| 1 | MSH2 | NM_000251.2(MSH2): c.932delA (p.Asn311Thrfs) | deletion | Pathogenic | rs587779979 | GRCh37 | Chr 2, 47641547: 47641547 |
| 2 | MSH6 | NM_000179.2(MSH6): c.1367G> A (p.Trp456Ter) | SNV | Pathogenic | rs587780538 | GRCh37 | Chr 2, 48026489: 48026489 |
| 3 | MSH6 | NM_000179.2(MSH6): c.1790dupA (p.Gly599Argfs) | duplication | Pathogenic | rs587780670 | GRCh37 | Chr 2, 48026912: 48026912 |
| 4 | PMS2 | NM_000535.6(PMS2): c.1376C> A (p.Ser459Ter) | SNV | Pathogenic | rs587780724 | GRCh37 | Chr 7, 6027020: 6027020 |
| 5 | PMS2 | NM_000535.6(PMS2): c.904-2A> G | SNV | Likely pathogenic, Pathogenic | rs587781339 | GRCh38 | Chr 7, 5992059: 5992059 |
| 6 | MLH1 | NM_000249.3(MLH1): c.971dupA (p.Arg325Alafs) | duplication | Pathogenic | rs587781554 | GRCh37 | Chr 3, 37061887: 37061887 |
| 7 | PMS2 | NM_000535.6(PMS2): c.325delG (p.Glu109Lysfs) | deletion | Pathogenic | rs587781716 | GRCh37 | Chr 7, 6043349: 6043349 |
| 8 | PMS2 | NM_000535.6(PMS2): c.736_741delCCCCCTins11 (p.?) | indel | Pathogenic | rs267608150 | GRCh37 | Chr 7, 6037019: 6037024 |
| 9 | PMS2 | NM_000535.6(PMS2): c.2117delA (p.Lys706Serfs) | deletion | Pathogenic | rs587782704 | GRCh38 | Chr 7, 5982881: 5982881 |
| 10 | PMS2 | NM_000535.6(PMS2): c.746_753delACTCCGTG (p.Asp249Valfs) | deletion | Pathogenic | rs587782710 | GRCh38 | Chr 7, 5997376: 5997383 |
| 11 | MSH6 | NM_000179.2(MSH6): c.3037_3041delAAGAA (p.Lys1013Valfs) | deletion | Likely pathogenic, Pathogenic | rs587782712 | GRCh38 | Chr 2, 47801020: 47801024 |
| 12 | MLH1 | NM_000249.3(MLH1): c.117-2A> G | SNV | Pathogenic | rs267607712 | GRCh38 | Chr 3, 36996617: 36996617 |
| 13 | EPCAM | NM_002354.2(EPCAM): c.556-14A> G | SNV | Pathogenic | rs376155665 | GRCh38 | Chr 2, 47378939: 47378939 |
| 14 | PMS2 | NM_000535.6(PMS2): c.1144+1G> A | SNV | Likely pathogenic, Pathogenic | rs373885654 | GRCh37 | Chr 7, 6029430: 6029430 |
| 15 | MLH1 | NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) | SNV | Pathogenic | rs63751109 | GRCh37 | Chr 3, 37038124: 37038124 |
| 16 | MLH1 | NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) | deletion | Pathogenic | rs63751247 | GRCh37 | Chr 3, 37089130: 37089132 |
| 17 | MLH1 | NM_000249.3(MLH1): c.986A> C (p.His329Pro) | SNV | Pathogenic | rs63750710 | GRCh37 | Chr 3, 37061902: 37061902 |
| 18 | MLH1 | NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) | SNV | Pathogenic | rs63751615 | GRCh37 | Chr 3, 37053589: 37053589 |
| 19 | MLH1 | NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) | SNV | Pathogenic | rs63750206 | GRCh37 | Chr 3, 37038192: 37038192 |
| 20 | MLH1 | MLH1, EX16DEL | deletion | Pathogenic | | | Chr na, -1: -1 |
| 21 | MLH1 | NM_000249.3(MLH1): c.350C> T (p.Thr117Met) | SNV | Pathogenic | rs63750781 | GRCh37 | Chr 3, 37045935: 37045935 |
| 22 | MLH1 | NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) | SNV | Pathogenic | rs63750899 | GRCh37 | Chr 3, 37090053: 37090053 |
| 23 | MLH1 | NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) | SNV | Pathogenic | rs63750691 | GRCh37 | Chr 3, 37059012: 37059012 |
| 24 | MLH1 | NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) | SNV | Pathogenic | rs63750217 | GRCh37 | Chr 3, 37090446: 37090446 |
| 25 | MLH1 | MLH1, 2-BP DEL, 593AG | deletion | Pathogenic | | | Chr na, -1: -1 |
| 26 | MLH1 | NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) | indel | Pathogenic | rs121912965 | GRCh37 | Chr 3, 37035142: 37035143 |
| 27 | MLH1 | NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) | SNV | Pathogenic | rs63749939 | GRCh37 | Chr 3, 37038193: 37038193 |
| 28 | MSH2 | NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) | SNV | Pathogenic | rs28929483 | GRCh37 | Chr 2, 47702269: 47702269 |
| 29 | MSH2 | NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) | SNV | Pathogenic | rs63751108 | GRCh37 | Chr 2, 47657020: 47657020 |
| 30 | MSH2 | NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) | SNV | Pathogenic | rs28929484 | GRCh37 | Chr 2, 47702319: 47702319 |
| 31 | MSH2 | NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) | deletion | Pathogenic | rs63749831 | GRCh37 | Chr 2, 47702190: 47702192 |
| 32 | MSH2 | NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) | SNV | Pathogenic | rs63750047 | GRCh37 | Chr 2, 47702205: 47702205 |
| 33 | MSH2 | NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) | SNV | Likely pathogenic | rs63751207 | GRCh37 | Chr 2, 47693857: 47693857 |
| 34 | MSH2 | NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) | deletion | Pathogenic | rs63749811 | GRCh37 | Chr 2, 47703613: 47703613 |
| 35 | MSH2 | NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) | duplication | Pathogenic | rs587776529 | GRCh37 | Chr 2, 47635597: 47635618 |
| 36 | MSH2 | NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) | SNV | Pathogenic | rs63750875 | GRCh37 | Chr 2, 47702310: 47702310 |
| 37 | MSH2 | MSH2, EX1-6 DEL | deletion | Pathogenic | | | Chr na, -1: -1 |
| 38 | MSH2 | NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) | deletion | Pathogenic | rs63751449 | GRCh37 | Chr 2, 47637320: 47637320 |
| 39 | MSH2 | MSH2, 32-KB DEL, EX1-6 | deletion | Pathogenic | | | Chr na, -1: -1 |
| 40 | MSH6 | NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter) | SNV | Pathogenic | rs730881816 | GRCh37 | Chr 2, 48026927: 48026927 |
| 41 | MSH6 | NM_000179.2(MSH6): c.3690delA (p.Val1231Leufs) | deletion | Pathogenic | rs730881829 | GRCh38 | Chr 2, 47806247: 47806247 |
| 42 | PMS2 | NM_000535.6(PMS2): c.2T> A (p.Met1Lys) | SNV | Pathogenic | rs587780059 | GRCh38 | Chr 7, 6009018: 6009018 |
| 43 | PMS2 | NM_000535.6(PMS2): c.765C> A (p.Tyr255Ter) | SNV | Pathogenic | rs573125799 | GRCh37 | Chr 7, 6036995: 6036995 |
| 44 | MSH6 | NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) | SNV | Likely pathogenic, Pathogenic | rs786201042 | GRCh37 | Chr 2, 48010382: 48010382 |
| 45 | MSH6 | NM_000179.2(MSH6): c.578delT (p.Leu193Trpfs) | deletion | Pathogenic | rs587782281 | GRCh37 | Chr 2, 48023153: 48023153 |
| 46 | MSH6 | NM_000179.2(MSH6): c.2230dupG (p.Glu744Glyfs) | duplication | Pathogenic | rs786201050 | GRCh37 | Chr 2, 48027352: 48027352 |
| 47 | PMS2 | NM_000535.6(PMS2): c.251-2A> T | SNV | Likely pathogenic, Pathogenic | rs587779340 | GRCh37 | Chr 7, 6043425: 6043425 |
| 48 | MSH6 | NM_000179.2(MSH6): c.3980_3983dupATCA (p.Leu1330Valfs) | duplication | Likely pathogenic, Pathogenic | rs786201855 | GRCh37 | Chr 2, 48033769: 48033772 |
| 49 | MSH6 | NM_000179.2(MSH6): c.989C> A (p.Ser330Ter) | SNV | Pathogenic | rs786202848 | GRCh37 | Chr 2, 48026111: 48026111 |
| 50 | PMS2 | NM_000535.6(PMS2): c.1874delT (p.Leu625Terfs) | deletion | Pathogenic | rs786203073 | GRCh38 | Chr 7, 5986891: 5986891 |
| 51 | MSH6 | NM_000179.2(MSH6): c.2079dupA (p.Cys694Metfs) | duplication | Pathogenic | rs267608083 | GRCh37 | Chr 2, 48027201: 48027201 |
| 52 | EPCAM | NM_002354.2(EPCAM): c.859-?_*(415_?)del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 53 | MSH6 | NM_000179.2(MSH6): c.2144_2145delAC (p.Thr716Serfs) | deletion | Pathogenic | rs786204048 | GRCh37 | Chr 2, 48027266: 48027267 |
| 54 | MSH2 | NM_000251.2(MSH2): c.2281delG (p.Leu762Terfs) | deletion | Pathogenic | rs786204050 | GRCh38 | Chr 2, 47478342: 47478342 |
| 55 | MSH2 | NM_000251.2(MSH2): c.491G> A (p.Gly164Glu) | SNV | Pathogenic | rs786204082 | GRCh38 | Chr 2, 47410218: 47410218 |
| 56 | PMS2 | NM_000535.6(PMS2): c.1185delC (p.Met396Trpfs) | deletion | Pathogenic | rs786204104 | GRCh37 | Chr 7, 6027211: 6027211 |
| 57 | MSH2 | NM_000251.2(MSH2): c.782_783insA (p.Met261Ilefs) | insertion | Pathogenic | rs786204144 | GRCh37 | Chr 2, 47639689: 47639690 |
| 58 | MSH2 | NM_000251.2(MSH2): c.1442T> A (p.Leu481Ter) | SNV | Pathogenic | rs786203036 | GRCh37 | Chr 2, 47690225: 47690225 |
| 59 | MSH6 | NM_000179.2(MSH6): c.1108_1109delTT (p.Leu370Argfs) | deletion | Pathogenic | rs786204252 | GRCh37 | Chr 2, 48026230: 48026231 |
| 60 | MSH2 | NM_000251.2(MSH2): c.261dupT (p.Val89Cysfs) | duplication | Pathogenic | rs786204257 | GRCh38 | Chr 2, 47408450: 47408450 |
| 61 | MLH1 | NM_000249.3(MLH1): c.1_116del116 (p.Met1Phefs) | deletion | Pathogenic | | GRCh38 | Chr 3, 36993548: 36993663 |
| 62 | MLH1 | NM_000249.3(MLH1): c.208_545del | deletion | Pathogenic | | GRCh38 | Chr 3, 37000955: 37008905 |
| 63 | MLH1 | NM_000249.3(MLH1): c.976delG (p.Val326Cysfs) | deletion | Pathogenic | rs786204317 | GRCh37 | Chr 3, 37061892: 37061892 |
| 64 | MSH2 | NM_000251.2(MSH2): c.1278_1386+1del | deletion | Pathogenic | | GRCh38 | Chr 2, 47445549: 47445658 |
| 65 | MSH2 | NM_000251.2(MSH2): c.1984C> T (p.Gln662Ter) | SNV | Pathogenic | rs786204321 | GRCh37 | Chr 2, 47702388: 47702388 |
| 66 | MSH6 | NM_000179.2(MSH6): c.(?_-1)_457+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 48010372: 48018262 |
| 67 | MSH6 | NM_000179.2(MSH6): c.1045C> T (p.Gln349Ter) | SNV | Pathogenic | rs863224473 | GRCh37 | Chr 2, 48026167: 48026167 |
| 68 | MSH6 | NM_000179.2(MSH6): c.1744dupT (p.Arg583Terfs) | duplication | Pathogenic | rs863224474 | GRCh38 | Chr 2, 47799727: 47799727 |
| 69 | MSH6 | NM_000179.2(MSH6): c.2089delG (p.Asp697Ilefs) | deletion | Pathogenic | rs863224475 | GRCh37 | Chr 2, 48027211: 48027211 |
| 70 | MSH6 | NM_000179.2(MSH6): c.3435delA (p.Arg1145Serfs) | deletion | Pathogenic | rs863224476 | GRCh37 | Chr 2, 48030821: 48030821 |
| 71 | MLH1 | NM_000249.3(MLH1): c.1912G> T (p.Gly638Ter) | SNV | Pathogenic | rs63750549 | GRCh37 | Chr 3, 37090023: 37090023 |
| 72 | MLH1 | NM_000249.3(MLH1): c.704_723del20 (p.Lys236Glufs) | deletion | Pathogenic | rs863224480 | GRCh38 | Chr 3, 37014458: 37014477 |
| 73 | MSH2 | NM_000251.2(MSH2): c.(?_-1)_1076+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630330: 47643568 |
| 74 | MSH2 | NM_000251.2(MSH2): c.141_154delCGAGGACGCGCTGC (p.Glu48Glyfs) | deletion | Pathogenic | rs863224481 | GRCh37 | Chr 2, 47630471: 47630484 |
| 75 | MSH2 | NM_000251.2(MSH2): c.1662-?_*(1_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47698104: 47710089 |
| 76 | PMS2 | NM_000535.6(PMS2): c.1239dupA (p.Asp414Argfs) | duplication | Pathogenic | rs758048239 | GRCh38 | Chr 7, 5987526: 5987526 |
| 77 | PMS2 | NM_000535.6(PMS2): c.1297A> T (p.Lys433Ter) | SNV | Pathogenic | rs863224496 | GRCh37 | Chr 7, 6027099: 6027099 |
| 78 | PMS2 | NM_000535.6(PMS2): c.1576delG (p.Asp526Thrfs) | deletion | Pathogenic | rs863224497 | GRCh38 | Chr 7, 5987189: 5987189 |
| 79 | PMS2 | NM_000535.6(PMS2): c.1638_1639delTT (p.Ser547Argfs) | deletion | Pathogenic | rs863224498 | GRCh38 | Chr 7, 5987126: 5987127 |
| 80 | MSH6 | NM_000179.2(MSH6): c.1610_1613delAGTA (p.Lys537Ilefs) | deletion | Pathogenic | rs863224829 | GRCh37 | Chr 2, 48026732: 48026735 |
| 81 | MSH2 | NM_000251.2(MSH2): c.912dupT (p.Ala305Cysfs) | duplication | Pathogenic | rs863224833 | GRCh37 | Chr 2, 47641527: 47641527 |
| 82 | MLH1 | NM_000249.3(MLH1): c.307-?_380+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 83 | MSH6 | NM_000179.2(MSH6): c.3332_3335dupATGA (p.Asp1112Glufs) | duplication | Pathogenic | rs587782562 | GRCh38 | Chr 2, 47803579: 47803582 |
| 84 | MSH6 | NM_000179.2(MSH6): c.3528_3532delACTTG (p.Leu1177Cysfs) | deletion | Likely pathogenic, Pathogenic | rs863225408 | GRCh37 | Chr 2, 48032138: 48032142 |
| 85 | MSH6 | NM_000179.2(MSH6): c.4028C> G (p.Ser1343Ter) | SNV | Pathogenic | rs863225420 | GRCh37 | Chr 2, 48033944: 48033944 |
| 86 | MSH2 | NM_000251.2(MSH2): c.1963_1964delGT (p.Val655Ilefs) | deletion | Pathogenic | rs864622121 | GRCh37 | Chr 2, 47702367: 47702368 |
| 87 | MSH6 | NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter) | SNV | Pathogenic | rs864622153 | GRCh37 | Chr 2, 48026813: 48026813 |
| 88 | MSH2 | NM_000251.2(MSH2): c.748G> T (p.Gly250Ter) | SNV | Pathogenic | rs864622183 | GRCh37 | Chr 2, 47639655: 47639655 |
| 89 | PMS2 | NM_000535.6(PMS2): c.121G> T (p.Glu41Ter) | SNV | Pathogenic | rs3209663 | GRCh38 | Chr 7, 6005934: 6005934 |
| 90 | MSH6 | NM_000179.2(MSH6): c.458-?_3172+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 91 | MSH6 | NM_000179.2(MSH6): c.2136delG (p.Asp713Ilefs) | deletion | Pathogenic | rs864622257 | GRCh37 | Chr 2, 48027258: 48027258 |
| 92 | MSH2 | NM_000251.2(MSH2): c.819_821delAATinsTG (p.Ile274Alafs) | indel | Pathogenic | rs864622261 | GRCh37 | Chr 2, 47641434: 47641436 |
| 93 | PMS2 | NM_000535.6(PMS2): c.538-?_903+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 94 | MSH2 | NM_000251.2(MSH2): c.842C> G (p.Ser281Ter) | SNV | Pathogenic | rs63749991 | GRCh37 | Chr 2, 47641457: 47641457 |
| 95 | MSH2 | NM_000251.2(MSH2): c.1023delT (p.Val342Leufs) | deletion | Pathogenic | rs864622340 | GRCh37 | Chr 2, 47643515: 47643515 |
| 96 | MLH1 | NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter) | SNV | Pathogenic | rs267607823 | GRCh38 | Chr 3, 37025844: 37025844 |
| 97 | EPCAM | NM_002354.2(EPCAM): c.491+1G> T | SNV | Pathogenic | rs606231203 | GRCh37 | Chr 2, 47602439: 47602439 |
| 98 | MSH6 | NM_000179.2(MSH6): c.3526A> T (p.Arg1176Ter) | SNV | Pathogenic | rs786203968 | GRCh38 | Chr 2, 47804997: 47804997 |
| 99 | MSH6 | NM_000179.2(MSH6): c.1387G> T (p.Glu463Ter) | SNV | Pathogenic | rs864622435 | GRCh38 | Chr 2, 47799370: 47799370 |
| 100 | MSH2 | NM_000251.2(MSH2): c.1563T> A (p.Tyr521Ter) | SNV | Pathogenic | rs63750330 | GRCh37 | Chr 2, 47693849: 47693849 |
| 101 | MSH2 | NM_000251.2(MSH2): c.421_422delAT (p.Met141Valfs) | deletion | Pathogenic | rs863224482 | GRCh37 | Chr 2, 47637287: 47637288 |
| 102 | MSH6 | NM_000179.2(MSH6): c.2308_2312delGGTAAinsT (p.Gly770Cysfs) | indel | Pathogenic | rs864622585 | GRCh37 | Chr 2, 48027430: 48027434 |
| 103 | PMS2 | NM_000535.6(PMS2): c.1750dupA (p.Ile584Asnfs) | duplication | Pathogenic | rs864622600 | GRCh37 | Chr 7, 6026646: 6026646 |
| 104 | MLH1 | NM_000249.3(MLH1): c.25_26delCGinsTA (p.Arg9Ter) | indel | Pathogenic | rs869312767 | GRCh37 | Chr 3, 37035063: 37035064 |
| 105 | MSH2 | NM_000251.2(MSH2): c.1201_1202dupTT (p.Leu401Phefs) | duplication | Pathogenic | rs869312768 | GRCh37 | Chr 2, 47657005: 47657006 |
| 106 | MSH6 | NM_000179.2(MSH6): c.1352delT (p.Phe451Serfs) | deletion | Pathogenic | rs869312769 | GRCh37 | Chr 2, 48026474: 48026474 |
| 107 | MSH6 | NM_000179.2(MSH6): c.2848_2849delAG (p.Ser950Profs) | deletion | Pathogenic | rs869312770 | GRCh38 | Chr 2, 47800831: 47800832 |
| 108 | PMS2 | NM_000535.6(PMS2): c.1500delC (p.Val501Trpfs) | deletion | Pathogenic | rs759151952 | GRCh37 | Chr 7, 6026896: 6026896 |
| 109 | MSH2 | NM_000251.2(MSH2): c.1384C> T (p.Gln462Ter) | SNV | Pathogenic | rs876657701 | GRCh38 | Chr 2, 47445655: 47445655 |
| 110 | PMS2 | NM_000535.6(PMS2): c.851C> G (p.Ser284Ter) | SNV | Pathogenic | rs587782898 | GRCh38 | Chr 7, 5995586: 5995586 |
| 111 | MSH6 | NM_000179.2(MSH6): c.2645_2653delTTAAGTCTA (p.Phe882_Thr1219delinsTer) | deletion | Pathogenic | rs876660630 | GRCh37 | Chr 2, 48027767: 48027775 |
| 112 | PMS2 | NM_000535.6(PMS2): c.2445+1G> T | SNV | Pathogenic | rs876661113 | GRCh38 | Chr 7, 5977587: 5977587 |
| 113 | MSH6 | NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs) | deletion | Pathogenic | rs878853702 | GRCh37 | Chr 2, 48026472: 48026473 |
| 114 | MSH6 | NM_000179.2(MSH6): c.1570_1571insC (p.Tyr524Serfs) | insertion | Pathogenic | rs878853709 | GRCh37 | Chr 2, 48026692: 48026693 |
| 115 | MSH6 | NM_000179.2(MSH6): c.2056_2060delGGTTGinsCTTCTACCTCAAAAA (p.Gly686Leufs) | indel | Pathogenic | rs878853711 | GRCh38 | Chr 2, 47800039: 47800043 |
| 116 | MSH6 | NM_000179.2(MSH6): c.2680C> T (p.Gln894Ter) | SNV | Pathogenic | rs878853718 | GRCh38 | Chr 2, 47800663: 47800663 |
| 117 | MSH6 | NM_000179.2(MSH6): c.2804_2805delCT (p.Ser935Terfs) | deletion | Pathogenic | rs878853721 | GRCh37 | Chr 2, 48027926: 48027927 |
| 118 | MSH6 | NM_000179.2(MSH6): c.3163dupG (p.Ala1055Glyfs) | duplication | Pathogenic | rs878853729 | GRCh38 | Chr 2, 47801146: 47801146 |
| 119 | MSH6 | NM_000179.2(MSH6): c.3477C> G (p.Tyr1159Ter) | SNV | Pathogenic | rs398123231 | GRCh38 | Chr 2, 47804948: 47804948 |
| 120 | MSH6 | NM_000179.2(MSH6): c.3717_3721dupAAAAT (p.Cys1241Terfs) | duplication | Pathogenic | rs878853736 | GRCh38 | Chr 2, 47806274: 47806278 |
| 121 | MSH6 | NM_000179.2(MSH6): c.3864dupA (p.Phe1289Ilefs) | duplication | Pathogenic | rs878853739 | GRCh37 | Chr 2, 48033653: 48033653 |
| 122 | MSH6 | NM_000179.2(MSH6): c.741delA (p.Lys247Asnfs) | deletion | Pathogenic | rs267608041 | GRCh37 | Chr 2, 48025863: 48025863 |
| 123 | MLH1 | NM_000249.3(MLH1): c.1441delA (p.Met481Trpfs) | deletion | Pathogenic | rs878853777 | GRCh37 | Chr 3, 37070306: 37070306 |
| 124 | MLH1 | NM_000249.3(MLH1): c.1456dupT (p.Ser486Phefs) | duplication | Pathogenic | rs878853778 | GRCh37 | Chr 3, 37070321: 37070321 |
| 125 | MLH1 | NM_000249.3(MLH1): c.2044_2045delAT (p.Met682Valfs) | deletion | Pathogenic | rs878853785 | GRCh37 | Chr 3, 37090449: 37090450 |
| 126 | MLH1 | NM_000249.3(MLH1): c.38dupA (p.Thr14Aspfs) | duplication | Pathogenic | rs63750057 | GRCh37 | Chr 3, 37035076: 37035076 |
| 127 | MLH1 | NM_000249.3(MLH1): c.826dupA (p.Ile276Asnfs) | duplication | Pathogenic | rs878853792 | GRCh37 | Chr 3, 37059032: 37059032 |
| 128 | MLH1 | NM_000249.3(MLH1): c.961_962dupAG (p.Ser321Argfs) | duplication | Pathogenic | rs878853794 | GRCh37 | Chr 3, 37061877: 37061878 |
| 129 | MSH2 | NM_000251.2(MSH2): c.1404_1410delCCTTGTA (p.Phe468Leufs) | deletion | Pathogenic | rs878853802 | GRCh38 | Chr 2, 47463048: 47463054 |
| 130 | MSH2 | NM_000251.2(MSH2): c.2150_2153delGTCA (p.Ser717Asnfs) | deletion | Pathogenic | rs878853809 | GRCh37 | Chr 2, 47703650: 47703653 |
| 131 | MSH2 | NM_000251.2(MSH2): c.340G> T (p.Glu114Ter) | SNV | Pathogenic | rs878853815 | GRCh38 | Chr 2, 47408529: 47408529 |
| 132 | MSH2 | NM_000251.2(MSH2): c.790C> T (p.Gln264Ter) | SNV | Pathogenic | rs878853824 | GRCh37 | Chr 2, 47639697: 47639697 |
| 133 | PMS2 | NM_000535.6(PMS2): c.1500dupC (p.Val501Argfs) | duplication | Pathogenic | rs878854035 | GRCh38 | Chr 7, 5987265: 5987265 |
| 134 | PMS2 | NM_000535.6(PMS2): c.1591G> T (p.Glu531Ter) | SNV | Pathogenic | rs878854037 | GRCh37 | Chr 7, 6026805: 6026805 |
| 135 | PMS2 | NM_000535.6(PMS2): c.2276-?_*160+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 136 | PMS2 | NM_000535.6(PMS2): c.947_948delAC (p.His316Profs) | deletion | Pathogenic | rs878854060 | GRCh38 | Chr 7, 5992013: 5992014 |
| 137 | EPCAM | NM_002354.2(EPCAM): c.133C> T (p.Gln45Ter) | SNV | Pathogenic | rs878854485 | GRCh37 | Chr 2, 47600658: 47600658 |
| 138 | EPCAM | NM_002354.2(EPCAM): c.429G> A (p.Trp143Ter) | SNV | Pathogenic | rs878854488 | GRCh38 | Chr 2, 47375237: 47375237 |
| 139 | EPCAM | NM_002354.2(EPCAM): c.523C> T (p.Gln175Ter) | SNV | Pathogenic | rs878854491 | GRCh37 | Chr 2, 47604184: 47604184 |
| 140 | MSH6 | NM_000179.2(MSH6): c.458-?_4001+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 141 | MSH2 | NM_000251.2(MSH2): c.-125-?_645+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 142 | PMS2 | NM_000535.6(PMS2): c.-87_537+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 143 | MSH2 | NM_000251.2(MSH2): c.-125-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 144 | PMS2 | NM_000535.6(PMS2): c.164-?_2006+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 145 | PMS2 | NC_000007.14: g.(?_5986753)_(6009025_?)del | deletion | Pathogenic | | GRCh38 | Chr 7, 5986753: 6009025 |
| 146 | MSH2 | NM_000251.2(MSH2): c.367-?_645+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47637233: 47637511 |
| 147 | MSH2 | NM_000251.2(MSH2): c.1077-?_1276+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47656881: 47657080 |
| 148 | PMS2 | NM_000535.6(PMS2): c.989-?_1144+?del | deletion | Pathogenic | | GRCh37 | Chr 7, 6029431: 6029586 |
| 149 | MSH2 | NM_000251.2(MSH2): c.1387-?_1510+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47690170: 47690293 |
| 150 | PMS2 | NM_000535.6(PMS2): c.2276-?_2445+?del | deletion | Pathogenic | | GRCh38 | Chr 7, 5977588: 5977757 |
| 151 | MLH1 | NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) | SNV | Pathogenic | rs63751194 | GRCh37 | Chr 3, 37058999: 37058999 |
| 152 | MLH1 | NM_000249.3(MLH1): c.1865T> A (p.Leu622His) | SNV | Pathogenic | rs63750693 | GRCh37 | Chr 3, 37089143: 37089143 |
| 153 | MLH1 | NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) | SNV | Pathogenic | rs63750540 | GRCh37 | Chr 3, 37067470: 37067470 |
| 154 | MLH1 | NM_000249.3(MLH1): c.298C> T (p.Arg100Ter) | SNV | Pathogenic | rs63751221 | GRCh37 | Chr 3, 37042536: 37042536 |
| 155 | MLH1 | NM_000249.3(MLH1): c.454-1G> A | SNV | Pathogenic | rs193922370 | GRCh37 | Chr 3, 37050304: 37050304 |
| 156 | MSH2 | NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter) | SNV | Pathogenic | rs63750245 | GRCh37 | Chr 2, 47643522: 47643522 |
| 157 | MSH2 | NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs) | deletion | Pathogenic | rs63750393 | GRCh37 | Chr 2, 47698147: 47698148 |
| 158 | MSH2 | NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter) | SNV | Pathogenic | rs63749932 | GRCh37 | Chr 2, 47703538: 47703538 |
| 159 | MSH2 | NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs) | duplication | Likely pathogenic, Pathogenic | rs193922375 | GRCh37 | Chr 2, 47641475: 47641475 |
| 160 | MSH2 | NM_000251.2(MSH2): c.942+3A> T | SNV | Pathogenic | rs193922376 | GRCh37 | Chr 2, 47641560: 47641560 |
| 161 | MSH6 | NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) | deletion | Pathogenic | rs193922343 | GRCh37 | Chr 2, 48033395: 48033398 |
| 162 | MSH6 | NM_000179.2(MSH6): c.3173-1G> C | SNV | Likely pathogenic, Pathogenic | rs397515875 | GRCh37 | Chr 2, 48030558: 48030558 |
