asp1537His)
c.4531G>C (p.Asp1511His)
c.2623G>C (p.Asp875His)
c.3646G>C (p.Asp1216His)
c.3424G>C (p.Asp1142His)
c.3409G>C (p.Asp1137His)
n.4701G>C
n.4686G>C
n.4738G>C
14g.45185295G>TCA389608239FANCMc.2806G>T (p.Asp936Tyr)
c.372G>T
c.4387G>T (p.Asp1463Tyr)
c.*3405G>T (n.*3405G>T)
n.330G>T
n.484G>T
c.4594G>T (p.Asp1532Tyr)
c.*2619G>T (n.*2619G>T)
c.4438G>T (p.Asp1480Tyr)
n.4542G>T
c.2592G>T
c.3525G>T
c.3426G>T
c.*350G>T (n.*350G>T)
c.3411G>T
n.1331G>T
c.4516G>T (p.Asp1506Tyr)
c.1391G>T
n.427G>T
c.3142G>T (p.Asp1048Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4531G>T (p.Asp1511Tyr)
c.2623G>T (p.Asp875Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3424G>T (p.Asp1142Tyr)
c.3409G>T (p.Asp1137Tyr)
n.4701G>T
n.4686G>T
n.4738G>T
14g.45185296A>CCA389608240FANCMc.2807A>C (p.Asp936Ala)
c.373A>C
c.4388A>C (p.Asp1463Ala)
c.*3406A>C (n.*3406A>C)
n.331A>C
n.485A>C
c.4595A>C (p.Asp1532Ala)
c.*2620A>C (n.*2620A>C)
c.4439A>C (p.Asp1480Ala)
n.4543A>C
c.2593A>C
c.3526A>C
c.3427A>C
c.*351A>C (n.*351A>C)
c.3412A>C
n.1332A>C
c.4517A>C (p.Asp1506Ala)
c.1392A>C
n.428A>C
c.3143A>C (p.Asp1048Ala)
c.4610A>C (p.Asp1537Ala)
c.4532A>C (p.Asp1511Ala)
c.2624A>C (p.Asp875Ala)
c.3647A>C (p.Asp1216Ala)
c.3425A>C (p.Asp1142Ala)
c.3410A>C (p.Asp1137Ala)
n.4702A>C
n.4687A>C
n.4739A>C
14g.45185296A>GCA389608241FANCMc.2807A>G (p.Asp936Gly)
c.373A>G
c.4388A>G (p.Asp1463Gly)
c.*3406A>G (n.*3406A>G)
n.331A>G
n.485A>G
c.4595A>G (p.Asp1532Gly)
c.*2620A>G (n.*2620A>G)
c.4439A>G (p.Asp1480Gly)
n.4543A>G
c.2593A>G
c.3526A>G
c.3427A>G
c.*351A>G (n.*351A>G)
c.3412A>G
n.1332A>G
c.4517A>G (p.Asp1506Gly)
c.1392A>G
n.428A>G
c.3143A>G (p.Asp1048Gly)
c.4610A>G (p.Asp1537Gly)
c.4532A>G (p.Asp1511Gly)
c.2624A>G (p.Asp875Gly)
c.3647A>G (p.Asp1216Gly)
c.3425A>G (p.Asp1142Gly)
c.3410A>G (p.Asp1137Gly)
n.4702A>G
n.4687A>G
n.4739A>G
14g.45185296A>TCA389608242FANCMc.2807A>T (p.Asp936Val)
c.373A>T
c.4388A>T (p.Asp1463Val)
c.*3406A>T (n.*3406A>T)
n.331A>T
n.485A>T
c.4595A>T (p.Asp1532Val)
c.*2620A>T (n.*2620A>T)
c.4439A>T (p.Asp1480Val)
n.4543A>T
c.2593A>T
c.3526A>T
c.3427A>T
c.*351A>T (n.*351A>T)
c.3412A>T
n.1332A>T
c.4517A>T (p.Asp1506Val)
c.1392A>T
n.428A>T
c.3143A>T (p.Asp1048Val)
c.4610A>T (p.Asp1537Val)
c.4532A>T (p.Asp1511Val)
c.2624A>T (p.Asp875Val)
c.3647A>T (p.Asp1216Val)
c.3425A>T (p.Asp1142Val)
c.3410A>T (p.Asp1137Val)
n.4702A>T
n.4687A>T
n.4739A>T
14g.45185297T>ACA389608243FANCMc.2808T>A (p.Asp936Glu)
c.374T>A
c.4389T>A (p.Asp1463Glu)
c.*3407T>A (n.*3407T>A)
n.332T>A
n.486T>A
c.4596T>A (p.Asp1532Glu)
c.*2621T>A (n.*2621T>A)
c.4440T>A (p.Asp1480Glu)
n.4544T>A
c.2594T>A
c.3527T>A
c.3428T>A
c.*352T>A (n.*352T>A)
c.3413T>A
n.1333T>A
c.4518T>A (p.Asp1506Glu)
c.1393T>A
n.429T>A
c.3144T>A (p.Asp1048Glu)
c.4611T>A (p.Asp1537Glu)
c.4533T>A (p.Asp1511Glu)
c.2625T>A (p.Asp875Glu)
c.3648T>A (p.Asp1216Glu)
c.3426T>A (p.Asp1142Glu)
c.3411T>A (p.Asp1137Glu)
n.4703T>A
n.4688T>A
n.4740T>A
14g.45185297T>CCA486141375FANCMc.2808T>C (p.Asp936=)
c.374T>C
c.4389T>C (p.Asp1463=)
c.*3407T>C (n.*3407T>C)
n.332T>C
n.486T>C
c.4596T>C (p.Asp1532=)
c.*2621T>C (n.*2621T>C)
c.4440T>C (p.Asp1480=)
n.4544T>C
c.2594T>C
c.3527T>C
c.3428T>C
c.*352T>C (n.*352T>C)
c.3413T>C
n.1333T>C
c.4518T>C (p.Asp1506=)
c.1393T>C
n.429T>C
c.3144T>C (p.Asp1048=)
c.4611T>C (p.Asp1537=)
c.4533T>C (p.Asp1511=)
c.2625T>C (p.Asp875=)
c.3648T>C (p.Asp1216=)
c.3426T>C (p.Asp1142=)
c.3411T>C (p.Asp1137=)
n.4703T>C
n.4688T>C
n.4740T>C
14g.45185297T>GCA389608244FANCMc.2808T>G (p.Asp936Glu)
c.374T>G
c.4389T>G (p.Asp1463Glu)
c.*3407T>G (n.*3407T>G)
n.332T>G
n.486T>G
c.4596T>G (p.Asp1532Glu)
c.*2621T>G (n.*2621T>G)
c.4440T>G (p.Asp1480Glu)
n.4544T>G
c.2594T>G
c.3527T>G
c.3428T>G
c.*352T>G (n.*352T>G)
c.3413T>G
n.1333T>G
c.4518T>G (p.Asp1506Glu)
c.1393T>G
n.429T>G
c.3144T>G (p.Asp1048Glu)
c.4611T>G (p.Asp1537Glu)
c.4533T>G (p.Asp1511Glu)
c.2625T>G (p.Asp875Glu)
c.3648T>G (p.Asp1216Glu)
c.3426T>G (p.Asp1142Glu)
c.3411T>G (p.Asp1137Glu)
n.4703T>G
n.4688T>G
n.4740T>G
14g.45185298G>ACA259634575FANCMc.2809G>A (p.Glu937Lys)
c.375G>A
c.4390G>A (p.Glu1464Lys)
c.*3408G>A (n.*3408G>A)
n.333G>A
n.487G>A
c.4597G>A (p.Glu1533Lys)
c.*2622G>A (n.*2622G>A)
c.4441G>A (p.Glu1481Lys)
n.4545G>A
c.2595G>A
c.3528G>A
c.3429G>A
c.*353G>A (n.*353G>A)
c.3414G>A
n.1334G>A
c.4519G>A (p.Glu1507Lys)
c.1394G>A
n.430G>A
c.3145G>A (p.Glu1049Lys)
c.4612G>A (p.Glu1538Lys)
c.4534G>A (p.Glu1512Lys)
c.2626G>A (p.Glu876Lys)
c.3649G>A (p.Glu1217Lys)
c.3427G>A (p.Glu1143Lys)
c.3412G>A (p.Glu1138Lys)
n.4704G>A
n.4689G>A
n.4741G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.45185298G>CCA389608245FANCMc.2809G>C (p.Glu937Gln)
c.375G>C
c.4390G>C (p.Glu1464Gln)
c.*3408G>C (n.*3408G>C)
n.333G>C
n.487G>C
c.4597G>C (p.Glu1533Gln)
c.*2622G>C (n.*2622G>C)
c.4441G>C (p.Glu1481Gln)
n.4545G>C
c.2595G>C
c.3528G>C
c.3429G>C
c.*353G>C (n.*353G>C)
c.3414G>C
n.1334G>C
c.4519G>C (p.Glu1507Gln)
c.1394G>C
n.430G>C
c.3145G>C (p.Glu1049Gln)
c.4612G>C (p.Glu1538Gln)
c.4534G>C (p.Glu1512Gln)
c.2626G>C (p.Glu876Gln)
c.3649G>C (p.Glu1217Gln)
c.3427G>C (p.Glu1143Gln)
c.3412G>C (p.Glu1138Gln)
n.4704G>C
n.4689G>C
n.4741G>C
14g.45185298G=CA2133624522FANCMc.2809G= (p.Glu937=)
c.375G=
c.4390G= (p.Glu1464=)
c.*3408G= (n.*3408G=)
n.333G=
n.487G=
c.4597G= (p.Glu1533=)
c.*2622G= (n.*2622G=)
c.4441G= (p.Glu1481=)
n.4545G=
c.2595G=
c.3528G=
c.3429G=
c.*353G= (n.*353G=)
c.3414G=
n.1334G=
c.4519G= (p.Glu1507=)
c.1394G=
n.430G=
c.3145G= (p.Glu1049=)
c.4612G= (p.Glu1538=)
c.4534G= (p.Glu1512=)
c.2626G= (p.Glu876=)
c.3649G= (p.Glu1217=)
c.3427G= (p.Glu1143=)
c.3412G= (p.Glu1138=)
n.4704G=
n.4689G=
n.4741G=
14g.45185298G>TCA389608246FANCMc.2809G>T (p.Glu937Ter)
c.375G>T
c.4390G>T (p.Glu1464Ter)
c.*3408G>T (n.*3408G>T)
n.333G>T
n.487G>T
c.4597G>T (p.Glu1533Ter)
c.*2622G>T (n.*2622G>T)
c.4441G>T (p.Glu1481Ter)
n.4545G>T
c.2595G>T
c.3528G>T
c.3429G>T
c.*353G>T (n.*353G>T)
c.3414G>T
n.1334G>T
c.4519G>T (p.Glu1507Ter)
c.1394G>T
n.430G>T
c.3145G>T (p.Glu1049Ter)
c.4612G>T (p.Glu1538Ter)
c.4534G>T (p.Glu1512Ter)
c.2626G>T (p.Glu876Ter)
c.3649G>T (p.Glu1217Ter)
c.3427G>T (p.Glu1143Ter)
c.3412G>T (p.Glu1138Ter)
n.4704G>T
n.4689G>T
n.4741G>T
14g.45185299A>CCA389608249FANCMc.2810A>C (p.Glu937Ala)
c.376A>C
c.4391A>C (p.Glu1464Ala)
c.*3409A>C (n.*3409A>C)
n.334A>C
n.488A>C
c.4598A>C (p.Glu1533Ala)
c.*2623A>C (n.*2623A>C)
c.4442A>C (p.Glu1481Ala)
n.4546A>C
c.2596A>C
c.3529A>C
c.3430A>C
c.*354A>C (n.*354A>C)
c.3415A>C
n.1335A>C
c.4520A>C (p.Glu1507Ala)
c.1395A>C
n.431A>C
c.3146A>C (p.Glu1049Ala)
c.4613A>C (p.Glu1538Ala)
c.4535A>C (p.Glu1512Ala)
c.2627A>C (p.Glu876Ala)
c.3650A>C (p.Glu1217Ala)
c.3428A>C (p.Glu1143Ala)
c.3413A>C (p.Glu1138Ala)
n.4705A>C
n.4690A>C
n.4742A>C
14g.45185299A>GCA389608248FANCMc.2810A>G (p.Glu937Gly)
c.376A>G
c.4391A>G (p.Glu1464Gly)
c.*3409A>G (n.*3409A>G)
n.334A>G
n.488A>G
c.4598A>G (p.Glu1533Gly)
c.*2623A>G (n.*2623A>G)
c.4442A>G (p.Glu1481Gly)
n.4546A>G
c.2596A>G
c.3529A>G
c.3430A>G
c.*354A>G (n.*354A>G)
c.3415A>G
n.1335A>G
c.4520A>G (p.Glu1507Gly)
c.1395A>G
n.431A>G
c.3146A>G (p.Glu1049Gly)
c.4613A>G (p.Glu1538Gly)
c.4535A>G (p.Glu1512Gly)
c.2627A>G (p.Glu876Gly)
c.3650A>G (p.Glu1217Gly)
c.3428A>G (p.Glu1143Gly)
c.3413A>G (p.Glu1138Gly)
n.4705A>G
n.4690A>G
n.4742A>G
14g.45185299A>TCA389608247FANCMc.2810A>T (p.Glu937Val)
c.376A>T
c.4391A>T (p.Glu1464Val)
c.*3409A>T (n.*3409A>T)
n.334A>T
n.488A>T
c.4598A>T (p.Glu1533Val)
c.*2623A>T (n.*2623A>T)
c.4442A>T (p.Glu1481Val)
n.4546A>T
c.2596A>T
c.3529A>T
c.3430A>T
c.*354A>T (n.*354A>T)
c.3415A>T
n.1335A>T
c.4520A>T (p.Glu1507Val)
c.1395A>T
n.431A>T
c.3146A>T (p.Glu1049Val)
c.4613A>T (p.Glu1538Val)
c.4535A>T (p.Glu1512Val)
c.2627A>T (p.Glu876Val)
c.3650A>T (p.Glu1217Val)
c.3428A>T (p.Glu1143Val)
c.3413A>T (p.Glu1138Val)
n.4705A>T
n.4690A>T
n.4742A>T
14g.45185300G>ACA7169800FANCMc.2811G>A (p.Glu937=)
c.377G>A
c.4392G>A (p.Glu1464=)
c.*3410G>A (n.*3410G>A)
n.335G>A
n.489G>A
c.4599G>A (p.Glu1533=)
c.*2624G>A (n.*2624G>A)
c.4443G>A (p.Glu1481=)
n.4547G>A
c.2597G>A
c.3530G>A
c.3431G>A
c.*355G>A (n.*355G>A)
c.3416G>A
n.1336G>A
c.4521G>A (p.Glu1507=)
c.1396G>A
n.432G>A
c.3147G>A (p.Glu1049=)
c.4614G>A (p.Glu1538=)
c.4536G>A (p.Glu1512=)
c.2628G>A (p.Glu876=)
c.3651G>A (p.Glu1217=)
c.3429G>A (p.Glu1143=)
c.3414G>A (p.Glu1138=)
n.4706G>A
n.4691G>A
n.4743G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185300G>CCA389608250FANCMc.2811G>C (p.Glu937Asp)
c.377G>C
c.4392G>C (p.Glu1464Asp)
c.*3410G>C (n.*3410G>C)
n.335G>C
n.489G>C
c.4599G>C (p.Glu1533Asp)
c.*2624G>C (n.*2624G>C)
c.4443G>C (p.Glu1481Asp)
n.4547G>C
c.2597G>C
c.3530G>C
c.3431G>C
c.*355G>C (n.*355G>C)
c.3416G>C
n.1336G>C
c.4521G>C (p.Glu1507Asp)
c.1396G>C
n.432G>C
c.3147G>C (p.Glu1049Asp)
c.4614G>C (p.Glu1538Asp)
c.4536G>C (p.Glu1512Asp)
c.2628G>C (p.Glu876Asp)
c.3651G>C (p.Glu1217Asp)
c.3429G>C (p.Glu1143Asp)
c.3414G>C (p.Glu1138Asp)
n.4706G>C
n.4691G>C
n.4743G>C
 gnomAD v4
14g.45185300G=CA2133624524FANCMc.2811G= (p.Glu937=)
c.377G=
c.4392G= (p.Glu1464=)
c.*3410G= (n.*3410G=)
n.335G=
n.489G=
c.4599G= (p.Glu1533=)
c.*2624G= (n.*2624G=)
c.4443G= (p.Glu1481=)
n.4547G=
c.2597G=
c.3530G=
c.3431G=
c.*355G= (n.*355G=)
c.3416G=
n.1336G=
c.4521G= (p.Glu1507=)
c.1396G=
n.432G=
c.3147G= (p.Glu1049=)
c.4614G= (p.Glu1538=)
c.4536G= (p.Glu1512=)
c.2628G= (p.Glu876=)
c.3651G= (p.Glu1217=)
c.3429G= (p.Glu1143=)
c.3414G= (p.Glu1138=)
n.4706G=
n.4691G=
n.4743G=
14g.45185300G>TCA389608251FANCMc.2811G>T (p.Glu937Asp)
c.377G>T
c.4392G>T (p.Glu1464Asp)
c.*3410G>T (n.*3410G>T)
n.335G>T
n.489G>T
c.4599G>T (p.Glu1533Asp)
c.*2624G>T (n.*2624G>T)
c.4443G>T (p.Glu1481Asp)
n.4547G>T
c.2597G>T
c.3530G>T
c.3431G>T
c.*355G>T (n.*355G>T)
c.3416G>T
n.1336G>T
c.4521G>T (p.Glu1507Asp)
c.1396G>T
n.432G>T
c.3147G>T (p.Glu1049Asp)
c.4614G>T (p.Glu1538Asp)
c.4536G>T (p.Glu1512Asp)
c.2628G>T (p.Glu876Asp)
c.3651G>T (p.Glu1217Asp)
c.3429G>T (p.Glu1143Asp)
c.3414G>T (p.Glu1138Asp)
n.4706G>T
n.4691G>T
n.4743G>T
 gnomAD v4
14g.45185301T>ACA389608252FANCMc.2812T>A (p.Ser938Thr)
c.378T>A
c.4393T>A (p.Ser1465Thr)
c.*3411T>A (n.*3411T>A)
n.336T>A
n.490T>A
c.4600T>A (p.Ser1534Thr)
c.*2625T>A (n.*2625T>A)
c.4444T>A (p.Ser1482Thr)
n.4548T>A
c.2598T>A
c.3531T>A
c.3432T>A
c.*356T>A (n.*356T>A)
c.3417T>A
n.1337T>A
c.4522T>A (p.Ser1508Thr)
c.1397T>A
n.433T>A
c.3148T>A (p.Ser1050Thr)
c.4615T>A (p.Ser1539Thr)
c.4537T>A (p.Ser1513Thr)
c.2629T>A (p.Ser877Thr)
c.3652T>A (p.Ser1218Thr)
c.3430T>A (p.Ser1144Thr)
c.3415T>A (p.Ser1139Thr)
n.4707T>A
n.4692T>A
n.4744T>A
14g.45185301T>CCA389608253FANCMc.2812T>C (p.Ser938Pro)
c.378T>C
c.4393T>C (p.Ser1465Pro)
c.*3411T>C (n.*3411T>C)
n.336T>C
n.490T>C
c.4600T>C (p.Ser1534Pro)
c.*2625T>C (n.*2625T>C)
c.4444T>C (p.Ser1482Pro)
n.4548T>C
c.2598T>C
c.3531T>C
c.3432T>C
c.*356T>C (n.*356T>C)
c.3417T>C
n.1337T>C
c.4522T>C (p.Ser1508Pro)
c.1397T>C
n.433T>C
c.3148T>C (p.Ser1050Pro)
c.4615T>C (p.Ser1539Pro)
c.4537T>C (p.Ser1513Pro)
c.2629T>C (p.Ser877Pro)
c.3652T>C (p.Ser1218Pro)
c.3430T>C (p.Ser1144Pro)
c.3415T>C (p.Ser1139Pro)
n.4707T>C
n.4692T>C
n.4744T>C
 gnomAD v4
14g.45185301T>GCA389608254FANCMc.2812T>G (p.Ser938Ala)
c.378T>G
c.4393T>G (p.Ser1465Ala)
c.*3411T>G (n.*3411T>G)
n.336T>G
n.490T>G
c.4600T>G (p.Ser1534Ala)
c.*2625T>G (n.*2625T>G)
c.4444T>G (p.Ser1482Ala)
n.4548T>G
c.2598T>G
c.3531T>G
c.3432T>G
c.*356T>G (n.*356T>G)
c.3417T>G
n.1337T>G
c.4522T>G (p.Ser1508Ala)
c.1397T>G
n.433T>G
c.3148T>G (p.Ser1050Ala)
c.4615T>G (p.Ser1539Ala)
c.4537T>G (p.Ser1513Ala)
c.2629T>G (p.Ser877Ala)
c.3652T>G (p.Ser1218Ala)
c.3430T>G (p.Ser1144Ala)
c.3415T>G (p.Ser1139Ala)
n.4707T>G
n.4692T>G
n.4744T>G
14g.45185302C>ACA389608255FANCMc.2813C>A (p.Ser938Ter)
c.379C>A
c.4394C>A (p.Ser1465Ter)
c.*3412C>A (n.*3412C>A)
n.337C>A
n.491C>A
c.4601C>A (p.Ser1534Ter)
c.*2626C>A (n.*2626C>A)
c.4445C>A (p.Ser1482Ter)
n.4549C>A
c.2599C>A
c.3532C>A
c.3433C>A
c.*357C>A (n.*357C>A)
c.3418C>A
n.1338C>A
c.4523C>A (p.Ser1508Ter)
c.1398C>A
n.434C>A
c.3149C>A (p.Ser1050Ter)
c.4616C>A (p.Ser1539Ter)
c.4538C>A (p.Ser1513Ter)
c.2630C>A (p.Ser877Ter)
c.3653C>A (p.Ser1218Ter)
c.3431C>A (p.Ser1144Ter)
c.3416C>A (p.Ser1139Ter)
n.4708C>A
n.4693C>A
n.4745C>A
 ClinVar dbSNP gnomAD v4
14g.45185302C=CA2133624526FANCMc.2813C= (p.Ser938=)
c.379C=
c.4394C= (p.Ser1465=)
c.*3412C= (n.*3412C=)
n.337C=
n.491C=
c.4601C= (p.Ser1534=)
c.*2626C= (n.*2626C=)
c.4445C= (p.Ser1482=)
n.4549C=
c.2599C=
c.3532C=
c.3433C=
c.*357C= (n.*357C=)
c.3418C=
n.1338C=
c.4523C= (p.Ser1508=)
c.1398C=
n.434C=
c.3149C= (p.Ser1050=)
c.4616C= (p.Ser1539=)
c.4538C= (p.Ser1513=)
c.2630C= (p.Ser877=)
c.3653C= (p.Ser1218=)
c.3431C= (p.Ser1144=)
c.3416C= (p.Ser1139=)
n.4708C=
n.4693C=
n.4745C=
14g.45185302C>GCA389608256FANCMc.2813C>G (p.Ser938Ter)
c.379C>G
c.4394C>G (p.Ser1465Ter)
c.*3412C>G (n.*3412C>G)
n.337C>G
n.491C>G
c.4601C>G (p.Ser1534Ter)
c.*2626C>G (n.*2626C>G)
c.4445C>G (p.Ser1482Ter)
n.4549C>G
c.2599C>G
c.3532C>G
c.3433C>G
c.*357C>G (n.*357C>G)
c.3418C>G
n.1338C>G
c.4523C>G (p.Ser1508Ter)
c.1398C>G
n.434C>G
c.3149C>G (p.Ser1050Ter)
c.4616C>G (p.Ser1539Ter)
c.4538C>G (p.Ser1513Ter)
c.2630C>G (p.Ser877Ter)
c.3653C>G (p.Ser1218Ter)
c.3431C>G (p.Ser1144Ter)
c.3416C>G (p.Ser1139Ter)
n.4708C>G
n.4693C>G
n.4745C>G
14g.45185302C>TCA389608257FANCMc.2813C>T (p.Ser938Leu)
c.379C>T
c.4394C>T (p.Ser1465Leu)
c.*3412C>T (n.*3412C>T)
n.337C>T
n.491C>T
c.4601C>T (p.Ser1534Leu)
c.*2626C>T (n.*2626C>T)
c.4445C>T (p.Ser1482Leu)
n.4549C>T
c.2599C>T
c.3532C>T
c.3433C>T
c.*357C>T (n.*357C>T)
c.3418C>T
n.1338C>T
c.4523C>T (p.Ser1508Leu)
c.1398C>T
n.434C>T
c.3149C>T (p.Ser1050Leu)
c.4616C>T (p.Ser1539Leu)
c.4538C>T (p.Ser1513Leu)
c.2630C>T (p.Ser877Leu)
c.3653C>T (p.Ser1218Leu)
c.3431C>T (p.Ser1144Leu)
c.3416C>T (p.Ser1139Leu)
n.4708C>T
n.4693C>T
n.4745C>T
14g.45185303A>CCA486141378FANCMc.2814A>C (p.Ser938=)
c.380A>C
c.4395A>C (p.Ser1465=)
c.*3413A>C (n.*3413A>C)
n.338A>C
n.492A>C
