ClinVar Miner

List of variants reported as likely pathogenic for congenital limb malformation by Baylor Genetics

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 805
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120 0.00016
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_020812.4(DOCK6):c.1987C>T (p.Gln663Ter) rs936266747 0.00004
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.12330+2T>C rs1374971806 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1470+2dup rs1477702016 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.5344-1G>C rs1197561990 0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter) rs1032240985 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.1036-1G>A
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)
NM_001164508.2(NEB):c.10560+1G>C
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)
NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs) rs1560500587
NM_001164508.2(NEB):c.11118del (p.His3707fs)
NM_001164508.2(NEB):c.11393del (p.Ile3798fs)
NM_001164508.2(NEB):c.1153-1_1153del
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)
NM_001164508.2(NEB):c.11911-2A>G
NM_001164508.2(NEB):c.12055_12058dup (p.His4020fs)
NM_001164508.2(NEB):c.12065del (p.Gly4022fs)
NM_001164508.2(NEB):c.12182del (p.Pro4061fs) rs2097886912
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)
NM_001164508.2(NEB):c.1264del (p.Tyr422fs)
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)
NM_001164508.2(NEB):c.13076_13085del (p.Asp4359fs)
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter) rs1278785558
NM_001164508.2(NEB):c.13115dup (p.Ser4373fs)
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter) rs2153930733
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
NM_001164508.2(NEB):c.133_146del (p.Ser45fs) rs1321522421
NM_001164508.2(NEB):c.1365+1G>A
NM_001164508.2(NEB):c.1395_1398dup (p.Gly467fs)
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)
NM_001164508.2(NEB):c.14786del (p.Leu4929fs)
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)
NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)
NM_001164508.2(NEB):c.1517_1518del (p.Thr506fs)
NM_001164508.2(NEB):c.1526del (p.Pro509fs) rs1181351466
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001164508.2(NEB):c.16463del (p.Pro5488fs)
NM_001164508.2(NEB):c.16467dup (p.Leu5490fs)
NM_001164508.2(NEB):c.1674+1G>A rs750585238
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)
NM_001164508.2(NEB):c.168_171dup (p.Ala58fs)
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)
NM_001164508.2(NEB):c.17737-1G>A
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18290_18294delinsGTATAC (p.Asn6097fs)
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18585dup (p.Tyr6196fs)
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
NM_001164508.2(NEB):c.18751dup (p.Met6251fs)
NM_001164508.2(NEB):c.18884dup (p.Leu6295fs)
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter) rs2153700128
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter) rs2095359371
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
NM_001164508.2(NEB):c.20290del (p.Met6764fs)
NM_001164508.2(NEB):c.20320_20323del (p.Thr6774fs)
NM_001164508.2(NEB):c.20441_20445dup (p.Arg6816fs)
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)
NM_001164508.2(NEB):c.20578-1G>C
NM_001164508.2(NEB):c.20659dup (p.Arg6887fs)
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
NM_001164508.2(NEB):c.21153del (p.Tyr7052fs)
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
NM_001164508.2(NEB):c.21538del (p.Glu7180fs)
NM_001164508.2(NEB):c.21630+2T>C
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)
NM_001164508.2(NEB):c.21957_21963del (p.Lys7319fs)
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
NM_001164508.2(NEB):c.22051-2A>C
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2212-1G>A rs2149103521
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22389del (p.Lys7464fs)
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
NM_001164508.2(NEB):c.22695+1G>A
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22880_22881del (p.Lys7627fs)
NM_001164508.2(NEB):c.22883_22884del (p.Glu7628fs)
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)
NM_001164508.2(NEB):c.22906-1G>C
NM_001164508.2(NEB):c.23116del (p.Ile7706fs)
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)
NM_001164508.2(NEB):c.2328del (p.Lys776fs)
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>A
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23645_23646delinsCCGACCACTGTG (p.Ser7882fs)
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23939_23940del (p.Lys7980fs)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs) rs748550315
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs) rs748550315
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24129_24130delinsTAGC (p.Glu8043fs)
NM_001164508.2(NEB):c.24131del (p.Asn8044fs)
NM_001164508.2(NEB):c.24166_24169dup (p.Met8057fs)
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24248del (p.Pro8083fs)
NM_001164508.2(NEB):c.2424_2425del (p.Tyr808_Lys809delinsTer)
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs) rs1559217202
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364dup (p.Val8122fs)
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24579+1G>A
NM_001164508.2(NEB):c.24579+1G>C
NM_001164508.2(NEB):c.24615dup (p.Thr8206fs)
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25151-2A>G