| 163 | MSH6 | NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) | SNV | Pathogenic | rs267608094 | GRCh37 | Chr 2, 48033780: 48033780 |
| 164 | MLH3 | NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) | SNV | Pathogenic | rs28756990 | GRCh37 | Chr 14, 75514138: 75514138 |
| 165 | MSH6 | NM_000179.2(MSH6): c.(?_-152)_(*93_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 48010221: 48034092 |
| 166 | MSH6 | NM_000179.2(MSH6): c.(?_-152)_457+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 48010221: 48018262 |
| 167 | MSH6 | NM_000179.2(MSH6): c.-11863_457+1921del | deletion | Pathogenic | | NCBI36 | Chr 2, 47852014: 47873687 |
| 168 | MSH6 | NM_000179.2(MSH6): c.-3097_457+2010del | deletion | Pathogenic | | GRCh37 | Chr 2, 48007276: 48020272 |
| 169 | MSH6 | NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs) | deletion | Pathogenic | rs267608056 | GRCh37 | Chr 2, 48026207: 48026207 |
| 170 | MSH6 | NM_000179.2(MSH6): c.1101delT (p.His367Glnfs) | deletion | Pathogenic | rs587779203 | GRCh37 | Chr 2, 48026223: 48026223 |
| 171 | MSH6 | NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs) | deletion | Pathogenic | rs267608077 | GRCh37 | Chr 2, 48026257: 48026261 |
| 172 | MSH6 | NM_000179.2(MSH6): c.1139_1143delATGAG (p.Asp380Alafs) | deletion | Pathogenic | rs587779206 | GRCh37 | Chr 2, 48026261: 48026265 |
| 173 | MSH6 | NM_000179.2(MSH6): c.1190_1191delAT (p.Tyr397Cysfs) | deletion | Pathogenic | rs63750439 | GRCh37 | Chr 2, 48026312: 48026313 |
| 174 | MSH6 | NM_000179.2(MSH6): c.1193T> A (p.Val398Glu) | SNV | Pathogenic | rs587779208 | GRCh37 | Chr 2, 48026315: 48026315 |
| 175 | MSH6 | NM_000179.2(MSH6): c.1276delT (p.Cys426Valfs) | deletion | Pathogenic | rs587779209 | GRCh37 | Chr 2, 48026398: 48026398 |
| 176 | MSH6 | NM_000179.2(MSH6): c.1299T> A (p.Tyr433Ter) | SNV | Pathogenic | rs267608055 | GRCh37 | Chr 2, 48026421: 48026421 |
| 177 | MSH6 | NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro) | SNV | Pathogenic | rs63750741 | GRCh37 | Chr 2, 48026468: 48026468 |
| 178 | MSH6 | NM_000179.2(MSH6): c.1421_1422dupTG (p.Gln475Cysfs) | duplication | Pathogenic | rs63750854 | GRCh37 | Chr 2, 48026543: 48026544 |
| 179 | MSH6 | NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter) | SNV | Pathogenic | rs63750909 | GRCh37 | Chr 2, 48026566: 48026566 |
| 180 | MSH6 | NM_000179.2(MSH6): c.1477G> T (p.Glu493Ter) | SNV | Pathogenic | rs267608046 | GRCh37 | Chr 2, 48026599: 48026599 |
| 181 | MSH6 | NM_000179.2(MSH6): c.1483C> T (p.Arg495Ter) | SNV | Pathogenic | rs587779212 | GRCh37 | Chr 2, 48026605: 48026605 |
| 182 | MSH6 | NM_000179.2(MSH6): c.1572C> G (p.Tyr524Ter) | SNV | Pathogenic | rs587779215 | GRCh37 | Chr 2, 48026694: 48026694 |
| 183 | MSH6 | NM_000179.2(MSH6): c.1580delT (p.Leu527Argfs) | deletion | Pathogenic | rs63751090 | GRCh37 | Chr 2, 48026702: 48026702 |
| 184 | MSH6 | NM_000179.2(MSH6): c.1590delT (p.Ser532Leufs) | deletion | Pathogenic | rs587779216 | GRCh37 | Chr 2, 48026712: 48026712 |
| 185 | MSH6 | NM_000179.2(MSH6): c.1596dupT (p.Glu533Terfs) | duplication | Pathogenic | rs587779217 | GRCh37 | Chr 2, 48026718: 48026718 |
| 186 | MSH6 | NM_000179.2(MSH6): c.1614_1615delTCinsAG (p.Tyr538Ter) | indel | Pathogenic | rs267608049 | GRCh37 | Chr 2, 48026736: 48026737 |
| 187 | MSH6 | NM_000179.2(MSH6): c.1614_1615delTCinsG (p.Tyr538Terfs) | indel | Pathogenic | rs587779218 | GRCh37 | Chr 2, 48026736: 48026737 |
| 188 | MSH6 | NM_000179.2(MSH6): c.1628_1629delAA (p.Lys543Argfs) | deletion | Pathogenic | rs587779219 | GRCh37 | Chr 2, 48026750: 48026751 |
| 189 | MSH6 | NM_000179.2(MSH6): c.1632_1635delAAAA (p.Lys545Argfs) | deletion | Pathogenic | rs267608064 | GRCh37 | Chr 2, 48026754: 48026757 |
| 190 | MSH6 | NM_000179.2(MSH6): c.1634_1637delAAGA (p.Lys545Argfs) | deletion | Pathogenic | rs63749874 | GRCh37 | Chr 2, 48026756: 48026759 |
| 191 | MSH6 | NM_000179.2(MSH6): c.1637_1638delAG (p.Glu546Glyfs) | deletion | Pathogenic | rs267608076 | GRCh37 | Chr 2, 48026759: 48026760 |
| 192 | MSH6 | NM_000179.2(MSH6): c.1784delT (p.Leu595Tyrfs) | deletion | Pathogenic | rs267608050 | GRCh37 | Chr 2, 48026906: 48026906 |
| 193 | MSH6 | NM_000179.2(MSH6): c.1806_1809delAAAG (p.Glu604Leufs) | deletion | Pathogenic | rs63750735 | GRCh37 | Chr 2, 48026928: 48026931 |
| 194 | MSH6 | NM_000179.2(MSH6): c.1819dupA (p.Thr607Asnfs) | duplication | Pathogenic | rs587779221 | GRCh37 | Chr 2, 48026941: 48026941 |
| 195 | MSH6 | NM_000179.2(MSH6): c.1835C> A (p.Ser612Ter) | SNV | Pathogenic | rs63750564 | GRCh37 | Chr 2, 48026957: 48026957 |
| 196 | MSH6 | NM_000179.2(MSH6): c.1869delC (p.Gly624Alafs) | deletion | Pathogenic | rs71539659 | GRCh37 | Chr 2, 48026991: 48026991 |
| 197 | MSH6 | NM_000179.2(MSH6): c.1901_1902delTG (p.Leu634Terfs) | deletion | Pathogenic | rs267608082 | GRCh37 | Chr 2, 48027023: 48027024 |
| 198 | MSH6 | NM_000179.2(MSH6): c.1957_1960dupGTGA (p.Met654Serfs) | duplication | Pathogenic | rs63751167 | GRCh37 | Chr 2, 48027079: 48027082 |
| 199 | MSH6 | NM_000179.2(MSH6): c.2045_2046delCT (p.Ser682Cysfs) | deletion | Pathogenic | rs267608057 | GRCh37 | Chr 2, 48027167: 48027168 |
| 200 | MSH6 | NM_000179.2(MSH6): c.2050_2051dupCT (p.Gly685Terfs) | duplication | Pathogenic | rs587779226 | GRCh37 | Chr 2, 48027172: 48027173 |
| 201 | MSH6 | NM_000179.2(MSH6): c.2061T> A (p.Cys687Ter) | SNV | Pathogenic | rs267608068 | GRCh37 | Chr 2, 48027183: 48027183 |
| 202 | MSH6 | NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs) | deletion | Pathogenic | rs63750075 | GRCh37 | Chr 2, 48027184: 48027185 |
| 203 | MSH6 | NM_000179.2(MSH6): c.2105C> G (p.Ser702Ter) | SNV | Pathogenic | rs63751419 | GRCh37 | Chr 2, 48027227: 48027227 |
| 204 | MSH6 | NM_000179.2(MSH6): c.2127T> A (p.Tyr709Ter) | SNV | Pathogenic | rs587779232 | GRCh37 | Chr 2, 48027249: 48027249 |
| 205 | MSH6 | NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs) | deletion | Pathogenic | rs267608058 | GRCh37 | Chr 2, 48027272: 48027275 |
| 206 | MSH6 | NM_000179.2(MSH6): c.2191C> T (p.Gln731Ter) | SNV | Pathogenic | rs63751442 | GRCh37 | Chr 2, 48027313: 48027313 |
| 207 | MSH6 | NM_000179.2(MSH6): c.2194C> T (p.Arg732Ter) | SNV | Pathogenic | rs63751127 | GRCh37 | Chr 2, 48027316: 48027316 |
| 208 | MSH6 | NM_000179.2(MSH6): c.2330G> A (p.Trp777Ter) | SNV | Pathogenic | rs587779234 | GRCh37 | Chr 2, 48027452: 48027452 |
| 209 | MSH6 | NM_000179.2(MSH6): c.2348_2349delGT (p.Cys783Terfs) | deletion | Pathogenic | rs267608065 | GRCh37 | Chr 2, 48027470: 48027471 |
| 210 | MSH6 | NM_000179.2(MSH6): c.2379_2380delTG (p.Ala794Hisfs) | deletion | Pathogenic | rs587779237 | GRCh37 | Chr 2, 48027501: 48027502 |
| 211 | MSH6 | NM_000179.2(MSH6): c.2503C> T (p.Gln835Ter) | SNV | Pathogenic | rs63751321 | GRCh37 | Chr 2, 48027625: 48027625 |
| 212 | MSH6 | NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs) | duplication | Pathogenic | rs587779241 | GRCh37 | Chr 2, 48027657: 48027657 |
| 213 | MSH6 | NM_000179.2(MSH6): c.2569_2572delGATT (p.Asp857Phefs) | deletion | Pathogenic | rs587779243 | GRCh37 | Chr 2, 48027691: 48027694 |
| 214 | MSH6 | NM_000179.2(MSH6): c.2611_2614dupATTA (p.Ile872Asnfs) | duplication | Pathogenic | rs63750357 | GRCh37 | Chr 2, 48027733: 48027736 |
| 215 | MSH6 | NM_000179.2(MSH6): c.2672_2674delTCTinsC (p.Ile891Thrfs) | indel | Pathogenic | rs587779244 | GRCh37 | Chr 2, 48027794: 48027796 |
| 216 | MSH6 | NM_000179.2(MSH6): c.2714T> A (p.Leu905Ter) | SNV | Pathogenic | rs587779245 | GRCh37 | Chr 2, 48027836: 48027836 |
| 217 | MSH6 | NM_000179.2(MSH6): c.2719_2720delGT (p.Val907Argfs) | deletion | Pathogenic | rs63750904 | GRCh37 | Chr 2, 48027841: 48027842 |
| 218 | MSH6 | NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) | SNV | Pathogenic | rs63751017 | GRCh37 | Chr 2, 48027853: 48027853 |
| 219 | MSH6 | NM_000179.2(MSH6): c.2764C> T (p.Arg922Ter) | SNV | Pathogenic | rs587779246 | GRCh37 | Chr 2, 48027886: 48027886 |
| 220 | MSH6 | NM_000179.2(MSH6): c.2765delG (p.Arg922Glnfs) | deletion | Pathogenic | rs587779247 | GRCh37 | Chr 2, 48027887: 48027887 |
| 221 | MSH6 | NM_000179.2(MSH6): c.2768dupA (p.Thr924Aspfs) | duplication | Pathogenic | rs267608063 | GRCh37 | Chr 2, 48027890: 48027890 |
| 222 | MSH6 | NM_000179.2(MSH6): c.2815C> T (p.Gln939Ter) | SNV | Pathogenic | rs63750140 | GRCh37 | Chr 2, 48027937: 48027937 |
| 223 | MSH6 | NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) | duplication | Pathogenic | rs63750955 | GRCh38 | Chr 2, 47798634: 47798634 |
| 224 | MSH6 | NM_000179.2(MSH6): c.2851_2858delCTCCTGGA (p.Leu951Ilefs) | deletion | Pathogenic | rs63750940 | GRCh37 | Chr 2, 48027973: 48027980 |
| 225 | MSH6 | NM_000179.2(MSH6): c.2931C> G (p.Tyr977Ter) | SNV | Pathogenic | rs63750111 | GRCh37 | Chr 2, 48028053: 48028053 |
| 226 | MSH6 | NM_000179.2(MSH6): c.2945delC (p.Pro982Leufs) | deletion | Pathogenic | rs587779250 | GRCh37 | Chr 2, 48028067: 48028067 |
| 227 | MSH6 | NM_000179.2(MSH6): c.2976delA (p.Glu993Asnfs) | deletion | Pathogenic | rs587779251 | GRCh37 | Chr 2, 48028098: 48028098 |
| 228 | MSH6 | NM_000179.2(MSH6): c.2983G> T (p.Glu995Ter) | SNV | Pathogenic | rs63750258 | GRCh37 | Chr 2, 48028105: 48028105 |
| 229 | MSH6 | NM_000179.2(MSH6): c.2984delA (p.Glu995Glyfs) | deletion | Pathogenic | rs63749938 | GRCh37 | Chr 2, 48028106: 48028106 |
| 230 | MSH6 | NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter) | SNV | Pathogenic | rs63750563 | GRCh37 | Chr 2, 48028135: 48028135 |
| 231 | MSH6 | NM_000179.2(MSH6): c.3020G> A (p.Trp1007Ter) | SNV | Pathogenic | rs587779252 | GRCh37 | Chr 2, 48028142: 48028142 |
| 232 | MSH6 | NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs) | deletion | Pathogenic | rs63751407 | GRCh37 | Chr 2, 48028175: 48028176 |
| 233 | MSH6 | NM_000179.2(MSH6): c.3067G> T (p.Glu1023Ter) | SNV | Pathogenic | rs267608059 | GRCh37 | Chr 2, 48028189: 48028189 |
| 234 | MSH6 | NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter) | SNV | Pathogenic | rs63749999 | GRCh37 | Chr 2, 48028225: 48028225 |
| 235 | MSH6 | NM_000179.2(MSH6): c.3119_3120delTT (p.Phe1040Terfs) | deletion | Pathogenic | rs267608042 | GRCh37 | Chr 2, 48028241: 48028242 |
| 236 | MSH6 | NM_000179.2(MSH6): c.3155_3156delAG (p.Glu1052Valfs) | deletion | Pathogenic | rs63750833 | GRCh37 | Chr 2, 48028277: 48028278 |
| 237 | MSH6 | NM_000179.2(MSH6): c.3172+1G> T | SNV | Likely pathogenic | rs587779255 | GRCh37 | Chr 2, 48028295: 48028295 |
| 238 | MSH6 | NM_000179.2(MSH6): c.3173-1_3173del | deletion | Pathogenic | rs587779256 | GRCh37 | Chr 2, 48030558: 48030559 |
| 239 | MSH6 | NM_000179.2(MSH6): c.3173-433_3556+228del | deletion | Pathogenic | | GRCh37 | Chr 2, 48030126: 48032394 |
| 240 | MSH6 | NM_000179.2(MSH6): c.3182delT (p.Leu1061Argfs) | deletion | Pathogenic | rs63750196 | GRCh37 | Chr 2, 48030568: 48030568 |
| 241 | MSH6 | NM_000179.2(MSH6): c.3195_3198delCTAT (p.Asn1065Lysfs) | deletion | Pathogenic | rs267608085 | GRCh37 | Chr 2, 48030581: 48030584 |
| 242 | MSH6 | NM_000179.2(MSH6): c.3198_3199dupTA (p.Ser1067Ilefs) | duplication | Pathogenic | rs63749821 | GRCh37 | Chr 2, 48030584: 48030585 |
| 243 | MSH6 | NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter) | SNV | Pathogenic | rs63749843 | GRCh37 | Chr 2, 48030588: 48030588 |
| 244 | MSH6 | NM_000179.2(MSH6): c.3221delT (p.Met1074Serfs) | deletion | Pathogenic | rs267608090 | GRCh37 | Chr 2, 48030607: 48030607 |
| 245 | MSH6 | NM_000179.2(MSH6): c.3259_3260insT (p.Pro1087Leufs) | insertion | Pathogenic | rs587779258 | GRCh37 | Chr 2, 48030645: 48030646 |
| 246 | MSH6 | NM_000179.2(MSH6): c.3261delC (p.Phe1088Serfs) | deletion | Pathogenic | rs267608078 | GRCh37 | Chr 2, 48030647: 48030647 |
| 247 | MSH6 | NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs) | duplication | Pathogenic | rs267608087 | GRCh37 | Chr 2, 48030647: 48030647 |
| 248 | MSH6 | NM_000179.2(MSH6): c.3263dupT (p.Glu1090Argfs) | duplication | Pathogenic | rs267608091 | GRCh37 | Chr 2, 48030649: 48030649 |
| 249 | MSH6 | NM_000179.2(MSH6): c.3268_3274delGAGCTTA (p.Glu1090Lysfs) | deletion | Pathogenic | rs587779259 | GRCh37 | Chr 2, 48030654: 48030660 |
| 250 | MSH6 | NM_000179.2(MSH6): c.3273dupT (p.Lys1092Terfs) | duplication | Pathogenic | rs267608095 | GRCh37 | Chr 2, 48030659: 48030659 |
| 251 | MSH6 | NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) | deletion | Pathogenic | rs267608092 | GRCh37 | Chr 2, 48030697: 48030698 |
| 252 | MSH6 | NM_000179.2(MSH6): c.3312delT (p.Phe1104Leufs) | deletion | Pathogenic | rs267608093 | GRCh37 | Chr 2, 48030698: 48030698 |
| 253 | MSH6 | NM_000179.2(MSH6): c.3320delA (p.Asp1107Valfs) | deletion | Pathogenic | rs63750377 | GRCh37 | Chr 2, 48030706: 48030706 |
| 254 | MSH6 | NM_000179.2(MSH6): c.3324dupT (p.Ile1109Tyrfs) | duplication | Pathogenic | rs267608088 | GRCh37 | Chr 2, 48030710: 48030710 |
| 255 | MSH6 | NM_000179.2(MSH6): c.3341_3342insC (p.Ile1115Asnfs) | insertion | Pathogenic | rs587779260 | GRCh37 | Chr 2, 48030727: 48030728 |
| 256 | MSH6 | NM_000179.2(MSH6): c.3355G> T (p.Glu1119Ter) | SNV | Pathogenic | rs267608084 | GRCh37 | Chr 2, 48030741: 48030741 |
| 257 | MSH6 | NM_000179.2(MSH6): c.3367G> T (p.Glu1123Ter) | SNV | Pathogenic | rs267608086 | GRCh37 | Chr 2, 48030753: 48030753 |
| 258 | MSH6 | NM_000179.2(MSH6): c.3379_3438+5del65 | deletion | Pathogenic | | GRCh37 | Chr 2, 48030765: 48030829 |
| 259 | MSH6 | NM_000179.2(MSH6): c.3436C> T (p.Gln1146Ter) | SNV | Pathogenic | rs63750356 | GRCh37 | Chr 2, 48030822: 48030822 |
| 260 | MSH6 | NM_000179.2(MSH6) | insertion | Pathogenic | | | Chr na, -1: -1 |
| 261 | MSH6 | NM_000179.2(MSH6): c.3439-1G> T | SNV | Likely pathogenic | rs587779263 | GRCh37 | Chr 2, 48032048: 48032048 |
| 262 | MSH6 | NM_000179.2(MSH6): c.3439-2A> G | SNV | Likely pathogenic | rs267608098 | GRCh37 | Chr 2, 48032047: 48032047 |
| 263 | MSH6 | NM_000179.2(MSH6): c.3487G> T (p.Glu1163Ter) | SNV | Pathogenic | rs587779267 | GRCh37 | Chr 2, 48032097: 48032097 |
| 264 | MSH6 | NM_000179.2(MSH6): c.3511_3512delGA (p.Asp1171Terfs) | deletion | Pathogenic | rs63751410 | GRCh37 | Chr 2, 48032121: 48032122 |
| 265 | MSH6 | NM_000179.2(MSH6): c.3513_3514delTA (p.Asp1171Glufs) | deletion | Pathogenic | rs63750194 | GRCh37 | Chr 2, 48032123: 48032124 |
| 266 | MSH6 | NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs) | duplication | Pathogenic | rs63751327 | GRCh37 | Chr 2, 48032124: 48032124 |
| 267 | MSH6 | NM_000179.2(MSH6): c.3516_3519delAGTG (p.Arg1172Serfs) | deletion | Pathogenic | rs267608099 | GRCh37 | Chr 2, 48032126: 48032129 |
| 268 | MSH6 | NM_000179.2(MSH6): c.3519_3520insA (p.Phe1174Ilefs) | insertion | Pathogenic | rs63750296 | GRCh37 | Chr 2, 48032129: 48032130 |
| 269 | MSH6 | NM_000179.2(MSH6): c.3519_3522dupGTTT (p.Thr1175Valfs) | duplication | Pathogenic | rs267608101 | GRCh37 | Chr 2, 48032129: 48032132 |
| 270 | MSH6 | NM_000179.2(MSH6): c.3557-?_(*93_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 48032167: 48034093 |
| 271 | MSH6 | NM_000179.2(MSH6): c.3609_3612delTGCA (p.His1203Glnfs) | deletion | Pathogenic | rs587779274 | GRCh37 | Chr 2, 48032809: 48032812 |
| 272 | MSH6 | NM_000179.2(MSH6): c.3635dupT (p.Asp1213Glyfs) | duplication | Pathogenic | rs63750731 | GRCh37 | Chr 2, 48032835: 48032835 |
| 273 | MSH6 | NM_000179.2(MSH6): c.3647-1G> A | SNV | Pathogenic | rs587779279 | GRCh37 | Chr 2, 48033342: 48033342 |
| 274 | MSH6 | NM_000179.2(MSH6): c.3647-2A> C | SNV | Pathogenic | rs267608111 | GRCh37 | Chr 2, 48033341: 48033341 |
| 275 | MSH6 | NM_000179.2(MSH6): c.3678_3706dup29 (p.Ala1236Glufs) | duplication | Pathogenic | rs63750523 | GRCh37 | Chr 2, 48033374: 48033402 |
| 276 | MSH6 | NM_000179.2(MSH6): c.3725_3737delGTACATTATTTTC (p.Arg1242Glnfs) | deletion | Pathogenic | rs587779287 | GRCh37 | Chr 2, 48033421: 48033433 |
| 277 | MSH6 | NM_000179.2(MSH6): c.3729_3732dupATTA (p.Phe1245Ilefs) | duplication | Pathogenic | rs587779288 | GRCh37 | Chr 2, 48033425: 48033428 |
| 278 | MSH6 | NM_000179.2(MSH6): c.3757_3758insA (p.Val1253Aspfs) | insertion | Pathogenic | rs587779289 | GRCh37 | Chr 2, 48033453: 48033454 |
| 279 | MSH6 | NM_000179.2(MSH6): c.3768T> G (p.Tyr1256Ter) | SNV | Pathogenic | rs63751058 | GRCh37 | Chr 2, 48033464: 48033464 |
| 280 | MSH6 | NM_000179.2(MSH6): c.3772C> T (p.Gln1258Ter) | SNV | Pathogenic | rs63750554 | GRCh37 | Chr 2, 48033468: 48033468 |
| 281 | MSH6 | NM_000179.2(MSH6): c.3798_3801+26del | deletion | Pathogenic | rs587779291 | GRCh37 | Chr 2, 48033494: 48033523 |
| 282 | MSH6 | NM_000179.2(MSH6): c.3799_3800delAT (p.Met1267Glyfs) | deletion | Pathogenic | rs267608114 | GRCh37 | Chr 2, 48033495: 48033496 |
| 283 | MSH6 | NM_000179.2(MSH6): c.3804dupA (p.Cys1269Metfs) | duplication | Pathogenic | rs267608118 | GRCh37 | Chr 2, 48033593: 48033593 |
| 284 | MSH6 | NM_000179.2(MSH6): c.3821_3824dupAATG (p.Cys1275Terfs) | duplication | Pathogenic | rs63750262 | GRCh37 | Chr 2, 48033610: 48033613 |
| 285 | MSH6 | NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter) | SNV | Pathogenic | rs63750139 | GRCh37 | Chr 2, 48033627: 48033627 |
| 286 | MSH6 | NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs) | deletion | Pathogenic | rs63751319 | GRCh37 | Chr 2, 48033629: 48033635 |
| 287 | MSH6 | NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs) | duplication | Pathogenic | rs267608128 | GRCh37 | Chr 2, 48033636: 48033639 |
| 288 | MSH6 | NM_000179.2(MSH6): c.3887_3893delAAAGCTA (p.Lys1296Metfs) | deletion | Pathogenic | rs267608130 | GRCh37 | Chr 2, 48033676: 48033682 |
| 289 | MSH6 | NM_000179.2(MSH6): c.3918dupT (p.Asn1307Terfs) | duplication | Pathogenic | rs587779295 | GRCh37 | Chr 2, 48033707: 48033707 |
| 290 | MSH6 | NM_000179.2(MSH6): c.3920_3927dupATCTCCCA (p.Glu1310Ilefs) | duplication | Pathogenic | rs587779296 | GRCh37 | Chr 2, 48033709: 48033716 |
| 291 | MSH6 | NM_000179.2(MSH6): c.3932_3935dupAAGT (p.Ile1313Serfs) | duplication | Pathogenic | rs267608127 | GRCh37 | Chr 2, 48033721: 48033724 |
| 292 | MSH6 | NM_000179.2(MSH6): c.3938_3941dupTTCA (p.Gln1314Hisfs) | duplication | Pathogenic | rs267608126 | GRCh37 | Chr 2, 48033727: 48033730 |
| 293 | MSH6 | NM_000179.2(MSH6): c.3939_3957dup19 (p.Ala1320Serfs) | duplication | Pathogenic | rs63750767 | GRCh37 | Chr 2, 48033728: 48033746 |
| 294 | MSH6 | NM_000179.2(MSH6): c.3953_3954ins32 (p.?) | insertion | Pathogenic | rs587779297 | GRCh37 | Chr 2, 48033742: 48033743 |
| 295 | MSH6 | NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs) | deletion | Pathogenic | rs267608120 | GRCh37 | Chr 2, 48033748: 48033751 |
| 296 | MSH6 | NM_000179.2(MSH6): c.3969_3979delTGAGAAGATGA (p.Phe1323Leufs) | deletion | Pathogenic | rs587779299 | GRCh37 | Chr 2, 48033758: 48033768 |
| 297 | MSH6 | NM_000179.2(MSH6): c.3984_3985insATCA (p.Ser1329Ilefs) | insertion | Pathogenic | rs267608124 | GRCh37 | Chr 2, 48033773: 48033774 |
| 298 | MSH6 | NM_000179.2 (MSH6): c.3984_3987dupGTCA (p.Leu1330Valfs) | duplication | Pathogenic | rs267608121 | GRCh37 | Chr 2, 48033773: 48033776 |
| 299 | MSH6 | NM_000179.2(MSH6): c.3996_4000dupATTTC (p.Arg1334Hisfs) | duplication | Pathogenic | rs587779301 | GRCh37 | Chr 2, 48033785: 48033789 |
| 300 | MSH6 | NM_000179.2(MSH6): c.4001+2T> C | SNV | Pathogenic | rs267608131 | GRCh37 | Chr 2, 48033792: 48033792 |
| 301 | MSH6 | NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln) | SNV | Pathogenic | rs267608122 | GRCh37 | Chr 2, 48033790: 48033790 |
| 302 | MSH6 | NM_000179.2(MSH6): c.4002-31_4002-8inv | inversion | Pathogenic | | GRCh37 | Chr 2, 48033887: 48033910 |
| 303 | MSH6 | NM_000179.2(MSH6): c.426G> A (p.Trp142Ter) | SNV | Pathogenic | rs63750342 | GRCh37 | Chr 2, 48018231: 48018231 |
| 304 | MSH6 | NM_000179.2(MSH6): c.457+2T> A | SNV | Pathogenic | rs267608036 | GRCh37 | Chr 2, 48018264: 48018264 |
| 305 | MSH6 | NM_000179.2(MSH6): c.458-?_627+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 306 | MSH6 | NM_000179.2(MSH6): c.467C> G (p.Ser156Ter) | SNV | Pathogenic | rs63749873 | GRCh37 | Chr 2, 48023042: 48023042 |
| 307 | MSH6 | NM_000179.2(MSH6): c.522_523delAG (p.Arg174Serfs) | deletion | Pathogenic | rs267608037 | GRCh37 | Chr 2, 48023097: 48023098 |
| 308 | MSH6 | NM_000179.2(MSH6): c.599C> A (p.Ser200Ter) | SNV | Pathogenic | rs63751077 | GRCh37 | Chr 2, 48023174: 48023174 |
| 309 | MSH6 | NM_000179.2(MSH6): c.642C> A (p.Tyr214Ter) | SNV | Pathogenic | rs1800937 | GRCh37 | Chr 2, 48025764: 48025764 |
| 310 | MSH6 | NM_000179.2(MSH6): c.642C> G (p.Tyr214Ter) | SNV | Pathogenic | rs1800937 | GRCh37 | Chr 2, 48025764: 48025764 |
| 311 | MSH6 | NM_000179.2(MSH6): c.652A> T (p.Lys218Ter) | SNV | Pathogenic | rs587779315 | GRCh37 | Chr 2, 48025774: 48025774 |
| 312 | MSH6 | NM_000179.2(MSH6): c.694C> T (p.Gln232Ter) | SNV | Pathogenic | rs587779318 | GRCh37 | Chr 2, 48025816: 48025816 |
| 313 | MSH6 | NM_000179.2(MSH6): c.706C> T (p.Gln236Ter) | SNV | Pathogenic | rs63750996 | GRCh37 | Chr 2, 48025828: 48025828 |
| 314 | MSH6 | NM_000179.2(MSH6): c.710delG (p.Gly237Aspfs) | deletion | Pathogenic | rs587779319 | GRCh37 | Chr 2, 48025832: 48025832 |
| 315 | MSH6 | NM_000179.2(MSH6): c.718C> T (p.Arg240Ter) | SNV | Pathogenic | rs63750019 | GRCh37 | Chr 2, 48025840: 48025840 |
| 316 | MSH6 | NM_000179.2(MSH6): c.730C> T (p.Gln244Ter) | SNV | Pathogenic | rs267608066 | GRCh37 | Chr 2, 48025852: 48025852 |
| 317 | MSH6 | NM_000179.2(MSH6): c.738_739insT (p.Lys247Terfs) | insertion | Pathogenic | rs587779320 | GRCh37 | Chr 2, 48025860: 48025861 |
| 318 | MSH6 | NM_000179.2(MSH6): c.742C> T (p.Arg248Ter) | SNV | Pathogenic | rs63749980 | GRCh37 | Chr 2, 48025864: 48025864 |