c.4602A>C (p.Ser1534=)
c.*2627A>C (n.*2627A>C)
c.4446A>C (p.Ser1482=)
n.4550A>C
c.2600A>C
c.3533A>C
c.3434A>C
c.*358A>C (n.*358A>C)
c.3419A>C
n.1339A>C
c.4524A>C (p.Ser1508=)
c.1399A>C
n.435A>C
c.3150A>C (p.Ser1050=)
c.4617A>C (p.Ser1539=)
c.4539A>C (p.Ser1513=)
c.2631A>C (p.Ser877=)
c.3654A>C (p.Ser1218=)
c.3432A>C (p.Ser1144=)
c.3417A>C (p.Ser1139=)
n.4709A>C
n.4694A>C
n.4746A>C
14g.45185303A>GCA486141379FANCMc.2814A>G (p.Ser938=)
c.380A>G
c.4395A>G (p.Ser1465=)
c.*3413A>G (n.*3413A>G)
n.338A>G
n.492A>G
c.4602A>G (p.Ser1534=)
c.*2627A>G (n.*2627A>G)
c.4446A>G (p.Ser1482=)
n.4550A>G
c.2600A>G
c.3533A>G
c.3434A>G
c.*358A>G (n.*358A>G)
c.3419A>G
n.1339A>G
c.4524A>G (p.Ser1508=)
c.1399A>G
n.435A>G
c.3150A>G (p.Ser1050=)
c.4617A>G (p.Ser1539=)
c.4539A>G (p.Ser1513=)
c.2631A>G (p.Ser877=)
c.3654A>G (p.Ser1218=)
c.3432A>G (p.Ser1144=)
c.3417A>G (p.Ser1139=)
n.4709A>G
n.4694A>G
n.4746A>G
14g.45185303A>TCA486141377FANCMc.2814A>T (p.Ser938=)
c.380A>T
c.4395A>T (p.Ser1465=)
c.*3413A>T (n.*3413A>T)
n.338A>T
n.492A>T
c.4602A>T (p.Ser1534=)
c.*2627A>T (n.*2627A>T)
c.4446A>T (p.Ser1482=)
n.4550A>T
c.2600A>T
c.3533A>T
c.3434A>T
c.*358A>T (n.*358A>T)
c.3419A>T
n.1339A>T
c.4524A>T (p.Ser1508=)
c.1399A>T
n.435A>T
c.3150A>T (p.Ser1050=)
c.4617A>T (p.Ser1539=)
c.4539A>T (p.Ser1513=)
c.2631A>T (p.Ser877=)
c.3654A>T (p.Ser1218=)
c.3432A>T (p.Ser1144=)
c.3417A>T (p.Ser1139=)
n.4709A>T
n.4694A>T
n.4746A>T
14g.45185304G>ACA7169801FANCMc.2815G>A (p.Glu939Lys)
c.381G>A
c.4396G>A (p.Glu1466Lys)
c.*3414G>A (n.*3414G>A)
n.339G>A
n.493G>A
c.4603G>A (p.Glu1535Lys)
c.*2628G>A (n.*2628G>A)
c.4447G>A (p.Glu1483Lys)
n.4551G>A
c.2601G>A
c.3534G>A
c.3435G>A
c.*359G>A (n.*359G>A)
c.3420G>A
n.1340G>A
c.4525G>A (p.Glu1509Lys)
c.1400G>A
n.436G>A
c.3151G>A (p.Glu1051Lys)
c.4618G>A (p.Glu1540Lys)
c.4540G>A (p.Glu1514Lys)
c.2632G>A (p.Glu878Lys)
c.3655G>A (p.Glu1219Lys)
c.3433G>A (p.Glu1145Lys)
c.3418G>A (p.Glu1140Lys)
n.4710G>A
n.4695G>A
n.4747G>A
 dbSNP ExAC
14g.45185304G>CCA389608258FANCMc.2815G>C (p.Glu939Gln)
c.381G>C
c.4396G>C (p.Glu1466Gln)
c.*3414G>C (n.*3414G>C)
n.339G>C
n.493G>C
c.4603G>C (p.Glu1535Gln)
c.*2628G>C (n.*2628G>C)
c.4447G>C (p.Glu1483Gln)
n.4551G>C
c.2601G>C
c.3534G>C
c.3435G>C
c.*359G>C (n.*359G>C)
c.3420G>C
n.1340G>C
c.4525G>C (p.Glu1509Gln)
c.1400G>C
n.436G>C
c.3151G>C (p.Glu1051Gln)
c.4618G>C (p.Glu1540Gln)
c.4540G>C (p.Glu1514Gln)
c.2632G>C (p.Glu878Gln)
c.3655G>C (p.Glu1219Gln)
c.3433G>C (p.Glu1145Gln)
c.3418G>C (p.Glu1140Gln)
n.4710G>C
n.4695G>C
n.4747G>C
 ClinVar
14g.45185304G=CA2133624529FANCMc.2815G= (p.Glu939=)
c.381G=
c.4396G= (p.Glu1466=)
c.*3414G= (n.*3414G=)
n.339G=
n.493G=
c.4603G= (p.Glu1535=)
c.*2628G= (n.*2628G=)
c.4447G= (p.Glu1483=)
n.4551G=
c.2601G=
c.3534G=
c.3435G=
c.*359G= (n.*359G=)
c.3420G=
n.1340G=
c.4525G= (p.Glu1509=)
c.1400G=
n.436G=
c.3151G= (p.Glu1051=)
c.4618G= (p.Glu1540=)
c.4540G= (p.Glu1514=)
c.2632G= (p.Glu878=)
c.3655G= (p.Glu1219=)
c.3433G= (p.Glu1145=)
c.3418G= (p.Glu1140=)
n.4710G=
n.4695G=
n.4747G=
14g.45185304G>TCA389608259FANCMc.2815G>T (p.Glu939Ter)
c.381G>T
c.4396G>T (p.Glu1466Ter)
c.*3414G>T (n.*3414G>T)
n.339G>T
n.493G>T
c.4603G>T (p.Glu1535Ter)
c.*2628G>T (n.*2628G>T)
c.4447G>T (p.Glu1483Ter)
n.4551G>T
c.2601G>T
c.3534G>T
c.3435G>T
c.*359G>T (n.*359G>T)
c.3420G>T
n.1340G>T
c.4525G>T (p.Glu1509Ter)
c.1400G>T
n.436G>T
c.3151G>T (p.Glu1051Ter)
c.4618G>T (p.Glu1540Ter)
c.4540G>T (p.Glu1514Ter)
c.2632G>T (p.Glu878Ter)
c.3655G>T (p.Glu1219Ter)
c.3433G>T (p.Glu1145Ter)
c.3418G>T (p.Glu1140Ter)
n.4710G>T
n.4695G>T
n.4747G>T
14g.45185305A=CA2133624531FANCMc.2816A= (p.Glu939=)
c.382A=
c.4397A= (p.Glu1466=)
c.*3415A= (n.*3415A=)
n.340A=
n.494A=
c.4604A= (p.Glu1535=)
c.*2629A= (n.*2629A=)
c.4448A= (p.Glu1483=)
n.4552A=
c.2602A=
c.3535A=
c.3436A=
c.*360A= (n.*360A=)
c.3421A=
n.1341A=
c.4526A= (p.Glu1509=)
c.1401A=
n.437A=
c.3152A= (p.Glu1051=)
c.4619A= (p.Glu1540=)
c.4541A= (p.Glu1514=)
c.2633A= (p.Glu878=)
c.3656A= (p.Glu1219=)
c.3434A= (p.Glu1145=)
c.3419A= (p.Glu1140=)
n.4711A=
n.4696A=
n.4748A=
14g.45185305A>CCA389608260FANCMc.2816A>C (p.Glu939Ala)
c.382A>C
c.4397A>C (p.Glu1466Ala)
c.*3415A>C (n.*3415A>C)
n.340A>C
n.494A>C
c.4604A>C (p.Glu1535Ala)
c.*2629A>C (n.*2629A>C)
c.4448A>C (p.Glu1483Ala)
n.4552A>C
c.2602A>C
c.3535A>C
c.3436A>C
c.*360A>C (n.*360A>C)
c.3421A>C
n.1341A>C
c.4526A>C (p.Glu1509Ala)
c.1401A>C
n.437A>C
c.3152A>C (p.Glu1051Ala)
c.4619A>C (p.Glu1540Ala)
c.4541A>C (p.Glu1514Ala)
c.2633A>C (p.Glu878Ala)
c.3656A>C (p.Glu1219Ala)
c.3434A>C (p.Glu1145Ala)
c.3419A>C (p.Glu1140Ala)
n.4711A>C
n.4696A>C
n.4748A>C
14g.45185305A>GCA7169802FANCMc.2816A>G (p.Glu939Gly)
c.382A>G
c.4397A>G (p.Glu1466Gly)
c.*3415A>G (n.*3415A>G)
n.340A>G
n.494A>G
c.4604A>G (p.Glu1535Gly)
c.*2629A>G (n.*2629A>G)
c.4448A>G (p.Glu1483Gly)
n.4552A>G
c.2602A>G
c.3535A>G
c.3436A>G
c.*360A>G (n.*360A>G)
c.3421A>G
n.1341A>G
c.4526A>G (p.Glu1509Gly)
c.1401A>G
n.437A>G
c.3152A>G (p.Glu1051Gly)
c.4619A>G (p.Glu1540Gly)
c.4541A>G (p.Glu1514Gly)
c.2633A>G (p.Glu878Gly)
c.3656A>G (p.Glu1219Gly)
c.3434A>G (p.Glu1145Gly)
c.3419A>G (p.Glu1140Gly)
n.4711A>G
n.4696A>G
n.4748A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185305A>TCA389608261FANCMc.2816A>T (p.Glu939Val)
c.382A>T
c.4397A>T (p.Glu1466Val)
c.*3415A>T (n.*3415A>T)
n.340A>T
n.494A>T
c.4604A>T (p.Glu1535Val)
c.*2629A>T (n.*2629A>T)
c.4448A>T (p.Glu1483Val)
n.4552A>T
c.2602A>T
c.3535A>T
c.3436A>T
c.*360A>T (n.*360A>T)
c.3421A>T
n.1341A>T
c.4526A>T (p.Glu1509Val)
c.1401A>T
n.437A>T
c.3152A>T (p.Glu1051Val)
c.4619A>T (p.Glu1540Val)
c.4541A>T (p.Glu1514Val)
c.2633A>T (p.Glu878Val)
c.3656A>T (p.Glu1219Val)
c.3434A>T (p.Glu1145Val)
c.3419A>T (p.Glu1140Val)
n.4711A>T
n.4696A>T
n.4748A>T
14g.45185308dupCA2801411017FANCMc.2819dup (p.Asn940LysfsTer2)
c.385dup
c.4400dup (p.Asn1467LysfsTer2)
c.*3418dup (n.*3418dup)
n.343dup
n.497dup
c.4607dup (p.Asn1536LysfsTer2)
c.*2632dup (n.*2632dup)
c.4451dup (p.Asn1484LysfsTer2)
n.4555dup
c.2605dup
c.3538dup
c.3439dup
c.*363dup (n.*363dup)
c.3424dup
n.1344dup
c.4529dup (p.Asn1510LysfsTer2)
c.1404dup
n.440dup
c.3155dup (p.Asn1052LysfsTer2)
c.4622dup (p.Asn1541LysfsTer2)
c.4544dup (p.Asn1515LysfsTer2)
c.2636dup (p.Asn879LysfsTer2)
c.3659dup (p.Asn1220LysfsTer2)
c.3437dup (p.Asn1146LysfsTer2)
c.3422dup (p.Asn1141LysfsTer2)
n.4714dup
n.4699dup
n.4751dup
14g.45185306A>CCA389608262FANCMc.2817A>C (p.Glu939Asp)
c.383A>C
c.4398A>C (p.Glu1466Asp)
c.*3416A>C (n.*3416A>C)
n.341A>C
n.495A>C
c.4605A>C (p.Glu1535Asp)
c.*2630A>C (n.*2630A>C)
c.4449A>C (p.Glu1483Asp)
n.4553A>C
c.2603A>C
c.3536A>C
c.3437A>C
c.*361A>C (n.*361A>C)
c.3422A>C
n.1342A>C
c.4527A>C (p.Glu1509Asp)
c.1402A>C
n.438A>C
c.3153A>C (p.Glu1051Asp)
c.4620A>C (p.Glu1540Asp)
c.4542A>C (p.Glu1514Asp)
c.2634A>C (p.Glu878Asp)
c.3657A>C (p.Glu1219Asp)
c.3435A>C (p.Glu1145Asp)
c.3420A>C (p.Glu1140Asp)
n.4712A>C
n.4697A>C
n.4749A>C
14g.45185306A>GCA486141380FANCMc.2817A>G (p.Glu939=)
c.383A>G
c.4398A>G (p.Glu1466=)
c.*3416A>G (n.*3416A>G)
n.341A>G
n.495A>G
c.4605A>G (p.Glu1535=)
c.*2630A>G (n.*2630A>G)
c.4449A>G (p.Glu1483=)
n.4553A>G
c.2603A>G
c.3536A>G
c.3437A>G
c.*361A>G (n.*361A>G)
c.3422A>G
n.1342A>G
c.4527A>G (p.Glu1509=)
c.1402A>G
n.438A>G
c.3153A>G (p.Glu1051=)
c.4620A>G (p.Glu1540=)
c.4542A>G (p.Glu1514=)
c.2634A>G (p.Glu878=)
c.3657A>G (p.Glu1219=)
c.3435A>G (p.Glu1145=)
c.3420A>G (p.Glu1140=)
n.4712A>G
n.4697A>G
n.4749A>G
14g.45185306A>TCA389608263FANCMc.2817A>T (p.Glu939Asp)
c.383A>T
c.4398A>T (p.Glu1466Asp)
c.*3416A>T (n.*3416A>T)
n.341A>T
n.495A>T
c.4605A>T (p.Glu1535Asp)
c.*2630A>T (n.*2630A>T)
c.4449A>T (p.Glu1483Asp)
n.4553A>T
c.2603A>T
c.3536A>T
c.3437A>T
c.*361A>T (n.*361A>T)
c.3422A>T
n.1342A>T
c.4527A>T (p.Glu1509Asp)
c.1402A>T
n.438A>T
c.3153A>T (p.Glu1051Asp)
c.4620A>T (p.Glu1540Asp)
c.4542A>T (p.Glu1514Asp)
c.2634A>T (p.Glu878Asp)
c.3657A>T (p.Glu1219Asp)
c.3435A>T (p.Glu1145Asp)
c.3420A>T (p.Glu1140Asp)
n.4712A>T
n.4697A>T
n.4749A>T
14g.45185307A=CA2133624533FANCMc.2818A= (p.Asn940=)
c.384A=
c.4399A= (p.Asn1467=)
c.*3417A= (n.*3417A=)
n.342A=
n.496A=
c.4606A= (p.Asn1536=)
c.*2631A= (n.*2631A=)
c.4450A= (p.Asn1484=)
n.4554A=
c.2604A=
c.3537A=
c.3438A=
c.*362A= (n.*362A=)
c.3423A=
n.1343A=
c.4528A= (p.Asn1510=)
c.1403A=
n.439A=
c.3154A= (p.Asn1052=)
c.4621A= (p.Asn1541=)
c.4543A= (p.Asn1515=)
c.2635A= (p.Asn879=)
c.3658A= (p.Asn1220=)
c.3436A= (p.Asn1146=)
c.3421A= (p.Asn1141=)
n.4713A=
n.4698A=
n.4750A=
14g.45185307A>CCA389608264FANCMc.2818A>C (p.Asn940His)
c.384A>C
c.4399A>C (p.Asn1467His)
c.*3417A>C (n.*3417A>C)
n.342A>C
n.496A>C
c.4606A>C (p.Asn1536His)
c.*2631A>C (n.*2631A>C)
c.4450A>C (p.Asn1484His)
n.4554A>C
c.2604A>C
c.3537A>C
c.3438A>C
c.*362A>C (n.*362A>C)
c.3423A>C
n.1343A>C
c.4528A>C (p.Asn1510His)
c.1403A>C
n.439A>C
c.3154A>C (p.Asn1052His)
c.4621A>C (p.Asn1541His)
c.4543A>C (p.Asn1515His)
c.2635A>C (p.Asn879His)
c.3658A>C (p.Asn1220His)
c.3436A>C (p.Asn1146His)
c.3421A>C (p.Asn1141His)
n.4713A>C
n.4698A>C
n.4750A>C
14g.45185307A>GCA7169803FANCMc.2818A>G (p.Asn940Asp)
c.384A>G
c.4399A>G (p.Asn1467Asp)
c.*3417A>G (n.*3417A>G)
n.342A>G
n.496A>G
c.4606A>G (p.Asn1536Asp)
c.*2631A>G (n.*2631A>G)
c.4450A>G (p.Asn1484Asp)
n.4554A>G
c.2604A>G
c.3537A>G
c.3438A>G
c.*362A>G (n.*362A>G)
c.3423A>G
n.1343A>G
c.4528A>G (p.Asn1510Asp)
c.1403A>G
n.439A>G
c.3154A>G (p.Asn1052Asp)
c.4621A>G (p.Asn1541Asp)
c.4543A>G (p.Asn1515Asp)
c.2635A>G (p.Asn879Asp)
c.3658A>G (p.Asn1220Asp)
c.3436A>G (p.Asn1146Asp)
c.3421A>G (p.Asn1141Asp)
n.4713A>G
n.4698A>G
n.4750A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185307A>TCA389608265FANCMc.2818A>T (p.Asn940Tyr)
c.384A>T
c.4399A>T (p.Asn1467Tyr)
c.*3417A>T (n.*3417A>T)
n.342A>T
n.496A>T
c.4606A>T (p.Asn1536Tyr)
c.*2631A>T (n.*2631A>T)
c.4450A>T (p.Asn1484Tyr)
n.4554A>T
c.2604A>T
c.3537A>T
c.3438A>T
c.*362A>T (n.*362A>T)
c.3423A>T
n.1343A>T
c.4528A>T (p.Asn1510Tyr)
c.1403A>T
n.439A>T
c.3154A>T (p.Asn1052Tyr)
c.4621A>T (p.Asn1541Tyr)
c.4543A>T (p.Asn1515Tyr)
c.2635A>T (p.Asn879Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3436A>T (p.Asn1146Tyr)
c.3421A>T (p.Asn1141Tyr)
n.4713A>T
n.4698A>T
n.4750A>T
14g.45185308A>CCA389608266FANCMc.2819A>C (p.Asn940Thr)
c.385A>C
c.4400A>C (p.Asn1467Thr)
c.*3418A>C (n.*3418A>C)
n.343A>C
n.497A>C
c.4607A>C (p.Asn1536Thr)
c.*2632A>C (n.*2632A>C)
c.4451A>C (p.Asn1484Thr)
n.4555A>C
c.2605A>C
c.3538A>C
c.3439A>C
c.*363A>C (n.*363A>C)
c.3424A>C
n.1344A>C
c.4529A>C (p.Asn1510Thr)
c.1404A>C
n.440A>C
c.3155A>C (p.Asn1052Thr)
c.4622A>C (p.Asn1541Thr)
c.4544A>C (p.Asn1515Thr)
c.2636A>C (p.Asn879Thr)
c.3659A>C (p.Asn1220Thr)
c.3437A>C (p.Asn1146Thr)
c.3422A>C (p.Asn1141Thr)
n.4714A>C
n.4699A>C
n.4751A>C
14g.45185308A>GCA389608267FANCMc.2819A>G (p.Asn940Ser)
c.385A>G
c.4400A>G (p.Asn1467Ser)
c.*3418A>G (n.*3418A>G)
n.343A>G
n.497A>G
c.4607A>G (p.Asn1536Ser)
c.*2632A>G (n.*2632A>G)
c.4451A>G (p.Asn1484Ser)
n.4555A>G
c.2605A>G
c.3538A>G
c.3439A>G
c.*363A>G (n.*363A>G)
c.3424A>G
n.1344A>G
c.4529A>G (p.Asn1510Ser)
c.1404A>G
n.440A>G
c.3155A>G (p.Asn1052Ser)
c.4622A>G (p.Asn1541Ser)
c.4544A>G (p.Asn1515Ser)
c.2636A>G (p.Asn879Ser)
c.3659A>G (p.Asn1220Ser)
c.3437A>G (p.Asn1146Ser)
c.3422A>G (p.Asn1141Ser)
n.4714A>G
n.4699A>G
n.4751A>G
14g.45185308A>TCA389608268FANCMc.2819A>T (p.Asn940Ile)
c.385A>T
c.4400A>T (p.Asn1467Ile)
c.*3418A>T (n.*3418A>T)
n.343A>T
n.497A>T
c.4607A>T (p.Asn1536Ile)
c.*2632A>T (n.*2632A>T)
c.4451A>T (p.Asn1484Ile)
n.4555A>T
c.2605A>T
c.3538A>T
c.3439A>T
c.*363A>T (n.*363A>T)
c.3424A>T
n.1344A>T
c.4529A>T (p.Asn1510Ile)
c.1404A>T
n.440A>T
c.3155A>T (p.Asn1052Ile)
c.4622A>T (p.Asn1541Ile)
c.4544A>T (p.Asn1515Ile)
c.2636A>T (p.Asn879Ile)
c.3659A>T (p.Asn1220Ile)
c.3437A>T (p.Asn1146Ile)
c.3422A>T (p.Asn1141Ile)
n.4714A>T
n.4699A>T
n.4751A>T
14g.45185309delCA2575516376FANCMc.2820del (p.Asn940LysfsTer11)
c.386del
c.4401del (p.Asn1467LysfsTer11)
c.*3419del (n.*3419del)
n.344del
n.498del
c.4608del (p.Asn1536LysfsTer11)
c.*2633del (n.*2633del)
c.4452del (p.Asn1484LysfsTer11)
n.4556del
c.2606del
c.3539del
c.3440del
c.*364del (n.*364del)
c.3425del
n.1345del
c.4530del (p.Asn1510LysfsTer11)
c.1405del
n.441del
c.3156del (p.Asn1052LysfsTer11)
c.4623del (p.Asn1541LysfsTer11)
c.4545del (p.Asn1515LysfsTer11)
c.2637del (p.Asn879LysfsTer11)
c.3660del (p.Asn1220LysfsTer11)
c.3438del (p.Asn1146LysfsTer11)
c.3423del (p.Asn1141LysfsTer11)
n.4715del
n.4700del
n.4752del
14g.45185309T>ACA389608269FANCMc.2820T>A (p.Asn940Lys)
c.386T>A
c.4401T>A (p.Asn1467Lys)
c.*3419T>A (n.*3419T>A)
n.344T>A
n.498T>A
c.4608T>A (p.Asn1536Lys)
c.*2633T>A (n.*2633T>A)
c.4452T>A (p.Asn1484Lys)
n.4556T>A
c.2606T>A
c.3539T>A
c.3440T>A
c.*364T>A (n.*364T>A)
c.3425T>A
n.1345T>A
c.4530T>A (p.Asn1510Lys)
c.1405T>A
n.441T>A
c.3156T>A (p.Asn1052Lys)
c.4623T>A (p.Asn1541Lys)
c.4545T>A (p.Asn1515Lys)
c.2637T>A (p.Asn879Lys)
c.3660T>A (p.Asn1220Lys)
c.3438T>A (p.Asn1146Lys)
c.3423T>A (p.Asn1141Lys)
n.4715T>A
n.4700T>A
n.4752T>A
14g.45185309T>CCA486141383FANCMc.2820T>C (p.Asn940=)
c.386T>C
c.4401T>C (p.Asn1467=)
c.*3419T>C (n.*3419T>C)
n.344T>C
n.498T>C
c.4608T>C (p.Asn1536=)
c.*2633T>C (n.*2633T>C)
c.4452T>C (p.Asn1484=)
n.4556T>C
c.2606T>C
c.3539T>C
c.3440T>C
c.*364T>C (n.*364T>C)
c.3425T>C
n.1345T>C
c.4530T>C (p.Asn1510=)
c.1405T>C
n.441T>C
c.3156T>C (p.Asn1052=)
c.4623T>C (p.Asn1541=)
c.4545T>C (p.Asn1515=)
c.2637T>C (p.Asn879=)
c.3660T>C (p.Asn1220=)
c.3438T>C (p.Asn1146=)
c.3423T>C (p.Asn1141=)
n.4715T>C
n.4700T>C
n.4752T>C
 ClinVar gnomAD v4
14g.45185309T>GCA389608270FANCMc.2820T>G (p.Asn940Lys)
c.386T>G
c.4401T>G (p.Asn1467Lys)
c.*3419T>G (n.*3419T>G)
n.344T>G
n.498T>G
c.4608T>G (p.Asn1536Lys)
c.*2633T>G (n.*2633T>G)
c.4452T>G (p.Asn1484Lys)
n.4556T>G
c.2606T>G
c.3539T>G
c.3440T>G
c.*364T>G (n.*364T>G)
c.3425T>G
n.1345T>G
c.4530T>G (p.Asn1510Lys)
c.1405T>G
n.441T>G
c.3156T>G (p.Asn1052Lys)
c.4623T>G (p.Asn1541Lys)
c.4545T>G (p.Asn1515Lys)
