ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2773
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter) rs1364256214 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) rs876659250 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) rs750616657 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter) rs786202195 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter) rs2083444895 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.6629del (p.Gln2210fs) rs2085556498 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6839del (p.Gln2280fs) rs1407907917 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter) rs878853995 0.00001
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) rs796666047 0.00001
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter) rs761702998 0.00001
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter) rs1213894295 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter) rs876658234 0.00001
NM_000465.4(BARD1):c.1817_1818del (p.His606fs) rs587782897 0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) rs760502479 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) rs775167943 0.00001
NM_007194.4(CHEK2):c.622del (p.Asp208fs) rs773955899 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter) rs587782446 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) rs786203346 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter) rs752592662 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2888del (p.Ser963fs) rs587776420 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter) rs587782005 0.00001
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter) rs769240800 0.00001
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter) rs1327399690 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter) rs786203821 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter) rs1603342313 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477 0.00001
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NC_000011.10:g.108227776_108227782del
NC_000011.10:g.108293313del
NC_000011.10:g.108304675del
NM_000051.4(ATM):c.1000_1001insA (p.Ser334fs)
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1012_1014delinsCTTCAGG (p.Asn338fs)
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs) rs2135268548
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1061dup (p.His354fs)
NM_000051.4(ATM):c.1062_1063delinsTT (p.Gln355Ter)
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.4(ATM):c.1073del (p.Asn358fs)
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1078del (p.Asp360fs) rs2135290302
NM_000051.4(ATM):c.1102C>T (p.Gln368Ter)
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1120del (p.Gln374fs) rs2135292079
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1124del (p.Arg375fs) rs1555069653
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs) rs1064795624
NM_000051.4(ATM):c.1128dup (p.Ser377fs)
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer) rs1555069677
NM_000051.4(ATM):c.1152C>A (p.Cys384Ter)
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1171del (p.Glu390_Leu391insTer)
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter) rs876658567
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs) rs2079998938
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)
NM_000051.4(ATM):c.1209_1228delinsTTC (p.Gln404fs)
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1236G>A (p.Trp412Ter)
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.1252C>T (p.Gln418Ter)
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter) rs2135316531
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs) rs1555070694
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter) rs2080097197
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1361_1362del (p.Tyr454fs)
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.4(ATM):c.1374C>A (p.Cys458Ter)
NM_000051.4(ATM):c.1378dup (p.Thr460fs) rs2080101851
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs) rs2080103035
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter) rs2080106350
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1439del (p.Leu480fs)
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1464del (p.Trp488fs) rs1555070994
NM_000051.4(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.4(ATM):c.1479del (p.Gly494fs)
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter) rs786202195
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.1573_1586del (p.Lys525fs)
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1589C>G (p.Ser530Ter)
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.15del (p.Asn6fs)
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.160del (p.Tyr54fs)
NM_000051.4(ATM):c.1621dup (p.Cys541fs)
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer) rs2080164484
NM_000051.4(ATM):c.1653del (p.Pro552fs) rs2080167483
NM_000051.4(ATM):c.1658del (p.Gly553fs) rs1064796556
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1688_1695del (p.Met563fs)
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1718del (p.Lys573fs)
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer) rs1064796083
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter) rs2080176523
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1757del (p.Glu586fs)
NM_000051.4(ATM):c.1762del (p.Asp588fs) rs2135343498
NM_000051.4(ATM):c.1766T>A (p.Leu589Ter)
NM_000051.4(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.4(ATM):c.1790dup (p.Ile598fs)
NM_000051.4(ATM):c.1809del (p.Pro604fs)
NM_000051.4(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer) rs2080230745
NM_000051.4(ATM):c.1880del (p.Phe627fs)
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1882del (p.Gln628fs)
NM_000051.4(ATM):c.1888del (p.Val630fs)
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
NM_000051.4(ATM):c.1903del (p.His635fs)
NM_000051.4(ATM):c.1914_1916delinsGG (p.Asp639fs)
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1919_1921delinsT (p.Lys640fs)
NM_000051.4(ATM):c.191del (p.Leu64fs)
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.1920del (p.Glu641fs)
NM_000051.4(ATM):c.1924delinsCT (p.Glu642fs)
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1935del (p.Ser646fs)
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1956del (p.Leu653fs)
NM_000051.4(ATM):c.1978del (p.Met660fs)
NM_000051.4(ATM):c.1988del (p.Phe662_Leu663insTer)
NM_000051.4(ATM):c.1992del (p.Ile665fs)
NM_000051.4(ATM):c.1993_1994del (p.Ile665fs)
NM_000051.4(ATM):c.1998_2004del (p.Arg667fs)
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.1A>T (p.Met1Leu)
NM_000051.4(ATM):c.2036_2038delinsTCCACCAGAA (p.Gly679fs)
NM_000051.4(ATM):c.2044_2045del (p.Val682fs)
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter) rs769338089
NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)
NM_000051.4(ATM):c.2082del (p.Leu695fs)
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2101del (p.Leu701fs)
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter) rs2080317430
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.4(ATM):c.2117C>A (p.Ser706Ter)
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2136del (p.Glu713fs)
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2184del (p.Tyr729fs)
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2209G>T (p.Glu737Ter)
NM_000051.4(ATM):c.2218del (p.Ala740fs)
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.222_225del (p.Glu73_Cys74insTer)
NM_000051.4(ATM):c.2237del (p.Phe746fs)
NM_000051.4(ATM):c.2262del (p.Gln754fs) rs2080573967
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2289del (p.Phe763fs)
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.229dup (p.Ile77fs) rs1565346867
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs) rs2080577927
NM_000051.4(ATM):c.2314del (p.Arg772fs)
NM_000051.4(ATM):c.2360T>A (p.Leu787Ter)
NM_000051.4(ATM):c.2360del (p.Cys786_Leu787insTer)
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.2379del (p.Ser794fs)
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2388_2389dup (p.Lys797fs)
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
NM_000051.4(ATM):c.242del (p.Asn81fs)
NM_000051.4(ATM):c.2456del (p.Cys819fs) rs2135422280
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.248C>G (p.Ser83Ter)
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer) rs2081303007
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.4(ATM):c.2536_2537dup (p.Leu846_Met847insTer)
NM_000051.4(ATM):c.2551del (p.Asp851fs)
NM_000051.4(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2585del (p.Pro862fs)
NM_000051.4(ATM):c.2586del (p.Asp863fs)
NM_000051.4(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.4(ATM):c.2617G>T (p.Gly873Ter)
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2623del (p.Ser875fs)
NM_000051.4(ATM):c.2654T>A (p.Leu885Ter)
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer) rs1060501679
NM_000051.4(ATM):c.2662G>T (p.Glu888Ter) rs879254083
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
NM_000051.4(ATM):c.2665dup (p.Tyr889fs) rs2135523450
NM_000051.4(ATM):c.2668_2669del (p.Leu890fs)
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.4(ATM):c.2700dup (p.Leu901fs) rs1555083198
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2725_2728dup (p.Thr910fs)
NM_000051.4(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2736del (p.Thr913fs)
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2775del (p.Lys926fs) rs1060501702
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2794del (p.Asp932fs)
NM_000051.4(ATM):c.2797del (p.Ser933fs)
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.281dup (p.Met94fs)
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2865del (p.Gly956fs)
NM_000051.4(ATM):c.2879_2880del (p.Pro960fs)
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2881_2885del (p.Leu961fs)
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2956del (p.Val986fs) rs2135552199
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
NM_000051.4(ATM):c.2965del (p.Thr989fs) rs786203539
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2972T>A (p.Leu991Ter)
NM_000051.4(ATM):c.2977del (p.His993fs)
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
NM_000051.4(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs) rs2135553856
NM_000051.4(ATM):c.3034dup (p.Arg1012fs) rs2135554107
NM_000051.4(ATM):c.3035_3038dup (p.Asp1013fs)
NM_000051.4(ATM):c.3038dup (p.Asp1013fs) rs1131691163
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs) rs2135565843
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
