ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1361
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_47369496)_(47369591_?)del
NC_000002.12:g.(?_47369496)_(47379979_?)del
NC_000002.12:g.(?_47369496)_(47386623_?)del
NC_000002.12:g.(?_47369496)_(47410382_?)del
NC_000002.12:g.(?_47369496)_(47416439_?)del
NC_000002.12:g.(?_47369496)_(47426138_?)del
NC_000002.12:g.(?_47369496)_(47429951_?)del
NC_000002.12:g.(?_47369496)_(47442436_?)del
NC_000002.12:g.(?_47369496)_(47445667_?)del
NC_000002.12:g.(?_47369496)_(47471072_?)del
NC_000002.12:g.(?_47369496)_(47480881_?)del
NC_000002.12:g.(?_47369496)_(47482959_?)del
NC_000002.12:g.(?_47369500)_(47369587_?)del
NC_000002.12:g.(?_47369500)_(47379975_?)del
NC_000002.12:g.(?_47369500)_(47416435_?)del
NC_000002.12:g.(?_47369500)_(47429947_?)del
NC_000002.12:g.(?_47369500)_(47445663_?)del
NC_000002.12:g.(?_47369506)_(47369591_?)del
NC_000002.12:g.(?_47369506)_(47386613_?)del
NC_000002.12:g.(?_47369506)_(47403412_?)del
NC_000002.12:g.(?_47369506)_(47416439_?)del
NC_000002.12:g.(?_47369506)_(47429951_?)del
NC_000002.12:g.(?_47373453)_(47379979_?)del
NC_000002.12:g.(?_47373453)_(47416439_?)del
NC_000002.12:g.(?_47373453)_(47445667_?)del
NC_000002.12:g.(?_47373457)_(47379975_?)del
NC_000002.12:g.(?_47373457)_(47386619_?)del
NC_000002.12:g.(?_47373463)_(47377077_?)del
NC_000002.12:g.(?_47375224)_(47377087_?)del
NC_000002.12:g.(?_47377004)_(47377087_?)del
NC_000002.12:g.(?_47377004)_(47386623_?)del
NC_000002.12:g.(?_47377004)_(47403412_?)del
NC_000002.12:g.(?_47377004)_(47410382_?)del
NC_000002.12:g.(?_47377004)_(47429951_?)del
NC_000002.12:g.(?_47377008)_(47386619_?)del
NC_000002.12:g.(?_47377008)_(47410378_?)del
NC_000002.12:g.(?_47378939)_(47386613_?)del
NC_000002.12:g.(?_47378943)_(47416439_?)del
NC_000002.12:g.(?_47385055)_(47391097_?)del
NC_000002.12:g.(?_47385156)_(47386613_?)del
NC_000002.12:g.(?_47385156)_(47386623_?)del
NC_000002.12:g.(?_47385156)_(47403412_?)del
NC_000002.12:g.(?_47385160)_(47403408_?)del
NC_000002.12:g.(?_47385160)_(47482955_?)del
NC_000002.12:g.(?_47403011)_(47403412_?)del
NC_000002.12:g.(?_47403011)_(47414428_?)del
NC_000002.12:g.(?_47403011)_(47416439_?)del
NC_000002.12:g.(?_47403011)_(47482981_?)del
NC_000002.12:g.(?_47403113)_(47416439_?)del
NC_000002.12:g.(?_47403113)_(47429951_?)del
NC_000002.12:g.(?_47403182)_(47403412_?)del
NC_000002.12:g.(?_47403182)_(47405445_?)del
NC_000002.12:g.(?_47403182)_(47408565_?)del
NC_000002.12:g.(?_47403182)_(47410382_?)del
NC_000002.12:g.(?_47403182)_(47414428_?)del
NC_000002.12:g.(?_47403182)_(47416439_?)del
NC_000002.12:g.(?_47403182)_(47429951_?)del
NC_000002.12:g.(?_47403182)_(47482959_?)del
NC_000002.12:g.(?_47403186)_(47410378_?)del
NC_000002.12:g.(?_47403186)_(47429947_?)del
NC_000002.12:g.(?_47403192)_(47408555_?)del
NC_000002.12:g.(?_47408391)_(47412570_?)del
NC_000002.12:g.(?_47408395)_(47414424_?)del
NC_000002.12:g.(?_47408395)_(47429947_?)del
NC_000002.12:g.(?_47410084)_(47412570_?)del
NC_000002.12:g.(?_47410084)_(47414428_?)del
NC_000002.12:g.(?_47410084)_(47429951_?)del
NC_000002.12:g.(?_47410084)_(47482959_?)del
NC_000002.12:g.(?_47410088)_(47412566_?)del
NC_000002.12:g.(?_47412404)_(47414428_?)del
NC_000002.12:g.(?_47412404)_(47416439_?)del
NC_000002.12:g.(?_47412404)_(47429951_?)del
NC_000002.12:g.(?_47412404)_(47482981_?)del
NC_000002.12:g.(?_47414259)_(47414428_?)del
NC_000002.12:g.(?_47416286)_(47416439_?)del
NC_000002.12:g.(?_47425835)_(47471072_?)del
NC_000002.12:g.(?_47429732)_(47445667_?)del
NC_000002.12:g.(?_47429736)_(47445663_?)del
NC_000002.12:g.(?_47442337)_(47445667_?)dup
NC_000002.12:g.(?_47442337)_(47482959_?)del
NC_000002.12:g.(?_47445538)_(47482959_?)del
NC_000002.12:g.(?_47463021)_(47471072_?)del
NC_000002.12:g.(?_47463021)_(47475280_?)del
NC_000002.12:g.(?_47463021)_(47482959_?)del
NC_000002.12:g.(?_47463025)_(47475276_?)del
NC_000002.12:g.(?_47466648)_(47466818_?)del
NC_000002.12:g.(?_47470955)_(47482981_?)del
NC_000002.12:g.(?_47470959)_(47482955_?)del
NC_000002.12:g.(?_47475015)_(47480881_?)del
NC_000002.12:g.(?_47475015)_(47482959_?)del
NC_000002.12:g.(?_47475019)_(47480877_?)del
NC_000002.12:g.(?_47478262)_(47478529_?)del
NC_000002.12:g.(?_47478262)_(47480881_?)del
NC_000002.12:g.(?_47478262)_(47482959_?)del
NC_000002.12:g.(?_47478262)_(47482981_?)del
NC_000002.12:g.(?_47478266)_(47478525_?)del
NC_000002.12:g.(?_47478266)_(47482955_?)del
NC_000002.12:g.(?_47482769)_(47482959_?)del
NC_000002.12:g.(?_47482769)_(47482981_?)del
NC_000002.12:g.(?_47783224)_(47783503_?)del
NC_000002.12:g.(?_47783224)_(47791133_?)del
NC_000002.12:g.(?_47783224)_(47805037_?)del
NC_000002.12:g.(?_47783224)_(47806870_?)del
NC_000002.12:g.(?_47783228)_(47783499_?)del
NC_000002.12:g.(?_47783228)_(47791129_?)del
NC_000002.12:g.(?_47783228)_(47805033_?)del
NC_000002.12:g.(?_47783228)_(47806866_?)del
NC_000002.12:g.(?_47783234)_(47783503_?)del
NC_000002.12:g.(?_47783234)_(47791133_?)del
NC_000002.12:g.(?_47790917)_(47791133_?)del
NC_000002.12:g.(?_47790917)_(47801165_?)del
NC_000002.12:g.(?_47790917)_(47805037_?)del
NC_000002.12:g.(?_47795884)_(47796073_?)del
NC_000002.12:g.(?_47795888)_(47803691_?)del
NC_000002.12:g.(?_47798601)_(47801165_?)del
NC_000002.12:g.(?_47801962)_(47806306_?)del
NC_000002.12:g.(?_47803398)_(47805474_?)del
NC_000002.12:g.(?_47803410)_(47803695_?)del
NC_000002.12:g.(?_47803410)_(47805037_?)del
NC_000002.12:g.(?_47803414)_(47803691_?)del
NC_000002.12:g.(?_47804900)_(47805717_?)del
NC_000002.12:g.(?_47804904)_(47805713_?)del
NC_000002.12:g.47416297del
NC_000002.12:g.47803429_47807697del
NC_000003.11:g.(?_37034542)_(37050402_?)del
NC_000003.11:g.(?_37038104)_(37092150_?)del
NC_000003.12:g.(?_36993031)_(37050673_?)del
NC_000003.12:g.(?_36993051)_(36996719_?)del
NC_000003.12:g.(?_36993051)_(37004480_?)del
NC_000003.12:g.(?_36993051)_(37008915_?)del
NC_000003.12:g.(?_36993051)_(37012109_?)del
NC_000003.12:g.(?_36993051)_(37017605_?)del
NC_000003.12:g.(?_36993051)_(37028942_?)del
NC_000003.12:g.(?_36993051)_(37050653_?)del
NC_000003.12:g.(?_36993051)_(37050659_?)del
NC_000003.12:g.(?_36993051)_(37050663_?)del
NC_000003.12:g.(?_36996608)_(37001063_?)del
NC_000003.12:g.(?_36996608)_(37050653_?)del
NC_000003.12:g.(?_36996609)_(37001063_?)del
NC_000003.12:g.(?_36996609)_(37017609_?)del
NC_000003.12:g.(?_36996609)_(37050663_?)del
NC_000003.12:g.(?_37004391)_(37014554_?)del
NC_000003.12:g.(?_37006981)_(37007073_?)del
NC_000003.12:g.(?_37006981)_(37042341_?)del
NC_000003.12:g.(?_37008800)_(37012109_?)del
NC_000003.12:g.(?_37008800)_(37026017_?)del
NC_000003.12:g.(?_37008804)_(37012109_?)del
NC_000003.12:g.(?_37011810)_(37014554_?)del
NC_000003.12:g.(?_37014422)_(37014554_?)del
NC_000003.12:g.(?_37014426)_(37028938_?)del