| 319 | MSH6 | NM_000179.2(MSH6): c.755C> G (p.Ser252Ter) | SNV | Pathogenic | rs267608048 | GRCh37 | Chr 2, 48025877: 48025877 |
| 320 | MSH6 | NM_000179.2(MSH6): c.762_763delTG (p.Ser256Terfs) | deletion | Pathogenic | rs267608072 | GRCh37 | Chr 2, 48025884: 48025885 |
| 321 | MSH6 | NM_000179.2(MSH6): c.814G> T (p.Glu272Ter) | SNV | Pathogenic | rs63750552 | GRCh37 | Chr 2, 48025936: 48025936 |
| 322 | MSH6 | NM_000179.2(MSH6): c.845dupT (p.Asp284Glyfs) | duplication | Pathogenic | rs267608062 | GRCh37 | Chr 2, 48025967: 48025967 |
| 323 | MSH6 | NM_000179.2(MSH6): c.892C> T (p.Arg298Ter) | SNV | Pathogenic | rs146816935 | GRCh37 | Chr 2, 48026014: 48026014 |
| 324 | MLH1 | NM_000249.3(MLH1): c.(?_-198)_(*193_?)del | deletion | Pathogenic | | GRCh38 | Chr 3, 36993350: 37050846 |
| 325 | MLH1 | NM_000249.3(MLH1): c.(?_-198)_116+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034841: 37035154 |
| 326 | MLH1 | NM_000249.3(MLH1): c.(?_-198)_1558+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034840: 37070424 |
| 327 | MLH1 | MLH1: c.(?_-198)_207+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034841: 37038200 |
| 328 | MLH1 | MLH1: c.(?_-198)_306+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034841: 37042544 |
| 329 | MLH1 | NM_000249.3(MLH1): c.(?_-198)_545+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034841: 37050396 |
| 330 | MLH1 | NM_000249.3(MLH1): c.(?_-198)_884+?del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034841: 37059090 |
| 331 | MLH1 | NM_000249.3(MLH1): c.-381_207+606del | deletion | Pathogenic | | GRCh37 | Chr 3, 37034658: 37038806 |
| 332 | MLH1 | NM_000249.3(MLH1): c.-54519_1731+2263del | deletion | Pathogenic | | GRCh38 | Chr 3, 36939029: 37044594 |
| 333 | MLH1 | NM_000249.3(MLH1): c.-73960_*46597del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 334 | MLH1 | NM_000249.3(MLH1): c.1007delG (p.Gly336Alafs) | deletion | Pathogenic | rs63750434 | GRCh37 | Chr 3, 37061923: 37061923 |
| 335 | MLH1 | NM_000249.3(MLH1): c.1011delC (p.Asn338Ilefs) | deletion | Pathogenic | rs63750853 | GRCh37 | Chr 3, 37061927: 37061927 |
| 336 | MLH1 | NM_000249.3(MLH1): c.1011dupC (p.Asn338Glnfs) | duplication | Pathogenic | rs63750677 | GRCh37 | Chr 3, 37061927: 37061927 |
| 337 | MLH1 | NM_000249.3(MLH1): c.1017delC (p.Ser340Profs) | deletion | Pathogenic | rs63750339 | GRCh37 | Chr 3, 37061933: 37061933 |
| 338 | MLH1 | NM_000249.3(MLH1): c.1023delG (p.Met342Cysfs) | deletion | Pathogenic | rs63749837 | GRCh37 | Chr 3, 37061939: 37061939 |
| 339 | MLH1 | NM_000249.3(MLH1): c.1026dupG (p.Tyr343Valfs) | duplication | Pathogenic | rs587778881 | GRCh37 | Chr 3, 37061942: 37061942 |
| 340 | MLH1 | NM_000249.3(MLH1): c.102_103delGA (p.Glu34Aspfs) | deletion | Pathogenic | rs63749813 | GRCh37 | Chr 3, 37035140: 37035141 |
| 341 | MLH1 | NM_000249.3(MLH1): c.1038G> A (p.Gln346=) | SNV | Pathogenic | rs63751715 | GRCh37 | Chr 3, 37061954: 37061954 |
| 342 | MLH1 | NM_000249.3(MLH1): c.1038G> C (p.Gln346His) | SNV | Pathogenic | rs63751715 | GRCh37 | Chr 3, 37061954: 37061954 |
| 343 | MLH1 | NM_000249.3(MLH1): c.1038G> T (p.Gln346His) | SNV | Pathogenic | rs63751715 | GRCh37 | Chr 3, 37061954: 37061954 |
| 344 | MLH1 | NM_000249.3(MLH1): c.1039-1G> A | SNV | Pathogenic | rs267607819 | GRCh37 | Chr 3, 37067127: 37067127 |
| 345 | MLH1 | NM_000249.3(MLH1): c.1039-2329_1409+827del | deletion | Pathogenic | | GRCh37 | Chr 3, 37064799: 37068325 |
| 346 | MLH1 | NM_000249.3(MLH1): c.1039-675_1409+26del | deletion | Pathogenic | | GRCh37 | Chr 3, 37066453: 37067524 |
| 347 | MLH1 | NM_000249.3(MLH1): c.1039-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37067128: 37092337 |
| 348 | MLH1 | NM_000249.3(MLH1): c.1039-?_1409+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 349 | MLH1 | NM_000249.3(MLH1): c.1039-?_1558+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 350 | MLH1 | NM_000249.3(MLH1): c.1046dupT (p.Pro350Thrfs) | duplication | Pathogenic | rs267607822 | GRCh37 | Chr 3, 37067135: 37067135 |
| 351 | MLH1 | NM_000249.3(MLH1): c.104T> G (p.Met35Arg) | SNV | Pathogenic | rs63749906 | GRCh37 | Chr 3, 37035142: 37035142 |
| 352 | MLH1 | NM_000249.3(MLH1): c.104_105insAA (p.Met35Ilefs) | insertion | Pathogenic | rs587778882 | GRCh37 | Chr 3, 37035142: 37035143 |
| 353 | MLH1 | NM_000249.3(MLH1): c.1050delA (p.Gly351Aspfs) | deletion | Pathogenic | rs587778883 | GRCh37 | Chr 3, 37067139: 37067139 |
| 354 | MLH1 | NM_000249.3(MLH1): c.1061delG (p.Gly354Alafs) | deletion | Pathogenic | rs63750472 | GRCh37 | Chr 3, 37067150: 37067150 |
| 355 | MLH1 | NM_000249.3(MLH1): c.1071_1078delGGAGATGG (p.Glu358Terfs) | deletion | Pathogenic | rs587778884 | GRCh37 | Chr 3, 37067160: 37067167 |
| 356 | MLH1 | NM_000249.3(MLH1): c.1072delG (p.Glu358Argfs) | deletion | Pathogenic | rs587778885 | GRCh37 | Chr 3, 37067161: 37067161 |
| 357 | MLH1 | NM_000249.3(MLH1): c.109G> T (p.Glu37Ter) | SNV | Pathogenic | rs63751012 | GRCh37 | Chr 3, 37035147: 37035147 |
| 358 | MLH1 | NM_000249.3(MLH1): c.1101delC (p.Ser368Argfs) | deletion | Pathogenic | rs63750715 | GRCh37 | Chr 3, 37067190: 37067190 |
| 359 | MLH1 | NM_000249.3(MLH1): c.1128_1129dupTA (p.Lys377Ilefs) | duplication | Pathogenic | rs63750305 | GRCh37 | Chr 3, 37067217: 37067218 |
| 360 | MLH1 | NM_000249.3(MLH1): c.112A> C (p.Asn38His) | SNV | Pathogenic | rs63750580 | GRCh37 | Chr 3, 37035150: 37035150 |
| 361 | MLH1 | NM_000249.3(MLH1): c.1132_1134delGTCinsA (p.Val378Ilefs) | indel | Pathogenic | rs587778887 | GRCh37 | Chr 3, 37067221: 37067223 |
| 362 | MLH1 | NM_000249.3(MLH1): c.113A> G (p.Asn38Ser) | SNV | Pathogenic | rs587778888 | GRCh37 | Chr 3, 37035151: 37035151 |
| 363 | MLH1 | NM_000249.3(MLH1): c.1145dupA (p.Met383Aspfs) | duplication | Pathogenic | rs587778889 | GRCh37 | Chr 3, 37067234: 37067234 |
| 364 | MLH1 | NM_000249.3(MLH1): c.114C> G (p.Asn38Lys) | SNV | Pathogenic | rs267607706 | GRCh37 | Chr 3, 37035152: 37035152 |
| 365 | MLH1 | NM_000249.3(MLH1): c.1150delG (p.Val384Phefs) | deletion | Pathogenic | rs63749965 | GRCh37 | Chr 3, 37067239: 37067239 |
| 366 | MLH1 | NM_000249.3(MLH1): c.116+5G> C | SNV | Pathogenic | rs267607710 | GRCh37 | Chr 3, 37035159: 37035159 |
| 367 | MLH1 | NM_000249.3(MLH1): c.1163_1164ins4 | insertion | Pathogenic | rs587778893 | GRCh37 | Chr 3, 37067252: 37067253 |
| 368 | MLH1 | NM_000249.3(MLH1): c.116G> A (p.Cys39Tyr) | SNV | Likely pathogenic | rs63751701 | GRCh37 | Chr 3, 37035154: 37035154 |
| 369 | MLH1 | NM_000249.3(MLH1): c.117-691_306+1011del | deletion | Pathogenic | | GRCh37 | Chr 3, 37037419: 37043555 |
| 370 | MLH1 | NM_000249.3(MLH1) | indel | Pathogenic | | GRCh37 | Chr 3, 37037403: 37051734 |
| 371 | MLH1 | NM_000249.3(MLH1): c.117-?_207+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 372 | MLH1 | NM_000249.3(MLH1): c.117-?_380+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 373 | MLH1 | NM_000249.3(MLH1): c.117-?_545+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 374 | MLH1 | NM_000249.3(MLH1): c.1171C> T (p.Gln391Ter) | SNV | Pathogenic | rs587778894 | GRCh37 | Chr 3, 37067260: 37067260 |
| 375 | MLH1 | NM_000249.3(MLH1): c.1190delT (p.Leu397Argfs) | deletion | Pathogenic | rs63750749 | GRCh37 | Chr 3, 37067279: 37067279 |
| 376 | MLH1 | NM_000249.3(MLH1): c.1192C> T (p.Gln398Ter) | SNV | Pathogenic | rs63750483 | GRCh37 | Chr 3, 37067281: 37067281 |
| 377 | MLH1 | NM_000249.3(MLH1): c.119delT (p.Leu40Terfs) | deletion | Pathogenic | rs587778896 | GRCh37 | Chr 3, 37038112: 37038112 |
| 378 | MLH1 | NM_000249.3(MLH1): c.1210_1211delCT (p.Leu404Valfs) | deletion | Pathogenic | rs63751015 | GRCh37 | Chr 3, 37067299: 37067300 |
| 379 | MLH1 | NM_000249.3(MLH1): c.1210dupC (p.Leu404Profs) | duplication | Pathogenic | rs587778898 | GRCh37 | Chr 3, 37067299: 37067299 |
| 380 | MLH1 | NM_000249.3(MLH1): c.1217_1223dupGTCAGCC (p.Gln409Serfs) | duplication | Pathogenic | rs587778899 | GRCh37 | Chr 3, 37067306: 37067312 |
| 381 | MLH1 | NM_000249.3(MLH1): c.1218delT (p.Gln407Serfs) | deletion | Pathogenic | rs587778900 | GRCh37 | Chr 3, 37067307: 37067307 |
| 382 | MLH1 | NM_000249.3(MLH1): c.121G> C (p.Asp41His) | SNV | Likely pathogenic | rs267607713 | GRCh37 | Chr 3, 37038114: 37038114 |
| 383 | MLH1 | NM_000249.3(MLH1): c.1225C> T (p.Gln409Ter) | SNV | Pathogenic | rs63751153 | GRCh37 | Chr 3, 37067314: 37067314 |
| 384 | MLH1 | NM_000249.3(MLH1): c.122A> G (p.Asp41Gly) | SNV | Pathogenic | rs63751094 | GRCh37 | Chr 3, 37038115: 37038115 |
| 385 | MLH1 | NM_000249.3(MLH1): c.1252_1253delGA (p.Asp418Tyrfs) | deletion | Pathogenic | rs63751118 | GRCh37 | Chr 3, 37067341: 37067342 |
| 386 | MLH1 | NM_000249.3(MLH1): c.1261delA (p.Ser421Valfs) | deletion | Pathogenic | rs63750293 | GRCh37 | Chr 3, 37067350: 37067350 |
| 387 | MLH1 | NM_000249.3(MLH1): c.1276C> T (p.Gln426Ter) | SNV | Pathogenic | rs63750316 | GRCh37 | Chr 3, 37067365: 37067365 |
| 388 | MLH1 | NM_000249.3(MLH1): c.128_131dupAATC (p.Thr45Ilefs) | duplication | Pathogenic | rs63751431 | GRCh37 | Chr 3, 37038121: 37038124 |
| 389 | MLH1 | NM_000249.3(MLH1): c.1310delC (p.Pro437Leufs) | deletion | Pathogenic | rs63750748 | GRCh37 | Chr 3, 37067399: 37067399 |
| 390 | MLH1 | NM_000249.3(MLH1): c.1325_1346del22ins5 | indel | Pathogenic | rs587778903 | GRCh37 | Chr 3, 37067414: 37067435 |
| 391 | MLH1 | NM_000249.3(MLH1): c.1334delA (p.Gln445Argfs) | deletion | Pathogenic | rs63749845 | GRCh37 | Chr 3, 37067423: 37067423 |
| 392 | MLH1 | NM_000249.3(MLH1): c.1343delA (p.Glu448Glyfs) | deletion | Pathogenic | rs63749981 | GRCh37 | Chr 3, 37067432: 37067432 |
| 393 | MLH1 | NM_000249.3(MLH1): c.1347_1367del21insTAAA (p.Asp450Lysfs) | indel | Pathogenic | rs587778905 | GRCh37 | Chr 3, 37067436: 37067456 |
| 394 | MLH1 | NM_000249.3(MLH1): c.1348dupG (p.Asp450Glyfs) | duplication | Pathogenic | rs587778906 | GRCh37 | Chr 3, 37067437: 37067437 |
| 395 | MLH1 | NM_000249.3(MLH1): c.1354delA (p.Thr452Glnfs) | deletion | Pathogenic | rs63750071 | GRCh37 | Chr 3, 37067443: 37067443 |
| 396 | MLH1 | NM_000249.3(MLH1): c.1362delG (p.Thr455Leufs) | deletion | Pathogenic | rs587778907 | GRCh37 | Chr 3, 37067451: 37067451 |
| 397 | MLH1 | NM_000249.3(MLH1): c.1362dupG (p.Thr455Aspfs) | duplication | Pathogenic | rs267607821 | GRCh37 | Chr 3, 37067451: 37067451 |
| 398 | MLH1 | NM_000249.3(MLH1): c.1377delA (p.Glu460Argfs) | deletion | Pathogenic | rs587778908 | GRCh37 | Chr 3, 37067466: 37067466 |
| 399 | MLH1 | NM_000249.3(MLH1): c.1377dupA (p.Glu460Argfs) | duplication | Pathogenic | rs63750020 | GRCh37 | Chr 3, 37067466: 37067466 |
| 400 | MLH1 | NM_000249.3(MLH1): c.1380_1381delGA (p.Lys461Glufs) | deletion | Pathogenic | rs587778909 | GRCh37 | Chr 3, 37067469: 37067470 |
| 401 | MLH1 | NM_000249.3(MLH1): c.1398delC (p.Ser467Alafs) | deletion | Pathogenic | rs63750713 | GRCh37 | Chr 3, 37067487: 37067487 |
| 402 | MLH1 | NM_000249.3(MLH1): c.1409+1127_1558+4255del | deletion | Pathogenic | | GRCh37 | Chr 3, 37068625: 37074678 |
| 403 | MLH1 | NM_000249.3(MLH1): c.1409+1156_1558+1385del | deletion | Pathogenic | | GRCh37 | Chr 3, 37068654: 37071808 |
| 404 | MLH1 | NM_000249.3(MLH1): c.1409+1G> A | SNV | Likely pathogenic | rs267607825 | GRCh37 | Chr 3, 37067499: 37067499 |
| 405 | MLH1 | NM_000249.3(MLH1): c.1409+1G> C | SNV | Pathogenic | rs267607825 | GRCh37 | Chr 3, 37067499: 37067499 |
| 406 | MLH1 | NM_000249.3(MLH1): c.1410-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37070275: 37092337 |
| 407 | MLH1 | NM_000249.3(MLH1): c.1410-?_1558+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 408 | MLH1 | NM_000249.3(MLH1): c.1410-?_1731+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 409 | MLH1 | NM_000249.3(MLH1): c.1411_1414delAAGA (p.Lys471Aspfs) | deletion | Pathogenic | rs63751592 | GRCh37 | Chr 3, 37070276: 37070279 |
| 410 | MLH1 | NM_000249.3(MLH1): c.1412dupA (p.Arg472Glufs) | duplication | Pathogenic | rs63751677 | GRCh37 | Chr 3, 37070277: 37070277 |
| 411 | MLH1 | NM_000249.3(MLH1): c.1413_1416delGAGA (p.Lys471Asnfs) | deletion | Pathogenic | rs281864936 | GRCh37 | Chr 3, 37070278: 37070281 |
| 412 | MLH1 | NM_000249.3(MLH1): c.1414dupA (p.Arg472Lysfs) | duplication | Pathogenic | rs63751468 | GRCh37 | Chr 3, 37070279: 37070279 |
| 413 | MLH1 | NM_000249.3(MLH1): c.1415_1416delGA (p.Arg472Thrfs) | deletion | Pathogenic | rs281864937 | GRCh37 | Chr 3, 37070280: 37070281 |
| 414 | MLH1 | NM_000249.3(MLH1): c.1415_1427delGACATCGGGAAGA (p.Arg472Ilefs) | deletion | Pathogenic | rs587778912 | GRCh37 | Chr 3, 37070280: 37070292 |
| 415 | MLH1 | NM_000249.3(MLH1): c.1420delC (p.Arg474Glyfs) | deletion | Pathogenic | rs63750482 | GRCh37 | Chr 3, 37070285: 37070285 |
| 416 | MLH1 | NM_000249.3(MLH1): c.142C> T (p.Gln48Ter) | SNV | Pathogenic | rs587778913 | GRCh37 | Chr 3, 37038135: 37038135 |
| 417 | MLH1 | NM_000249.3(MLH1): c.1449delA (p.Asp484Metfs) | deletion | Pathogenic | rs587778915 | GRCh37 | Chr 3, 37070314: 37070314 |
| 418 | MLH1 | NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter) | SNV | Pathogenic | rs63749795 | GRCh37 | Chr 3, 37070324: 37070324 |
| 419 | MLH1 | NM_000249.3(MLH1): c.1462A> T (p.Lys488Ter) | SNV | Pathogenic | rs587778918 | GRCh37 | Chr 3, 37070327: 37070327 |
| 420 | MLH1 | NM_000249.3(MLH1): c.1463delA (p.Lys488Argfs) | deletion | Pathogenic | rs63749876 | GRCh37 | Chr 3, 37070328: 37070328 |
| 421 | MLH1 | NM_000249.3(MLH1): c.1464_1468delGGAAA (p.Lys488Asnfs) | deletion | Pathogenic | rs587778919 | GRCh37 | Chr 3, 37070329: 37070333 |
| 422 | MLH1 | NM_000249.3(MLH1): c.146T> A (p.Val49Glu) | SNV | Pathogenic | rs63750098 | GRCh37 | Chr 3, 37038139: 37038139 |
| 423 | MLH1 | NM_000249.3(MLH1): c.1489delC (p.Arg497Glyfs) | deletion | Pathogenic | rs63750855 | GRCh37 | Chr 3, 37070354: 37070354 |
| 424 | MLH1 | NM_000249.3(MLH1): c.1489dupC (p.Arg497Profs) | duplication | Pathogenic | rs63751031 | GRCh37 | Chr 3, 37070354: 37070354 |
| 425 | MLH1 | NM_000249.3(MLH1): c.1491delG (p.Arg498Glufs) | deletion | Pathogenic | rs63751435 | GRCh37 | Chr 3, 37070356: 37070356 |
| 426 | MLH1 | NM_000249.3(MLH1): c.150dupT (p.Val51Cysfs) | duplication | Pathogenic | rs63749956 | GRCh37 | Chr 3, 37038143: 37038143 |
| 427 | MLH1 | NM_000249.3(MLH1): c.1520delT (p.Leu507Terfs) | deletion | Pathogenic | rs587778921 | GRCh37 | Chr 3, 37070385: 37070385 |
| 428 | MLH1 | NM_000249.3(MLH1): c.1520dupT (p.Leu507Phefs) | duplication | Pathogenic | rs63749916 | GRCh37 | Chr 3, 37070385: 37070385 |
| 429 | MLH1 | NM_000249.3(MLH1): c.1528C> T (p.Gln510Ter) | SNV | Pathogenic | rs63749923 | GRCh37 | Chr 3, 37070393: 37070393 |
| 430 | MLH1 | NM_000249.3(MLH1): c.1534G> T (p.Glu512Ter) | SNV | Pathogenic | rs63751472 | GRCh37 | Chr 3, 37070399: 37070399 |
| 431 | MLH1 | NM_000249.3(MLH1): c.153dupT (p.Lys52Terfs) | duplication | Pathogenic | rs587778922 | GRCh37 | Chr 3, 37038146: 37038146 |
| 432 | MLH1 | NM_000249.3(MLH1): c.1542dupT (p.Glu515Terfs) | duplication | Pathogenic | rs63750317 | GRCh37 | Chr 3, 37070407: 37070407 |
| 433 | MLH1 | NM_000249.3(MLH1): c.1549G> T (p.Gly517Ter) | SNV | Pathogenic | rs63751705 | GRCh37 | Chr 3, 37070414: 37070414 |
| 434 | MLH1 | NM_000249.3(MLH1): c.1552_1553insT (p.His518Leufs) | insertion | Pathogenic | rs587778924 | GRCh37 | Chr 3, 37070417: 37070418 |
| 435 | MLH1 | NM_000249.3(MLH1): c.1552delC (p.His518Metfs) | deletion | Pathogenic | rs587778925 | GRCh37 | Chr 3, 37070417: 37070417 |
| 436 | MLH1 | NM_000249.3(MLH1): c.1554dupT (p.Glu519Terfs) | duplication | Pathogenic | rs63751689 | GRCh37 | Chr 3, 37070419: 37070419 |
| 437 | MLH1 | NM_000249.3(MLH1): c.1557_1558insT (p.Val520Cysfs) | insertion | Pathogenic | rs587778926 | GRCh37 | Chr 3, 37070422: 37070423 |
| 438 | MLH1 | NM_000249.3(MLH1): c.1558+1G> T | SNV | Pathogenic | rs267607832 | GRCh37 | Chr 3, 37070424: 37070424 |
| 439 | MLH1 | NM_000249.3(MLH1): c.1559-1322_1668-391del | deletion | Pathogenic | | GRCh37 | Chr 3, 37080355: 37083368 |
| 440 | MLH1 | NM_000249.3(MLH1): c.1559-1G> T | SNV | Pathogenic | rs267607837 | GRCh37 | Chr 3, 37081676: 37081676 |
| 441 | MLH1 | NM_000249.3(MLH1): c.1559-2A> G | SNV | Pathogenic | rs267607836 | GRCh37 | Chr 3, 37081675: 37081675 |
| 442 | MLH1 | NM_000249.3(MLH1): c.1559-2A> T | SNV | Pathogenic | rs267607836 | GRCh37 | Chr 3, 37081675: 37081675 |
| 443 | MLH1 | NM_000249.3(MLH1): c.1559-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37081677: 37092337 |
| 444 | MLH1 | NM_000249.3(MLH1): c.1559-?_1667+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 445 | MLH1 | NM_000249.3(MLH1): c.1559-?_1731+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 446 | MLH1 | NM_000249.3(MLH1): c.155_158delAAGA (p.Lys52Argfs) | deletion | Pathogenic | rs587778923 | GRCh37 | Chr 3, 37038148: 37038151 |
| 447 | MLH1 | NM_000249.3(MLH1): c.156delA (p.Glu53Argfs) | deletion | Pathogenic | rs587778927 | GRCh37 | Chr 3, 37038149: 37038149 |
| 448 | MLH1 | NM_000249.3(MLH1): c.156dupA (p.Glu53Argfs) | duplication | Pathogenic | rs63750028 | GRCh37 | Chr 3, 37038149: 37038149 |
| 449 | MLH1 | NM_000249.3(MLH1): c.1572_1573delGT (p.Met524Ilefs) | deletion | Pathogenic | rs587778928 | GRCh37 | Chr 3, 37081690: 37081691 |
| 450 | MLH1 | NM_000249.3(MLH1): c.1573_1574delTT (p.Leu525Alafs) | deletion | Pathogenic | rs63751613 | GRCh37 | Chr 3, 37081691: 37081692 |
| 451 | MLH1 | NM_000249.3(MLH1): c.1574T> A (p.Leu525Ter) | SNV | Pathogenic | rs587778929 | GRCh37 | Chr 3, 37081692: 37081692 |
| 452 | MLH1 | NM_000249.3(MLH1): c.1588_1590delTTC (p.Phe530del) | deletion | Pathogenic | rs587778930 | GRCh37 | Chr 3, 37081706: 37081708 |
| 453 | MLH1 | NM_000249.3(MLH1): c.1592_1593delTG (p.Val531Glyfs) | deletion | Pathogenic | rs587778931 | GRCh37 | Chr 3, 37081710: 37081711 |
| 454 | MLH1 | NM_000249.3(MLH1): c.15_28delAGGGGTTATTCGGC (p.Gly6Alafs) | deletion | Pathogenic | rs63751891 | GRCh37 | Chr 3, 37035053: 37035066 |
| 455 | MLH1 | NM_000249.3(MLH1): c.1609C> T (p.Gln537Ter) | SNV | Pathogenic | rs63751277 | GRCh37 | Chr 3, 37081727: 37081727 |
| 456 | MLH1 | NM_000249.3(MLH1): c.1613G> A (p.Trp538Ter) | SNV | Pathogenic | rs587778933 | GRCh37 | Chr 3, 37081731: 37081731 |
| 457 | MLH1 | NM_000249.3(MLH1): c.1614G> A (p.Trp538Ter) | SNV | Pathogenic | rs267607842 | GRCh37 | Chr 3, 37081732: 37081732 |
| 458 | MLH1 | NM_000249.3(MLH1): c.161_164delGAGG (p.Gly54Alafs) | deletion | Pathogenic | rs587778932 | GRCh37 | Chr 3, 37038154: 37038157 |
| 459 | MLH1 | NM_000249.3(MLH1): c.161delG (p.Gly54Glufs) | deletion | Pathogenic | rs63751266 | GRCh37 | Chr 3, 37038154: 37038154 |
| 460 | MLH1 | NM_000249.3(MLH1): c.1620_1621delGG (p.Leu540Phefs) | deletion | Pathogenic | rs63750036 | GRCh37 | Chr 3, 37081738: 37081739 |
| 461 | MLH1 | NM_000249.3(MLH1): c.1622delC (p.Ala541Aspfs) | deletion | Pathogenic | rs63750824 | GRCh37 | Chr 3, 37081740: 37081740 |
| 462 | MLH1 | NM_000249.3(MLH1): c.1624C> T (p.Gln542Ter) | SNV | Pathogenic | rs63750192 | GRCh37 | Chr 3, 37081742: 37081742 |
| 463 | MLH1 | NM_000249.3(MLH1): c.1639_1643dupTTATA (p.Leu549Tyrfs) | duplication | Pathogenic | rs587778934 | GRCh37 | Chr 3, 37081757: 37081761 |
| 464 | MLH1 | NM_000249.3(MLH1): c.1640T> A (p.Leu547Ter) | SNV | Pathogenic | rs63750300 | GRCh37 | Chr 3, 37081758: 37081758 |
| 465 | MLH1 | NM_000249.3(MLH1): c.1644C> G (p.Tyr548Ter) | SNV | Pathogenic | rs63751087 | GRCh37 | Chr 3, 37081762: 37081762 |
| 466 | MLH1 | NM_000249.3(MLH1): c.1664_1665insAAGT (p.Glu557Terfs) | insertion | Pathogenic | rs267607699 | GRCh37 | Chr 3, 37081782: 37081783 |
| 467 | MLH1 | NM_000249.3(MLH1): c.1667+2_1667+8delinsATTT | indel | Pathogenic | rs587778938 | GRCh37 | Chr 3, 37081787: 37081793 |
| 468 | MLH1 | NM_000249.3(MLH1): c.1667G> T (p.Ser556Ile) | SNV | Pathogenic | rs63751596 | GRCh37 | Chr 3, 37081785: 37081785 |
| 469 | MLH1 | NM_000249.3(MLH1): c.1668-1G> A | SNV | Likely pathogenic | rs267607845 | GRCh37 | Chr 3, 37083758: 37083758 |
| 470 | MLH1 | NM_000249.3(MLH1): c.1668-?_1731+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 471 | MLH1 | NM_000249.3(MLH1): c.1668-?_1896+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 472 | MLH1 | NM_000249.3(MLH1): c.1668delT (p.Ser556Argfs) | deletion | Pathogenic | rs587778939 | GRCh37 | Chr 3, 37083759: 37083759 |
| 473 | MLH1 | NM_000249.3(MLH1): c.1669G> T (p.Glu557Ter) | SNV | Pathogenic | rs63751244 | GRCh37 | Chr 3, 37083760: 37083760 |
| 474 | MLH1 | NM_000249.3(MLH1): c.1672G> T (p.Glu558Ter) | SNV | Pathogenic | rs63751081 | GRCh37 | Chr 3, 37083763: 37083763 |
| 475 | MLH1 | NM_000249.3(MLH1): c.1683C> G (p.Tyr561Ter) | SNV | Pathogenic | rs63751393 | GRCh37 | Chr 3, 37083774: 37083774 |
| 476 | MLH1 | NM_000249.3(MLH1): c.1684C> T (p.Gln562Ter) | SNV | Pathogenic | rs63751460 | GRCh37 | Chr 3, 37083775: 37083775 |
| 477 | MLH1 | NM_000249.3(MLH1): c.1689dupA (p.Leu564Thrfs) | duplication | Pathogenic | rs63750464 | GRCh37 | Chr 3, 37083780: 37083780 |
| 478 | MLH1 | NM_000249.3(MLH1): c.1690_1693delCTCA (p.Leu564Phefs) | deletion | Pathogenic | rs267607849 | GRCh37 | Chr 3, 37083781: 37083784 |
| 479 | MLH1 | NM_000249.3(MLH1): c.1717_1718delGT (p.Val573Serfs) | deletion | Pathogenic | rs63751709 | GRCh37 | Chr 3, 37083808: 37083809 |
| 480 | MLH1 | NM_000249.3(MLH1): c.1725delG (p.Arg575Serfs) | deletion | Pathogenic | rs63751685 | GRCh37 | Chr 3, 37083816: 37083816 |
| 481 | MLH1 | NM_000249.3(MLH1): c.1731+1G> A | SNV | Pathogenic | rs267607853 | GRCh37 | Chr 3, 37083823: 37083823 |
| 482 | MLH1 | NM_000249.3(MLH1): c.1731+270_1896+73del | deletion | Pathogenic | | GRCh37 | Chr 3, 37084092: 37089247 |