NM_000051.4(ATM):c.311del (p.Phe104fs) rs1555055309
NM_000051.4(ATM):c.3141_3142del (p.Lys1047fs)
NM_000051.4(ATM):c.3146del (p.Leu1049fs)
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter) rs1565428419
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
NM_000051.4(ATM):c.316A>T (p.Lys106Ter)
NM_000051.4(ATM):c.3171dup (p.Trp1058fs) rs2135570105
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
NM_000051.4(ATM):c.3188dup (p.Met1064fs) rs2135570632
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.3230_3231del (p.Phe1077fs)
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs) rs761486324
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.325_326del (p.Asn109fs) rs2135038488
NM_000051.4(ATM):c.3261del (p.Met1087fs) rs1565429054
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter) rs773964990
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.3292dup (p.Gln1098fs)
NM_000051.4(ATM):c.3297del (p.Asp1099fs) rs2082115419
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.3310del (p.Ser1104fs)
NM_000051.4(ATM):c.3310dup (p.Ser1104fs)
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter) rs1049900772
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.334del (p.Ala112fs)
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3352del (p.Thr1118fs) rs2082120435
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter) rs876659825
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.340del (p.Arg114fs)
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
NM_000051.4(ATM):c.3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3439del (p.Ile1147fs)
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter) rs786201209
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.3453dup (p.Ser1152fs) rs2135666539
NM_000051.4(ATM):c.3461del (p.Leu1154fs)
NM_000051.4(ATM):c.3470_3479del (p.Leu1157fs)
NM_000051.4(ATM):c.3475del (p.Ala1159fs)
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3485del (p.Leu1162fs) rs2082207948
NM_000051.4(ATM):c.3509_3510del (p.Lys1170fs)
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3517_3518del (p.Leu1173fs)
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.352C>T (p.Gln118Ter) rs2079235532
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs) rs768356403
NM_000051.4(ATM):c.3589del (p.Val1197fs)
NM_000051.4(ATM):c.3592dup (p.Ser1198fs)
NM_000051.4(ATM):c.3599_3600del (p.Thr1200fs)
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3605del (p.Gly1202fs)
NM_000051.4(ATM):c.3607_3620del (p.Tyr1203fs)
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs) rs876660783
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter) rs772724024
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.4(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.4(ATM):c.3634del (p.Ser1212fs)
NM_000051.4(ATM):c.3656dup (p.Leu1219fs)
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs) rs2082305146
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3750_3751del (p.Cys1251fs)
NM_000051.4(ATM):c.3753T>A (p.Cys1251Ter)
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3771dup (p.His1258fs)
NM_000051.4(ATM):c.3780dup (p.Ile1261fs) rs786202694
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3799G>T (p.Glu1267Ter)
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3807_3811del (p.Lys1269fs)
NM_000051.4(ATM):c.3810_3813delinsAATGG (p.Ile1271fs)
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3837G>A (p.Trp1279Ter)
NM_000051.4(ATM):c.3841del (p.Ser1281fs) rs886039621
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
NM_000051.4(ATM):c.3915_3916del (p.Asp1305fs)
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs) rs2135708324
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
NM_000051.4(ATM):c.3929del (p.Gln1310fs)
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3956_3957del (p.Val1318_Tyr1319insTer)
NM_000051.4(ATM):c.3963delinsTGTGTATGGGTATGGTATGTGTGTTGCTGGTGAGGGGACTTGCTAAGTATTGTTAACTAATTTTAAATTAAACAAATTTCA (p.Met1321delinsIleValTyrGlyTyrGlyMetCysValAlaGlyGluGlyThrCysTer)
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3G>C (p.Met1Ile)
NM_000051.4(ATM):c.4000_4006del (p.His1334fs) rs2135735093
NM_000051.4(ATM):c.4002_4005del (p.Leu1335fs)
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
NM_000051.4(ATM):c.4004T>G (p.Leu1335Ter)
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.4(ATM):c.4066_4072delinsTGTCAGTAACACTAGTTACT (p.Asn1356_Ser1358delinsCysGlnTer)
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4095_4096insCT (p.Cys1366fs)
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4115del (p.Leu1372fs) rs2082638431
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4146del (p.Ser1383fs)
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4158dup (p.Lys1387Ter)
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
NM_000051.4(ATM):c.417del (p.Asp140fs)
NM_000051.4(ATM):c.4188T>A (p.Cys1396Ter)
NM_000051.4(ATM):c.4189dup (p.His1397fs) rs2082644891
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter) rs1555096975
NM_000051.4(ATM):c.4210del (p.Ile1404fs)
NM_000051.4(ATM):c.4214T>G (p.Leu1405Ter)
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4236del (p.Asp1413fs) rs1565455297
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter) rs1591662598
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4258_4259del (p.Leu1420fs)
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4299_4300del (p.Tyr1433_Lys1434delinsTer)
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer) rs1064792938
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs) rs2135762355
NM_000051.4(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter) rs772555314
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)
NM_000051.4(ATM):c.4465dup (p.Arg1489fs)
NM_000051.4(ATM):c.4473del (p.Ser1492fs)
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter) rs1329359780
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
NM_000051.4(ATM):c.4495_4496insTAAA (p.Ser1499fs)
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.4572dup (p.Ile1525fs)
NM_000051.4(ATM):c.4573dup (p.Ile1525fs)
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4592del (p.Gln1531fs)
NM_000051.4(ATM):c.4603del (p.Gln1535fs)
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
NM_000051.4(ATM):c.4612_4621del (p.Val1538fs)
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
NM_000051.4(ATM):c.4622del (p.Leu1541fs) rs2135809766
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.465C>A (p.Tyr155Ter)
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664_4665insATATATCTATATATAGGTTTTAGATCCTATATCTATATCTATATAGGATCTAAAAG (p.Ile1557_Thr1558insTyrIleTerTyrIle)
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4665_4666del (p.Ile1557fs)
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.468del (p.Trp156fs) rs2079245902
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
NM_000051.4(ATM):c.4698dup (p.Asp1567Ter)
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)
NM_000051.4(ATM):c.4741del (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)
NM_000051.4(ATM):c.4761dup (p.Phe1588fs) rs1591677757
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.4(ATM):c.4777-2A>C
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4796C>A (p.Ser1599Ter)
NM_000051.4(ATM):c.4799dup (p.Ser1601fs) rs2135834235
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4808_4809del (p.Val1602_Tyr1603insTer)
NM_000051.4(ATM):c.4823T>A (p.Leu1608Ter)
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
NM_000051.4(ATM):c.4864del (p.Glu1622fs) rs2083042256
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.4(ATM):c.4909+1G>T rs756987454
NM_000051.4(ATM):c.4909+1del
NM_000051.4(ATM):c.4909+2T>C
NM_000051.4(ATM):c.4918dup (p.Gln1640fs)
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
NM_000051.4(ATM):c.4929del (p.Met1644fs) rs2083175858
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.4955del (p.Leu1652fs)
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
NM_000051.4(ATM):c.5001del (p.Val1667_Leu1668insTer)
NM_000051.4(ATM):c.5013del (p.Gly1672fs)
NM_000051.4(ATM):c.5015_5018del (p.Gly1672fs)
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5091_5094delinsAA (p.Lys1698fs)
NM_000051.4(ATM):c.5098del (p.Lys1701fs) rs1555104689
NM_000051.4(ATM):c.50_51del (p.His17fs) rs775561876
NM_000051.4(ATM):c.5100del (p.Lys1701fs)
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter) rs886039627
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
NM_000051.4(ATM):c.5216del (p.Asn1739fs)
NM_000051.4(ATM):c.5250G>A (p.Trp1750Ter)
NM_000051.4(ATM):c.5272_5273del (p.Asp1758fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs) rs2135914733
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
NM_000051.4(ATM):c.5344A>T (p.Lys1782Ter)
NM_000051.4(ATM):c.5346dup (p.Glu1783fs) rs2135927478
NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5358_5377dup (p.Asn1793delinsMetLysAlaTrpMetIleTer)
NM_000051.4(ATM):c.5372dup (p.Asp1791fs)
NM_000051.4(ATM):c.5374_5385delinsTCCTCTAAGTGA (p.Ile1792_Trp1795delinsSerSerLysTer)
NM_000051.4(ATM):c.5381del (p.Leu1794fs)
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5402dup (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5403_5413del (p.Asn1801fs)
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5415_5416insTCCT (p.Ile1806fs)
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5425del (p.Thr1808_Leu1809insTer)
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs) rs2135929688
NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)
NM_000051.4(ATM):c.5441del (p.Leu1814fs)
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5443del (p.Asp1815fs) rs878853522
NM_000051.4(ATM):c.5447_5468del (p.Ser1816fs)
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter) rs1555106553
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.552_553del (p.Arg184fs)
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter) rs2135943149
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5550dup (p.Leu1851fs)
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554_5557delinsTAAA (p.Gln1852_Asp1853delinsTer)
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5568dup (p.Ser1857fs)
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter) rs2135944016
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5632del (p.Ser1878fs)
NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5650del (p.Thr1884fs)
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.4(ATM):c.5657del (p.Pro1886fs) rs2135946188
