Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.45185237_45185238delinsAGCA2133624458FANCMc.2748_2749delinsAG (p.Leu916=)
c.314_315delinsAG
c.4329_4330delinsAG (p.Leu1443=)
c.*3347_*3348delinsAG (n.*3347_*3348delinsAG)
n.272_273delinsAG
n.426_427delinsAG
c.4536_4537delinsAG (p.Leu1512=)
c.*2561_*2562delinsAG (n.*2561_*2562delinsAG)
c.4380_4381delinsAG (p.Leu1460=)
n.4484_4485delinsAG
c.2534_2535delinsAG
c.3467_3468delinsAG
c.3368_3369delinsAG
c.*292_*293delinsAG (n.*292_*293delinsAG)
c.3353_3354delinsAG
n.1273_1274delinsAG
c.4458_4459delinsAG (p.Leu1486=)
c.1333_1334delinsAG
n.369_370delinsAG
c.3084_3085delinsAG (p.Leu1028=)
c.4551_4552delinsAG (p.Leu1517=)
c.4473_4474delinsAG (p.Leu1491=)
c.2565_2566delinsAG (p.Leu855=)
c.3588_3589delinsAG (p.Leu1196=)
c.3366_3367delinsAG (p.Leu1122=)
c.3351_3352delinsAG (p.Leu1117=)
n.4643_4644delinsAG
n.4628_4629delinsAG
n.4680_4681delinsAG
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.45185238delCA7169786FANCMc.2749del (p.Asp917MetfsTer?)
c.315del
c.4330del (p.Asp1444MetfsTer?)
c.*3348del (n.*3348del)
n.273del
n.427del
c.4537del (p.Asp1513MetfsTer?)
c.*2562del (n.*2562del)
c.4381del (p.Asp1461MetfsTer?)
n.4485del
c.2535del
c.3468del
c.3369del
c.*293del (n.*293del)
c.3354del
n.1274del
c.4459del (p.Asp1487MetfsTer?)
c.1334del
n.370del
c.3085del (p.Asp1029MetfsTer?)
c.4552del (p.Asp1518MetfsTer?)
c.4474del (p.Asp1492MetfsTer?)
c.2566del (p.Asp856MetfsTer?)
c.3589del (p.Asp1197MetfsTer?)
c.3367del (p.Asp1123MetfsTer?)
c.3352del (p.Asp1118MetfsTer?)
n.4644del
n.4629del
n.4681del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.45185238G>ACA389608084FANCMc.2749G>A (p.Asp917Asn)
c.315G>A
c.4330G>A (p.Asp1444Asn)
c.*3348G>A (n.*3348G>A)
n.273G>A
n.427G>A
c.4537G>A (p.Asp1513Asn)
c.*2562G>A (n.*2562G>A)
c.4381G>A (p.Asp1461Asn)
n.4485G>A
c.2535G>A
c.3468G>A
c.3369G>A
c.*293G>A (n.*293G>A)
c.3354G>A
n.1274G>A
c.4459G>A (p.Asp1487Asn)
c.1334G>A
n.370G>A
c.3085G>A (p.Asp1029Asn)
c.4552G>A (p.Asp1518Asn)
c.4474G>A (p.Asp1492Asn)
c.2566G>A (p.Asp856Asn)
c.3589G>A (p.Asp1197Asn)
c.3367G>A (p.Asp1123Asn)
c.3352G>A (p.Asp1118Asn)
n.4644G>A
n.4629G>A
n.4681G>A
14g.45185238G>CCA389608086FANCMc.2749G>C (p.Asp917His)
c.315G>C
c.4330G>C (p.Asp1444His)
c.*3348G>C (n.*3348G>C)
n.273G>C
n.427G>C
c.4537G>C (p.Asp1513His)
c.*2562G>C (n.*2562G>C)
c.4381G>C (p.Asp1461His)
n.4485G>C
c.2535G>C
c.3468G>C
c.3369G>C
c.*293G>C (n.*293G>C)
c.3354G>C
n.1274G>C
c.4459G>C (p.Asp1487His)
c.1334G>C
n.370G>C
c.3085G>C (p.Asp1029His)
c.4552G>C (p.Asp1518His)
c.4474G>C (p.Asp1492His)
c.2566G>C (p.Asp856His)
c.3589G>C (p.Asp1197His)
c.3367G>C (p.Asp1123His)
c.3352G>C (p.Asp1118His)
n.4644G>C
n.4629G>C
n.4681G>C
14g.45185238G>TCA389608088FANCMc.2749G>T (p.Asp917Tyr)
c.315G>T
c.4330G>T (p.Asp1444Tyr)
c.*3348G>T (n.*3348G>T)
n.273G>T
n.427G>T
c.4537G>T (p.Asp1513Tyr)
c.*2562G>T (n.*2562G>T)
c.4381G>T (p.Asp1461Tyr)
n.4485G>T
c.2535G>T
c.3468G>T
c.3369G>T
c.*293G>T (n.*293G>T)
c.3354G>T
n.1274G>T
c.4459G>T (p.Asp1487Tyr)
c.1334G>T
n.370G>T
c.3085G>T (p.Asp1029Tyr)
c.4552G>T (p.Asp1518Tyr)
c.4474G>T (p.Asp1492Tyr)
c.2566G>T (p.Asp856Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3367G>T (p.Asp1123Tyr)
c.3352G>T (p.Asp1118Tyr)
n.4644G>T
n.4629G>T
n.4681G>T
14g.45185239A>CCA389608095FANCMc.2750A>C (p.Asp917Ala)
c.316A>C
c.4331A>C (p.Asp1444Ala)
c.*3349A>C (n.*3349A>C)
n.274A>C
n.428A>C
c.4538A>C (p.Asp1513Ala)
c.*2563A>C (n.*2563A>C)
c.4382A>C (p.Asp1461Ala)
n.4486A>C
c.2536A>C
c.3469A>C
c.3370A>C
c.*294A>C (n.*294A>C)
c.3355A>C
n.1275A>C
c.4460A>C (p.Asp1487Ala)
c.1335A>C
n.371A>C
c.3086A>C (p.Asp1029Ala)
c.4553A>C (p.Asp1518Ala)
c.4475A>C (p.Asp1492Ala)
c.2567A>C (p.Asp856Ala)
c.3590A>C (p.Asp1197Ala)
c.3368A>C (p.Asp1123Ala)
c.3353A>C (p.Asp1118Ala)
n.4645A>C