c.2637T>G (p.Asn879Lys)
c.3660T>G (p.Asn1220Lys)
c.3438T>G (p.Asn1146Lys)
c.3423T>G (p.Asn1141Lys)
n.4715T>G
n.4700T>G
n.4752T>G
14g.45185310G>ACA389608271FANCMc.2821G>A (p.Glu941Lys)
c.387G>A
c.4402G>A (p.Glu1468Lys)
c.*3420G>A (n.*3420G>A)
n.345G>A
n.499G>A
c.4609G>A (p.Glu1537Lys)
c.*2634G>A (n.*2634G>A)
c.4453G>A (p.Glu1485Lys)
n.4557G>A
c.2607G>A
c.3540G>A
c.3441G>A
c.*365G>A (n.*365G>A)
c.3426G>A
n.1346G>A
c.4531G>A (p.Glu1511Lys)
c.1406G>A
n.442G>A
c.3157G>A (p.Glu1053Lys)
c.4624G>A (p.Glu1542Lys)
c.4546G>A (p.Glu1516Lys)
c.2638G>A (p.Glu880Lys)
c.3661G>A (p.Glu1221Lys)
c.3439G>A (p.Glu1147Lys)
c.3424G>A (p.Glu1142Lys)
n.4716G>A
n.4701G>A
n.4753G>A
14g.45185310G>CCA389608272FANCMc.2821G>C (p.Glu941Gln)
c.387G>C
c.4402G>C (p.Glu1468Gln)
c.*3420G>C (n.*3420G>C)
n.345G>C
n.499G>C
c.4609G>C (p.Glu1537Gln)
c.*2634G>C (n.*2634G>C)
c.4453G>C (p.Glu1485Gln)
n.4557G>C
c.2607G>C
c.3540G>C
c.3441G>C
c.*365G>C (n.*365G>C)
c.3426G>C
n.1346G>C
c.4531G>C (p.Glu1511Gln)
c.1406G>C
n.442G>C
c.3157G>C (p.Glu1053Gln)
c.4624G>C (p.Glu1542Gln)
c.4546G>C (p.Glu1516Gln)
c.2638G>C (p.Glu880Gln)
c.3661G>C (p.Glu1221Gln)
c.3439G>C (p.Glu1147Gln)
c.3424G>C (p.Glu1142Gln)
n.4716G>C
n.4701G>C
n.4753G>C
14g.45185310G=CA2133624536FANCMc.2821G= (p.Glu941=)
c.387G=
c.4402G= (p.Glu1468=)
c.*3420G= (n.*3420G=)
n.345G=
n.499G=
c.4609G= (p.Glu1537=)
c.*2634G= (n.*2634G=)
c.4453G= (p.Glu1485=)
n.4557G=
c.2607G=
c.3540G=
c.3441G=
c.*365G= (n.*365G=)
c.3426G=
n.1346G=
c.4531G= (p.Glu1511=)
c.1406G=
n.442G=
c.3157G= (p.Glu1053=)
c.4624G= (p.Glu1542=)
c.4546G= (p.Glu1516=)
c.2638G= (p.Glu880=)
c.3661G= (p.Glu1221=)
c.3439G= (p.Glu1147=)
c.3424G= (p.Glu1142=)
n.4716G=
n.4701G=
n.4753G=
14g.45185310G>TCA7169804FANCMc.2821G>T (p.Glu941Ter)
c.387G>T
c.4402G>T (p.Glu1468Ter)
c.*3420G>T (n.*3420G>T)
n.345G>T
n.499G>T
c.4609G>T (p.Glu1537Ter)
c.*2634G>T (n.*2634G>T)
c.4453G>T (p.Glu1485Ter)
n.4557G>T
c.2607G>T
c.3540G>T
c.3441G>T
c.*365G>T (n.*365G>T)
c.3426G>T
n.1346G>T
c.4531G>T (p.Glu1511Ter)
c.1406G>T
n.442G>T
c.3157G>T (p.Glu1053Ter)
c.4624G>T (p.Glu1542Ter)
c.4546G>T (p.Glu1516Ter)
c.2638G>T (p.Glu880Ter)
c.3661G>T (p.Glu1221Ter)
c.3439G>T (p.Glu1147Ter)
c.3424G>T (p.Glu1142Ter)
n.4716G>T
n.4701G>T
n.4753G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185311A>CCA389608273FANCMc.2822A>C (p.Glu941Ala)
c.388A>C
c.4403A>C (p.Glu1468Ala)
c.*3421A>C (n.*3421A>C)
n.346A>C
n.500A>C
c.4610A>C (p.Glu1537Ala)
c.*2635A>C (n.*2635A>C)
c.4454A>C (p.Glu1485Ala)
n.4558A>C
c.2608A>C
c.3541A>C
c.3442A>C
c.*366A>C (n.*366A>C)
c.3427A>C
n.1347A>C
c.4532A>C (p.Glu1511Ala)
c.1407A>C
n.443A>C
c.3158A>C (p.Glu1053Ala)
c.4625A>C (p.Glu1542Ala)
c.4547A>C (p.Glu1516Ala)
c.2639A>C (p.Glu880Ala)
c.3662A>C (p.Glu1221Ala)
c.3440A>C (p.Glu1147Ala)
c.3425A>C (p.Glu1142Ala)
n.4717A>C
n.4702A>C
n.4754A>C
14g.45185311A>GCA389608274FANCMc.2822A>G (p.Glu941Gly)
c.388A>G
c.4403A>G (p.Glu1468Gly)
c.*3421A>G (n.*3421A>G)
n.346A>G
n.500A>G
c.4610A>G (p.Glu1537Gly)
c.*2635A>G (n.*2635A>G)
c.4454A>G (p.Glu1485Gly)
n.4558A>G
c.2608A>G
c.3541A>G
c.3442A>G
c.*366A>G (n.*366A>G)
c.3427A>G
n.1347A>G
c.4532A>G (p.Glu1511Gly)
c.1407A>G
n.443A>G
c.3158A>G (p.Glu1053Gly)
c.4625A>G (p.Glu1542Gly)
c.4547A>G (p.Glu1516Gly)
c.2639A>G (p.Glu880Gly)
c.3662A>G (p.Glu1221Gly)
c.3440A>G (p.Glu1147Gly)
c.3425A>G (p.Glu1142Gly)
n.4717A>G
n.4702A>G
n.4754A>G
14g.45185311A>TCA389608275FANCMc.2822A>T (p.Glu941Val)
c.388A>T
c.4403A>T (p.Glu1468Val)
c.*3421A>T (n.*3421A>T)
n.346A>T
n.500A>T
c.4610A>T (p.Glu1537Val)
c.*2635A>T (n.*2635A>T)
c.4454A>T (p.Glu1485Val)
n.4558A>T
c.2608A>T
c.3541A>T
c.3442A>T
c.*366A>T (n.*366A>T)
c.3427A>T
n.1347A>T
c.4532A>T (p.Glu1511Val)
c.1407A>T
n.443A>T
c.3158A>T (p.Glu1053Val)
c.4625A>T (p.Glu1542Val)
c.4547A>T (p.Glu1516Val)
c.2639A>T (p.Glu880Val)
c.3662A>T (p.Glu1221Val)
c.3440A>T (p.Glu1147Val)
c.3425A>T (p.Glu1142Val)
n.4717A>T
n.4702A>T
n.4754A>T
 gnomAD v4
14g.45185312A=CA2133624538FANCMc.2823A= (p.Glu941=)
c.389A=
c.4404A= (p.Glu1468=)
c.*3422A= (n.*3422A=)
n.347A=
n.501A=
c.4611A= (p.Glu1537=)
c.*2636A= (n.*2636A=)
c.4455A= (p.Glu1485=)
n.4559A=
c.2609A=
c.3542A=
c.3443A=
c.*367A= (n.*367A=)
c.3428A=
n.1348A=
c.4533A= (p.Glu1511=)
c.1408A=
n.444A=
c.3159A= (p.Glu1053=)
c.4626A= (p.Glu1542=)
c.4548A= (p.Glu1516=)
c.2640A= (p.Glu880=)
c.3663A= (p.Glu1221=)
c.3441A= (p.Glu1147=)
c.3426A= (p.Glu1142=)
n.4718A=
n.4703A=
n.4755A=
14g.45185312A>CCA389608277FANCMc.2823A>C (p.Glu941Asp)
c.389A>C
c.4404A>C (p.Glu1468Asp)
c.*3422A>C (n.*3422A>C)
n.347A>C
n.501A>C
c.4611A>C (p.Glu1537Asp)
c.*2636A>C (n.*2636A>C)
c.4455A>C (p.Glu1485Asp)
n.4559A>C
c.2609A>C
c.3542A>C
c.3443A>C
c.*367A>C (n.*367A>C)
c.3428A>C
n.1348A>C
c.4533A>C (p.Glu1511Asp)
c.1408A>C
n.444A>C
c.3159A>C (p.Glu1053Asp)
c.4626A>C (p.Glu1542Asp)
c.4548A>C (p.Glu1516Asp)
c.2640A>C (p.Glu880Asp)
c.3663A>C (p.Glu1221Asp)
c.3441A>C (p.Glu1147Asp)
c.3426A>C (p.Glu1142Asp)
n.4718A>C
n.4703A>C
n.4755A>C
14g.45185312A>GCA486141385FANCMc.2823A>G (p.Glu941=)
c.389A>G
c.4404A>G (p.Glu1468=)
c.*3422A>G (n.*3422A>G)
n.347A>G
n.501A>G
c.4611A>G (p.Glu1537=)
c.*2636A>G (n.*2636A>G)
c.4455A>G (p.Glu1485=)
n.4559A>G
c.2609A>G
c.3542A>G
c.3443A>G
c.*367A>G (n.*367A>G)
c.3428A>G
n.1348A>G
c.4533A>G (p.Glu1511=)
c.1408A>G
n.444A>G
c.3159A>G (p.Glu1053=)
c.4626A>G (p.Glu1542=)
c.4548A>G (p.Glu1516=)
c.2640A>G (p.Glu880=)
c.3663A>G (p.Glu1221=)
c.3441A>G (p.Glu1147=)
c.3426A>G (p.Glu1142=)
n.4718A>G
n.4703A>G
n.4755A>G
14g.45185312A>TCA389608276FANCMc.2823A>T (p.Glu941Asp)
c.389A>T
c.4404A>T (p.Glu1468Asp)
c.*3422A>T (n.*3422A>T)
n.347A>T
n.501A>T
c.4611A>T (p.Glu1537Asp)
c.*2636A>T (n.*2636A>T)
c.4455A>T (p.Glu1485Asp)
n.4559A>T
c.2609A>T
c.3542A>T
c.3443A>T
c.*367A>T (n.*367A>T)
c.3428A>T
n.1348A>T
c.4533A>T (p.Glu1511Asp)
c.1408A>T
n.444A>T
c.3159A>T (p.Glu1053Asp)
c.4626A>T (p.Glu1542Asp)
c.4548A>T (p.Glu1516Asp)
c.2640A>T (p.Glu880Asp)
c.3663A>T (p.Glu1221Asp)
c.3441A>T (p.Glu1147Asp)
c.3426A>T (p.Glu1142Asp)
n.4718A>T
n.4703A>T
n.4755A>T
 dbSNP
14g.45185313C>ACA389608278FANCMc.2824C>A (p.Gln942Lys)
c.390C>A
c.4405C>A (p.Gln1469Lys)
c.*3423C>A (n.*3423C>A)
n.348C>A
n.502C>A
c.4612C>A (p.Gln1538Lys)
c.*2637C>A (n.*2637C>A)
c.4456C>A (p.Gln1486Lys)
n.4560C>A
c.2610C>A
c.3543C>A
c.3444C>A
c.*368C>A (n.*368C>A)
c.3429C>A
n.1349C>A
c.4534C>A (p.Gln1512Lys)
c.1409C>A
n.445C>A
c.3160C>A (p.Gln1054Lys)
c.4627C>A (p.Gln1543Lys)
c.4549C>A (p.Gln1517Lys)
c.2641C>A (p.Gln881Lys)
c.3664C>A (p.Gln1222Lys)
c.3442C>A (p.Gln1148Lys)
c.3427C>A (p.Gln1143Lys)
n.4719C>A
n.4704C>A
n.4756C>A
 gnomAD v4
14g.45185313C=CA2133624539FANCMc.2824C= (p.Gln942=)
c.390C=
c.4405C= (p.Gln1469=)
c.*3423C= (n.*3423C=)
n.348C=
n.502C=
c.4612C= (p.Gln1538=)
c.*2637C= (n.*2637C=)
c.4456C= (p.Gln1486=)
n.4560C=
c.2610C=
c.3543C=
c.3444C=
c.*368C= (n.*368C=)
c.3429C=
n.1349C=
c.4534C= (p.Gln1512=)
c.1409C=
n.445C=
c.3160C= (p.Gln1054=)
c.4627C= (p.Gln1543=)
c.4549C= (p.Gln1517=)
c.2641C= (p.Gln881=)
c.3664C= (p.Gln1222=)
c.3442C= (p.Gln1148=)
c.3427C= (p.Gln1143=)
n.4719C=
n.4704C=
n.4756C=
14g.45185313C>GCA389608279FANCMc.2824C>G (p.Gln942Glu)
c.390C>G
c.4405C>G (p.Gln1469Glu)
c.*3423C>G (n.*3423C>G)
n.348C>G
n.502C>G
c.4612C>G (p.Gln1538Glu)
c.*2637C>G (n.*2637C>G)
c.4456C>G (p.Gln1486Glu)
n.4560C>G
c.2610C>G
c.3543C>G
c.3444C>G
c.*368C>G (n.*368C>G)
c.3429C>G
n.1349C>G
c.4534C>G (p.Gln1512Glu)
c.1409C>G
n.445C>G
c.3160C>G (p.Gln1054Glu)
c.4627C>G (p.Gln1543Glu)
c.4549C>G (p.Gln1517Glu)
c.2641C>G (p.Gln881Glu)
c.3664C>G (p.Gln1222Glu)
c.3442C>G (p.Gln1148Glu)
c.3427C>G (p.Gln1143Glu)
n.4719C>G
n.4704C>G
n.4756C>G
14g.45185313C>TCA7169805FANCMc.2824C>T (p.Gln942Ter)
c.390C>T
c.4405C>T (p.Gln1469Ter)
c.*3423C>T (n.*3423C>T)
n.348C>T
n.502C>T
c.4612C>T (p.Gln1538Ter)
c.*2637C>T (n.*2637C>T)
c.4456C>T (p.Gln1486Ter)
n.4560C>T
c.2610C>T
c.3543C>T
c.3444C>T
c.*368C>T (n.*368C>T)
c.3429C>T
n.1349C>T
c.4534C>T (p.Gln1512Ter)
c.1409C>T
n.445C>T
c.3160C>T (p.Gln1054Ter)
c.4627C>T (p.Gln1543Ter)
c.4549C>T (p.Gln1517Ter)
c.2641C>T (p.Gln881Ter)
c.3664C>T (p.Gln1222Ter)
c.3442C>T (p.Gln1148Ter)
c.3427C>T (p.Gln1143Ter)
n.4719C>T
n.4704C>T
n.4756C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185314A>CCA389608280FANCMc.2825A>C (p.Gln942Pro)
c.391A>C
c.4406A>C (p.Gln1469Pro)
c.*3424A>C (n.*3424A>C)
n.349A>C
n.503A>C
c.4613A>C (p.Gln1538Pro)
c.*2638A>C (n.*2638A>C)
c.4457A>C (p.Gln1486Pro)
n.4561A>C
c.2611A>C
c.3544A>C
c.3445A>C
c.*369A>C (n.*369A>C)
c.3430A>C
n.1350A>C
c.4535A>C (p.Gln1512Pro)
c.1410A>C
n.446A>C
c.3161A>C (p.Gln1054Pro)
c.4628A>C (p.Gln1543Pro)
c.4550A>C (p.Gln1517Pro)
c.2642A>C (p.Gln881Pro)
c.3665A>C (p.Gln1222Pro)
c.3443A>C (p.Gln1148Pro)
c.3428A>C (p.Gln1143Pro)
n.4720A>C
n.4705A>C
n.4757A>C
14g.45185314A>GCA389608281FANCMc.2825A>G (p.Gln942Arg)
c.391A>G
c.4406A>G (p.Gln1469Arg)
c.*3424A>G (n.*3424A>G)
n.349A>G
n.503A>G
c.4613A>G (p.Gln1538Arg)
c.*2638A>G (n.*2638A>G)
c.4457A>G (p.Gln1486Arg)
n.4561A>G
c.2611A>G
c.3544A>G
c.3445A>G
c.*369A>G (n.*369A>G)
c.3430A>G
n.1350A>G
c.4535A>G (p.Gln1512Arg)
c.1410A>G
n.446A>G
c.3161A>G (p.Gln1054Arg)
c.4628A>G (p.Gln1543Arg)
c.4550A>G (p.Gln1517Arg)
c.2642A>G (p.Gln881Arg)
c.3665A>G (p.Gln1222Arg)
c.3443A>G (p.Gln1148Arg)
c.3428A>G (p.Gln1143Arg)
n.4720A>G
n.4705A>G
n.4757A>G
 gnomAD v4
14g.45185314A>TCA389608282FANCMc.2825A>T (p.Gln942Leu)
c.391A>T
c.4406A>T (p.Gln1469Leu)
c.*3424A>T (n.*3424A>T)
n.349A>T
n.503A>T
c.4613A>T (p.Gln1538Leu)
c.*2638A>T (n.*2638A>T)
c.4457A>T (p.Gln1486Leu)
n.4561A>T
c.2611A>T
c.3544A>T
c.3445A>T
c.*369A>T (n.*369A>T)
c.3430A>T
n.1350A>T
c.4535A>T (p.Gln1512Leu)
c.1410A>T
n.446A>T
c.3161A>T (p.Gln1054Leu)
c.4628A>T (p.Gln1543Leu)
c.4550A>T (p.Gln1517Leu)
c.2642A>T (p.Gln881Leu)
c.3665A>T (p.Gln1222Leu)
c.3443A>T (p.Gln1148Leu)
c.3428A>T (p.Gln1143Leu)
n.4720A>T
n.4705A>T
n.4757A>T
14g.45185315A>CCA389608283FANCMc.2826A>C (p.Gln942His)
c.392A>C
c.4407A>C (p.Gln1469His)
c.*3425A>C (n.*3425A>C)
n.350A>C
n.504A>C
c.4614A>C (p.Gln1538His)
c.*2639A>C (n.*2639A>C)
c.4458A>C (p.Gln1486His)
n.4562A>C
c.2612A>C
c.3545A>C
c.3446A>C
c.*370A>C (n.*370A>C)
c.3431A>C
n.1351A>C
c.4536A>C (p.Gln1512His)
c.1411A>C
n.447A>C
c.3162A>C (p.Gln1054His)
c.4629A>C (p.Gln1543His)
c.4551A>C (p.Gln1517His)
c.2643A>C (p.Gln881His)
c.3666A>C (p.Gln1222His)
c.3444A>C (p.Gln1148His)
c.3429A>C (p.Gln1143His)
n.4721A>C
n.4706A>C
n.4758A>C
14g.45185315A>GCA486141387FANCMc.2826A>G (p.Gln942=)
c.392A>G
c.4407A>G (p.Gln1469=)
c.*3425A>G (n.*3425A>G)
n.350A>G
n.504A>G
c.4614A>G (p.Gln1538=)
c.*2639A>G (n.*2639A>G)
c.4458A>G (p.Gln1486=)
n.4562A>G
c.2612A>G
c.3545A>G
c.3446A>G
c.*370A>G (n.*370A>G)
c.3431A>G
n.1351A>G
c.4536A>G (p.Gln1512=)
c.1411A>G
n.447A>G
c.3162A>G (p.Gln1054=)
c.4629A>G (p.Gln1543=)
c.4551A>G (p.Gln1517=)
c.2643A>G (p.Gln881=)
c.3666A>G (p.Gln1222=)
c.3444A>G (p.Gln1148=)
c.3429A>G (p.Gln1143=)
n.4721A>G
n.4706A>G
n.4758A>G
14g.45185315A>TCA389608284FANCMc.2826A>T (p.Gln942His)
c.392A>T
c.4407A>T (p.Gln1469His)
c.*3425A>T (n.*3425A>T)
n.350A>T
n.504A>T
c.4614A>T (p.Gln1538His)
c.*2639A>T (n.*2639A>T)
c.4458A>T (p.Gln1486His)
n.4562A>T
c.2612A>T
c.3545A>T
c.3446A>T
c.*370A>T (n.*370A>T)
c.3431A>T
n.1351A>T
c.4536A>T (p.Gln1512His)
c.1411A>T
n.447A>T
c.3162A>T (p.Gln1054His)
c.4629A>T (p.Gln1543His)
c.4551A>T (p.Gln1517His)
c.2643A>T (p.Gln881His)
c.3666A>T (p.Gln1222His)
c.3444A>T (p.Gln1148His)
c.3429A>T (p.Gln1143His)
n.4721A>T
n.4706A>T
n.4758A>T
14g.45185316G>ACA389608285FANCMc.2827G>A (p.Asp943Asn)
c.393G>A
c.4408G>A (p.Asp1470Asn)
c.*3426G>A (n.*3426G>A)
n.351G>A
n.505G>A
c.4615G>A (p.Asp1539Asn)
c.*2640G>A (n.*2640G>A)
c.4459G>A (p.Asp1487Asn)
n.4563G>A
c.2613G>A
c.3546G>A
c.3447G>A
c.*371G>A (n.*371G>A)
c.3432G>A
n.1352G>A
c.4537G>A (p.Asp1513Asn)
c.1412G>A
n.448G>A
c.3163G>A (p.Asp1055Asn)
c.4630G>A (p.Asp1544Asn)
c.4552G>A (p.Asp1518Asn)
c.2644G>A (p.Asp882Asn)
c.3667G>A (p.Asp1223Asn)
c.3445G>A (p.Asp1149Asn)
c.3430G>A (p.Asp1144Asn)
n.4722G>A
n.4707G>A
n.4759G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185316G>CCA389608286FANCMc.2827G>C (p.Asp943His)
c.393G>C
c.4408G>C (p.Asp1470His)
c.*3426G>C (n.*3426G>C)
n.351G>C
n.505G>C
c.4615G>C (p.Asp1539His)
c.*2640G>C (n.*2640G>C)
c.4459G>C (p.Asp1487His)
n.4563G>C
c.2613G>C
c.3546G>C
c.3447G>C
c.*371G>C (n.*371G>C)
c.3432G>C
n.1352G>C
c.4537G>C (p.Asp1513His)
c.1412G>C
n.448G>C
c.3163G>C (p.Asp1055His)
c.4630G>C (p.Asp1544His)
c.4552G>C (p.Asp1518His)
c.2644G>C (p.Asp882His)
c.3667G>C (p.Asp1223His)
c.3445G>C (p.Asp1149His)
c.3430G>C (p.Asp1144His)
n.4722G>C
n.4707G>C
n.4759G>C
 dbSNP gnomAD v2 gnomAD v4
14g.45185316G=CA2133624541FANCMc.2827G= (p.Asp943=)
c.393G=
c.4408G= (p.Asp1470=)
c.*3426G= (n.*3426G=)
n.351G=
n.505G=
c.4615G= (p.Asp1539=)
c.*2640G= (n.*2640G=)
c.4459G= (p.Asp1487=)
n.4563G=
c.2613G=
c.3546G=
c.3447G=
c.*371G= (n.*371G=)
c.3432G=
n.1352G=
c.4537G= (p.Asp1513=)
c.1412G=
n.448G=
c.3163G= (p.Asp1055=)
c.4630G= (p.Asp1544=)
c.4552G= (p.Asp1518=)
c.2644G= (p.Asp882=)
c.3667G= (p.Asp1223=)
c.3445G= (p.Asp1149=)
c.3430G= (p.Asp1144=)
n.4722G=
n.4707G=
n.4759G=
14g.45185316G>TCA389608287FANCMc.2827G>T (p.Asp943Tyr)
c.393G>T
c.4408G>T (p.Asp1470Tyr)
c.*3426G>T (n.*3426G>T)
n.351G>T
n.505G>T
c.4615G>T (p.Asp1539Tyr)
c.*2640G>T (n.*2640G>T)
c.4459G>T (p.Asp1487Tyr)
n.4563G>T
c.2613G>T
c.3546G>T
c.3447G>T
c.*371G>T (n.*371G>T)
c.3432G>T
n.1352G>T
c.4537G>T (p.Asp1513Tyr)
c.1412G>T
n.448G>T
c.3163G>T (p.Asp1055Tyr)
c.4630G>T (p.Asp1544Tyr)
c.4552G>T (p.Asp1518Tyr)
c.2644G>T (p.Asp882Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3445G>T (p.Asp1149Tyr)
c.3430G>T (p.Asp1144Tyr)
n.4722G>T
n.4707G>T
n.4759G>T
14g.45185317A=CA2133624543FANCMc.2828A= (p.Asp943=)
c.394A=
c.4409A= (p.Asp1470=)
c.*3427A= (n.*3427A=)
n.352A=
n.506A=
c.4616A= (p.Asp1539=)
c.*2641A= (n.*2641A=)
c.4460A= (p.Asp1487=)