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5698del (p.Cys1900fs)
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5732_5748del (p.Ala1911fs) rs1565486174
NM_000051.4(ATM):c.5736del (p.Val1913fs)
NM_000051.4(ATM):c.573dup (p.His192fs)
NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs) rs1555109177
NM_000051.4(ATM):c.5763-2A>C rs876659489
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5765del (p.Pro1922fs) rs786202814
NM_000051.4(ATM):c.5770del (p.Ser1924fs)
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5777_5778delinsGGTCTTCTTTAGACCTTTAGACCTTTCTTTAGACCTTCTTCAGGAAGCATC (p.Thr1926delinsArgSerSerLeuAspLeuTer)
NM_000051.4(ATM):c.5784dup (p.Asn1929Ter) rs1131691254
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5800_5803delinsATA (p.Leu1934fs)
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.4(ATM):c.5839del (p.Ser1947fs) rs2136015541
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs) rs1060501657
NM_000051.4(ATM):c.5878del (p.Ile1960fs)
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5917del (p.Arg1973fs)
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5934del (p.Glu1979fs)
NM_000051.4(ATM):c.5937_5938delinsGT (p.Gly1980Ter)
NM_000051.4(ATM):c.5938_5939delinsA (p.Gly1980fs)
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5971_5979delinsA (p.Glu1991fs)
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5982dup (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
NM_000051.4(ATM):c.6022del (p.Ile2008fs)
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs) rs1591776808
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6055dup (p.Tyr2019fs)
NM_000051.4(ATM):c.6060_6064dup (p.Gly2022fs)
NM_000051.4(ATM):c.6063_6064insA (p.Gly2022fs)
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter) rs3092826
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6147T>G (p.Tyr2049Ter)
NM_000051.4(ATM):c.614T>A (p.Leu205Ter)
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
NM_000051.4(ATM):c.6173del (p.Ser2057_Ser2058insTer)
NM_000051.4(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter) rs1555113845
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter) rs1591789046
NM_000051.4(ATM):c.6215del (p.Gly2072fs) rs2084775383
NM_000051.4(ATM):c.621del (p.Lys208fs) rs2079706212
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter) rs2136164699
NM_000051.4(ATM):c.6246del (p.Gly2083fs)
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6284_6290dup (p.Glu2097fs)
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.62_63del (p.Thr21fs)
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter) rs1064794143
NM_000051.4(ATM):c.6319dup (p.Met2107fs)
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
NM_000051.4(ATM):c.6323dup (p.Trp2109fs) rs2136169465
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6335del (p.Cys2112fs)
NM_000051.4(ATM):c.6352G>T (p.Glu2118Ter)
NM_000051.4(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6371_6373delinsT (p.Tyr2124fs)
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter) rs2085081161
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6399del (p.Gln2133fs) rs1555116451
NM_000051.4(ATM):c.6399dup (p.Ser2134fs) rs1555116451
NM_000051.4(ATM):c.639_640del (p.Ser214fs)
NM_000051.4(ATM):c.6401_6404del (p.Gln2133_Ser2134insTer)
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6405_6407delinsC (p.Asp2137fs)
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.4(ATM):c.6441del (p.Lys2148fs)
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs) rs1555116533
NM_000051.4(ATM):c.6450dup (p.Arg2151fs) rs2136222670
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs) rs1060501707
NM_000051.4(ATM):c.650_653del (p.Ile217fs)
NM_000051.4(ATM):c.6513del (p.Thr2172fs)
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs) rs2085200653
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6614G>A (p.Trp2205Ter)
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs) rs768909644
NM_000051.4(ATM):c.6638del (p.Lys2213fs)
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs) rs864622326
NM_000051.4(ATM):c.6651dup (p.Ser2218Ter)
NM_000051.4(ATM):c.6657del (p.Gln2220fs) rs876658603
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
NM_000051.4(ATM):c.6667_6701del (p.Ile2223fs)
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
NM_000051.4(ATM):c.6673dup (p.Ala2225fs) rs587781872
NM_000051.4(ATM):c.6684dup (p.Val2229fs)
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
NM_000051.4(ATM):c.669_673del (p.Lys224fs)
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6718del (p.Asp2240fs)
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter) rs1565518711
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6733_6734del (p.Glu2245fs)
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
NM_000051.4(ATM):c.6743del (p.Lys2248fs)
NM_000051.4(ATM):c.6747del (p.Asp2249fs)
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs) rs863224461
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter) rs2085584895
NM_000051.4(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.4(ATM):c.6829del (p.Gln2277fs) rs2136332132
NM_000051.4(ATM):c.6834_6838del (p.Lys2279fs)
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.4(ATM):c.684_687delinsCCT (p.Asn230fs) rs2135237416
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6869_6879del (p.Glu2290fs)
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6874C>T (p.Gln2292Ter)
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
NM_000051.4(ATM):c.6886del (p.Ala2296fs)
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
NM_000051.4(ATM):c.6894del (p.Phe2299fs)
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter)
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7011_7012delinsAA (p.Cys2337_Leu2338delinsTer)
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7013dup (p.Arg2339fs)
NM_000051.4(ATM):c.7015_7031del (p.Arg2339fs)
NM_000051.4(ATM):c.7030_7043del (p.Trp2344fs)
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.4(ATM):c.7069_7081del (p.Ile2356_Met2357insTer)
NM_000051.4(ATM):c.706_707del (p.Leu236fs)
NM_000051.4(ATM):c.706dup (p.Leu236fs) rs2135238203
NM_000051.4(ATM):c.7076_7085del (p.Thr2359fs)
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs) rs2136379109
NM_000051.4(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.4(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.7115del (p.Asp2372fs)
NM_000051.4(ATM):c.7152_7159del (p.Met2384fs)
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7169T>A (p.Leu2390Ter)
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter) rs2085985186
NM_000051.4(ATM):c.71del (p.Lys24fs)
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.4(ATM):c.7221del (p.Ser2408fs)
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs) rs1591151678
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs) rs1591152021
NM_000051.4(ATM):c.728dup (p.Leu243fs) rs2135238938
NM_000051.4(ATM):c.7297del (p.Gln2433fs) rs2136423753
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.7299del (p.Thr2434fs)
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer) rs1591159614
NM_000051.4(ATM):c.7318A>T (p.Lys2440Ter)
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7331_7332del (p.Glu2444fs)
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
NM_000051.4(ATM):c.7368del (p.Glu2457fs)
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.4(ATM):c.7406dup (p.Asn2469fs) rs2086123262
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
NM_000051.4(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
NM_000051.4(ATM):c.7457_7467del (p.Arg2486fs)
NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs) rs786203734
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter) rs2136463344
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter) rs772228129
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7575dup (p.Arg2526Ter)
NM_000051.4(ATM):c.7584del (p.Thr2529fs)
NM_000051.4(ATM):c.75_78del rs1565344409
NM_000051.4(ATM):c.7608del (p.His2538fs) rs1565532554
NM_000051.4(ATM):c.7626del (p.Asn2542fs)
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7630-1G>C
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer) rs1555124503
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter) rs2086293039
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7684_7685del (p.Ala2562fs)
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7705del (p.Asp2569fs) rs2136522117
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter) rs1555124587
NM_000051.4(ATM):c.7720_7729del (p.Thr2573_Lys2574insTer)
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter) rs2086308918
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.777del (p.Thr261fs)
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7793_7798delinsCC (p.Arg2598fs)
NM_000051.4(ATM):c.7799_7800del (p.Glu2600fs)
NM_000051.4(ATM):c.7811_7815dup (p.Ile2606delinsGluTer)
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs) rs2086410142
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs) rs1591178362
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7845_7846del (p.Gln2615fs)
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter) rs1591178998
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
NM_000051.4(ATM):c.7903dup (p.Ala2635fs)
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter) rs2136572656
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7925_7926del (p.Arg2642fs)
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
NM_000051.4(ATM):c.7943del (p.Pro2648fs)
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8043dup (p.Thr2682fs) rs2086672570
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs) rs2086675006
NM_000051.4(ATM):c.8051del (p.Gln2684fs)
NM_000051.4(ATM):c.8051dup (p.Ser2685fs) rs1591191449
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
NM_000051.4(ATM):c.805dup (p.His269fs)
NM_000051.4(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.4(ATM):c.807dup (p.Arg270Ter)
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8101dup (p.Ile2701fs) rs2086682689
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs) rs2136663735
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
NM_000051.4(ATM):c.8182dup (p.Met2728fs) rs2136693800
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8225del (p.Asn2742fs)
NM_000051.4(ATM):c.8230_8231delinsT (p.Thr2743_Glu2744insTer)
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8249_8258delinsCAAATAGT (p.Leu2750fs)
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8251_8254del (p.Thr2751fs) rs786202120
