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: 897
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_47596635)_(47596730_?)del
NC_000002.11:g.(?_47596635)_(47613762_?)del
NC_000002.11:g.(?_47596635)_(47637521_?)del
NC_000002.11:g.(?_47596635)_(47643578_?)del
NC_000002.11:g.(?_47596635)_(47653277_?)del
NC_000002.11:g.(?_47596635)_(47657090_?)del
NC_000002.11:g.(?_47596635)_(47669575_?)del
NC_000002.11:g.(?_47596635)_(47672806_?)del
NC_000002.11:g.(?_47596635)_(47698211_?)del
NC_000002.11:g.(?_47596635)_(47710098_?)del
NC_000002.11:g.(?_47596639)_(47596726_?)del
NC_000002.11:g.(?_47596639)_(47607114_?)del
NC_000002.11:g.(?_47596639)_(47657086_?)del
NC_000002.11:g.(?_47596639)_(47672802_?)del
NC_000002.11:g.(?_47600592)_(47607118_?)del
NC_000002.11:g.(?_47600592)_(47643578_?)del
NC_000002.11:g.(?_47600596)_(47607114_?)del
NC_000002.11:g.(?_47600596)_(47613758_?)del
NC_000002.11:g.(?_47600602)_(47604216_?)del
NC_000002.11:g.(?_47604143)_(47604226_?)del
NC_000002.11:g.(?_47604143)_(47613762_?)del
NC_000002.11:g.(?_47604143)_(47657090_?)del
NC_000002.11:g.(?_47604147)_(47637517_?)del
NC_000002.11:g.(?_47612295)_(47613762_?)del
NC_000002.11:g.(?_47612299)_(47630547_?)del
NC_000002.11:g.(?_47630321)_(47630551_?)del
NC_000002.11:g.(?_47630321)_(47632584_?)del
NC_000002.11:g.(?_47630321)_(47635704_?)del
NC_000002.11:g.(?_47630321)_(47641567_?)del
NC_000002.11:g.(?_47630321)_(47643578_?)del
NC_000002.11:g.(?_47630321)_(47657090_?)del
NC_000002.11:g.(?_47630321)_(47710098_?)del
NC_000002.11:g.(?_47630325)_(47637517_?)del
NC_000002.11:g.(?_47635530)_(47639709_?)del
NC_000002.11:g.(?_47635534)_(47641563_?)del
NC_000002.11:g.(?_47635534)_(47657086_?)del
NC_000002.11:g.(?_47637223)_(47657090_?)del
NC_000002.11:g.(?_47637223)_(47710098_?)del
NC_000002.11:g.(?_47639543)_(47643578_?)del
NC_000002.11:g.(?_47643425)_(47643578_?)del
NC_000002.11:g.(?_47669476)_(47710098_?)del
NC_000002.11:g.(?_47690164)_(47702415_?)del
NC_000002.11:g.(?_47702154)_(47710098_?)del
NC_000002.11:g.(?_47702158)_(47708016_?)del
NC_000002.11:g.(?_47705401)_(47705668_?)del
NC_000002.11:g.(?_47705401)_(47708020_?)del
NC_000002.11:g.(?_47705401)_(47710098_?)del
NC_000002.11:g.(?_47709908)_(47710098_?)del
NC_000002.11:g.(?_48010363)_(48010642_?)del
NC_000002.11:g.(?_48010363)_(48018272_?)del
NC_000002.11:g.(?_48010363)_(48034009_?)del
NC_000002.11:g.(?_48010367)_(48018268_?)del
NC_000002.11:g.(?_48010367)_(48034005_?)del
NC_000002.11:g.(?_48018056)_(48018272_?)del
NC_000002.11:g.(?_48018056)_(48028304_?)del
NC_000002.11:g.(?_48023027)_(48030830_?)del
NC_000002.11:g.(?_48025740)_(48028304_?)del
NC_000002.11:g.(?_48029101)_(48033445_?)del
NC_000002.11:g.(?_48030549)_(48032176_?)del
NC_000002.11:g.(?_48030553)_(48030830_?)del
NC_000002.11:g.(?_48032039)_(48032856_?)del
NC_000002.11:g.(?_48032043)_(48032852_?)del
NC_000003.11:g.(?_37034542)_(37038210_?)del
NC_000003.11:g.(?_37034542)_(37045971_?)del
NC_000003.11:g.(?_37034542)_(37050402_?)del
NC_000003.11:g.(?_37034542)_(37050406_?)del
NC_000003.11:g.(?_37034542)_(37053600_?)del
NC_000003.11:g.(?_37034542)_(37059096_?)del
NC_000003.11:g.(?_37034542)_(37070433_?)del
NC_000003.11:g.(?_37034542)_(37092150_?)del
NC_000003.11:g.(?_37034542)_(37092154_?)del
NC_000003.11:g.(?_37038100)_(37042554_?)del
NC_000003.11:g.(?_37038100)_(37092154_?)del
NC_000003.11:g.(?_37038104)_(37092150_?)del
NC_000003.11:g.(?_37045882)_(37056045_?)del
NC_000003.11:g.(?_37053301)_(37056045_?)del
NC_000003.11:g.(?_37055917)_(37070429_?)del
NC_000003.11:g.(?_37061791)_(37092154_?)del
NC_000003.11:g.(?_37081667)_(37092154_?)del
NC_000003.11:g.(?_37081671)_(37092150_?)del
NC_000003.11:g.(?_37089000)_(37089184_?)del
NC_000003.11:g.(?_37089000)_(37092154_?)del
NC_000003.11:g.(?_37089004)_(37089180_?)del
NC_000003.11:g.(?_37089998)_(37092154_?)del
NC_000003.11:g.(?_37091971)_(37092150_?)del
NC_000007.13:g.(?_6013020)_(6013183_?)del
NC_000007.13:g.(?_6013020)_(6022632_?)del
NC_000007.13:g.(?_6013024)_(6013179_?)del
NC_000007.13:g.(?_6013024)_(6022628_?)del
NC_000007.13:g.(?_6017209)_(6017398_?)del
NC_000007.13:g.(?_6017209)_(6022632_?)del
NC_000007.13:g.(?_6017213)_(6017394_?)del
NC_000007.13:g.(?_6026380)_(6027261_?)del
NC_000007.13:g.(?_6026380)_(6029596_?)del
NC_000007.13:g.(?_6026380)_(6031698_?)del
NC_000007.13:g.(?_6026380)_(6035274_?)del
NC_000007.13:g.(?_6026380)_(6037064_?)del
NC_000007.13:g.(?_6026380)_(6048660_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)del
NC_000007.13:g.(?_6026384)_(6031694_?)del
NC_000007.13:g.(?_6026384)_(6037060_?)del
NC_000007.13:g.(?_6026384)_(6042273_?)del
NC_000007.13:g.(?_6026384)_(6048656_?)del
