NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
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rs63751466
|
0.00001
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NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
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rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
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NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
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|
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NM_000535.5(PMS2):c.(?_-87)_23+?del
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|
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NM_000535.5(PMS2):c.1145-1350_*20545del
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|
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NM_000535.5(PMS2):c.354-?_(*160_?)del
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NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
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NM_000535.5(PMS2):c.804-?_2006+?del
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NM_000535.5(PMS2):c.904-?_(*160_?)del
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|
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NM_000535.5(PMS2):c.904-?_1144+?del
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NM_000535.5(PMS2):c.989-?_(*160_?)del
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|
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NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
|
|
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NM_000535.6(PMS2):c.1145-?_2174+?del
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NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
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NM_000535.6(PMS2):c.24-?_163+?del
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NM_000535.6(PMS2):c.354-?_803+?del
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NM_000535.6(PMS2):c.706-?_803+?del
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NM_000535.6(PMS2):c.804-?_903+?del
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NM_000535.6(PMS2):c.904-?_988+?del
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NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
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NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
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NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
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NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
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NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
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NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
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NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
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NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
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NM_000535.7(PMS2):c.538-478_705+456del
|
|
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NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
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NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
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NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
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NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
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NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
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NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
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NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
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NM_000535.7(PMS2):c.989-296_1144+706del
|
|
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NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
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