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8265del (p.Thr2754_Tyr2755insTer)
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.4(ATM):c.8332G>T (p.Glu2778Ter)
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs) rs786202418
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
NM_000051.4(ATM):c.8381_8382delinsC (p.Asn2794fs)
NM_000051.4(ATM):c.8387_8397del (p.Phe2796fs)
NM_000051.4(ATM):c.8387del (p.Phe2796fs)
NM_000051.4(ATM):c.8394_8396delinsTGATA (p.Phe2799fs)
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.4(ATM):c.8408del (p.Lys2803fs) rs1591249359
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter) rs1131691158
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter) rs2137026687
NM_000051.4(ATM):c.8457del (p.Phe2820fs)
NM_000051.4(ATM):c.8466_8479delinsC (p.Val2823fs)
NM_000051.4(ATM):c.8472C>A (p.Cys2824Ter)
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter) rs1555138125
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.8492del (p.Phe2831fs)
NM_000051.4(ATM):c.8504dup (p.Cys2835fs) rs2137031805
NM_000051.4(ATM):c.8508delinsTTT (p.Met2836fs)
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.8517_8518del (p.Leu2840fs)
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs) rs2088299549
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
NM_000051.4(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
NM_000051.4(ATM):c.8585-1G>A rs876660066
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8622_8624delinsTT (p.Gln2874fs)
NM_000051.4(ATM):c.8624del (p.Asn2875fs)
NM_000051.4(ATM):c.8624dup (p.Asn2875fs) rs876660411
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
NM_000051.4(ATM):c.8630T>A (p.Leu2877Ter)
NM_000051.4(ATM):c.8652dup (p.Leu2885fs) rs2088559453
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8659_8662del (p.Val2886_His2887insTer)
NM_000051.4(ATM):c.8676dup (p.Ala2893fs) rs2089492486
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter) rs2137286457
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8731dup (p.Thr2911fs) rs2137291352
NM_000051.4(ATM):c.8764_8768delinsTGTC (p.Gly2922fs)
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.879del (p.Gly294fs)
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter) rs876658959
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs) rs2089695236
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8834dup (p.Leu2946fs)
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs) rs2091198449
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer) rs864622669
NM_000051.4(ATM):c.8874dup (p.Asp2959Ter) rs864622669
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter) rs1555151315
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8923del (p.Glu2975fs) rs2137879945
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer) rs1555151395
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs) rs2137881586
NM_000051.4(ATM):c.8940dup (p.His2981fs)
NM_000051.4(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter) rs147695170
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs) rs876660022
NM_000051.4(ATM):c.9005del (p.Phe3002fs) rs876659235
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs) rs2137906600
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.900dup (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter) rs2137911487
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) rs1555151827
NM_000051.4(ATM):c.9051del (p.Gly3019fs)
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter) rs2091244384
NM_000051.4(ATM):c.9073del (p.Val3025fs) rs1555151928
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
NM_000051.4(ATM):c.944del (p.Leu315fs) rs1565375035
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer) rs2135265742
NM_000051.4(ATM):c.975del (p.His325fs) rs2079883068
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000051.4(ATM):c.979G>T (p.Gly327Ter)
NM_000051.4(ATM):c.988G>T (p.Gly330Ter)
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.995_996del (p.Tyr332fs)
NM_000465.4(BARD1):c.1002del (p.Arg335fs) rs1694972839
NM_000465.4(BARD1):c.100dup (p.Trp34fs) rs1553628410
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
NM_000465.4(BARD1):c.1021dup (p.Leu341fs) rs1553622300
NM_000465.4(BARD1):c.1023del (p.Ser342fs) rs876660061
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
NM_000465.4(BARD1):c.103del (p.Ala35fs)
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter) rs2106109048
NM_000465.4(BARD1):c.105_135del (p.His36fs)
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter) rs786202559
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
NM_000465.4(BARD1):c.1069dup (p.Ile357fs) rs2106108903
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter) rs1553622218
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs) rs1694949382
NM_000465.4(BARD1):c.1194del (p.Thr398_Leu399insTer)
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter) rs1172609046
NM_000465.4(BARD1):c.1210del (p.Tyr404fs) rs1694947319
NM_000465.4(BARD1):c.1211dup (p.Tyr404Ter) rs1553622178
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs) rs1553622164
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs) rs1553622160
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer) rs1553622145
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) rs786203533
NM_000465.4(BARD1):c.1270del (p.Arg424fs) rs876660911
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs) rs1553622103
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs) rs1574815812
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
NM_000465.4(BARD1):c.1323dup (p.Pro442fs) rs1694365908
NM_000465.4(BARD1):c.1325del (p.Pro442fs) rs1060501287
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs) rs1694365276
NM_000465.4(BARD1):c.1329del (p.Val444fs) rs767587416
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter) rs761702998
NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter) rs1553619721
NM_000465.4(BARD1):c.1345del (p.Gln449fs) rs2106081379
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs) rs1553619713
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1371dup (p.Asp458fs) rs1553619704
NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter) rs1370053894
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter) rs1553619349
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer) rs1559410146
NM_000465.4(BARD1):c.1429del (p.Val477fs)
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
NM_000465.4(BARD1):c.1486_1489dup (p.Pro497fs)
NM_000465.4(BARD1):c.1499dup (p.Asp500fs) rs1553619258
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
NM_000465.4(BARD1):c.157del (p.Cys53fs) rs1696452439
NM_000465.4(BARD1):c.1590_1617del (p.Val531fs)
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
NM_000465.4(BARD1):c.1620del (p.Lys540fs) rs1693504040
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter) rs777937955
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs) rs1553616352
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter) rs876658429
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs) rs1553616361
NM_000465.4(BARD1):c.1656del (p.Ser553fs) rs1574756047
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter) rs1553615135
NM_000465.4(BARD1):c.1746_1747del (p.Lys583fs)
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs) rs1574739207
NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter)
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1771del (p.Ile591fs) rs1574739114
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer) rs1693074467
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs) rs1553615102
NM_000465.4(BARD1):c.1788del (p.Lys596fs) rs1574739005
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer) rs1553615092
NM_000465.4(BARD1):c.1819del (p.Val607fs)
NM_000465.4(BARD1):c.1829del (p.Pro610fs) rs1693042024
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter) rs751710099
NM_000465.4(BARD1):c.184del (p.Cys62fs) rs1559441846
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter) rs1692308262
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter) rs773223671
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer) rs587780024
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter) rs1350570988
NM_000465.4(BARD1):c.1944del (p.Glu649fs)
NM_000465.4(BARD1):c.1949del (p.Lys650fs) rs1692302934
NM_000465.4(BARD1):c.1970del (p.Pro657fs) rs786203739
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.4(BARD1):c.199del (p.Glu67fs)
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter) rs1328046615
NM_000465.4(BARD1):c.2024del (p.Cys675fs) rs2105987971
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter) rs1692227690
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs) rs1553612222
NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter) rs1559372578
NM_000465.4(BARD1):c.2063dup (p.Asp689fs) rs1064796026
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs) rs1692216921
NM_000465.4(BARD1):c.2137_2141del (p.Val713fs)
NM_000465.4(BARD1):c.2138del (p.Val713fs)
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter) rs1553612164
NM_000465.4(BARD1):c.2144dup (p.Thr716fs) rs1574703115
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.2157_2160dup (p.Ala721fs)
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs) rs1692211675
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter) rs2105986813
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2262del (p.Val755fs)
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer) rs1559371635
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter) rs1559437226
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
NM_000465.4(BARD1):c.266del (p.Pro89fs) rs1553624802
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter) rs1559437094
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter) rs2106135008
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer) rs1553624801
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
NM_000465.4(BARD1):c.292_295del (p.Asn98fs) rs1553624758
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) rs786201912
NM_000465.4(BARD1):c.302del (p.Leu101fs)
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter) rs2106134639
NM_000465.4(BARD1):c.35del (p.Pro12fs)
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
NM_000465.4(BARD1):c.415_416del (p.Lys139fs) rs1420243208
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
NM_000465.4(BARD1):c.434dup (p.Met145fs)
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter) rs587781806