NC_000003.12:g.(?_37017496)_(37017609_?)del
NC_000003.12:g.(?_37020300)_(37050663_?)del
NC_000003.12:g.(?_37040176)_(37042341_?)del
NC_000003.12:g.(?_37040176)_(37050653_?)del
NC_000003.12:g.(?_37040176)_(37050663_?)del
NC_000003.12:g.(?_37040180)_(37050659_?)del
NC_000003.12:g.(?_37047509)_(37047693_?)del
NC_000003.12:g.(?_37047509)_(37050653_?)del
NC_000003.12:g.(?_37047509)_(37050663_?)del
NC_000003.12:g.(?_37047513)_(37047689_?)del
NC_000003.12:g.(?_37048507)_(37049027_?)del
NC_000003.12:g.(?_37048507)_(37050653_?)del
NC_000003.12:g.(?_37048507)_(37050663_?)del
NC_000003.12:g.(?_37050480)_(37050659_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)del
NC_000007.14:g.(?_5972239)_(6010106_?)del
NC_000007.14:g.(?_5973389)_(5973552_?)del
NC_000007.14:g.(?_5973389)_(5983001_?)del
NC_000007.14:g.(?_5973393)_(5973548_?)del
NC_000007.14:g.(?_5973393)_(5982997_?)del
NC_000007.14:g.(?_5973399)_(5973552_?)del
NC_000007.14:g.(?_5973399)_(5983001_?)del
NC_000007.14:g.(?_5977578)_(5977767_?)del
NC_000007.14:g.(?_5977578)_(5978706_?)del
NC_000007.14:g.(?_5977578)_(5983001_?)del
NC_000007.14:g.(?_5977582)_(5977763_?)del
NC_000007.14:g.(?_5977582)_(5978702_?)del
NC_000007.14:g.(?_5977582)_(5982997_?)del
NC_000007.14:g.(?_5978586)_(5978706_?)del
NC_000007.14:g.(?_5986749)_(5987630_?)del
NC_000007.14:g.(?_5986749)_(5989965_?)del
NC_000007.14:g.(?_5986749)_(5992067_?)del
NC_000007.14:g.(?_5986749)_(5995643_?)del
NC_000007.14:g.(?_5986749)_(5997433_?)del
NC_000007.14:g.(?_5986749)_(6009029_?)del
NC_000007.14:g.(?_5986749)_(6009116_?)del
NC_000007.14:g.(?_5986749)_(6009468_?)del
NC_000007.14:g.(?_5986753)_(5992063_?)del
NC_000007.14:g.(?_5986753)_(5997429_?)del
NC_000007.14:g.(?_5986753)_(6002642_?)del
NC_000007.14:g.(?_5986753)_(6009025_?)del
NC_000007.14:g.(?_5989790)_(5989965_?)del
NC_000007.14:g.(?_5989790)_(5992067_?)del
NC_000007.14:g.(?_5989790)_(5995643_?)del
NC_000007.14:g.(?_5989790)_(6009029_?)del
NC_000007.14:g.(?_5991963)_(5992067_?)del
NC_000007.14:g.(?_5991963)_(5999285_?)del
NC_000007.14:g.(?_5991963)_(6002646_?)del
NC_000007.14:g.(?_5991963)_(6006041_?)del
NC_000007.14:g.(?_5991963)_(6009029_?)del
NC_000007.14:g.(?_5991967)_(5997429_?)del
NC_000007.14:g.(?_5995524)_(5995643_?)del
NC_000007.14:g.(?_5995524)_(5997433_?)del
NC_000007.14:g.(?_5995524)_(5999285_?)del
NC_000007.14:g.(?_5995528)_(5995639_?)del
NC_000007.14:g.(?_5997316)_(5997433_?)del
NC_000007.14:g.(?_5997316)_(5999285_?)del
NC_000007.14:g.(?_5997316)_(6004068_?)del
NC_000007.14:g.(?_5997316)_(6006041_?)del
NC_000007.14:g.(?_5999098)_(6006041_?)del
NC_000007.14:g.(?_5999102)_(6009025_?)del
NC_000007.14:g.(?_6002443)_(6004068_?)del
NC_000007.14:g.(?_6002447)_(6004064_?)del
NC_000007.14:g.(?_6003680)_(6004068_?)del
NC_000007.14:g.(?_6005882)_(6006041_?)del
NC_000007.14:g.(?_6005886)_(6006037_?)del
NC_000007.14:g.(?_6008925)_(6009468_?)del
NC_000007.14:g.(?_6008987)_(6009029_?)del
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.1012A>T (p.Arg338Ter) rs1114167804
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.103_113del (p.Ala35fs) rs1572698011
NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.2(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer) rs1553412502
NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs) rs786204252
NM_000179.2(MSH6):c.1134_1135del (p.Arg379_Asp380insTer) rs876660549
NM_000179.2(MSH6):c.1223del (p.Pro408fs) rs1553412649
NM_000179.2(MSH6):c.1238G>A (p.Trp413Ter) rs786201049
NM_000179.2(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.2(MSH6):c.1243C>T (p.Gln415Ter) rs1114167756
NM_000179.2(MSH6):c.1281C>G (p.Tyr427Ter) rs1553412720
NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1299del (p.Phe432_Tyr433insTer) rs1553412735
NM_000179.2(MSH6):c.1308C>G (p.Tyr436Ter) rs761037236
NM_000179.2(MSH6):c.1323_1324insCAAA (p.Ile442fs) rs1558661368
NM_000179.2(MSH6):c.1326del (p.Ile442fs) rs1558661380
NM_000179.2(MSH6):c.1328dup (p.Val444fs) rs1553412755
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter) rs864622435
NM_000179.2(MSH6):c.1423C>T (p.Gln475Ter) rs1553412835
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1490_1491del (p.Arg497fs) rs863225400
NM_000179.2(MSH6):c.1515T>A (p.Tyr505Ter) rs878853704
NM_000179.2(MSH6):c.1515T>G (p.Tyr505Ter) rs878853704
NM_000179.2(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.2(MSH6):c.1569_1570del (p.Tyr524fs) rs1553412960
NM_000179.2(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) rs1114167702
NM_000179.2(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.2(MSH6):c.164_177del (p.Pro55fs) rs1558645195
NM_000179.2(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1691C>G (p.Ser564Ter) rs864622153
NM_000179.2(MSH6):c.1700dup (p.Phe568fs) rs1553413074
NM_000179.2(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.2(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.2(MSH6):c.1738del (p.Ser580fs) rs1553413116
NM_000179.2(MSH6):c.1767T>A (p.Tyr589Ter) rs1558662873
NM_000179.2(MSH6):c.1789G>T (p.Glu597Ter) rs1553413178
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.2(MSH6):c.1835C>G (p.Ser612Ter) rs63750564
NM_000179.2(MSH6):c.1876C>T (p.Gln626Ter) rs1553413253
NM_000179.2(MSH6):c.1901T>A (p.Leu634Ter) rs63751097
NM_000179.2(MSH6):c.1901dup (p.Leu634fs) rs587782638
NM_000179.2(MSH6):c.1912del (p.Glu639fs) rs1553413294
NM_000179.2(MSH6):c.1923del (p.Glu641fs) rs869040863
NM_000179.2(MSH6):c.1933G>T (p.Glu645Ter) rs1064795591
NM_000179.2(MSH6):c.1969C>T (p.Gln657Ter) rs1114167709
NM_000179.2(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer) rs1060502918
NM_000179.2(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.2(MSH6):c.2050del (p.Ala683_Leu684insTer) rs1553413424
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2089del (p.Asp697fs) rs863224475
NM_000179.2(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter) rs63751442
NM_000179.2(MSH6):c.220G>T (p.Gly74Ter) rs1553408388
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2238dup (p.Leu747fs) rs1553413599
NM_000179.2(MSH6):c.2260dup (p.Thr754fs) rs1553413640
NM_000179.2(MSH6):c.2269_2270del (p.Thr757fs) rs876661025
NM_000179.2(MSH6):c.2277_2281dup (p.Arg761fs) rs1572726468
NM_000179.2(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.2(MSH6):c.2351_2352del (p.Asn784fs) rs1553413717
NM_000179.2(MSH6):c.2371_2372insAGAC (p.Arg791fs) rs1553413732
NM_000179.2(MSH6):c.2386G>T (p.Glu796Ter) rs1558665297
NM_000179.2(MSH6):c.2419dup (p.Glu807fs) rs1553413784
NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.2(MSH6):c.2521del (p.Arg841fs) rs1114167771
NM_000179.2(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.2(MSH6):c.261-1G>C rs863225402
NM_000179.2(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer) rs876660630