NC_000007.13:g.(?_6029421)_(6029596_?)del
NC_000007.13:g.(?_6029421)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6031698_?)del
NC_000007.13:g.(?_6031594)_(6042277_?)del
NC_000007.13:g.(?_6031594)_(6048660_?)del
NC_000007.13:g.(?_6031598)_(6037060_?)del
NC_000007.13:g.(?_6035155)_(6035274_?)del
NC_000007.13:g.(?_6035155)_(6038916_?)del
NC_000007.13:g.(?_6035159)_(6035270_?)del
NC_000007.13:g.(?_6036947)_(6037064_?)del
NC_000007.13:g.(?_6036947)_(6038916_?)del
NC_000007.13:g.(?_6036947)_(6043699_?)del
NC_000007.13:g.(?_6038729)_(6045672_?)del
NC_000007.13:g.(?_6038733)_(6048656_?)del
NC_000007.13:g.(?_6042074)_(6043699_?)del
NC_000007.13:g.(?_6042078)_(6043695_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)del
NC_000007.13:g.(?_6045517)_(6045668_?)del
NC_000007.13:g.(?_6048618)_(6048660_?)del
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.103_113del (p.Ala35fs)
NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter) rs863224473
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
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.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.2(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.2(MSH6):c.1223del (p.Pro408fs) rs1553412649
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.1248dup (p.Lys417Ter)
NM_000179.2(MSH6):c.1281C>G (p.Tyr427Ter)
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.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter) rs864622435
NM_000179.2(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
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.1449_1462delinsAGC (p.Glu484fs) rs1114167715
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1512del (p.Lys504fs)
NM_000179.2(MSH6):c.1515T>A (p.Tyr505Ter)
NM_000179.2(MSH6):c.1515T>G (p.Tyr505Ter)
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.1606_1609AGTA[1] (p.Lys537fs) rs771764652
NM_000179.2(MSH6):c.1608dup (p.Lys537Ter)
NM_000179.2(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.2(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.2(MSH6):c.1635_1636AG[1] (p.Glu546fs) rs267608076
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.1705_1706del (p.Phe569fs) rs587783056
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.1767del (p.Pro591fs) rs1114167765
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.2(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.2(MSH6):c.1819del (p.Thr607fs)
NM_000179.2(MSH6):c.1835C>G (p.Ser612Ter) rs63750564
NM_000179.2(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
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.1969del (p.Gln657fs) rs876661205
NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer) rs1060502918
NM_000179.2(MSH6):c.2020_2147delinsTTGT (p.Gly674fs) rs1558663954
NM_000179.2(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.2(MSH6):c.2041del (p.Leu681fs)
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.2079del (p.Lys693fs) rs267608083
NM_000179.2(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.2(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.2(MSH6):c.2118del (p.Phe706fs)
NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.2(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
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.2239del (p.Phe746_Leu747insTer)
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)
NM_000179.2(MSH6):c.2295C>A (p.Cys765Ter)
NM_000179.2(MSH6):c.2308_2312delinsT (p.Gly770fs) rs864622585
NM_000179.2(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
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.2419G>T (p.Glu807Ter) rs587779923
NM_000179.2(MSH6):c.2419dup (p.Glu807fs) rs1553413784
NM_000179.2(MSH6):c.2504del (p.Gln835fs)
NM_000179.2(MSH6):c.2521del (p.Arg841fs) rs1114167771
NM_000179.2(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.2(MSH6):c.2550C>G (p.Tyr850Ter) rs374230313
NM_000179.2(MSH6):c.2602dup (p.Met868fs)
NM_000179.2(MSH6):c.261-1G>C rs863225402
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.2759dup (p.Ala921fs)
NM_000179.2(MSH6):c.2772_2773del (p.Gly925fs) rs1553414131
NM_000179.2(MSH6):c.2802_2803CT[1] (p.Asp934_Ser935insTer) rs878853721
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.2873del (p.Gln958fs)
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)
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>A (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3018C>G (p.Tyr1006Ter) rs1553414395
NM_000179.2(MSH6):c.3021G>A (p.Trp1007Ter)
NM_000179.2(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
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.3078dup (p.Val1027fs)
