1 |
MSH6
|
NM_000179.2(MSH6): c.3573dup (p.Val1192fs)
|
duplication |
Pathogenic |
rs1057517764
|
2:48032773-48032773 |
2:47805634-47805634 |
2 |
MSH6
|
NM_000179.2(MSH6): c.3449T> A (p.Leu1150Ter)
|
single nucleotide variant |
Pathogenic |
rs1057517763
|
2:48032059-48032059 |
2:47804920-47804920 |
3 |
PMS2
|
NM_000535.7(PMS2): c.1743del (p.Glu582fs)
|
deletion |
Pathogenic |
rs1057517801
|
7:6026653-6026653 |
7:5987022-5987022 |
4 |
PMS2
|
NM_000535.7(PMS2): c.445del (p.Tyr149fs)
|
deletion |
Pathogenic |
rs769742496
|
7:6042176-6042176 |
7:6002545-6002545 |
5 |
PMS2
|
NM_000535.7(PMS2): c.2140C> T (p.Gln714Ter)
|
single nucleotide variant |
Pathogenic |
rs1057524433
|
7:6022489-6022489 |
7:5982858-5982858 |
6 |
PMS2
|
NM_000535.7(PMS2): c.1376C> G (p.Ser459Ter)
|
single nucleotide variant |
Pathogenic |
rs587780724
|
7:6027020-6027020 |
7:5987389-5987389 |
7 |
MSH2
|
NM_000251.2(MSH2): c.350G> A (p.Trp117Ter)
|
single nucleotide variant |
Pathogenic |
rs786202083
|
2:47635678-47635678 |
2:47408539-47408539 |
8 |
MSH2
|
NM_000251.2(MSH2): c.1308dup (p.Val437fs)
|
duplication |
Pathogenic |
rs1060502035
|
2:47672718-47672718 |
2:47445579-47445579 |
9 |
MSH2
|
NM_000251.2(MSH2): c.1796del (p.Val598_Leu599insTer)
|
deletion |
Pathogenic |
rs1060502039
|
2:47702200-47702200 |
2:47475061-47475061 |
10 |
MSH2
|
NM_000251.2(MSH2): c.943-1G> T
|
single nucleotide variant |
Pathogenic |
rs12476364
|
2:47643434-47643434 |
2:47416295-47416295 |
11 |
MSH6
|
NM_000179.2(MSH6): c.896del (p.Lys299fs)
|
deletion |
Pathogenic |
rs1060502941
|
2:48026018-48026018 |
2:47798879-47798879 |
12 |
MSH2
|
NM_000251.2(MSH2): c.2640_2656del (p.Glu881fs)
|
deletion |
Pathogenic |
rs1064792951
|
2:47709923-47709939 |
2:47482784-47482800 |
13 |
MSH6
|
NM_000179.2(MSH6): c.2010del (p.Gly670_Leu671insTer)
|
deletion |
Pathogenic |
rs1060502918
|
2:48027132-48027132 |
2:47799993-47799993 |
14 |
MSH6
|
NM_000179.2(MSH6): c.2735G> A (p.Trp912Ter)
|
single nucleotide variant |
Pathogenic |
rs1060502876
|
2:48027857-48027857 |
2:47800718-47800718 |
15 |
MSH6
|
NM_000179.2(MSH6): c.873_874del (p.Asn291fs)
|
deletion |
Pathogenic |
rs1060502888
|
2:48025995-48025996 |
2:47798856-47798857 |
16 |
MSH6
|
NM_000179.2(MSH6): c.3253del (p.Thr1085fs)
|
deletion |
Pathogenic |
rs1060502891
|
2:48030639-48030639 |
2:47803500-47803500 |
17 |
MSH6
|
NM_000179.2(MSH6): c.3556+1G> A
|
single nucleotide variant |
Pathogenic |
rs1060502926
|
2:48032167-48032167 |
2:47805028-47805028 |
18 |
MSH6
|
NM_000179.2(MSH6): c.1572C> A (p.Tyr524Ter)
|
single nucleotide variant |
Pathogenic |
rs587779215
|
2:48026694-48026694 |
2:47799555-47799555 |
19 |
MSH6
|
NM_000179.2(MSH6): c.1815_1816del (p.Lys606fs)
|
deletion |
Pathogenic |
rs1060502886
|
2:48026937-48026938 |
2:47799798-47799799 |
20 |
MSH6
|
NM_000179.2(MSH6): c.2550C> G (p.Tyr850Ter)
|
single nucleotide variant |
Pathogenic |
rs374230313
|
2:48027672-48027672 |
2:47800533-47800533 |
21 |
MSH6
|
NM_000179.2(MSH6): c.2991del (p.Lys997fs)
|
deletion |
Pathogenic |
rs1060502890
|
2:48028113-48028113 |
2:47800974-47800974 |
22 |
MSH6
|
NM_000179.2(MSH6): c.3827_3830dup (p.Asp1277fs)
|
duplication |
Pathogenic |
rs1060502903
|
2:48033616-48033619 |
2:47806477-47806480 |
23 |
MSH6
|
NM_000179.2(MSH6): c.442_443del (p.Leu148fs)
|
deletion |
Pathogenic |
rs1060502875
|
2:48018247-48018248 |
2:47791108-47791109 |
24 |
MLH1
|
NM_000249.3(MLH1): c.390C> G (p.Tyr130Ter)
|
single nucleotide variant |
Pathogenic |
rs1060500689
|
3:37048491-37048491 |
3:37007000-37007000 |
25 |
MLH1
|
NM_000249.3(MLH1): c.2259del (p.Phe753fs)
|
deletion |
Pathogenic |
rs1060500698
|
3:37092132-37092132 |
3:37050641-37050641 |
26 |
MLH1
|