NM_000179.2(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2693del (p.Pro898fs) rs1553414022
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2735G>A (p.Trp912Ter) rs1060502876
NM_000179.2(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.2(MSH6):c.2748dup (p.Asp917Ter) rs1553414102
NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.2(MSH6):c.2779dup (p.Ile927fs) rs587782277
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.2(MSH6):c.2913dup (p.Ile972fs) rs1054003194
NM_000179.2(MSH6):c.2920del (p.Arg974fs) rs1558667222
NM_000179.2(MSH6):c.2931C>A (p.Tyr977Ter) rs63750111
NM_000179.2(MSH6):c.2982C>G (p.Tyr994Ter) rs367758473
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.2989A>T (p.Lys997Ter) rs1064794943
NM_000179.2(MSH6):c.2991del (p.Lys997fs) rs1060502890
NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.2(MSH6):c.3018C>G (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3021G>A (p.Trp1007Ter) rs587779253
NM_000179.2(MSH6):c.3064G>T (p.Glu1022Ter) rs1114167724
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3083C>G (p.Ser1028Ter) rs876660853
NM_000179.2(MSH6):c.3089_3092del (p.Lys1030fs) rs1553414488
NM_000179.2(MSH6):c.3097_3100del (p.Met1033fs) rs1553414498
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3109_3112del (p.Phe1037fs) rs1558668156
NM_000179.2(MSH6):c.3137_3138del (p.Asp1046fs) rs1558668258
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3159T>A (p.Cys1053Ter) rs767021188
NM_000179.2(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.2(MSH6):c.3172+1G>T rs587779255
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3238del (p.Leu1080fs) rs1553331337
NM_000179.2(MSH6):c.3252dup (p.Thr1085fs) rs1553331366
NM_000179.2(MSH6):c.3253del (p.Thr1085fs) rs1060502891
NM_000179.2(MSH6):c.3253dup (p.Thr1085fs) rs1114167705
NM_000179.2(MSH6):c.3276dup (p.Gly1093fs) rs1558387361
NM_000179.2(MSH6):c.3281dup (p.Arg1095fs) rs1553331454
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3371del (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3383_3384dup (p.Cys1129fs) rs1572735943
NM_000179.2(MSH6):c.3398del (p.Thr1133fs) rs1553331722
NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3443del (p.Gly1148fs) rs1553332151
NM_000179.2(MSH6):c.3449T>A (p.Leu1150Ter) rs1057517763
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267
NM_000179.2(MSH6):c.3491dup (p.Cys1165fs) rs876661073
NM_000179.2(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer) rs1324100572
NM_000179.2(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327
NM_000179.2(MSH6):c.3522_3524delinsAT (p.Phe1174fs) rs1572738865
NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) rs786203968
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer) rs1553332312
NM_000179.2(MSH6):c.3556+1G>A rs1060502926
NM_000179.2(MSH6):c.3556+1G>T rs1060502926
NM_000179.2(MSH6):c.3562del (p.Ser1188fs) rs1553332622
NM_000179.2(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.2(MSH6):c.3577_3580dup (p.Leu1194Ter) rs773262801
NM_000179.2(MSH6):c.3577_3581del (p.Glu1193fs) rs1060502881
NM_000179.2(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.2(MSH6):c.3647-1G>A rs587779279
NM_000179.2(MSH6):c.3647delG rs1064795629
NM_000179.2(MSH6):c.3660_3663dup (p.Phe1222fs) rs752404604
NM_000179.2(MSH6):c.3696dup (p.Lys1233Ter) rs1553333017
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.2(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000179.2(MSH6):c.3735_3769del (p.Thr1247fs) rs1558392228
NM_000179.2(MSH6):c.3738_3759inv (p.His1248_Ser1251delinsAsnGluTrpTer)
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.2(MSH6):c.3775_3776del (p.Asn1259fs) rs1572745157
NM_000179.2(MSH6):c.377C>G (p.Ser126Ter) rs1114167689
NM_000179.2(MSH6):c.3793G>T (p.Gly1265Ter) rs754469538
NM_000179.2(MSH6):c.3808_3824dup (p.Cys1275Ter) rs1558393006
NM_000179.2(MSH6):c.3809_3812dup (p.Glu1272fs) rs1553333301
NM_000179.2(MSH6):c.3811_3824del (p.Met1270_Val1271insTer) rs1558393006
NM_000179.2(MSH6):c.3813dup (p.Glu1272fs) rs1553333310
NM_000179.2(MSH6):c.3814_3827dup (p.Asp1277fs) rs1558393070
NM_000179.2(MSH6):c.3818dup (p.Asn1273fs) rs1553333321
NM_000179.2(MSH6):c.3827_3830dup (p.Asp1277fs) rs1060502903
NM_000179.2(MSH6):c.3830_3833del (p.Asp1277fs) rs1572746365
NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.2(MSH6):c.3846_3849dup (p.Thr1284fs) rs1114167783
NM_000179.2(MSH6):c.3846dup (p.Ile1283fs) rs866771359
NM_000179.2(MSH6):c.3847_3851delinsTA (p.Ile1283_Thr1284delinsTer) rs1572746634
NM_000179.2(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer) rs1553333449
NM_000179.2(MSH6):c.3880_3892del (p.Cys1294fs) rs1553333497
NM_000179.2(MSH6):c.3882del (p.Pro1295fs) rs876658817
NM_000179.2(MSH6):c.3893dup (p.Tyr1298Ter) rs1553333530
NM_000179.2(MSH6):c.3897_3931dup (p.Glu1311fs) rs1064793895
NM_000179.2(MSH6):c.3922_3944dup (p.Lys1315fs) rs1553333599
NM_000179.2(MSH6):c.3926_3927insGAGA (p.Glu1310fs) rs1553333605
NM_000179.2(MSH6):c.3930_3970dup (p.Glu1324fs) rs878853742
NM_000179.2(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer) rs1558394104
NM_000179.2(MSH6):c.3931del (p.Glu1311fs) rs1558394093
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319fs) rs1553333644
NM_000179.2(MSH6):c.3936_3951del (p.Ile1313fs) rs1553333635
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3939dup (p.Gln1314fs) rs1553333633
NM_000179.2(MSH6):c.3946_3958del (p.Gly1316fs) rs1553333674
NM_000179.2(MSH6):c.394C>T (p.Gln132Ter) rs587782101
NM_000179.2(MSH6):c.3956_3957dup (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3956_3974del (p.Lys1319fs) rs1558394336
NM_000179.2(MSH6):c.3957del (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3972_3979del (p.Lys1325fs) rs1572747837
NM_000179.2(MSH6):c.461C>G (p.Ser154Ter) rs1553411391
NM_000179.2(MSH6):c.463A>T (p.Lys155Ter) rs1276159036
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000179.2(MSH6):c.468_471del (p.Glu158fs) rs587779941
NM_000179.2(MSH6):c.478C>T (p.Gln160Ter) rs1114167692
NM_000179.2(MSH6):c.517_520del (p.Leu173fs) rs1553411419
NM_000179.2(MSH6):c.565A>T (p.Lys189Ter) rs786203597
NM_000179.2(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.2(MSH6):c.58dup (p.Ala20fs) rs1553408136
NM_000179.2(MSH6):c.599C>G (p.Ser200Ter) rs63751077
NM_000179.2(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.2(MSH6):c.742del (p.Arg248fs) rs587781691
NM_000179.2(MSH6):c.850_851insC (p.Asp284fs) rs1572720562
NM_000179.2(MSH6):c.908dup (p.Met303fs) rs1057517551
NM_000179.2(MSH6):c.973C>T (p.Gln325Ter) rs1553412397
NM_000179.2(MSH6):c.988dup (p.Ser330fs) rs1553412409
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1145del (p.His382fs)