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
NM_000465.4(BARD1):c.441dup (p.Ser148Ter) rs1553622681
NM_000465.4(BARD1):c.457_460dup (p.Val154fs) rs772486760
NM_000465.4(BARD1):c.461_464del (p.Val154fs)
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter) rs1553622669
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs) rs1553628445
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter) rs750350372
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) rs786202500
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
NM_000465.4(BARD1):c.513del (p.Asp172fs)
NM_000465.4(BARD1):c.513dup (p.Asp172fs) rs746325928
NM_000465.4(BARD1):c.517dup (p.Ala173fs) rs1574821129
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000465.4(BARD1):c.543del (p.Glu181fs)
NM_000465.4(BARD1):c.550del (p.Ser184fs)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs) rs1574820590
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
NM_000465.4(BARD1):c.614del (p.Lys205fs) rs1559425604
NM_000465.4(BARD1):c.614dup (p.Gln206fs) rs1559425604
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs) rs1695009134
NM_000465.4(BARD1):c.623del (p.Lys208fs)
NM_000465.4(BARD1):c.623dup (p.Lys209fs) rs587780033
NM_000465.4(BARD1):c.624dup (p.Lys209fs) rs1553622558
NM_000465.4(BARD1):c.627_628del (p.Lys209fs) rs864622223
NM_000465.4(BARD1):c.628del (p.Thr210fs)
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter) rs762171436
NM_000465.4(BARD1):c.632dup (p.Leu211fs) rs999444545
NM_000465.4(BARD1):c.646del (p.Gln216fs) rs1553622542
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter) rs1553622534
NM_000465.4(BARD1):c.657_660del (p.Asn219fs) rs587781671
NM_000465.4(BARD1):c.65_101del (p.Ser22fs) rs1574869326
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter) rs1064793049
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
NM_000465.4(BARD1):c.684del (p.Glu228fs)
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs) rs876659040
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter) rs905491643
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter) rs587780035
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter) rs587781430
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
NM_000465.4(BARD1):c.741_750del (p.Ile249fs) rs1559425098
NM_000465.4(BARD1):c.776del (p.Asp259fs)
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter) rs587780037
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
NM_000465.4(BARD1):c.808G>T (p.Glu270Ter) rs1060501288
NM_000465.4(BARD1):c.810del (p.Glu270fs)
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
NM_000465.4(BARD1):c.829G>T (p.Glu277Ter)
NM_000465.4(BARD1):c.838_839del (p.Leu280fs) rs876659752
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer) rs2106110129
NM_000465.4(BARD1):c.858dup (p.Glu287fs) rs1553622397
NM_000465.4(BARD1):c.860_861del (p.Glu287fs) rs786201868
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
NM_000465.4(BARD1):c.873dup (p.Lys292Ter) rs1553622378
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
NM_000465.4(BARD1):c.925dup (p.Thr309fs) rs2106109750
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter) rs587781728
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
NM_000465.4(BARD1):c.974_986del (p.His325fs)
NM_000465.4(BARD1):c.975_976del (p.His325fs)
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer) rs1482641121
NM_001330368.2(C11orf65):c.641-26773del
NM_001330368.2(C11orf65):c.641-6751dup rs1555113505
NM_001349956.2(CHEK2):c.444+119del
NM_001407314.1(PALB2):c.49-1193del rs1597091518
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter) rs2145841361
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) rs1569120831
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) rs2054330803
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) rs878854908
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
NM_007194.4(CHEK2):c.1050del (p.Glu351fs) rs2052610542
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) rs1555914279
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) rs878854909
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) rs1064793566
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) rs1555913941
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) rs1555913894
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) rs1601723175
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) rs1060502684
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) rs1064794965
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) rs758677815
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) rs886039631
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) rs587780169
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) rs1569113653
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) rs876658302
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) rs876658302
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) rs1555913672
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs) rs2052553224
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) rs587781836
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) rs786203031
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter) rs773380144
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) rs1064796572
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) rs878854913
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs) rs2145801350
NM_007194.4(CHEK2):c.1248del (p.Leu417fs) rs2145801216
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) rs587780173
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) rs771772104
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) rs1555913494
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) rs1555913493
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) rs2145794764
NM_007194.4(CHEK2):c.1314del (p.Gln439fs) rs2145794535
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) rs1555913464
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
NM_007194.4(CHEK2):c.1332del (p.Lys444fs) rs2145794013
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) rs1601719469
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) rs876659639
NM_007194.4(CHEK2):c.133del (p.Thr45fs) rs1555932518
NM_007194.4(CHEK2):c.1341del (p.Phe447fs) rs2145793726
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) rs1601719328
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter) rs1555913429
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter) rs1601719186
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) rs730881702
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter) rs876659827
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) rs2052513579
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) rs1555913161
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) rs2052472184
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter) rs2145784977
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) rs1555913106
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) rs1555913078
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) rs1199577809
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) rs1601715852
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) rs1601715865
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) rs1420382294
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) rs1555912044
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) rs2052245881
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) rs757016287
NM_007194.4(CHEK2):c.1500_1501delinsAT (p.Glu501Ter)
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) rs587782707
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) rs587782489
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) rs587781592
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) rs1555912001
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) rs886039512
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.159_160del (p.His54fs) rs2054324732
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs) rs2054321037
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) rs766416564
NM_007194.4(CHEK2):c.222del (p.Pro75fs) rs2146147030
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs) rs2146146624
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) rs1555932326
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) rs1555932231
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
NM_007194.4(CHEK2):c.276del (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) rs876661156
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) rs786203889
NM_007194.4(CHEK2):c.282del (p.Arg95fs) rs1064795959
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
NM_007194.4(CHEK2):c.292del (p.Ala98fs) rs1555932116
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) rs2054311767
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) rs1555932913
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) rs1555927374
NM_007194.4(CHEK2):c.349del (p.Arg117fs) rs2146071079
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) rs1555927312
NM_007194.4(CHEK2):c.364del (p.Glu122fs) rs786203355
NM_007194.4(CHEK2):c.366del (p.Glu122fs) rs1555927302
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) rs1275395933
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) rs1569158640
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
NM_007194.4(CHEK2):c.405del (p.Lys135fs) rs730881699
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
NM_007194.4(CHEK2):c.432del (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) rs1555927148
NM_007194.4(CHEK2):c.433del (p.Arg145fs) rs1555927137
NM_007194.4(CHEK2):c.449del (p.Val150fs) rs1601824270
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) rs1555926975
NM_007194.4(CHEK2):c.452del (p.Gly151fs) rs2053949167
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) rs1555926996
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) rs1225437533
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) rs864622453
NM_007194.4(CHEK2):c.507del (p.Phe169fs) rs587780183
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) rs1601823546
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) rs587780184
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) rs796389290
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
NM_007194.4(CHEK2):c.537del (p.Lys179fs) rs2053940893
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
NM_007194.4(CHEK2):c.557del (p.Asn186fs) rs2146057730