NM_001164508.2(NEB):c.25158_25170del (p.Gln8387fs)
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25404+1G>A
NM_001164508.2(NEB):c.25404+1G>T
NM_001164508.2(NEB):c.25405-1G>A
NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.2783dup (p.Pro928_Asp929insTer)
NM_001164508.2(NEB):c.288_290delinsAA (p.Phe96fs)
NM_001164508.2(NEB):c.3042+2T>G
NM_001164508.2(NEB):c.3123del (p.Val1042fs)
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)
NM_001164508.2(NEB):c.3384del (p.Asp1129fs) rs2099386045
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
NM_001164508.2(NEB):c.3537_3540del (p.Ser1180fs)
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter) rs748453057
NM_001164508.2(NEB):c.3691del (p.His1231fs)
NM_001164508.2(NEB):c.3908dup (p.Leu1303fs)
NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4346_4355del (p.Trp1449fs)
NM_001164508.2(NEB):c.4356del (p.Ile1452fs)
NM_001164508.2(NEB):c.4379del (p.Val1460fs)
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter) rs2154179061
NM_001164508.2(NEB):c.4918_4922del (p.Ser1640fs)
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5292del (p.Asp1765fs)
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001164508.2(NEB):c.5422_5424delinsCT (p.Ala1808fs)
NM_001164508.2(NEB):c.5451+1G>A
NM_001164508.2(NEB):c.5457_5459delinsT (p.Lys1819fs)
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5741dup (p.Asn1914fs)
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)
NM_001164508.2(NEB):c.5976_5977dup (p.Tyr1993fs)
NM_001164508.2(NEB):c.5999dup (p.Asp2000fs)
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.6365del (p.Val2122fs)
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)
NM_001164508.2(NEB):c.6690_6700del (p.His2230fs)
NM_001164508.2(NEB):c.6747del (p.His2249fs)
NM_001164508.2(NEB):c.6752_6753insATCA (p.Met2251fs)
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6818_6819dup (p.Leu2274fs)
NM_001164508.2(NEB):c.6824del (p.Gly2275fs) rs2099060040
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
NM_001164508.2(NEB):c.6993del (p.Val2332fs) rs2099021112
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.7227+1G>A
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
NM_001164508.2(NEB):c.771del (p.Asp258fs)
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.8276dup (p.Leu2760fs)
NM_001164508.2(NEB):c.8293del (p.Ala2765fs)
NM_001164508.2(NEB):c.8422del (p.Ala2808fs)
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)
NM_001164508.2(NEB):c.8445dup (p.Lys2816fs)
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)
NM_001164508.2(NEB):c.8728del (p.Trp2910fs)
NM_001164508.2(NEB):c.934del (p.Tyr312fs) rs2150020225
NM_001164508.2(NEB):c.935dup (p.Tyr312Ter)
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)
NM_001164508.2(NEB):c.9449del (p.Gly3150fs)
NM_001164508.2(NEB):c.9709del (p.Ile3237fs)
NM_001164508.2(NEB):c.9779del (p.Ser3260fs)
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs) rs2074173475
NM_001378183.1(PIEZO2):c.1379-1G>A
NM_001378183.1(PIEZO2):c.1577G>A (p.Trp526Ter)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn) rs1752408604
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1636+1G>C
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.907del (p.Leu303fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)
NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.1207del (p.Arg403fs)
NM_005055.5(RAPSN):c.157del (p.His53fs)
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.39del (p.Leu14fs)
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)
NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.967-2A>G
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del) rs1564792181
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr) rs1564794233
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe) rs1564796294
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr) rs797045070
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_012243.3(SLC35A3):c.634+2dup rs1570615526
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.590del (p.Leu197fs)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly) rs1057518727
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp) rs1556009247
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser) rs1602975455
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg) rs1569318004
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.969+1G>A
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter)
NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter)
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1356_1360del (p.Leu454fs)
NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter)
NM_173660.5(DOK7):c.1476_1477insA (p.Pro493fs)
NM_173660.5(DOK7):c.1501_1502del (p.Asn501fs)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.391_394dup (p.His132fs)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.536_540del (p.Ala179fs)
NM_173660.5(DOK7):c.550del (p.Leu184fs)
NM_173660.5(DOK7):c.682G>T (p.Glu228Ter)
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.746C>G (p.Ser249Ter)
NM_173660.5(DOK7):c.812_815dup (p.His272fs)
NM_173660.5(DOK7):c.851G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.872C>G (p.Ser291Ter)
NM_173660.5(DOK7):c.884C>G (p.Ser295Ter)
NM_173660.5(DOK7):c.944C>G (p.Ser315Ter)
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.976C>T (p.Gln326Ter)
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu) rs1870765797

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