n.4630A>C
n.4682A>C
14g.45185239A>GCA389608093FANCMc.2750A>G (p.Asp917Gly)
c.316A>G
c.4331A>G (p.Asp1444Gly)
c.*3349A>G (n.*3349A>G)
n.274A>G
n.428A>G
c.4538A>G (p.Asp1513Gly)
c.*2563A>G (n.*2563A>G)
c.4382A>G (p.Asp1461Gly)
n.4486A>G
c.2536A>G
c.3469A>G
c.3370A>G
c.*294A>G (n.*294A>G)
c.3355A>G
n.1275A>G
c.4460A>G (p.Asp1487Gly)
c.1335A>G
n.371A>G
c.3086A>G (p.Asp1029Gly)
c.4553A>G (p.Asp1518Gly)
c.4475A>G (p.Asp1492Gly)
c.2567A>G (p.Asp856Gly)
c.3590A>G (p.Asp1197Gly)
c.3368A>G (p.Asp1123Gly)
c.3353A>G (p.Asp1118Gly)
n.4645A>G
n.4630A>G
n.4682A>G
 ClinVar gnomAD v4
14g.45185239A>TCA389608091FANCMc.2750A>T (p.Asp917Val)
c.316A>T
c.4331A>T (p.Asp1444Val)
c.*3349A>T (n.*3349A>T)
n.274A>T
n.428A>T
c.4538A>T (p.Asp1513Val)
c.*2563A>T (n.*2563A>T)
c.4382A>T (p.Asp1461Val)
n.4486A>T
c.2536A>T
c.3469A>T
c.3370A>T
c.*294A>T (n.*294A>T)
c.3355A>T
n.1275A>T
c.4460A>T (p.Asp1487Val)
c.1335A>T
n.371A>T
c.3086A>T (p.Asp1029Val)
c.4553A>T (p.Asp1518Val)
c.4475A>T (p.Asp1492Val)
c.2567A>T (p.Asp856Val)
c.3590A>T (p.Asp1197Val)
c.3368A>T (p.Asp1123Val)
c.3353A>T (p.Asp1118Val)
n.4645A>T
n.4630A>T
n.4682A>T
14g.45185239_45185243delinsATGATCA2133624459FANCMc.2750_2754delinsATGAT (p.Asp917=)
c.316_320delinsATGAT
c.4331_4335delinsATGAT (p.Asp1444=)
c.*3349_*3353delinsATGAT (n.*3349_*3353delinsATGAT)
n.274_278delinsATGAT
n.428_432delinsATGAT
c.4538_4542delinsATGAT (p.Asp1513=)
c.*2563_*2567delinsATGAT (n.*2563_*2567delinsATGAT)
c.4382_4386delinsATGAT (p.Asp1461=)
n.4486_4490delinsATGAT
c.2536_2540delinsATGAT
c.3469_3473delinsATGAT
c.3370_3374delinsATGAT
c.*294_*298delinsATGAT (n.*294_*298delinsATGAT)
c.3355_3359delinsATGAT
n.1275_1279delinsATGAT
c.4460_4464delinsATGAT (p.Asp1487=)
c.1335_1339delinsATGAT
n.371_375delinsATGAT
c.3086_3090delinsATGAT (p.Asp1029=)
c.4553_4557delinsATGAT (p.Asp1518=)
c.4475_4479delinsATGAT (p.Asp1492=)
c.2567_2571delinsATGAT (p.Asp856=)
c.3590_3594delinsATGAT (p.Asp1197=)
c.3368_3372delinsATGAT (p.Asp1123=)
c.3353_3357delinsATGAT (p.Asp1118=)
n.4645_4649delinsATGAT
n.4630_4634delinsATGAT
n.4682_4686delinsATGAT
14g.45185240T>ACA389608097FANCMc.2751T>A (p.Asp917Glu)
c.317T>A
c.4332T>A (p.Asp1444Glu)
c.*3350T>A (n.*3350T>A)
n.275T>A
n.429T>A
c.4539T>A (p.Asp1513Glu)
c.*2564T>A (n.*2564T>A)
c.4383T>A (p.Asp1461Glu)
n.4487T>A
c.2537T>A
c.3470T>A
c.3371T>A
c.*295T>A (n.*295T>A)
c.3356T>A
n.1276T>A
c.4461T>A (p.Asp1487Glu)
c.1336T>A
n.372T>A
c.3087T>A (p.Asp1029Glu)
c.4554T>A (p.Asp1518Glu)
c.4476T>A (p.Asp1492Glu)
c.2568T>A (p.Asp856Glu)
c.3591T>A (p.Asp1197Glu)
c.3369T>A (p.Asp1123Glu)
c.3354T>A (p.Asp1118Glu)
n.4646T>A
n.4631T>A
n.4683T>A
14g.45185240T>CCA486141345FANCMc.2751T>C (p.Asp917=)
c.317T>C
c.4332T>C (p.Asp1444=)
c.*3350T>C (n.*3350T>C)
n.275T>C
n.429T>C
c.4539T>C (p.Asp1513=)
c.*2564T>C (n.*2564T>C)
c.4383T>C (p.Asp1461=)
n.4487T>C
c.2537T>C
c.3470T>C
c.3371T>C
c.*295T>C (n.*295T>C)
c.3356T>C
n.1276T>C
c.4461T>C (p.Asp1487=)
c.1336T>C
n.372T>C
c.3087T>C (p.Asp1029=)
c.4554T>C (p.Asp1518=)
c.4476T>C (p.Asp1492=)
c.2568T>C (p.Asp856=)
c.3591T>C (p.Asp1197=)
c.3369T>C (p.Asp1123=)
c.3354T>C (p.Asp1118=)
n.4646T>C
n.4631T>C
n.4683T>C
 gnomAD v4
14g.45185240T>GCA389608099FANCMc.2751T>G (p.Asp917Glu)
c.317T>G
c.4332T>G (p.Asp1444Glu)
c.*3350T>G (n.*3350T>G)
n.275T>G
n.429T>G
c.4539T>G (p.Asp1513Glu)
c.*2564T>G (n.*2564T>G)
c.4383T>G (p.Asp1461Glu)
n.4487T>G
c.2537T>G
c.3470T>G
c.3371T>G
c.*295T>G (n.*295T>G)
c.3356T>G
n.1276T>G
c.4461T>G (p.Asp1487Glu)
c.1336T>G
n.372T>G
c.3087T>G (p.Asp1029Glu)
c.4554T>G (p.Asp1518Glu)
c.4476T>G (p.Asp1492Glu)
c.2568T>G (p.Asp856Glu)
c.3591T>G (p.Asp1197Glu)
c.3369T>G (p.Asp1123Glu)
c.3354T>G (p.Asp1118Glu)
n.4646T>G
n.4631T>G
n.4683T>G
 gnomAD v4
14g.45185240_45185243delCA614273621FANCMc.2751_2754del (p.Asp917GlufsTer?)