| 483 | MLH1 | NM_000249.3(MLH1): c.1731+5G> A | SNV | Pathogenic | rs267607850 | GRCh37 | Chr 3, 37083827: 37083827 |
| 484 | MLH1 | NM_000249.3(MLH1): c.1731+768_1897-222del | deletion | Pathogenic | | GRCh37 | Chr 3, 37084590: 37089786 |
| 485 | MLH1 | NM_000249.3(MLH1): c.1731G> A (p.Ser577=) | SNV | Pathogenic | rs63751657 | GRCh37 | Chr 3, 37083822: 37083822 |
| 486 | MLH1 | NM_000249.3(MLH1): c.1732-1G> A | SNV | Pathogenic | rs267607854 | GRCh37 | Chr 3, 37089009: 37089009 |
| 487 | MLH1 | NM_000249.3(MLH1): c.1732-2243_1896+404del | deletion | Pathogenic | | GRCh37 | Chr 3, 37086767: 37089578 |
| 488 | MLH1 | NM_000249.3(MLH1): c.1732-2A> T | SNV | Pathogenic | rs267607852 | GRCh37 | Chr 3, 37089008: 37089008 |
| 489 | MLH1 | NM_000249.3(MLH1): c.1732-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37089010: 37092337 |
| 490 | MLH1 | NM_000249.3(MLH1): c.1732-?_1896+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 491 | MLH1 | NM_000249.3(MLH1): c.1732-?_2103+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 492 | MLH1 | NM_000249.3(MLH1): c.1745T> C (p.Leu582Pro) | SNV | Pathogenic | rs63751616 | GRCh37 | Chr 3, 37089023: 37089023 |
| 493 | MLH1 | NM_000249.3(MLH1): c.1745delT (p.Leu582Profs) | deletion | Pathogenic | rs587778942 | GRCh37 | Chr 3, 37089023: 37089023 |
| 494 | MLH1 | NM_000249.3(MLH1): c.1748_1749delTT (p.Phe583Terfs) | deletion | Pathogenic | rs587778943 | GRCh37 | Chr 3, 37089026: 37089027 |
| 495 | MLH1 | NM_000249.3(MLH1): c.1749delT (p.Phe583Leufs) | deletion | Pathogenic | rs63750309 | GRCh37 | Chr 3, 37089027: 37089027 |
| 496 | MLH1 | NM_000249.3(MLH1): c.1758delC (p.Met587Cysfs) | deletion | Pathogenic | rs63749863 | GRCh37 | Chr 3, 37089036: 37089036 |
| 497 | MLH1 | NM_000249.3(MLH1): c.1758dupC (p.Met587Hisfs) | duplication | Pathogenic | rs367543283 | GRCh37 | Chr 3, 37089036: 37089036 |
| 498 | MLH1 | NM_000249.3(MLH1): c.175dupA (p.Ile59Asnfs) | duplication | Pathogenic | rs587778944 | GRCh37 | Chr 3, 37038168: 37038168 |
| 499 | MLH1 | NM_000249.3(MLH1): c.1764delT (p.Ala589Profs) | deletion | Pathogenic | rs63751486 | GRCh37 | Chr 3, 37089042: 37089042 |
| 500 | MLH1 | NM_000249.3(MLH1): c.1769delT (p.Leu590Terfs) | deletion | Pathogenic | rs63749979 | GRCh37 | Chr 3, 37089047: 37089047 |
| 501 | MLH1 | NM_000249.3(MLH1): c.1772_1775delATAG (p.Asp591Valfs) | deletion | Pathogenic | rs63749868 | GRCh37 | Chr 3, 37089050: 37089053 |
| 502 | MLH1 | NM_000249.3(MLH1): c.1778_1779delCA (p.Pro593Argfs) | deletion | Pathogenic | rs63750375 | GRCh37 | Chr 3, 37089056: 37089057 |
| 503 | MLH1 | NM_000249.3(MLH1): c.1783_1784delAG (p.Ser595Trpfs) | deletion | Pathogenic | rs63750035 | GRCh37 | Chr 3, 37089061: 37089062 |
| 504 | MLH1 | NM_000249.3(MLH1): c.1790G> A (p.Trp597Ter) | SNV | Pathogenic | rs63750604 | GRCh37 | Chr 3, 37089068: 37089068 |
| 505 | MLH1 | NM_000249.3(MLH1): c.1800_1818del19 (p.Glu600Aspfs) | deletion | Pathogenic | rs587778946 | GRCh37 | Chr 3, 37089078: 37089096 |
| 506 | MLH1 | NM_000249.3(MLH1): c.1810A> T (p.Lys604Ter) | SNV | Pathogenic | rs63750386 | GRCh37 | Chr 3, 37089088: 37089088 |
| 507 | MLH1 | NM_000249.3(MLH1): c.1812dupA (p.Glu605Argfs) | duplication | Pathogenic | rs63751240 | GRCh37 | Chr 3, 37089090: 37089090 |
| 508 | MLH1 | NM_000249.3(MLH1): c.1821dupT (p.Ala608Cysfs) | duplication | Pathogenic | rs587778947 | GRCh37 | Chr 3, 37089099: 37089099 |
| 509 | MLH1 | NM_000249.3(MLH1): c.1829_1832dupACAT (p.Val612Hisfs) | duplication | Pathogenic | rs587778948 | GRCh37 | Chr 3, 37089107: 37089110 |
| 510 | MLH1 | NM_000249.3(MLH1): c.1831_1832delAT (p.Ile611Cysfs) | deletion | Pathogenic | rs63750150 | GRCh37 | Chr 3, 37089109: 37089110 |
| 511 | MLH1 | NM_000249.3(MLH1): c.184C> T (p.Gln62Ter) | SNV | Pathogenic | rs63751428 | GRCh37 | Chr 3, 37038177: 37038177 |
| 512 | MLH1 | NM_000249.3(MLH1): c.1852A> T (p.Lys618Ter) | SNV | Pathogenic | rs35001569 | GRCh37 | Chr 3, 37089130: 37089130 |
| 513 | MLH1 | NM_000249.3(MLH1): c.1853delAinsTTCTT (p.Lys618Ilefs) | indel | Pathogenic | rs587778949 | GRCh37 | Chr 3, 37089131: 37089131 |
| 514 | MLH1 | NM_000249.3(MLH1): c.1855delG (p.Ala619Leufs) | deletion | Pathogenic | rs63749986 | GRCh37 | Chr 3, 37089133: 37089133 |
| 515 | MLH1 | NM_000249.3(MLH1): c.1866delT (p.Ala623Glnfs) | deletion | Pathogenic | rs587778950 | GRCh37 | Chr 3, 37089144: 37089144 |
| 516 | MLH1 | NM_000249.3(MLH1): c.1875T> G (p.Tyr625Ter) | SNV | Pathogenic | rs63751415 | GRCh37 | Chr 3, 37089153: 37089153 |
| 517 | MLH1 | NM_000249.3(MLH1): c.1877_1883delTCTCTTT (p.Phe626Trpfs) | deletion | Pathogenic | rs63751594 | GRCh37 | Chr 3, 37089155: 37089161 |
| 518 | MLH1 | NM_000249.3(MLH1): c.1877delT (p.Phe626Serfs) | deletion | Pathogenic | rs63750152 | GRCh37 | Chr 3, 37089155: 37089155 |
| 519 | MLH1 | NM_000249.3(MLH1): c.1880_1883delCTTT (p.Ser627Trpfs) | deletion | Pathogenic | rs587778953 | GRCh37 | Chr 3, 37089158: 37089161 |
| 520 | MLH1 | NM_000249.3(MLH1): c.1884_1888delGGAAA (p.Leu628Phefs) | deletion | Pathogenic | rs63751639 | GRCh37 | Chr 3, 37089162: 37089166 |
| 521 | MLH1 | NM_000249.3(MLH1): c.1893delT (p.Asp631Glufs) | deletion | Pathogenic | rs587778954 | GRCh37 | Chr 3, 37089171: 37089171 |
| 522 | MLH1 | NM_000249.3(MLH1): c.1896G> A (p.Glu632=) | SNV | Pathogenic | rs63751632 | GRCh37 | Chr 3, 37089174: 37089174 |
| 523 | MLH1 | NM_000249.3(MLH1): c.1897-?_1989+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 524 | MLH1 | NM_000249.3(MLH1): c.189C> A (p.Asp63Glu) | SNV | Pathogenic | rs587778955 | GRCh37 | Chr 3, 37038182: 37038182 |
| 525 | MLH1 | NM_000249.3(MLH1): c.18_34del17 (p.Val7Argfs) | deletion | Pathogenic | rs63751892 | GRCh37 | Chr 3, 37035056: 37035072 |
| 526 | MLH1 | NM_000249.3(MLH1): c.1902delG (p.Asn635Thrfs) | deletion | Pathogenic | rs587778956 | GRCh37 | Chr 3, 37090013: 37090013 |
| 527 | MLH1 | NM_000249.3(MLH1): c.1904dupA (p.Asn635Lysfs) | duplication | Pathogenic | rs587778957 | GRCh37 | Chr 3, 37090015: 37090015 |
| 528 | MLH1 | NM_000249.3(MLH1): c.190_191delAA (p.Asn64Trpfs) | deletion | Pathogenic | rs63750469 | GRCh37 | Chr 3, 37038183: 37038184 |
| 529 | MLH1 | NM_000249.3(MLH1): c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) | duplication | Pathogenic | rs587778958 | GRCh37 | Chr 3, 37090024: 37090037 |
| 530 | MLH1 | NM_000249.3(MLH1): c.1914_1942dup29 (p.Pro648Hisfs) | duplication | Pathogenic | rs587778959 | GRCh37 | Chr 3, 37090025: 37090053 |
| 531 | MLH1 | NM_000249.3(MLH1): c.1916dupT (p.Leu639Phefs) | duplication | Pathogenic | rs587778960 | GRCh37 | Chr 3, 37090027: 37090027 |
| 532 | MLH1 | NM_000249.3(MLH1): c.191dupA (p.Asn64Lysfs) | duplication | Pathogenic | rs63751255 | GRCh37 | Chr 3, 37038184: 37038184 |
| 533 | MLH1 | NM_000249.3(MLH1): c.1920_1921insT (p.Leu641Serfs) | insertion | Pathogenic | rs587778961 | GRCh37 | Chr 3, 37090031: 37090032 |
| 534 | MLH1 | NM_000249.3(MLH1): c.1930delG (p.Asp644Thrfs) | deletion | Pathogenic | rs587778962 | GRCh37 | Chr 3, 37090041: 37090041 |
| 535 | MLH1 | NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) | SNV | Pathogenic | rs63750610 | GRCh37 | Chr 3, 37090054: 37090054 |
| 536 | MLH1 | NM_000249.3(MLH1): c.1946delC (p.Pro649Leufs) | deletion | Pathogenic | rs281864938 | GRCh37 | Chr 3, 37090057: 37090057 |
| 537 | MLH1 | NM_000249.3(MLH1): c.1953_1956delGGGA (p.Glu651Aspfs) | deletion | Pathogenic | rs63751301 | GRCh37 | Chr 3, 37090064: 37090067 |
| 538 | MLH1 | NM_000249.3(MLH1): c.195delC (p.Thr66Profs) | deletion | Pathogenic | rs267607715 | GRCh37 | Chr 3, 37038188: 37038188 |
| 539 | MLH1 | NM_000249.3(MLH1): c.1961C> T (p.Pro654Leu) | SNV | Pathogenic | rs63750726 | GRCh37 | Chr 3, 37090072: 37090072 |
| 540 | MLH1 | NM_000249.3(MLH1): c.1971delT (p.Leu658Phefs) | deletion | Pathogenic | rs63750115 | GRCh37 | Chr 3, 37090082: 37090082 |
| 541 | MLH1 | NM_000249.3(MLH1): c.1975C> T (p.Arg659Ter) | SNV | Pathogenic | rs63751310 | GRCh37 | Chr 3, 37090086: 37090086 |
| 542 | MLH1 | NM_000249.3(MLH1): c.1975_1976delCG (p.Arg659Thrfs) | deletion | Pathogenic | rs63750131 | GRCh37 | Chr 3, 37090086: 37090087 |
| 543 | MLH1 | NM_000249.3(MLH1): c.1976G> C (p.Arg659Pro) | SNV | Pathogenic | rs63749900 | GRCh37 | Chr 3, 37090087: 37090087 |
| 544 | MLH1 | NM_000249.3(MLH1): c.1976G> T (p.Arg659Leu) | SNV | Pathogenic | rs63749900 | GRCh37 | Chr 3, 37090087: 37090087 |
| 545 | MLH1 | NM_000249.3(MLH1): c.1976_1977delGA (p.Arg659Profs) | deletion | Pathogenic | rs63751200 | GRCh37 | Chr 3, 37090087: 37090088 |
| 546 | MLH1 | NM_000249.3(MLH1): c.1986_1989+1delinsC | indel | Pathogenic | rs267607873 | GRCh37 | Chr 3, 37090097: 37090101 |
| 547 | MLH1 | NM_000249.3(MLH1): c.1988delA (p.Glu663Glyfs) | deletion | Pathogenic | rs267607877 | GRCh37 | Chr 3, 37090099: 37090099 |
| 548 | MLH1 | NM_000249.3(MLH1): c.1989+1G> A | SNV | Pathogenic | rs267607879 | GRCh37 | Chr 3, 37090101: 37090101 |
| 549 | MLH1 | NM_000249.3(MLH1): c.1989+1G> T | SNV | Pathogenic | rs267607879 | GRCh37 | Chr 3, 37090101: 37090101 |
| 550 | MLH1 | NM_000249.3(MLH1): c.1989G> T (p.Glu663Asp) | SNV | Pathogenic | rs63751662 | GRCh37 | Chr 3, 37090100: 37090100 |
| 551 | MLH1 | NM_000249.3(MLH1): c.198dupC (p.Gly67Argfs) | duplication | Pathogenic | rs587778966 | GRCh37 | Chr 3, 37038191: 37038191 |
| 552 | MLH1 | NM_000249.3(MLH1): c.1990-1G> A | SNV | Pathogenic | rs267607884 | GRCh37 | Chr 3, 37090394: 37090394 |
| 553 | MLH1 | NM_000249.3(MLH1): c.1990-2A> G | SNV | Pathogenic | rs267607883 | GRCh37 | Chr 3, 37090393: 37090393 |
| 554 | MLH1 | NM_000249.3(MLH1): c.1990-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37090395: 37092337 |
| 555 | MLH1 | NM_000249.3(MLH1): c.1998G> A (p.Trp666Ter) | SNV | Pathogenic | rs63750639 | GRCh37 | Chr 3, 37090403: 37090403 |
| 556 | MLH1 | NM_000249.3(MLH1): c.199G> A (p.Gly67Arg) | SNV | Pathogenic | rs63750206 | GRCh37 | Chr 3, 37038192: 37038192 |
| 557 | MLH1 | NM_000249.3(MLH1): c.19_35del17 (p.Val7Argfs) | deletion | Pathogenic | rs267607702 | GRCh37 | Chr 3, 37035057: 37035073 |
| 558 | MLH1 | NM_000249.3(MLH1): c.2000dupA (p.Asp667Glufs) | duplication | Pathogenic | rs63750282 | GRCh37 | Chr 3, 37090405: 37090405 |
| 559 | MLH1 | NM_000249.3(MLH1): c.2006_2010delAAAAG (p.Glu669Glyfs) | deletion | Pathogenic | rs63750061 | GRCh37 | Chr 3, 37090411: 37090415 |
| 560 | MLH1 | NM_000249.3(MLH1): c.2009delA (p.Lys670Argfs) | deletion | Pathogenic | rs63750740 | GRCh37 | Chr 3, 37090414: 37090414 |
| 561 | MLH1 | NM_000249.3(MLH1): c.2011G> T (p.Glu671Ter) | SNV | Pathogenic | rs63750663 | GRCh37 | Chr 3, 37090416: 37090416 |
| 562 | MLH1 | NM_000249.3(MLH1): c.201delG (p.Ile68Serfs) | deletion | Pathogenic | rs587778968 | GRCh37 | Chr 3, 37038194: 37038194 |
| 563 | MLH1 | NM_000249.3(MLH1): c.2035G> T (p.Glu679Ter) | SNV | Pathogenic | rs587778971 | GRCh37 | Chr 3, 37090440: 37090440 |
| 564 | MLH1 | NM_000249.3(MLH1): c.2038T> C (p.Cys680Arg) | SNV | Likely pathogenic | rs63750809 | GRCh37 | Chr 3, 37090443: 37090443 |
| 565 | MLH1 | NM_000249.3(MLH1): c.2040C> A (p.Cys680Ter) | SNV | Pathogenic | rs63749867 | GRCh37 | Chr 3, 37090445: 37090445 |
| 566 | MLH1 | NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp) | SNV | Pathogenic | rs63751275 | GRCh37 | Chr 3, 37090464: 37090464 |
| 567 | MLH1 | NM_000249.3(MLH1): c.205delA (p.Arg69Glyfs) | deletion | Pathogenic | rs63751704 | GRCh37 | Chr 3, 37038198: 37038198 |
| 568 | MLH1 | NM_000249.3(MLH1): c.2067_2073delGTACATA (p.Gln689Hisfs) | deletion | Pathogenic | rs63750420 | GRCh37 | Chr 3, 37090472: 37090478 |
| 569 | MLH1 | NM_000249.3(MLH1): c.207+1245_884+523dup | duplication | Pathogenic | | GRCh37 | Chr 3, 37039445: 37059613 |
| 570 | MLH1 | NM_000249.3(MLH1): c.207+1560_546-871del | deletion | Pathogenic | | GRCh37 | Chr 3, 37039760: 37052440 |
| 571 | MLH1 | NM_000249.3(MLH1): c.207+1G> A | SNV | Likely pathogenic | rs267607718 | GRCh37 | Chr 3, 37038201: 37038201 |
| 572 | MLH1 | NM_000249.3(MLH1): c.2076_2077delTG (p.Glu693Glyfs) | deletion | Pathogenic | rs63750769 | GRCh37 | Chr 3, 37090481: 37090482 |
| 573 | MLH1 | NM_000249.3(MLH1): c.2078_2172del (p.Glu693Alafs*8) | deletion | Pathogenic | | | Chr na, -1: -1 |
| 574 | MLH1 | NM_000249.3(MLH1): c.208-1714_306+641delinsACATAGTA | indel | Pathogenic | | GRCh37 | Chr 3, 37040732: 37043185 |
| 575 | MLH1 | NM_000249.3(MLH1): c.208-1G> A | SNV | Pathogenic | rs267607717 | GRCh37 | Chr 3, 37042445: 37042445 |
| 576 | MLH1 | NM_000249.3(MLH1): c.208-1_208del | deletion | Pathogenic | rs587778973 | GRCh37 | Chr 3, 37042445: 37042446 |
| 577 | MLH1 | NM_000249.3(MLH1): c.208-2A> G | SNV | Pathogenic | rs267607716 | GRCh37 | Chr 3, 37042444: 37042444 |
| 578 | MLH1 | NM_000249.3(MLH1): c.208-?_306+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 579 | MLH1 | NM_000249.3(MLH1): c.208-?_453+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 580 | MLH1 | NM_000249.3(MLH1): c.208-?_545+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 581 | MLH1 | NM_000249.3(MLH1): c.208-?_790+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 582 | MLH1 | NM_000249.3(MLH1): c.2084C> A (p.Ser695Ter) | SNV | Pathogenic | rs63749995 | GRCh37 | Chr 3, 37090489: 37090489 |
| 583 | MLH1 | NM_000249.3(MLH1): c.2092_2093delTC (p.Ser698Argfs) | deletion | Pathogenic | rs63750859 | GRCh37 | Chr 3, 37090497: 37090498 |
| 584 | MLH1 | NM_000249.3(MLH1): c.2093C> G (p.Ser698Ter) | SNV | Pathogenic | rs587778975 | GRCh37 | Chr 3, 37090498: 37090498 |
| 585 | MLH1 | NM_000249.3(MLH1): c.2099_2102delAGCA (p.Gln700Argfs) | deletion | Pathogenic | rs63751652 | GRCh37 | Chr 3, 37090504: 37090507 |
| 586 | MLH1 | NM_000249.3(MLH1): c.2101C> T (p.Gln701Ter) | SNV | Pathogenic | rs63750114 | GRCh37 | Chr 3, 37090506: 37090506 |
| 587 | MLH1 | NM_000249.3(MLH1): c.2103+1G> A | SNV | Pathogenic | rs267607888 | GRCh37 | Chr 3, 37090509: 37090509 |
| 588 | MLH1 | NM_000249.3(MLH1): c.2103G> C (p.Gln701His) | SNV | Pathogenic | rs63750603 | GRCh37 | Chr 3, 37090508: 37090508 |
| 589 | MLH1 | NM_000249.3(MLH1): c.2104-2A> T | SNV | Pathogenic | rs267607889 | GRCh37 | Chr 3, 37091975: 37091975 |
| 590 | MLH1 | NM_000249.3(MLH1): c.2104-?_*(193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37091977: 37092337 |
| 591 | MLH1 | NM_000249.3(MLH1): c.2104_2105delAG (p.Ser702Terfs) | deletion | Pathogenic | rs63751651 | GRCh37 | Chr 3, 37091977: 37091978 |
| 592 | MLH1 | NM_000249.3(MLH1): c.2105_2114delGTGAAGTGCC (p.Ser702Metfs) | deletion | Pathogenic | rs587778979 | GRCh37 | Chr 3, 37091978: 37091987 |
| 593 | MLH1 | NM_000249.3(MLH1): c.210_213delAGAA (p.Glu71Ilefs) | deletion | Pathogenic | rs267607723 | GRCh37 | Chr 3, 37042448: 37042451 |
| 594 | MLH1 | NM_000249.3(MLH1): c.2111_2117delTGCCTGG (p.Val704Alafs) | deletion | Pathogenic | rs587778980 | GRCh37 | Chr 3, 37091984: 37091990 |
| 595 | MLH1 | NM_000249.3(MLH1): c.211G> T (p.Glu71Ter) | SNV | Pathogenic | rs63749829 | GRCh37 | Chr 3, 37042449: 37042449 |
| 596 | MLH1 | NM_000249.3(MLH1): c.2135G> A (p.Trp712Ter) | SNV | Pathogenic | rs63750561 | GRCh37 | Chr 3, 37092008: 37092008 |
| 597 | MLH1 | NM_000249.3(MLH1): c.2136G> A (p.Trp712Ter) | SNV | Pathogenic | rs63750499 | GRCh37 | Chr 3, 37092009: 37092009 |
| 598 | MLH1 | NM_000249.3(MLH1): c.213_215delAGA (p.Glu71del) | deletion | Pathogenic | rs63751642 | GRCh37 | Chr 3, 37042451: 37042453 |
| 599 | MLH1 | NM_000249.3(MLH1): c.2141G> A (p.Trp714Ter) | SNV | Pathogenic | rs63751022 | GRCh37 | Chr 3, 37092014: 37092014 |
| 600 | MLH1 | NM_000249.3(MLH1): c.2147_2148delTG (p.Val716Glyfs) | deletion | Pathogenic | rs587778981 | GRCh37 | Chr 3, 37092020: 37092021 |
| 601 | MLH1 | NM_000249.3(MLH1): c.2149_2195dup47 (p.His733Asnfs) | duplication | Pathogenic | rs587778982 | GRCh37 | Chr 3, 37092022: 37092068 |
| 602 | MLH1 | NM_000249.3(MLH1): c.2154_2155delCA (p.Ile719Cysfs) | deletion | Pathogenic | rs63750971 | GRCh37 | Chr 3, 37092027: 37092028 |
| 603 | MLH1 | NM_000249.3(MLH1): c.2154_2155dupCA (p.Ile719Thrfs) | duplication | Pathogenic | rs281864940 | GRCh37 | Chr 3, 37092027: 37092028 |
| 604 | MLH1 | NM_000249.3(MLH1): c.2157dupT (p.Val720Cysfs) | duplication | Pathogenic | rs587778984 | GRCh37 | Chr 3, 37092030: 37092030 |
| 605 | MLH1 | NM_000249.3(MLH1): c.2163T> A (p.Tyr721Ter) | SNV | Pathogenic | rs63750484 | GRCh37 | Chr 3, 37092036: 37092036 |
| 606 | MLH1 | NM_000249.3(MLH1): c.2179_2182delCACA (p.His727Phefs) | deletion | Pathogenic | rs267607898 | GRCh37 | Chr 3, 37092052: 37092055 |
| 607 | MLH1 | NM_000249.3(MLH1): c.2181_2182delCA (p.Ile728Serfs) | deletion | Pathogenic | rs587778987 | GRCh37 | Chr 3, 37092054: 37092055 |
| 608 | MLH1 | NM_000249.3(MLH1): c.2194A> T (p.Lys732Ter) | SNV | Pathogenic | rs267607906 | GRCh37 | Chr 3, 37092067: 37092067 |
| 609 | MLH1 | NM_000249.3(MLH1): c.2195_2198dupAACA (p.His733Glnfs) | duplication | Pathogenic | rs267607903 | GRCh37 | Chr 3, 37092068: 37092071 |
| 610 | MLH1 | NM_000249.3(MLH1): c.2218dupA (p.Ile740Asnfs) | duplication | Pathogenic | rs587778989 | GRCh37 | Chr 3, 37092091: 37092091 |
| 611 | MLH1 | NM_000249.3(MLH1): c.2221_2224delCTGCins30 (p.?) | indel | Pathogenic | rs587778990 | GRCh37 | Chr 3, 37092094: 37092097 |
| 612 | MLH1 | NM_000249.3(MLH1): c.2223_2233delGCAGCTTGCTA (p.Gln742Profs) | deletion | Pathogenic | rs267607897 | GRCh37 | Chr 3, 37092096: 37092106 |
| 613 | MLH1 | NM_000249.3(MLH1): c.2224C> T (p.Gln742Ter) | SNV | Pathogenic | rs587778992 | GRCh37 | Chr 3, 37092097: 37092097 |
| 614 | MLH1 | NM_000249.3(MLH1): c.2224delC (p.Gln742Serfs) | deletion | Pathogenic | rs267607896 | GRCh37 | Chr 3, 37092097: 37092097 |
| 615 | MLH1 | NM_000249.3(MLH1): c.2246T> C (p.Leu749Pro) | SNV | Pathogenic | rs267607894 | GRCh37 | Chr 3, 37092119: 37092119 |
| 616 | MLH1 | NM_000249.3(MLH1): c.2266_2269dupTGTT (p.Ter757Leufs) | duplication | Pathogenic | rs267607892 | GRCh37 | Chr 3, 37092139: 37092142 |
| 617 | MLH1 | NM_000249.3(MLH1): c.2269dupT (p.Ter757Leufs) | duplication | Pathogenic | rs267607892 | GRCh37 | Chr 3, 37092142: 37092142 |
| 618 | MLH1 | NM_000249.3(MLH1): c.229T> C (p.Cys77Arg) | SNV | Pathogenic | rs63749859 | GRCh37 | Chr 3, 37042467: 37042467 |
| 619 | MLH1 | NM_000249.3(MLH1): c.22dupA (p.Ile8Asnfs) | duplication | Pathogenic | rs587778996 | GRCh37 | Chr 3, 37035060: 37035060 |
| 620 | MLH1 | NM_000249.3(MLH1): c.230G> A (p.Cys77Tyr) | SNV | Pathogenic | rs63750437 | GRCh37 | Chr 3, 37042468: 37042468 |
| 621 | MLH1 | NM_000249.3(MLH1): c.231_232delTG (p.Cys77Terfs) | deletion | Pathogenic | rs63750052 | GRCh37 | Chr 3, 37042469: 37042470 |
| 622 | MLH1 | NM_000249.3(MLH1): c.232delG (p.Glu78Lysfs) | deletion | Pathogenic | rs587778997 | GRCh37 | Chr 3, 37042470: 37042470 |
| 623 | MLH1 | NM_000249.3(MLH1): c.238T> G (p.Phe80Val) | SNV | Pathogenic | rs63749990 | GRCh37 | Chr 3, 37042476: 37042476 |
| 624 | MLH1 | NM_000249.3(MLH1): c.244dupA (p.Thr82Asnfs) | duplication | Pathogenic | rs267607729 | GRCh37 | Chr 3, 37042482: 37042482 |
| 625 | MLH1 | NM_000249.3(MLH1): c.245C> T (p.Thr82Ile) | SNV | Pathogenic | rs63750005 | GRCh37 | Chr 3, 37042483: 37042483 |
| 626 | MLH1 | NM_000249.3(MLH1): c.256C> T (p.Gln86Ter) | SNV | Pathogenic | rs63751421 | GRCh37 | Chr 3, 37042494: 37042494 |
| 627 | MLH1 | NM_000249.3(MLH1): c.261delC (p.Phe88Leufs) | deletion | Pathogenic | rs267607728 | GRCh37 | Chr 3, 37042499: 37042499 |
| 628 | MLH1 | NM_000249.3(MLH1): c.265G> T (p.Glu89Ter) | SNV | Pathogenic | rs11541859 | GRCh37 | Chr 3, 37042503: 37042503 |
| 629 | MLH1 | NM_000249.3(MLH1): c.2T> A (p.Met1Lys) | SNV | Pathogenic | rs111052004 | GRCh37 | Chr 3, 37035040: 37035040 |
| 630 | MLH1 | NM_000249.3(MLH1): c.306+2dupT | duplication | Pathogenic | rs267607738 | GRCh37 | Chr 3, 37042546: 37042546 |
| 631 | MLH1 | NM_000249.3(MLH1): c.306+5G> A | SNV | Pathogenic | rs267607735 | GRCh37 | Chr 3, 37042549: 37042549 |
| 632 | MLH1 | NM_000249.3(MLH1): c.306G> C (p.Glu102Asp) | SNV | Pathogenic | rs63751665 | GRCh37 | Chr 3, 37042544: 37042544 |
| 633 | MLH1 | NM_000249.3(MLH1): c.307-1420_380+624del | deletion | Pathogenic | | GRCh37 | Chr 3, 37044472: 37046589 |
| 634 | MLH1 | NM_000249.3(MLH1): c.307-245_454-365del | deletion | Pathogenic | | GRCh37 | Chr 3, 37045647: 37049940 |
| 635 | MLH1 | NM_000249.3(MLH1): c.307-797_677+1061del | deletion | Pathogenic | | GRCh37 | Chr 3, 37045095: 37054651 |
| 636 | MLH1 | NM_000249.3(MLH1): c.307-820_380+896del | deletion | Pathogenic | | GRCh37 | Chr 3, 37045072: 37046861 |
| 637 | MLH1 | NM_000249.3(MLH1): c.307-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37045892: 37092337 |
| 638 | MLH1 | NM_000249.3(MLH1): c.307-?_545+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 639 | MLH1 | NM_000249.3(MLH1): c.31delC (p.Leu11Trpfs) | deletion | Pathogenic | rs63749816 | GRCh37 | Chr 3, 37035069: 37035069 |
| 640 | MLH1 | NM_000249.3(MLH1): c.320T> G (p.Ile107Arg) | SNV | Pathogenic | rs63750507 | GRCh37 | Chr 3, 37045905: 37045905 |
| 641 | MLH1 | NM_000249.3(MLH1): c.341delC (p.Thr114Ilefs) | deletion | Pathogenic | rs63750645 | GRCh37 | Chr 3, 37045926: 37045926 |
| 642 | MLH1 | NM_000249.3(MLH1): c.346delA (p.Thr116Glnfs) | deletion | Pathogenic | rs63750906 | GRCh37 | Chr 3, 37045931: 37045931 |
| 643 | MLH1 | NM_000249.3(MLH1): c.346dupA (p.Thr116Asnfs) | duplication | Pathogenic | rs267607739 | GRCh37 | Chr 3, 37045931: 37045931 |
| 644 | MLH1 | NM_000249.3(MLH1): c.354_355dupAA (p.Thr119Lysfs) | duplication | Pathogenic | rs63750658 | GRCh37 | Chr 3, 37045939: 37045940 |
| 645 | MLH1 | NM_000249.3(MLH1): c.367A> T (p.Lys123Ter) | SNV | Pathogenic | rs63750542 | GRCh37 | Chr 3, 37045952: 37045952 |