n.4564A=
c.2614A=
c.3547A=
c.3448A=
c.*372A= (n.*372A=)
c.3433A=
n.1353A=
c.4538A= (p.Asp1513=)
c.1413A=
n.449A=
c.3164A= (p.Asp1055=)
c.4631A= (p.Asp1544=)
c.4553A= (p.Asp1518=)
c.2645A= (p.Asp882=)
c.3668A= (p.Asp1223=)
c.3446A= (p.Asp1149=)
c.3431A= (p.Asp1144=)
n.4723A=
n.4708A=
n.4760A=
14g.45185317A>CCA389608289FANCMc.2828A>C (p.Asp943Ala)
c.394A>C
c.4409A>C (p.Asp1470Ala)
c.*3427A>C (n.*3427A>C)
n.352A>C
n.506A>C
c.4616A>C (p.Asp1539Ala)
c.*2641A>C (n.*2641A>C)
c.4460A>C (p.Asp1487Ala)
n.4564A>C
c.2614A>C
c.3547A>C
c.3448A>C
c.*372A>C (n.*372A>C)
c.3433A>C
n.1353A>C
c.4538A>C (p.Asp1513Ala)
c.1413A>C
n.449A>C
c.3164A>C (p.Asp1055Ala)
c.4631A>C (p.Asp1544Ala)
c.4553A>C (p.Asp1518Ala)
c.2645A>C (p.Asp882Ala)
c.3668A>C (p.Asp1223Ala)
c.3446A>C (p.Asp1149Ala)
c.3431A>C (p.Asp1144Ala)
n.4723A>C
n.4708A>C
n.4760A>C
14g.45185317A>GCA7169806FANCMc.2828A>G (p.Asp943Gly)
c.394A>G
c.4409A>G (p.Asp1470Gly)
c.*3427A>G (n.*3427A>G)
n.352A>G
n.506A>G
c.4616A>G (p.Asp1539Gly)
c.*2641A>G (n.*2641A>G)
c.4460A>G (p.Asp1487Gly)
n.4564A>G
c.2614A>G
c.3547A>G
c.3448A>G
c.*372A>G (n.*372A>G)
c.3433A>G
n.1353A>G
c.4538A>G (p.Asp1513Gly)
c.1413A>G
n.449A>G
c.3164A>G (p.Asp1055Gly)
c.4631A>G (p.Asp1544Gly)
c.4553A>G (p.Asp1518Gly)
c.2645A>G (p.Asp882Gly)
c.3668A>G (p.Asp1223Gly)
c.3446A>G (p.Asp1149Gly)
c.3431A>G (p.Asp1144Gly)
n.4723A>G
n.4708A>G
n.4760A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185317A>TCA389608288FANCMc.2828A>T (p.Asp943Val)
c.394A>T
c.4409A>T (p.Asp1470Val)
c.*3427A>T (n.*3427A>T)
n.352A>T
n.506A>T
c.4616A>T (p.Asp1539Val)
c.*2641A>T (n.*2641A>T)
c.4460A>T (p.Asp1487Val)
n.4564A>T
c.2614A>T
c.3547A>T
c.3448A>T
c.*372A>T (n.*372A>T)
c.3433A>T
n.1353A>T
c.4538A>T (p.Asp1513Val)
c.1413A>T
n.449A>T
c.3164A>T (p.Asp1055Val)
c.4631A>T (p.Asp1544Val)
c.4553A>T (p.Asp1518Val)
c.2645A>T (p.Asp882Val)
c.3668A>T (p.Asp1223Val)
c.3446A>T (p.Asp1149Val)
c.3431A>T (p.Asp1144Val)
n.4723A>T
n.4708A>T
n.4760A>T
14g.45185318T>ACA389608290FANCMc.2829T>A (p.Asp943Glu)
c.395T>A
c.4410T>A (p.Asp1470Glu)
c.*3428T>A (n.*3428T>A)
n.353T>A
n.507T>A
c.4617T>A (p.Asp1539Glu)
c.*2642T>A (n.*2642T>A)
c.4461T>A (p.Asp1487Glu)
n.4565T>A
c.2615T>A
c.3548T>A
c.3449T>A
c.*373T>A (n.*373T>A)
c.3434T>A
n.1354T>A
c.4539T>A (p.Asp1513Glu)
c.1414T>A
n.450T>A
c.3165T>A (p.Asp1055Glu)
c.4632T>A (p.Asp1544Glu)
c.4554T>A (p.Asp1518Glu)
c.2646T>A (p.Asp882Glu)
c.3669T>A (p.Asp1223Glu)
c.3447T>A (p.Asp1149Glu)
c.3432T>A (p.Asp1144Glu)
n.4724T>A
n.4709T>A
n.4761T>A
14g.45185318T>CCA486141388FANCMc.2829T>C (p.Asp943=)
c.395T>C
c.4410T>C (p.Asp1470=)
c.*3428T>C (n.*3428T>C)
n.353T>C
n.507T>C
c.4617T>C (p.Asp1539=)
c.*2642T>C (n.*2642T>C)
c.4461T>C (p.Asp1487=)
n.4565T>C
c.2615T>C
c.3548T>C
c.3449T>C
c.*373T>C (n.*373T>C)
c.3434T>C
n.1354T>C
c.4539T>C (p.Asp1513=)
c.1414T>C
n.450T>C
c.3165T>C (p.Asp1055=)
c.4632T>C (p.Asp1544=)
c.4554T>C (p.Asp1518=)
c.2646T>C (p.Asp882=)
c.3669T>C (p.Asp1223=)
c.3447T>C (p.Asp1149=)
c.3432T>C (p.Asp1144=)
n.4724T>C
n.4709T>C
n.4761T>C
 ClinVar dbSNP gnomAD v4
14g.45185318T>GCA389608291FANCMc.2829T>G (p.Asp943Glu)
c.395T>G
c.4410T>G (p.Asp1470Glu)
c.*3428T>G (n.*3428T>G)
n.353T>G
n.507T>G
c.4617T>G (p.Asp1539Glu)
c.*2642T>G (n.*2642T>G)
c.4461T>G (p.Asp1487Glu)
n.4565T>G
c.2615T>G
c.3548T>G
c.3449T>G
c.*373T>G (n.*373T>G)
c.3434T>G
n.1354T>G
c.4539T>G (p.Asp1513Glu)
c.1414T>G
n.450T>G
c.3165T>G (p.Asp1055Glu)
c.4632T>G (p.Asp1544Glu)
c.4554T>G (p.Asp1518Glu)
c.2646T>G (p.Asp882Glu)
c.3669T>G (p.Asp1223Glu)
c.3447T>G (p.Asp1149Glu)
c.3432T>G (p.Asp1144Glu)
n.4724T>G
n.4709T>G
n.4761T>G
14g.45185318T=CA2133624546FANCMc.2829T= (p.Asp943=)
c.395T=
c.4410T= (p.Asp1470=)
c.*3428T= (n.*3428T=)
n.353T=
n.507T=
c.4617T= (p.Asp1539=)
c.*2642T= (n.*2642T=)
c.4461T= (p.Asp1487=)
n.4565T=
c.2615T=
c.3548T=
c.3449T=
c.*373T= (n.*373T=)
c.3434T=
n.1354T=
c.4539T= (p.Asp1513=)
c.1414T=
n.450T=
c.3165T= (p.Asp1055=)
c.4632T= (p.Asp1544=)
c.4554T= (p.Asp1518=)
c.2646T= (p.Asp882=)
c.3669T= (p.Asp1223=)
c.3447T= (p.Asp1149=)
c.3432T= (p.Asp1144=)
n.4724T=
n.4709T=
n.4761T=
14g.45185319T>ACA389608292FANCMc.2830T>A (p.Ser944Thr)
c.396T>A
c.4411T>A (p.Ser1471Thr)
c.*3429T>A (n.*3429T>A)
n.354T>A
n.508T>A
c.4618T>A (p.Ser1540Thr)
c.*2643T>A (n.*2643T>A)
c.4462T>A (p.Ser1488Thr)
n.4566T>A
c.2616T>A
c.3549T>A
c.3450T>A
c.*374T>A (n.*374T>A)
c.3435T>A
n.1355T>A
c.4540T>A (p.Ser1514Thr)
c.1415T>A
n.451T>A
c.3166T>A (p.Ser1056Thr)
c.4633T>A (p.Ser1545Thr)
c.4555T>A (p.Ser1519Thr)
c.2647T>A (p.Ser883Thr)
c.3670T>A (p.Ser1224Thr)
c.3448T>A (p.Ser1150Thr)
c.3433T>A (p.Ser1145Thr)
n.4725T>A
n.4710T>A
n.4762T>A
14g.45185319T>CCA389608293FANCMc.2830T>C (p.Ser944Pro)
c.396T>C
c.4411T>C (p.Ser1471Pro)
c.*3429T>C (n.*3429T>C)
n.354T>C
n.508T>C
c.4618T>C (p.Ser1540Pro)
c.*2643T>C (n.*2643T>C)
c.4462T>C (p.Ser1488Pro)
n.4566T>C
c.2616T>C
c.3549T>C
c.3450T>C
c.*374T>C (n.*374T>C)
c.3435T>C
n.1355T>C
c.4540T>C (p.Ser1514Pro)
c.1415T>C
n.451T>C
c.3166T>C (p.Ser1056Pro)
c.4633T>C (p.Ser1545Pro)
c.4555T>C (p.Ser1519Pro)
c.2647T>C (p.Ser883Pro)
c.3670T>C (p.Ser1224Pro)
c.3448T>C (p.Ser1150Pro)
c.3433T>C (p.Ser1145Pro)
n.4725T>C
n.4710T>C
n.4762T>C
 gnomAD v4
14g.45185319T>GCA389608294FANCMc.2830T>G (p.Ser944Ala)
c.396T>G
c.4411T>G (p.Ser1471Ala)
c.*3429T>G (n.*3429T>G)
n.354T>G
n.508T>G
c.4618T>G (p.Ser1540Ala)
c.*2643T>G (n.*2643T>G)
c.4462T>G (p.Ser1488Ala)
n.4566T>G
c.2616T>G
c.3549T>G
c.3450T>G
c.*374T>G (n.*374T>G)
c.3435T>G
n.1355T>G
c.4540T>G (p.Ser1514Ala)
c.1415T>G
n.451T>G
c.3166T>G (p.Ser1056Ala)
c.4633T>G (p.Ser1545Ala)
c.4555T>G (p.Ser1519Ala)
c.2647T>G (p.Ser883Ala)
c.3670T>G (p.Ser1224Ala)
c.3448T>G (p.Ser1150Ala)
c.3433T>G (p.Ser1145Ala)
n.4725T>G
n.4710T>G
n.4762T>G
 dbSNP gnomAD v2 gnomAD v4
14g.45185319T=CA2133624547FANCMc.2830T= (p.Ser944=)
c.396T=
c.4411T= (p.Ser1471=)
c.*3429T= (n.*3429T=)
n.354T=
n.508T=
c.4618T= (p.Ser1540=)
c.*2643T= (n.*2643T=)
c.4462T= (p.Ser1488=)
n.4566T=
c.2616T=
c.3549T=
c.3450T=
c.*374T= (n.*374T=)
c.3435T=
n.1355T=
c.4540T= (p.Ser1514=)
c.1415T=
n.451T=
c.3166T= (p.Ser1056=)
c.4633T= (p.Ser1545=)
c.4555T= (p.Ser1519=)
c.2647T= (p.Ser883=)
c.3670T= (p.Ser1224=)
c.3448T= (p.Ser1150=)
c.3433T= (p.Ser1145=)
n.4725T=
n.4710T=
n.4762T=
14g.45185320C>ACA389608295FANCMc.2831C>A (p.Ser944Tyr)
c.397C>A
c.4412C>A (p.Ser1471Tyr)
c.*3430C>A (n.*3430C>A)
n.355C>A
n.509C>A
c.4619C>A (p.Ser1540Tyr)
c.*2644C>A (n.*2644C>A)
c.4463C>A (p.Ser1488Tyr)
n.4567C>A
c.2617C>A
c.3550C>A
c.3451C>A
c.*375C>A (n.*375C>A)
c.3436C>A
n.1356C>A
c.4541C>A (p.Ser1514Tyr)
c.1416C>A
n.452C>A
c.3167C>A (p.Ser1056Tyr)
c.4634C>A (p.Ser1545Tyr)
c.4556C>A (p.Ser1519Tyr)
c.2648C>A (p.Ser883Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3449C>A (p.Ser1150Tyr)
c.3434C>A (p.Ser1145Tyr)
n.4726C>A
n.4711C>A
n.4763C>A
 dbSNP
14g.45185320C=CA2133624549FANCMc.2831C= (p.Ser944=)
c.397C=
c.4412C= (p.Ser1471=)
c.*3430C= (n.*3430C=)
n.355C=
n.509C=
c.4619C= (p.Ser1540=)
c.*2644C= (n.*2644C=)
c.4463C= (p.Ser1488=)
n.4567C=
c.2617C=
c.3550C=
c.3451C=
c.*375C= (n.*375C=)
c.3436C=
n.1356C=
c.4541C= (p.Ser1514=)
c.1416C=
n.452C=
c.3167C= (p.Ser1056=)
c.4634C= (p.Ser1545=)
c.4556C= (p.Ser1519=)
c.2648C= (p.Ser883=)
c.3671C= (p.Ser1224=)
c.3449C= (p.Ser1150=)
c.3434C= (p.Ser1145=)
n.4726C=
n.4711C=
n.4763C=
14g.45185320C>GCA389608296FANCMc.2831C>G (p.Ser944Cys)
c.397C>G
c.4412C>G (p.Ser1471Cys)
c.*3430C>G (n.*3430C>G)
n.355C>G
n.509C>G
c.4619C>G (p.Ser1540Cys)
c.*2644C>G (n.*2644C>G)
c.4463C>G (p.Ser1488Cys)
n.4567C>G
c.2617C>G
c.3550C>G
c.3451C>G
c.*375C>G (n.*375C>G)
c.3436C>G
n.1356C>G
c.4541C>G (p.Ser1514Cys)
c.1416C>G
n.452C>G
c.3167C>G (p.Ser1056Cys)
c.4634C>G (p.Ser1545Cys)
c.4556C>G (p.Ser1519Cys)
c.2648C>G (p.Ser883Cys)
c.3671C>G (p.Ser1224Cys)
c.3449C>G (p.Ser1150Cys)
c.3434C>G (p.Ser1145Cys)
n.4726C>G
n.4711C>G
n.4763C>G
14g.45185320C>TCA389608297FANCMc.2831C>T (p.Ser944Phe)
c.397C>T
c.4412C>T (p.Ser1471Phe)
c.*3430C>T (n.*3430C>T)
n.355C>T
n.509C>T
c.4619C>T (p.Ser1540Phe)
c.*2644C>T (n.*2644C>T)
c.4463C>T (p.Ser1488Phe)
n.4567C>T
c.2617C>T
c.3550C>T
c.3451C>T
c.*375C>T (n.*375C>T)
c.3436C>T
n.1356C>T
c.4541C>T (p.Ser1514Phe)
c.1416C>T
n.452C>T
c.3167C>T (p.Ser1056Phe)
c.4634C>T (p.Ser1545Phe)
c.4556C>T (p.Ser1519Phe)
c.2648C>T (p.Ser883Phe)
c.3671C>T (p.Ser1224Phe)
c.3449C>T (p.Ser1150Phe)
c.3434C>T (p.Ser1145Phe)
n.4726C>T
n.4711C>T
n.4763C>T
 ClinVar dbSNP
14g.45185321C>ACA486141390FANCMc.2832C>A (p.Ser944=)
c.398C>A
c.4413C>A (p.Ser1471=)
c.*3431C>A (n.*3431C>A)
n.356C>A
n.510C>A
c.4620C>A (p.Ser1540=)
c.*2645C>A (n.*2645C>A)
c.4464C>A (p.Ser1488=)
n.4568C>A
c.2618C>A
c.3551C>A
c.3452C>A
c.*376C>A (n.*376C>A)
c.3437C>A
n.1357C>A
c.4542C>A (p.Ser1514=)
c.1417C>A
n.453C>A
c.3168C>A (p.Ser1056=)
c.4635C>A (p.Ser1545=)
c.4557C>A (p.Ser1519=)
c.2649C>A (p.Ser883=)
c.3672C>A (p.Ser1224=)
c.3450C>A (p.Ser1150=)
c.3435C>A (p.Ser1145=)
n.4727C>A
n.4712C>A
n.4764C>A
 gnomAD v4
14g.45185321C=CA2133624551FANCMc.2832C= (p.Ser944=)
c.398C=
c.4413C= (p.Ser1471=)
c.*3431C= (n.*3431C=)
n.356C=
n.510C=
c.4620C= (p.Ser1540=)
c.*2645C= (n.*2645C=)
c.4464C= (p.Ser1488=)
n.4568C=
c.2618C=
c.3551C=
c.3452C=
c.*376C= (n.*376C=)
c.3437C=
n.1357C=
c.4542C= (p.Ser1514=)
c.1417C=
n.453C=
c.3168C= (p.Ser1056=)
c.4635C= (p.Ser1545=)
c.4557C= (p.Ser1519=)
c.2649C= (p.Ser883=)
c.3672C= (p.Ser1224=)
c.3450C= (p.Ser1150=)
c.3435C= (p.Ser1145=)
n.4727C=
n.4712C=
n.4764C=
14g.45185321C>GCA259634592FANCMc.2832C>G (p.Ser944=)
c.398C>G
c.4413C>G (p.Ser1471=)
c.*3431C>G (n.*3431C>G)
n.356C>G
n.510C>G
c.4620C>G (p.Ser1540=)
c.*2645C>G (n.*2645C>G)
c.4464C>G (p.Ser1488=)
n.4568C>G
c.2618C>G
c.3551C>G
c.3452C>G
c.*376C>G (n.*376C>G)
c.3437C>G
n.1357C>G
c.4542C>G (p.Ser1514=)
c.1417C>G
n.453C>G
c.3168C>G (p.Ser1056=)
c.4635C>G (p.Ser1545=)
c.4557C>G (p.Ser1519=)
c.2649C>G (p.Ser883=)
c.3672C>G (p.Ser1224=)
c.3450C>G (p.Ser1150=)
c.3435C>G (p.Ser1145=)
n.4727C>G
n.4712C>G
n.4764C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.45185321C>TCA486141391FANCMc.2832C>T (p.Ser944=)
c.398C>T
c.4413C>T (p.Ser1471=)
c.*3431C>T (n.*3431C>T)
n.356C>T
n.510C>T
c.4620C>T (p.Ser1540=)
c.*2645C>T (n.*2645C>T)
c.4464C>T (p.Ser1488=)
n.4568C>T
c.2618C>T
c.3551C>T
c.3452C>T
c.*376C>T (n.*376C>T)
c.3437C>T
n.1357C>T
c.4542C>T (p.Ser1514=)
c.1417C>T
n.453C>T
c.3168C>T (p.Ser1056=)
c.4635C>T (p.Ser1545=)
c.4557C>T (p.Ser1519=)
c.2649C>T (p.Ser883=)
c.3672C>T (p.Ser1224=)
c.3450C>T (p.Ser1150=)
c.3435C>T (p.Ser1145=)
n.4727C>T
n.4712C>T
n.4764C>T
14g.45185322T>ACA389608298FANCMc.2833T>A (p.Ser945Thr)
c.399T>A
c.4414T>A (p.Ser1472Thr)
c.*3432T>A (n.*3432T>A)
n.357T>A
n.511T>A
c.4621T>A (p.Ser1541Thr)
c.*2646T>A (n.*2646T>A)
c.4465T>A (p.Ser1489Thr)
n.4569T>A
c.2619T>A
c.3552T>A
c.3453T>A
c.*377T>A (n.*377T>A)
c.3438T>A
n.1358T>A
c.4543T>A (p.Ser1515Thr)
c.1418T>A
n.454T>A
c.3169T>A (p.Ser1057Thr)
c.4636T>A (p.Ser1546Thr)
c.4558T>A (p.Ser1520Thr)
c.2650T>A (p.Ser884Thr)
c.3673T>A (p.Ser1225Thr)
c.3451T>A (p.Ser1151Thr)
c.3436T>A (p.Ser1146Thr)
n.4728T>A
n.4713T>A
n.4765T>A
 dbSNP gnomAD v2 gnomAD v4
14g.45185322T>CCA389608299FANCMc.2833T>C (p.Ser945Pro)
c.399T>C
c.4414T>C (p.Ser1472Pro)
c.*3432T>C (n.*3432T>C)
n.357T>C
n.511T>C
c.4621T>C (p.Ser1541Pro)
c.*2646T>C (n.*2646T>C)
c.4465T>C (p.Ser1489Pro)
n.4569T>C
c.2619T>C
c.3552T>C
c.3453T>C
c.*377T>C (n.*377T>C)
c.3438T>C
n.1358T>C
c.4543T>C (p.Ser1515Pro)
c.1418T>C
n.454T>C
c.3169T>C (p.Ser1057Pro)
c.4636T>C (p.Ser1546Pro)
c.4558T>C (p.Ser1520Pro)
c.2650T>C (p.Ser884Pro)
c.3673T>C (p.Ser1225Pro)
c.3451T>C (p.Ser1151Pro)
c.3436T>C (p.Ser1146Pro)
n.4728T>C
n.4713T>C
n.4765T>C
14g.45185322T>GCA389608300FANCMc.2833T>G (p.Ser945Ala)
c.399T>G
c.4414T>G (p.Ser1472Ala)
c.*3432T>G (n.*3432T>G)
n.357T>G
n.511T>G
c.4621T>G (p.Ser1541Ala)
c.*2646T>G (n.*2646T>G)
c.4465T>G (p.Ser1489Ala)
n.4569T>G
c.2619T>G
c.3552T>G
c.3453T>G
c.*377T>G (n.*377T>G)
c.3438T>G
n.1358T>G
c.4543T>G (p.Ser1515Ala)
c.1418T>G
n.454T>G
c.3169T>G (p.Ser1057Ala)
c.4636T>G (p.Ser1546Ala)
c.4558T>G (p.Ser1520Ala)
c.2650T>G (p.Ser884Ala)
c.3673T>G (p.Ser1225Ala)
c.3451T>G (p.Ser1151Ala)
c.3436T>G (p.Ser1146Ala)
n.4728T>G
n.4713T>G
n.4765T>G
14g.45185322T=CA2133624553FANCMc.2833T= (p.Ser945=)
c.399T=
c.4414T= (p.Ser1472=)
c.*3432T= (n.*3432T=)
n.357T=
n.511T=
c.4621T= (p.Ser1541=)
c.*2646T= (n.*2646T=)
c.4465T= (p.Ser1489=)
n.4569T=
c.2619T=
c.3552T=
c.3453T=
c.*377T= (n.*377T=)
c.3438T=
n.1358T=
c.4543T= (p.Ser1515=)
c.1418T=
n.454T=
c.3169T= (p.Ser1057=)
c.4636T= (p.Ser1546=)
c.4558T= (p.Ser1520=)
c.2650T= (p.Ser884=)
c.3673T= (p.Ser1225=)
c.3451T= (p.Ser1151=)
c.3436T= (p.Ser1146=)
n.4728T=
n.4713T=
n.4765T=
14g.45185323C>ACA389608301FANCMc.2834C>A (p.Ser945Ter)
c.400C>A
c.4415C>A (p.Ser1472Ter)
c.*3433C>A (n.*3433C>A)
n.358C>A
n.512C>A
c.4622C>A (p.Ser1541Ter)
c.*2647C>A (n.*2647C>A)
c.4466C>A (p.Ser1489Ter)
n.4570C>A
c.2620C>A
c.3553C>A
c.3454C>A
c.*378C>A (n.*378C>A)
c.3439C>A
n.1359C>A
c.4544C>A (p.Ser1515Ter)
c.1419C>A
n.455C>A
c.3170C>A (p.Ser1057Ter)
c.4637C>A (p.Ser1546Ter)
c.4559C>A (p.Ser1520Ter)
c.2651C>A (p.Ser884Ter)
c.3674C>A (p.Ser1225Ter)
c.3452C>A (p.Ser1151Ter)
c.3437C>A (p.Ser1146Ter)
n.4729C>A
n.4714C>A
n.4766C>A
 gnomAD v4
14g.45185323C=CA2133624555FANCMc.2834C= (p.Ser945=)
c.400C=
c.4415C= (p.Ser1472=)
c.*3433C= (n.*3433C=)
n.358C=
n.512C=
c.4622C= (p.Ser1541=)
c.*2647C= (n.*2647C=)
c.4466C= (p.Ser1489=)
n.4570C=
c.2620C=
c.3553C=
c.3454C=
c.*378C= (n.*378C=)
c.3439C=
n.1359C=
c.4544C= (p.Ser1515=)
c.1419C=
n.455C=
c.3170C= (p.Ser1057=)
c.4637C= (p.Ser1546=)
c.4559C= (p.Ser1520=)
c.2651C= (p.Ser884=)
c.3674C= (p.Ser1225=)
c.3452C= (p.Ser1151=)
c.3437C= (p.Ser1146=)
n.4729C=
n.4714C=
n.4766C=
14g.45185323C>GCA389608302FANCMc.2834C>G (p.Ser945Ter)
c.400C>G
c.4415C>G (p.Ser1472Ter)
c.*3433C>G (n.*3433C>G)
n.358C>G
n.512C>G
c.4622C>G (p.Ser1541Ter)
c.*2647C>G (n.*2647C>G)