c.317_320del
c.4332_4335del (p.Asp1444GlufsTer?)
c.*3350_*3353del (n.*3350_*3353del)
n.275_278del
n.429_432del
c.4539_4542del (p.Asp1513GlufsTer?)
c.*2564_*2567del (n.*2564_*2567del)
c.4383_4386del (p.Asp1461GlufsTer?)
n.4487_4490del
c.2537_2540del
c.3470_3473del
c.3371_3374del
c.*295_*298del (n.*295_*298del)
c.3356_3359del
n.1276_1279del
c.4461_4464del (p.Asp1487GlufsTer?)
c.1336_1339del
n.372_375del
c.3087_3090del (p.Asp1029GlufsTer?)
c.4554_4557del (p.Asp1518GlufsTer?)
c.4476_4479del (p.Asp1492GlufsTer?)
c.2568_2571del (p.Asp856GlufsTer?)
c.3591_3594del (p.Asp1197GlufsTer?)
c.3369_3372del (p.Asp1123GlufsTer?)
c.3354_3357del (p.Asp1118GlufsTer?)
n.4646_4649del
n.4631_4634del
n.4683_4686del
 dbSNP gnomAD v2
14g.45185241G>ACA389608102FANCMc.2752G>A (p.Asp918Asn)
c.318G>A
c.4333G>A (p.Asp1445Asn)
c.*3351G>A (n.*3351G>A)
n.276G>A
n.430G>A
c.4540G>A (p.Asp1514Asn)
c.*2565G>A (n.*2565G>A)
c.4384G>A (p.Asp1462Asn)
n.4488G>A
c.2538G>A
c.3471G>A
c.3372G>A
c.*296G>A (n.*296G>A)
c.3357G>A
n.1277G>A
c.4462G>A (p.Asp1488Asn)
c.1337G>A
n.373G>A
c.3088G>A (p.Asp1030Asn)
c.4555G>A (p.Asp1519Asn)
c.4477G>A (p.Asp1493Asn)
c.2569G>A (p.Asp857Asn)
c.3592G>A (p.Asp1198Asn)
c.3370G>A (p.Asp1124Asn)
c.3355G>A (p.Asp1119Asn)
n.4647G>A
n.4632G>A
n.4684G>A
 gnomAD v4
14g.45185241G>CCA389608103FANCMc.2752G>C (p.Asp918His)
c.318G>C
c.4333G>C (p.Asp1445His)
c.*3351G>C (n.*3351G>C)
n.276G>C
n.430G>C
c.4540G>C (p.Asp1514His)
c.*2565G>C (n.*2565G>C)
c.4384G>C (p.Asp1462His)
n.4488G>C
c.2538G>C
c.3471G>C
c.3372G>C
c.*296G>C (n.*296G>C)
c.3357G>C
n.1277G>C
c.4462G>C (p.Asp1488His)
c.1337G>C
n.373G>C
c.3088G>C (p.Asp1030His)
c.4555G>C (p.Asp1519His)
c.4477G>C (p.Asp1493His)
c.2569G>C (p.Asp857His)
c.3592G>C (p.Asp1198His)
c.3370G>C (p.Asp1124His)
c.3355G>C (p.Asp1119His)
n.4647G>C
n.4632G>C
n.4684G>C
14g.45185241G>TCA389608105FANCMc.2752G>T (p.Asp918Tyr)
c.318G>T
c.4333G>T (p.Asp1445Tyr)
c.*3351G>T (n.*3351G>T)
n.276G>T
n.430G>T
c.4540G>T (p.Asp1514Tyr)
c.*2565G>T (n.*2565G>T)
c.4384G>T (p.Asp1462Tyr)
n.4488G>T
c.2538G>T
c.3471G>T
c.3372G>T
c.*296G>T (n.*296G>T)
c.3357G>T
n.1277G>T
c.4462G>T (p.Asp1488Tyr)
c.1337G>T
n.373G>T
c.3088G>T (p.Asp1030Tyr)
c.4555G>T (p.Asp1519Tyr)
c.4477G>T (p.Asp1493Tyr)
c.2569G>T (p.Asp857Tyr)
c.3592G>T (p.Asp1198Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3355G>T (p.Asp1119Tyr)
n.4647G>T
n.4632G>T
n.4684G>T
 gnomAD v4
14g.45185242A>CCA389608111FANCMc.2753A>C (p.Asp918Ala)
c.319A>C
c.4334A>C (p.Asp1445Ala)
c.*3352A>C (n.*3352A>C)
n.277A>C
n.431A>C
c.4541A>C (p.Asp1514Ala)
c.*2566A>C (n.*2566A>C)
c.4385A>C (p.Asp1462Ala)
n.4489A>C
c.2539A>C
c.3472A>C
c.3373A>C
c.*297A>C (n.*297A>C)
c.3358A>C
n.1278A>C
c.4463A>C (p.Asp1488Ala)
c.1338A>C
n.374A>C
c.3089A>C (p.Asp1030Ala)
c.4556A>C (p.Asp1519Ala)
c.4478A>C (p.Asp1493Ala)
c.2570A>C (p.Asp857Ala)
c.3593A>C (p.Asp1198Ala)
c.3371A>C (p.Asp1124Ala)
c.3356A>C (p.Asp1119Ala)
n.4648A>C
n.4633A>C
n.4685A>C
14g.45185242A>GCA389608109FANCMc.2753A>G (p.Asp918Gly)
c.319A>G
c.4334A>G (p.Asp1445Gly)
c.*3352A>G (n.*3352A>G)