NM_000179.3(MSH6):c.1188_1207del (p.Tyr397fs)
NM_000179.3(MSH6):c.1222_1226del (p.Pro408fs)
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter) rs778555956
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter) rs1572722737
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.1503dup (p.Ile502fs)
NM_000179.3(MSH6):c.1512del (p.Lys504fs) rs1572723270
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter) rs1572723640
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
NM_000179.3(MSH6):c.1630dup (p.Glu544fs)
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1675_1676dup (p.Phe560fs)
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
NM_000179.3(MSH6):c.1767del rs1114167765
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.3(MSH6):c.1819del (p.Thr607fs) rs587779221
NM_000179.3(MSH6):c.1835del (p.Ser612fs)
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs) rs1558663954
NM_000179.3(MSH6):c.2041del (p.Leu681fs) rs1572725436
NM_000179.3(MSH6):c.2079delA rs267608083
NM_000179.3(MSH6):c.2118del (p.Phe706fs) rs1572725803
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter) rs745483465
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer) rs1572726309
NM_000179.3(MSH6):c.2265del (p.Gly756fs)
NM_000179.3(MSH6):c.2344_2345CT[1] (p.Leu782_Cys783insTer)
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.246dup (p.Ala83fs)
NM_000179.3(MSH6):c.2473del (p.Ile825fs)
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440
NM_000179.3(MSH6):c.2552_2607del (p.Ser851fs)
NM_000179.3(MSH6):c.2602dup (p.Met868fs) rs1572727797
NM_000179.3(MSH6):c.2603del (p.Met868fs)
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
NM_000179.3(MSH6):c.2662_2663del (p.Lys888fs)
NM_000179.3(MSH6):c.2673_2674CT[2] (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
NM_000179.3(MSH6):c.2759dup (p.Ala921fs) rs1114167794
NM_000179.3(MSH6):c.2802_2803CT[1] (p.Asp934_Ser935insTer) rs878853721
NM_000179.3(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.2873del (p.Gln958fs) rs1572729033
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3078dup (p.Val1027fs) rs1572730002
NM_000179.3(MSH6):c.3091dup (p.Asp1031fs) rs1572730065
NM_000179.3(MSH6):c.313del (p.Trp105fs) rs1572708636
NM_000179.3(MSH6):c.3172+2T>G
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3202C>T rs63749843
NM_000179.3(MSH6):c.3209del (p.Gly1070fs) rs1315445200
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs) rs1572735072
NM_000179.3(MSH6):c.3261del rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3338_3342dup (p.Ile1115delinsPheTer)
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
NM_000179.3(MSH6):c.3416dup rs587781544
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3510_3511insTAA (p.Asp1171Ter)
NM_000179.3(MSH6):c.354_355del (p.Phe119fs)
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter) rs1572739043
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3655_3658delinsCC (p.Thr1219fs)
NM_000179.3(MSH6):c.3693_3694insTA (p.Val1232Ter)
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs)
NM_000179.3(MSH6):c.3724_3726del rs63749942
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3766del (p.Tyr1256fs)
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs) rs1572746382
NM_000179.3(MSH6):c.3863_3865dup (p.Phe1289Ter)
NM_000179.3(MSH6):c.3910dup (p.Arg1304fs)
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
NM_000179.3(MSH6):c.3964G>T rs1553333707
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs) rs886044911
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.498C>G (p.Tyr166Ter)
NM_000179.3(MSH6):c.524del (p.Ala175fs)
NM_000179.3(MSH6):c.529dup (p.Gln177fs)
NM_000179.3(MSH6):c.564dup (p.Lys189Ter) rs1572716371
NM_000179.3(MSH6):c.644dup (p.Thr216fs) rs1572719776
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
NM_000179.3(MSH6):c.688del (p.Glu230fs)
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
NM_000179.3(MSH6):c.885dup (p.Val296fs) rs1572720704
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter) rs1572720794
NM_000179.3(MSH6):c.97del (p.Arg33fs)
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1039-2A>C rs267607815
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.117-1G>A
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1279C>T (p.Gln427Ter) rs1559553501
NM_000249.3(MLH1):c.1297G>T (p.Glu433Ter) rs63750443
NM_000249.3(MLH1):c.1315G>T (p.Glu439Ter) rs1302248679
NM_000249.3(MLH1):c.1333C>T (p.Gln445Ter) rs1575537843
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.3(MLH1):c.143A>C (p.Gln48Pro) rs587778914
NM_000249.3(MLH1):c.1447del (p.Glu483fs) rs1553652930
NM_000249.3(MLH1):c.1456dup (p.Ser486fs) rs878853778
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1489_1490insCG (p.Arg497fs) rs1553653037
NM_000249.3(MLH1):c.1522_1523del (p.Leu509fs) rs876658821
NM_000249.3(MLH1):c.1526del (p.Leu509fs) rs1553653158
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1546C>T (p.Gln516Ter) rs1553653195
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1559-1G>A rs267607837
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) rs63751244
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.3(MLH1):c.1721T>C (p.Leu574Pro) rs63751608
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-2A>C rs267607852
NM_000249.3(MLH1):c.1746del (p.Phe583fs) rs876659068
NM_000249.3(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs) rs1553662800
NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.1818delinsCTT (p.Leu607fs) rs1575621386
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1890dup (p.Asp631Ter) rs786201990
NM_000249.3(MLH1):c.1896+1G>A rs267607867
NM_000249.3(MLH1):c.1896+1G>T rs267607867
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1907_1920del (p.Leu636fs) rs1553663750
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.3(MLH1):c.1956_1957del (p.Leu653fs) rs1553663981
NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.1990-1G>C rs267607884
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1997G>A (p.Trp666Ter) rs886039424
NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.201dup (p.Ile68fs) rs587778968
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.3(MLH1):c.207+2T>G rs267607722
NM_000249.3(MLH1):c.2070C>A (p.Tyr690Ter) rs550890395
NM_000249.3(MLH1):c.2070C>G (p.Tyr690Ter) rs550890395
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.209_215delAAGAAGA rs730881734
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.3(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer) rs1553665683
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2190del (p.Pro731fs) rs587780683
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2206G>T (p.Glu736Ter) rs876659608
