NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys)
|
rs1060502934
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu)
|
rs375966384
|
0.00001
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)
|
rs765763906
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)
|
rs587779285
|
0.00001
|
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu)
|
rs63750119
|
0.00001
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
NM_000179.3(MSH6):c.3819T>G (p.Asn1273Lys)
|
rs759642651
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NC_000002.11:g.(?_48018056)_(48018272_?)dup
|
|
|
NC_000002.11:g.(?_48033429)_(48033905_?)del
|
|
|
NC_000002.11:g.(?_48033912)_(48034005_?)del
|
|
|
NC_000002.12:g.(?_47803398)_(47803695_?)dup
|
|
|
NC_000002.12:g.(?_47805433)_(47806875_?)del
|
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.1010dup (p.Leu337fs)
|
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1168_1211dup (p.Asn404fs)
|
|
|
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)
|
rs2104330278
|
|
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
|
|
|
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)
|
rs1251033858
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1295T>G (p.Phe432Cys)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
NM_000179.3(MSH6):c.1316A>G (p.Asp439Gly)
|
rs786202363
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1359del (p.Gly454fs)
|
|
|
NM_000179.3(MSH6):c.136_158del (p.Gly46fs)
|
|
|
NM_000179.3(MSH6):c.1392del (p.Ile464fs)
|
rs2104340974
|
|
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)
|
rs63750909
|
|
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)
|
rs773226008
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)
|
rs1114167803
|
|
NM_000179.3(MSH6):c.1515T>A (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1552dup (p.Thr518fs)
|
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1639del (p.Glu547fs)
|
rs1572723786
|
|
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)
|
rs1553413050
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)
|
rs63749973
|
|
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
|
rs1669365820
|
|
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
|
|
|
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs)
|
rs2104368213
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.185_186del (p.Arg62fs)
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901_1910del (p.Leu634fs)
|
|
|
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)
|
rs1553413288
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1938_1942delinsTATTCTT (p.Lys646fs)
|
|
|
NM_000179.3(MSH6):c.1951_1952dup (p.Gly652fs)
|
rs2104378465
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1972_3439-358del
|
|
|
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter)
|
rs1553413355
|
|
NM_000179.3(MSH6):c.1991_1992del (p.Thr663_Ser664insTer)
|
rs2104380945
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)
|
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)
|
rs587779228
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)
|
rs587779231
|
|
NM_000179.3(MSH6):c.2118T>A (p.Phe706Leu)
|
rs2104389604
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs)
|
rs1669432834
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)
|
rs1558664787
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2299A>C (p.Thr767Pro)
|
|
|
NM_000179.3(MSH6):c.2300C>A (p.Thr767Asn)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2302_2304del (p.Pro768del)
|
rs63750647
|
|
NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)
|
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.2419del (p.Glu807fs)
|
rs1669460814
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
|
|
|
NM_000179.3(MSH6):c.2566_2572del (p.Ile856fs)
|
rs1669481204
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.261-2A>T
|
|
|
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
|
|
|
NM_000179.3(MSH6):c.2646dup (p.Lys883Ter)
|
|
|
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)
|
rs1553414029
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2790dup (p.Ala931fs)
|
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2905T>C (p.Tyr969His)
|
rs1348956744
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
|
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
NM_000179.3(MSH6):c.2977del (p.Glu993fs)
|
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2T>C (p.Met1Thr)
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
|
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3089del (p.Lys1030fs)
|
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3149_3168dup (p.Leu1057_Asp1058insTer)
|
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>C
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-1del
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)
|
rs1558386797
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
NM_000179.3(MSH6):c.336_337dup (p.His113fs)
|
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg)
|
rs1114167697
|
|
NM_000179.3(MSH6):c.3401G>T (p.Gly1134Val)
|
rs1376398586
|
|
NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)
|
|
|
NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)
|
rs63751063
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416G>T (p.Gly1139Val)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3431_3438+107del
|
|
|
NM_000179.3(MSH6):c.3438+1G>A
|
rs267608096
|
|
NM_000179.3(MSH6):c.3438+1G>C
|
|
|
NM_000179.3(MSH6):c.3438+1G>T
|
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3438+2T>G
|