n.277A>G
n.431A>G
c.4541A>G (p.Asp1514Gly)
c.*2566A>G (n.*2566A>G)
c.4385A>G (p.Asp1462Gly)
n.4489A>G
c.2539A>G
c.3472A>G
c.3373A>G
c.*297A>G (n.*297A>G)
c.3358A>G
n.1278A>G
c.4463A>G (p.Asp1488Gly)
c.1338A>G
n.374A>G
c.3089A>G (p.Asp1030Gly)
c.4556A>G (p.Asp1519Gly)
c.4478A>G (p.Asp1493Gly)
c.2570A>G (p.Asp857Gly)
c.3593A>G (p.Asp1198Gly)
c.3371A>G (p.Asp1124Gly)
c.3356A>G (p.Asp1119Gly)
n.4648A>G
n.4633A>G
n.4685A>G
14g.45185242A>TCA389608107FANCMc.2753A>T (p.Asp918Val)
c.319A>T
c.4334A>T (p.Asp1445Val)
c.*3352A>T (n.*3352A>T)
n.277A>T
n.431A>T
c.4541A>T (p.Asp1514Val)
c.*2566A>T (n.*2566A>T)
c.4385A>T (p.Asp1462Val)
n.4489A>T
c.2539A>T
c.3472A>T
c.3373A>T
c.*297A>T (n.*297A>T)
c.3358A>T
n.1278A>T
c.4463A>T (p.Asp1488Val)
c.1338A>T
n.374A>T
c.3089A>T (p.Asp1030Val)
c.4556A>T (p.Asp1519Val)
c.4478A>T (p.Asp1493Val)
c.2570A>T (p.Asp857Val)
c.3593A>T (p.Asp1198Val)
c.3371A>T (p.Asp1124Val)
c.3356A>T (p.Asp1119Val)
n.4648A>T
n.4633A>T
n.4685A>T
14g.45185243T>ACA389608113FANCMc.2754T>A (p.Asp918Glu)
c.320T>A
c.4335T>A (p.Asp1445Glu)
c.*3353T>A (n.*3353T>A)
n.278T>A
n.432T>A
c.4542T>A (p.Asp1514Glu)
c.*2567T>A (n.*2567T>A)
c.4386T>A (p.Asp1462Glu)
n.4490T>A
c.2540T>A
c.3473T>A
c.3374T>A
c.*298T>A (n.*298T>A)
c.3359T>A
n.1279T>A
c.4464T>A (p.Asp1488Glu)
c.1339T>A
n.375T>A
c.3090T>A (p.Asp1030Glu)
c.4557T>A (p.Asp1519Glu)
c.4479T>A (p.Asp1493Glu)
c.2571T>A (p.Asp857Glu)
c.3594T>A (p.Asp1198Glu)
c.3372T>A (p.Asp1124Glu)
c.3357T>A (p.Asp1119Glu)
n.4649T>A
n.4634T>A
n.4686T>A
14g.45185243T>CCA7169787FANCMc.2754T>C (p.Asp918=)
c.320T>C
c.4335T>C (p.Asp1445=)
c.*3353T>C (n.*3353T>C)
n.278T>C
n.432T>C
c.4542T>C (p.Asp1514=)
c.*2567T>C (n.*2567T>C)
c.4386T>C (p.Asp1462=)
n.4490T>C
c.2540T>C
c.3473T>C
c.3374T>C
c.*298T>C (n.*298T>C)
c.3359T>C
n.1279T>C
c.4464T>C (p.Asp1488=)
c.1339T>C
n.375T>C
c.3090T>C (p.Asp1030=)
c.4557T>C (p.Asp1519=)
c.4479T>C (p.Asp1493=)
c.2571T>C (p.Asp857=)
c.3594T>C (p.Asp1198=)
c.3372T>C (p.Asp1124=)
c.3357T>C (p.Asp1119=)
n.4649T>C
n.4634T>C
n.4686T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185243T>GCA389608116FANCMc.2754T>G (p.Asp918Glu)
c.320T>G
c.4335T>G (p.Asp1445Glu)
c.*3353T>G (n.*3353T>G)
n.278T>G
n.432T>G
c.4542T>G (p.Asp1514Glu)
c.*2567T>G (n.*2567T>G)
c.4386T>G (p.Asp1462Glu)
n.4490T>G
c.2540T>G
c.3473T>G
c.3374T>G
c.*298T>G (n.*298T>G)
c.3359T>G
n.1279T>G
c.4464T>G (p.Asp1488Glu)
c.1339T>G
n.375T>G
c.3090T>G (p.Asp1030Glu)
c.4557T>G (p.Asp1519Glu)
c.4479T>G (p.Asp1493Glu)
c.2571T>G (p.Asp857Glu)
c.3594T>G (p.Asp1198Glu)
c.3372T>G (p.Asp1124Glu)
c.3357T>G (p.Asp1119Glu)
n.4649T>G
n.4634T>G
n.4686T>G
14g.45185243T=CA2133624462FANCMc.2754T= (p.Asp918=)
c.320T=
c.4335T= (p.Asp1445=)
c.*3353T= (n.*3353T=)
n.278T=
n.432T=
c.4542T= (p.Asp1514=)
c.*2567T= (n.*2567T=)
c.4386T= (p.Asp1462=)
n.4490T=
c.2540T=
c.3473T=
c.3374T=
c.*298T= (n.*298T=)
c.3359T=
n.1279T=
c.4464T= (p.Asp1488=)
c.1339T=
n.375T=
c.3090T= (p.Asp1030=)
c.4557T= (p.Asp1519=)
c.4479T= (p.Asp1493=)
c.2571T= (p.Asp857=)
c.3594T= (p.Asp1198=)
c.3372T= (p.Asp1124=)