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.600del (p.Phe202fs) rs1555924538
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) rs886039609
NM_007194.4(CHEK2):c.606del (p.Phe202fs) rs886039609
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) rs886039609
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) rs1569149953
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) rs767253467
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter) rs1601805632
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
NM_007194.4(CHEK2):c.673del (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) rs1342011335
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) rs1601784008
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) rs753972711
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) rs1601783879
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) rs1392940377
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter) rs2145951132
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer) rs2053412352
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.760del (p.Arg254fs) rs2145949827
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) rs2053407842
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter) rs730881686
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) rs2145948828
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) rs376736188
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) rs1474786480
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) rs749963436
NM_007194.4(CHEK2):c.823del (p.Glu275fs) rs769430546
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
NM_007194.4(CHEK2):c.836del (p.Lys279fs) rs1555920142
NM_007194.4(CHEK2):c.842dup (p.Asn281fs) rs2053330207
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) rs1555917031
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
NM_007194.4(CHEK2):c.869del (p.Asn290fs) rs1422634212
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.876del (p.Phe292fs) rs772683219
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) rs772683219
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
NM_007194.4(CHEK2):c.879del (p.Asp293fs) rs1555916968
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) rs1390889028
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
NM_007194.4(CHEK2):c.906del (p.Glu302fs) rs2052974883
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) rs1233699096
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter) rs1555915533
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
NM_007194.4(CHEK2):c.920del (p.Gly307fs) rs786203053
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) rs786203053
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) rs1569121048
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter) rs2054331180
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
NM_007194.4(CHEK2):c.993del (p.Met331fs)
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs) rs1555460682
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter) rs1967002667
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) rs1555461488
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter) rs1060499812
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1042del (p.Gln348fs) rs1597097408
NM_024675.4(PALB2):c.1046del (p.Asn349fs) rs1555461484
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs) rs1060499813
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) rs1060502788
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs) rs180177099
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs) rs2142426926
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs) rs1555461460
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer) rs1555461472
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs) rs2142426385
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer) rs1597097182
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs) rs786203399
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs) rs2142425504
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter) rs587776411
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
NM_024675.4(PALB2):c.1114dup (p.Ser372fs) rs1060499815
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter) rs1597097072
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs) rs2142424706
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
NM_024675.4(PALB2):c.1156del (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.1156dup (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter) rs876659319
NM_024675.4(PALB2):c.1163dup (p.Leu389fs) rs869312772
NM_024675.4(PALB2):c.1179dup (p.His394fs) rs1567221417
NM_024675.4(PALB2):c.1183del (p.Ser395fs) rs1555461415
NM_024675.4(PALB2):c.1186dup (p.Cys396fs) rs1555461413
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
NM_024675.4(PALB2):c.118del (p.Arg40fs) rs1597101532
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
NM_024675.4(PALB2):c.1206del (p.Leu403fs) rs876658431
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
NM_024675.4(PALB2):c.120del (p.Ala41fs)
NM_024675.4(PALB2):c.1216del (p.Ala406fs) rs876659741
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter) rs1966983494
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) rs1555461386
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer) rs1555461385
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer) rs1555461366
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
NM_024675.4(PALB2):c.1291_1292del (p.His432fs) rs786203057
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
NM_024675.4(PALB2):c.12dup (p.Pro5fs) rs879254062
NM_024675.4(PALB2):c.1314del (p.Phe440fs) rs515726065
NM_024675.4(PALB2):c.1317del (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter) rs2142419403
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter) rs1555461339
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
NM_024675.4(PALB2):c.1352dup (p.Leu451fs) rs1597096326
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs) rs2142418386
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.4(PALB2):c.1369del (p.Glu457fs) rs2142418150
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter) rs876658166
NM_024675.4(PALB2):c.1392del (p.Met465fs)
NM_024675.4(PALB2):c.1394_1395insAGAC (p.Met465fs)
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter) rs886039479
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter) rs876659341
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter) rs1057520653
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
NM_024675.4(PALB2):c.1440del (p.Lys480fs) rs1555461278
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs) rs1966967463
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter) rs1057520736
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs) rs2142415370
NM_024675.4(PALB2):c.1465del (p.Ser489fs) rs1064793220
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
NM_024675.4(PALB2):c.1479del (p.Thr494fs) rs515726071
NM_024675.4(PALB2):c.1485del (p.Asp496fs) rs1555461256
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter) rs1966959467
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter) rs1567220802
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
NM_024675.4(PALB2):c.1538del (p.Thr513fs) rs879253892
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
NM_024675.4(PALB2):c.1546del (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1546dup (p.Arg516fs) rs587781560
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter) rs1060502805
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter) rs1060502805
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
NM_024675.4(PALB2):c.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter) rs587776413
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
NM_024675.4(PALB2):c.1619dup (p.Asn540fs) rs1555461192
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter) rs1241049372
NM_024675.4(PALB2):c.1644del (p.His549fs)
NM_024675.4(PALB2):c.1645del (p.His549fs)
NM_024675.4(PALB2):c.1647del (p.His549fs)
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter) rs1555461178
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter) rs118203997
NM_024675.4(PALB2):c.1653del (p.Gln552fs) rs1555461174
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer) rs515726073
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1714del (p.Ser572fs) rs879254121
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs) rs1555460671
NM_024675.4(PALB2):c.1742del (p.Leu581fs) rs1060502803
NM_024675.4(PALB2):c.1753del (p.Asp585fs) rs1555460670
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter) rs1966866081
NM_024675.4(PALB2):c.1789del (p.Met597fs) rs1555460650
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter) rs886039747
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter) rs1966865838
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter) rs876660475
NM_024675.4(PALB2):c.1807del (p.Leu603fs) rs2142388816
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs) rs1060499818
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter) rs1967100637
NM_024675.4(PALB2):c.1824dup (p.Ile609fs) rs1966865368
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter) rs1966865214
NM_024675.4(PALB2):c.1838del (p.Gln613fs) rs1057517602
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
NM_024675.4(PALB2):c.1857del (p.Phe619fs) rs1966864847
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
NM_024675.4(PALB2):c.185del (p.Asp62fs)
NM_024675.4(PALB2):c.1880_1881del (p.Val627fs) rs1597090903
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter) rs1555460592
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1926del (p.Met642fs)
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter) rs1555460579
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
NM_024675.4(PALB2):c.1965del (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.1965dup (p.Pro656fs) rs1597090596
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) rs786204129
NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs)
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs) rs1966862408
NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter) rs1555460542
NM_024675.4(PALB2):c.1972del (p.Glu658fs) rs1555460548
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter) rs1555460533
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs) rs2142384044
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
NM_024675.4(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter) rs1966861886