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3455_3487del (p.Val1152_Ala1162del)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)
|
rs1669872142
|
|
NM_000179.3(MSH6):c.3518dup (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3556+2T>G
|
|
|
NM_000179.3(MSH6):c.3556+3_3556+13del
|
rs587779269
|
|
NM_000179.3(MSH6):c.3557-1G>A
|
|
|
NM_000179.3(MSH6):c.3557-1G>C
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-1G>T
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-2A>G
|
|
|
NM_000179.3(MSH6):c.3557-2A>T
|
rs1558390582
|
|
NM_000179.3(MSH6):c.3557-3_3573del
|
rs2104521349
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
|
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3602T>G (p.Leu1201Arg)
|
|
|
NM_000179.3(MSH6):c.3611dup (p.Thr1205fs)
|
|
|
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)
|
rs1114167688
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3631C>T (p.Leu1211Phe)
|
rs2104525825
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_000179.3(MSH6):c.3644_3646+5del
|
|
|
NM_000179.3(MSH6):c.3645_3646+3delinsCGTT
|
|
|
NM_000179.3(MSH6):c.3646+1G>A
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1G>C
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1dup
|
rs1553332768
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
|
|
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3646_3646+3del
|
rs267608106
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3647-37_3684del
|
rs2104535143
|
|
NM_000179.3(MSH6):c.3647-6_3647-1del
|
rs267608112
|
|
NM_000179.3(MSH6):c.364G>T (p.Glu122Ter)
|
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
NM_000179.3(MSH6):c.3691GTT[1] (p.Val1232del)
|
rs587779284
|
|
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup)
|
rs63750523
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3724C>G (p.Arg1242Gly)
|
rs587779285
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del)
|
rs876658650
|
|
NM_000179.3(MSH6):c.3729_3767dup (p.Tyr1256Ter)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)
|
rs1553333093
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
|
|
|
NM_000179.3(MSH6):c.3789_3790insTAGC (p.Leu1264Ter)
|
rs1114167717
|
|
NM_000179.3(MSH6):c.3798_3801+9del
|
rs1553333168
|
|
NM_000179.3(MSH6):c.3801+1G>A
|
|
|
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT
|
rs2104547230
|
|
NM_000179.3(MSH6):c.3801+1_3801+5del
|
rs1553333175
|
|
NM_000179.3(MSH6):c.3801+1del
|
rs1553333185
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3801+2T>G
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3802-14_3809del
|
|
|
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA
|
|
|
NM_000179.3(MSH6):c.3802-1G>A
|
rs1572746025
|
|
NM_000179.3(MSH6):c.3802-1G>C
|
rs1572746025
|
|
NM_000179.3(MSH6):c.3802-1G>T
|
|
|
NM_000179.3(MSH6):c.3802-2A>G
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)
|
rs587779294
|
|
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)
|
rs1553333370
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)
|
rs1114167783
|
|
NM_000179.3(MSH6):c.3849del (p.Thr1284fs)
|
rs1064793781
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3856_3872dup (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)
|
rs1553333594
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3922_3953dup (p.Arg1318fs)
|
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3955_3974dup (p.Met1326fs)
|
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3958_3986dup (p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer)
|
|
|
NM_000179.3(MSH6):c.3961A>T (p.Arg1321Ter)
|
rs41295278
|
|
NM_000179.3(MSH6):c.3970G>C (p.Glu1324Gln)
|
rs540890590
|
|
NM_000179.3(MSH6):c.3971_3983dup (p.Ser1329fs)
|
|
|
NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter)
|
rs1060502937
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter)
|
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.4000_4001insTGTAACTAACTAACTATAATGGAATTATAACTAACTGACCTTAAGTTTCAAAGTGAGAAGATGAATCAGTCACTACGATTATTTC (p.Arg1334delinsLeuTer)
|
rs2104565974
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001+2dup
|
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)
|
|
|
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG
|
rs878853744
|
|
NM_000179.3(MSH6):c.4002-2A>G
|
rs878853745
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.457+1G>A
|
|
|
NM_000179.3(MSH6):c.457+1del
|
rs876661125
|
|
NM_000179.3(MSH6):c.457+2T>G
|
|
|
NM_000179.3(MSH6):c.457G>A (p.Gly153Ser)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-1G>A
|
rs267608035
|
|
NM_000179.3(MSH6):c.458-1G>T
|
rs267608035
|
|
NM_000179.3(MSH6):c.458-2A>C
|
|
|
NM_000179.3(MSH6):c.458-2A>G
|
rs2104227716
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.55del (p.Asp19fs)
|
rs1553408127
|
|
NM_000179.3(MSH6):c.575_583del (p.Glu192_Ala194del)
|
rs1558656674
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.616_627+37delinsC
|
|
|
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)
|
rs1322095633
|
|
NM_000179.3(MSH6):c.627+1G>A
|
rs1572716545
|
|
NM_000179.3(MSH6):c.627+1dup
|
rs2104241415
|
|
NM_000179.3(MSH6):c.627+2_627+11del
|
|
|
NM_000179.3(MSH6):c.628-1G>C
|
rs2104287071
|
|
NM_000179.3(MSH6):c.628-2A>C
|
|
|
NM_000179.3(MSH6):c.628-2A>T
|
rs1114167725
|
|
NM_000179.3(MSH6):c.675dup (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.691del (p.Val231fs)
|
|
|
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)
|
rs1553412120
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.884_885del (p.Lys295fs)
|
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
|
|
|
Single allele
|
|
|