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.3091dup (p.Asp1031fs)
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.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.2(MSH6):c.3109_3112del (p.Phe1037fs) rs1558668156
NM_000179.2(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.2(MSH6):c.3137_3138del (p.Asp1046fs) rs1558668258
NM_000179.2(MSH6):c.313del (p.Trp105fs)
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3153_3154AG[1] (p.Glu1052fs) rs63750833
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.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3196_3197TA[1] (p.Tyr1066_Ser1067delinsTer) rs63749821
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3209del (p.Gly1070fs)
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3223dup (p.Cys1075fs)
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.3261del (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.2(MSH6):c.3276dup (p.Gly1093fs) rs1558387361
NM_000179.2(MSH6):c.3281dup (p.Arg1095fs) rs1553331454
NM_000179.2(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.2(MSH6):c.3312del (p.Phe1104fs) rs267608092
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.2(MSH6):c.3371del (p.Asn1124fs) rs1553331659
NM_000179.2(MSH6):c.3383_3384dup (p.Cys1129fs)
NM_000179.2(MSH6):c.3398del (p.Thr1133fs) rs1553331722
NM_000179.2(MSH6):c.3416del (p.Gly1139fs) rs587781544
NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
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.350_353dup (p.Phe119fs)
NM_000179.2(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.2(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer) rs1324100572
NM_000179.2(MSH6):c.3514_3515AG[1] (p.Arg1172fs) rs398123232
NM_000179.2(MSH6):c.3514dup (p.Arg1172fs) rs63751327
NM_000179.2(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3539_3542CAGA[1] (p.Asp1181fs) rs1553332297
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
NM_000179.2(MSH6):c.3562_3565dup (p.Thr1189fs) rs786203331
NM_000179.2(MSH6):c.3562del (p.Ser1188fs) rs1553332622
NM_000179.2(MSH6):c.3573dup (p.Val1192fs) rs1057517764
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.3647-1G>A rs587779279
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_3702del (p.Lys1233fs) rs193922343
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3699del (p.Glu1234fs) rs1558392033
NM_000179.2(MSH6):c.3714_3715TA[1] (p.Ile1239fs) rs1064794384
NM_000179.2(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
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.374_382delinsT (p.Lys125fs) rs1553410300
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.2(MSH6):c.3775_3776del (p.Asn1259fs)
NM_000179.2(MSH6):c.377C>G (p.Ser126Ter) rs1114167689
NM_000179.2(MSH6):c.3793G>T (p.Gly1265Ter)
NM_000179.2(MSH6):c.3797_3798AT[1] (p.Met1267fs) rs267608114
NM_000179.2(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.2(MSH6):c.3808_3824dup (p.Cys1275Ter)
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)
NM_000179.2(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.2(MSH6):c.3846dup (p.Ile1283fs) rs866771359
NM_000179.2(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.2(MSH6):c.3847_3851delinsTA (p.Ile1283_Thr1284delinsTer)
NM_000179.2(MSH6):c.3851delinsTTAAT (p.Thr1284fs) rs1553333438
NM_000179.2(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer) rs1553333449
NM_000179.2(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
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.3920_3927dup (p.Glu1310fs) rs587779295
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.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.2(MSH6):c.3935_3954dup (p.Lys1319fs) rs1553333644
NM_000179.2(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767
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)
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.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.2(MSH6):c.3966dup (p.Phe1323fs) rs886044911
NM_000179.2(MSH6):c.3972_3979del (p.Lys1325fs)
NM_000179.2(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.2(MSH6):c.3980dup (p.Asn1327fs) rs587782326
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.423del (p.Trp142fs) rs1114167728
NM_000179.2(MSH6):c.442_443del (p.Leu148fs) rs1060502875
NM_000179.2(MSH6):c.461C>G (p.Ser154Ter) rs1553411391
NM_000179.2(MSH6):c.463A>T (p.Lys155Ter)
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.517_520del (p.Leu173fs) rs1553411419
NM_000179.2(MSH6):c.564dup (p.Lys189Ter)
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>G (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.644dup (p.Thr216fs)