| 646 | MLH1 | NM_000249.3(MLH1): c.372_373delTG (p.Ala125Ilefs) | deletion | Pathogenic | rs587779006 | GRCh37 | Chr 3, 37045957: 37045958 |
| 647 | MLH1 | NM_000249.3(MLH1): c.378C> G (p.Tyr126Ter) | SNV | Pathogenic | rs63751606 | GRCh37 | Chr 3, 37045963: 37045963 |
| 648 | MLH1 | NM_000249.3(MLH1): c.378delC (p.Tyr126Terfs) | deletion | Pathogenic | rs63751607 | GRCh37 | Chr 3, 37045963: 37045963 |
| 649 | MLH1 | NM_000249.3(MLH1): c.37G> T (p.Glu13Ter) | SNV | Pathogenic | rs587779008 | GRCh37 | Chr 3, 37035075: 37035075 |
| 650 | MLH1 | NM_000249.3(MLH1): c.37delG (p.Glu13Argfs) | deletion | Pathogenic | rs63750081 | GRCh37 | Chr 3, 37035075: 37035075 |
| 651 | MLH1 | NM_000249.3(MLH1): c.380+2T> A | SNV | Pathogenic | rs267607742 | GRCh37 | Chr 3, 37045967: 37045967 |
| 652 | MLH1 | NM_000249.3(MLH1): c.381-415_453+733del | deletion | Pathogenic | | GRCh37 | Chr 3, 37048067: 37049287 |
| 653 | MLH1 | NM_000249.3(MLH1): c.381-?_545+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 654 | MLH1 | NM_000249.3(MLH1): c.382G> C (p.Ala128Pro) | SNV | Pathogenic | rs63750866 | GRCh37 | Chr 3, 37048483: 37048483 |
| 655 | MLH1 | NM_000249.3(MLH1): c.382_402del21insT (p.Ala128Serfs) | indel | Pathogenic | rs267607746 | GRCh37 | Chr 3, 37048483: 37048503 |
| 656 | MLH1 | NM_000249.3(MLH1): c.382delG (p.Ala128Glnfs) | deletion | Pathogenic | rs63750865 | GRCh37 | Chr 3, 37048483: 37048483 |
| 657 | MLH1 | NM_000249.3(MLH1): c.385_386delAGinsGTT (p.Ser129Valfs) | indel | Pathogenic | rs63751710 | GRCh37 | Chr 3, 37048486: 37048487 |
| 658 | MLH1 | NM_000249.3(MLH1): c.388delT (p.Tyr130Thrfs) | deletion | Pathogenic | rs587779009 | GRCh37 | Chr 3, 37048489: 37048489 |
| 659 | MLH1 | NM_000249.3(MLH1): c.389delA (p.Tyr130Serfs) | deletion | Pathogenic | rs587779012 | GRCh37 | Chr 3, 37048490: 37048490 |
| 660 | MLH1 | NM_000249.3(MLH1): c.38_39insCCCA (p.Glu13Aspfs) | insertion | Pathogenic | rs63750057 | GRCh37 | Chr 3, 37035076: 37035077 |
| 661 | MLH1 | NM_000249.3(MLH1): c.392C> A (p.Ser131Ter) | SNV | Pathogenic | rs63749818 | GRCh37 | Chr 3, 37048493: 37048493 |
| 662 | MLH1 | NM_000249.3(MLH1): c.397G> T (p.Gly133Ter) | SNV | Pathogenic | rs63751124 | GRCh37 | Chr 3, 37048498: 37048498 |
| 663 | MLH1 | NM_000249.3(MLH1): c.39_40dupGA (p.Thr14Argfs) | duplication | Pathogenic | rs587779013 | GRCh37 | Chr 3, 37035077: 37035078 |
| 664 | MLH1 | NM_000249.3(MLH1): c.404_407delTGAA (p.Leu135Glnfs) | deletion | Pathogenic | rs587779014 | GRCh37 | Chr 3, 37048505: 37048508 |
| 665 | MLH1 | NM_000249.3(MLH1): c.420delA (p.Lys140Asnfs) | deletion | Pathogenic | rs587779015 | GRCh37 | Chr 3, 37048521: 37048521 |
| 666 | MLH1 | NM_000249.3(MLH1): c.428dupC (p.Gly144Trpfs) | duplication | Pathogenic | rs63751045 | GRCh37 | Chr 3, 37048529: 37048529 |
| 667 | MLH1 | NM_000249.3(MLH1): c.436C> T (p.Gln146Ter) | SNV | Pathogenic | rs63749820 | GRCh37 | Chr 3, 37048537: 37048537 |
| 668 | MLH1 | NM_000249.3(MLH1): c.445C> T (p.Gln149Ter) | SNV | Pathogenic | rs63751302 | GRCh37 | Chr 3, 37048546: 37048546 |
| 669 | MLH1 | NM_000249.3(MLH1): c.44dupT (p.Val16Glyfs) | duplication | Pathogenic | rs63751131 | GRCh37 | Chr 3, 37035082: 37035082 |
| 670 | MLH1 | NM_000249.3(MLH1): c.453+2T> C | SNV | Pathogenic | rs267607751 | GRCh37 | Chr 3, 37048556: 37048556 |
| 671 | MLH1 | NM_000249.3(MLH1): c.454-432_546-1030del | deletion | Pathogenic | | GRCh37 | Chr 3, 37049873: 37052281 |
| 672 | MLH1 | NM_000249.3(MLH1): c.454-466_546-1062del | deletion | Pathogenic | | GRCh37 | Chr 3, 37049839: 37052249 |
| 673 | MLH1 | NM_000249.3(MLH1): c.454-505_546-1102del | deletion | Pathogenic | | GRCh37 | Chr 3, 37049800: 37052209 |
| 674 | MLH1 | NM_000249.3(MLH1): c.454-665_545+49del | deletion | Pathogenic | | GRCh37 | Chr 3, 37049640: 37050445 |
| 675 | MLH1 | NM_000249.3(MLH1): c.454-?_545+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 676 | MLH1 | NM_000249.3(MLH1): c.464T> G (p.Leu155Arg) | SNV | Pathogenic | rs63750891 | GRCh37 | Chr 3, 37050315: 37050315 |
| 677 | MLH1 | NM_000249.3(MLH1): c.468_469delTT (p.Phe156Leufs) | deletion | Pathogenic | rs267607758 | GRCh37 | Chr 3, 37050319: 37050320 |
| 678 | MLH1 | NM_000249.3(MLH1): c.488delG (p.Arg163Lysfs) | deletion | Pathogenic | rs267607754 | GRCh37 | Chr 3, 37050339: 37050339 |
| 679 | MLH1 | NM_000249.3(MLH1): c.497T> A (p.Leu166Ter) | SNV | Pathogenic | rs267607755 | GRCh37 | Chr 3, 37050348: 37050348 |
| 680 | MLH1 | NM_000249.3(MLH1): c.497delT (p.Leu166Terfs) | deletion | Pathogenic | rs587779018 | GRCh37 | Chr 3, 37050348: 37050348 |
| 681 | MLH1 | NM_000249.3(MLH1): c.502_503delAA (p.Asn168Serfs) | deletion | Pathogenic | rs267607756 | GRCh37 | Chr 3, 37050353: 37050354 |
| 682 | MLH1 | NM_000249.3(MLH1): c.503dupA (p.Asn168Lysfs) | duplication | Pathogenic | rs63749959 | GRCh37 | Chr 3, 37050354: 37050354 |
| 683 | MLH1 | NM_000249.3(MLH1): c.513delA (p.Glu172Asnfs) | deletion | Pathogenic | rs63749944 | GRCh37 | Chr 3, 37050364: 37050364 |
| 684 | MLH1 | NM_000249.3(MLH1): c.524_525insGA (p.Ile176Lysfs) | insertion | Pathogenic | rs587779019 | GRCh37 | Chr 3, 37050375: 37050376 |
| 685 | MLH1 | NM_000249.3(MLH1): c.52delC (p.Arg18Alafs) | deletion | Pathogenic | rs63749804 | GRCh37 | Chr 3, 37035090: 37035090 |
| 686 | MLH1 | NM_000249.3(MLH1): c.531_532delGGinsAT (p.Glu178Ter) | indel | Pathogenic | rs63750903 | GRCh37 | Chr 3, 37050382: 37050383 |
| 687 | MLH1 | NM_000249.3(MLH1): c.531_532delGGinsCT (p.Leu177_Glu178delinsPheTer) | indel | Pathogenic | rs63750903 | GRCh37 | Chr 3, 37050382: 37050383 |
| 688 | MLH1 | NM_000249.3(MLH1): c.544A> G (p.Arg182Gly) | SNV | Pathogenic | rs63750211 | GRCh37 | Chr 3, 37050395: 37050395 |
| 689 | MLH1 | NM_000249.3(MLH1): c.545+3A> G | SNV | Pathogenic | rs267607760 | GRCh37 | Chr 3, 37050399: 37050399 |
| 690 | MLH1 | NM_000249.3(MLH1): c.545G> A (p.Arg182Lys) | SNV | Pathogenic | rs587779021 | GRCh37 | Chr 3, 37050396: 37050396 |
| 691 | MLH1 | NM_000249.3(MLH1): c.546-2A> C | SNV | Pathogenic | rs267607759 | GRCh37 | Chr 3, 37053309: 37053309 |
| 692 | MLH1 | NM_000249.3(MLH1): c.546-2A> G | SNV | Pathogenic | rs267607759 | GRCh37 | Chr 3, 37053309: 37053309 |
| 693 | MLH1 | NM_000249.3(MLH1): c.546-361_885-811del | deletion | Pathogenic | | GRCh37 | Chr 3, 37052950: 37060990 |
| 694 | MLH1 | NM_000249.3(MLH1): c.546-?_1409+?dup | duplication | Pathogenic | | | Chr na, -1: -1 |
| 695 | MLH1 | NM_000249.3(MLH1): c.546-?_677+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 696 | MLH1 | NM_000249.3(MLH1): c.546-?_790+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 697 | MLH1 | NM_000249.3(MLH1): c.554T> G (p.Val185Gly) | SNV | Pathogenic | rs63750515 | GRCh37 | Chr 3, 37053319: 37053319 |
| 698 | MLH1 | NM_000249.3(MLH1): c.578C> G (p.Ser193Ter) | SNV | Pathogenic | rs63751480 | GRCh37 | Chr 3, 37053343: 37053343 |
| 699 | MLH1 | NM_000249.3(MLH1): c.586A> T (p.Lys196Ter) | SNV | Pathogenic | rs63750500 | GRCh37 | Chr 3, 37053351: 37053351 |
| 700 | MLH1 | NM_000249.3(MLH1): c.588+1G> T | SNV | Pathogenic | rs267607772 | GRCh37 | Chr 3, 37053354: 37053354 |
| 701 | MLH1 | NM_000249.3(MLH1): c.588+5G> A | SNV | Pathogenic | rs267607768 | GRCh37 | Chr 3, 37053358: 37053358 |
| 702 | MLH1 | NM_000249.3(MLH1): c.588delA (p.Lys196Asnfs) | deletion | Pathogenic | rs63751653 | GRCh37 | Chr 3, 37053353: 37053353 |
| 703 | MLH1 | NM_000249.3(MLH1): c.589-2A> G | SNV | Pathogenic | rs267607767 | GRCh37 | Chr 3, 37053500: 37053500 |
| 704 | MLH1 | NM_000249.3(MLH1): c.597_598delGA (p.Glu199Aspfs) | deletion | Pathogenic | rs63751637 | GRCh37 | Chr 3, 37053510: 37053511 |
| 705 | MLH1 | NM_000249.3(MLH1): c.5C> A (p.Ser2Ter) | SNV | Pathogenic | rs587779029 | GRCh37 | Chr 3, 37035043: 37035043 |
| 706 | MLH1 | NM_000249.3(MLH1): c.61delG (p.Ala21Argfs) | deletion | Pathogenic | rs63750581 | GRCh37 | Chr 3, 37035099: 37035099 |
| 707 | MLH1 | NM_000249.3(MLH1): c.62C> A (p.Ala21Glu) | SNV | Pathogenic | rs63750706 | GRCh37 | Chr 3, 37035100: 37035100 |
| 708 | MLH1 | NM_000249.3(MLH1): c.632_633insT (p.Thr212Asnfs) | insertion | Pathogenic | rs63750908 | GRCh37 | Chr 3, 37053545: 37053546 |
| 709 | MLH1 | NM_000249.3(MLH1): c.649delC (p.Arg217Alafs) | deletion | Pathogenic | rs63750380 | GRCh37 | Chr 3, 37053562: 37053562 |
| 710 | MLH1 | NM_000249.3(MLH1): c.665delA (p.Asn222Metfs) | deletion | Pathogenic | rs63751286 | GRCh37 | Chr 3, 37053578: 37053578 |
| 711 | MLH1 | NM_000249.3(MLH1): c.665dupA (p.Asn222Lysfs) | duplication | Pathogenic | rs63750385 | GRCh37 | Chr 3, 37053578: 37053578 |
| 712 | MLH1 | NM_000249.3(MLH1): c.672delT (p.Ser225Valfs) | deletion | Pathogenic | rs587779031 | GRCh37 | Chr 3, 37053585: 37053585 |
| 713 | MLH1 | NM_000249.3(MLH1): c.673_676delAGTC (p.Ser225Glufs) | deletion | Pathogenic | rs267607774 | GRCh37 | Chr 3, 37053586: 37053589 |
| 714 | MLH1 | NM_000249.3(MLH1): c.677+1G> T | SNV | Pathogenic | rs267607778 | GRCh37 | Chr 3, 37053591: 37053591 |
| 715 | MLH1 | NM_000249.3(MLH1): c.677+1delG | deletion | Pathogenic | rs267607779 | GRCh37 | Chr 3, 37053591: 37053591 |
| 716 | MLH1 | NM_000249.3(MLH1): c.677+3A> G | SNV | Pathogenic | rs267607780 | GRCh37 | Chr 3, 37053593: 37053593 |
| 717 | MLH1 | NM_000249.3(MLH1): c.677G> A (p.Arg226Gln) | SNV | Pathogenic | rs63751711 | GRCh37 | Chr 3, 37053590: 37053590 |
| 718 | MLH1 | NM_000249.3(MLH1): c.677G> T (p.Arg226Leu) | SNV | Likely pathogenic | rs63751711 | GRCh37 | Chr 3, 37053590: 37053590 |
| 719 | MLH1 | NM_000249.3(MLH1): c.677_677+1delinsAT | indel | Pathogenic | rs587779032 | GRCh37 | Chr 3, 37053590: 37053591 |
| 720 | MLH1 | NM_000249.3(MLH1): c.678-1G> C | SNV | Pathogenic | rs267607784 | GRCh37 | Chr 3, 37055922: 37055922 |
| 721 | MLH1 | NM_000249.3(MLH1): c.678-3_678-2del | deletion | Pathogenic | rs267607783 | GRCh37 | Chr 3, 37055920: 37055921 |
| 722 | MLH1 | NM_000249.3(MLH1): c.678-9_693del | deletion | Pathogenic | rs587779036 | GRCh37 | Chr 3, 37055914: 37055938 |
| 723 | MLH1 | NM_000249.3(MLH1): c.678-?_1558+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 724 | MLH1 | NM_000249.3(MLH1): c.678-?_884+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 725 | MLH1 | NM_000249.3(MLH1): c.67G> T (p.Glu23Ter) | SNV | Pathogenic | rs63750823 | GRCh37 | Chr 3, 37035105: 37035105 |
| 726 | MLH1 | NM_000249.3(MLH1): c.67delG (p.Glu23Lysfs) | deletion | Pathogenic | rs63750822 | GRCh37 | Chr 3, 37035105: 37035105 |
| 727 | MLH1 | NM_000249.3(MLH1): c.683dupT (p.Ile229Aspfs) | duplication | Pathogenic | rs63751659 | GRCh37 | Chr 3, 37055928: 37055928 |
| 728 | MLH1 | NM_000249.3(MLH1): c.693delT (p.Ile231Metfs) | deletion | Pathogenic | rs63750764 | GRCh37 | Chr 3, 37055938: 37055938 |
| 729 | MLH1 | NM_000249.3(MLH1): c.70delG (p.Val24Leufs) | deletion | Pathogenic | rs63751396 | GRCh37 | Chr 3, 37035108: 37035108 |
| 730 | MLH1 | NM_000249.3(MLH1): c.727_730delAATG (p.Asn243Valfs) | deletion | Pathogenic | rs267607787 | GRCh37 | Chr 3, 37055972: 37055975 |
| 731 | MLH1 | NM_000249.3(MLH1): c.731G> A (p.Gly244Asp) | SNV | Pathogenic | rs63750303 | GRCh37 | Chr 3, 37055976: 37055976 |
| 732 | MLH1 | NM_000249.3(MLH1): c.731_734delGTTA (p.Gly244Alafs) | deletion | Pathogenic | rs587779037 | GRCh37 | Chr 3, 37055976: 37055979 |
| 733 | MLH1 | NM_000249.3(MLH1): c.739T> C (p.Ser247Pro) | SNV | Pathogenic | rs63750948 | GRCh37 | Chr 3, 37055984: 37055984 |
| 734 | MLH1 | NM_000249.3(MLH1): c.73delA (p.Ile25Serfs) | deletion | Pathogenic | rs63749839 | GRCh37 | Chr 3, 37035111: 37035111 |
| 735 | MLH1 | NM_000249.3(MLH1): c.745dupG (p.Ala249Glyfs) | duplication | Pathogenic | rs63750819 | GRCh37 | Chr 3, 37055990: 37055990 |
| 736 | MLH1 | NM_000249.3(MLH1): c.76C> T (p.Gln26Ter) | SNV | Pathogenic | rs63749827 | GRCh37 | Chr 3, 37035114: 37035114 |
| 737 | MLH1 | NM_000249.3(MLH1): c.76delC (p.Gln26Serfs) | deletion | Pathogenic | rs63749828 | GRCh37 | Chr 3, 37035114: 37035114 |
| 738 | MLH1 | NM_000249.3(MLH1): c.779T> G (p.Leu260Arg) | SNV | Pathogenic | rs63751283 | GRCh37 | Chr 3, 37056024: 37056024 |
| 739 | MLH1 | NM_000249.3(MLH1): c.78delG (p.Gln26Hisfs) | deletion | Pathogenic | rs587779040 | GRCh37 | Chr 3, 37035116: 37035116 |
| 740 | MLH1 | NM_000249.3(MLH1): c.790+1G> A | SNV | Pathogenic | rs267607789 | GRCh37 | Chr 3, 37056036: 37056036 |
| 741 | MLH1 | NM_000249.3(MLH1): c.790+1delG | deletion | Pathogenic | rs267607798 | GRCh37 | Chr 3, 37056036: 37056036 |
| 742 | MLH1 | NM_000249.3(MLH1): c.790+2T> C | SNV | Pathogenic | rs267607790 | GRCh37 | Chr 3, 37056037: 37056037 |
| 743 | MLH1 | NM_000249.3(MLH1): c.790+2dupT | duplication | Pathogenic | rs267607791 | GRCh37 | Chr 3, 37056037: 37056037 |
| 744 | MLH1 | NM_000249.3(MLH1): c.791-1G> C | SNV | Pathogenic | rs267607795 | GRCh37 | Chr 3, 37058996: 37058996 |
| 745 | MLH1 | NM_000249.3(MLH1): c.791-2A> G | SNV | Likely pathogenic | rs267607794 | GRCh37 | Chr 3, 37058995: 37058995 |
| 746 | MLH1 | NM_000249.3(MLH1): c.791-4_795del | deletion | Pathogenic | rs587779041 | GRCh37 | Chr 3, 37058993: 37059001 |
| 747 | MLH1 | NM_000249.3(MLH1): c.791-5T> G | SNV | Pathogenic | rs267607788 | GRCh37 | Chr 3, 37058992: 37058992 |
| 748 | MLH1 | NM_000249.3(MLH1): c.791-?_1558+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 749 | MLH1 | NM_000249.3(MLH1): c.791-?_884+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 750 | MLH1 | NM_000249.3(MLH1): c.791_794delATCG (p.His264Leufs) | deletion | Pathogenic | rs267607799 | GRCh37 | Chr 3, 37058997: 37059000 |
| 751 | MLH1 | NM_000249.3(MLH1): c.793C> A (p.Arg265Ser) | SNV | Likely pathogenic | rs63751194 | GRCh37 | Chr 3, 37058999: 37058999 |
| 752 | MLH1 | NM_000249.3(MLH1): c.808_811delACTT (p.Thr270Profs) | deletion | Pathogenic | rs267607801 | GRCh37 | Chr 3, 37059014: 37059017 |
| 753 | MLH1 | NM_000249.3(MLH1): c.811_815delTCCTT (p.Ser271Glufs) | deletion | Pathogenic | rs587779043 | GRCh37 | Chr 3, 37059017: 37059021 |
| 754 | MLH1 | NM_000249.3(MLH1): c.821_824dupAAGC (p.Ile276Serfs) | duplication | Pathogenic | rs63751439 | GRCh37 | Chr 3, 37059027: 37059030 |
| 755 | MLH1 | NM_000249.3(MLH1): c.83C> T (p.Pro28Leu) | SNV | Pathogenic | rs63750792 | GRCh37 | Chr 3, 37035121: 37035121 |
| 756 | MLH1 | NM_000249.3(MLH1): c.840T> A (p.Tyr280Ter) | SNV | Pathogenic | rs63750938 | GRCh37 | Chr 3, 37059046: 37059046 |
| 757 | MLH1 | NM_000249.3(MLH1): c.842C> T (p.Ala281Val) | SNV | Pathogenic | rs63749950 | GRCh37 | Chr 3, 37059048: 37059048 |
| 758 | MLH1 | NM_000249.3(MLH1): c.84delA (p.Ala29Leufs) | deletion | Pathogenic | rs587779045 | GRCh37 | Chr 3, 37035122: 37035122 |
| 759 | MLH1 | NM_000249.3(MLH1): c.851T> A (p.Leu284Ter) | SNV | Pathogenic | rs63750889 | GRCh37 | Chr 3, 37059057: 37059057 |
| 760 | MLH1 | NM_000249.3(MLH1): c.856_857insT (p.Lys286Ilefs) | insertion | Pathogenic | rs63750212 | GRCh37 | Chr 3, 37059062: 37059063 |
| 761 | MLH1 | NM_000249.3(MLH1): c.859_860delAA (p.Asn287Hisfs) | deletion | Pathogenic | rs63750034 | GRCh37 | Chr 3, 37059065: 37059066 |
| 762 | MLH1 | NM_000249.3(MLH1): c.860delA (p.Asn287Thrfs) | deletion | Pathogenic | rs587779046 | GRCh37 | Chr 3, 37059066: 37059066 |
| 763 | MLH1 | NM_000249.3(MLH1): c.860dupA (p.Asn287Lysfs) | duplication | Pathogenic | rs63750814 | GRCh37 | Chr 3, 37059066: 37059066 |
| 764 | MLH1 | NM_000249.3(MLH1): c.866_867delAC (p.His289Profs) | deletion | Pathogenic | rs587779047 | GRCh37 | Chr 3, 37059072: 37059073 |
| 765 | MLH1 | NM_000249.3(MLH1): c.866_867dupAC (p.Pro290Thrfs) | duplication | Pathogenic | rs587779048 | GRCh37 | Chr 3, 37059072: 37059073 |
| 766 | MLH1 | NM_000249.3(MLH1): c.86C> G (p.Ala29Gly) | SNV | Pathogenic | rs63750216 | GRCh37 | Chr 3, 37035124: 37035124 |
| 767 | MLH1 | NM_000249.3(MLH1): c.882C> T (p.Leu294=) | SNV | Pathogenic | rs63751707 | GRCh37 | Chr 3, 37059088: 37059088 |
| 768 | MLH1 | NM_000249.3(MLH1): c.883A> C (p.Ser295Arg) | SNV | Pathogenic | rs63751598 | GRCh37 | Chr 3, 37059089: 37059089 |
| 769 | MLH1 | NM_000249.3(MLH1): c.883A> G (p.Ser295Gly) | SNV | Pathogenic | rs63751598 | GRCh37 | Chr 3, 37059089: 37059089 |
| 770 | MLH1 | NM_000249.3(MLH1): c.884+4A> G | SNV | Pathogenic | rs267607777 | GRCh37 | Chr 3, 37059094: 37059094 |
| 771 | MLH1 | NM_000249.3(MLH1): c.884G> A (p.Ser295Asn) | SNV | Pathogenic | rs63750144 | GRCh37 | Chr 3, 37059090: 37059090 |
| 772 | MLH1 | NM_000249.3(MLH1): c.884_884+3del | deletion | Pathogenic | rs587779050 | GRCh37 | Chr 3, 37059090: 37059093 |
| 773 | MLH1 | NM_000249.3(MLH1): c.885-206_997del | deletion | Pathogenic | | GRCh37 | Chr 3, 37061595: 37061913 |
| 774 | MLH1 | NM_000249.3(MLH1): c.885-493_1039-372del | deletion | Pathogenic | | GRCh37 | Chr 3, 37061308: 37066756 |
| 775 | MLH1 | NM_000249.3(MLH1): c.885-594_1038+1123del | deletion | Pathogenic | | GRCh37 | Chr 3, 37061207: 37063077 |
| 776 | MLH1 | NM_000249.3(MLH1): c.885-?_(*193_?)del | deletion | Pathogenic | | GRCh37 | Chr 3, 37061801: 37092337 |
| 777 | MLH1 | NM_000249.3(MLH1): c.885-?_1038+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 778 | MLH1 | NM_000249.3(MLH1): c.885-?_1731+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 779 | MLH1 | NM_000249.3(MLH1): c.887T> G (p.Leu296Ter) | SNV | Pathogenic | rs63750547 | GRCh37 | Chr 3, 37061803: 37061803 |
| 780 | MLH1 | NM_000249.3(MLH1): c.887dupT (p.Leu296Phefs) | duplication | Pathogenic | rs63751620 | GRCh37 | Chr 3, 37061803: 37061803 |
| 781 | MLH1 | NM_000249.3(MLH1): c.888delA (p.Glu297Lysfs) | deletion | Pathogenic | rs267607809 | GRCh37 | Chr 3, 37061804: 37061804 |
| 782 | MLH1 | NM_000249.3(MLH1): c.889G> T (p.Glu297Ter) | SNV | Pathogenic | rs63750736 | GRCh37 | Chr 3, 37061805: 37061805 |
| 783 | MLH1 | NM_000249.3(MLH1): c.901C> T (p.Gln301Ter) | SNV | Pathogenic | rs63750489 | GRCh37 | Chr 3, 37061817: 37061817 |
| 784 | MLH1 | NM_000249.3(MLH1): c.901delC (p.Gln301Argfs) | deletion | Pathogenic | rs587779052 | GRCh37 | Chr 3, 37061817: 37061817 |
| 785 | MLH1 | NM_000249.3(MLH1): c.921_922dupGC (p.His308Argfs) | duplication | Pathogenic | rs63750962 | GRCh37 | Chr 3, 37061837: 37061838 |
| 786 | MLH1 | NM_000249.3(MLH1): c.928delA (p.Thr310Glnfs) | deletion | Pathogenic | rs587779055 | GRCh37 | Chr 3, 37061844: 37061844 |
| 787 | MLH1 | NM_000249.3(MLH1): c.935dupA (p.His312Glnfs) | duplication | Pathogenic | rs63750319 | GRCh37 | Chr 3, 37061851: 37061851 |
| 788 | MLH1 | NM_000249.3(MLH1): c.939dupA (p.Val314Serfs) | duplication | Pathogenic | rs63751259 | GRCh37 | Chr 3, 37061855: 37061855 |
| 789 | MLH1 | NM_000249.3(MLH1): c.954delC (p.His318Glnfs) | deletion | Pathogenic | rs63749926 | GRCh37 | Chr 3, 37061870: 37061870 |
| 790 | MLH1 | NM_000249.3(MLH1): c.955G> T (p.Glu319Ter) | SNV | Pathogenic | rs63750796 | GRCh37 | Chr 3, 37061871: 37061871 |
| 791 | MLH1 | NM_000249.3(MLH1): c.982C> T (p.Gln328Ter) | SNV | Pathogenic | rs587779058 | GRCh37 | Chr 3, 37061898: 37061898 |
| 792 | MLH1 | NM_000249.3(MLH1): c.994delA (p.Ser332Alafs) | deletion | Pathogenic | rs63750533 | GRCh37 | Chr 3, 37061910: 37061910 |
| 793 | MLH1 | NM_000249.3(MLH1): c.9delC (p.Phe3Leufs) | deletion | Pathogenic | rs63750745 | GRCh37 | Chr 3, 37035047: 37035047 |
| 794 | MSH2 | NM_000251.1(MSH2): c.(?_-68)_(*272_?)del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 795 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_1076+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47643568 |
| 796 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_1276+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47657080 |
| 797 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_1386+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47672796 |
| 798 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_1661+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47693947 |
| 799 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_1759+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47698201 |
| 800 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_211+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47630541 |
| 801 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_2634+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47708010 |
| 802 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_366+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47635694 |
| 803 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_645+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47637511 |
| 804 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_792+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47639699 |
| 805 | MSH2 | NM_000251.2(MSH2): c.(?_-68)_942+?del | deletion | Pathogenic | | GRCh37 | Chr 2, 47630263: 47641557 |
| 806 | MSH2 | NM_000251.1(MSH2): c.-11844_1077-6021delins155 | indel | Pathogenic | | | Chr na, -1: -1 |
| 807 | MSH2 | NM_000251.1(MSH2): c.-1753_645+922del | deletion | Pathogenic | | GRCh37 | Chr 2, 47628578: 47638433 |
| 808 | MSH2 | NM_000251.1(MSH2): c.-35298_1276+5697del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 809 | MSH2 | NM_000251.1(MSH2): c.-47156_1277-4980del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 810 | MSH2 | NM_000251.1(MSH2): c.-4729_367-353del | deletion | Pathogenic | | GRCh37 | Chr 2, 47625602: 47636880 |
| 811 | MSH2 | NM_000251.1(MSH2): c.-75398_1759+1708del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 812 | MSH2 | NM_000251.1(MSH2): c.-823_1076+5984del | deletion | Pathogenic | | GRCh37 | Chr 2, 47629508: 47649552 |
| 813 | MSH2 | NM_000251.1(MSH2): c.-956_1077-5607del | deletion | Pathogenic | | GRCh37 | Chr 2, 47629375: 47651274 |