c.3357T= (p.Asp1119=)
n.4649T=
n.4634T=
n.4686T=
14g.45185244G>ACA389608118FANCMc.2755G>A (p.Glu919Lys)
c.321G>A
c.4336G>A (p.Glu1446Lys)
c.*3354G>A (n.*3354G>A)
n.279G>A
n.433G>A
c.4543G>A (p.Glu1515Lys)
c.*2568G>A (n.*2568G>A)
c.4387G>A (p.Glu1463Lys)
n.4491G>A
c.2541G>A
c.3474G>A
c.3375G>A
c.*299G>A (n.*299G>A)
c.3360G>A
n.1280G>A
c.4465G>A (p.Glu1489Lys)
c.1340G>A
n.376G>A
c.3091G>A (p.Glu1031Lys)
c.4558G>A (p.Glu1520Lys)
c.4480G>A (p.Glu1494Lys)
c.2572G>A (p.Glu858Lys)
c.3595G>A (p.Glu1199Lys)
c.3373G>A (p.Glu1125Lys)
c.3358G>A (p.Glu1120Lys)
n.4650G>A
n.4635G>A
n.4687G>A
14g.45185244G>CCA389608120FANCMc.2755G>C (p.Glu919Gln)
c.321G>C
c.4336G>C (p.Glu1446Gln)
c.*3354G>C (n.*3354G>C)
n.279G>C
n.433G>C
c.4543G>C (p.Glu1515Gln)
c.*2568G>C (n.*2568G>C)
c.4387G>C (p.Glu1463Gln)
n.4491G>C
c.2541G>C
c.3474G>C
c.3375G>C
c.*299G>C (n.*299G>C)
c.3360G>C
n.1280G>C
c.4465G>C (p.Glu1489Gln)
c.1340G>C
n.376G>C
c.3091G>C (p.Glu1031Gln)
c.4558G>C (p.Glu1520Gln)
c.4480G>C (p.Glu1494Gln)
c.2572G>C (p.Glu858Gln)
c.3595G>C (p.Glu1199Gln)
c.3373G>C (p.Glu1125Gln)
c.3358G>C (p.Glu1120Gln)
n.4650G>C
n.4635G>C
n.4687G>C
14g.45185244G>TCA389608122FANCMc.2755G>T (p.Glu919Ter)
c.321G>T
c.4336G>T (p.Glu1446Ter)
c.*3354G>T (n.*3354G>T)
n.279G>T
n.433G>T
c.4543G>T (p.Glu1515Ter)
c.*2568G>T (n.*2568G>T)
c.4387G>T (p.Glu1463Ter)
n.4491G>T
c.2541G>T
c.3474G>T
c.3375G>T
c.*299G>T (n.*299G>T)
c.3360G>T
n.1280G>T
c.4465G>T (p.Glu1489Ter)
c.1340G>T
n.376G>T
c.3091G>T (p.Glu1031Ter)
c.4558G>T (p.Glu1520Ter)
c.4480G>T (p.Glu1494Ter)
c.2572G>T (p.Glu858Ter)
c.3595G>T (p.Glu1199Ter)
c.3373G>T (p.Glu1125Ter)
c.3358G>T (p.Glu1120Ter)
n.4650G>T
n.4635G>T
n.4687G>T
14g.45185245A=CA2133624464FANCMc.2756A= (p.Glu919=)
c.322A=
c.4337A= (p.Glu1446=)
c.*3355A= (n.*3355A=)
n.280A=
n.434A=
c.4544A= (p.Glu1515=)
c.*2569A= (n.*2569A=)
c.4388A= (p.Glu1463=)
n.4492A=
c.2542A=
c.3475A=
c.3376A=
c.*300A= (n.*300A=)
c.3361A=
n.1281A=
c.4466A= (p.Glu1489=)
c.1341A=
n.377A=
c.3092A= (p.Glu1031=)
c.4559A= (p.Glu1520=)
c.4481A= (p.Glu1494=)
c.2573A= (p.Glu858=)
c.3596A= (p.Glu1199=)
c.3374A= (p.Glu1125=)
c.3359A= (p.Glu1120=)
n.4651A=
n.4636A=
n.4688A=
14g.45185245A>CCA389608124FANCMc.2756A>C (p.Glu919Ala)
c.322A>C
c.4337A>C (p.Glu1446Ala)
c.*3355A>C (n.*3355A>C)
n.280A>C
n.434A>C
c.4544A>C (p.Glu1515Ala)
c.*2569A>C (n.*2569A>C)
c.4388A>C (p.Glu1463Ala)
n.4492A>C
c.2542A>C
c.3475A>C
c.3376A>C
c.*300A>C (n.*300A>C)
c.3361A>C
n.1281A>C
c.4466A>C (p.Glu1489Ala)
c.1341A>C
n.377A>C
c.3092A>C (p.Glu1031Ala)
c.4559A>C (p.Glu1520Ala)
c.4481A>C (p.Glu1494Ala)
c.2573A>C (p.Glu858Ala)
c.3596A>C (p.Glu1199Ala)
c.3374A>C (p.Glu1125Ala)
c.3359A>C (p.Glu1120Ala)
n.4651A>C
n.4636A>C
n.4688A>C
14g.45185245A>GCA389608126FANCMc.2756A>G (p.Glu919Gly)
c.322A>G
c.4337A>G (p.Glu1446Gly)
c.*3355A>G (n.*3355A>G)
n.280A>G
n.434A>G
c.4544A>G (p.Glu1515Gly)
c.*2569A>G (n.*2569A>G)
c.4388A>G (p.Glu1463Gly)
n.4492A>G
c.2542A>G
c.3475A>G
c.3376A>G
c.*300A>G (n.*300A>G)
c.3361A>G
n.1281A>G
c.4466A>G (p.Glu1489Gly)
c.1341A>G
n.377A>G