NM_000179.2(MSH6):c.651dup (p.Lys218Ter) rs63750955
NM_000179.2(MSH6):c.694_700del (p.Gln232fs)
NM_000179.2(MSH6):c.697_698del (p.Gln232_Pro233insTer)
NM_000179.2(MSH6):c.698_713del (p.Pro233fs) rs1558658971
NM_000179.2(MSH6):c.6_7delinsCT (p.Arg3Ter) rs1558644683
NM_000179.2(MSH6):c.703_709del (p.Thr235fs) rs1558658980
NM_000179.2(MSH6):c.704_705CA[1] (p.Gln236fs) rs1553412129
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.723dup (p.Ser242Ter) rs1558659056
NM_000179.2(MSH6):c.741dup (p.Arg248fs) 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.79del (p.Ala27fs) rs1553408158
NM_000179.2(MSH6):c.809del (p.Lys270fs) rs1114167696
NM_000179.2(MSH6):c.845dup (p.Asp284fs) rs1553412283
NM_000179.2(MSH6):c.84_85del (p.Glu30fs) rs1558644886
NM_000179.2(MSH6):c.850_851insC (p.Asp284fs)
NM_000179.2(MSH6):c.873_874del (p.Asn291fs) rs1060502888
NM_000179.2(MSH6):c.878_883delinsTTCG (p.Pro293fs) rs1114167748
NM_000179.2(MSH6):c.885dup (p.Val296fs)
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.2(MSH6):c.896del (p.Lys299fs) rs1060502941
NM_000179.2(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000179.2(MSH6):c.906_907del (p.Arg302fs) rs1558659699
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_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1011_1014delinsAATGTGCA (p.Asn338fs) rs1553648195
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.3(MLH1):c.1047_1049delinsT (p.Pro350fs) rs1559551570
NM_000249.3(MLH1):c.1105dup (p.Ser369fs) rs1060500699
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.3(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
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.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.3(MLH1):c.1261delinsTAT (p.Ser421fs) rs1553651130
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
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)
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1409+1G>A rs267607825
NM_000249.3(MLH1):c.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.1413_1414GA[1] (p.Arg472fs) rs281864936
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.1489del (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1489dup (p.Arg497fs) rs63750855
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.1554dup (p.Glu519Ter) rs63751689
NM_000249.3(MLH1):c.1558+1G>A rs267607832
NM_000249.3(MLH1):c.1559-1G>C rs267607837
NM_000249.3(MLH1):c.1559-2A>C rs267607836
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.156dup (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1597del (p.Cys533fs) rs1559575107
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.1668-1G>A rs267607845
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.1690_1693del (p.Leu564fs) rs267607849
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.1745_1758del (p.Leu582fs)
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.3(MLH1):c.1779_1780AG[2] (p.Ser595fs) rs63750035
NM_000249.3(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs) rs1553662800
NM_000249.3(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.3(MLH1):c.1791G>A (p.Trp597Ter) rs1416171624
NM_000249.3(MLH1):c.1818delinsCTT (p.Leu607fs)
NM_000249.3(MLH1):c.1824_1825dup (p.Glu609fs)
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.3(MLH1):c.1877del (p.Phe626fs) rs63750152
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.1938_1945dup (p.Pro649fs) rs1064794331
NM_000249.3(MLH1):c.1946del (p.Pro649fs) rs281864938
NM_000249.3(MLH1):c.1956_1957del (p.Leu653fs) rs1553663981
NM_000249.3(MLH1):c.195delinsATCTT (p.Thr66fs) rs1553638868
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
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>A (p.Gly67Arg) rs63750206
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.2009dup (p.Glu671fs)
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
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.2065C>T (p.Gln689Ter) rs41542214
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)
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.209_215delAAGAAGA rs730881734
NM_000249.3(MLH1):c.210_212AGA[1] (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
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.2195_2198dup (p.His733fs) rs267607903
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)
NM_000249.3(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter) rs878853787
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2253del (p.Val752fs) rs267607901
NM_000249.3(MLH1):c.2259del (p.Phe753fs) rs1060500698
NM_000249.3(MLH1):c.2261_2262AG[1] (p.Arg755fs) rs1559597322