NM_024675.4(PALB2):c.2016dup (p.Glu673fs) rs1966861906
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
NM_024675.4(PALB2):c.204del (p.Lys68fs) rs1555462031
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter) rs749602688
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter) rs2142382015
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter) rs1567218141
NM_024675.4(PALB2):c.2092del (p.Leu698fs) rs1060499819
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter) rs763745734
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs) rs1555460490
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
NM_024675.4(PALB2):c.2105dup (p.Leu703fs) rs2142381049
NM_024675.4(PALB2):c.2120del (p.Pro707fs) rs587780210
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter) rs1597090059
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs) rs515726081
NM_024675.4(PALB2):c.2154del (p.Arg718fs) rs730881867
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs) rs1555460465
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
NM_024675.4(PALB2):c.2161del (p.Thr721fs) rs1597089904
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs) rs1597089845
NM_024675.4(PALB2):c.2187del (p.Ile730fs) rs1567217908
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter) rs1567217898
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs) rs1555460457
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs) rs1555460442
NM_024675.4(PALB2):c.2223_2224delinsG rs1567217830
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter) rs730881888
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) rs1555460431
NM_024675.4(PALB2):c.224_228del (p.Lys75fs) rs1064795640
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs) rs1555460423
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter) rs515726083
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2292dup (p.Asp765fs)
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) rs876658170
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
NM_024675.4(PALB2):c.2298dup (p.Val767fs) rs1555460407
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
NM_024675.4(PALB2):c.2310del (p.Ser771fs)
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs) rs2142374907
NM_024675.4(PALB2):c.2359dup (p.Thr787fs) rs2142374794
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter) rs1060502768
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs) rs1966856749
NM_024675.4(PALB2):c.2405del (p.Cys802fs) rs1966856604
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer) rs1966856585
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs) rs1555460325
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter) rs1555460323
NM_024675.4(PALB2):c.2470del (p.Cys824fs) rs876658348
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs) rs1555460315
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter) rs1966855759
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
NM_024675.4(PALB2):c.249del (p.His83fs)
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter) rs587778587
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter) rs750650768
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs) rs1597088146
NM_024675.4(PALB2):c.2563del (p.Leu855fs) rs1966853795
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter) rs746604683
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer) rs1966842803
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer) rs767633741
NM_024675.4(PALB2):c.2607dup (p.Val870fs) rs767633741
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter) rs876660678
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs) rs2142355316
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter) rs1555459999
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs) rs876660643
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs) rs730881868
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
NM_024675.4(PALB2):c.264del (p.Asp89fs)
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter) rs78179744
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter) rs45476495
NM_024675.4(PALB2):c.2686dup (p.Ser896fs) rs1555459954
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter) rs1555459949
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) rs1060502726
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter) rs587781457
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
NM_024675.4(PALB2):c.2716del (p.Trp906fs) rs1966842388
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2719del (p.Glu907fs) rs1555459934
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2728del (p.Tyr910fs) rs730881869
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter) rs1555459925
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
NM_024675.4(PALB2):c.2760dup (p.Gln921fs) rs876660147
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter) rs180177124
NM_024675.4(PALB2):c.2762del (p.Gln921fs) rs1567214484
NM_024675.4(PALB2):c.2767del (p.Val923fs)
NM_024675.4(PALB2):c.2771del (p.Pro924fs) rs2142344237
NM_024675.4(PALB2):c.2773del (p.Val925fs) rs1597082860
NM_024675.4(PALB2):c.2787_2802del (p.Val928_Tyr929insTer)
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs) rs2142343437
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
NM_024675.4(PALB2):c.2818del (p.Glu940fs) rs1555459709
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs) rs1224428422
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2838_2842del (p.Cys949fs) rs1597081571
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
NM_024675.4(PALB2):c.2850del (p.Ser951fs) rs1060499824
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter) rs1219715328
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
NM_024675.4(PALB2):c.2915del (p.Leu972fs) rs1555459553
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs) rs1966801432
NM_024675.4(PALB2):c.2931dup (p.Val978fs) rs587782570
NM_024675.4(PALB2):c.2936del (p.Ser979fs) rs1060502781
NM_024675.4(PALB2):c.2938del (p.Ser980fs) rs1555459540
NM_024675.4(PALB2):c.2953del (p.Ser985fs) rs1597081202
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs) rs1555459528
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) rs1966798806
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.298del (p.Asp101fs)
NM_024675.4(PALB2):c.2994del (p.Gly999fs)
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs) rs1597079941
NM_024675.4(PALB2):c.2999del (p.Gly1000fs) rs1966773290
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer) rs886039683
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
NM_024675.4(PALB2):c.3026del (p.Pro1009fs) rs180177131
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter) rs1966771907
NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs) rs1597079810
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter) rs2142327117
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs) rs1597079711
NM_024675.4(PALB2):c.306del (p.Pro104fs)
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
NM_024675.4(PALB2):c.3077dup (p.Leu1027fs)
NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter) rs778345761
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs) rs1567209922
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
NM_024675.4(PALB2):c.3143del (p.Lys1048fs) rs1555458822
NM_024675.4(PALB2):c.314_315del (p.Glu105fs) rs1967055393
NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter) rs1567209835
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter) rs876658157
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter) rs876658157
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) rs1021662947
NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter) rs2142298948
NM_024675.4(PALB2):c.3186del (p.Ala1063fs) rs869312774
NM_024675.4(PALB2):c.31del (p.Cys11fs)
NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs)
NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs) rs786202008
NM_024675.4(PALB2):c.3228del (p.Cys1078fs) rs1555458223
NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter) rs886039634
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs) rs879254060
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs) rs876658136
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
NM_024675.4(PALB2):c.3249_3253delinsAGCC rs1567206909
NM_024675.4(PALB2):c.3256del (p.Arg1086fs) rs1057517600
NM_024675.4(PALB2):c.3264del (p.Val1089fs)
NM_024675.4(PALB2):c.326del (p.Pro109fs) rs2142445986
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs) rs587782337
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3332del (p.Pro1111fs) rs1597066595
NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter) rs876658773
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs) rs876660574
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter) rs1597062296
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter) rs1555457878
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs) rs587776425
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter) rs879254033
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter) rs1597099523
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.3449_3455del (p.Leu1150fs)
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer) rs2142253220
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter) rs587782050
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) rs876660465
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.355del (p.Gln119fs) rs1060502760
NM_024675.4(PALB2):c.373del (p.Gln125fs)
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
NM_024675.4(PALB2):c.419dup (p.Gln141fs) rs1597099331
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter) rs886039686
NM_024675.4(PALB2):c.421del (p.Gln141fs)
NM_024675.4(PALB2):c.425del (p.Lys142fs) rs2142443741
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs) rs1555461790
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
NM_024675.4(PALB2):c.444_445del (p.Lys149fs) rs757860709
NM_024675.4(PALB2):c.444del (p.Lys149fs) rs1555461796
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter) rs587776407
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
NM_024675.4(PALB2):c.466_467del (p.Ile156fs) rs876659405
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter) rs879254197
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.4(PALB2):c.481_482del (p.Asp161fs) rs1597099149
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.500_513del (p.Asp167fs) rs876660719
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.514_517del (p.Ser172fs) rs1555461765