c.3092A>G (p.Glu1031Gly)
c.4559A>G (p.Glu1520Gly)
c.4481A>G (p.Glu1494Gly)
c.2573A>G (p.Glu858Gly)
c.3596A>G (p.Glu1199Gly)
c.3374A>G (p.Glu1125Gly)
c.3359A>G (p.Glu1120Gly)
n.4651A>G
n.4636A>G
n.4688A>G
14g.45185245A>TCA7169788FANCMc.2756A>T (p.Glu919Val)
c.322A>T
c.4337A>T (p.Glu1446Val)
c.*3355A>T (n.*3355A>T)
n.280A>T
n.434A>T
c.4544A>T (p.Glu1515Val)
c.*2569A>T (n.*2569A>T)
c.4388A>T (p.Glu1463Val)
n.4492A>T
c.2542A>T
c.3475A>T
c.3376A>T
c.*300A>T (n.*300A>T)
c.3361A>T
n.1281A>T
c.4466A>T (p.Glu1489Val)
c.1341A>T
n.377A>T
c.3092A>T (p.Glu1031Val)
c.4559A>T (p.Glu1520Val)
c.4481A>T (p.Glu1494Val)
c.2573A>T (p.Glu858Val)
c.3596A>T (p.Glu1199Val)
c.3374A>T (p.Glu1125Val)
c.3359A>T (p.Glu1120Val)
n.4651A>T
n.4636A>T
n.4688A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.45185245_45185248delinsAAGCCA2133624465FANCMc.2756_2759delinsAAGC (p.Glu919=)
c.322_325delinsAAGC
c.4337_4340delinsAAGC (p.Glu1446=)
c.*3355_*3358delinsAAGC (n.*3355_*3358delinsAAGC)
n.280_283delinsAAGC
n.434_437delinsAAGC
c.4544_4547delinsAAGC (p.Glu1515=)
c.*2569_*2572delinsAAGC (n.*2569_*2572delinsAAGC)
c.4388_4391delinsAAGC (p.Glu1463=)
n.4492_4495delinsAAGC
c.2542_2545delinsAAGC
c.3475_3478delinsAAGC
c.3376_3379delinsAAGC
c.*300_*303delinsAAGC (n.*300_*303delinsAAGC)
c.3361_3364delinsAAGC
n.1281_1284delinsAAGC
c.4466_4469delinsAAGC (p.Glu1489=)
c.1341_1344delinsAAGC
n.377_380delinsAAGC
c.3092_3095delinsAAGC (p.Glu1031=)
c.4559_4562delinsAAGC (p.Glu1520=)
c.4481_4484delinsAAGC (p.Glu1494=)
c.2573_2576delinsAAGC (p.Glu858=)
c.3596_3599delinsAAGC (p.Glu1199=)
c.3374_3377delinsAAGC (p.Glu1125=)
c.3359_3362delinsAAGC (p.Glu1120=)
n.4651_4654delinsAAGC
n.4636_4639delinsAAGC
n.4688_4691delinsAAGC
14g.45185246A=CA2133624468FANCMc.2757A= (p.Glu919=)
c.323A=
c.4338A= (p.Glu1446=)
c.*3356A= (n.*3356A=)
n.281A=
n.435A=
c.4545A= (p.Glu1515=)
c.*2570A= (n.*2570A=)
c.4389A= (p.Glu1463=)
n.4493A=
c.2543A=
c.3476A=
c.3377A=
c.*301A= (n.*301A=)
c.3362A=
n.1282A=
c.4467A= (p.Glu1489=)
c.1342A=
n.378A=
c.3093A= (p.Glu1031=)
c.4560A= (p.Glu1520=)
c.4482A= (p.Glu1494=)
c.2574A= (p.Glu858=)
c.3597A= (p.Glu1199=)
c.3375A= (p.Glu1125=)
c.3360A= (p.Glu1120=)
n.4652A=
n.4637A=
n.4689A=
14g.45185246A>CCA389608128FANCMc.2757A>C (p.Glu919Asp)
c.323A>C
c.4338A>C (p.Glu1446Asp)
c.*3356A>C (n.*3356A>C)
n.281A>C
n.435A>C
c.4545A>C (p.Glu1515Asp)
c.*2570A>C (n.*2570A>C)
c.4389A>C (p.Glu1463Asp)
n.4493A>C
c.2543A>C
c.3476A>C
c.3377A>C
c.*301A>C (n.*301A>C)
c.3362A>C
n.1282A>C
c.4467A>C (p.Glu1489Asp)
c.1342A>C
n.378A>C
c.3093A>C (p.Glu1031Asp)
c.4560A>C (p.Glu1520Asp)
c.4482A>C (p.Glu1494Asp)
c.2574A>C (p.Glu858Asp)
c.3597A>C (p.Glu1199Asp)
c.3375A>C (p.Glu1125Asp)
c.3360A>C (p.Glu1120Asp)
n.4652A>C
n.4637A>C
n.4689A>C
14g.45185246A>GCA486141346FANCMc.2757A>G (p.Glu919=)
c.323A>G
c.4338A>G (p.Glu1446=)
c.*3356A>G (n.*3356A>G)
n.281A>G
n.435A>G
c.4545A>G (p.Glu1515=)
c.*2570A>G (n.*2570A>G)
c.4389A>G (p.Glu1463=)
n.4493A>G
c.2543A>G
c.3476A>G
c.3377A>G
c.*301A>G (n.*301A>G)
c.3362A>G
n.1282A>G
c.4467A>G (p.Glu1489=)
c.1342A>G