| 814 | MSH2 | NM_000251.2(MSH2): c.1000A> T (p.Lys334Ter) | SNV | Pathogenic | rs587779063 | GRCh37 | Chr 2, 47643492: 47643492 |
| 815 | MSH2 | NM_000251.2(MSH2): c.1007delC (p.Pro336Leufs) | deletion | Pathogenic | rs587779064 | GRCh37 | Chr 2, 47643499: 47643499 |
| 816 | MSH2 | NM_000251.2(MSH2): c.1009C> T (p.Gln337Ter) | SNV | Pathogenic | rs63750778 | GRCh37 | Chr 2, 47643501: 47643501 |
| 817 | MSH2 | NM_000251.2(MSH2): c.1013G> A (p.Gly338Glu) | SNV | Pathogenic | rs587779065 | GRCh37 | Chr 2, 47643505: 47643505 |
| 818 | MSH2 | NM_000251.2(MSH2): c.1017_1018delAA (p.Arg340Thrfs) | deletion | Pathogenic | rs63750703 | GRCh37 | Chr 2, 47643509: 47643510 |
| 819 | MSH2 | NM_000251.2(MSH2): c.1018dupA (p.Arg340Lysfs) | duplication | Pathogenic | rs587779066 | GRCh37 | Chr 2, 47643510: 47643510 |
| 820 | MSH2 | NM_000251.2(MSH2): c.1034G> A (p.Trp345Ter) | SNV | Pathogenic | rs63751027 | GRCh37 | Chr 2, 47643526: 47643526 |
| 821 | MSH2 | NM_000251.2(MSH2): c.1035G> A (p.Trp345Ter) | SNV | Pathogenic | rs63750396 | GRCh37 | Chr 2, 47643527: 47643527 |
| 822 | MSH2 | NM_000251.2(MSH2): c.1037_1038dupTT (p.Lys347Leufs) | duplication | Pathogenic | rs63751483 | GRCh37 | Chr 2, 47643529: 47643530 |
| 823 | MSH2 | NM_000251.2(MSH2): c.1046C> T (p.Pro349Leu) | SNV | Pathogenic | rs587779067 | GRCh37 | Chr 2, 47643538: 47643538 |
| 824 | MSH2 | NM_000251.2(MSH2): c.1059delG (p.Asn354Thrfs) | deletion | Pathogenic | rs587779068 | GRCh37 | Chr 2, 47643551: 47643551 |
| 825 | MSH2 | NM_000251.2(MSH2): c.1075A> T (p.Arg359Ter) | SNV | Pathogenic | rs587779070 | GRCh37 | Chr 2, 47643567: 47643567 |
| 826 | MSH2 | NM_000251.2(MSH2): c.1076+1G> A | SNV | Pathogenic | rs267607940 | GRCh37 | Chr 2, 47643569: 47643569 |
| 827 | MSH2 | NM_000251.2(MSH2): c.1077-135_1276+119dup | duplication | Pathogenic | | GRCh37 | Chr 2, 47656746: 47657199 |
| 828 | MSH2 | NM_000251.2(MSH2): c.1077-220_1276+6245del | deletion | Pathogenic | | GRCh37 | Chr 2, 47656661: 47663325 |
| 829 | MSH2 | NM_000251.2(MSH2): c.1077-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47656881: 47710360 |
| 830 | MSH2 | NM_000251.2(MSH2): c.1077-?_1276+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 831 | MSH2 | NM_000251.2(MSH2): c.1077-?_1276+?dup200 | duplication | Pathogenic | | | Chr na, -1: -1 |
| 832 | MSH2 | NM_000251.2(MSH2): c.1077-?_1386+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 833 | MSH2 | NM_000251.2(MSH2): c.1077-?_1661+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 834 | MSH2 | NM_000251.2(MSH2): c.1077-?_2005+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 835 | MSH2 | NM_000251.2(MSH2): c.1077A> T (p.Arg359Ser) | SNV | Pathogenic | rs63751617 | GRCh37 | Chr 2, 47656881: 47656881 |
| 836 | MSH2 | NM_000251.2(MSH2): c.1077_1078ins173 (p.?) | insertion | Pathogenic | | GRCh37 | Chr 2, 47656881: 47656882 |
| 837 | MSH2 | NM_000251.2(MSH2): c.1097_1098insA (p.Phe366Leufs) | insertion | Pathogenic | rs267607693 | GRCh37 | Chr 2, 47656901: 47656902 |
| 838 | MSH2 | NM_000251.2(MSH2): c.1099delG (p.Val367Terfs) | deletion | Pathogenic | rs587779073 | GRCh37 | Chr 2, 47656903: 47656903 |
| 839 | MSH2 | NM_000251.2(MSH2): c.1108delG (p.Ala370Glnfs) | deletion | Pathogenic | rs63749814 | GRCh37 | Chr 2, 47656912: 47656912 |
| 840 | MSH2 | NM_000251.2(MSH2): c.110delT (p.Phe37Serfs) | deletion | Pathogenic | rs63751056 | GRCh37 | Chr 2, 47630440: 47630440 |
| 841 | MSH2 | NM_000251.2(MSH2): c.1119delG (p.Arg373Serfs) | deletion | Pathogenic | rs63750516 | GRCh37 | Chr 2, 47656923: 47656923 |
| 842 | MSH2 | NM_000251.2(MSH2): c.1120C> T (p.Gln374Ter) | SNV | Pathogenic | rs63750558 | GRCh37 | Chr 2, 47656924: 47656924 |
| 843 | MSH2 | NM_000251.2(MSH2): c.1127_1128dupTA (p.Gln377Tyrfs) | duplication | Pathogenic | rs63751219 | GRCh37 | Chr 2, 47656931: 47656932 |
| 844 | MSH2 | NM_000251.2(MSH2): c.1129C> T (p.Gln377Ter) | SNV | Pathogenic | rs63750267 | GRCh37 | Chr 2, 47656933: 47656933 |
| 845 | MSH2 | NM_000251.2(MSH2): c.1139delT (p.Leu380Tyrfs) | deletion | Pathogenic | rs63750039 | GRCh37 | Chr 2, 47656943: 47656943 |
| 846 | MSH2 | NM_000251.2(MSH2): c.1144dupC (p.Arg382Profs) | duplication | Pathogenic | rs63750496 | GRCh37 | Chr 2, 47656948: 47656948 |
| 847 | MSH2 | NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter) | SNV | Pathogenic | rs63749849 | GRCh37 | Chr 2, 47656951: 47656951 |
| 848 | MSH2 | NM_000251.2(MSH2): c.1165C> T (p.Arg389Ter) | SNV | Pathogenic | rs587779075 | GRCh37 | Chr 2, 47656969: 47656969 |
| 849 | MSH2 | NM_000251.2(MSH2): c.1183C> T (p.Gln395Ter) | SNV | Pathogenic | rs63750302 | GRCh37 | Chr 2, 47656987: 47656987 |
| 850 | MSH2 | NM_000251.2(MSH2): c.1189C> T (p.Gln397Ter) | SNV | Pathogenic | rs63750611 | GRCh37 | Chr 2, 47656993: 47656993 |
| 851 | MSH2 | NM_000251.2(MSH2): c.1192dupG (p.Ala398Glyfs) | duplication | Pathogenic | rs63751169 | GRCh37 | Chr 2, 47656996: 47656996 |
| 852 | MSH2 | NM_000251.2(MSH2): c.1196_1197dupCA (p.Asn400Glnfs) | duplication | Pathogenic | rs63749850 | GRCh37 | Chr 2, 47657000: 47657001 |
| 853 | MSH2 | NM_000251.2(MSH2): c.119delG (p.Gly40Alafs) | deletion | Pathogenic | rs63750984 | GRCh37 | Chr 2, 47630449: 47630449 |
| 854 | MSH2 | NM_000251.2(MSH2): c.1203dupA (p.Gln402Thrfs) | duplication | Pathogenic | rs63750586 | GRCh37 | Chr 2, 47657007: 47657007 |
| 855 | MSH2 | NM_000251.2(MSH2): c.1204C> T (p.Gln402Ter) | SNV | Pathogenic | rs63751412 | GRCh37 | Chr 2, 47657008: 47657008 |
| 856 | MSH2 | NM_000251.2(MSH2): c.1204delC (p.Gln402Lysfs) | deletion | Pathogenic | rs63751413 | GRCh37 | Chr 2, 47657008: 47657008 |
| 857 | MSH2 | NM_000251.2(MSH2): c.1215C> A (p.Tyr405Ter) | SNV | Pathogenic | rs63751271 | GRCh37 | Chr 2, 47657019: 47657019 |
| 858 | MSH2 | NM_000251.2(MSH2): c.1216_1219dupCGAC (p.Leu407Profs) | duplication | Pathogenic | rs63751192 | GRCh37 | Chr 2, 47657020: 47657023 |
| 859 | MSH2 | NM_000251.2(MSH2): c.1221_1222delCT (p.Tyr408Serfs) | deletion | Pathogenic | rs587779076 | GRCh37 | Chr 2, 47657025: 47657026 |
| 860 | MSH2 | NM_000251.2(MSH2): c.1222dupT (p.Tyr408Leufs) | duplication | Pathogenic | rs63751142 | GRCh37 | Chr 2, 47657026: 47657026 |
| 861 | MSH2 | NM_000251.2(MSH2): c.1226_1227delAG (p.Gln409Argfs) | deletion | Pathogenic | rs63750086 | GRCh37 | Chr 2, 47657030: 47657031 |
| 862 | MSH2 | NM_000251.2(MSH2): c.1243_1246delCCTA (p.Pro415Metfs) | deletion | Pathogenic | rs63751206 | GRCh37 | Chr 2, 47657047: 47657050 |
| 863 | MSH2 | NM_000251.2(MSH2): c.1249_1253delGTTAT (p.Val417Thrfs) | deletion | Pathogenic | rs587779079 | GRCh37 | Chr 2, 47657053: 47657057 |
| 864 | MSH2 | NM_000251.2(MSH2): c.1249delG (p.Val417Leufs) | deletion | Pathogenic | rs63751059 | GRCh37 | Chr 2, 47657053: 47657053 |
| 865 | MSH2 | NM_000251.2(MSH2): c.1255C> T (p.Gln419Ter) | SNV | Pathogenic | rs63750006 | GRCh37 | Chr 2, 47657059: 47657059 |
| 866 | MSH2 | NM_000251.2(MSH2): c.1264G> T (p.Glu422Ter) | SNV | Pathogenic | rs63751712 | GRCh37 | Chr 2, 47657068: 47657068 |
| 867 | MSH2 | NM_000251.2(MSH2): c.1269dupA (p.His424Thrfs) | duplication | Pathogenic | rs63751667 | GRCh37 | Chr 2, 47657073: 47657073 |
| 868 | MSH2 | NM_000251.2(MSH2): c.1276+1G> A | SNV | Pathogenic | rs267607950 | GRCh37 | Chr 2, 47657081: 47657081 |
| 869 | MSH2 | NM_000251.1(MSH2): c.1276+232_1386+3798del | deletion | Pathogenic | | GRCh37 | Chr 2, 47657312: 47676594 |
| 870 | MSH2 | NM_000251.2(MSH2): c.1277-2A> G | SNV | Pathogenic | rs267607949 | GRCh37 | Chr 2, 47672685: 47672685 |
| 871 | MSH2 | NM_000251.2(MSH2): c.1277-572_1386+2326del | deletion | Pathogenic | | GRCh37 | Chr 2, 47672115: 47675122 |
| 872 | MSH2 | NM_000251.2(MSH2): c.1277-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47672687: 47710360 |
| 873 | MSH2 | NM_000251.2(MSH2): c.1277-?_*(272_?)inv | inversion | Pathogenic | | GRCh37 | Chr 2, 47672687: 47710360 |
| 874 | MSH2 | NM_000251.2(MSH2): c.1277-?_1386+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 875 | MSH2 | NM_000251.2(MSH2): c.1277-?_1661+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 876 | MSH2 | NM_000251.2(MSH2): c.1277-?_1759+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 877 | MSH2 | NM_000251.2(MSH2): c.1277-?_2634+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 878 | MSH2 | NM_000251.2(MSH2): c.1285C> T (p.Gln429Ter) | SNV | Pathogenic | rs63751693 | GRCh37 | Chr 2, 47672695: 47672695 |
| 879 | MSH2 | NM_000251.2(MSH2): c.1287dupG (p.Lys430Glufs) | duplication | Pathogenic | rs63751626 | GRCh37 | Chr 2, 47672697: 47672697 |
| 880 | MSH2 | NM_000251.2(MSH2): c.1288A> T (p.Lys430Ter) | SNV | Pathogenic | rs63751646 | GRCh37 | Chr 2, 47672698: 47672698 |
| 881 | MSH2 | NM_000251.2(MSH2): c.1292T> A (p.Leu431Ter) | SNV | Pathogenic | rs63751315 | GRCh37 | Chr 2, 47672702: 47672702 |
| 882 | MSH2 | NM_000251.2(MSH2): c.129T> G (p.Tyr43Ter) | SNV | Pathogenic | rs63750894 | GRCh37 | Chr 2, 47630459: 47630459 |
| 883 | MSH2 | NM_000251.2(MSH2) | indel | Pathogenic | | GRCh37 | Chr 2, 47672721: 47672744 |
| 884 | MSH2 | NM_000251.2(MSH2): c.1318_1319delCT (p.Leu440Tyrfs) | deletion | Pathogenic | rs587779083 | GRCh37 | Chr 2, 47672728: 47672729 |
| 885 | MSH2 | NM_000251.2(MSH2): c.1319T> C (p.Leu440Pro) | SNV | Pathogenic | rs587779084 | GRCh37 | Chr 2, 47672729: 47672729 |
| 886 | MSH2 | NM_000251.2(MSH2): c.1321dupA (p.Thr441Asnfs) | duplication | Pathogenic | rs63750807 | GRCh37 | Chr 2, 47672731: 47672731 |
| 887 | MSH2 | NM_000251.2(MSH2): c.1340_1341insGG (p.Phe447Leufs) | insertion | Pathogenic | rs267607696 | GRCh37 | Chr 2, 47672750: 47672751 |
| 888 | MSH2 | NM_000251.2(MSH2): c.1345A> T (p.Lys449Ter) | SNV | Pathogenic | rs63749920 | GRCh37 | Chr 2, 47672755: 47672755 |
| 889 | MSH2 | NM_000251.2(MSH2): c.1345_1348delAAGT (p.Lys449Phefs) | deletion | Pathogenic | rs267607955 | GRCh37 | Chr 2, 47672755: 47672758 |
| 890 | MSH2 | NM_000251.2(MSH2): c.1352_1353delAG (p.Gln451Argfs) | deletion | Pathogenic | rs63750957 | GRCh37 | Chr 2, 47672762: 47672763 |
| 891 | MSH2 | NM_000251.2(MSH2): c.1354G> T (p.Glu452Ter) | SNV | Pathogenic | rs267607954 | GRCh37 | Chr 2, 47672764: 47672764 |
| 892 | MSH2 | NM_000251.2(MSH2): c.1358T> A (p.Met453Lys) | SNV | Pathogenic | rs63750697 | GRCh37 | Chr 2, 47672768: 47672768 |
| 893 | MSH2 | NM_000251.2(MSH2): c.136_164del29 (p.His46Glyfs) | deletion | Pathogenic | rs63751482 | GRCh37 | Chr 2, 47630466: 47630494 |
| 894 | MSH2 | NM_000251.2(MSH2): c.1373T> G (p.Leu458Ter) | SNV | Pathogenic | rs63750521 | GRCh37 | Chr 2, 47672783: 47672783 |
| 895 | MSH2 | NM_000251.2(MSH2): c.1386+1G> A | SNV | Likely pathogenic | rs267607957 | GRCh37 | Chr 2, 47672797: 47672797 |
| 896 | MSH2 | NM_000251.1(MSH2): c.1387-3976_1662-364del | deletion | Pathogenic | | GRCh37 | Chr 2, 47686194: 47697740 |
| 897 | MSH2 | NM_000251.2(MSH2): c.1387-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47690170: 47710360 |
| 898 | MSH2 | NM_000251.2(MSH2): c.1387-?_1510+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 899 | MSH2 | NM_000251.2(MSH2): c.1387-?_1661+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 900 | MSH2 | NM_000251.2(MSH2): c.1387-?_1661+?dup275 | duplication | Pathogenic | | | Chr na, -1: -1 |
| 901 | MSH2 | NM_000251.2(MSH2): c.1387-?_2458+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 902 | MSH2 | NM_000251.2(MSH2): c.1390delG (p.Glu464Lysfs) | deletion | Pathogenic | rs587779088 | GRCh37 | Chr 2, 47690173: 47690173 |
| 903 | MSH2 | NM_000251.2(MSH2): c.1399G> T (p.Glu467Ter) | SNV | Pathogenic | rs587779089 | GRCh37 | Chr 2, 47690182: 47690182 |
| 904 | MSH2 | NM_000251.2(MSH2): c.1408delG (p.Val470Terfs) | deletion | Pathogenic | rs63750384 | GRCh37 | Chr 2, 47690191: 47690191 |
| 905 | MSH2 | NM_000251.2(MSH2): c.1418C> G (p.Ser473Ter) | SNV | Pathogenic | rs63751403 | GRCh37 | Chr 2, 47690201: 47690201 |
| 906 | MSH2 | NM_000251.2(MSH2): c.142G> T (p.Glu48Ter) | SNV | Pathogenic | rs63750615 | GRCh37 | Chr 2, 47630472: 47630472 |
| 907 | MSH2 | NM_000251.2(MSH2): c.1433_1434dupTC (p.Glu480Valfs) | duplication | Pathogenic | rs587779091 | GRCh37 | Chr 2, 47690216: 47690217 |
| 908 | MSH2 | NM_000251.2(MSH2): c.1444A> T (p.Arg482Ter) | SNV | Pathogenic | rs587779092 | GRCh37 | Chr 2, 47690227: 47690227 |
| 909 | MSH2 | NM_000251.2(MSH2): c.1444delA (p.Arg482Glufs) | deletion | Pathogenic | rs63750068 | GRCh37 | Chr 2, 47690227: 47690227 |
| 910 | MSH2 | NM_000251.2(MSH2): c.1444dupA (p.Arg482Lysfs) | duplication | Pathogenic | rs63750436 | GRCh37 | Chr 2, 47690227: 47690227 |
| 911 | MSH2 | NM_000251.2(MSH2): c.1445_1449delGAGAA (p.Arg482Asnfs) | deletion | Pathogenic | rs267607961 | GRCh37 | Chr 2, 47690228: 47690232 |
| 912 | MSH2 | NM_000251.2(MSH2): c.1447G> T (p.Glu483Ter) | SNV | Pathogenic | rs63749947 | GRCh37 | Chr 2, 47690230: 47690230 |
| 913 | MSH2 | NM_000251.2(MSH2): c.1447_1448delGA (p.Glu483Asnfs) | deletion | Pathogenic | rs63750161 | GRCh37 | Chr 2, 47690230: 47690231 |
| 914 | MSH2 | NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs) | deletion | Pathogenic | rs587776530 | GRCh37 | Chr 2, 47690240: 47690243 |
| 915 | MSH2 | NM_000251.2(MSH2): c.1457delA (p.Asn486Metfs) | deletion | Pathogenic | rs63750986 | GRCh37 | Chr 2, 47690240: 47690240 |
| 916 | MSH2 | NM_000251.2(MSH2): c.145_146delGA (p.Asp49Argfs) | deletion | Pathogenic | rs63750334 | GRCh37 | Chr 2, 47630475: 47630476 |
| 917 | MSH2 | NM_000251.2(MSH2): c.145delG (p.Asp49Thrfs) | deletion | Pathogenic | rs63750644 | GRCh37 | Chr 2, 47630475: 47630475 |
| 918 | MSH2 | NM_000251.2(MSH2): c.1476_1477delGCinsCT (p.Met492_Gln493delinsIleTer) | indel | Pathogenic | rs63750583 | GRCh37 | Chr 2, 47690259: 47690260 |
| 919 | MSH2 | NM_000251.2(MSH2): c.1477C> T (p.Gln493Ter) | SNV | Pathogenic | rs63750936 | GRCh37 | Chr 2, 47690260: 47690260 |
| 920 | MSH2 | NM_000251.2(MSH2): c.1487T> A (p.Leu496Ter) | SNV | Pathogenic | rs587779093 | GRCh37 | Chr 2, 47690270: 47690270 |
| 921 | MSH2 | NM_000251.2(MSH2): c.1494dupT (p.Ala499Cysfs) | duplication | Pathogenic | rs63750362 | GRCh37 | Chr 2, 47690277: 47690277 |
| 922 | MSH2 | NM_000251.2(MSH2): c.1497delA (p.Ala500Profs) | deletion | Pathogenic | rs63749963 | GRCh37 | Chr 2, 47690280: 47690280 |
| 923 | MSH2 | NM_000251.2(MSH2): c.1500dupC (p.Arg501Glnfs) | duplication | Pathogenic | rs587779094 | GRCh37 | Chr 2, 47690283: 47690283 |
| 924 | MSH2 | NM_000251.2(MSH2): c.1511-2A> G | SNV | Pathogenic | rs267607962 | GRCh37 | Chr 2, 47693795: 47693795 |
| 925 | MSH2 | NM_000251.2(MSH2): c.1511-?_2005+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 926 | MSH2 | NM_000251.2(MSH2): c.1528C> T (p.Gln510Ter) | SNV | Pathogenic | rs587779097 | GRCh37 | Chr 2, 47693814: 47693814 |
| 927 | MSH2 | NM_000251.2(MSH2): c.154_155insG (p.Leu52Argfs) | insertion | Pathogenic | rs63750352 | GRCh37 | Chr 2, 47630484: 47630485 |
| 928 | MSH2 | NM_000251.2(MSH2): c.1552C> T (p.Gln518Ter) | SNV | Pathogenic | rs63750780 | GRCh37 | Chr 2, 47693838: 47693838 |
| 929 | MSH2 | NM_000251.2(MSH2): c.1552_1553delCA (p.Gln518Valfs) | deletion | Pathogenic | rs63749930 | GRCh37 | Chr 2, 47693838: 47693839 |
| 930 | MSH2 | NM_000251.2(MSH2): c.1566C> G (p.Tyr522Ter) | SNV | Pathogenic | rs63750224 | GRCh37 | Chr 2, 47693852: 47693852 |
| 931 | MSH2 | NM_000251.2(MSH2): c.1576delA (p.Thr526Profs) | deletion | Pathogenic | rs63750094 | GRCh37 | Chr 2, 47693862: 47693862 |
| 932 | MSH2 | NM_000251.2(MSH2): c.1578delC (p.Cys527Valfs) | deletion | Pathogenic | rs63750738 | GRCh37 | Chr 2, 47693864: 47693864 |
| 933 | MSH2 | NM_000251.2(MSH2): c.1587delA (p.Glu530Lysfs) | deletion | Pathogenic | rs63750845 | GRCh37 | Chr 2, 47693873: 47693873 |
| 934 | MSH2 | NM_000251.2(MSH2): c.1594dupG (p.Val532Glyfs) | duplication | Pathogenic | rs63750104 | GRCh37 | Chr 2, 47693880: 47693880 |
| 935 | MSH2 | NM_000251.2(MSH2): c.1627delG (p.Asp543Ilefs) | deletion | Pathogenic | rs63750675 | GRCh37 | Chr 2, 47693913: 47693913 |
| 936 | MSH2 | NM_000251.2(MSH2): c.1638_1639dupGA (p.Asn547Argfs) | duplication | Pathogenic | rs63750662 | GRCh37 | Chr 2, 47693924: 47693925 |
| 937 | MSH2 | NM_000251.2(MSH2): c.163delC (p.Arg55Glyfs) | deletion | Pathogenic | rs63750337 | GRCh37 | Chr 2, 47630493: 47630493 |
| 938 | MSH2 | NM_000251.2(MSH2): c.1660A> G (p.Ser554Gly) | SNV | Pathogenic | rs63751656 | GRCh37 | Chr 2, 47693946: 47693946 |
| 939 | MSH2 | NM_000251.2(MSH2): c.1660A> T (p.Ser554Cys) | SNV | Pathogenic | rs63751656 | GRCh37 | Chr 2, 47693946: 47693946 |
| 940 | MSH2 | NM_000251.2(MSH2): c.1661+1G> A | SNV | Likely pathogenic | rs267607969 | GRCh37 | Chr 2, 47693948: 47693948 |
| 941 | MSH2 | NM_000251.2(MSH2): c.1661G> C (p.Ser554Thr) | SNV | Pathogenic | rs63750597 | GRCh37 | Chr 2, 47693947: 47693947 |
| 942 | MSH2 | NM_000251.2(MSH2): c.1662-1G> A | SNV | Pathogenic | rs267607970 | GRCh37 | Chr 2, 47698103: 47698103 |
| 943 | MSH2 | NM_000251.1(MSH2): c.1662-374_2458+467del | deletion | Pathogenic | | GRCh37 | Chr 2, 47697730: 47706125 |
| 944 | MSH2 | NM_000251.2(MSH2): c.1662-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47698104: 47710360 |
| 945 | MSH2 | NM_000251.2(MSH2): c.1662-?_1759+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 946 | MSH2 | NM_000251.2(MSH2): c.1662-?_2458+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 947 | MSH2 | NM_000251.2(MSH2): c.1665delA (p.Lys555Asnfs) | deletion | Pathogenic | rs63751120 | GRCh37 | Chr 2, 47698107: 47698107 |
| 948 | MSH2 | NM_000251.2(MSH2): c.1667_1668insA (p.Thr557Aspfs) | insertion | Pathogenic | rs267607694 | GRCh37 | Chr 2, 47698109: 47698110 |
| 949 | MSH2 | NM_000251.2(MSH2): c.1667delT (p.Leu556Terfs) | deletion | Pathogenic | rs587779100 | GRCh37 | Chr 2, 47698109: 47698109 |
| 950 | MSH2 | NM_000251.2(MSH2): c.166G> T (p.Glu56Ter) | SNV | Pathogenic | rs587779102 | GRCh37 | Chr 2, 47630496: 47630496 |
| 951 | MSH2 | NM_000251.2(MSH2): c.166delG (p.Glu56Argfs) | deletion | Pathogenic | rs63750087 | GRCh37 | Chr 2, 47630496: 47630496 |
| 952 | MSH2 | NM_000251.2(MSH2): c.1676delT (p.Leu559Terfs) | deletion | Pathogenic | rs63750633 | GRCh37 | Chr 2, 47698118: 47698118 |
| 953 | MSH2 | NM_000251.2(MSH2): c.1683delA (p.Glu562Serfs) | deletion | Pathogenic | rs63750406 | GRCh37 | Chr 2, 47698125: 47698125 |
| 954 | MSH2 | NM_000251.2(MSH2): c.1687dupT (p.Tyr563Leufs) | duplication | Pathogenic | rs587779103 | GRCh37 | Chr 2, 47698129: 47698129 |
| 955 | MSH2 | NM_000251.2(MSH2): c.1693A> T (p.Lys565Ter) | SNV | Pathogenic | rs587779104 | GRCh37 | Chr 2, 47698135: 47698135 |
| 956 | MSH2 | NM_000251.2(MSH2): c.1696_1697delAA (p.Asn566Terfs) | deletion | Pathogenic | rs63750737 | GRCh37 | Chr 2, 47698138: 47698139 |
| 957 | MSH2 | NM_000251.2(MSH2): c.1699A> T (p.Lys567Ter) | SNV | Pathogenic | rs63751149 | GRCh37 | Chr 2, 47698141: 47698141 |
| 958 | MSH2 | NM_000251.2(MSH2): c.1700_1704delAAACA (p.Lys567Argfs) | deletion | Pathogenic | rs63750474 | GRCh37 | Chr 2, 47698142: 47698146 |
| 959 | MSH2 | NM_000251.2(MSH2): c.1702dupA (p.Thr568Asnfs) | duplication | Pathogenic | rs587779105 | GRCh37 | Chr 2, 47698144: 47698144 |
| 960 | MSH2 | NM_000251.2(MSH2): c.1705_1706dupGA (p.Tyr570Asnfs) | duplication | Pathogenic | rs281864941 | GRCh37 | Chr 2, 47698147: 47698148 |
| 961 | MSH2 | NM_000251.2(MSH2): c.1705_1706insT (p.Glu569Valfs) | insertion | Pathogenic | rs587779106 | GRCh37 | Chr 2, 47698147: 47698148 |
| 962 | MSH2 | NM_000251.2(MSH2): c.1717delG (p.Ala573Profs) | deletion | Pathogenic | rs267607974 | GRCh37 | Chr 2, 47698159: 47698159 |
| 963 | MSH2 | NM_000251.2(MSH2): c.1720C> T (p.Gln574Ter) | SNV | Pathogenic | rs63751298 | GRCh37 | Chr 2, 47698162: 47698162 |
| 964 | MSH2 | NM_000251.2(MSH2): c.1720delC (p.Gln574Argfs) | deletion | Pathogenic | rs63751299 | GRCh37 | Chr 2, 47698162: 47698162 |
| 965 | MSH2 | NM_000251.2(MSH2): c.1738G> T (p.Glu580Ter) | SNV | Pathogenic | rs63751411 | GRCh37 | Chr 2, 47698180: 47698180 |
| 966 | MSH2 | NM_000251.2(MSH2): c.1759+2T> A | SNV | Pathogenic | rs267607976 | GRCh37 | Chr 2, 47698203: 47698203 |
| 967 | MSH2 | NM_000251.1(MSH2): c.1759+305_2006-34del | deletion | Pathogenic | | GRCh37 | Chr 2, 47698506: 47703472 |
| 968 | MSH2 | NM_000251.2(MSH2): c.1759G> C (p.Gly587Arg) | SNV | Pathogenic | rs63751140 | GRCh37 | Chr 2, 47698201: 47698201 |
| 969 | MSH2 | NM_000251.1(MSH2): c.1760-361_2634+838del | deletion | Pathogenic | | GRCh37 | Chr 2, 47701803: 47708848 |
| 970 | MSH2 | NM_000251.2(MSH2): c.1760-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47702164: 47710360 |
| 971 | MSH2 | NM_000251.2(MSH2): c.1760-?_2005+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 972 | MSH2 | NM_000251.2(MSH2): c.1760-?_2210+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 973 | MSH2 | NM_000251.2(MSH2): c.1760delG (p.Gly587Alafs) | deletion | Pathogenic | rs63750103 | GRCh37 | Chr 2, 47702164: 47702164 |
| 974 | MSH2 | NM_000251.2(MSH2): c.1764T> G (p.Tyr588Ter) | SNV | Pathogenic | rs63750844 | GRCh37 | Chr 2, 47702168: 47702168 |
| 975 | MSH2 | NM_000251.2(MSH2): c.1771_1772insA (p.Pro591Hisfs) | insertion | Pathogenic | rs267607977 | GRCh37 | Chr 2, 47702175: 47702176 |
| 976 | MSH2 | NM_000251.2(MSH2): c.1777C> T (p.Gln593Ter) | SNV | Pathogenic | rs63750200 | GRCh37 | Chr 2, 47702181: 47702181 |
| 977 | MSH2 | NM_000251.2(MSH2): c.1779_1782delGACA (p.Gln593Hisfs) | deletion | Pathogenic | rs63750113 | GRCh37 | Chr 2, 47702183: 47702186 |
| 978 | MSH2 | NM_000251.2(MSH2): c.1781_1782insCT (p.Leu595Tyrfs) | insertion | Pathogenic | rs267607691 | GRCh37 | Chr 2, 47702185: 47702186 |