NM_000249.3(MLH1):c.2212G>T (p.Gly738Ter) rs1553665866
NM_000249.3(MLH1):c.2215_2218dup (p.Ile740fs) rs1575640892
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter) rs878853787
NM_000249.3(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.320T>A (p.Ile107Lys) rs63750507
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.378C>G (p.Tyr126Ter) rs63751606
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.380+2T>A rs267607742
NM_000249.3(MLH1):c.381-1G>A rs267607744
NM_000249.3(MLH1):c.381-2A>G rs267607743
NM_000249.3(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.3(MLH1):c.390C>G (p.Tyr130Ter) rs1060500689
NM_000249.3(MLH1):c.393_396del (p.Asp132fs) rs1559521039
NM_000249.3(MLH1):c.404dup (p.Lys136fs) rs1553642079
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.453+1G>C rs267607750
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.469dup (p.Tyr157fs) rs63751101
NM_000249.3(MLH1):c.532G>T (p.Glu178Ter) rs1248251121
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.551C>G (p.Ser184Ter) rs1064796057
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.589-1G>T rs587779027
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>A rs267607778
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67dup (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.706_725del (p.Lys236fs) rs863224480
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.735C>A (p.Tyr245Ter) rs1553645226
NM_000249.3(MLH1):c.768C>A (p.Cys256Ter) rs1575481212
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dup rs267607791
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.815T>A (p.Leu272Ter) rs63750584
NM_000249.3(MLH1):c.833_834dup (p.Val279fs) rs1553646681
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058
NM_000249.3(MLH1):c.971dup (p.Arg325fs) rs587781554
NM_000249.3(MLH1):c.979C>T (p.Gln327Ter) rs587782087
NM_000249.3(MLH1):c.997_1000del (p.Lys333fs) rs1553648149
NM_000249.3(MLH1):c.9_21del (p.Phe3fs) rs1064795341
NM_000249.4(MLH1):c.1021_1022insCCCT (p.Arg341fs)
NM_000249.4(MLH1):c.1029C>A (p.Tyr343Ter)
NM_000249.4(MLH1):c.111del (p.Asn38fs)
NM_000249.4(MLH1):c.1132del (p.Val378fs)
NM_000249.4(MLH1):c.1144del (p.Gln382fs)
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
NM_000249.4(MLH1):c.1193del (p.Gln398fs)
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1478del (p.Ala493fs)
NM_000249.4(MLH1):c.1568dup (p.Met524fs)
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1676del (p.Leu559fs)
NM_000249.4(MLH1):c.1840_1870dup (p.Asp624delinsValSerGluGluGluGlyTer)
NM_000249.4(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.19del (p.Val7fs)
NM_000249.4(MLH1):c.2009dup (p.Glu671fs) rs63750740
NM_000249.4(MLH1):c.2030dup (p.Ser677fs)
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.4(MLH1):c.2261_2262AG[1] (p.Arg755fs) rs1559597322
NM_000249.4(MLH1):c.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer) rs1575414321
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.381-2A>T
NM_000249.4(MLH1):c.393del (p.Asp132fs)
NM_000249.4(MLH1):c.460del (p.Asp154fs) rs1575448385
NM_000249.4(MLH1):c.463del (p.Leu155fs)
NM_000249.4(MLH1):c.509del (p.Ser170fs)
NM_000249.4(MLH1):c.545+2T>C rs1575449402
NM_000249.4(MLH1):c.546-2A>T
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
NM_000249.4(MLH1):c.589-1G>A
NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer) rs1575469070
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.678-20_693del
NM_000249.4(MLH1):c.68_72delinsCTA (p.Glu23fs)
NM_000249.4(MLH1):c.72_82dup (p.Pro28fs)
NM_000249.4(MLH1):c.756dup (p.Val253fs)
NM_000249.4(MLH1):c.77del (p.Gln26fs) rs1575376830
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000251.2(MSH2):c.1007dup (p.Gln337fs) rs587779064
NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.2(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter) rs63751027
NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.2(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1077A>T (p.Arg359Ser) rs63751617
NM_000251.2(MSH2):c.1111G>T (p.Glu371Ter) rs1060501994
NM_000251.2(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.2(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.2(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.2(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.2(MSH2):c.1201_1204del (p.Leu401fs) rs1558478567
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.2(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1219_1220CT[1] (p.Tyr408fs) rs587779076
NM_000251.2(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.2(MSH2):c.1247_1257dup (p.Ala420fs) rs1553356720
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.2(MSH2):c.1285del (p.Gln429fs) rs1114167833
NM_000251.2(MSH2):c.1293dup (p.Leu432fs) rs1553361162
NM_000251.2(MSH2):c.1308dup (p.Val437fs) rs1060502035
NM_000251.2(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.2(MSH2):c.1344del (p.Lys449fs) rs876658918
NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.2(MSH2):c.1354G>T (p.Glu452Ter) rs267607954
NM_000251.2(MSH2):c.1373del (p.Thr457_Leu458insTer) rs1553361289
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1396del (p.His466fs) rs1558508067
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1408del (p.Leu469_Val470insTer) rs63750384
NM_000251.2(MSH2):c.1413del (p.Lys471fs) rs1553365719
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1478del (p.Gln493fs) rs1553365799
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1491_1492insTT (p.Ser498fs) rs1558508343
NM_000251.2(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.2(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.2(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.2(MSH2):c.1565_1568del (p.Tyr522fs) rs1064793561
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1576del (p.Thr526fs) rs63750094
NM_000251.2(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.2(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1687dup (p.Tyr563fs) rs587779103
NM_000251.2(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.2(MSH2):c.1702dup (p.Thr568fs) rs587779105
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+2T>A rs267607976
NM_000251.2(MSH2):c.1771_1772insA (p.Pro591fs) rs267607977
NM_000251.2(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.2(MSH2):c.1796del (p.Val598_Leu599insTer) rs1060502039
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1801_1805del (p.Gln601fs) rs1573566488
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.182del (p.Gln61fs) rs1553348882
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.1857T>G (p.Tyr619Ter) rs63750312
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.1885C>T (p.Gln629Ter) rs63750203