NM_000249.3(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.232del (p.Glu78fs) rs587778997
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.272T>G (p.Leu91Ter) rs63751137
NM_000249.3(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.320T>A (p.Ile107Lys)
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.390C>G (p.Tyr130Ter) rs1060500689
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.474del (p.Asn158fs) rs1559524070
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
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.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.589-2A>G rs267607767
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.626del (p.Asn209fs) rs1559530646
NM_000249.3(MLH1):c.632del (p.Ala210_Ser211insTer)
NM_000249.3(MLH1):c.63_82del (p.Gly22fs)
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+3A>G rs267607780
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.67dup (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.723_726AATG[1] (p.Asn243fs) rs267607787
NM_000249.3(MLH1):c.735C>A (p.Tyr245Ter) rs1553645226
NM_000249.3(MLH1):c.768C>A (p.Cys256Ter)
NM_000249.3(MLH1):c.77del (p.Gln26fs)
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dupT rs267607791
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000249.3(MLH1):c.796del (p.Leu266fs) rs1553646602
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.815T>A (p.Leu272Ter)
NM_000249.3(MLH1):c.833_834dup (p.Val279fs) rs1553646681
NM_000249.3(MLH1):c.845_858del (p.Ala282fs) rs1559539489
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.885-2A>G rs267607805
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.939dup (p.Val314fs) rs63751259
NM_000249.3(MLH1):c.940del (p.Val314fs) rs1553648023
NM_000249.3(MLH1):c.957_959delinsT (p.Glu319fs) rs1559544064
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_000251.2(MSH2):c.1007dup (p.Gln337fs) rs587779064
NM_000251.2(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter) rs63751027
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.1111G>T (p.Glu371Ter)
NM_000251.2(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1151dup (p.Asp386fs)
NM_000251.2(MSH2):c.115del (p.Arg39fs) rs1553348794
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.2(MSH2):c.11_12delinsC (p.Gln4fs) rs1558451119
NM_000251.2(MSH2):c.1201_1204del (p.Leu401fs) rs1558478567
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
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.1265_1269delinsGAAAAG (p.Glu422fs) rs63751667
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.1308dup (p.Val437fs) rs1060502035
NM_000251.2(MSH2):c.1316_1317CT[1] (p.Leu440fs) rs587779083
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.1384C>T (p.Gln462Ter) rs876657701
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-10_1396delins20
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.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.153dup (p.Leu52fs) rs1553348842
NM_000251.2(MSH2):c.1550_1551CA[1] (p.Gln518fs) rs63749930
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.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.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1770del (p.Glu590fs)
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.1786_1788del (p.Asn596del) rs63749831
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)
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.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.191del (p.Ile64fs)
NM_000251.2(MSH2):c.192dup (p.Lys65fs) rs1553348896
NM_000251.2(MSH2):c.1935del (p.Asp646fs)
NM_000251.2(MSH2):c.1939G>T (p.Glu647Ter)
NM_000251.2(MSH2):c.193_194insTC (p.Lys65fs) rs1553348898
NM_000251.2(MSH2):c.1959del (p.Asn653fs)
NM_000251.2(MSH2):c.1968C>A (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1968del (p.Phe657fs) rs1114167805
NM_000251.2(MSH2):c.1985dup (p.Met663fs)
NM_000251.2(MSH2):c.198C>A (p.Tyr66Ter)
NM_000251.2(MSH2):c.2003del (p.Thr668fs)
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2010del (p.Asn671fs) rs63751123
NM_000251.2(MSH2):c.2010dup (p.Asn671fs)
NM_000251.2(MSH2):c.2034T>A (p.Tyr678Ter) rs1558519611
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2060del (p.Leu687fs)
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.206del (p.Pro69fs) rs1553348904
NM_000251.2(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.2(MSH2):c.2085dup (p.Pro696fs) rs1553369100
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.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2179del (p.Ala727fs)
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>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.227_228AG[1] (p.Ser77fs) rs63749848
NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
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)
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2369del (p.Leu790fs) rs1558521949
NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.2(MSH2):c.2474del (p.Ser825fs)
NM_000251.2(MSH2):c.2481del (p.Ile828fs)
NM_000251.2(MSH2):c.2523_2524AG[1] (p.Glu842fs) rs587779148
NM_000251.2(MSH2):c.2523dup (p.Glu842fs) rs1553370366
NM_000251.2(MSH2):c.2532dup (p.Lys845Ter) rs1553370371
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)
NM_000251.2(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) 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.292_293TA[1] (p.Tyr98_Arg99delinsTer) rs1553350167
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.366+1G>A rs267607924
NM_000251.2(MSH2):c.367-525_493del rs1553350466
NM_000251.2(MSH2):c.381_382TC[3] (p.Gln130fs) rs63750924
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.408del (p.Phe136fs) rs63750408
NM_000251.2(MSH2):c.419_420AT[1] (p.Met141fs) rs1553350680
NM_000251.2(MSH2):c.437_438GT[3] (p.Val148fs) rs1558459096
NM_000251.2(MSH2):c.475del (p.Arg159fs) rs1553350758
NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) rs63751426
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.577C>T (p.Gln193Ter) rs63751326
NM_000251.2(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.2(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.2(MSH2):c.643del (p.Gln215fs) rs1558459882
NM_000251.2(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.2(MSH2):c.679del (p.Arg227fs)
NM_000251.2(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.2(MSH2):c.686_687del (p.Lys229fs) rs63749897
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
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.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.812_813del (p.Ser271fs)
NM_000251.2(MSH2):c.832G>T (p.Glu278Ter)
NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) rs63750097
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.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.942+3A>T rs193922376
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>T rs12476364
NM_000251.2(MSH2):c.961_1006del (p.Thr321fs) rs1553353114
NM_000251.2(MSH2):c.979del (p.Ala327fs) rs1558466434
NM_000535.5(PMS2):c.904-10_*10del
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
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.1068del (p.Thr357fs) rs1554298741
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)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
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.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.1366del (p.Ser456fs)
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
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)
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.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
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.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.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1746del (p.Glu583fs) rs1554297285
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
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.1892_1902delinsTAAA (p.Gln631fs) rs1562626204
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
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.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)
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.2140C>T (p.Gln714Ter) rs1057524433
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)
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.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.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.251-2A>T rs587779340
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
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)
NM_000535.7(PMS2):c.538-1G>C rs988423880
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.648C>A (p.Cys216Ter)
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
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.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
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.802dup (p.Tyr268fs) rs267608149
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.88C>T (p.Gln30Ter) rs141577476
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_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)
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.712del (p.Glu238fs) rs1558438591
Single allele

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