NM_000249.3(MLH1): c.1105dup (p.Ser369fs)
|
duplication |
Pathogenic |
rs1060500699
|
3:37067194-37067194 |
3:37025703-37025703 |
27 |
MSH6
|
NM_000179.2(MSH6): c.3577_3581del (p.Glu1193fs)
|
deletion |
Pathogenic |
rs1060502881
|
2:48032777-48032781 |
2:47805638-47805642 |
28 |
PMS2
|
NM_000535.7(PMS2): c.1348A> T (p.Lys450Ter)
|
single nucleotide variant |
Pathogenic |
rs1060503142
|
7:6027048-6027048 |
7:5987417-5987417 |
29 |
PMS2
|
NM_000535.7(PMS2): c.1864_1865del (p.Met622fs)
|
deletion |
Pathogenic |
rs1060503137
|
7:6026531-6026532 |
7:5986900-5986901 |
30 |
PMS2
|
NM_000535.7(PMS2): c.684_685CT[1] (p.Ser229fs)
|
short repeat |
Pathogenic |
rs746766787
|
7:6038757-6038758 |
7:5999126-5999127 |
31 |
PMS2
|
NM_000535.7(PMS2): c.1653C> A (p.Cys551Ter)
|
single nucleotide variant |
Pathogenic |
rs876659162
|
7:6026743-6026743 |
7:5987112-5987112 |
32 |
PMS2
|
NM_000535.7(PMS2): c.2192T> G (p.Leu731Ter)
|
single nucleotide variant |
Pathogenic |
rs1060503110
|
7:6018310-6018310 |
7:5978679-5978679 |
33 |
MSH2
|
NM_000251.2(MSH2): c.876dup (p.Thr293fs)
|
duplication |
Pathogenic |
rs1553352505
|
2:47641491-47641491 |
2:47414352-47414352 |
34 |
MSH2
|
NM_000251.2(MSH2): c.1968C> A (p.Tyr656Ter)
|
single nucleotide variant |
Pathogenic |
rs63751317
|
2:47702372-47702372 |
2:47475233-47475233 |
35 |
MSH6
|
NM_000179.2(MSH6): c.1615_1617CTT[1] (p.Leu540del)
|
short repeat |
Pathogenic |
rs1064793600
|
2:48026740-48026742 |
2:47799601-47799603 |
36 |
MSH2
|
NM_000251.2(MSH2): c.1565_1568del (p.Tyr522fs)
|
deletion |
Pathogenic |
rs1064793561
|
2:47693851-47693854 |
2:47466712-47466715 |
37 |
MSH6
|
NM_000179.2(MSH6): c.1933G> T (p.Glu645Ter)
|
single nucleotide variant |
Pathogenic |
rs1064795591
|
2:48027055-48027055 |
2:47799916-47799916 |
38 |
MSH6
|
NM_000179.2(MSH6): c.2028_2029del (p.Lys676_Ser677insTer)
|
deletion |
Pathogenic |
rs1064794055
|
2:48027150-48027151 |
2:47800011-47800012 |
39 |
MSH6
|
NM_000179.2(MSH6): c.3083C> G (p.Ser1028Ter)
|
single nucleotide variant |
Pathogenic |
rs876660853
|
2:48028205-48028205 |
2:47801066-47801066 |
40 |
MSH6
|
NM_000179.2(MSH6): c.2690dup (p.Asn897fs)
|
duplication |
Pathogenic |
rs1553414010
|
2:48027812-48027812 |
2:47800673-47800673 |
41 |
MSH6
|
NM_000179.2(MSH6): c.3934_3937dup (p.Ile1313fs)
|
duplication |
Pathogenic |
rs760190301
|
2:48033723-48033726 |
2:47806584-47806587 |
42 |
MSH6
|
NM_000179.2(MSH6): c.3714_3715TA[1] (p.Ile1239fs)
|
short repeat |
Pathogenic |
rs1064794384
|
2:48033412-48033413 |
2:47806273-47806274 |
43 |
MLH1
|
NM_000249.3(MLH1): c.9_21del (p.Phe3fs)
|
deletion |
Pathogenic |
rs1064795341
|
3:37035047-37035059 |
3:36993556-36993568 |
44 |
MLH1
|
NM_000249.3(MLH1): c.67dup (p.Glu23fs)
|
duplication |
Pathogenic |
rs63750822
|
3:37035105-37035105 |
3:36993614-36993614 |
45 |
MLH1
|
NM_000249.3(MLH1): c.2142G> A (p.Trp714Ter)
|
single nucleotide variant |
Pathogenic |
rs63750978
|
3:37092015-37092015 |
3:37050524-37050524 |
46 |
PMS2
|
NM_000535.7(PMS2): c.1579_1580del (p.Arg527fs)
|
deletion |
Pathogenic |
rs1064793234
|
7:6026816-6026817 |
7:5987185-5987186 |
47 |
PMS2
|
NM_000535.7(PMS2): c.828C> A (p.Cys276Ter)
|
single nucleotide variant |
Pathogenic |
rs757324104
|
7:6035240-6035240 |
7:5995609-5995609 |
48 |
PMS2
|
NM_000535.7(PMS2): c.688_689GT[1] (p.Phe231fs)
|
short repeat |
Pathogenic |
rs1064795447
|
7:6038753-6038754 |
7:5999122-5999123 |
49 |
PMS2
|
NM_000535.7(PMS2): c.655G> T (p.Gly219Ter)
|
single nucleotide variant |
Pathogenic |
rs1064796190
|
7:6038789-6038789 |
7:5999158-5999158 |
50 |
PMS2
|
NM_000535.7(PMS2): c.1970dup (p.Asn657fs)
|
duplication |
Pathogenic |
rs1064794566
|
7:6026426-6026426 |
7:5986795-5986795 |