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.192dup (p.Lys65fs) rs1553348896
NM_000251.2(MSH2):c.1933C>T (p.Gln645Ter) rs267607982
NM_000251.2(MSH2):c.1939G>T (p.Glu647Ter) rs63750078
NM_000251.2(MSH2):c.193_194insTC (p.Lys65fs) rs1553348898
NM_000251.2(MSH2):c.1968C>A (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1968C>G (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1968del (p.Phe657fs) rs1114167805
NM_000251.2(MSH2):c.198C>A (p.Tyr66Ter) rs730881784
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2010del (p.Asn671fs) rs63751123
NM_000251.2(MSH2):c.2027C>G (p.Ser676Ter) rs1057520735
NM_000251.2(MSH2):c.2034T>A (p.Tyr678Ter) rs1558519611
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2045_2047delinsTT (p.Thr682fs) rs1553369034
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.206del (p.Pro69fs) rs1553348904
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.2(MSH2):c.2085dup (p.Pro696fs) rs1553369100
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.2116del (p.Asp706fs) rs1553369131
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.2(MSH2):c.2145del (p.Asp716fs) rs1553369164
NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) rs1060502032
NM_000251.2(MSH2):c.217A>T (p.Lys73Ter) rs770110491
NM_000251.2(MSH2):c.2204del (p.Ile735fs) rs63750572
NM_000251.2(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2236dup (p.Ile746fs) rs863225392
NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.2(MSH2):c.2275G>T (p.Gly759Ter) rs63749854
NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
NM_000251.2(MSH2):c.2292G>A (p.Trp764Ter) rs63751105
NM_000251.2(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2307C>G (p.Tyr769Ter) rs1573574086
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2362dup (p.Thr788fs) rs63750463
NM_000251.2(MSH2):c.2369del (p.Leu790fs) rs1558521949
NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) rs63749917
NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.2(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.251del (p.Asn84fs) rs786202037
NM_000251.2(MSH2):c.2523dup (p.Glu842fs) rs1553370366
NM_000251.2(MSH2):c.2532dup (p.Lys845Ter) rs1553370371
NM_000251.2(MSH2):c.2536C>T (p.Gln846Ter) rs63750857
NM_000251.2(MSH2):c.2557G>T (p.Glu853Ter) rs1553370397
NM_000251.2(MSH2):c.2563C>T (p.Gln855Ter) rs1553370404
NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.2(MSH2):c.2585dup (p.Tyr863fs) rs1553370431
NM_000251.2(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.2(MSH2):c.2626G>T (p.Glu876Ter) rs1573579206
NM_000251.2(MSH2):c.2634+5G>C rs267608017
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.2(MSH2):c.2640_2656del (p.Glu881fs) rs1064792951
NM_000251.2(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.2(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.28C>T (p.Gln10Ter) rs63751099
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.350G>A (p.Trp117Ter) rs786202083
NM_000251.2(MSH2):c.362del (p.Tyr121fs) rs1114167831
NM_000251.2(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.367-525_493del rs1553350466
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.408del (p.Phe136fs) rs63750408
NM_000251.2(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.2(MSH2):c.437_438GT[3] (p.Val148fs) rs1558459096
NM_000251.2(MSH2):c.472C>T (p.Gln158Ter) rs63751226
NM_000251.2(MSH2):c.475del (p.Arg159fs) rs1553350758
NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.2(MSH2):c.525_532del (p.Cys176fs) rs1114167877
NM_000251.2(MSH2):c.528_529delTG rs587779164
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.2(MSH2):c.592G>T (p.Glu198Ter) rs587779166
NM_000251.2(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.2(MSH2):c.613G>T (p.Glu205Ter) rs63749984
NM_000251.2(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.2(MSH2):c.643del (p.Gln215fs) rs1558459882
NM_000251.2(MSH2):c.650_654del (p.Ile217fs) rs63751602
NM_000251.2(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.2(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.696_697del (p.Ser233fs) rs63750426
NM_000251.2(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.2(MSH2):c.754C>T (p.Gln252Ter) rs63750347
NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.2(MSH2):c.792+1G>A rs267607934
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.812_813del (p.Ser271fs) rs1573451108
NM_000251.2(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.830T>G (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.832G>T (p.Glu278Ter) rs1558464008
NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.859G>T (p.Gly287Ter) rs63750276
NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.2(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.2(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000251.2(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.2(MSH2):c.897T>G (p.Tyr299Ter) rs879254104
NM_000251.2(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000251.2(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.2(MSH2):c.934del (p.Leu312fs) rs267607937
NM_000251.2(MSH2):c.939del (p.Gln314fs) rs796532309
NM_000251.2(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>T rs12476364
NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) rs63750502
NM_000251.2(MSH2):c.970_971del (p.Gln324fs) rs63751044
NM_000251.2(MSH2):c.979del (p.Ala327fs) rs1558466434
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3(MSH2):c.102dup (p.Arg35fs)
NM_000251.3(MSH2):c.1102G>T (p.Glu368Ter)
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1151dup (p.Asp386fs) rs1573484655
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1277-1G>T
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1387-10=
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
NM_000251.3(MSH2):c.1550_1551CA[1] (p.Gln518fs) rs63749930
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
NM_000251.3(MSH2):c.1643del (p.Gly548fs)
NM_000251.3(MSH2):c.1661+1G>C
NM_000251.3(MSH2):c.1662-1G>A rs267607970
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
NM_000251.3(MSH2):c.1704del (p.Glu569fs)
NM_000251.3(MSH2):c.173_174delinsAA (p.Phe58Ter)
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
NM_000251.3(MSH2):c.1770del (p.Glu590fs) rs1573566217
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.190del (p.Ile64fs)
NM_000251.3(MSH2):c.191del (p.Ile64fs) rs1573424223
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
NM_000251.3(MSH2):c.1929dup (p.Val644fs)
NM_000251.3(MSH2):c.1935del (p.Asp646fs) rs1573567212
NM_000251.3(MSH2):c.1959del (p.Asn653fs) rs1573567340
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.3(MSH2):c.1985dup (p.Met663fs) rs1573567537
NM_000251.3(MSH2):c.1993del (p.His665fs)