n.378A>G
c.3093A>G (p.Glu1031=)
c.4560A>G (p.Glu1520=)
c.4482A>G (p.Glu1494=)
c.2574A>G (p.Glu858=)
c.3597A>G (p.Glu1199=)
c.3375A>G (p.Glu1125=)
c.3360A>G (p.Glu1120=)
n.4652A>G
n.4637A>G
n.4689A>G
14g.45185246A>TCA389608130FANCMc.2757A>T (p.Glu919Asp)
c.323A>T
c.4338A>T (p.Glu1446Asp)
c.*3356A>T (n.*3356A>T)
n.281A>T
n.435A>T
c.4545A>T (p.Glu1515Asp)
c.*2570A>T (n.*2570A>T)
c.4389A>T (p.Glu1463Asp)
n.4493A>T
c.2543A>T
c.3476A>T
c.3377A>T
c.*301A>T (n.*301A>T)
c.3362A>T
n.1282A>T
c.4467A>T (p.Glu1489Asp)
c.1342A>T
n.378A>T
c.3093A>T (p.Glu1031Asp)
c.4560A>T (p.Glu1520Asp)
c.4482A>T (p.Glu1494Asp)
c.2574A>T (p.Glu858Asp)
c.3597A>T (p.Glu1199Asp)
c.3375A>T (p.Glu1125Asp)
c.3360A>T (p.Glu1120Asp)
n.4652A>T
n.4637A>T
n.4689A>T
 ClinVar dbSNP
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.45185247G>ACA389608132FANCMc.2758G>A (p.Ala920Thr)
c.324G>A
c.4339G>A (p.Ala1447Thr)
c.*3357G>A (n.*3357G>A)
n.282G>A
n.436G>A
c.4546G>A (p.Ala1516Thr)
c.*2571G>A (n.*2571G>A)
c.4390G>A (p.Ala1464Thr)
n.4494G>A
c.2544G>A
c.3477G>A
c.3378G>A
c.*302G>A (n.*302G>A)
c.3363G>A
n.1283G>A
c.4468G>A (p.Ala1490Thr)
c.1343G>A
n.379G>A
c.3094G>A (p.Ala1032Thr)
c.4561G>A (p.Ala1521Thr)
c.4483G>A (p.Ala1495Thr)
c.2575G>A (p.Ala859Thr)
c.3598G>A (p.Ala1200Thr)
c.3376G>A (p.Ala1126Thr)
c.3361G>A (p.Ala1121Thr)
n.4653G>A
n.4638G>A
n.4690G>A
 dbSNP gnomAD v3 gnomAD v4
14g.45185247G>CCA389608134FANCMc.2758G>C (p.Ala920Pro)
c.324G>C
c.4339G>C (p.Ala1447Pro)
c.*3357G>C (n.*3357G>C)
n.282G>C
n.436G>C
c.4546G>C (p.Ala1516Pro)
c.*2571G>C (n.*2571G>C)
c.4390G>C (p.Ala1464Pro)
n.4494G>C
c.2544G>C
c.3477G>C
c.3378G>C
c.*302G>C (n.*302G>C)
c.3363G>C
n.1283G>C
c.4468G>C (p.Ala1490Pro)
c.1343G>C
n.379G>C
c.3094G>C (p.Ala1032Pro)
c.4561G>C (p.Ala1521Pro)
c.4483G>C (p.Ala1495Pro)
c.2575G>C (p.Ala859Pro)
c.3598G>C (p.Ala1200Pro)
c.3376G>C (p.Ala1126Pro)
c.3361G>C (p.Ala1121Pro)
n.4653G>C
n.4638G>C
n.4690G>C
14g.45185247G=CA2133624469FANCMc.2758G= (p.Ala920=)
c.324G=
c.4339G= (p.Ala1447=)
c.*3357G= (n.*3357G=)
n.282G=
n.436G=
c.4546G= (p.Ala1516=)
c.*2571G= (n.*2571G=)
c.4390G= (p.Ala1464=)
n.4494G=
c.2544G=
c.3477G=
c.3378G=
c.*302G= (n.*302G=)
c.3363G=
n.1283G=
c.4468G= (p.Ala1490=)
c.1343G=
n.379G=
c.3094G= (p.Ala1032=)
c.4561G= (p.Ala1521=)
c.4483G= (p.Ala1495=)
c.2575G= (p.Ala859=)
c.3598G= (p.Ala1200=)
c.3376G= (p.Ala1126=)
c.3361G= (p.Ala1121=)
n.4653G=
n.4638G=
n.4690G=
14g.45185247G>TCA389608135FANCMc.2758G>T (p.Ala920Ser)
c.324G>T
c.4339G>T (p.Ala1447Ser)
c.*3357G>T (n.*3357G>T)
n.282G>T
n.436G>T
c.4546G>T (p.Ala1516Ser)
c.*2571G>T (n.*2571G>T)
c.4390G>T (p.Ala1464Ser)
n.4494G>T
c.2544G>T
c.3477G>T
c.3378G>T
c.*302G>T (n.*302G>T)
c.3363G>T
n.1283G>T
c.4468G>T (p.Ala1490Ser)
c.1343G>T
n.379G>T
c.3094G>T (p.Ala1032Ser)
c.4561G>T (p.Ala1521Ser)
c.4483G>T (p.Ala1495Ser)
c.2575G>T (p.Ala859Ser)
c.3598G>T (p.Ala1200Ser)
c.3376G>T (p.Ala1126Ser)
c.3361G>T (p.Ala1121Ser)
n.4653G>T
n.4638G>T
n.4690G>T
14g.45185247_45185248insAGAACA2739291845FANCMc.2758_2759insAGAA (p.Ala920GlufsTer6)
c.324_325insAGAA