c.4466C>G (p.Ser1489Ter)
n.4570C>G
c.2620C>G
c.3553C>G
c.3454C>G
c.*378C>G (n.*378C>G)
c.3439C>G
n.1359C>G
c.4544C>G (p.Ser1515Ter)
c.1419C>G
n.455C>G
c.3170C>G (p.Ser1057Ter)
c.4637C>G (p.Ser1546Ter)
c.4559C>G (p.Ser1520Ter)
c.2651C>G (p.Ser884Ter)
c.3674C>G (p.Ser1225Ter)
c.3452C>G (p.Ser1151Ter)
c.3437C>G (p.Ser1146Ter)
n.4729C>G
n.4714C>G
n.4766C>G
14g.45185323C>TCA7169807FANCMc.2834C>T (p.Ser945Leu)
c.400C>T
c.4415C>T (p.Ser1472Leu)
c.*3433C>T (n.*3433C>T)
n.358C>T
n.512C>T
c.4622C>T (p.Ser1541Leu)
c.*2647C>T (n.*2647C>T)
c.4466C>T (p.Ser1489Leu)
n.4570C>T
c.2620C>T
c.3553C>T
c.3454C>T
c.*378C>T (n.*378C>T)
c.3439C>T
n.1359C>T
c.4544C>T (p.Ser1515Leu)
c.1419C>T
n.455C>T
c.3170C>T (p.Ser1057Leu)
c.4637C>T (p.Ser1546Leu)
c.4559C>T (p.Ser1520Leu)
c.2651C>T (p.Ser884Leu)
c.3674C>T (p.Ser1225Leu)
c.3452C>T (p.Ser1151Leu)
c.3437C>T (p.Ser1146Leu)
n.4729C>T
n.4714C>T
n.4766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185324A=CA2133624557FANCMc.2835A= (p.Ser945=)
c.401A=
c.4416A= (p.Ser1472=)
c.*3434A= (n.*3434A=)
n.359A=
n.513A=
c.4623A= (p.Ser1541=)
c.*2648A= (n.*2648A=)
c.4467A= (p.Ser1489=)
n.4571A=
c.2621A=
c.3554A=
c.3455A=
c.*379A= (n.*379A=)
c.3440A=
n.1360A=
c.4545A= (p.Ser1515=)
c.1420A=
n.456A=
c.3171A= (p.Ser1057=)
c.4638A= (p.Ser1546=)
c.4560A= (p.Ser1520=)
c.2652A= (p.Ser884=)
c.3675A= (p.Ser1225=)
c.3453A= (p.Ser1151=)
c.3438A= (p.Ser1146=)
n.4730A=
n.4715A=
n.4767A=
14g.45185324A>CCA486141393FANCMc.2835A>C (p.Ser945=)
c.401A>C
c.4416A>C (p.Ser1472=)
c.*3434A>C (n.*3434A>C)
n.359A>C
n.513A>C
c.4623A>C (p.Ser1541=)
c.*2648A>C (n.*2648A>C)
c.4467A>C (p.Ser1489=)
n.4571A>C
c.2621A>C
c.3554A>C
c.3455A>C
c.*379A>C (n.*379A>C)
c.3440A>C
n.1360A>C
c.4545A>C (p.Ser1515=)
c.1420A>C
n.456A>C
c.3171A>C (p.Ser1057=)
c.4638A>C (p.Ser1546=)
c.4560A>C (p.Ser1520=)
c.2652A>C (p.Ser884=)
c.3675A>C (p.Ser1225=)
c.3453A>C (p.Ser1151=)
c.3438A>C (p.Ser1146=)
n.4730A>C
n.4715A>C
n.4767A>C
14g.45185324A>GCA486141395FANCMc.2835A>G (p.Ser945=)
c.401A>G
c.4416A>G (p.Ser1472=)
c.*3434A>G (n.*3434A>G)
n.359A>G
n.513A>G
c.4623A>G (p.Ser1541=)
c.*2648A>G (n.*2648A>G)
c.4467A>G (p.Ser1489=)
n.4571A>G
c.2621A>G
c.3554A>G
c.3455A>G
c.*379A>G (n.*379A>G)
c.3440A>G
n.1360A>G
c.4545A>G (p.Ser1515=)
c.1420A>G
n.456A>G
c.3171A>G (p.Ser1057=)
c.4638A>G (p.Ser1546=)
c.4560A>G (p.Ser1520=)
c.2652A>G (p.Ser884=)
c.3675A>G (p.Ser1225=)
c.3453A>G (p.Ser1151=)
c.3438A>G (p.Ser1146=)
n.4730A>G
n.4715A>G
n.4767A>G
 ClinVar dbSNP
14g.45185324A>TCA486141394FANCMc.2835A>T (p.Ser945=)
c.401A>T
c.4416A>T (p.Ser1472=)
c.*3434A>T (n.*3434A>T)
n.359A>T
n.513A>T
c.4623A>T (p.Ser1541=)
c.*2648A>T (n.*2648A>T)
c.4467A>T (p.Ser1489=)
n.4571A>T
c.2621A>T
c.3554A>T
c.3455A>T
c.*379A>T (n.*379A>T)
c.3440A>T
n.1360A>T
c.4545A>T (p.Ser1515=)
c.1420A>T
n.456A>T
c.3171A>T (p.Ser1057=)
c.4638A>T (p.Ser1546=)
c.4560A>T (p.Ser1520=)
c.2652A>T (p.Ser884=)
c.3675A>T (p.Ser1225=)
c.3453A>T (p.Ser1151=)
c.3438A>T (p.Ser1146=)
n.4730A>T
n.4715A>T
n.4767A>T
14g.45185325T>ACA389608303FANCMc.2836T>A (p.Leu946Ile)
c.402T>A
c.4417T>A (p.Leu1473Ile)
c.*3435T>A (n.*3435T>A)
n.360T>A
n.514T>A
c.4624T>A (p.Leu1542Ile)
c.*2649T>A (n.*2649T>A)
c.4468T>A (p.Leu1490Ile)
n.4572T>A
c.2622T>A
c.3555T>A
c.3456T>A
c.*380T>A (n.*380T>A)
c.3441T>A
n.1361T>A
c.4546T>A (p.Leu1516Ile)
c.1421T>A
n.457T>A
c.3172T>A (p.Leu1058Ile)
c.4639T>A (p.Leu1547Ile)
c.4561T>A (p.Leu1521Ile)
c.2653T>A (p.Leu885Ile)
c.3676T>A (p.Leu1226Ile)
c.3454T>A (p.Leu1152Ile)
c.3439T>A (p.Leu1147Ile)
n.4731T>A
n.4716T>A
n.4768T>A
14g.45185325T>CCA486141396FANCMc.2836T>C (p.Leu946=)
c.402T>C
c.4417T>C (p.Leu1473=)
c.*3435T>C (n.*3435T>C)
n.360T>C
n.514T>C
c.4624T>C (p.Leu1542=)
c.*2649T>C (n.*2649T>C)
c.4468T>C (p.Leu1490=)
n.4572T>C
c.2622T>C
c.3555T>C
c.3456T>C
c.*380T>C (n.*380T>C)
c.3441T>C
n.1361T>C
c.4546T>C (p.Leu1516=)
c.1421T>C
n.457T>C
c.3172T>C (p.Leu1058=)
c.4639T>C (p.Leu1547=)
c.4561T>C (p.Leu1521=)
c.2653T>C (p.Leu885=)
c.3676T>C (p.Leu1226=)
c.3454T>C (p.Leu1152=)
c.3439T>C (p.Leu1147=)
n.4731T>C
n.4716T>C
n.4768T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185325T>GCA389608304FANCMc.2836T>G (p.Leu946Val)
c.402T>G
c.4417T>G (p.Leu1473Val)
c.*3435T>G (n.*3435T>G)
n.360T>G
n.514T>G
c.4624T>G (p.Leu1542Val)
c.*2649T>G (n.*2649T>G)
c.4468T>G (p.Leu1490Val)
n.4572T>G
c.2622T>G
c.3555T>G
c.3456T>G
c.*380T>G (n.*380T>G)
c.3441T>G
n.1361T>G
c.4546T>G (p.Leu1516Val)
c.1421T>G
n.457T>G
c.3172T>G (p.Leu1058Val)
c.4639T>G (p.Leu1547Val)
c.4561T>G (p.Leu1521Val)
c.2653T>G (p.Leu885Val)
c.3676T>G (p.Leu1226Val)
c.3454T>G (p.Leu1152Val)
c.3439T>G (p.Leu1147Val)
n.4731T>G
n.4716T>G
n.4768T>G
14g.45185325T=CA2133624559FANCMc.2836T= (p.Leu946=)
c.402T=
c.4417T= (p.Leu1473=)
c.*3435T= (n.*3435T=)
n.360T=
n.514T=
c.4624T= (p.Leu1542=)
c.*2649T= (n.*2649T=)
c.4468T= (p.Leu1490=)
n.4572T=
c.2622T=
c.3555T=
c.3456T=
c.*380T= (n.*380T=)
c.3441T=
n.1361T=
c.4546T= (p.Leu1516=)
c.1421T=
n.457T=
c.3172T= (p.Leu1058=)
c.4639T= (p.Leu1547=)
c.4561T= (p.Leu1521=)
c.2653T= (p.Leu885=)
c.3676T= (p.Leu1226=)
c.3454T= (p.Leu1152=)
c.3439T= (p.Leu1147=)
n.4731T=
n.4716T=
n.4768T=
14g.45185327_45185330dupCA2133624560FANCMc.2838_2841dup (p.Asp948ThrfsTer2)
c.404_407dup
c.4419_4422dup (p.Asp1475ThrfsTer2)
c.*3437_*3440dup (n.*3437_*3440dup)
n.362_365dup
n.516_519dup
c.4626_4629dup (p.Asp1544ThrfsTer2)
c.*2651_*2654dup (n.*2651_*2654dup)
c.4470_4473dup (p.Asp1492ThrfsTer2)
n.4574_4577dup
c.2624_2627dup
c.3557_3560dup
c.3458_3461dup
c.*382_*385dup (n.*382_*385dup)
c.3443_3446dup
n.1363_1366dup
c.4548_4551dup (p.Asp1518ThrfsTer2)
c.1423_1426dup
n.459_462dup
c.3174_3177dup (p.Asp1060ThrfsTer2)
c.4641_4644dup (p.Asp1549ThrfsTer2)
c.4563_4566dup (p.Asp1523ThrfsTer2)
c.2655_2658dup (p.Asp887ThrfsTer2)
c.3678_3681dup (p.Asp1228ThrfsTer2)
c.3456_3459dup (p.Asp1154ThrfsTer2)
c.3441_3444dup (p.Asp1149ThrfsTer2)
n.4733_4736dup
n.4718_4721dup
n.4770_4773dup
 dbSNP
14g.45185327_45185330delCA2592220586FANCMc.2838_2841del (p.Leu947ThrfsTer3)
c.404_407del
c.4419_4422del (p.Leu1474ThrfsTer3)
c.*3437_*3440del (n.*3437_*3440del)
n.362_365del
n.516_519del
c.4626_4629del (p.Leu1543ThrfsTer3)
c.*2651_*2654del (n.*2651_*2654del)
c.4470_4473del (p.Leu1491ThrfsTer3)
n.4574_4577del
c.2624_2627del
c.3557_3560del
c.3458_3461del
c.*382_*385del (n.*382_*385del)
c.3443_3446del
n.1363_1366del
c.4548_4551del (p.Leu1517ThrfsTer3)
c.1423_1426del
n.459_462del
c.3174_3177del (p.Leu1059ThrfsTer3)
c.4641_4644del (p.Leu1548ThrfsTer3)
c.4563_4566del (p.Leu1522ThrfsTer3)
c.2655_2658del (p.Leu886ThrfsTer3)
c.3678_3681del (p.Leu1227ThrfsTer3)
c.3456_3459del (p.Leu1153ThrfsTer3)
c.3441_3444del (p.Leu1148ThrfsTer3)
n.4733_4736del
n.4718_4721del
n.4770_4773del
 gnomAD v3 gnomAD v4
14g.45185326T>ACA389608305FANCMc.2837T>A (p.Leu946Ter)
c.403T>A
c.4418T>A (p.Leu1473Ter)
c.*3436T>A (n.*3436T>A)
n.361T>A
n.515T>A
c.4625T>A (p.Leu1542Ter)
c.*2650T>A (n.*2650T>A)
c.4469T>A (p.Leu1490Ter)
n.4573T>A
c.2623T>A
c.3556T>A
c.3457T>A
c.*381T>A (n.*381T>A)
c.3442T>A
n.1362T>A
c.4547T>A (p.Leu1516Ter)
c.1422T>A
n.458T>A
c.3173T>A (p.Leu1058Ter)
c.4640T>A (p.Leu1547Ter)
c.4562T>A (p.Leu1521Ter)
c.2654T>A (p.Leu885Ter)
c.3677T>A (p.Leu1226Ter)
c.3455T>A (p.Leu1152Ter)
c.3440T>A (p.Leu1147Ter)
n.4732T>A
n.4717T>A
n.4769T>A
14g.45185326T>CCA389608306FANCMc.2837T>C (p.Leu946Ser)
c.403T>C
c.4418T>C (p.Leu1473Ser)
c.*3436T>C (n.*3436T>C)
n.361T>C
n.515T>C
c.4625T>C (p.Leu1542Ser)
c.*2650T>C (n.*2650T>C)
c.4469T>C (p.Leu1490Ser)
n.4573T>C
c.2623T>C
c.3556T>C
c.3457T>C
c.*381T>C (n.*381T>C)
c.3442T>C
n.1362T>C
c.4547T>C (p.Leu1516Ser)
c.1422T>C
n.458T>C
c.3173T>C (p.Leu1058Ser)
c.4640T>C (p.Leu1547Ser)
c.4562T>C (p.Leu1521Ser)
c.2654T>C (p.Leu885Ser)
c.3677T>C (p.Leu1226Ser)
c.3455T>C (p.Leu1152Ser)
c.3440T>C (p.Leu1147Ser)
n.4732T>C
n.4717T>C
n.4769T>C
14g.45185326T>GCA389608307FANCMc.2837T>G (p.Leu946Ter)
c.403T>G
c.4418T>G (p.Leu1473Ter)
c.*3436T>G (n.*3436T>G)
n.361T>G
n.515T>G
c.4625T>G (p.Leu1542Ter)
c.*2650T>G (n.*2650T>G)
c.4469T>G (p.Leu1490Ter)
n.4573T>G
c.2623T>G
c.3556T>G
c.3457T>G
c.*381T>G (n.*381T>G)
c.3442T>G
n.1362T>G
c.4547T>G (p.Leu1516Ter)
c.1422T>G
n.458T>G
c.3173T>G (p.Leu1058Ter)
c.4640T>G (p.Leu1547Ter)
c.4562T>G (p.Leu1521Ter)
c.2654T>G (p.Leu885Ter)
c.3677T>G (p.Leu1226Ter)
c.3455T>G (p.Leu1152Ter)
c.3440T>G (p.Leu1147Ter)
n.4732T>G
n.4717T>G
n.4769T>G
14g.45185327A>CCA389608308FANCMc.2838A>C (p.Leu946Phe)
c.404A>C
c.4419A>C (p.Leu1473Phe)
c.*3437A>C (n.*3437A>C)
n.362A>C
n.516A>C
c.4626A>C (p.Leu1542Phe)
c.*2651A>C (n.*2651A>C)
c.4470A>C (p.Leu1490Phe)
n.4574A>C
c.2624A>C
c.3557A>C
c.3458A>C
c.*382A>C (n.*382A>C)
c.3443A>C
n.1363A>C
c.4548A>C (p.Leu1516Phe)
c.1423A>C
n.459A>C
c.3174A>C (p.Leu1058Phe)
c.4641A>C (p.Leu1547Phe)
c.4563A>C (p.Leu1521Phe)
c.2655A>C (p.Leu885Phe)
c.3678A>C (p.Leu1226Phe)
c.3456A>C (p.Leu1152Phe)
c.3441A>C (p.Leu1147Phe)
n.4733A>C
n.4718A>C
n.4770A>C
14g.45185327A>GCA486141398FANCMc.2838A>G (p.Leu946=)
c.404A>G
c.4419A>G (p.Leu1473=)
c.*3437A>G (n.*3437A>G)
n.362A>G
n.516A>G
c.4626A>G (p.Leu1542=)
c.*2651A>G (n.*2651A>G)
c.4470A>G (p.Leu1490=)
n.4574A>G
c.2624A>G
c.3557A>G
c.3458A>G
c.*382A>G (n.*382A>G)
c.3443A>G
n.1363A>G
c.4548A>G (p.Leu1516=)
c.1423A>G
n.459A>G
c.3174A>G (p.Leu1058=)
c.4641A>G (p.Leu1547=)
c.4563A>G (p.Leu1521=)
c.2655A>G (p.Leu885=)
c.3678A>G (p.Leu1226=)
c.3456A>G (p.Leu1152=)
c.3441A>G (p.Leu1147=)
n.4733A>G
n.4718A>G
n.4770A>G
 gnomAD v4
14g.45185327A>TCA389608309FANCMc.2838A>T (p.Leu946Phe)
c.404A>T
c.4419A>T (p.Leu1473Phe)
c.*3437A>T (n.*3437A>T)
n.362A>T
n.516A>T
c.4626A>T (p.Leu1542Phe)
c.*2651A>T (n.*2651A>T)
c.4470A>T (p.Leu1490Phe)
n.4574A>T
c.2624A>T
c.3557A>T
c.3458A>T
c.*382A>T (n.*382A>T)
c.3443A>T
n.1363A>T
c.4548A>T (p.Leu1516Phe)
c.1423A>T
n.459A>T
c.3174A>T (p.Leu1058Phe)
c.4641A>T (p.Leu1547Phe)
c.4563A>T (p.Leu1521Phe)
c.2655A>T (p.Leu885Phe)
c.3678A>T (p.Leu1226Phe)
c.3456A>T (p.Leu1152Phe)
c.3441A>T (p.Leu1147Phe)
n.4733A>T
n.4718A>T
n.4770A>T
14g.45185328C>ACA389608310FANCMc.2839C>A (p.Leu947Ile)
c.405C>A
c.4420C>A (p.Leu1474Ile)
c.*3438C>A (n.*3438C>A)
n.363C>A
n.517C>A
c.4627C>A (p.Leu1543Ile)
c.*2652C>A (n.*2652C>A)
c.4471C>A (p.Leu1491Ile)
n.4575C>A
c.2625C>A
c.3558C>A
c.3459C>A
c.*383C>A (n.*383C>A)
c.3444C>A
n.1364C>A
c.4549C>A (p.Leu1517Ile)
c.1424C>A
n.460C>A
c.3175C>A (p.Leu1059Ile)
c.4642C>A (p.Leu1548Ile)
c.4564C>A (p.Leu1522Ile)
c.2656C>A (p.Leu886Ile)
c.3679C>A (p.Leu1227Ile)
c.3457C>A (p.Leu1153Ile)
c.3442C>A (p.Leu1148Ile)
n.4734C>A
n.4719C>A
n.4771C>A
 dbSNP gnomAD v2 gnomAD v4
14g.45185328C=CA2133624562FANCMc.2839C= (p.Leu947=)
c.405C=
c.4420C= (p.Leu1474=)
c.*3438C= (n.*3438C=)
n.363C=
n.517C=
c.4627C= (p.Leu1543=)
c.*2652C= (n.*2652C=)
c.4471C= (p.Leu1491=)
n.4575C=
c.2625C=
c.3558C=
c.3459C=
c.*383C= (n.*383C=)
c.3444C=
n.1364C=
c.4549C= (p.Leu1517=)
c.1424C=
n.460C=
c.3175C= (p.Leu1059=)
c.4642C= (p.Leu1548=)
c.4564C= (p.Leu1522=)
c.2656C= (p.Leu886=)
c.3679C= (p.Leu1227=)
c.3457C= (p.Leu1153=)
c.3442C= (p.Leu1148=)
n.4734C=
n.4719C=
n.4771C=
14g.45185328C>GCA7169809FANCMc.2839C>G (p.Leu947Val)
c.405C>G
c.4420C>G (p.Leu1474Val)
c.*3438C>G (n.*3438C>G)
n.363C>G
n.517C>G
c.4627C>G (p.Leu1543Val)
c.*2652C>G (n.*2652C>G)
c.4471C>G (p.Leu1491Val)
n.4575C>G
c.2625C>G
c.3558C>G
c.3459C>G
c.*383C>G (n.*383C>G)
c.3444C>G
n.1364C>G
c.4549C>G (p.Leu1517Val)
c.1424C>G
n.460C>G
c.3175C>G (p.Leu1059Val)
c.4642C>G (p.Leu1548Val)
c.4564C>G (p.Leu1522Val)
c.2656C>G (p.Leu886Val)
c.3679C>G (p.Leu1227Val)
c.3457C>G (p.Leu1153Val)
c.3442C>G (p.Leu1148Val)
n.4734C>G
n.4719C>G
n.4771C>G
 dbSNP ExAC gnomAD v4
14g.45185328C>TCA7169808FANCMc.2839C>T (p.Leu947Phe)
c.405C>T
c.4420C>T (p.Leu1474Phe)
c.*3438C>T (n.*3438C>T)
n.363C>T
n.517C>T
c.4627C>T (p.Leu1543Phe)
c.*2652C>T (n.*2652C>T)
c.4471C>T (p.Leu1491Phe)
n.4575C>T
c.2625C>T
c.3558C>T
c.3459C>T
c.*383C>T (n.*383C>T)
c.3444C>T
n.1364C>T
c.4549C>T (p.Leu1517Phe)
c.1424C>T
n.460C>T
c.3175C>T (p.Leu1059Phe)
c.4642C>T (p.Leu1548Phe)
c.4564C>T (p.Leu1522Phe)
c.2656C>T (p.Leu886Phe)
c.3679C>T (p.Leu1227Phe)
c.3457C>T (p.Leu1153Phe)
c.3442C>T (p.Leu1148Phe)
n.4734C>T
n.4719C>T
n.4771C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185329T>ACA389608311FANCMc.2840T>A (p.Leu947His)
c.406T>A
c.4421T>A (p.Leu1474His)
c.*3439T>A (n.*3439T>A)
n.364T>A
n.518T>A
c.4628T>A (p.Leu1543His)
c.*2653T>A (n.*2653T>A)
c.4472T>A (p.Leu1491His)
n.4576T>A
c.2626T>A
c.3559T>A
c.3460T>A
c.*384T>A (n.*384T>A)
c.3445T>A
n.1365T>A
c.4550T>A (p.Leu1517His)
c.1425T>A
n.461T>A
c.3176T>A (p.Leu1059His)
c.4643T>A (p.Leu1548His)
c.4565T>A (p.Leu1522His)
c.2657T>A (p.Leu886His)
c.3680T>A (p.Leu1227His)
c.3458T>A (p.Leu1153His)
c.3443T>A (p.Leu1148His)
n.4735T>A
n.4720T>A
n.4772T>A
14g.45185329T>CCA389608312FANCMc.2840T>C (p.Leu947Pro)
c.406T>C
c.4421T>C (p.Leu1474Pro)
c.*3439T>C (n.*3439T>C)
n.364T>C
n.518T>C
c.4628T>C (p.Leu1543Pro)
c.*2653T>C (n.*2653T>C)
c.4472T>C (p.Leu1491Pro)
n.4576T>C
c.2626T>C
c.3559T>C
c.3460T>C
c.*384T>C (n.*384T>C)
c.3445T>C
n.1365T>C
c.4550T>C (p.Leu1517Pro)
c.1425T>C
n.461T>C
c.3176T>C (p.Leu1059Pro)
c.4643T>C (p.Leu1548Pro)
c.4565T>C (p.Leu1522Pro)
c.2657T>C (p.Leu886Pro)
c.3680T>C (p.Leu1227Pro)
c.3458T>C (p.Leu1153Pro)
c.3443T>C (p.Leu1148Pro)
n.4735T>C
n.4720T>C
n.4772T>C
14g.45185329T>GCA389608313FANCMc.2840T>G (p.Leu947Arg)
c.406T>G
c.4421T>G (p.Leu1474Arg)
c.*3439T>G (n.*3439T>G)
n.364T>G
n.518T>G
c.4628T>G (p.Leu1543Arg)
c.*2653T>G (n.*2653T>G)
c.4472T>G (p.Leu1491Arg)
n.4576T>G
c.2626T>G
c.3559T>G
c.3460T>G
c.*384T>G (n.*384T>G)
c.3445T>G
n.1365T>G
c.4550T>G (p.Leu1517Arg)
c.1425T>G
n.461T>G
c.3176T>G (p.Leu1059Arg)
c.4643T>G (p.Leu1548Arg)
c.4565T>G (p.Leu1522Arg)
c.2657T>G (p.Leu886Arg)
c.3680T>G (p.Leu1227Arg)
c.3458T>G (p.Leu1153Arg)
c.3443T>G (p.Leu1148Arg)
n.4735T>G
n.4720T>G
n.4772T>G
 gnomAD v4