NM_000251.3(MSH2):c.2003del (p.Thr668fs) rs1573567630
NM_000251.3(MSH2):c.2005+255_2089del
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.2052dup (p.Ile685fs)
NM_000251.3(MSH2):c.2060del (p.Leu687fs) rs1573569948
NM_000251.3(MSH2):c.20dup (p.Thr8fs)
NM_000251.3(MSH2):c.211+1G>C
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2156dup (p.Leu719fs)
NM_000251.3(MSH2):c.2179del (p.Ala727fs) rs1573570621
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs) rs1573573619
NM_000251.3(MSH2):c.2238del (p.Ile746_Ile747insTer)
NM_000251.3(MSH2):c.227_228AG[1] (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2352del (p.His785fs)
NM_000251.3(MSH2):c.2389_2390del (p.Thr796_Val797insTer)
NM_000251.3(MSH2):c.241_262del (p.Ser81fs)
NM_000251.3(MSH2):c.2474del (p.Ser825fs) rs1573578423
NM_000251.3(MSH2):c.2481del (p.Ile828fs) rs1573578439
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)
NM_000251.3(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2640_2641dup (p.Glu881fs)
NM_000251.3(MSH2):c.298del (p.Val100fs)
NM_000251.3(MSH2):c.387_388del rs63750924
NM_000251.3(MSH2):c.419_420AT[1] (p.Met141fs) rs1553350680
NM_000251.3(MSH2):c.463del (p.Val155fs)
NM_000251.3(MSH2):c.492_493del (p.Tyr165fs)
NM_000251.3(MSH2):c.508_509insCTCC (p.Gln170fs)
NM_000251.3(MSH2):c.679del (p.Arg227fs) rs1573446614
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
NM_000251.3(MSH2):c.793-2A>G
NM_000251.3(MSH2):c.817del (p.Ala272_Val273insTer)
NM_000251.3(MSH2):c.867del (p.Phe289fs)
NM_000251.3(MSH2):c.882_883insSVAelement
NM_000251.3(MSH2):c.914_923del (p.Ala305fs)
NM_000251.3(MSH2):c.938_939dup (p.Gln314fs)
NM_000251.3(MSH2):c.942+3A>T rs193922376
NM_000251.3(MSH2):c.955_959del (p.Asp319fs)
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)
NM_000535.5(PMS2):c.904-10_*10del
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1027del (p.Ile343fs) rs1562644987
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1064T>G (p.Leu355Ter)
NM_000535.7(PMS2):c.1068del (p.Thr357fs) rs1554298741
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1115_1118TCAG[1] (p.Gln374fs) rs757679199
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter) rs1243063129
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter) rs1562635799
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter) rs587782175
NM_000535.7(PMS2):c.1281del (p.His428fs)
NM_000535.7(PMS2):c.1313dup (p.Thr439fs) rs1562634737
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1356del (p.Met453fs)
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.1375del (p.Ser459fs)
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.142del (p.Asp48fs) rs1064794173
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter) rs587782602
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1515del (p.Phe506fs) rs1583319050
NM_000535.7(PMS2):c.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1553del (p.Glu518fs) rs1583318494
NM_000535.7(PMS2):c.1559del (p.Ala520fs) rs1554297564
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1672del (p.Thr558fs) rs1562629003
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs)
NM_000535.7(PMS2):c.1746del (p.Glu583fs) rs1554297285
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1842dup (p.Val615fs)
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1885del (p.Arg628_Ile629insTer)
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs) rs1562626204
NM_000535.7(PMS2):c.1897del (p.His633fs)
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter) rs1554297082
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.198_213del (p.Ile66fs)
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2007-2A>C rs587782336
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter) rs1583299686
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs) rs1562614946
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2249del (p.Gly750fs) rs1583285552
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) rs1554293975
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer) rs1554293959
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2357_2445+510del rs1562598658
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.312del (p.Phe104fs)
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.345_346del (p.Ala116fs)
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.3G>C (p.Met1Ile)
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter) rs36038802
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
NM_000535.7(PMS2):c.630del (p.Lys210fs)
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter) rs762387250
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs) rs746766787
NM_000535.7(PMS2):c.688_689GT[1] (p.Phe231fs) rs1064795447
NM_000535.7(PMS2):c.691_694del (p.Phe231fs)
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs) rs1583375182
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.804-2A>G
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.870del (p.Phe291fs)
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.902dup (p.Val302fs)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs) rs878854060
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_001167617.2(MLH1):c.-134del rs63750028
NM_001167617.2(MLH1):c.-134dup rs63750028
NM_001167617.2(MLH1):c.-171del rs587778896
NM_001167617.2(MLH1):c.-450del rs63750822
NM_001167617.2(MLH1):c.-454_-435del rs1575376458
NM_001167617.2(MLH1):c.-456del rs63750581
NM_001167617.2(MLH1):c.-465del rs63749804
NM_001167617.2(MLH1):c.-486del rs63749816
NM_001167617.2(MLH1):c.-492_-491delinsTA rs869312767
NM_001167617.2(MLH1):c.-58del rs587778997
NM_001167617.2(MLH1):c.-7del rs1064795441
NM_001167617.2(MLH1):c.-80_-78AGA[1] rs63751642
NM_001167617.2(MLH1):c.-95delinsATCTT rs1553638868
NM_001167617.2(MLH1):c.1040_1041AG[1] (p.Ser348fs) rs1114167435
NM_001167617.2(MLH1):c.1083dup (p.Glu362fs) rs63750020
NM_001167617.2(MLH1):c.1119_1120GA[1] (p.Arg374fs) rs281864936
NM_001167617.2(MLH1):c.1195del (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1195dup (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1226dup (p.Leu409fs) rs63749916
NM_001167617.2(MLH1):c.1260dup (p.Glu421Ter) rs63751689
NM_001167617.2(MLH1):c.1396_1399del (p.Leu466fs) rs267607849
NM_001167617.2(MLH1):c.1883_1884CA[2] (p.Ile630fs) rs267607898
NM_001167617.2(MLH1):c.1901_1904dup (p.His635fs) rs267607903
NM_001167617.2(MLH1):c.1924dup (p.Ile642fs) rs587778989
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167617.2(MLH1):c.1958_1959dup (p.Val654fs) rs267607901
NM_001167617.2(MLH1):c.1972_1975dup (p.Ter659LeuextTer?) rs267607892
NM_001167617.2(MLH1):c.811dup (p.Ser271fs) rs1060500699
NM_001167617.2(MLH1):c.896del (p.Leu299fs) rs63750749