| 979 | MSH2 | NM_000251.2(MSH2): c.1787dupA (p.Asn596Lysfs) | duplication | Pathogenic | rs587779111 | GRCh37 | Chr 2, 47702191: 47702191 |
| 980 | MSH2 | NM_000251.2(MSH2): c.1788_1789delTG (p.Asn596Lysfs) | deletion | Pathogenic | rs63750495 | GRCh37 | Chr 2, 47702192: 47702193 |
| 981 | MSH2 | NM_000251.2(MSH2): c.1809delT (p.Asp603Glufs) | deletion | Pathogenic | rs63751129 | GRCh37 | Chr 2, 47702213: 47702213 |
| 982 | MSH2 | NM_000251.2(MSH2): c.181C> T (p.Gln61Ter) | SNV | Pathogenic | rs63750951 | GRCh37 | Chr 2, 47630511: 47630511 |
| 983 | MSH2 | NM_000251.2(MSH2): c.1827delT (p.His610Thrfs) | deletion | Pathogenic | rs587779112 | GRCh37 | Chr 2, 47702231: 47702231 |
| 984 | MSH2 | NM_000251.2(MSH2): c.1835C> G (p.Ser612Ter) | SNV | Pathogenic | rs63750493 | GRCh37 | Chr 2, 47702239: 47702239 |
| 985 | MSH2 | NM_000251.2(MSH2): c.1853delC (p.Pro618Hisfs) | deletion | Pathogenic | rs267607984 | GRCh37 | Chr 2, 47702257: 47702257 |
| 986 | MSH2 | NM_000251.2(MSH2): c.1857T> G (p.Tyr619Ter) | SNV | Pathogenic | rs63750312 | GRCh37 | Chr 2, 47702261: 47702261 |
| 987 | MSH2 | NM_000251.2(MSH2): c.1858_1859dupGT (p.Arg621Tyrfs) | duplication | Pathogenic | rs63750806 | GRCh37 | Chr 2, 47702262: 47702263 |
| 988 | MSH2 | NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter) | SNV | Pathogenic | rs63750508 | GRCh37 | Chr 2, 47702265: 47702265 |
| 989 | MSH2 | NM_000251.2(MSH2): c.186_187dupGG (p.Val63Glyfs) | duplication | Pathogenic | rs281864942 | GRCh37 | Chr 2, 47630516: 47630517 |
| 990 | MSH2 | NM_000251.2(MSH2): c.187delG (p.Val63Terfs) | deletion | Pathogenic | rs63750160 | GRCh37 | Chr 2, 47630517: 47630517 |
| 991 | MSH2 | NM_000251.2(MSH2): c.187dupG (p.Val63Glyfs) | duplication | Pathogenic | rs281864942 | GRCh37 | Chr 2, 47630517: 47630517 |
| 992 | MSH2 | NM_000251.2(MSH2): c.1885C> T (p.Gln629Ter) | SNV | Pathogenic | rs63750203 | GRCh37 | Chr 2, 47702289: 47702289 |
| 993 | MSH2 | NM_000251.2(MSH2): c.1889_1892delGAAG (p.Gly630Glufs) | deletion | Pathogenic | rs63750960 | GRCh37 | Chr 2, 47702293: 47702296 |
| 994 | MSH2 | NM_000251.2(MSH2): c.1897dupA (p.Ile633Asnfs) | duplication | Pathogenic | rs587779114 | GRCh37 | Chr 2, 47702301: 47702301 |
| 995 | MSH2 | NM_000251.2(MSH2): c.1911delC (p.Arg638Glyfs) | deletion | Pathogenic | rs63750893 | GRCh37 | Chr 2, 47702315: 47702315 |
| 996 | MSH2 | NM_000251.2(MSH2): c.1924_1925delGT (p.Val642Terfs) | deletion | Pathogenic | rs587779117 | GRCh37 | Chr 2, 47702328: 47702329 |
| 997 | MSH2 | NM_000251.2(MSH2): c.1967_1970dupACTT (p.Phe657Leufs) | duplication | Pathogenic | rs587779118 | GRCh37 | Chr 2, 47702371: 47702374 |
| 998 | MSH2 | NM_000251.2(MSH2): c.1968C> G (p.Tyr656Ter) | SNV | Pathogenic | rs63751317 | GRCh37 | Chr 2, 47702372: 47702372 |
| 999 | MSH2 | NM_000251.2(MSH2): c.1980_1981delTA (p.Asp660Glufs) | deletion | Pathogenic | rs587779119 | GRCh37 | Chr 2, 47702384: 47702385 |
| 1000 | MSH2 | NM_000251.2(MSH2): c.1982_1985delAACA (p.Lys661Argfs) | deletion | Pathogenic | rs587779120 | GRCh37 | Chr 2, 47702386: 47702389 |
| 1001 | MSH2 | NM_000251.2(MSH2): c.1984_1985delCA (p.Gln662Aspfs) | deletion | Pathogenic | rs587779121 | GRCh37 | Chr 2, 47702388: 47702389 |
| 1002 | MSH2 | NM_000251.2(MSH2): c.1986_1987delGA (p.Gln662Hisfs) | deletion | Pathogenic | rs587779122 | GRCh37 | Chr 2, 47702390: 47702391 |
| 1003 | MSH2 | NM_000251.2(MSH2): c.1986delG (p.Met663Cysfs) | deletion | Pathogenic | rs63749929 | GRCh37 | Chr 2, 47702390: 47702390 |
| 1004 | MSH2 | NM_000251.2(MSH2): c.1996_1997delAT (p.Ile666Hisfs) | deletion | Pathogenic | rs63751700 | GRCh37 | Chr 2, 47702400: 47702401 |
| 1005 | MSH2 | NM_000251.2(MSH2): c.2005+1G> A | SNV | Likely pathogenic | rs267607986 | GRCh37 | Chr 2, 47702410: 47702410 |
| 1006 | MSH2 | NM_000251.2(MSH2): c.2005+1G> T | SNV | Likely pathogenic | rs267607986 | GRCh37 | Chr 2, 47702410: 47702410 |
| 1007 | MSH2 | NM_000251.2(MSH2): c.2005+2T> C | SNV | Pathogenic | rs267607987 | GRCh37 | Chr 2, 47702411: 47702411 |
| 1008 | MSH2 | NM_000251.2(MSH2): c.2006-?_2210+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1009 | MSH2 | NM_000251.2(MSH2): c.2006G> T (p.Gly669Val) | SNV | Pathogenic | rs63751640 | GRCh37 | Chr 2, 47703506: 47703506 |
| 1010 | MSH2 | NM_000251.2(MSH2): c.2010delC (p.Asn671Ilefs) | deletion | Pathogenic | rs63751123 | GRCh37 | Chr 2, 47703510: 47703510 |
| 1011 | MSH2 | NM_000251.2(MSH2): c.2015delT (p.Met672Argfs) | deletion | Pathogenic | rs63751161 | GRCh37 | Chr 2, 47703515: 47703515 |
| 1012 | MSH2 | NM_000251.2(MSH2): c.2021_2022delGT (p.Gly674Glufs) | deletion | Pathogenic | rs267608000 | GRCh37 | Chr 2, 47703521: 47703522 |
| 1013 | MSH2 | NM_000251.2(MSH2): c.2035_2036delAT (p.Ile679Serfs) | deletion | Pathogenic | rs587779129 | GRCh37 | Chr 2, 47703535: 47703536 |
| 1014 | MSH2 | NM_000251.2(MSH2): c.2046_2047delTG (p.Val684Aspfs) | deletion | Pathogenic | rs587779131 | GRCh37 | Chr 2, 47703546: 47703547 |
| 1015 | MSH2 | NM_000251.2(MSH2): c.2047G> A (p.Gly683Arg) | SNV | Pathogenic | rs267607995 | GRCh37 | Chr 2, 47703547: 47703547 |
| 1016 | MSH2 | NM_000251.2(MSH2): c.2048_2111dup64 (p.Ile704Metfs) | duplication | Pathogenic | | GRCh37 | Chr 2, 47703548: 47703611 |
| 1017 | MSH2 | NM_000251.2(MSH2): c.204delG (p.Pro69Argfs) | deletion | Pathogenic | rs63750199 | GRCh37 | Chr 2, 47630534: 47630534 |
| 1018 | MSH2 | NM_000251.2(MSH2): c.2063T> G (p.Met688Arg) | SNV | Pathogenic | rs63749993 | GRCh37 | Chr 2, 47703563: 47703563 |
| 1019 | MSH2 | NM_000251.2(MSH2): c.2071dupA (p.Ile691Asnfs) | duplication | Pathogenic | rs63749878 | GRCh37 | Chr 2, 47703571: 47703571 |
| 1020 | MSH2 | NM_000251.2(MSH2): c.2074_2081delGGGTGTTT (p.Gly692Cysfs) | deletion | Pathogenic | rs587779135 | GRCh37 | Chr 2, 47703574: 47703581 |
| 1021 | MSH2 | NM_000251.2(MSH2): c.2087C> T (p.Pro696Leu) | SNV | Pathogenic | rs267607994 | GRCh37 | Chr 2, 47703587: 47703587 |
| 1022 | MSH2 | NM_000251.2(MSH2): c.2089T> C (p.Cys697Arg) | SNV | Pathogenic | rs63750961 | GRCh37 | Chr 2, 47703589: 47703589 |
| 1023 | MSH2 | NM_000251.2(MSH2): c.2090G> T (p.Cys697Phe) | SNV | Pathogenic | rs63750398 | GRCh37 | Chr 2, 47703590: 47703590 |
| 1024 | MSH2 | NM_000251.2(MSH2): c.2091T> A (p.Cys697Ter) | SNV | Pathogenic | rs63750872 | GRCh37 | Chr 2, 47703591: 47703591 |
| 1025 | MSH2 | NM_000251.2(MSH2): c.2096C> G (p.Ser699Ter) | SNV | Pathogenic | rs587779136 | GRCh37 | Chr 2, 47703596: 47703596 |
| 1026 | MSH2 | NM_000251.2(MSH2): c.20delA (p.Glu7Glyfs) | deletion | Pathogenic | rs267607915 | GRCh37 | Chr 2, 47630350: 47630350 |
| 1027 | MSH2 | NM_000251.1(MSH2): c.211+1566_1277-3954del | deletion | Pathogenic | | GRCh37 | Chr 2, 47632107: 47668733 |
| 1028 | MSH2 | NM_000251.2(MSH2): c.212-1G> A | SNV | Pathogenic | rs267607914 | GRCh37 | Chr 2, 47635539: 47635539 |
| 1029 | MSH2 | NM_000251.2(MSH2): c.212-478T> G | SNV | Pathogenic | rs587779138 | GRCh37 | Chr 2, 47635062: 47635062 |
| 1030 | MSH2 | NM_000251.2(MSH2): c.212-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1031 | MSH2 | NM_000251.2(MSH2): c.212-?_1276+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1032 | MSH2 | NM_000251.2(MSH2): c.212-?_1386+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1033 | MSH2 | NM_000251.2(MSH2): c.212-?_1510+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1034 | MSH2 | NM_000251.2(MSH2): c.212-?_2458+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1035 | MSH2 | NM_000251.2(MSH2): c.212-?_366+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1036 | MSH2 | NM_000251.2(MSH2): c.212-?_645+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1037 | MSH2 | NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter) | SNV | Pathogenic | rs63750636 | GRCh37 | Chr 2, 47703631: 47703631 |
| 1038 | MSH2 | NM_000251.2(MSH2): c.2135dupT (p.Gly713Argfs) | duplication | Pathogenic | rs63751453 | GRCh37 | Chr 2, 47703635: 47703635 |
| 1039 | MSH2 | NM_000251.2(MSH2): c.2141dupC (p.Gly715Trpfs) | duplication | Pathogenic | rs63750545 | GRCh37 | Chr 2, 47703641: 47703641 |
| 1040 | MSH2 | NM_000251.2(MSH2): c.2152C> T (p.Gln718Ter) | SNV | Pathogenic | rs587779139 | GRCh37 | Chr 2, 47703652: 47703652 |
| 1041 | MSH2 | NM_000251.2(MSH2): c.2160_2163delAGGA (p.Gly721Serfs) | deletion | Pathogenic | rs63750722 | GRCh37 | Chr 2, 47703660: 47703663 |
| 1042 | MSH2 | NM_000251.2(MSH2): c.2167dupT (p.Ser723Phefs) | duplication | Pathogenic | rs587779140 | GRCh37 | Chr 2, 47703667: 47703667 |
| 1043 | MSH2 | NM_000251.2(MSH2): c.2191G> T (p.Glu731Ter) | SNV | Pathogenic | rs63749802 | GRCh37 | Chr 2, 47703691: 47703691 |
| 1044 | MSH2 | NM_000251.2(MSH2): c.21dupG (p.Thr8Aspfs) | duplication | Pathogenic | rs281864943 | GRCh37 | Chr 2, 47630351: 47630351 |
| 1045 | MSH2 | NM_000251.2(MSH2): c.2204delT (p.Ile735Thrfs) | deletion | Pathogenic | rs63750572 | GRCh37 | Chr 2, 47703704: 47703704 |
| 1046 | MSH2 | NM_000251.1(MSH2): c.2210+116_2562del | deletion | Pathogenic | | GRCh37 | Chr 2, 47703826: 47707938 |
| 1047 | MSH2 | NM_000251.2(MSH2): c.2211-?_2458+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1048 | MSH2 | NM_000251.2(MSH2): c.2228C> A (p.Ser743Ter) | SNV | Pathogenic | rs63751155 | GRCh37 | Chr 2, 47705428: 47705428 |
| 1049 | MSH2 | NM_000251.2(MSH2): c.2228C> G (p.Ser743Ter) | SNV | Pathogenic | rs63751155 | GRCh37 | Chr 2, 47705428: 47705428 |
| 1050 | MSH2 | NM_000251.2(MSH2): c.2228_2231delCATT (p.Ser743Terfs) | deletion | Pathogenic | rs63751156 | GRCh37 | Chr 2, 47705428: 47705431 |
| 1051 | MSH2 | NM_000251.2(MSH2): c.2231T> G (p.Leu744Ter) | SNV | Pathogenic | rs63750403 | GRCh37 | Chr 2, 47705431: 47705431 |
| 1052 | MSH2 | NM_000251.2(MSH2): c.2237_2238insA (p.Ile747Hisfs) | insertion | Pathogenic | rs267607690 | GRCh37 | Chr 2, 47705437: 47705438 |
| 1053 | MSH2 | NM_000251.2(MSH2): c.223_224delCT (p.Leu75Alafs) | deletion | Pathogenic | rs63750712 | GRCh37 | Chr 2, 47635551: 47635552 |
| 1054 | MSH2 | NM_000251.2(MSH2): c.2240_2241delTA (p.Ile747Argfs) | deletion | Pathogenic | rs63751036 | GRCh37 | Chr 2, 47705440: 47705441 |
| 1055 | MSH2 | NM_000251.2(MSH2): c.2251G> A (p.Gly751Arg) | SNV | Pathogenic | rs63751119 | GRCh37 | Chr 2, 47705451: 47705451 |
| 1056 | MSH2 | NM_000251.2(MSH2): c.2261delC (p.Thr754Ilefs) | deletion | Pathogenic | rs267608009 | GRCh37 | Chr 2, 47705461: 47705461 |
| 1057 | MSH2 | NM_000251.2(MSH2): c.226C> T (p.Gln76Ter) | SNV | Pathogenic | rs63750042 | GRCh37 | Chr 2, 47635554: 47635554 |
| 1058 | MSH2 | NM_000251.2(MSH2): c.2275G> T (p.Gly759Ter) | SNV | Pathogenic | rs63749854 | GRCh37 | Chr 2, 47705475: 47705475 |
| 1059 | MSH2 | NM_000251.2(MSH2): c.2290delT (p.Trp764Glyfs) | deletion | Pathogenic | rs63749913 | GRCh37 | Chr 2, 47705490: 47705490 |
| 1060 | MSH2 | NM_000251.2(MSH2): c.2291G> A (p.Trp764Ter) | SNV | Pathogenic | rs587779143 | GRCh37 | Chr 2, 47705491: 47705491 |
| 1061 | MSH2 | NM_000251.2(MSH2): c.2292G> A (p.Trp764Ter) | SNV | Pathogenic | rs63751105 | GRCh37 | Chr 2, 47705492: 47705492 |
| 1062 | MSH2 | NM_000251.2(MSH2): c.2294delC (p.Ala765Valfs) | deletion | Pathogenic | rs63750346 | GRCh37 | Chr 2, 47705494: 47705494 |
| 1063 | MSH2 | NM_000251.2(MSH2): c.2295delT (p.Ile766Tyrfs) | deletion | Pathogenic | rs63751143 | GRCh37 | Chr 2, 47705495: 47705495 |
| 1064 | MSH2 | NM_000251.2(MSH2): c.229_230delAG (p.Ser77Cysfs) | deletion | Pathogenic | rs63749848 | GRCh37 | Chr 2, 47635557: 47635558 |
| 1065 | MSH2 | NM_000251.2(MSH2): c.2305delT (p.Tyr769Thrfs) | deletion | Pathogenic | rs63750896 | GRCh37 | Chr 2, 47705505: 47705505 |
| 1066 | MSH2 | NM_000251.2(MSH2): c.2334C> A (p.Cys778Ter) | SNV | Pathogenic | rs63750618 | GRCh37 | Chr 2, 47705534: 47705534 |
| 1067 | MSH2 | NM_000251.2(MSH2): c.2335dupA (p.Met779Asnfs) | duplication | Pathogenic | rs63750149 | GRCh37 | Chr 2, 47705535: 47705535 |
| 1068 | MSH2 | NM_000251.2(MSH2): c.2347delC (p.His783Ilefs) | deletion | Pathogenic | rs63750233 | GRCh37 | Chr 2, 47705547: 47705547 |
| 1069 | MSH2 | NM_000251.2(MSH2): c.2360_2361dupTT (p.Thr788Leufs) | duplication | Pathogenic | rs63750803 | GRCh37 | Chr 2, 47705560: 47705561 |
| 1070 | MSH2 | NM_000251.2(MSH2): c.2361dupT (p.Thr788Tyrfs) | duplication | Pathogenic | rs63750803 | GRCh37 | Chr 2, 47705561: 47705561 |
| 1071 | MSH2 | NM_000251.2(MSH2): c.2362dupA (p.Thr788Asnfs) | duplication | Pathogenic | rs63750463 | GRCh37 | Chr 2, 47705562: 47705562 |
| 1072 | MSH2 | NM_000251.2(MSH2): c.2388delT (p.Val797Leufs) | deletion | Pathogenic | rs63749983 | GRCh37 | Chr 2, 47705588: 47705588 |
| 1073 | MSH2 | NM_000251.2(MSH2): c.2408_2409delCA (p.Thr803Serfs) | deletion | Pathogenic | rs63750060 | GRCh37 | Chr 2, 47705608: 47705609 |
| 1074 | MSH2 | NM_000251.2(MSH2): c.2418dupC (p.Thr807Hisfs) | duplication | Pathogenic | rs587779144 | GRCh37 | Chr 2, 47705618: 47705618 |
| 1075 | MSH2 | NM_000251.2(MSH2): c.2422G> T (p.Glu808Ter) | SNV | Pathogenic | rs34986638 | GRCh37 | Chr 2, 47705622: 47705622 |
| 1076 | MSH2 | NM_000251.2(MSH2): c.2427dupG (p.Thr810Aspfs) | duplication | Pathogenic | rs63751079 | GRCh37 | Chr 2, 47705627: 47705627 |
| 1077 | MSH2 | NM_000251.2(MSH2): c.2432T> G (p.Leu811Ter) | SNV | Pathogenic | rs63751018 | GRCh37 | Chr 2, 47705632: 47705632 |
| 1078 | MSH2 | NM_000251.2(MSH2) | indel | Pathogenic | | GRCh37 | Chr 2, 47635571: 47635601 |
| 1079 | MSH2 | NM_000251.2(MSH2): c.2446C> T (p.Gln816Ter) | SNV | Pathogenic | rs63749917 | GRCh37 | Chr 2, 47705646: 47705646 |
| 1080 | MSH2 | NM_000251.2(MSH2): c.244A> T (p.Lys82Ter) | SNV | Pathogenic | rs587779145 | GRCh37 | Chr 2, 47635572: 47635572 |
| 1081 | MSH2 | NM_000251.2(MSH2): c.2459-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47707835: 47710360 |
| 1082 | MSH2 | NM_000251.2(MSH2): c.2459-?_2634+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1083 | MSH2 | NM_000251.2(MSH2): c.2466_2467delTG (p.Cys822Terfs) | deletion | Pathogenic | rs63751621 | GRCh37 | Chr 2, 47707842: 47707843 |
| 1084 | MSH2 | NM_000251.2(MSH2): c.2470C> T (p.Gln824Ter) | SNV | Pathogenic | rs63750623 | GRCh37 | Chr 2, 47707846: 47707846 |
| 1085 | MSH2 | NM_000251.2(MSH2): c.2485_2498dupCATGTTGCAGAGCT (p.Ala834Metfs) | duplication | Pathogenic | rs587779146 | GRCh37 | Chr 2, 47707861: 47707874 |
| 1086 | MSH2 | NM_000251.2(MSH2): c.2485delC (p.His829Metfs) | deletion | Pathogenic | rs63751117 | GRCh37 | Chr 2, 47707861: 47707861 |
| 1087 | MSH2 | NM_000251.2(MSH2): c.2502_2508delTAATTTC (p.Asn835Leufs) | deletion | Pathogenic | rs63751447 | GRCh37 | Chr 2, 47707878: 47707884 |
| 1088 | MSH2 | NM_000251.2(MSH2): c.2507delT (p.Phe836Serfs) | deletion | Pathogenic | rs63750008 | GRCh37 | Chr 2, 47707883: 47707883 |
| 1089 | MSH2 | NM_000251.2(MSH2): c.2521delA (p.Ile841Terfs) | deletion | Pathogenic | rs587779147 | GRCh37 | Chr 2, 47707897: 47707897 |
| 1090 | MSH2 | NM_000251.2(MSH2): c.2525_2526delAG (p.Glu842Valfs) | deletion | Pathogenic | rs587779148 | GRCh37 | Chr 2, 47707901: 47707902 |
| 1091 | MSH2 | NM_000251.2(MSH2): c.2529_2530delTG (p.Ala844Terfs) | deletion | Pathogenic | rs63749975 | GRCh37 | Chr 2, 47707905: 47707906 |
| 1092 | MSH2 | NM_000251.2(MSH2): c.2536C> T (p.Gln846Ter) | SNV | Pathogenic | rs63750857 | GRCh37 | Chr 2, 47707912: 47707912 |
| 1093 | MSH2 | NM_000251.2(MSH2): c.2545delC (p.Leu849Trpfs) | deletion | Pathogenic | rs587779149 | GRCh37 | Chr 2, 47707921: 47707921 |
| 1094 | MSH2 | NM_000251.2(MSH2): c.255_256delTG (p.Phe85Leufs) | deletion | Pathogenic | rs267607921 | GRCh37 | Chr 2, 47635583: 47635584 |
| 1095 | MSH2 | NM_000251.2(MSH2): c.255dupT (p.Glu86Terfs) | duplication | Pathogenic | rs63751158 | GRCh37 | Chr 2, 47635583: 47635583 |
| 1096 | MSH2 | NM_000251.2(MSH2): c.2575G> T (p.Glu859Ter) | SNV | Pathogenic | rs63749830 | GRCh37 | Chr 2, 47707951: 47707951 |
| 1097 | MSH2 | NM_000251.2(MSH2): c.2579C> A (p.Ser860Ter) | SNV | Pathogenic | rs63750849 | GRCh37 | Chr 2, 47707955: 47707955 |
| 1098 | MSH2 | NM_000251.2(MSH2): c.2581C> T (p.Gln861Ter) | SNV | Pathogenic | rs63750291 | GRCh37 | Chr 2, 47707957: 47707957 |
| 1099 | MSH2 | NM_000251.2(MSH2): c.2593_2597delATCAT (p.Ile865Glyfs) | deletion | Pathogenic | rs587779151 | GRCh37 | Chr 2, 47707969: 47707973 |
| 1100 | MSH2 | NM_000251.2(MSH2): c.2620_2621ins115 (p.?) | insertion | Pathogenic | | GRCh37 | Chr 2, 47707996: 47707997 |
| 1101 | MSH2 | NM_000251.2(MSH2): c.2622T> A (p.Tyr874Ter) | SNV | Pathogenic | rs587779152 | GRCh37 | Chr 2, 47707998: 47707998 |
| 1102 | MSH2 | NM_000251.2(MSH2): c.2633_2634delAG (p.Glu878Alafs) | deletion | Pathogenic | rs63751618 | GRCh37 | Chr 2, 47708009: 47708010 |
| 1103 | MSH2 | NM_000251.2(MSH2): c.2634+5G> C | SNV | Pathogenic | rs267608017 | GRCh37 | Chr 2, 47708015: 47708015 |
| 1104 | MSH2 | NM_000251.2(MSH2): c.2634G> A (p.Glu878=) | SNV | Pathogenic | rs63751624 | GRCh37 | Chr 2, 47708010: 47708010 |
| 1105 | MSH2 | NM_000251.2(MSH2): c.2635-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47709918: 47710360 |
| 1106 | MSH2 | NM_000251.2(MSH2): c.2635C> T (p.Gln879Ter) | SNV | Pathogenic | rs63751469 | GRCh37 | Chr 2, 47709918: 47709918 |
| 1107 | MSH2 | NM_000251.2(MSH2): c.263_264delTT (p.Phe88Cysfs) | deletion | Pathogenic | rs267607920 | GRCh37 | Chr 2, 47635591: 47635592 |
| 1108 | MSH2 | NM_000251.2(MSH2): c.2647delA (p.Ile883Leufs) | deletion | Pathogenic | rs63750084 | GRCh37 | Chr 2, 47709930: 47709930 |
| 1109 | MSH2 | NM_000251.2(MSH2): c.2647dupA (p.Ile883Asnfs) | duplication | Pathogenic | rs63750145 | GRCh37 | Chr 2, 47709930: 47709930 |
| 1110 | MSH2 | NM_000251.2(MSH2): c.2653C> T (p.Gln885Ter) | SNV | Pathogenic | rs63750808 | GRCh37 | Chr 2, 47709936: 47709936 |
| 1111 | MSH2 | NM_000251.2(MSH2): c.2662delC (p.Leu888Cysfs) | deletion | Pathogenic | rs63751007 | GRCh37 | Chr 2, 47709945: 47709945 |
| 1112 | MSH2 | NM_000251.2(MSH2): c.2740G> T (p.Glu914Ter) | SNV | Pathogenic | rs267608024 | GRCh37 | Chr 2, 47710023: 47710023 |
| 1113 | MSH2 | NM_000251.2(MSH2): c.2785C> T (p.Arg929Ter) | SNV | Pathogenic | rs551060742 | GRCh37 | Chr 2, 47710068: 47710068 |
| 1114 | MSH2 | NM_000251.2(MSH2): c.278_279delTT (p.Leu93Profs) | deletion | Pathogenic | rs63749872 | GRCh37 | Chr 2, 47635606: 47635607 |
| 1115 | MSH2 | NM_000251.2(MSH2): c.289C> T (p.Gln97Ter) | SNV | Pathogenic | rs63750970 | GRCh37 | Chr 2, 47635617: 47635617 |
| 1116 | MSH2 | NM_000251.2(MSH2): c.28C> T (p.Gln10Ter) | SNV | Pathogenic | rs63751099 | GRCh37 | Chr 2, 47630358: 47630358 |
| 1117 | MSH2 | NM_000251.2(MSH2): c.29dupA (p.Leu11Valfs) | duplication | Pathogenic | rs63750589 | GRCh37 | Chr 2, 47630359: 47630359 |
| 1118 | MSH2 | NM_000251.2(MSH2): c.301G> T (p.Glu101Ter) | SNV | Pathogenic | rs63750318 | GRCh37 | Chr 2, 47635629: 47635629 |
| 1119 | MSH2 | NM_000251.2(MSH2): c.344delA (p.Asn115Metfs) | deletion | Pathogenic | rs63751195 | GRCh37 | Chr 2, 47635672: 47635672 |
| 1120 | MSH2 | NM_000251.2(MSH2): c.347_350delATTG (p.Asp116Glyfs) | deletion | Pathogenic | rs63750501 | GRCh37 | Chr 2, 47635675: 47635678 |
| 1121 | MSH2 | NM_000251.2(MSH2): c.34dupG (p.Glu12Glyfs) | duplication | Pathogenic | rs63750614 | GRCh37 | Chr 2, 47630364: 47630364 |
| 1122 | MSH2 | NM_000251.2(MSH2): c.352dupT (p.Tyr118Leufs) | duplication | Pathogenic | rs587779159 | GRCh37 | Chr 2, 47635680: 47635680 |
| 1123 | MSH2 | NM_000251.2(MSH2): c.363T> G (p.Tyr121Ter) | SNV | Pathogenic | rs63750458 | GRCh37 | Chr 2, 47635691: 47635691 |
| 1124 | MSH2 | NM_000251.1(MSH2): c.367-371_646-513del | deletion | Pathogenic | | GRCh37 | Chr 2, 47636862: 47639040 |
| 1125 | MSH2 | NM_000251.1(MSH2): c.367-452_646-722del | deletion | Pathogenic | | GRCh37 | Chr 2, 47636781: 47638831 |
| 1126 | MSH2 | NM_000251.2(MSH2): c.367-480_645+644del | deletion | Pathogenic | | GRCh37 | Chr 2, 47636753: 47638155 |
| 1127 | MSH2 | NM_000251.1(MSH2): c.367-681_646-956del | deletion | Pathogenic | | GRCh37 | Chr 2, 47636552: 47638597 |
| 1128 | MSH2 | NM_000251.2(MSH2): c.367-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1129 | MSH2 | NM_000251.2(MSH2): c.367-?_1276+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1130 | MSH2 | NM_000251.2(MSH2): c.367-?_1386+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1131 | MSH2 | NM_000251.2(MSH2): c.367-?_1759+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1132 | MSH2 | NM_000251.2(MSH2): c.367-?_645+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1133 | MSH2 | NM_000251.2(MSH2): c.367-?_942+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1134 | MSH2 | NM_000251.2(MSH2): c.368delC (p.Ala123Valfs) | deletion | Pathogenic | rs63750210 | GRCh37 | Chr 2, 47637234: 47637234 |
| 1135 | MSH2 | NM_000251.2(MSH2): c.380_381delAT (p.Asn127Thrfs) | deletion | Pathogenic | rs63751227 | GRCh37 | Chr 2, 47637246: 47637247 |
| 1136 | MSH2 | NM_000251.2(MSH2): c.387_388delTC (p.Gln130Valfs) | deletion | Pathogenic | rs63750924 | GRCh37 | Chr 2, 47637253: 47637254 |
| 1137 | MSH2 | NM_000251.2(MSH2): c.388_389delCA (p.Gln130Valfs) | deletion | Pathogenic | rs63750704 | GRCh37 | Chr 2, 47637254: 47637255 |
| 1138 | MSH2 | NM_000251.2(MSH2): c.399delC (p.Asp133Glufs) | deletion | Pathogenic | rs63751290 | GRCh37 | Chr 2, 47637265: 47637265 |
| 1139 | MSH2 | NM_000251.2(MSH2): c.408delT (p.Phe136Leufs) | deletion | Pathogenic | rs63750408 | GRCh37 | Chr 2, 47637274: 47637274 |
| 1140 | MSH2 | NM_000251.2(MSH2): c.416delA (p.Asn139Metfs) | deletion | Pathogenic | rs63750401 | GRCh37 | Chr 2, 47637282: 47637282 |
| 1141 | MSH2 | NM_000251.2(MSH2): c.425C> G (p.Ser142Ter) | SNV | Pathogenic | rs63750910 | GRCh37 | Chr 2, 47637291: 47637291 |