14g.45185330T>ACA7169810FANCMc.2841T>A (p.Leu947=)
c.407T>A
c.4422T>A (p.Leu1474=)
c.*3440T>A (n.*3440T>A)
n.365T>A
n.519T>A
c.4629T>A (p.Leu1543=)
c.*2654T>A (n.*2654T>A)
c.4473T>A (p.Leu1491=)
n.4577T>A
c.2627T>A
c.3560T>A
c.3461T>A
c.*385T>A (n.*385T>A)
c.3446T>A
n.1366T>A
c.4551T>A (p.Leu1517=)
c.1426T>A
n.462T>A
c.3177T>A (p.Leu1059=)
c.4644T>A (p.Leu1548=)
c.4566T>A (p.Leu1522=)
c.2658T>A (p.Leu886=)
c.3681T>A (p.Leu1227=)
c.3459T>A (p.Leu1153=)
c.3444T>A (p.Leu1148=)
n.4736T>A
n.4721T>A
n.4773T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185330T>CCA486141401FANCMc.2841T>C (p.Leu947=)
c.407T>C
c.4422T>C (p.Leu1474=)
c.*3440T>C (n.*3440T>C)
n.365T>C
n.519T>C
c.4629T>C (p.Leu1543=)
c.*2654T>C (n.*2654T>C)
c.4473T>C (p.Leu1491=)
n.4577T>C
c.2627T>C
c.3560T>C
c.3461T>C
c.*385T>C (n.*385T>C)
c.3446T>C
n.1366T>C
c.4551T>C (p.Leu1517=)
c.1426T>C
n.462T>C
c.3177T>C (p.Leu1059=)
c.4644T>C (p.Leu1548=)
c.4566T>C (p.Leu1522=)
c.2658T>C (p.Leu886=)
c.3681T>C (p.Leu1227=)
c.3459T>C (p.Leu1153=)
c.3444T>C (p.Leu1148=)
n.4736T>C
n.4721T>C
n.4773T>C
 dbSNP
14g.45185330T>GCA486141402FANCMc.2841T>G (p.Leu947=)
c.407T>G
c.4422T>G (p.Leu1474=)
c.*3440T>G (n.*3440T>G)
n.365T>G
n.519T>G
c.4629T>G (p.Leu1543=)
c.*2654T>G (n.*2654T>G)
c.4473T>G (p.Leu1491=)
n.4577T>G
c.2627T>G
c.3560T>G
c.3461T>G
c.*385T>G (n.*385T>G)
c.3446T>G
n.1366T>G
c.4551T>G (p.Leu1517=)
c.1426T>G
n.462T>G
c.3177T>G (p.Leu1059=)
c.4644T>G (p.Leu1548=)
c.4566T>G (p.Leu1522=)
c.2658T>G (p.Leu886=)
c.3681T>G (p.Leu1227=)
c.3459T>G (p.Leu1153=)
c.3444T>G (p.Leu1148=)
n.4736T>G
n.4721T>G
n.4773T>G
14g.45185330T=CA2133624565FANCMc.2841T= (p.Leu947=)
c.407T=
c.4422T= (p.Leu1474=)
c.*3440T= (n.*3440T=)
n.365T=
n.519T=
c.4629T= (p.Leu1543=)
c.*2654T= (n.*2654T=)
c.4473T= (p.Leu1491=)
n.4577T=
c.2627T=
c.3560T=
c.3461T=
c.*385T= (n.*385T=)
c.3446T=
n.1366T=
c.4551T= (p.Leu1517=)
c.1426T=
n.462T=
c.3177T= (p.Leu1059=)
c.4644T= (p.Leu1548=)
c.4566T= (p.Leu1522=)
c.2658T= (p.Leu886=)
c.3681T= (p.Leu1227=)
c.3459T= (p.Leu1153=)
c.3444T= (p.Leu1148=)
n.4736T=
n.4721T=
n.4773T=
14g.45185331G>ACA389608316FANCMc.2842G>A (p.Asp948Asn)
c.408G>A
c.4423G>A (p.Asp1475Asn)
c.*3441G>A (n.*3441G>A)
n.366G>A
n.520G>A
c.4630G>A (p.Asp1544Asn)
c.*2655G>A (n.*2655G>A)
c.4474G>A (p.Asp1492Asn)
n.4578G>A
c.2628G>A
c.3561G>A
c.3462G>A
c.*386G>A (n.*386G>A)
c.3447G>A
n.1367G>A
c.4552G>A (p.Asp1518Asn)
c.1427G>A
n.463G>A
c.3178G>A (p.Asp1060Asn)
c.4645G>A (p.Asp1549Asn)
c.4567G>A (p.Asp1523Asn)
c.2659G>A (p.Asp887Asn)
c.3682G>A (p.Asp1228Asn)
c.3460G>A (p.Asp1154Asn)
c.3445G>A (p.Asp1149Asn)
n.4737G>A
n.4722G>A
n.4774G>A
 dbSNP
14g.45185331G>CCA389608315FANCMc.2842G>C (p.Asp948His)
c.408G>C
c.4423G>C (p.Asp1475His)
c.*3441G>C (n.*3441G>C)
n.366G>C
n.520G>C
c.4630G>C (p.Asp1544His)
c.*2655G>C (n.*2655G>C)
c.4474G>C (p.Asp1492His)
n.4578G>C
c.2628G>C
c.3561G>C
c.3462G>C
c.*386G>C (n.*386G>C)
c.3447G>C
n.1367G>C
c.4552G>C (p.Asp1518His)
c.1427G>C
n.463G>C
c.3178G>C (p.Asp1060His)
c.4645G>C (p.Asp1549His)
c.4567G>C (p.Asp1523His)
c.2659G>C (p.Asp887His)
c.3682G>C (p.Asp1228His)
c.3460G>C (p.Asp1154His)
c.3445G>C (p.Asp1149His)
n.4737G>C
n.4722G>C
n.4774G>C
14g.45185331G=CA2133624568FANCMc.2842G= (p.Asp948=)
c.408G=
c.4423G= (p.Asp1475=)
c.*3441G= (n.*3441G=)
n.366G=
n.520G=
c.4630G= (p.Asp1544=)
c.*2655G= (n.*2655G=)
c.4474G= (p.Asp1492=)
n.4578G=
c.2628G=
c.3561G=
c.3462G=
c.*386G= (n.*386G=)
c.3447G=
n.1367G=
c.4552G= (p.Asp1518=)
c.1427G=
n.463G=
c.3178G= (p.Asp1060=)
c.4645G= (p.Asp1549=)
c.4567G= (p.Asp1523=)
c.2659G= (p.Asp887=)
c.3682G= (p.Asp1228=)
c.3460G= (p.Asp1154=)
c.3445G= (p.Asp1149=)
n.4737G=
n.4722G=
n.4774G=
14g.45185331G>TCA389608314FANCMc.2842G>T (p.Asp948Tyr)
c.408G>T
c.4423G>T (p.Asp1475Tyr)
c.*3441G>T (n.*3441G>T)
n.366G>T
n.520G>T
c.4630G>T (p.Asp1544Tyr)
c.*2655G>T (n.*2655G>T)
c.4474G>T (p.Asp1492Tyr)
n.4578G>T
c.2628G>T
c.3561G>T
c.3462G>T
c.*386G>T (n.*386G>T)
c.3447G>T
n.1367G>T
c.4552G>T (p.Asp1518Tyr)
c.1427G>T
n.463G>T
c.3178G>T (p.Asp1060Tyr)
c.4645G>T (p.Asp1549Tyr)
c.4567G>T (p.Asp1523Tyr)
c.2659G>T (p.Asp887Tyr)
c.3682G>T (p.Asp1228Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3445G>T (p.Asp1149Tyr)
n.4737G>T
n.4722G>T
n.4774G>T
14g.45185332A>CCA389608317FANCMc.2843A>C (p.Asp948Ala)
c.409A>C
c.4424A>C (p.Asp1475Ala)
c.*3442A>C (n.*3442A>C)
n.367A>C
n.521A>C
c.4631A>C (p.Asp1544Ala)
c.*2656A>C (n.*2656A>C)
c.4475A>C (p.Asp1492Ala)
n.4579A>C
c.2629A>C
c.3562A>C
c.3463A>C
c.*387A>C (n.*387A>C)
c.3448A>C
n.1368A>C
c.4553A>C (p.Asp1518Ala)
c.1428A>C
n.464A>C
c.3179A>C (p.Asp1060Ala)
c.4646A>C (p.Asp1549Ala)
c.4568A>C (p.Asp1523Ala)
c.2660A>C (p.Asp887Ala)
c.3683A>C (p.Asp1228Ala)
c.3461A>C (p.Asp1154Ala)
c.3446A>C (p.Asp1149Ala)
n.4738A>C
n.4723A>C
n.4775A>C
14g.45185332A>GCA389608319FANCMc.2843A>G (p.Asp948Gly)
c.409A>G
c.4424A>G (p.Asp1475Gly)
c.*3442A>G (n.*3442A>G)
n.367A>G
n.521A>G
c.4631A>G (p.Asp1544Gly)
c.*2656A>G (n.*2656A>G)
c.4475A>G (p.Asp1492Gly)
n.4579A>G
c.2629A>G
c.3562A>G
c.3463A>G
c.*387A>G (n.*387A>G)
c.3448A>G
n.1368A>G
c.4553A>G (p.Asp1518Gly)
c.1428A>G
n.464A>G
c.3179A>G (p.Asp1060Gly)
c.4646A>G (p.Asp1549Gly)
c.4568A>G (p.Asp1523Gly)
c.2660A>G (p.Asp887Gly)
c.3683A>G (p.Asp1228Gly)
c.3461A>G (p.Asp1154Gly)
c.3446A>G (p.Asp1149Gly)
n.4738A>G
n.4723A>G
n.4775A>G
14g.45185332A>TCA389608318FANCMc.2843A>T (p.Asp948Val)
c.409A>T
c.4424A>T (p.Asp1475Val)
c.*3442A>T (n.*3442A>T)
n.367A>T
n.521A>T
c.4631A>T (p.Asp1544Val)
c.*2656A>T (n.*2656A>T)
c.4475A>T (p.Asp1492Val)
n.4579A>T
c.2629A>T
c.3562A>T
c.3463A>T
c.*387A>T (n.*387A>T)
c.3448A>T
n.1368A>T
c.4553A>T (p.Asp1518Val)
c.1428A>T
n.464A>T
c.3179A>T (p.Asp1060Val)
c.4646A>T (p.Asp1549Val)
c.4568A>T (p.Asp1523Val)
c.2660A>T (p.Asp887Val)
c.3683A>T (p.Asp1228Val)
c.3461A>T (p.Asp1154Val)
c.3446A>T (p.Asp1149Val)
n.4738A>T
n.4723A>T
n.4775A>T
14g.45185333C>ACA389608320FANCMc.2844C>A (p.Asp948Glu)
c.410C>A
c.4425C>A (p.Asp1475Glu)
c.*3443C>A (n.*3443C>A)
n.368C>A
n.522C>A
c.4632C>A (p.Asp1544Glu)
c.*2657C>A (n.*2657C>A)
c.4476C>A (p.Asp1492Glu)
n.4580C>A
c.2630C>A
c.3563C>A
c.3464C>A
c.*388C>A (n.*388C>A)
c.3449C>A
n.1369C>A
c.4554C>A (p.Asp1518Glu)
c.1429C>A
n.465C>A
c.3180C>A (p.Asp1060Glu)
c.4647C>A (p.Asp1549Glu)
c.4569C>A (p.Asp1523Glu)
c.2661C>A (p.Asp887Glu)
c.3684C>A (p.Asp1228Glu)
c.3462C>A (p.Asp1154Glu)
c.3447C>A (p.Asp1149Glu)
n.4739C>A
n.4724C>A
n.4776C>A
 gnomAD v4
14g.45185333C>GCA389608321FANCMc.2844C>G (p.Asp948Glu)
c.410C>G
c.4425C>G (p.Asp1475Glu)
c.*3443C>G (n.*3443C>G)
n.368C>G
n.522C>G
c.4632C>G (p.Asp1544Glu)
c.*2657C>G (n.*2657C>G)
c.4476C>G (p.Asp1492Glu)
n.4580C>G
c.2630C>G
c.3563C>G
c.3464C>G
c.*388C>G (n.*388C>G)
c.3449C>G
n.1369C>G
c.4554C>G (p.Asp1518Glu)
c.1429C>G
n.465C>G
c.3180C>G (p.Asp1060Glu)
c.4647C>G (p.Asp1549Glu)
c.4569C>G (p.Asp1523Glu)
c.2661C>G (p.Asp887Glu)
c.3684C>G (p.Asp1228Glu)
c.3462C>G (p.Asp1154Glu)
c.3447C>G (p.Asp1149Glu)
n.4739C>G
n.4724C>G
n.4776C>G
14g.45185333C>TCA486141404FANCMc.2844C>T (p.Asp948=)
c.410C>T
c.4425C>T (p.Asp1475=)
c.*3443C>T (n.*3443C>T)
n.368C>T
n.522C>T
c.4632C>T (p.Asp1544=)
c.*2657C>T (n.*2657C>T)
c.4476C>T (p.Asp1492=)
n.4580C>T
c.2630C>T
c.3563C>T
c.3464C>T
c.*388C>T (n.*388C>T)
c.3449C>T
n.1369C>T
c.4554C>T (p.Asp1518=)
c.1429C>T
n.465C>T
c.3180C>T (p.Asp1060=)
c.4647C>T (p.Asp1549=)
c.4569C>T (p.Asp1523=)
c.2661C>T (p.Asp887=)
c.3684C>T (p.Asp1228=)
c.3462C>T (p.Asp1154=)
c.3447C>T (p.Asp1149=)
n.4739C>T
n.4724C>T
n.4776C>T
14g.45185334T>ACA389608322FANCMc.2845T>A (p.Phe949Ile)
c.411T>A
c.4426T>A (p.Phe1476Ile)
c.*3444T>A (n.*3444T>A)
n.369T>A
n.523T>A
c.4633T>A (p.Phe1545Ile)
c.*2658T>A (n.*2658T>A)
c.4477T>A (p.Phe1493Ile)
n.4581T>A
c.2631T>A
c.3564T>A
c.3465T>A
c.*389T>A (n.*389T>A)
c.3450T>A
n.1370T>A
c.4555T>A (p.Phe1519Ile)
c.1430T>A
n.466T>A
c.3181T>A (p.Phe1061Ile)
c.4648T>A (p.Phe1550Ile)
c.4570T>A (p.Phe1524Ile)
c.2662T>A (p.Phe888Ile)
c.3685T>A (p.Phe1229Ile)
c.3463T>A (p.Phe1155Ile)
c.3448T>A (p.Phe1150Ile)
n.4740T>A
n.4725T>A
n.4777T>A
14g.45185334T>CCA389608323FANCMc.2845T>C (p.Phe949Leu)
c.411T>C
c.4426T>C (p.Phe1476Leu)
c.*3444T>C (n.*3444T>C)
n.369T>C
n.523T>C
c.4633T>C (p.Phe1545Leu)
c.*2658T>C (n.*2658T>C)
c.4477T>C (p.Phe1493Leu)
n.4581T>C
c.2631T>C
c.3564T>C
c.3465T>C
c.*389T>C (n.*389T>C)
c.3450T>C
n.1370T>C
c.4555T>C (p.Phe1519Leu)
c.1430T>C
n.466T>C
c.3181T>C (p.Phe1061Leu)
c.4648T>C (p.Phe1550Leu)
c.4570T>C (p.Phe1524Leu)
c.2662T>C (p.Phe888Leu)
c.3685T>C (p.Phe1229Leu)
c.3463T>C (p.Phe1155Leu)
c.3448T>C (p.Phe1150Leu)
n.4740T>C
n.4725T>C
n.4777T>C
14g.45185334T>GCA389608324FANCMc.2845T>G (p.Phe949Val)
c.411T>G
c.4426T>G (p.Phe1476Val)
c.*3444T>G (n.*3444T>G)
n.369T>G
n.523T>G
c.4633T>G (p.Phe1545Val)
c.*2658T>G (n.*2658T>G)
c.4477T>G (p.Phe1493Val)
n.4581T>G
c.2631T>G
c.3564T>G
c.3465T>G
c.*389T>G (n.*389T>G)
c.3450T>G
n.1370T>G
c.4555T>G (p.Phe1519Val)
c.1430T>G
n.466T>G
c.3181T>G (p.Phe1061Val)
c.4648T>G (p.Phe1550Val)
c.4570T>G (p.Phe1524Val)
c.2662T>G (p.Phe888Val)
c.3685T>G (p.Phe1229Val)
c.3463T>G (p.Phe1155Val)
c.3448T>G (p.Phe1150Val)
n.4740T>G
n.4725T>G
n.4777T>G
 gnomAD v4
14g.45185334_45185338delinsTTTTTCA2133624569FANCMc.2845_2849delinsTTTTT (p.Phe949=)
c.411_415delinsTTTTT
c.4426_4430delinsTTTTT (p.Phe1476=)
c.*3444_*3448delinsTTTTT (n.*3444_*3448delinsTTTTT)
n.369_373delinsTTTTT
n.523_527delinsTTTTT
c.4633_4637delinsTTTTT (p.Phe1545=)
c.*2658_*2662delinsTTTTT (n.*2658_*2662delinsTTTTT)
c.4477_4481delinsTTTTT (p.Phe1493=)
n.4581_4585delinsTTTTT
c.2631_2635delinsTTTTT
c.3564_3568delinsTTTTT
c.3465_3469delinsTTTTT
c.*389_*393delinsTTTTT (n.*389_*393delinsTTTTT)
c.3450_3454delinsTTTTT
n.1370_1374delinsTTTTT
c.4555_4559delinsTTTTT (p.Phe1519=)
c.1430_1434delinsTTTTT
n.466_470delinsTTTTT
c.3181_3185delinsTTTTT (p.Phe1061=)
c.4648_4652delinsTTTTT (p.Phe1550=)
c.4570_4574delinsTTTTT (p.Phe1524=)
c.2662_2666delinsTTTTT (p.Phe888=)
c.3685_3689delinsTTTTT (p.Phe1229=)
c.3463_3467delinsTTTTT (p.Phe1155=)
c.3448_3452delinsTTTTT (p.Phe1150=)
n.4740_4744delinsTTTTT
n.4725_4729delinsTTTTT
n.4777_4781delinsTTTTT
14g.45185335T>ACA389608325FANCMc.2846T>A (p.Phe949Tyr)
c.412T>A
c.4427T>A (p.Phe1476Tyr)
c.*3445T>A (n.*3445T>A)
n.370T>A
n.524T>A
c.4634T>A (p.Phe1545Tyr)
c.*2659T>A (n.*2659T>A)
c.4478T>A (p.Phe1493Tyr)
n.4582T>A
c.2632T>A
c.3565T>A
c.3466T>A
c.*390T>A (n.*390T>A)
c.3451T>A
n.1371T>A
c.4556T>A (p.Phe1519Tyr)
c.1431T>A
n.467T>A
c.3182T>A (p.Phe1061Tyr)
c.4649T>A (p.Phe1550Tyr)
c.4571T>A (p.Phe1524Tyr)
c.2663T>A (p.Phe888Tyr)
c.3686T>A (p.Phe1229Tyr)
c.3464T>A (p.Phe1155Tyr)
c.3449T>A (p.Phe1150Tyr)
n.4741T>A
n.4726T>A
n.4778T>A
14g.45185335T>CCA389608326FANCMc.2846T>C (p.Phe949Ser)
c.412T>C
c.4427T>C (p.Phe1476Ser)
c.*3445T>C (n.*3445T>C)
n.370T>C
n.524T>C
c.4634T>C (p.Phe1545Ser)
c.*2659T>C (n.*2659T>C)
c.4478T>C (p.Phe1493Ser)
n.4582T>C
c.2632T>C
c.3565T>C
c.3466T>C
c.*390T>C (n.*390T>C)
c.3451T>C
n.1371T>C
c.4556T>C (p.Phe1519Ser)
c.1431T>C
n.467T>C
c.3182T>C (p.Phe1061Ser)
c.4649T>C (p.Phe1550Ser)
c.4571T>C (p.Phe1524Ser)
c.2663T>C (p.Phe888Ser)
c.3686T>C (p.Phe1229Ser)
c.3464T>C (p.Phe1155Ser)
c.3449T>C (p.Phe1150Ser)
n.4741T>C
n.4726T>C
n.4778T>C
 gnomAD v4
14g.45185335T>GCA389608327FANCMc.2846T>G (p.Phe949Cys)
c.412T>G
c.4427T>G (p.Phe1476Cys)
c.*3445T>G (n.*3445T>G)
n.370T>G
n.524T>G
c.4634T>G (p.Phe1545Cys)
c.*2659T>G (n.*2659T>G)
c.4478T>G (p.Phe1493Cys)
n.4582T>G
c.2632T>G
c.3565T>G
c.3466T>G
c.*390T>G (n.*390T>G)
c.3451T>G
n.1371T>G
c.4556T>G (p.Phe1519Cys)
c.1431T>G
n.467T>G
c.3182T>G (p.Phe1061Cys)
c.4649T>G (p.Phe1550Cys)
c.4571T>G (p.Phe1524Cys)
c.2663T>G (p.Phe888Cys)
c.3686T>G (p.Phe1229Cys)
c.3464T>G (p.Phe1155Cys)
c.3449T>G (p.Phe1150Cys)
n.4741T>G
n.4726T>G
n.4778T>G
14g.45185335_45185338delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTCCA915948921FANCMc.2846_2849delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe949SerfsTer7)
c.412_415delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.4427_4430delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1476SerfsTer7)
c.*3445_*3448delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (n.*3445_*3448delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC)
n.370_373delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
n.524_527delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545SerfsTer7)
c.*2659_*2662delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (n.*2659_*2662delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC)
c.4478_4481delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1493SerfsTer7)
n.4582_4585delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.2632_2635delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.3565_3568delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.3466_3469delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.*390_*393delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (n.*390_*393delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC)
c.3451_3454delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
n.1371_1374delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.4556_4559delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1519SerfsTer7)
c.1431_1434delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
n.467_470delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
c.3182_3185delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1061SerfsTer7)
c.4649_4652delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1550SerfsTer7)
c.4571_4574delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1524SerfsTer7)
c.2663_2666delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe888SerfsTer7)
c.3686_3689delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1229SerfsTer7)
c.3464_3467delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1155SerfsTer7)