NM_001167617.2(MLH1):c.916_917del (p.Leu306fs) rs63751015
NM_001167617.2(MLH1):c.958_959del (p.Asp320fs) rs63751118
NM_001167617.2(MLH1):c.967delinsTAT (p.Ser323fs) rs1553651130
NM_001167618.2(MLH1):c.-1_3AATG[1] (p.Asn2fs) rs267607787
NM_001167618.2(MLH1):c.-221dup rs63749959
NM_001167618.2(MLH1):c.-250del rs1559524070
NM_001167618.2(MLH1):c.-296dup rs63751045
NM_001167618.2(MLH1):c.-51_-48del rs267607774
NM_001167618.2(MLH1):c.-98del rs1559530646
NM_001258271.1(MLH1):c.1896+875_1896+882dup rs1064794331
NM_001258271.1(MLH1):c.1896+883del rs281864938
NM_001258281.1(MSH2):c.-30-16dup rs1553348842
NM_001258281.1(MSH2):c.-30-54del rs1553348794
NM_001258281.1(MSH2):c.-31+27_-31+28delinsC rs1558451119
NM_001258281.1(MSH2):c.1067_1071delinsGAAAAG (p.Glu356fs) rs63751667
NM_001258281.1(MSH2):c.1118_1119CT[1] (p.Leu374fs) rs587779083
NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs) rs587779148
NM_001258281.1(MSH2):c.488_489del (p.Lys163fs) rs63749897
NM_001258281.1(MSH2):c.763_808del (p.Thr255fs) rs1553353114
NM_001258281.1(MSH2):c.810del (p.Gln271fs) rs879253899
NM_001258281.1(MSH2):c.94_95TA[1] (p.Tyr32_Arg33delinsTer) rs1553350167
NM_001281492.1(MSH6):c.1031_1032dup (p.Gln345fs) rs63750854
NM_001281492.1(MSH6):c.1059_1072delinsAGC (p.Glu354fs) rs1114167715
NM_001281492.1(MSH6):c.1200del (p.Ser402fs) rs587779216
NM_001281492.1(MSH6):c.1216_1219AGTA[1] (p.Lys407fs) rs863224829
NM_001281492.1(MSH6):c.1244_1247del (p.Lys415fs) rs63749874
NM_001281492.1(MSH6):c.1245_1246AG[1] (p.Glu416fs) rs267608076
NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs) rs587783056
NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) rs63750735
NM_001281492.1(MSH6):c.1511_1512del (p.Thr503_Leu504insTer) rs267608082
NM_001281492.1(MSH6):c.1567_1570dup (p.Met524fs) rs63751167
NM_001281492.1(MSH6):c.1670_1671GT[1] (p.Val558fs) rs63750075
NM_001281492.1(MSH6):c.1689dup (p.Cys564fs) rs267608083
NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) rs267608058
NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs) rs864622585
NM_001281492.1(MSH6):c.1958_1959del (p.Leu652_Cys653insTer) rs267608065
NM_001281492.1(MSH6):c.2108_2109AG[1] (p.Gln705fs) rs1064794164
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.237+7546_237+7549dup rs1473648816
NM_001281492.1(MSH6):c.237+7570_238-7563delinsT rs1553410300
NM_001281492.1(MSH6):c.238-7503_238-7502del rs1060502875
NM_001281492.1(MSH6):c.238-7522del rs1114167728
NM_001281492.1(MSH6):c.2382_2383del (p.Gly795fs) rs1553414131
NM_001281492.1(MSH6):c.2638del (p.Thr880fs) rs1114167773
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.2718_2719del (p.Phe907fs) rs1553414519
NM_001281492.1(MSH6):c.2729_2730del (p.Asn909_Phe910insTer) rs267608042
NM_001281492.1(MSH6):c.2763_2764AG[1] (p.Glu922fs) rs63750833
NM_001281492.1(MSH6):c.2806_2807TA[1] (p.Tyr936_Ser937delinsTer) rs63749821
NM_001281492.1(MSH6):c.2878_2884del (p.Glu960fs) rs587779259
NM_001281492.1(MSH6):c.2921_2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2922del (p.Phe974fs) rs267608092
NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer) rs587782562
NM_001281492.1(MSH6):c.3026del (p.Gly1009fs) rs587781544
NM_001281492.1(MSH6):c.3123_3124del (p.Asp1041fs) rs63750194
NM_001281492.1(MSH6):c.3124_3125AG[1] (p.Arg1042fs) rs398123232
NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) rs63751327
NM_001281492.1(MSH6):c.3149_3152CAGA[1] (p.Asp1051fs) rs1553332297
NM_001281492.1(MSH6):c.3172_3175dup (p.Thr1059fs) rs786203331
NM_001281492.1(MSH6):c.3309_3312del (p.Lys1103fs) rs193922343
NM_001281492.1(MSH6):c.3324_3325TA[1] (p.Ile1109fs) rs1064794384
NM_001281492.1(MSH6):c.3407_3408AT[1] (p.Met1137fs) rs267608114
NM_001281492.1(MSH6):c.3414dup (p.Cys1139fs) rs267608118
NM_001281492.1(MSH6):c.3450_3456del (p.Glu1151fs) rs63751319
NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) rs267608128
NM_001281492.1(MSH6):c.3461delinsTTAAT (p.Thr1154fs) rs1553333438
NM_001281492.1(MSH6):c.3488_3491dup (p.Pro1165fs) rs1553333500
NM_001281492.1(MSH6):c.3530_3537dup (p.Glu1180fs) rs587779295
NM_001281492.1(MSH6):c.3548_3551dup (p.Gln1184fs) rs267608126
NM_001281492.1(MSH6):c.3549_3567dup (p.Ala1190delinsSerLysGlyThrTer) rs63750767
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.3590dup (p.Asn1197fs) rs587782326
NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) rs267608077
NM_001281492.1(MSH6):c.749_753del (p.Asp250fs) rs587779206
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.800_801del (p.Tyr267fs) rs63750439
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001281493.1(MSH6):c.-11del rs1060502941
NM_001281493.1(MSH6):c.-166dup rs267608041
NM_001281493.1(MSH6):c.-184dup rs1558659056
NM_001281493.1(MSH6):c.-1_1del (p.Met1fs) rs1558659699
NM_001281493.1(MSH6):c.-203_-202CA[1] rs1553412129
NM_001281493.1(MSH6):c.-204_-198del rs1558658980
NM_001281493.1(MSH6):c.-209_-194del rs1558658971
NM_001281493.1(MSH6):c.-210_-209del rs1572720016
NM_001281493.1(MSH6):c.-213_-207del rs1572719974
NM_001281493.1(MSH6):c.-256dup rs63750955
NM_001281493.1(MSH6):c.-29_-24delinsTTCG rs1114167748
NM_001281493.1(MSH6):c.-34_-33del rs1060502888
NM_001281493.1(MSH6):c.-62dup rs1553412283
NM_001281493.1(MSH6):c.-653_-652del rs1558644886
NM_001281493.1(MSH6):c.-658del rs1553408158
NM_001281493.1(MSH6):c.-731_-730delinsCT rs1558644683
NM_001281493.1(MSH6):c.-7dup rs863225421
NM_001281493.1(MSH6):c.-98del rs1114167696
NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001354.5(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001354621.1(MLH1):c.-139-2750_-139-2737del rs1559539489
NM_001354621.1(MLH1):c.-139-2799del rs1553646602
NM_001354621.1(MLH1):c.-139-2802del rs863225384
NM_001354621.1(MLH1):c.-13_-10delinsAATGTGCA rs1553648195
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354621.1(MLH1):c.-140+2386_-140+2389del rs587779037
NM_001354621.1(MLH1):c.-67_-65delinsT rs1559544064
NM_001354621.1(MLH1):c.-84del rs1553648023
NM_001354621.1(MLH1):c.-85dup rs63751259
NM_001354624.1(MLH1):c.-25del rs587778883
NM_001354624.1(MLH1):c.-28_-26delinsT rs1559551570
NM_001354624.1(MLH1):c.-29dup rs267607822
NM_001354624.1(MLH1):c.-36-5180del rs1553648225
NM_001354630.1(MLH1):c.1732-853del rs63750152
NM_001354630.1(MLH1):c.1732-875del rs63749986
NM_001354630.1(MLH1):c.1732-906_1732-905dup rs1575621506
NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACC rs863225378
NM_001354630.1(MLH1):c.1732-951AG[2] rs63750035
NM_001354630.1(MLH1):c.1732-958_1732-955del rs63749868
NM_001354630.1(MLH1):c.1732-985_1732-972del rs1575620443
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.712del (p.Glu238fs) rs1558438591
Single allele

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