| 1142 | MSH2 | NM_000251.2(MSH2): c.472C> T (p.Gln158Ter) | SNV | Pathogenic | rs63751226 | GRCh37 | Chr 2, 47637338: 47637338 |
| 1143 | MSH2 | NM_000251.2(MSH2): c.478C> T (p.Gln160Ter) | SNV | Pathogenic | rs63751426 | GRCh37 | Chr 2, 47637344: 47637344 |
| 1144 | MSH2 | NM_000251.2(MSH2): c.484G> A (p.Gly162Arg) | SNV | Pathogenic | rs63750624 | GRCh37 | Chr 2, 47637350: 47637350 |
| 1145 | MSH2 | NM_000251.2(MSH2): c.488T> A (p.Val163Asp) | SNV | Pathogenic | rs63750214 | GRCh37 | Chr 2, 47637354: 47637354 |
| 1146 | MSH2 | NM_000251.2(MSH2): c.490G> A (p.Gly164Arg) | SNV | Pathogenic | rs63750582 | GRCh37 | Chr 2, 47637356: 47637356 |
| 1147 | MSH2 | NM_000251.2(MSH2): c.506_509delTACA (p.Ile169Argfs) | deletion | Pathogenic | rs63751013 | GRCh37 | Chr 2, 47637372: 47637375 |
| 1148 | MSH2 | NM_000251.2(MSH2): c.508C> T (p.Gln170Ter) | SNV | Pathogenic | rs63750843 | GRCh37 | Chr 2, 47637374: 47637374 |
| 1149 | MSH2 | NM_000251.2(MSH2): c.511_583dup73 (p.Gly195Glufs) | duplication | Pathogenic | | GRCh37 | Chr 2, 47637377: 47637449 |
| 1150 | MSH2 | NM_000251.2(MSH2): c.513delG (p.Lys172Asnfs) | deletion | Pathogenic | rs63750933 | GRCh37 | Chr 2, 47637379: 47637379 |
| 1151 | MSH2 | NM_000251.2(MSH2): c.518delT (p.Leu173Glnfs) | deletion | Pathogenic | rs63750069 | GRCh37 | Chr 2, 47637384: 47637384 |
| 1152 | MSH2 | NM_000251.2(MSH2): c.528_529delTG (p.Cys176Terfs) | deletion | Pathogenic | rs587779164 | GRCh37 | Chr 2, 47637394: 47637395 |
| 1153 | MSH2 | NM_000251.2(MSH2): c.529G> T (p.Glu177Ter) | SNV | Pathogenic | rs63750382 | GRCh37 | Chr 2, 47637395: 47637395 |
| 1154 | MSH2 | NM_000251.2(MSH2): c.530_531delAA (p.Glu177Valfs) | deletion | Pathogenic | rs63750551 | GRCh37 | Chr 2, 47637396: 47637397 |
| 1155 | MSH2 | NM_000251.2(MSH2): c.547C> T (p.Gln183Ter) | SNV | Pathogenic | rs63750037 | GRCh37 | Chr 2, 47637413: 47637413 |
| 1156 | MSH2 | NM_000251.2(MSH2): c.551delT (p.Phe184Serfs) | deletion | Pathogenic | rs267607928 | GRCh37 | Chr 2, 47637417: 47637417 |
| 1157 | MSH2 | NM_000251.2(MSH2): c.560T> C (p.Leu187Pro) | SNV | Pathogenic | rs63751444 | GRCh37 | Chr 2, 47637426: 47637426 |
| 1158 | MSH2 | NM_000251.2(MSH2): c.560T> G (p.Leu187Arg) | SNV | Pathogenic | rs63751444 | GRCh37 | Chr 2, 47637426: 47637426 |
| 1159 | MSH2 | NM_000251.2(MSH2): c.571_573delCTC (p.Leu191del) | deletion | Pathogenic | rs587779165 | GRCh37 | Chr 2, 47637437: 47637439 |
| 1160 | MSH2 | NM_000251.2(MSH2): c.577C> T (p.Gln193Ter) | SNV | Pathogenic | rs63751326 | GRCh37 | Chr 2, 47637443: 47637443 |
| 1161 | MSH2 | NM_000251.2(MSH2): c.587delC (p.Pro196Glnfs) | deletion | Pathogenic | rs63750682 | GRCh37 | Chr 2, 47637453: 47637453 |
| 1162 | MSH2 | NM_000251.2(MSH2): c.592dupG (p.Glu198Glyfs) | duplication | Pathogenic | rs63750786 | GRCh37 | Chr 2, 47637458: 47637458 |
| 1163 | MSH2 | NM_000251.2(MSH2): c.595T> C (p.Cys199Arg) | SNV | Pathogenic | rs63751110 | GRCh37 | Chr 2, 47637461: 47637461 |
| 1164 | MSH2 | NM_000251.2(MSH2): c.610G> T (p.Gly204Ter) | SNV | Pathogenic | rs63750574 | GRCh37 | Chr 2, 47637476: 47637476 |
| 1165 | MSH2 | NM_000251.2(MSH2): c.613G> T (p.Glu205Ter) | SNV | Pathogenic | rs63749984 | GRCh37 | Chr 2, 47637479: 47637479 |
| 1166 | MSH2 | NM_000251.2(MSH2): c.616dupA (p.Thr206Asnfs) | duplication | Pathogenic | rs63750995 | GRCh37 | Chr 2, 47637482: 47637482 |
| 1167 | MSH2 | NM_000251.2(MSH2): c.638_639delTG (p.Leu213Glnfs) | deletion | Pathogenic | rs63751622 | GRCh37 | Chr 2, 47637504: 47637505 |
| 1168 | MSH2 | NM_000251.2(MSH2): c.642_645delACAG (p.Gln215Terfs) | deletion | Pathogenic | rs63751695 | GRCh37 | Chr 2, 47637508: 47637511 |
| 1169 | MSH2 | NM_000251.2(MSH2): c.643C> T (p.Gln215Ter) | SNV | Pathogenic | rs63751274 | GRCh37 | Chr 2, 47637509: 47637509 |
| 1170 | MSH2 | NM_000251.2(MSH2): c.645+1G> A | SNV | Pathogenic | rs267607689 | GRCh37 | Chr 2, 47637512: 47637512 |
| 1171 | MSH2 | NM_000251.2(MSH2): c.645+1G> T | SNV | Likely pathogenic | rs267607689 | GRCh37 | Chr 2, 47637512: 47637512 |
| 1172 | MSH2 | NM_000251.1(MSH2): c.645+539_1077-3451del | deletion | Pathogenic | | GRCh37 | Chr 2, 47638050: 47653430 |
| 1173 | MSH2 | NM_000251.1(MSH2): c.645+791_1076+4894del | deletion | Pathogenic | | GRCh37 | Chr 2, 47638302: 47648462 |
| 1174 | MSH2 | NM_000251.1(MSH2): c.645+967_1076+5075del | deletion | Pathogenic | | GRCh37 | Chr 2, 47638478: 47648643 |
| 1175 | MSH2 | NM_000251.2(MSH2): c.646-3T> G | SNV | Pathogenic | rs267607930 | GRCh37 | Chr 2, 47639550: 47639550 |
| 1176 | MSH2 | NM_000251.2(MSH2): c.646-?_*(272_?)del | deletion | Pathogenic | | GRCh37 | Chr 2, 47639553: 47710360 |
| 1177 | MSH2 | NM_000251.2(MSH2): c.646-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1178 | MSH2 | NM_000251.2(MSH2): c.646-?_1276+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1179 | MSH2 | NM_000251.2(MSH2): c.646-?_1386+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1180 | MSH2 | NM_000251.2(MSH2): c.646-?_792+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1181 | MSH2 | NM_000251.2(MSH2): c.646-?_942+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1182 | MSH2 | NM_000251.2(MSH2): c.650_654delTTCAA (p.Ile217Lysfs) | deletion | Pathogenic | rs63751602 | GRCh37 | Chr 2, 47639557: 47639561 |
| 1183 | MSH2 | NM_000251.2(MSH2): c.652C> T (p.Gln218Ter) | SNV | Pathogenic | rs587779170 | GRCh37 | Chr 2, 47639559: 47639559 |
| 1184 | MSH2 | NM_000251.2(MSH2): c.675_679delAGAAAinsTAAT (p.Glu226Asnfs) | indel | Pathogenic | rs587779172 | GRCh37 | Chr 2, 47639582: 47639586 |
| 1185 | MSH2 | NM_000251.2(MSH2): c.685A> T (p.Lys229Ter) | SNV | Pathogenic | rs587779173 | GRCh37 | Chr 2, 47639592: 47639592 |
| 1186 | MSH2 | NM_000251.2(MSH2): c.687delA (p.Ala230Leufs) | deletion | Pathogenic | rs63749897 | GRCh37 | Chr 2, 47639594: 47639594 |
| 1187 | MSH2 | NM_000251.2(MSH2): c.687dupA (p.Ala230Serfs) | duplication | Pathogenic | rs63750364 | GRCh37 | Chr 2, 47639594: 47639594 |
| 1188 | MSH2 | NM_000251.2(MSH2): c.691delG (p.Asp231Thrfs) | deletion | Pathogenic | rs587779174 | GRCh37 | Chr 2, 47639598: 47639598 |
| 1189 | MSH2 | NM_000251.2(MSH2): c.696_697delTT (p.Ser233Hisfs) | deletion | Pathogenic | rs63750426 | GRCh37 | Chr 2, 47639603: 47639604 |
| 1190 | MSH2 | NM_000251.2(MSH2): c.704_705delAA (p.Lys235Argfs) | deletion | Pathogenic | rs281864944 | GRCh37 | Chr 2, 47639611: 47639612 |
| 1191 | MSH2 | NM_000251.2(MSH2): c.705delA (p.Asp236Thrfs) | deletion | Pathogenic | rs281864945 | GRCh37 | Chr 2, 47639612: 47639612 |
| 1192 | MSH2 | NM_000251.2(MSH2): c.711_714delTTAT (p.Tyr238Argfs) | deletion | Pathogenic | rs63751288 | GRCh37 | Chr 2, 47639618: 47639621 |
| 1193 | MSH2 | NM_000251.2(MSH2): c.715C> T (p.Gln239Ter) | SNV | Pathogenic | rs63750488 | GRCh37 | Chr 2, 47639622: 47639622 |
| 1194 | MSH2 | NM_000251.2(MSH2): c.717_721delGGACCinsTTA (p.Gln239Hisfs) | indel | Pathogenic | rs63750690 | GRCh37 | Chr 2, 47639624: 47639628 |
| 1195 | MSH2 | NM_000251.2(MSH2): c.71dupA (p.Met26Hisfs) | duplication | Pathogenic | rs587779175 | GRCh37 | Chr 2, 47630401: 47630401 |
| 1196 | MSH2 | NM_000251.2(MSH2): c.725dupA (p.Asn242Lysfs) | duplication | Pathogenic | rs587779176 | GRCh37 | Chr 2, 47639632: 47639632 |
| 1197 | MSH2 | NM_000251.2(MSH2): c.735dupG (p.Lys246Glufs) | duplication | Pathogenic | rs63750107 | GRCh37 | Chr 2, 47639642: 47639642 |
| 1198 | MSH2 | NM_000251.2(MSH2): c.736A> T (p.Lys246Ter) | SNV | Pathogenic | rs63750881 | GRCh37 | Chr 2, 47639643: 47639643 |
| 1199 | MSH2 | NM_000251.2(MSH2): c.73_74insC (p.Gly25Alafs) | insertion | Pathogenic | rs587779177 | GRCh37 | Chr 2, 47630403: 47630404 |
| 1200 | MSH2 | NM_000251.2(MSH2): c.746delA (p.Lys249Argfs) | deletion | Pathogenic | rs63749832 | GRCh37 | Chr 2, 47639653: 47639653 |
| 1201 | MSH2 | NM_000251.2(MSH2): c.754C> T (p.Gln252Ter) | SNV | Pathogenic | rs63750347 | GRCh37 | Chr 2, 47639661: 47639661 |
| 1202 | MSH2 | NM_000251.2(MSH2): c.759_762delGAAT (p.Met253Ilefs) | deletion | Pathogenic | rs267607931 | GRCh37 | Chr 2, 47639666: 47639669 |
| 1203 | MSH2 | NM_000251.2(MSH2): c.759delG (p.Met253Ilefs) | deletion | Pathogenic | rs63751160 | GRCh37 | Chr 2, 47639666: 47639666 |
| 1204 | MSH2 | NM_000251.2(MSH2): c.761delA (p.Asn254Ilefs) | deletion | Pathogenic | rs587779179 | GRCh37 | Chr 2, 47639668: 47639668 |
| 1205 | MSH2 | NM_000251.2(MSH2): c.763_766delAGTGinsTT (p.Ser255Phefs) | indel | Pathogenic | rs63750329 | GRCh37 | Chr 2, 47639670: 47639673 |
| 1206 | MSH2 | NM_000251.2(MSH2): c.767_768dupCT (p.Val257Leufs) | duplication | Pathogenic | rs587779181 | GRCh37 | Chr 2, 47639674: 47639675 |
| 1207 | MSH2 | NM_000251.2(MSH2): c.788_789delAT (p.Asn263Thrfs) | deletion | Pathogenic | rs63751614 | GRCh37 | Chr 2, 47639695: 47639696 |
| 1208 | MSH2 | NM_000251.2(MSH2): c.792+1G> A | SNV | Pathogenic | rs267607934 | GRCh37 | Chr 2, 47639700: 47639700 |
| 1209 | MSH2 | NM_000251.1(MSH2): c.792+8_943-450del | deletion | Pathogenic | | GRCh37 | Chr 2, 47639707: 47642985 |
| 1210 | MSH2 | NM_000251.2(MSH2): c.793-6_942+450del | deletion | Pathogenic | | GRCh37 | Chr 2, 47641402: 47642007 |
| 1211 | MSH2 | NM_000251.2(MSH2): c.793-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1212 | MSH2 | NM_000251.2(MSH2): c.793-?_1276+?del484 | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1213 | MSH2 | NM_000251.2(MSH2): c.793-?_1386+?deldel594 | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1214 | MSH2 | NM_000251.2(MSH2): c.793-?_942+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1215 | MSH2 | NM_000251.2(MSH2): c.795delT (p.Ala266Glnfs) | deletion | Pathogenic | rs63749902 | GRCh37 | Chr 2, 47641410: 47641410 |
| 1216 | MSH2 | NM_000251.2(MSH2): c.810_811delGT (p.Ser271Cysfs) | deletion | Pathogenic | rs63751133 | GRCh37 | Chr 2, 47641425: 47641426 |
| 1217 | MSH2 | NM_000251.2(MSH2): c.811_814delTCTG (p.Ser271Argfs) | deletion | Pathogenic | rs587779185 | GRCh37 | Chr 2, 47641426: 47641429 |
| 1218 | MSH2 | NM_000251.2(MSH2): c.82G> T (p.Glu28Ter) | SNV | Pathogenic | rs63751246 | GRCh37 | Chr 2, 47630412: 47630412 |
| 1219 | MSH2 | NM_000251.2(MSH2): c.82delG (p.Glu28Argfs) | deletion | Pathogenic | rs587779188 | GRCh37 | Chr 2, 47630412: 47630412 |
| 1220 | MSH2 | NM_000251.2(MSH2): c.836delT (p.Leu279Profs) | deletion | Pathogenic | rs63751159 | GRCh37 | Chr 2, 47641451: 47641451 |
| 1221 | MSH2 | NM_000251.2(MSH2): c.839dupT (p.Leu280Phefs) | duplication | Pathogenic | rs63750091 | GRCh37 | Chr 2, 47641454: 47641454 |
| 1222 | MSH2 | NM_000251.2(MSH2): c.842C> A (p.Ser281Ter) | SNV | Pathogenic | rs63749991 | GRCh37 | Chr 2, 47641457: 47641457 |
| 1223 | MSH2 | NM_000251.2(MSH2): c.854delA (p.Asn285Thrfs) | deletion | Pathogenic | rs63750701 | GRCh37 | Chr 2, 47641469: 47641469 |
| 1224 | MSH2 | NM_000251.2(MSH2): c.859G> T (p.Gly287Ter) | SNV | Pathogenic | rs63750276 | GRCh37 | Chr 2, 47641474: 47641474 |
| 1225 | MSH2 | NM_000251.2(MSH2): c.862C> T (p.Gln288Ter) | SNV | Pathogenic | rs63750097 | GRCh37 | Chr 2, 47641477: 47641477 |
| 1226 | MSH2 | NM_000251.2(MSH2): c.863delA (p.Gln288Argfs) | deletion | Pathogenic | rs587779189 | GRCh37 | Chr 2, 47641478: 47641478 |
| 1227 | MSH2 | NM_000251.2(MSH2): c.868G> T (p.Glu290Ter) | SNV | Pathogenic | rs587779190 | GRCh37 | Chr 2, 47641483: 47641483 |
| 1228 | MSH2 | NM_000251.2(MSH2): c.873_876delGACT (p.Thr292Leufs) | deletion | Pathogenic | rs587779191 | GRCh37 | Chr 2, 47641488: 47641491 |
| 1229 | MSH2 | NM_000251.2(MSH2): c.881_882delTT (p.Phe294Terfs) | deletion | Pathogenic | rs63751115 | GRCh37 | Chr 2, 47641496: 47641497 |
| 1230 | MSH2 | NM_000251.2(MSH2): c.888delC (p.Phe296Leufs) | deletion | Pathogenic | rs587779192 | GRCh37 | Chr 2, 47641503: 47641503 |
| 1231 | MSH2 | NM_000251.2(MSH2): c.892C> T (p.Gln298Ter) | SNV | Pathogenic | rs63750934 | GRCh37 | Chr 2, 47641507: 47641507 |
| 1232 | MSH2 | NM_000251.2(MSH2): c.898_899dupAT (p.Met300Ilefs) | duplication | Pathogenic | rs63750885 | GRCh37 | Chr 2, 47641513: 47641514 |
| 1233 | MSH2 | NM_000251.2(MSH2): c.901A> T (p.Lys301Ter) | SNV | Pathogenic | rs63749915 | GRCh37 | Chr 2, 47641516: 47641516 |
| 1234 | MSH2 | NM_000251.2(MSH2): c.905T> A (p.Leu302Ter) | SNV | Pathogenic | rs63749914 | GRCh37 | Chr 2, 47641520: 47641520 |
| 1235 | MSH2 | NM_000251.2(MSH2): c.915_922dupAGCAGTCA (p.Arg308Lysfs) | duplication | Pathogenic | rs63750046 | GRCh37 | Chr 2, 47641530: 47641537 |
| 1236 | MSH2 | NM_000251.2(MSH2): c.929T> C (p.Leu310Pro) | SNV | Pathogenic | rs63750640 | GRCh37 | Chr 2, 47641544: 47641544 |
| 1237 | MSH2 | NM_000251.2(MSH2): c.942G> A (p.Gln314=) | SNV | Pathogenic | rs587779197 | GRCh37 | Chr 2, 47641557: 47641557 |
| 1238 | MSH2 | NM_000251.2(MSH2): c.943-1G> C | SNV | Likely pathogenic | rs12476364 | GRCh37 | Chr 2, 47643434: 47643434 |
| 1239 | MSH2 | NM_000251.1(MSH2): c.943-926_1077-1449del | deletion | Pathogenic | | GRCh37 | Chr 2, 47642509: 47655432 |
| 1240 | MSH2 | NM_000251.2(MSH2): c.943-?_1076+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1241 | MSH2 | NM_000251.2(MSH2): c.94_103delACCACAGTGC (p.Thr32Alafs) | deletion | Pathogenic | rs63750728 | GRCh37 | Chr 2, 47630424: 47630433 |
| 1242 | MSH2 | NM_000251.2(MSH2): c.958dupA (p.Thr320Asnfs) | duplication | Pathogenic | rs63749852 | GRCh37 | Chr 2, 47643450: 47643450 |
| 1243 | MSH2 | NM_000251.2(MSH2): c.970C> T (p.Gln324Ter) | SNV | Pathogenic | rs63750502 | GRCh37 | Chr 2, 47643462: 47643462 |
| 1244 | MSH2 | NM_000251.2(MSH2): c.970_971delCA (p.Gln324Valfs) | deletion | Pathogenic | rs63751044 | GRCh37 | Chr 2, 47643462: 47643463 |
| 1245 | MSH2 | NM_000251.2(MSH2): c.970_971ins4 | insertion | Pathogenic | rs587779199 | GRCh37 | Chr 2, 47643462: 47643463 |
| 1246 | MSH2 | NM_000251.1(MSH2): c.972_973insNM_002133.2: c.737-1292_737-1109 | insertion | Pathogenic | | | Chr na, -1: -1 |
| 1247 | MSH2 | NM_000251.2(MSH2): c.973dupT (p.Ser325Phefs) | duplication | Pathogenic | rs63749945 | GRCh37 | Chr 2, 47643465: 47643465 |
| 1248 | PMS2 | NM_000535.5(PMS2): c.(?_-87)_(*160_?)del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1249 | PMS2 | NM_000535.6(PMS2): c.(?_-87)_1144+?del | deletion | Pathogenic | | GRCh38 | Chr 7, 5989800: 6009106 |
| 1250 | PMS2 | NM_000535.6(PMS2): c.(?_-87)_23+?del | deletion | Pathogenic | | GRCh37 | Chr 7, 6048628: 6048737 |
| 1251 | PMS2 | NM_000535.6(PMS2): c.1076dupT (p.Leu359Phefs) | duplication | Pathogenic | rs267608156 | GRCh37 | Chr 7, 6029499: 6029499 |
| 1252 | PMS2 | NM_000535.6(PMS2): c.1112_1113delATinsTTTA (p.Asn371Ilefs) | indel | Pathogenic | rs587779326 | GRCh37 | Chr 7, 6029462: 6029463 |
| 1253 | PMS2 | NM_000535.5(PMS2): c.1145-1350_*20545del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1254 | PMS2 | NM_000535.6(PMS2): c.1145-?_2174+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1255 | PMS2 | NM_000535.6(PMS2): c.1145-?_2445+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1256 | PMS2 | NM_000535.6(PMS2): c.1169_1170ins20 (p.?) | insertion | Pathogenic | rs587779327 | GRCh37 | Chr 7, 6027226: 6027227 |
| 1257 | PMS2 | NM_000535.6(PMS2): c.1261C> T (p.Arg421Ter) | SNV | Pathogenic | rs587778617 | GRCh37 | Chr 7, 6027135: 6027135 |
| 1258 | PMS2 | NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs) | duplication | Pathogenic | rs63750106 | GRCh37 | Chr 7, 6027090: 6027090 |
| 1259 | PMS2 | NM_000535.5(PMS2): c.164-518_803+252delinsCG | indel | Pathogenic | | GRCh38 | Chr 7, 5997074: 6004576 |
| 1260 | PMS2 | NM_000535.6(PMS2): c.1730dupA (p.Arg578Alafs) | duplication | Pathogenic | rs587779330 | GRCh37 | Chr 7, 6026666: 6026666 |
| 1261 | PMS2 | NM_000535.6(PMS2): c.1738A> T (p.Lys580Ter) | SNV | Pathogenic | rs267608169 | GRCh37 | Chr 7, 6026658: 6026658 |
| 1262 | PMS2 | NM_000535.6(PMS2): c.1768delA (p.Ile590Phefs) | deletion | Pathogenic | rs63750477 | GRCh37 | Chr 7, 6026628: 6026628 |
| 1263 | PMS2 | NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs) | deletion | Pathogenic | rs63750793 | GRCh37 | Chr 7, 6043671: 6043671 |
| 1264 | PMS2 | NM_000535.6(PMS2): c.1831dupA (p.Ile611Asnfs) | duplication | Pathogenic | rs63750250 | GRCh37 | Chr 7, 6026565: 6026565 |
| 1265 | PMS2 | NM_000535.6(PMS2): c.1840A> T (p.Lys614Ter) | SNV | Pathogenic | rs63750490 | GRCh37 | Chr 7, 6026556: 6026556 |
| 1266 | PMS2 | NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter) | SNV | Pathogenic | rs63751422 | GRCh37 | Chr 7, 6026469: 6026469 |
| 1267 | PMS2 | NM_000535.6(PMS2): c.1939A> T (p.Lys647Ter) | SNV | Pathogenic | rs201451115 | GRCh37 | Chr 7, 6026457: 6026457 |
| 1268 | PMS2 | NM_000535.6(PMS2): c.2174+1G> A | SNV | Pathogenic | rs267608172 | GRCh37 | Chr 7, 6022454: 6022454 |
| 1269 | PMS2 | NM_000535.6(PMS2): c.2192_2196delTAACT (p.Leu731Cysfs) | deletion | Pathogenic | rs63750695 | GRCh37 | Chr 7, 6018306: 6018310 |
| 1270 | PMS2 | NM_000535.6(PMS2): c.219_220dupTG (p.Gly74Valfs) | duplication | Pathogenic | rs587779336 | GRCh37 | Chr 7, 6043633: 6043634 |
| 1271 | PMS2 | NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs) | deletion | Pathogenic | rs267608173 | GRCh37 | Chr 7, 6018256: 6018259 |
| 1272 | PMS2 | NM_000535.6(PMS2): c.2276-113_2445+1596del | deletion | Pathogenic | | GRCh37 | Chr 7, 6015623: 6017501 |
| 1273 | PMS2 | NM_000535.6(PMS2): c.2276-91_2445+790del | deletion | Pathogenic | | GRCh37 | Chr 7, 6016429: 6017479 |
| 1274 | PMS2 | NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs) | deletion | Pathogenic | rs267608160 | GRCh37 | Chr 7, 6017300: 6017303 |
| 1275 | PMS2 | NM_000535.6(PMS2): c.24-12_107delinsAAAT | indel | Pathogenic | | GRCh37 | Chr 7, 6045579: 6045674 |
| 1276 | PMS2 | NM_000535.6(PMS2): c.24-?_163+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1277 | PMS2 | NM_000535.6(PMS2): c.354-?_*(160_?)del | deletion | Pathogenic | | GRCh38 | Chr 7, 5973239: 6002636 |
| 1278 | PMS2 | NM_000535.6(PMS2): c.354-?_803+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1279 | PMS2 | NM_000535.6(PMS2): c.538-478_705+456del | deletion | Pathogenic | | GRCh37 | Chr 7, 6038283: 6039384 |
| 1280 | PMS2 | NM_000535.6(PMS2): c.543delT (p.Tyr181Terfs) | deletion | Pathogenic | rs63751029 | GRCh37 | Chr 7, 6038901: 6038901 |
| 1281 | PMS2 | NM_000535.6(PMS2): c.593dupT (p.Arg199Profs) | duplication | Pathogenic | rs267608148 | GRCh37 | Chr 7, 6038851: 6038851 |
| 1282 | PMS2 | NM_000535.6(PMS2): c.697C> T (p.Gln233Ter) | SNV | Pathogenic | rs587779343 | GRCh37 | Chr 7, 6038747: 6038747 |
| 1283 | PMS2 | NM_000535.6(PMS2): c.703C> T (p.Gln235Ter) | SNV | Pathogenic | rs63750261 | GRCh37 | Chr 7, 6038741: 6038741 |
| 1284 | PMS2 | NM_000535.6(PMS2): c.706-?_803+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1285 | PMS2 | NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs) | indel | Pathogenic | rs267608150 | GRCh37 | Chr 7, 6037019: 6037024 |
| 1286 | PMS2 | NM_000535.6(PMS2): c.780delC (p.Asp261Metfs) | deletion | Pathogenic | rs587779344 | GRCh37 | Chr 7, 6036980: 6036980 |
| 1287 | PMS2 | NM_000535.6(PMS2): c.802dupT (p.Tyr268Leufs) | duplication | Pathogenic | rs267608149 | GRCh37 | Chr 7, 6036958: 6036958 |
| 1288 | PMS2 | NM_000535.5(PMS2): c.804-60_804-59insJN866832.1 | insertion | Pathogenic | | | Chr na, -1: -1 |
| 1289 | PMS2 | NM_000535.6(PMS2): c.804-?_2006+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1290 | PMS2 | NM_000535.6(PMS2): c.804-?_903+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1291 | PMS2 | NM_000535.6(PMS2): c.861_864delACAG (p.Arg287Serfs) | deletion | Pathogenic | rs267608154 | GRCh37 | Chr 7, 6035204: 6035207 |
| 1292 | PMS2 | NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs) | deletion | Pathogenic | rs63750246 | GRCh37 | Chr 7, 6035205: 6035206 |
| 1293 | PMS2 | NM_000535.6(PMS2): c.904-?_*(160_?)del | deletion | Pathogenic | | GRCh38 | Chr 7, 5973239: 5992057 |
| 1294 | PMS2 | NM_000535.6(PMS2): c.904-?_1144+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1295 | PMS2 | NM_000535.6(PMS2): c.904-?_988+?del | deletion | Pathogenic | | | Chr na, -1: -1 |
| 1296 | PMS2 | NM_000535.6(PMS2): c.943C> T (p.Arg315Ter) | SNV | Pathogenic | rs200640585 | GRCh37 | Chr 7, 6031649: 6031649 |
| 1297 | PMS2 | NM_000535.6(PMS2): c.949C> T (p.Gln317Ter) | SNV | Pathogenic | rs143277125 | GRCh37 | Chr 7, 6031643: 6031643 |
| 1298 | PMS2 | NM_000535.6(PMS2): c.989-296_1144+706del | deletion | Pathogenic | | GRCh37 | Chr 7, 6028725: 6029882 |
| 1299 | PMS2 | NM_000535.6(PMS2): c.989-2A> G | SNV | Likely pathogenic | rs587779347 | GRCh37 | Chr 7, 6029588: 6029588 |
| 1300 | PMS2 | NM_000535.6(PMS2): c.989-?_*(160_?)del | deletion | Pathogenic | | GRCh38 | Chr 7, 5973239: 5989955 |
| 1301 | PMS2 | NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) | SNV | Pathogenic | rs63750871 | GRCh37 | Chr 7, 6042221: 6042221 |
| 1302 | PMS2 | NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) | deletion | Pathogenic | rs587776715 | GRCh37 | Chr 7, 6027175: 6027175 |
| 1303 | PMS2 | NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) | SNV | Pathogenic | rs63751466 | GRCh37 | Chr 7, 6017260: 6017260 |
| 1304 | PMS2 | NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) | deletion | Pathogenic | rs63750049 | GRCh38 | Chr 7, 5989923: 5989923 |
| 1305 | PMS2 | NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) | SNV | Pathogenic | rs63750451 | GRCh37 | Chr 7, 6026514: 6026514 |
| 1306 | PMS2 | NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) | SNV | Likely pathogenic | rs121434629 | GRCh37 | Chr 7, 6045549: 6045549 |
| 1307 | MSH6 | NM_000179.2(MSH6): c.3516_3517delAG (p.Arg1172Serfs) | deletion | Pathogenic | rs398123232 | GRCh37 | Chr 2, 48032126: 48032127 |