c.3449_3452delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1150SerfsTer7)
n.4741_4744delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
n.4726_4729delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
n.4778_4781delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC
 ClinVar dbSNP
14g.45185336T>ACA389608328FANCMc.2847T>A (p.Phe949Leu)
c.413T>A
c.4428T>A (p.Phe1476Leu)
c.*3446T>A (n.*3446T>A)
n.371T>A
n.525T>A
c.4635T>A (p.Phe1545Leu)
c.*2660T>A (n.*2660T>A)
c.4479T>A (p.Phe1493Leu)
n.4583T>A
c.2633T>A
c.3566T>A
c.3467T>A
c.*391T>A (n.*391T>A)
c.3452T>A
n.1372T>A
c.4557T>A (p.Phe1519Leu)
c.1432T>A
n.468T>A
c.3183T>A (p.Phe1061Leu)
c.4650T>A (p.Phe1550Leu)
c.4572T>A (p.Phe1524Leu)
c.2664T>A (p.Phe888Leu)
c.3687T>A (p.Phe1229Leu)
c.3465T>A (p.Phe1155Leu)
c.3450T>A (p.Phe1150Leu)
n.4742T>A
n.4727T>A
n.4779T>A
14g.45185336T>CCA486141407FANCMc.2847T>C (p.Phe949=)
c.413T>C
c.4428T>C (p.Phe1476=)
c.*3446T>C (n.*3446T>C)
n.371T>C
n.525T>C
c.4635T>C (p.Phe1545=)
c.*2660T>C (n.*2660T>C)
c.4479T>C (p.Phe1493=)
n.4583T>C
c.2633T>C
c.3566T>C
c.3467T>C
c.*391T>C (n.*391T>C)
c.3452T>C
n.1372T>C
c.4557T>C (p.Phe1519=)
c.1432T>C
n.468T>C
c.3183T>C (p.Phe1061=)
c.4650T>C (p.Phe1550=)
c.4572T>C (p.Phe1524=)
c.2664T>C (p.Phe888=)
c.3687T>C (p.Phe1229=)
c.3465T>C (p.Phe1155=)
c.3450T>C (p.Phe1150=)
n.4742T>C
n.4727T>C
n.4779T>C
 dbSNP gnomAD v2
14g.45185336T>GCA389608329FANCMc.2847T>G (p.Phe949Leu)
c.413T>G
c.4428T>G (p.Phe1476Leu)
c.*3446T>G (n.*3446T>G)
n.371T>G
n.525T>G
c.4635T>G (p.Phe1545Leu)
c.*2660T>G (n.*2660T>G)
c.4479T>G (p.Phe1493Leu)
n.4583T>G
c.2633T>G
c.3566T>G
c.3467T>G
c.*391T>G (n.*391T>G)
c.3452T>G
n.1372T>G
c.4557T>G (p.Phe1519Leu)
c.1432T>G
n.468T>G
c.3183T>G (p.Phe1061Leu)
c.4650T>G (p.Phe1550Leu)
c.4572T>G (p.Phe1524Leu)
c.2664T>G (p.Phe888Leu)
c.3687T>G (p.Phe1229Leu)
c.3465T>G (p.Phe1155Leu)
c.3450T>G (p.Phe1150Leu)
n.4742T>G
n.4727T>G
n.4779T>G
14g.45185336T=CA2133624572FANCMc.2847T= (p.Phe949=)
c.413T=
c.4428T= (p.Phe1476=)
c.*3446T= (n.*3446T=)
n.371T=
n.525T=
c.4635T= (p.Phe1545=)
c.*2660T= (n.*2660T=)
c.4479T= (p.Phe1493=)
n.4583T=
c.2633T=
c.3566T=
c.3467T=
c.*391T= (n.*391T=)
c.3452T=
n.1372T=
c.4557T= (p.Phe1519=)
c.1432T=
n.468T=
c.3183T= (p.Phe1061=)
c.4650T= (p.Phe1550=)
c.4572T= (p.Phe1524=)
c.2664T= (p.Phe888=)
c.3687T= (p.Phe1229=)
c.3465T= (p.Phe1155=)
c.3450T= (p.Phe1150=)
n.4742T=
n.4727T=
n.4779T=
14g.45185337T>ACA389608330FANCMc.2848T>A (p.Leu950Ile)
c.414T>A
c.4429T>A (p.Leu1477Ile)
c.*3447T>A (n.*3447T>A)
n.372T>A
n.526T>A
c.4636T>A (p.Leu1546Ile)
c.*2661T>A (n.*2661T>A)
c.4480T>A (p.Leu1494Ile)
n.4584T>A
c.2634T>A
c.3567T>A
c.3468T>A
c.*392T>A (n.*392T>A)
c.3453T>A
n.1373T>A
c.4558T>A (p.Leu1520Ile)
c.1433T>A
n.469T>A
c.3184T>A (p.Leu1062Ile)
c.4651T>A (p.Leu1551Ile)
c.4573T>A (p.Leu1525Ile)
c.2665T>A (p.Leu889Ile)
c.3688T>A (p.Leu1230Ile)
c.3466T>A (p.Leu1156Ile)
c.3451T>A (p.Leu1151Ile)
n.4743T>A
n.4728T>A
n.4780T>A
14g.45185337T>CCA486141409FANCMc.2848T>C (p.Leu950=)
c.414T>C
c.4429T>C (p.Leu1477=)
c.*3447T>C (n.*3447T>C)
n.372T>C
n.526T>C
c.4636T>C (p.Leu1546=)
c.*2661T>C (n.*2661T>C)
c.4480T>C (p.Leu1494=)
n.4584T>C
c.2634T>C
c.3567T>C
c.3468T>C
c.*392T>C (n.*392T>C)
c.3453T>C
n.1373T>C
c.4558T>C (p.Leu1520=)
c.1433T>C
n.469T>C
c.3184T>C (p.Leu1062=)
c.4651T>C (p.Leu1551=)
c.4573T>C (p.Leu1525=)
c.2665T>C (p.Leu889=)
c.3688T>C (p.Leu1230=)
c.3466T>C (p.Leu1156=)
c.3451T>C (p.Leu1151=)
n.4743T>C
n.4728T>C
n.4780T>C
14g.45185337T>GCA389608331FANCMc.2848T>G (p.Leu950Val)
c.414T>G
c.4429T>G (p.Leu1477Val)
c.*3447T>G (n.*3447T>G)
n.372T>G
n.526T>G
c.4636T>G (p.Leu1546Val)
c.*2661T>G (n.*2661T>G)
c.4480T>G (p.Leu1494Val)
n.4584T>G
c.2634T>G
c.3567T>G
c.3468T>G
c.*392T>G (n.*392T>G)
c.3453T>G
n.1373T>G
c.4558T>G (p.Leu1520Val)
c.1433T>G
n.469T>G
c.3184T>G (p.Leu1062Val)
c.4651T>G (p.Leu1551Val)
c.4573T>G (p.Leu1525Val)
c.2665T>G (p.Leu889Val)
c.3688T>G (p.Leu1230Val)
c.3466T>G (p.Leu1156Val)
c.3451T>G (p.Leu1151Val)
n.4743T>G
n.4728T>G
n.4780T>G
14g.45185338T>ACA389608333FANCMc.2849T>A (p.Leu950Ter)
c.415T>A
c.4430T>A (p.Leu1477Ter)
c.*3448T>A (n.*3448T>A)
n.373T>A
n.527T>A
c.4637T>A (p.Leu1546Ter)
c.*2662T>A (n.*2662T>A)
c.4481T>A (p.Leu1494Ter)
n.4585T>A
c.2635T>A
c.3568T>A
c.3469T>A
c.*393T>A (n.*393T>A)
c.3454T>A
n.1374T>A
c.4559T>A (p.Leu1520Ter)
c.1434T>A
n.470T>A
c.3185T>A (p.Leu1062Ter)
c.4652T>A (p.Leu1551Ter)
c.4574T>A (p.Leu1525Ter)
c.2666T>A (p.Leu889Ter)
c.3689T>A (p.Leu1230Ter)
c.3467T>A (p.Leu1156Ter)
c.3452T>A (p.Leu1151Ter)
n.4744T>A
n.4729T>A
n.4781T>A
14g.45185338T>CCA389608332FANCMc.2849T>C (p.Leu950Ser)
c.415T>C
c.4430T>C (p.Leu1477Ser)
c.*3448T>C (n.*3448T>C)
n.373T>C
n.527T>C
c.4637T>C (p.Leu1546Ser)
c.*2662T>C (n.*2662T>C)
c.4481T>C (p.Leu1494Ser)
n.4585T>C
c.2635T>C
c.3568T>C
c.3469T>C
c.*393T>C (n.*393T>C)
c.3454T>C
n.1374T>C
c.4559T>C (p.Leu1520Ser)
c.1434T>C
n.470T>C
c.3185T>C (p.Leu1062Ser)
c.4652T>C (p.Leu1551Ser)
c.4574T>C (p.Leu1525Ser)
c.2666T>C (p.Leu889Ser)
c.3689T>C (p.Leu1230Ser)
c.3467T>C (p.Leu1156Ser)
c.3452T>C (p.Leu1151Ser)
n.4744T>C
n.4729T>C
n.4781T>C
14g.45185338T>GCA7169811FANCMc.2849T>G (p.Leu950Ter)
c.415T>G
c.4430T>G (p.Leu1477Ter)
c.*3448T>G (n.*3448T>G)
n.373T>G
n.527T>G
c.4637T>G (p.Leu1546Ter)
c.*2662T>G (n.*2662T>G)
c.4481T>G (p.Leu1494Ter)
n.4585T>G
c.2635T>G
c.3568T>G
c.3469T>G
c.*393T>G (n.*393T>G)
c.3454T>G
n.1374T>G
c.4559T>G (p.Leu1520Ter)
c.1434T>G
n.470T>G
c.3185T>G (p.Leu1062Ter)
c.4652T>G (p.Leu1551Ter)
c.4574T>G (p.Leu1525Ter)
c.2666T>G (p.Leu889Ter)
c.3689T>G (p.Leu1230Ter)
c.3467T>G (p.Leu1156Ter)
c.3452T>G (p.Leu1151Ter)
n.4744T>G
n.4729T>G
n.4781T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185338T=CA2133624574FANCMc.2849T= (p.Leu950=)
c.415T=
c.4430T= (p.Leu1477=)
c.*3448T= (n.*3448T=)
n.373T=
n.527T=
c.4637T= (p.Leu1546=)
c.*2662T= (n.*2662T=)
c.4481T= (p.Leu1494=)
n.4585T=
c.2635T=
c.3568T=
c.3469T=
c.*393T= (n.*393T=)
c.3454T=
n.1374T=
c.4559T= (p.Leu1520=)
c.1434T=
n.470T=
c.3185T= (p.Leu1062=)
c.4652T= (p.Leu1551=)
c.4574T= (p.Leu1525=)
c.2666T= (p.Leu889=)
c.3689T= (p.Leu1230=)
c.3467T= (p.Leu1156=)
c.3452T= (p.Leu1151=)
n.4744T=
n.4729T=
n.4781T=
14g.45185339A>CCA389608334FANCMc.2850A>C (p.Leu950Phe)
c.416A>C
c.4431A>C (p.Leu1477Phe)
c.*3449A>C (n.*3449A>C)
n.374A>C
n.528A>C
c.4638A>C (p.Leu1546Phe)
c.*2663A>C (n.*2663A>C)
c.4482A>C (p.Leu1494Phe)
n.4586A>C
c.2636A>C
c.3569A>C
c.3470A>C
c.*394A>C (n.*394A>C)
c.3455A>C
n.1375A>C
c.4560A>C (p.Leu1520Phe)
c.1435A>C
n.471A>C
c.3186A>C (p.Leu1062Phe)
c.4653A>C (p.Leu1551Phe)
c.4575A>C (p.Leu1525Phe)
c.2667A>C (p.Leu889Phe)
c.3690A>C (p.Leu1230Phe)
c.3468A>C (p.Leu1156Phe)
c.3453A>C (p.Leu1151Phe)
n.4745A>C
n.4730A>C
n.4782A>C
 gnomAD v4
14g.45185339A>GCA486141412FANCMc.2850A>G (p.Leu950=)
c.416A>G
c.4431A>G (p.Leu1477=)
c.*3449A>G (n.*3449A>G)
n.374A>G
n.528A>G
c.4638A>G (p.Leu1546=)
c.*2663A>G (n.*2663A>G)
c.4482A>G (p.Leu1494=)
n.4586A>G
c.2636A>G
c.3569A>G
c.3470A>G
c.*394A>G (n.*394A>G)
c.3455A>G
n.1375A>G
c.4560A>G (p.Leu1520=)
c.1435A>G
n.471A>G
c.3186A>G (p.Leu1062=)
c.4653A>G (p.Leu1551=)
c.4575A>G (p.Leu1525=)
c.2667A>G (p.Leu889=)
c.3690A>G (p.Leu1230=)
c.3468A>G (p.Leu1156=)
c.3453A>G (p.Leu1151=)
n.4745A>G
n.4730A>G
n.4782A>G
14g.45185339A>TCA389608335FANCMc.2850A>T (p.Leu950Phe)
c.416A>T
c.4431A>T (p.Leu1477Phe)
c.*3449A>T (n.*3449A>T)
n.374A>T
n.528A>T
c.4638A>T (p.Leu1546Phe)
c.*2663A>T (n.*2663A>T)
c.4482A>T (p.Leu1494Phe)
n.4586A>T
c.2636A>T
c.3569A>T
c.3470A>T
c.*394A>T (n.*394A>T)
c.3455A>T
n.1375A>T
c.4560A>T (p.Leu1520Phe)
c.1435A>T
n.471A>T
c.3186A>T (p.Leu1062Phe)
c.4653A>T (p.Leu1551Phe)
c.4575A>T (p.Leu1525Phe)
c.2667A>T (p.Leu889Phe)
c.3690A>T (p.Leu1230Phe)
c.3468A>T (p.Leu1156Phe)
c.3453A>T (p.Leu1151Phe)
n.4745A>T
n.4730A>T
n.4782A>T
14g.45185340A>CCA389608336FANCMc.2851A>C (p.Asn951His)
c.417A>C
c.4432A>C (p.Asn1478His)
c.*3450A>C (n.*3450A>C)
n.375A>C
n.529A>C
c.4639A>C (p.Asn1547His)
c.*2664A>C (n.*2664A>C)
c.4483A>C (p.Asn1495His)
n.4587A>C
c.2637A>C
c.3570A>C
c.3471A>C
c.*395A>C (n.*395A>C)
c.3456A>C
n.1376A>C
c.4561A>C (p.Asn1521His)
c.1436A>C
n.472A>C
c.3187A>C (p.Asn1063His)
c.4654A>C (p.Asn1552His)
c.4576A>C (p.Asn1526His)
c.2668A>C (p.Asn890His)
c.3691A>C (p.Asn1231His)
c.3469A>C (p.Asn1157His)
c.3454A>C (p.Asn1152His)
n.4746A>C
n.4731A>C
n.4783A>C
14g.45185340A>GCA389608337FANCMc.2851A>G (p.Asn951Asp)
c.417A>G
c.4432A>G (p.Asn1478Asp)
c.*3450A>G (n.*3450A>G)
n.375A>G
n.529A>G
c.4639A>G (p.Asn1547Asp)
c.*2664A>G (n.*2664A>G)
c.4483A>G (p.Asn1495Asp)
n.4587A>G
c.2637A>G
c.3570A>G
c.3471A>G
c.*395A>G (n.*395A>G)
c.3456A>G
n.1376A>G
c.4561A>G (p.Asn1521Asp)
c.1436A>G
n.472A>G
c.3187A>G (p.Asn1063Asp)
c.4654A>G (p.Asn1552Asp)
c.4576A>G (p.Asn1526Asp)
c.2668A>G (p.Asn890Asp)
c.3691A>G (p.Asn1231Asp)
c.3469A>G (p.Asn1157Asp)
c.3454A>G (p.Asn1152Asp)
n.4746A>G
n.4731A>G
n.4783A>G
14g.45185340A>TCA389608338FANCMc.2851A>T (p.Asn951Tyr)
c.417A>T
c.4432A>T (p.Asn1478Tyr)
c.*3450A>T (n.*3450A>T)
n.375A>T
n.529A>T
c.4639A>T (p.Asn1547Tyr)
c.*2664A>T (n.*2664A>T)
c.4483A>T (p.Asn1495Tyr)
n.4587A>T
c.2637A>T
c.3570A>T
c.3471A>T
c.*395A>T (n.*395A>T)
c.3456A>T
n.1376A>T
c.4561A>T (p.Asn1521Tyr)
c.1436A>T
n.472A>T
c.3187A>T (p.Asn1063Tyr)
c.4654A>T (p.Asn1552Tyr)
c.4576A>T (p.Asn1526Tyr)
c.2668A>T (p.Asn890Tyr)
c.3691A>T (p.Asn1231Tyr)
c.3469A>T (p.Asn1157Tyr)
c.3454A>T (p.Asn1152Tyr)
n.4746A>T
n.4731A>T
n.4783A>T
14g.45185341A>CCA389608339FANCMc.2852A>C (p.Asn951Thr)
c.418A>C
c.4433A>C (p.Asn1478Thr)
c.*3451A>C (n.*3451A>C)
n.376A>C
n.530A>C
c.4640A>C (p.Asn1547Thr)
c.*2665A>C (n.*2665A>C)
c.4484A>C (p.Asn1495Thr)
n.4588A>C
c.2638A>C
c.3571A>C
c.3472A>C
c.*396A>C (n.*396A>C)
c.3457A>C
n.1377A>C
c.4562A>C (p.Asn1521Thr)
c.1437A>C
n.473A>C
c.3188A>C (p.Asn1063Thr)
c.4655A>C (p.Asn1552Thr)
c.4577A>C (p.Asn1526Thr)
c.2669A>C (p.Asn890Thr)
c.3692A>C (p.Asn1231Thr)
c.3470A>C (p.Asn1157Thr)
c.3455A>C (p.Asn1152Thr)
n.4747A>C
n.4732A>C
n.4784A>C
14g.45185341A>GCA389608340FANCMc.2852A>G (p.Asn951Ser)
c.418A>G
c.4433A>G (p.Asn1478Ser)
c.*3451A>G (n.*3451A>G)
n.376A>G
n.530A>G
c.4640A>G (p.Asn1547Ser)
c.*2665A>G (n.*2665A>G)
c.4484A>G (p.Asn1495Ser)
n.4588A>G
c.2638A>G
c.3571A>G
c.3472A>G
c.*396A>G (n.*396A>G)
c.3457A>G
n.1377A>G
c.4562A>G (p.Asn1521Ser)
c.1437A>G
n.473A>G
c.3188A>G (p.Asn1063Ser)
c.4655A>G (p.Asn1552Ser)
c.4577A>G (p.Asn1526Ser)
c.2669A>G (p.Asn890Ser)
c.3692A>G (p.Asn1231Ser)
c.3470A>G (p.Asn1157Ser)
c.3455A>G (p.Asn1152Ser)
n.4747A>G
n.4732A>G
n.4784A>G
 ClinVar gnomAD v4
14g.45185341A>TCA389608341FANCMc.2852A>T (p.Asn951Ile)
c.418A>T
c.4433A>T (p.Asn1478Ile)
c.*3451A>T (n.*3451A>T)
n.376A>T
n.530A>T
c.4640A>T (p.Asn1547Ile)
c.*2665A>T (n.*2665A>T)
c.4484A>T (p.Asn1495Ile)
n.4588A>T
c.2638A>T
c.3571A>T
c.3472A>T
c.*396A>T (n.*396A>T)
c.3457A>T
n.1377A>T
c.4562A>T (p.Asn1521Ile)
c.1437A>T
n.473A>T
c.3188A>T (p.Asn1063Ile)
c.4655A>T (p.Asn1552Ile)
c.4577A>T (p.Asn1526Ile)
c.2669A>T (p.Asn890Ile)
c.3692A>T (p.Asn1231Ile)
c.3470A>T (p.Asn1157Ile)
c.3455A>T (p.Asn1152Ile)
n.4747A>T
n.4732A>T
n.4784A>T
14g.45185341_45185342delinsATCA2133624576FANCMc.2852_2853delinsAT (p.Asn951=)
c.418_419delinsAT
c.4433_4434delinsAT (p.Asn1478=)
c.*3451_*3452delinsAT (n.*3451_*3452delinsAT)
n.376_377delinsAT
n.530_531delinsAT
c.4640_4641delinsAT (p.Asn1547=)
c.*2665_*2666delinsAT (n.*2665_*2666delinsAT)
c.4484_4485delinsAT (p.Asn1495=)
n.4588_4589delinsAT
c.2638_2639delinsAT
c.3571_3572delinsAT
c.3472_3473delinsAT
c.*396_*397delinsAT (n.*396_*397delinsAT)
c.3457_3458delinsAT
n.1377_1378delinsAT
c.4562_4563delinsAT (p.Asn1521=)
c.1437_1438delinsAT
n.473_474delinsAT
c.3188_3189delinsAT (p.Asn1063=)
c.4655_4656delinsAT (p.Asn1552=)
c.4577_4578delinsAT (p.Asn1526=)
c.2669_2670delinsAT (p.Asn890=)
c.3692_3693delinsAT (p.Asn1231=)
c.3470_3471delinsAT (p.Asn1157=)
c.3455_3456delinsAT (p.Asn1152=)
n.4747_4748delinsAT
n.4732_4733delinsAT
n.4784_4785delinsAT
14g.45185342delCA915940390FANCMc.2853del (p.Asn951LysfsTer10)
c.419del
c.4434del (p.Asn1478LysfsTer10)
c.*3452del (n.*3452del)
n.377del
n.531del
c.4641del (p.Asn1547LysfsTer10)
c.*2666del (n.*2666del)
c.4485del (p.Asn1495LysfsTer10)
n.4589del
c.2639del
c.3572del
c.3473del
c.*397del (n.*397del)
c.3458del
n.1378del
c.4563del (p.Asn1521LysfsTer10)
c.1438del
n.474del
c.3189del (p.Asn1063LysfsTer10)
c.4656del (p.Asn1552LysfsTer10)
c.4578del (p.Asn1526LysfsTer10)
c.2670del (p.Asn890LysfsTer10)
c.3693del (p.Asn1231LysfsTer10)
c.3471del (p.Asn1157LysfsTer10)
c.3456del (p.Asn1152LysfsTer10)
n.4748del
n.4733del
n.4785del
 ClinVar dbSNP
14g.45185342T>ACA259634605FANCMc.2853T>A (p.Asn951Lys)
c.419T>A
c.4434T>A (p.Asn1478Lys)
c.*3452T>A (n.*3452T>A)
n.377T>A
n.531T>A
c.4641T>A (p.Asn1547Lys)
c.*2666T>A (n.*2666T>A)
c.4485T>A (p.Asn1495Lys)
n.4589T>A
c.2639T>A
c.3572T>A
c.3473T>A
c.*397T>A (n.*397T>A)
c.3458T>A
n.1378T>A
c.4563T>A (p.Asn1521Lys)
c.1438T>A
n.474T>A
c.3189T>A (p.Asn1063Lys)
c.4656T>A (p.Asn1552Lys)
c.4578T>A (p.Asn1526Lys)
c.2670T>A (p.Asn890Lys)
c.3693T>A (p.Asn1231Lys)
c.3471T>A (p.Asn1157Lys)
c.3456T>A (p.Asn1152Lys)
n.4748T>A
n.4733T>A
n.4785T>A
 ClinVar dbSNP gnomAD v4
14g.45185342T>CCA486141414FANCMc.2853T>C (p.Asn951=)
c.419T>C
c.4434T>C (p.Asn1478=)
c.*3452T>C (n.*3452T>C)
n.377T>C
n.531T>C
c.4641T>C (p.Asn1547=)
c.*2666T>C (n.*2666T>C)
c.4485T>C (p.Asn1495=)
n.4589T>C
c.2639T>C
c.3572T>C
c.3473T>C
c.*397T>C (n.*397T>C)
c.3458T>C
n.1378T>C
c.4563T>C (p.Asn1521=)
c.1438T>C
n.474T>C
c.3189T>C (p.Asn1063=)
c.4656T>C (p.Asn1552=)
c.4578T>C (p.Asn1526=)
c.2670T>C (p.Asn890=)
c.3693T>C (p.Asn1231=)
c.3471T>C (p.Asn1157=)
c.3456T>C (p.Asn1152=)
n.4748T>C
n.4733T>C
n.4785T>C
14g.45185342T>GCA389608342FANCMc.2853T>G (p.Asn951Lys)
c.419T>G
c.4434T>G (p.Asn1478Lys)
c.*3452T>G (n.*3452T>G)
n.377T>G
n.531T>G
c.4641T>G (p.Asn1547Lys)
c.*2666T>G (n.*2666T>G)
c.4485T>G (p.Asn1495Lys)
n.4589T>G
c.2639T>G