c.4339_4340insAGAA (p.Ala1447GlufsTer6)
c.*3357_*3358insAGAA (n.*3357_*3358insAGAA)
n.282_283insAGAA
n.436_437insAGAA
c.4546_4547insAGAA (p.Ala1516GlufsTer6)
c.*2571_*2572insAGAA (n.*2571_*2572insAGAA)
c.4390_4391insAGAA (p.Ala1464GlufsTer6)
n.4494_4495insAGAA
c.2544_2545insAGAA
c.3477_3478insAGAA
c.3378_3379insAGAA
c.*302_*303insAGAA (n.*302_*303insAGAA)
c.3363_3364insAGAA
n.1283_1284insAGAA
c.4468_4469insAGAA (p.Ala1490GlufsTer6)
c.1343_1344insAGAA
n.379_380insAGAA
c.3094_3095insAGAA (p.Ala1032GlufsTer6)
c.4561_4562insAGAA (p.Ala1521GlufsTer6)
c.4483_4484insAGAA (p.Ala1495GlufsTer6)
c.2575_2576insAGAA (p.Ala859GlufsTer6)
c.3598_3599insAGAA (p.Ala1200GlufsTer6)
c.3376_3377insAGAA (p.Ala1126GlufsTer6)
c.3361_3362insAGAA (p.Ala1121GlufsTer6)
n.4653_4654insAGAA
n.4638_4639insAGAA
n.4690_4691insAGAA
14g.45185248C>ACA389608136FANCMc.2759C>A (p.Ala920Glu)
c.325C>A
c.4340C>A (p.Ala1447Glu)
c.*3358C>A (n.*3358C>A)
n.283C>A
n.437C>A
c.4547C>A (p.Ala1516Glu)
c.*2572C>A (n.*2572C>A)
c.4391C>A (p.Ala1464Glu)
n.4495C>A
c.2545C>A
c.3478C>A
c.3379C>A
c.*303C>A (n.*303C>A)
c.3364C>A
n.1284C>A
c.4469C>A (p.Ala1490Glu)
c.1344C>A
n.380C>A
c.3095C>A (p.Ala1032Glu)
c.4562C>A (p.Ala1521Glu)
c.4484C>A (p.Ala1495Glu)
c.2576C>A (p.Ala859Glu)
c.3599C>A (p.Ala1200Glu)
c.3377C>A (p.Ala1126Glu)
c.3362C>A (p.Ala1121Glu)
n.4654C>A
n.4639C>A
n.4691C>A
 gnomAD v4
14g.45185248C=CA2133624471FANCMc.2759C= (p.Ala920=)
c.325C=
c.4340C= (p.Ala1447=)
c.*3358C= (n.*3358C=)
n.283C=
n.437C=
c.4547C= (p.Ala1516=)
c.*2572C= (n.*2572C=)
c.4391C= (p.Ala1464=)
n.4495C=
c.2545C=
c.3478C=
c.3379C=
c.*303C= (n.*303C=)
c.3364C=
n.1284C=
c.4469C= (p.Ala1490=)
c.1344C=
n.380C=
c.3095C= (p.Ala1032=)
c.4562C= (p.Ala1521=)
c.4484C= (p.Ala1495=)
c.2576C= (p.Ala859=)
c.3599C= (p.Ala1200=)
c.3377C= (p.Ala1126=)
c.3362C= (p.Ala1121=)
n.4654C=
n.4639C=
n.4691C=
14g.45185248C>GCA389608137FANCMc.2759C>G (p.Ala920Gly)
c.325C>G
c.4340C>G (p.Ala1447Gly)
c.*3358C>G (n.*3358C>G)
n.283C>G
n.437C>G
c.4547C>G (p.Ala1516Gly)
c.*2572C>G (n.*2572C>G)
c.4391C>G (p.Ala1464Gly)
n.4495C>G
c.2545C>G
c.3478C>G
c.3379C>G
c.*303C>G (n.*303C>G)
c.3364C>G
n.1284C>G
c.4469C>G (p.Ala1490Gly)
c.1344C>G
n.380C>G
c.3095C>G (p.Ala1032Gly)
c.4562C>G (p.Ala1521Gly)
c.4484C>G (p.Ala1495Gly)
c.2576C>G (p.Ala859Gly)
c.3599C>G (p.Ala1200Gly)
c.3377C>G (p.Ala1126Gly)
c.3362C>G (p.Ala1121Gly)
n.4654C>G
n.4639C>G
n.4691C>G
14g.45185248C>TCA389608138FANCMc.2759C>T (p.Ala920Val)
c.325C>T
c.4340C>T (p.Ala1447Val)
c.*3358C>T (n.*3358C>T)
n.283C>T
n.437C>T
c.4547C>T (p.Ala1516Val)
c.*2572C>T (n.*2572C>T)
c.4391C>T (p.Ala1464Val)
n.4495C>T
c.2545C>T
c.3478C>T
c.3379C>T
c.*303C>T (n.*303C>T)
c.3364C>T
n.1284C>T
c.4469C>T (p.Ala1490Val)
c.1344C>T
n.380C>T
c.3095C>T (p.Ala1032Val)
c.4562C>T (p.Ala1521Val)
c.4484C>T (p.Ala1495Val)
c.2576C>T (p.Ala859Val)
c.3599C>T (p.Ala1200Val)
c.3377C>T (p.Ala1126Val)
c.3362C>T (p.Ala1121Val)
n.4654C>T
n.4639C>T
n.4691C>T
 dbSNP gnomAD v2 gnomAD v4
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

Number of alleles fetched