NM_024675.4(PALB2):c.519del (p.Arg175fs)
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs) rs1597098996
NM_024675.4(PALB2):c.523del (p.Arg175fs)
NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
NM_024675.4(PALB2):c.527_531del (p.Leu176fs) rs1597098971
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
NM_024675.4(PALB2):c.532del (p.Glu178fs) rs1567222725
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter) rs730881903
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter) rs1597098943
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter) rs864622280
NM_024675.4(PALB2):c.552del (p.Ser184fs) rs1060502738
NM_024675.4(PALB2):c.557dup (p.Asn186fs) rs1555461727
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
NM_024675.4(PALB2):c.562del (p.Ala188fs)
NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter) rs2142461082
NM_024675.4(PALB2):c.593del (p.His198fs)
NM_024675.4(PALB2):c.595del (p.Leu199fs) rs2142439618
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.601dup (p.Ser201fs) rs886041220
NM_024675.4(PALB2):c.609del (p.Lys203fs)
NM_024675.4(PALB2):c.620del (p.Pro207fs) rs1555461704
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
NM_024675.4(PALB2):c.635del (p.Pro212fs) rs1555461697
NM_024675.4(PALB2):c.646del (p.Ile216fs) rs1597098679
NM_024675.4(PALB2):c.654del (p.Asp219fs) rs587781697
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter) rs587782531
NM_024675.4(PALB2):c.674dup (p.Thr226fs) rs1967030083
NM_024675.4(PALB2):c.682del (p.Gln228fs) rs1567222523
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter) rs730881905
NM_024675.4(PALB2):c.693del (p.Gly232fs) rs875989791
NM_024675.4(PALB2):c.695del (p.Gly232fs) rs1060502769
NM_024675.4(PALB2):c.697del (p.Val233fs) rs180177090
NM_024675.4(PALB2):c.703dup (p.Thr235fs) rs1967027806
NM_024675.4(PALB2):c.707dup (p.Leu237fs) rs876658192
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter) rs779278389
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
NM_024675.4(PALB2):c.72del (p.Arg26fs) rs180177142
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs) rs749731838
NM_024675.4(PALB2):c.734del (p.Ala245fs) rs2142436112
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter) rs1248579792
NM_024675.4(PALB2):c.756dup (p.Leu253fs) rs1967023691
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
NM_024675.4(PALB2):c.759del (p.Ser254fs) rs1060499830
NM_024675.4(PALB2):c.76del (p.Arg26fs) rs1597101885
NM_024675.4(PALB2):c.770del (p.Gly257fs) rs1555461634
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) rs1555461627
NM_024675.4(PALB2):c.782_783del (p.His261fs) rs1967021173
NM_024675.4(PALB2):c.782dup (p.His261fs)
NM_024675.4(PALB2):c.786del (p.Glu263fs) rs730881870
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs) rs1555461618
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.821del (p.Thr274fs)
NM_024675.4(PALB2):c.828del (p.His276fs)
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer) rs1555461602
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.839dup (p.Asn280fs) rs1555461597
NM_024675.4(PALB2):c.841del (p.Ile281fs) rs1555461595
NM_024675.4(PALB2):c.844_847del (p.Arg282fs) rs1555461586
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
NM_024675.4(PALB2):c.854del (p.Ser285fs)
NM_024675.4(PALB2):c.860dup (p.Ser288fs) rs864622301
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter) rs1555461574
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter) rs1567222143
NM_024675.4(PALB2):c.869del (p.Glu290fs)
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter) rs753676934
NM_024675.4(PALB2):c.885_886insG (p.Met296fs) rs1597097936
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer) rs587776408
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_024675.4(PALB2):c.887del (p.Met296fs) rs2142432029
NM_024675.4(PALB2):c.892_893del (p.Val298fs) rs2142431841
NM_024675.4(PALB2):c.898del (p.Thr300fs)
NM_024675.4(PALB2):c.899del (p.Thr300fs) rs1555461558
NM_024675.4(PALB2):c.901_907del (p.Asp301fs) rs1555461551
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) rs1060502772
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
NM_024675.4(PALB2):c.948del (p.Thr317fs) rs730881871
NM_024675.4(PALB2):c.952del (p.Ser318fs)
NM_024675.4(PALB2):c.953_954del (p.Ser318fs) rs1060502800
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer) rs587776409
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
NM_024675.4(PALB2):c.976dup (p.Ser326fs) rs1555461517
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
NM_024675.4(PALB2):c.985_986del (p.Leu329fs) rs1555461514
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter) rs2142429230
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
NM_024675.4(PALB2):c.995_996del (p.Leu332fs) rs1567221851
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs) rs1555618375
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.630_637delCCCTGGCC rs1603347058
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter) rs786201808
NM_032043.3(BRIP1):c.1007_1031del (p.Asp336fs)
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter) rs2145335621
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.112dup (p.Ser38fs) rs2078951497
NM_032043.3(BRIP1):c.1138del (p.Ser380fs) rs2077985927
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1312del (p.Leu438fs) rs1064795413
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs) rs2145243883
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs) rs2145243385
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
NM_032043.3(BRIP1):c.1457del (p.Thr486fs) rs2145239498
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs) rs2145239459
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1551_1552delinsAACAGGTAC (p.Val518fs)
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
NM_032043.3(BRIP1):c.1608del (p.Leu537fs) rs2145135618
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.3(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs) rs1603334758
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs) rs1603367673
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer) rs878855140
NM_032043.3(BRIP1):c.1697del (p.Asp566fs) rs2077609777
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
NM_032043.3(BRIP1):c.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs) rs587778131
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
NM_032043.3(BRIP1):c.1758del (p.His587fs)
NM_032043.3(BRIP1):c.1759del (p.His587fs)
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.3(BRIP1):c.1801del (p.Ser601fs) rs2145081748
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
NM_032043.3(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter) rs1603367649
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter) rs1603367647
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
NM_032043.3(BRIP1):c.1936del rs1567809140
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs) rs2077537050
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs) rs1555601094
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs) rs2145029870
NM_032043.3(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs) rs1400202829
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter) rs876658270
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2109del (p.Lys703fs) rs2144701307
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter) rs1567781516
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter) rs1296238058
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
NM_032043.3(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter) rs2077030288
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs) rs587782726
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
NM_032043.3(BRIP1):c.2281del (p.Cys761fs) rs1555590521
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs) rs2144678308
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs) rs758128094
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) rs786204250
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter) rs1064795352
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter) rs2061854079
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs) rs2061478781
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs) rs1603280507
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs) rs1555574788
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2690del (p.Lys897fs) rs2061358219
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.2714del (p.Asn905fs) rs2144114210
NM_032043.3(BRIP1):c.2727dup (p.Glu910Ter)
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter) rs1603366351
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2835_2838del (p.Glu945fs)
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
NM_032043.3(BRIP1):c.2899G>T (p.Glu967Ter)
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer) rs2145828926
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
NM_032043.3(BRIP1):c.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter) rs1555617829
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter) rs786203890
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer) rs876660080
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs) rs1555616206
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.478del (p.Arg160fs) rs1555616150
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
NM_032043.3(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.3(BRIP1):c.558del (p.Val187fs)
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer) rs2078117088
NM_032043.3(BRIP1):c.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
NM_032043.3(BRIP1):c.71dup (p.Gln25fs) rs2145864140
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs) rs2078112240
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter) rs1555609257
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
NM_032043.3(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
NM_032043.3(BRIP1):c.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
NM_032043.3(BRIP1):c.875del (p.Phe292fs) rs2078107930
NM_032043.3(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs) rs878855159
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter) rs1603368491
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152
NM_032043.3(BRIP1):c.948del (p.His317fs)
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
NM_032043.3(BRIP1):c.976C>T (p.Gln326Ter)
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188

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