c.3572T>G
c.3473T>G
c.*397T>G (n.*397T>G)
c.3458T>G
n.1378T>G
c.4563T>G (p.Asn1521Lys)
c.1438T>G
n.474T>G
c.3189T>G (p.Asn1063Lys)
c.4656T>G (p.Asn1552Lys)
c.4578T>G (p.Asn1526Lys)
c.2670T>G (p.Asn890Lys)
c.3693T>G (p.Asn1231Lys)
c.3471T>G (p.Asn1157Lys)
c.3456T>G (p.Asn1152Lys)
n.4748T>G
n.4733T>G
n.4785T>G
14g.45185342T=CA2133624579FANCMc.2853T= (p.Asn951=)
c.419T=
c.4434T= (p.Asn1478=)
c.*3452T= (n.*3452T=)
n.377T=
n.531T=
c.4641T= (p.Asn1547=)
c.*2666T= (n.*2666T=)
c.4485T= (p.Asn1495=)
n.4589T=
c.2639T=
c.3572T=
c.3473T=
c.*397T= (n.*397T=)
c.3458T=
n.1378T=
c.4563T= (p.Asn1521=)
c.1438T=
n.474T=
c.3189T= (p.Asn1063=)
c.4656T= (p.Asn1552=)
c.4578T= (p.Asn1526=)
c.2670T= (p.Asn890=)
c.3693T= (p.Asn1231=)
c.3471T= (p.Asn1157=)
c.3456T= (p.Asn1152=)
n.4748T=
n.4733T=
n.4785T=
14g.45185343G>ACA389608345FANCMc.2854G>A (p.Asp952Asn)
c.420G>A
c.4435G>A (p.Asp1479Asn)
c.*3453G>A (n.*3453G>A)
n.378G>A
n.532G>A
c.4642G>A (p.Asp1548Asn)
c.*2667G>A (n.*2667G>A)
c.4486G>A (p.Asp1496Asn)
n.4590G>A
c.2640G>A
c.3573G>A
c.3474G>A
c.*398G>A (n.*398G>A)
c.3459G>A
n.1379G>A
c.4564G>A (p.Asp1522Asn)
c.1439G>A
n.475G>A
c.3190G>A (p.Asp1064Asn)
c.4657G>A (p.Asp1553Asn)
c.4579G>A (p.Asp1527Asn)
c.2671G>A (p.Asp891Asn)
c.3694G>A (p.Asp1232Asn)
c.3472G>A (p.Asp1158Asn)
c.3457G>A (p.Asp1153Asn)
n.4749G>A
n.4734G>A
n.4786G>A
14g.45185343G>CCA389608344FANCMc.2854G>C (p.Asp952His)
c.420G>C
c.4435G>C (p.Asp1479His)
c.*3453G>C (n.*3453G>C)
n.378G>C
n.532G>C
c.4642G>C (p.Asp1548His)
c.*2667G>C (n.*2667G>C)
c.4486G>C (p.Asp1496His)
n.4590G>C
c.2640G>C
c.3573G>C
c.3474G>C
c.*398G>C (n.*398G>C)
c.3459G>C
n.1379G>C
c.4564G>C (p.Asp1522His)
c.1439G>C
n.475G>C
c.3190G>C (p.Asp1064His)
c.4657G>C (p.Asp1553His)
c.4579G>C (p.Asp1527His)
c.2671G>C (p.Asp891His)
c.3694G>C (p.Asp1232His)
c.3472G>C (p.Asp1158His)
c.3457G>C (p.Asp1153His)
n.4749G>C
n.4734G>C
n.4786G>C
14g.45185343G>TCA389608343FANCMc.2854G>T (p.Asp952Tyr)
c.420G>T
c.4435G>T (p.Asp1479Tyr)
c.*3453G>T (n.*3453G>T)
n.378G>T
n.532G>T
c.4642G>T (p.Asp1548Tyr)
c.*2667G>T (n.*2667G>T)
c.4486G>T (p.Asp1496Tyr)
n.4590G>T
c.2640G>T
c.3573G>T
c.3474G>T
c.*398G>T (n.*398G>T)
c.3459G>T
n.1379G>T
c.4564G>T (p.Asp1522Tyr)
c.1439G>T
n.475G>T
c.3190G>T (p.Asp1064Tyr)
c.4657G>T (p.Asp1553Tyr)
c.4579G>T (p.Asp1527Tyr)
c.2671G>T (p.Asp891Tyr)
c.3694G>T (p.Asp1232Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3457G>T (p.Asp1153Tyr)
n.4749G>T
n.4734G>T
n.4786G>T
14g.45185344A=CA2133624582FANCMc.2855A= (p.Asp952=)
c.421A=
c.4436A= (p.Asp1479=)
c.*3454A= (n.*3454A=)
n.379A=
n.533A=
c.4643A= (p.Asp1548=)
c.*2668A= (n.*2668A=)
c.4487A= (p.Asp1496=)
n.4591A=
c.2641A=
c.3574A=
c.3475A=
c.*399A= (n.*399A=)
c.3460A=
n.1380A=
c.4565A= (p.Asp1522=)
c.1440A=
n.476A=
c.3191A= (p.Asp1064=)
c.4658A= (p.Asp1553=)
c.4580A= (p.Asp1527=)
c.2672A= (p.Asp891=)
c.3695A= (p.Asp1232=)
c.3473A= (p.Asp1158=)
c.3458A= (p.Asp1153=)
n.4750A=
n.4735A=
n.4787A=
14g.45185344A>CCA389608346FANCMc.2855A>C (p.Asp952Ala)
c.421A>C
c.4436A>C (p.Asp1479Ala)
c.*3454A>C (n.*3454A>C)
n.379A>C
n.533A>C
c.4643A>C (p.Asp1548Ala)
c.*2668A>C (n.*2668A>C)
c.4487A>C (p.Asp1496Ala)
n.4591A>C
c.2641A>C
c.3574A>C
c.3475A>C
c.*399A>C (n.*399A>C)
c.3460A>C
n.1380A>C
c.4565A>C (p.Asp1522Ala)
c.1440A>C
n.476A>C
c.3191A>C (p.Asp1064Ala)
c.4658A>C (p.Asp1553Ala)
c.4580A>C (p.Asp1527Ala)
c.2672A>C (p.Asp891Ala)
c.3695A>C (p.Asp1232Ala)
c.3473A>C (p.Asp1158Ala)
c.3458A>C (p.Asp1153Ala)
n.4750A>C
n.4735A>C
n.4787A>C
14g.45185344A>GCA389608347FANCMc.2855A>G (p.Asp952Gly)
c.421A>G
c.4436A>G (p.Asp1479Gly)
c.*3454A>G (n.*3454A>G)
n.379A>G
n.533A>G
c.4643A>G (p.Asp1548Gly)
c.*2668A>G (n.*2668A>G)
c.4487A>G (p.Asp1496Gly)
n.4591A>G
c.2641A>G
c.3574A>G
c.3475A>G
c.*399A>G (n.*399A>G)
c.3460A>G
n.1380A>G
c.4565A>G (p.Asp1522Gly)
c.1440A>G
n.476A>G
c.3191A>G (p.Asp1064Gly)
c.4658A>G (p.Asp1553Gly)
c.4580A>G (p.Asp1527Gly)
c.2672A>G (p.Asp891Gly)
c.3695A>G (p.Asp1232Gly)
c.3473A>G (p.Asp1158Gly)
c.3458A>G (p.Asp1153Gly)
n.4750A>G
n.4735A>G
n.4787A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.45185344A>TCA389608348FANCMc.2855A>T (p.Asp952Val)
c.421A>T
c.4436A>T (p.Asp1479Val)
c.*3454A>T (n.*3454A>T)
n.379A>T
n.533A>T
c.4643A>T (p.Asp1548Val)
c.*2668A>T (n.*2668A>T)
c.4487A>T (p.Asp1496Val)
n.4591A>T
c.2641A>T
c.3574A>T
c.3475A>T
c.*399A>T (n.*399A>T)
c.3460A>T
n.1380A>T
c.4565A>T (p.Asp1522Val)
c.1440A>T
n.476A>T
c.3191A>T (p.Asp1064Val)
c.4658A>T (p.Asp1553Val)
c.4580A>T (p.Asp1527Val)
c.2672A>T (p.Asp891Val)
c.3695A>T (p.Asp1232Val)
c.3473A>T (p.Asp1158Val)
c.3458A>T (p.Asp1153Val)
n.4750A>T
n.4735A>T
n.4787A>T
14g.45185345T>ACA389608349FANCMc.2856T>A (p.Asp952Glu)
c.422T>A
c.4437T>A (p.Asp1479Glu)
c.*3455T>A (n.*3455T>A)
n.380T>A
n.534T>A
c.4644T>A (p.Asp1548Glu)
c.*2669T>A (n.*2669T>A)
c.4488T>A (p.Asp1496Glu)
n.4592T>A
c.2642T>A
c.3575T>A
c.3476T>A
c.*400T>A (n.*400T>A)
c.3461T>A
n.1381T>A
c.4566T>A (p.Asp1522Glu)
c.1441T>A
n.477T>A
c.3192T>A (p.Asp1064Glu)
c.4659T>A (p.Asp1553Glu)
c.4581T>A (p.Asp1527Glu)
c.2673T>A (p.Asp891Glu)
c.3696T>A (p.Asp1232Glu)
c.3474T>A (p.Asp1158Glu)
c.3459T>A (p.Asp1153Glu)
n.4751T>A
n.4736T>A
n.4788T>A
14g.45185345T>CCA7169812FANCMc.2856T>C (p.Asp952=)
c.422T>C
c.4437T>C (p.Asp1479=)
c.*3455T>C (n.*3455T>C)
n.380T>C
n.534T>C
c.4644T>C (p.Asp1548=)
c.*2669T>C (n.*2669T>C)
c.4488T>C (p.Asp1496=)
n.4592T>C
c.2642T>C
c.3575T>C
c.3476T>C
c.*400T>C (n.*400T>C)
c.3461T>C
n.1381T>C
c.4566T>C (p.Asp1522=)
c.1441T>C
n.477T>C
c.3192T>C (p.Asp1064=)
c.4659T>C (p.Asp1553=)
c.4581T>C (p.Asp1527=)
c.2673T>C (p.Asp891=)
c.3696T>C (p.Asp1232=)
c.3474T>C (p.Asp1158=)
c.3459T>C (p.Asp1153=)
n.4751T>C
n.4736T>C
n.4788T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185345T>GCA389608350FANCMc.2856T>G (p.Asp952Glu)
c.422T>G
c.4437T>G (p.Asp1479Glu)
c.*3455T>G (n.*3455T>G)
n.380T>G
n.534T>G
c.4644T>G (p.Asp1548Glu)
c.*2669T>G (n.*2669T>G)
c.4488T>G (p.Asp1496Glu)
n.4592T>G
c.2642T>G
c.3575T>G
c.3476T>G
c.*400T>G (n.*400T>G)
c.3461T>G
n.1381T>G
c.4566T>G (p.Asp1522Glu)
c.1441T>G
n.477T>G
c.3192T>G (p.Asp1064Glu)
c.4659T>G (p.Asp1553Glu)
c.4581T>G (p.Asp1527Glu)
c.2673T>G (p.Asp891Glu)
c.3696T>G (p.Asp1232Glu)
c.3474T>G (p.Asp1158Glu)
c.3459T>G (p.Asp1153Glu)
n.4751T>G
n.4736T>G
n.4788T>G
14g.45185345T=CA2133624584FANCMc.2856T= (p.Asp952=)
c.422T=
c.4437T= (p.Asp1479=)
c.*3455T= (n.*3455T=)
n.380T=
n.534T=
c.4644T= (p.Asp1548=)
c.*2669T= (n.*2669T=)
c.4488T= (p.Asp1496=)
n.4592T=
c.2642T=
c.3575T=
c.3476T=
c.*400T= (n.*400T=)
c.3461T=
n.1381T=
c.4566T= (p.Asp1522=)
c.1441T=
n.477T=
c.3192T= (p.Asp1064=)
c.4659T= (p.Asp1553=)
c.4581T= (p.Asp1527=)
c.2673T= (p.Asp891=)
c.3696T= (p.Asp1232=)
c.3474T= (p.Asp1158=)
c.3459T= (p.Asp1153=)
n.4751T=
n.4736T=
n.4788T=
14g.45185346G>ACA389608353FANCMc.2857G>A (p.Glu953Lys)
c.423G>A
c.4438G>A (p.Glu1480Lys)
c.*3456G>A (n.*3456G>A)
n.381G>A
n.535G>A
c.4645G>A (p.Glu1549Lys)
c.*2670G>A (n.*2670G>A)
c.4489G>A (p.Glu1497Lys)
n.4593G>A
c.2643G>A
c.3576G>A
c.3477G>A
c.*401G>A (n.*401G>A)
c.3462G>A
n.1382G>A
c.4567G>A (p.Glu1523Lys)
c.1442G>A
n.478G>A
c.3193G>A (p.Glu1065Lys)
c.4660G>A (p.Glu1554Lys)
c.4582G>A (p.Glu1528Lys)
c.2674G>A (p.Glu892Lys)
c.3697G>A (p.Glu1233Lys)
c.3475G>A (p.Glu1159Lys)
c.3460G>A (p.Glu1154Lys)
n.4752G>A
n.4737G>A
n.4789G>A
 ClinVar
14g.45185346G>CCA389608351FANCMc.2857G>C (p.Glu953Gln)
c.423G>C
c.4438G>C (p.Glu1480Gln)
c.*3456G>C (n.*3456G>C)
n.381G>C
n.535G>C
c.4645G>C (p.Glu1549Gln)
c.*2670G>C (n.*2670G>C)
c.4489G>C (p.Glu1497Gln)
n.4593G>C
c.2643G>C
c.3576G>C
c.3477G>C
c.*401G>C (n.*401G>C)
c.3462G>C
n.1382G>C
c.4567G>C (p.Glu1523Gln)
c.1442G>C
n.478G>C
c.3193G>C (p.Glu1065Gln)
c.4660G>C (p.Glu1554Gln)
c.4582G>C (p.Glu1528Gln)
c.2674G>C (p.Glu892Gln)
c.3697G>C (p.Glu1233Gln)
c.3475G>C (p.Glu1159Gln)
c.3460G>C (p.Glu1154Gln)
n.4752G>C
n.4737G>C
n.4789G>C
14g.45185346G>TCA389608352FANCMc.2857G>T (p.Glu953Ter)
c.423G>T
c.4438G>T (p.Glu1480Ter)
c.*3456G>T (n.*3456G>T)
n.381G>T
n.535G>T
c.4645G>T (p.Glu1549Ter)
c.*2670G>T (n.*2670G>T)
c.4489G>T (p.Glu1497Ter)
n.4593G>T
c.2643G>T
c.3576G>T
c.3477G>T
c.*401G>T (n.*401G>T)
c.3462G>T
n.1382G>T
c.4567G>T (p.Glu1523Ter)
c.1442G>T
n.478G>T
c.3193G>T (p.Glu1065Ter)
c.4660G>T (p.Glu1554Ter)
c.4582G>T (p.Glu1528Ter)
c.2674G>T (p.Glu892Ter)
c.3697G>T (p.Glu1233Ter)
c.3475G>T (p.Glu1159Ter)
c.3460G>T (p.Glu1154Ter)
n.4752G>T
n.4737G>T
n.4789G>T
14g.45185347A>CCA389608355FANCMc.2858A>C (p.Glu953Ala)
c.424A>C
c.4439A>C (p.Glu1480Ala)
c.*3457A>C (n.*3457A>C)
n.382A>C
n.536A>C
c.4646A>C (p.Glu1549Ala)
c.*2671A>C (n.*2671A>C)
c.4490A>C (p.Glu1497Ala)
n.4594A>C
c.2644A>C
c.3577A>C
c.3478A>C
c.*402A>C (n.*402A>C)
c.3463A>C
n.1383A>C
c.4568A>C (p.Glu1523Ala)
c.1443A>C
n.479A>C
c.3194A>C (p.Glu1065Ala)
c.4661A>C (p.Glu1554Ala)
c.4583A>C (p.Glu1528Ala)
c.2675A>C (p.Glu892Ala)
c.3698A>C (p.Glu1233Ala)
c.3476A>C (p.Glu1159Ala)
c.3461A>C (p.Glu1154Ala)
n.4753A>C
n.4738A>C
n.4790A>C
14g.45185347A>GCA389608356FANCMc.2858A>G (p.Glu953Gly)
c.424A>G
c.4439A>G (p.Glu1480Gly)
c.*3457A>G (n.*3457A>G)
n.382A>G
n.536A>G
c.4646A>G (p.Glu1549Gly)
c.*2671A>G (n.*2671A>G)
c.4490A>G (p.Glu1497Gly)
n.4594A>G
c.2644A>G
c.3577A>G
c.3478A>G
c.*402A>G (n.*402A>G)
c.3463A>G
n.1383A>G
c.4568A>G (p.Glu1523Gly)
c.1443A>G
n.479A>G
c.3194A>G (p.Glu1065Gly)
c.4661A>G (p.Glu1554Gly)
c.4583A>G (p.Glu1528Gly)
c.2675A>G (p.Glu892Gly)
c.3698A>G (p.Glu1233Gly)
c.3476A>G (p.Glu1159Gly)
c.3461A>G (p.Glu1154Gly)
n.4753A>G
n.4738A>G
n.4790A>G
14g.45185347A>TCA389608358FANCMc.2858A>T (p.Glu953Val)
c.424A>T
c.4439A>T (p.Glu1480Val)
c.*3457A>T (n.*3457A>T)
n.382A>T
n.536A>T
c.4646A>T (p.Glu1549Val)
c.*2671A>T (n.*2671A>T)
c.4490A>T (p.Glu1497Val)
n.4594A>T
c.2644A>T
c.3577A>T
c.3478A>T
c.*402A>T (n.*402A>T)
c.3463A>T
n.1383A>T
c.4568A>T (p.Glu1523Val)
c.1443A>T
n.479A>T
c.3194A>T (p.Glu1065Val)
c.4661A>T (p.Glu1554Val)
c.4583A>T (p.Glu1528Val)
c.2675A>T (p.Glu892Val)
c.3698A>T (p.Glu1233Val)
c.3476A>T (p.Glu1159Val)
c.3461A>T (p.Glu1154Val)
n.4753A>T
n.4738A>T
n.4790A>T
14g.45185348A>CCA389608359FANCMc.2859A>C (p.Glu953Asp)
c.425A>C
c.4440A>C (p.Glu1480Asp)
c.*3458A>C (n.*3458A>C)
n.383A>C
n.537A>C
c.4647A>C (p.Glu1549Asp)
c.*2672A>C (n.*2672A>C)
c.4491A>C (p.Glu1497Asp)
n.4595A>C
c.2645A>C
c.3578A>C
c.3479A>C
c.*403A>C (n.*403A>C)
c.3464A>C
n.1384A>C
c.4569A>C (p.Glu1523Asp)
c.1444A>C
n.480A>C
c.3195A>C (p.Glu1065Asp)
c.4662A>C (p.Glu1554Asp)
c.4584A>C (p.Glu1528Asp)
c.2676A>C (p.Glu892Asp)
c.3699A>C (p.Glu1233Asp)
c.3477A>C (p.Glu1159Asp)
c.3462A>C (p.Glu1154Asp)
n.4754A>C
n.4739A>C
n.4791A>C
14g.45185348A>GCA486141420FANCMc.2859A>G (p.Glu953=)
c.425A>G
c.4440A>G (p.Glu1480=)
c.*3458A>G (n.*3458A>G)
n.383A>G
n.537A>G
c.4647A>G (p.Glu1549=)
c.*2672A>G (n.*2672A>G)
c.4491A>G (p.Glu1497=)
n.4595A>G
c.2645A>G
c.3578A>G
c.3479A>G
c.*403A>G (n.*403A>G)
c.3464A>G
n.1384A>G
c.4569A>G (p.Glu1523=)
c.1444A>G
n.480A>G
c.3195A>G (p.Glu1065=)
c.4662A>G (p.Glu1554=)
c.4584A>G (p.Glu1528=)
c.2676A>G (p.Glu892=)
c.3699A>G (p.Glu1233=)
c.3477A>G (p.Glu1159=)
c.3462A>G (p.Glu1154=)
n.4754A>G
n.4739A>G
n.4791A>G
 gnomAD v4
14g.45185348A>TCA389608361FANCMc.2859A>T (p.Glu953Asp)
c.425A>T
c.4440A>T (p.Glu1480Asp)
c.*3458A>T (n.*3458A>T)
n.383A>T
n.537A>T
c.4647A>T (p.Glu1549Asp)
c.*2672A>T (n.*2672A>T)
c.4491A>T (p.Glu1497Asp)
n.4595A>T
c.2645A>T
c.3578A>T
c.3479A>T
c.*403A>T (n.*403A>T)
c.3464A>T
n.1384A>T
c.4569A>T (p.Glu1523Asp)
c.1444A>T
n.480A>T
c.3195A>T (p.Glu1065Asp)
c.4662A>T (p.Glu1554Asp)
c.4584A>T (p.Glu1528Asp)
c.2676A>T (p.Glu892Asp)
c.3699A>T (p.Glu1233Asp)
c.3477A>T (p.Glu1159Asp)
c.3462A>T (p.Glu1154Asp)
n.4754A>T
n.4739A>T
n.4791A>T
14g.45185349A=CA2133624586FANCMc.2860A= (p.Thr954=)
c.426A=
c.4441A= (p.Thr1481=)
c.*3459A= (n.*3459A=)
n.384A=
n.538A=
c.4648A= (p.Thr1550=)
c.*2673A= (n.*2673A=)
c.4492A= (p.Thr1498=)
n.4596A=
c.2646A=
c.3579A=
c.3480A=
c.*404A= (n.*404A=)
c.3465A=
n.1385A=
c.4570A= (p.Thr1524=)
c.1445A=
n.481A=
c.3196A= (p.Thr1066=)
c.4663A= (p.Thr1555=)
c.4585A= (p.Thr1529=)
c.2677A= (p.Thr893=)
c.3700A= (p.Thr1234=)
c.3478A= (p.Thr1160=)
c.3463A= (p.Thr1155=)
n.4755A=
n.4740A=
n.4792A=
14g.45185349A>CCA389608364FANCMc.2860A>C (p.Thr954Pro)
c.426A>C
c.4441A>C (p.Thr1481Pro)
c.*3459A>C (n.*3459A>C)
n.384A>C
n.538A>C
c.4648A>C (p.Thr1550Pro)
c.*2673A>C (n.*2673A>C)
c.4492A>C (p.Thr1498Pro)
n.4596A>C
c.2646A>C
c.3579A>C
c.3480A>C
c.*404A>C (n.*404A>C)
c.3465A>C
n.1385A>C
c.4570A>C (p.Thr1524Pro)
c.1445A>C
n.481A>C
c.3196A>C (p.Thr1066Pro)
c.4663A>C (p.Thr1555Pro)
c.4585A>C (p.Thr1529Pro)
c.2677A>C (p.Thr893Pro)
c.3700A>C (p.Thr1234Pro)
c.3478A>C (p.Thr1160Pro)
c.3463A>C (p.Thr1155Pro)
n.4755A>C
n.4740A>C
n.4792A>C
14g.45185349A>GCA389608366FANCMc.2860A>G (p.Thr954Ala)
c.426A>G
c.4441A>G (p.Thr1481Ala)
c.*3459A>G (n.*3459A>G)
n.384A>G
n.538A>G
c.4648A>G (p.Thr1550Ala)
c.*2673A>G (n.*2673A>G)
c.4492A>G (p.Thr1498Ala)
n.4596A>G
c.2646A>G
c.3579A>G
c.3480A>G
c.*404A>G (n.*404A>G)
c.3465A>G
n.1385A>G
c.4570A>G (p.Thr1524Ala)
c.1445A>G
n.481A>G
c.3196A>G (p.Thr1066Ala)
c.4663A>G (p.Thr1555Ala)
c.4585A>G (p.Thr1529Ala)
c.2677A>G (p.Thr893Ala)
c.3700A>G (p.Thr1234Ala)
c.3478A>G (p.Thr1160Ala)
c.3463A>G (p.Thr1155Ala)
n.4755A>G
n.4740A>G
n.4792A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.45185349A>TCA389608365FANCMc.2860A>T (p.Thr954Ser)
c.426A>T
c.4441A>T (p.Thr1481Ser)
c.*3459A>T (n.*3459A>T)
n.384A>T
n.538A>T
c.4648A>T (p.Thr1550Ser)
c.*2673A>T (n.*2673A>T)
c.4492A>T (p.Thr1498Ser)
n.4596A>T
c.2646A>T
c.3579A>T
c.3480A>T
c.*404A>T (n.*404A>T)
c.3465A>T
n.1385A>T
c.4570A>T (p.Thr1524Ser)
c.1445A>T
n.481A>T
c.3196A>T (p.Thr1066Ser)
c.4663A>T (p.Thr1555Ser)
c.4585A>T (p.Thr1529Ser)
c.2677A>T (p.Thr893Ser)
c.3700A>T (p.Thr1234Ser)
c.3478A>T (p.Thr1160Ser)
c.3463A>T (p.Thr1155Ser)
n.4755A>T
n.4740A>T
n.4792A>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched