NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)
|
rs1396658541
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1807A>T (p.Lys603Ter)
|
rs1238126377
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)
|
rs765763906
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter)
|
rs63751228
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
|
rs878854037
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter)
|
rs878854488
|
0.00001
|
NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter)
|
rs878854491
|
0.00001
|
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
|
|
|
NC_000002.11:g.(?_47510090)_(47637485_?)del
|
|
|
NC_000002.11:g.(?_47596635)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47596639)_(47705664_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47602448_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47604226_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47607118_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47690303_?)del
|
|
|
NC_000002.11:g.(?_47596645)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47600592)_(47604226_?)del
|
|
|
NC_000002.11:g.(?_47600592)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47602363)_(47602448_?)del
|
|
|
NC_000002.11:g.(?_47604133)_(47612369_?)del
|
|
|
NC_000002.11:g.(?_47604143)_(47607118_?)del
|
|
|
NC_000002.11:g.(?_47604143)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47612295)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47612824)_(47615711_?)del
|
|
|
NC_000002.11:g.(?_47613701)_(47613752_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47635704_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47630150)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47630161)_(47643668_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47635714_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47643588_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47690313_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47693967_?)del
|
|
|
NC_000002.11:g.(?_47630252)_(47710088_?)del
|
|
|
NC_000002.11:g.(?_47630311)_(47630641_?)del
|
|
|
NC_000002.11:g.(?_47630325)_(47643574_?)del
|
|
|
NC_000002.11:g.(?_47630331)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47639709_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47635062)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47635704_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47635530)_(48035526_?)del
|
|
|
NC_000002.11:g.(?_47637213)_(47637531_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47637521_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47637223)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47639543)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47639762)_(47643852_?)del
|
|
|
NC_000002.11:g.(?_47641398)_(47643578_?)del
|
|
|
NC_000002.11:g.(?_47643425)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47657090_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47698211_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47656871)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47672806_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47669476)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47690303_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47693957_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47690160)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47693787)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47698094)_(47698211_?)del
|
|
|
NC_000002.11:g.(?_47698094)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47702154)_(47705668_?)del
|
|
|
NC_000002.11:g.(?_47702154)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47703496)_(47703720_?)del
|
|
|
NC_000002.11:g.(?_47705401)_(47705668_?)dup
|
|
|
NC_000002.11:g.(?_47707825)_(47708020_?)del
|
|
|
NC_000002.11:g.(?_47707825)_(47710120_?)del
|
|
|
NC_000002.11:g.(?_47948073)_(48035379_?)del
|
|
|
NC_000002.11:g.(?_47969473)_48033914del
|
|
|
NC_000002.11:g.(?_48010211)_(48033885_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48010652_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48023212_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48028304_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48032176_?)del
|
|
|
NC_000002.11:g.(?_48010373)_(48034014_?)del
|
|
|
NC_000002.11:g.(?_48018046)_(48018282_?)del
|
|
|
NC_000002.11:g.(?_48018056)_(48032572_?)del
|
|
|
NC_000002.11:g.(?_48018060)_(48033503_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48028304_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48033800_?)del
|
|
|
NC_000002.11:g.(?_48023023)_(48033999_?)del
|
|
|
NC_000002.11:g.(?_48023027)_(48032172_?)del
|
|
|
NC_000002.11:g.(?_48025740)_(48032572_?)del
|
|
|
NC_000002.11:g.(?_48025740)_(48032937_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48030834_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48032176_?)del
|
|
|
NC_000002.11:g.(?_48030537)_(48034014_?)del
|
|
|
NC_000002.11:g.38121110_47669522inv
|
|
|
NC_000002.12:g.(?_47369496)_(47369591_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47379979_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47410382_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47426138_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47442436_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47445667_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47471072_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47480881_?)del
|
|
|
NC_000002.12:g.(?_47369496)_(47482959_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47369587_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47379975_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47416435_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47429947_?)del
|
|
|
NC_000002.12:g.(?_47369500)_(47445663_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47369591_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47369506)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47379979_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47373453)_(47445667_?)del
|
|
|
NC_000002.12:g.(?_47373457)_(47379975_?)del
|
|
|
NC_000002.12:g.(?_47373457)_(47386619_?)del
|
|
|
NC_000002.12:g.(?_47373463)_(47377077_?)del
|
|
|
NC_000002.12:g.(?_47375224)_(47377087_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47377087_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47410382_?)del
|
|
|
NC_000002.12:g.(?_47377004)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47377008)_(47386619_?)del
|
|
|
NC_000002.12:g.(?_47377008)_(47410378_?)del
|
|
|
NC_000002.12:g.(?_47378939)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47378943)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47385055)_(47391097_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47386613_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47386623_?)del
|
|
|
NC_000002.12:g.(?_47385156)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47385160)_(47403408_?)del
|
|
|
NC_000002.12:g.(?_47385160)_(47482955_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47414428_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47403011)_(47482981_?)del
|
|
|
NC_000002.12:g.(?_47403113)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47403113)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47403412_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47405445_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47408565_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47410382_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47414428_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47416439_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47429951_?)del
|
|
|
NC_000002.12:g.(?_47403182)_(47482959_?)del
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|
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NC_000002.12:g.(?_47403186)_(47410378_?)del
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NC_000002.12:g.(?_47403186)_(47429947_?)del
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NC_000002.12:g.(?_47403192)_(47408555_?)del
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NC_000002.12:g.(?_47408391)_(47412570_?)del
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NC_000002.12:g.(?_47408395)_(47414424_?)del
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NC_000002.12:g.(?_47408395)_(47429947_?)del
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NC_000002.12:g.(?_47410084)_(47412570_?)del
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NC_000002.12:g.(?_47410084)_(47414428_?)del
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NC_000002.12:g.(?_47410084)_(47429951_?)del
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NC_000002.12:g.(?_47410084)_(47482959_?)del
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NC_000002.12:g.(?_47410088)_(47412566_?)del
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NC_000002.12:g.(?_47412404)_(47414428_?)del
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NC_000002.12:g.(?_47412404)_(47416439_?)del
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|
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NC_000002.12:g.(?_47412404)_(47429951_?)del
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|
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NC_000002.12:g.(?_47412404)_(47482981_?)del
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NC_000002.12:g.(?_47414259)_(47414428_?)del
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NC_000002.12:g.(?_47416286)_(47416439_?)del
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NC_000002.12:g.(?_47425835)_(47471072_?)del
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|
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NC_000002.12:g.(?_47429732)_(47445667_?)del
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NC_000002.12:g.(?_47429732)_(47466818_?)del
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|
|
NC_000002.12:g.(?_47429736)_(47445663_?)del
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NC_000002.12:g.(?_47442337)_(47445667_?)dup
|
|
|
NC_000002.12:g.(?_47442337)_(47482959_?)del
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NC_000002.12:g.(?_47445538)_(47482959_?)del
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NC_000002.12:g.(?_47463021)_(47471072_?)del
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NC_000002.12:g.(?_47463021)_(47475280_?)del
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NC_000002.12:g.(?_47463021)_(47482959_?)del
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NC_000002.12:g.(?_47463025)_(47475276_?)del
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NC_000002.12:g.(?_47466648)_(47466818_?)del
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NC_000002.12:g.(?_47470955)_(47482981_?)del
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NC_000002.12:g.(?_47470959)_(47482955_?)del
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NC_000002.12:g.(?_47475015)_(47480881_?)del
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NC_000002.12:g.(?_47475015)_(47482959_?)del
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NC_000002.12:g.(?_47475019)_(47480877_?)del
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NC_000002.12:g.(?_47478262)_(47478529_?)del
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NC_000002.12:g.(?_47478262)_(47480881_?)del
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NC_000002.12:g.(?_47478262)_(47482959_?)del
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NC_000002.12:g.(?_47478262)_(47482981_?)del
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NC_000002.12:g.(?_47478266)_(47478525_?)del
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NC_000002.12:g.(?_47478266)_(47482955_?)del
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NC_000002.12:g.(?_47482769)_(47482959_?)del
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NC_000002.12:g.(?_47482769)_(47482981_?)del
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NC_000002.12:g.(?_47783224)_(47783503_?)del
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NC_000002.12:g.(?_47783224)_(47791133_?)del
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NC_000002.12:g.(?_47783224)_(47805037_?)del
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NC_000002.12:g.(?_47783224)_(47806870_?)del
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NC_000002.12:g.(?_47783228)_(47783499_?)del
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NC_000002.12:g.(?_47783228)_(47791129_?)del
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NC_000002.12:g.(?_47783228)_(47805033_?)del
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NC_000002.12:g.(?_47783228)_(47806866_?)del
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NC_000002.12:g.(?_47783234)_(47783503_?)del
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NC_000002.12:g.(?_47783234)_(47791133_?)del
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NC_000002.12:g.(?_47790917)_(47791133_?)del
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NC_000002.12:g.(?_47790917)_(47801165_?)del
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NC_000002.12:g.(?_47790917)_(47805037_?)del
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NC_000002.12:g.(?_47795884)_(47796073_?)del
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NC_000002.12:g.(?_47795888)_(47803691_?)del
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NC_000002.12:g.(?_47798601)_(47801165_?)del
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NC_000002.12:g.(?_47801962)_(47806306_?)del
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NC_000002.12:g.(?_47803398)_(47805474_?)del
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NC_000002.12:g.(?_47803410)_(47803695_?)del
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NC_000002.12:g.(?_47803410)_(47805037_?)del
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NC_000002.12:g.(?_47803414)_(47803691_?)del
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NC_000002.12:g.(?_47804900)_(47805717_?)del
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NC_000002.12:g.(?_47804904)_(47805713_?)del
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NC_000002.12:g.47803429_47807697del
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NC_000003.11:g.(?_37034542)_(37035164_?)del
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NC_000003.11:g.(?_37034542)_(37042554_?)del
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NC_000003.11:g.(?_37034542)_(37050402_?)del
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NC_000003.11:g.(?_37034542)_(37059100_?)del
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NC_000003.11:g.(?_37034542)_(37061964_?)del
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NC_000003.11:g.(?_37034816)_(37037072_?)del
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NC_000003.11:g.(?_37034870)_(37035863_?)del
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NC_000003.11:g.(?_37035033)_(37035160_?)del
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NC_000003.11:g.(?_37037900)_(37038207_?)del
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NC_000003.11:g.(?_37038104)_(37092150_?)del
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NC_000003.11:g.(?_37042436)_(37042554_?)del
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NC_000003.11:g.(?_37042436)_(37092144_?)del
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NC_000003.11:g.(?_37045882)_(37045975_?)del
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NC_000003.11:g.(?_37045882)_(37048564_?)del
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NC_000003.11:g.(?_37045882)_(37050406_?)del
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NC_000003.11:g.(?_37045882)_(37053600_?)del
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NC_000003.11:g.(?_37048472)_(37050406_?)del
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NC_000003.11:g.(?_37048472)_(37053600_?)del
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NC_000003.11:g.(?_37050291)_(37050406_?)del
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NC_000003.11:g.(?_37050291)_(37059100_?)del
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NC_000003.11:g.(?_37050291)_(37061964_?)del
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NC_000003.11:g.(?_37050291)_(37067508_?)dup
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NC_000003.11:g.(?_37050291)_(37092144_?)del
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NC_000003.11:g.(?_37055913)_(37059100_?)del
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NC_000003.11:g.(?_37055913)_(37061964_?)del
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NC_000003.11:g.(?_37061789)_(37061964_?)del
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NC_000003.11:g.(?_37061789)_(37083832_?)del
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NC_000003.11:g.(?_37067118)_(37070433_?)del
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NC_000003.11:g.(?_37067118)_(37070433_?)dup
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NC_000003.11:g.(?_37070265)_(37070433_?)del
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NC_000003.11:g.(?_37083749)_(37083832_?)del
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NC_000003.11:g.(?_37091967)_(37092144_?)del
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NC_000003.11:g.(?_37092052)_(37100470_?)del
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NC_000003.11:g.37056022_37056023insSVA
|
rs2125823229
|
|
NC_000003.12:g.(?_36993031)_(37050673_?)del
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|
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NC_000003.12:g.(?_36993051)_(36996719_?)del
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NC_000003.12:g.(?_36993051)_(37004480_?)del
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NC_000003.12:g.(?_36993051)_(37008915_?)del
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NC_000003.12:g.(?_36993051)_(37012109_?)del
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NC_000003.12:g.(?_36993051)_(37017605_?)del
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NC_000003.12:g.(?_36993051)_(37028942_?)del
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NC_000003.12:g.(?_36993051)_(37050659_?)del
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NC_000003.12:g.(?_36993051)_(37050663_?)del
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NC_000003.12:g.(?_36996608)_(37001063_?)del
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NC_000003.12:g.(?_36996609)_(37001063_?)del
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NC_000003.12:g.(?_36996609)_(37050663_?)del
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NC_000003.12:g.(?_37004391)_(37014554_?)del
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NC_000003.12:g.(?_37006981)_(37007073_?)del
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NC_000003.12:g.(?_37006981)_(37042341_?)del
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NC_000003.12:g.(?_37008800)_(37012109_?)del
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NC_000003.12:g.(?_37008800)_(37026017_?)del
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NC_000003.12:g.(?_37008804)_(37012109_?)del
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NC_000003.12:g.(?_37011810)_(37012109_?)del
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NC_000003.12:g.(?_37011810)_(37014554_?)del
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NC_000003.12:g.(?_37014422)_(37014554_?)del
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NC_000003.12:g.(?_37014426)_(37028938_?)del
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NC_000003.12:g.(?_37017496)_(37017609_?)del
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NC_000003.12:g.(?_37020300)_(37050663_?)del
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NC_000003.12:g.(?_37040176)_(37042341_?)del
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NC_000003.12:g.(?_37040176)_(37050653_?)del
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NC_000003.12:g.(?_37040176)_(37050663_?)del
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NC_000003.12:g.(?_37040180)_(37050659_?)del
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NC_000003.12:g.(?_37047509)_(37047693_?)del
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NC_000003.12:g.(?_37047509)_(37050653_?)del
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NC_000003.12:g.(?_37047509)_(37050663_?)del
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NC_000003.12:g.(?_37047513)_(37047689_?)del
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NC_000003.12:g.(?_37048507)_(37049027_?)del
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NC_000003.12:g.(?_37048507)_(37050653_?)del
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NC_000003.12:g.(?_37048507)_(37050663_?)del
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NC_000003.12:g.(?_37050480)_(37050659_?)del
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NC_000007.13:g.(?_5834270)_(6018235_?)del
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NC_000007.13:g.(?_6013020)_6031698del
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NC_000007.13:g.(?_6013030)_(6017398_?)del
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NC_000007.13:g.(?_6013030)_(6017408_?)del
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NC_000007.13:g.(?_6013030)_(6018337_?)del
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NC_000007.13:g.(?_6018217)_(6022632_?)del
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NC_000007.13:g.(?_6022445)_(6022632_?)del
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NC_000007.13:g.(?_6022449)_(6022628_?)del
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NC_000007.13:g.(?_6026370)_(6037074_?)del
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NC_000007.13:g.(?_6026380)_(6038916_?)del
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NC_000007.13:g.(?_6026380)_(6042277_?)del
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NC_000007.13:g.(?_6026380)_(6043699_?)del
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NC_000007.13:g.(?_6026384)_(6027257_?)del
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NC_000007.13:g.(?_6026815)_(6032194_?)del
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NC_000007.13:g.(?_6031594)_(6037064_?)del
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NC_000007.13:g.(?_6031594)_(6049099_?)del
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NC_000007.13:g.(?_6035155)_(6043699_?)del
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NC_000007.13:g.(?_6035155)_(6049099_?)del
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NC_000007.13:g.(?_6038729)_(6049099_?)del
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NC_000007.13:g.(?_6042074)_(6042321_?)del
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NC_000007.13:g.(?_6042074)_(6049099_?)del
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NC_000007.13:g.(?_6043311)_(6049099_?)del
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NC_000007.13:g.(?_6045513)_(6049099_?)del
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NC_000007.13:g.(?_6045672)_(6054968_?)del
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NC_000007.13:g.6035323_6035324insSVA
|
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NC_000007.14:g.(?_5972239)_(6010106_?)del
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NC_000007.14:g.(?_5973389)_(5973552_?)del
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NC_000007.14:g.(?_5973389)_(5983001_?)del
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NC_000007.14:g.(?_5973393)_(5973548_?)del
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NC_000007.14:g.(?_5973393)_(5982997_?)del
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NC_000007.14:g.(?_5973399)_(5973552_?)del
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NC_000007.14:g.(?_5973399)_(5983001_?)del
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NC_000007.14:g.(?_5977578)_(5977767_?)del
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NC_000007.14:g.(?_5977578)_(5978706_?)del
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NC_000007.14:g.(?_5977578)_(5983001_?)del
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NC_000007.14:g.(?_5977582)_(5977763_?)del
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NC_000007.14:g.(?_5977582)_(5982997_?)del
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NC_000007.14:g.(?_5978586)_(5978706_?)del
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NC_000007.14:g.(?_5986749)_(5987630_?)del
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NC_000007.14:g.(?_5986749)_(5989965_?)del
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NC_000007.14:g.(?_5986749)_(5992067_?)del
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NC_000007.14:g.(?_5986749)_(5995643_?)del
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NC_000007.14:g.(?_5986749)_(5997433_?)del
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NC_000007.14:g.(?_5986749)_(6009029_?)del
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NC_000007.14:g.(?_5986749)_(6009116_?)del
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NC_000007.14:g.(?_5986753)_(5992063_?)del
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NC_000007.14:g.(?_5986753)_(5997429_?)del
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NC_000007.14:g.(?_5986753)_(6002642_?)del
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NC_000007.14:g.(?_5986753)_(6009025_?)del
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NC_000007.14:g.(?_5989790)_(5989965_?)del
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NC_000007.14:g.(?_5989790)_(5992067_?)del
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|
|
NC_000007.14:g.(?_5989790)_(5995643_?)del
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|
NC_000007.14:g.(?_5989790)_(6009029_?)del
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|
NC_000007.14:g.(?_5991963)_(5999285_?)del
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NC_000007.14:g.(?_5991963)_(6002646_?)del
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NC_000007.14:g.(?_5991963)_(6006041_?)del
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NC_000007.14:g.(?_5991963)_(6009029_?)del
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|
NC_000007.14:g.(?_5991967)_(5997429_?)del
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NC_000007.14:g.(?_5995524)_(5995643_?)del
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NC_000007.14:g.(?_5995524)_(5997433_?)del
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NC_000007.14:g.(?_5995524)_(5999285_?)del
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NC_000007.14:g.(?_5995528)_(5995639_?)del
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|
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NC_000007.14:g.(?_5997316)_(5997433_?)del
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NC_000007.14:g.(?_5997316)_(5999285_?)del
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|
NC_000007.14:g.(?_5997316)_(6006041_?)del
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NC_000007.14:g.(?_5999098)_(5999285_?)del
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|
|
NC_000007.14:g.(?_5999098)_(6006041_?)del
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|
|
NC_000007.14:g.(?_5999102)_(6009025_?)del
|
|
|
NC_000007.14:g.(?_6002443)_(6004068_?)del
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|
NC_000007.14:g.(?_6002447)_(6004064_?)del
|
|
|
NC_000007.14:g.(?_6003680)_(6004068_?)del
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|
NC_000007.14:g.(?_6003680)_(6006041_?)del
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|
|
NC_000007.14:g.(?_6005882)_(6006041_?)del
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|
|
NC_000007.14:g.(?_6005886)_(6006037_?)del
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|
|
NC_000007.14:g.(?_6008925)_(6009468_?)del
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|
NC_000007.14:g.(?_6008987)_(6009029_?)del
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|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.2(MSH6):c.3738_3759inv (p.His1248_Ser1251delinsAsnGluTrpTer)
|
|
|
NM_000179.3(MSH6):c.1001_1004del (p.Lys334fs)
|
|
|
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)
|
rs1114167804
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
|
rs1669287624
|
|
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs)
|
rs1553412441
|
|
NM_000179.3(MSH6):c.103_113del (p.Ala35fs)
|
rs1572698011
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1065_1066del (p.Gly355_Gly356insTer)
|
rs2104317288
|
|
NM_000179.3(MSH6):c.1065dup (p.Gly356fs)
|
|
|
NM_000179.3(MSH6):c.1069_1076del (p.Gly356_Asp357insTer)
|
rs2104317612
|
|
NM_000179.3(MSH6):c.106del (p.Ala36fs)
|
|
|
NM_000179.3(MSH6):c.1094G>A (p.Trp365Ter)
|
|
|
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)
|
rs1272484865
|
|
NM_000179.3(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer)
|
rs1553412502
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1120A>T (p.Lys374Ter)
|
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129_1130del (p.Lys377fs)
|
rs1558660612
|
|
NM_000179.3(MSH6):c.1133_1134del (p.Arg378fs)
|
rs2104321566
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.1145del (p.His382fs)
|
rs1669300332
|
|
NM_000179.3(MSH6):c.1153del (p.Arg385fs)
|
|
|
NM_000179.3(MSH6):c.1155_1159dup (p.Asp387fs)
|
|
|
NM_000179.3(MSH6):c.1162dup (p.His388fs)
|
|
|
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
|
|
|
NM_000179.3(MSH6):c.1188_1207del (p.Tyr397fs)
|
rs1669305969
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
NM_000179.3(MSH6):c.118del (p.Ala40fs)
|
rs2103936997
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1222_1226del (p.Pro408fs)
|
rs1669309735
|
|
NM_000179.3(MSH6):c.1223del (p.Pro408fs)
|
rs1553412649
|
|
NM_000179.3(MSH6):c.1233_1236del (p.Arg411fs)
|
rs2104329814
|
|
NM_000179.3(MSH6):c.1233dup (p.Lys412fs)
|
rs2104329942
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter)
|
rs587779914
|
|
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)
|
rs778555956
|
|
NM_000179.3(MSH6):c.1249_1252del (p.Lys417fs)
|
|
|
NM_000179.3(MSH6):c.1250del (p.Lys417fs)
|
rs2104331064
|
|
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1295_1296insAA (p.Phe432fs)
|
rs1060502946
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299del (p.Phe432_Tyr433insTer)
|
rs1553412735
|
|
NM_000179.3(MSH6):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
NM_000179.3(MSH6):c.1307_1310dup (p.His437fs)
|
rs2104335088
|
|
NM_000179.3(MSH6):c.1308C>G (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1315_1318del (p.Asp439fs)
|
rs2104335533
|
|
NM_000179.3(MSH6):c.1323_1324insCAAA (p.Ile442fs)
|
rs1558661368
|
|
NM_000179.3(MSH6):c.1326del (p.Ile442fs)
|
rs1558661380
|
|
NM_000179.3(MSH6):c.1328dup (p.Val444fs)
|
rs1553412755
|
|
NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)
|
rs1060502940
|
|
NM_000179.3(MSH6):c.1339dup (p.Leu447fs)
|
rs2104337509
|
|
NM_000179.3(MSH6):c.1345dup (p.Leu449fs)
|
rs2104337976
|
|
NM_000179.3(MSH6):c.1347_1372dup (p.His458delinsArgTyrSerTer)
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)
|
rs587780538
|
|
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)
|
rs1572722737
|
|
NM_000179.3(MSH6):c.1372del (p.His458fs)
|
|
|
NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)
|
rs864622435
|
|
NM_000179.3(MSH6):c.1392del (p.Ile464fs)
|
rs2104340974
|
|
NM_000179.3(MSH6):c.1398_1399insC (p.Gly467fs)
|
|
|
NM_000179.3(MSH6):c.1406del (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1417del (p.Leu473fs)
|
rs1553412824
|
|
NM_000179.3(MSH6):c.1421_1422del (p.Val474fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1426A>T (p.Lys476Ter)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437_1446del (p.Val480fs)
|
rs2104343962
|
|
NM_000179.3(MSH6):c.1438_1441del (p.Val480fs)
|
rs2104344199
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.144_177dup (p.Leu60fs)
|
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1490_1491del (p.Arg497fs)
|
rs863225400
|
|
NM_000179.3(MSH6):c.1503dup (p.Ile502fs)
|
rs1669339495
|
|
NM_000179.3(MSH6):c.1512del (p.Lys504fs)
|
rs1572723270
|
|
NM_000179.3(MSH6):c.1515T>A (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.1547dup (p.Ile517fs)
|
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1558_1559insTA (p.Gly520fs)
|
rs2104351513
|
|
NM_000179.3(MSH6):c.1569_1570del (p.Tyr524fs)
|
rs1553412960
|
|
NM_000179.3(MSH6):c.1569_1572del (p.Tyr524fs)
|
rs2104352046
|
|
NM_000179.3(MSH6):c.1570_1571insC (p.Tyr524fs)
|
rs878853709
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1572del (p.Thr523_Tyr524insTer)
|
|
|
NM_000179.3(MSH6):c.1586_1587insGATACAGTGTGCTGGAAGG (p.Asp530fs)
|
rs2104352270
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)
|
rs1064794388
|
|
NM_000179.3(MSH6):c.1605C>A (p.Tyr535Ter)
|
rs2104354873
|
|
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)
|
rs1572723640
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
|
rs1669352196
|
|
NM_000179.3(MSH6):c.1614T>G (p.Tyr538Ter)
|
rs63750870
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1626del (p.Glu544fs)
|
rs2104356621
|
|
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1630_1633del (p.Glu544fs)
|
rs1572723723
|
|
NM_000179.3(MSH6):c.1630dup (p.Glu544fs)
|
rs1669354866
|
|
NM_000179.3(MSH6):c.1633A>T (p.Lys545Ter)
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.1646_1649del (p.Ser549fs)
|
|
|
NM_000179.3(MSH6):c.164_177del (p.Pro55fs)
|
rs1558645195
|
|
NM_000179.3(MSH6):c.1661del (p.Arg554fs)
|
rs2104359210
|
|
NM_000179.3(MSH6):c.1664_1674del (p.Ala555fs)
|
|
|
NM_000179.3(MSH6):c.1671dup (p.Val558fs)
|
rs2104359762
|
|
NM_000179.3(MSH6):c.1675_1676dup (p.Phe560fs)
|
rs1669360293
|
|
NM_000179.3(MSH6):c.1690dup (p.Ser564fs)
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1700dup (p.Phe568fs)
|
rs1553413074
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.1707del (p.Phe569fs)
|
rs1669364351
|
|
NM_000179.3(MSH6):c.170_182del (p.Pro57fs)
|
rs876658296
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1721C>G (p.Ser574Ter)
|
rs1669365820
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.1738del (p.Ser580fs)
|
rs1553413116
|
|
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
|
rs41295270
|
|
NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)
|
rs863224474
|
|
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
|
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)
|
rs1553413178
|
|
NM_000179.3(MSH6):c.1794dup (p.Gly599fs)
|
rs587780670
|
|
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs)
|
rs1114167766
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1819del (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1835C>G (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1835del (p.Ser612fs)
|
rs1669380698
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1844_1848del (p.Cys615fs)
|
|
|
NM_000179.3(MSH6):c.1855del (p.Glu619fs)
|
|
|
NM_000179.3(MSH6):c.1866_1869dup (p.Gly624fs)
|
rs2104372607
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1876C>T (p.Gln626Ter)
|
rs1553413253
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901dup (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)
|
rs1669391378
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1918G>T (p.Glu640Ter)
|
rs1669393906
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
NM_000179.3(MSH6):c.1923del (p.Glu641fs)
|
rs869040863
|
|
NM_000179.3(MSH6):c.1926_1930del (p.Tyr642_Arg644delinsTer)
|
rs2104376613
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
|
rs1669395325
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
|
rs2104377567
|
|
NM_000179.3(MSH6):c.1944dup (p.Asp649Ter)
|
rs2104378017
|
|
NM_000179.3(MSH6):c.1946dup (p.Asp649fs)
|
|
|
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1977dup (p.Lys660Ter)
|
|
|
NM_000179.3(MSH6):c.1990dup (p.Ser664fs)
|
|
|
NM_000179.3(MSH6):c.1994_1995del (p.Glu665fs)
|
rs1114167694
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.1A>G (p.Met1Val)
|
rs2103930478
|
|
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2020_2147delinsTTGT (p.Gly674fs)
|
rs1558663954
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.2032G>T (p.Glu678Ter)
|
rs751778243
|
|
NM_000179.3(MSH6):c.2041del (p.Leu681fs)
|
rs1572725436
|
|
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)
|
rs267608057
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
|
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2089del (p.Asp697fs)
|
rs863224475
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2102dup (p.Leu701fs)
|
rs2104388702
|
|
NM_000179.3(MSH6):c.2105C>A (p.Ser702Ter)
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2118del (p.Phe706fs)
|
rs1572725803
|
|
NM_000179.3(MSH6):c.2119dup (p.Glu707fs)
|
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2128del (p.Ile710fs)
|
rs2104390119
|
|
NM_000179.3(MSH6):c.2137del (p.Asp713fs)
|
rs864622257
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2161A>T (p.Arg721Ter)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2195del (p.Arg732fs)
|
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2238dup (p.Leu747fs)
|
rs1553413599
|
|
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
|
rs1572726309
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2265del (p.Gly756fs)
|
rs1669441162
|
|
NM_000179.3(MSH6):c.2268_2274del (p.Gly756_Thr757insTer)
|
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2275dup (p.Leu759fs)
|
rs2104397838
|
|
NM_000179.3(MSH6):c.2276T>C (p.Leu759Pro)
|
rs1553413655
|
|
NM_000179.3(MSH6):c.2277_2281dup (p.Arg761fs)
|
rs1572726468
|
|
NM_000179.3(MSH6):c.2279_2283dup (p.Val762fs)
|
rs2104398078
|
|
NM_000179.3(MSH6):c.2284del (p.Val762fs)
|
rs2104398285
|
|
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
|
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2294dup (p.Cys765fs)
|
rs1553413673
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2298_2299del (p.Thr767fs)
|
|
|
NM_000179.3(MSH6):c.2299_2304del (p.Thr767_Pro768del)
|
rs1669445829
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2308_2311del (p.Gly770fs)
|
rs2104399944
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2332_2335dup (p.Cys779fs)
|
|
|
NM_000179.3(MSH6):c.2335dup (p.Cys779fs)
|
rs2104401401
|
|
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2341C>T (p.Pro781Ser)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2346_2347del (p.Leu782_Cys783insTer)
|
rs1669451548
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2351_2352del (p.Asn784fs)
|
rs1553413717
|
|
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.2364dup (p.Asn789Ter)
|
|
|
NM_000179.3(MSH6):c.2371_2372insAGAC (p.Arg791fs)
|
rs1553413732
|
|
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)
|
rs1558665297
|
|
NM_000179.3(MSH6):c.2413dup (p.Ile805fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
|
rs587779923
|
|
NM_000179.3(MSH6):c.2419dup (p.Glu807fs)
|
rs1553413784
|
|
NM_000179.3(MSH6):c.2428G>T (p.Glu810Ter)
|
|
|
NM_000179.3(MSH6):c.2447del (p.Pro816fs)
|
|
|
NM_000179.3(MSH6):c.246dup (p.Ala83fs)
|
rs1668136752
|
|
NM_000179.3(MSH6):c.2473del (p.Ile825fs)
|
rs1669467747
|
|
NM_000179.3(MSH6):c.2495del (p.Leu832fs)
|
|
|
NM_000179.3(MSH6):c.2497_2498del (p.Lys833fs)
|
|
|
NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs)
|
rs1064794164
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2521del (p.Arg841fs)
|
rs1114167771
|
|
NM_000179.3(MSH6):c.2525del (p.Ala842fs)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2539G>T (p.Glu847Ter)
|
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2552_2607del (p.Ser851fs)
|
rs1669478924
|
|
NM_000179.3(MSH6):c.2559G>C (p.Lys853Asn)
|
rs765873566
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2574del (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2574dup (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2602dup (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2603del (p.Met868fs)
|
rs1669486855
|
|
NM_000179.3(MSH6):c.2607_2617del (p.Cys869fs)
|
|
|
NM_000179.3(MSH6):c.261-1G>A
|
|
|
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
|
rs1669487701
|
|
NM_000179.3(MSH6):c.2626G>T (p.Glu876Ter)
|
|
|
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)
|
rs876660630
|
|
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
|
rs1669491751
|
|
NM_000179.3(MSH6):c.264T>A (p.Cys88Ter)
|
rs2104098243
|
|
NM_000179.3(MSH6):c.2652dup (p.Lys885Ter)
|
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2662A>T (p.Lys888Ter)
|
rs1572728039
|
|
NM_000179.3(MSH6):c.2662_2663del (p.Lys888fs)
|
rs1669493890
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2668del (p.Val890fs)
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)
|
rs878853718
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2693del (p.Pro898fs)
|
rs1553414022
|
|
NM_000179.3(MSH6):c.2701dup (p.Arg901fs)
|
rs2104419943
|
|
NM_000179.3(MSH6):c.2714del (p.Asp904_Leu905insTer)
|
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2728_2735del (p.Asn910fs)
|
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738del (p.Asp913fs)
|
|
|
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)
|
rs1553414092
|
|
NM_000179.3(MSH6):c.2748dup (p.Asp917Ter)
|
rs1553414102
|
|
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
|
rs1669506824
|
|
NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)
|
rs2104422674
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2759dup (p.Ala921fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)
|
rs1553414131
|
|
NM_000179.3(MSH6):c.2778_2784del (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2799dup (p.Asp934Ter)
|
rs2104424562
|
|
NM_000179.3(MSH6):c.2804_2805del (p.Asp934_Ser935insTer)
|
rs878853721
|
|
NM_000179.3(MSH6):c.2805_2806insTT (p.Asp936fs)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2806_2809del (p.Asp936fs)
|
|
|
NM_000179.3(MSH6):c.2830del (p.Asp943_Ile944insTer)
|
|
|
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2843_2846del (p.Glu948fs)
|
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845dup (p.Gln949fs)
|
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2857G>T (p.Glu953Ter)
|
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
NM_000179.3(MSH6):c.2866_2869del (p.Glu956fs)
|
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)
|
|
|
NM_000179.3(MSH6):c.2873del (p.Gln958fs)
|
rs1572729033
|
|
NM_000179.3(MSH6):c.2883_2886dup (p.Gly963fs)
|
|
|
NM_000179.3(MSH6):c.2892dup (p.Arg965Ter)
|
|
|
NM_000179.3(MSH6):c.2897_2898dup (p.Ile967fs)
|
rs2104429347
|
|
NM_000179.3(MSH6):c.2900_2901del (p.Ile967fs)
|
|
|
NM_000179.3(MSH6):c.2902dup (p.Val968fs)
|
rs1572729161
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2913dup (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2916del (p.Ile972fs)
|
rs2104430494
|
|
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
|
|
|
NM_000179.3(MSH6):c.2920del (p.Arg974fs)
|
rs1558667222
|
|
NM_000179.3(MSH6):c.292_301del (p.Ala98fs)
|
rs1572708580
|
|
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2938del (p.Glu980fs)
|
rs2104431813
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
|
rs1669532554
|
|
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)
|
rs774755404
|
|
NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)
|
rs367758473
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2991del (p.Lys997fs)
|
rs1060502890
|
|
NM_000179.3(MSH6):c.3002del (p.Lys1001fs)
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)
|
rs587779253
|
|
NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)
|
rs587782862
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
|
|
|
NM_000179.3(MSH6):c.3051_3052insA (p.Leu1018fs)
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)
|
rs1114167724
|
|
NM_000179.3(MSH6):c.3064del (p.Glu1022fs)
|
rs2104438511
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3078dup (p.Val1027fs)
|
rs1572730002
|
|
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3089_3092del (p.Lys1030fs)
|
rs1553414488
|
|
NM_000179.3(MSH6):c.3091dup (p.Asp1031fs)
|
rs1572730065
|
|
NM_000179.3(MSH6):c.3097_3100del (p.Met1033fs)
|
rs1553414498
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3109_3112del (p.Phe1037fs)
|
rs1558668156
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3121_3133del (p.Asp1041fs)
|
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3137_3138del (p.Asp1046fs)
|
rs1558668258
|
|
NM_000179.3(MSH6):c.3139del (p.Trp1047fs)
|
rs1114167782
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3149del (p.Ala1050fs)
|
rs1060502882
|
|
NM_000179.3(MSH6):c.314G>A (p.Trp105Ter)
|
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3159T>A (p.Cys1053Ter)
|
rs767021188
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+2T>G
|
rs1299958102
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-14_3173-3del
|
rs1553331228
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3179del (p.Leu1060fs)
|
|
|
NM_000179.3(MSH6):c.317G>A (p.Trp106Ter)
|
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3190del (p.Ala1064fs)
|
rs2104472117
|
|
NM_000179.3(MSH6):c.3194_3197del (p.Asn1065fs)
|
rs2104472237
|
|
NM_000179.3(MSH6):c.3198T>A (p.Tyr1066Ter)
|
rs199643502
|
|
NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)
|
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3209del (p.Gly1070fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209dup (p.Gly1070_Asp1071insTer)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3218dup (p.Met1074fs)
|
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs)
|
rs1572735072
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3226dup (p.Arg1076fs)
|
rs1553331304
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3238del (p.Leu1080fs)
|
rs1553331337
|
|
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)
|
rs763844573
|
|
NM_000179.3(MSH6):c.3247del (p.Glu1083fs)
|
|
|
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)
|
rs1553331366
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs)
|
rs1669747095
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263del (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3266_3273dup (p.Lys1092Ter)
|
rs2104476971
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3276dup (p.Gly1093fs)
|
rs1558387361
|
|
NM_000179.3(MSH6):c.3281dup (p.Arg1095fs)
|
rs1553331454
|
|
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
|
|
|
NM_000179.3(MSH6):c.3301_3302del (p.Lys1101fs)
|
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3329del (p.Pro1110fs)
|
|
|
NM_000179.3(MSH6):c.3330_3331insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGTCGGGGGGGCTGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTGGAGATGATTTTATTCCT (p.Asn1111delinsPhePhePhePhePhePheXaaXaaXaaXaaProValGlyGlyAlaGlyLeuAlaGluGlyLeuLeuThrSerGlnTer)
|
rs2104479515
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.3337del (p.Ile1113fs)
|
rs2104480974
|
|
NM_000179.3(MSH6):c.3338_3342dup (p.Ile1115delinsPheTer)
|
rs1669760609
|
|
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)
|
rs786202772
|
|
NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)
|
rs587779260
|
|
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3367del (p.Glu1123fs)
|
rs2104482609
|
|
NM_000179.3(MSH6):c.3371del (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3377_3378del (p.Lys1126fs)
|
rs1553331665
|
|
NM_000179.3(MSH6):c.3378dup (p.Ala1127fs)
|
rs1553331665
|
|
NM_000179.3(MSH6):c.3381_3382insATTTCCTTGT (p.Tyr1128fs)
|
|
|
NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)
|
rs1572735943
|
|
NM_000179.3(MSH6):c.3393del (p.Val1132fs)
|
rs2104484216
|
|
NM_000179.3(MSH6):c.3398del (p.Thr1133fs)
|
rs1553331722
|
|
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
|
rs1669770252
|
|
NM_000179.3(MSH6):c.3401dup (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)
|
rs1572736122
|
|
NM_000179.3(MSH6):c.3419dup (p.Ser1141fs)
|
rs1572736128
|
|
NM_000179.3(MSH6):c.3424del (p.Thr1142fs)
|
rs2104486214
|
|
NM_000179.3(MSH6):c.3435del (p.Arg1145fs)
|
rs863224476
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2A>T
|
rs267608098
|
|
NM_000179.3(MSH6):c.3443del (p.Gly1148fs)
|
rs1553332151
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3450dup (p.Ala1151fs)
|
rs2104504315
|
|
NM_000179.3(MSH6):c.3458_3459insTA (p.Met1153fs)
|
|
|
NM_000179.3(MSH6):c.345del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs)
|
rs2104504931
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs)
|
rs1572738533
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3491_3492insA (p.Cys1165fs)
|
rs2104506737
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3498del (p.Arg1166fs)
|
|
|
NM_000179.3(MSH6):c.3506_3524del (p.Pro1169fs)
|
rs2104507417
|
|
NM_000179.3(MSH6):c.3508_3509del (p.Pro1169_Ile1170insTer)
|
rs2104507605
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
NM_000179.3(MSH6):c.350del (p.Gly117fs)
|
|
|
NM_000179.3(MSH6):c.3510_3511insTAA (p.Asp1171Ter)
|
rs1669874125
|
|
NM_000179.3(MSH6):c.3510_3513del (p.Asp1171fs)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3514_3515insT (p.Arg1172fs)
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3518dup (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3520_3521insGTAA (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3522_3523insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGATAGAGTGTTT (p.Thr1175delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3524_3525del (p.Thr1175fs)
|
rs2104508780
|
|
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)
|
rs786203968
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3531_3538del (p.Gly1178fs)
|
rs2104509127
|
|
NM_000179.3(MSH6):c.3533del (p.Gly1178fs)
|
rs2104509253
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
|
|
|
NM_000179.3(MSH6):c.354_355del (p.Phe119fs)
|
rs1668692410
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)
|
rs1553332312
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>C
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3556+2T>C
|
rs1669882321
|
|
NM_000179.3(MSH6):c.3556+2_3556+3insTT
|
rs1572739097
|
|
NM_000179.3(MSH6):c.3556+4_3556+8del
|
rs1572739119
|
|
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)
|
rs891318615
|
|
NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)
|
rs786203331
|
|
NM_000179.3(MSH6):c.3562del (p.Ser1188fs)
|
rs1553332622
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577_3580dup (p.Leu1194Ter)
|
rs773262801
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3577del (p.Glu1193fs)
|
rs1114167755
|
|
NM_000179.3(MSH6):c.3582_3585dup (p.Glu1196delinsLysTer)
|
|
|
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3600dup (p.Leu1201fs)
|
rs2104524165
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3609del (p.His1203fs)
|
rs2104524646
|
|
NM_000179.3(MSH6):c.3611del (p.Ala1204fs)
|
rs2104524766
|
|
NM_000179.3(MSH6):c.3611dup (p.Thr1205fs)
|
|
|
NM_000179.3(MSH6):c.3615dup (p.Ala1206fs)
|
rs2104525000
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
|
rs1553332733
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3634_3644del (p.Val1212fs)
|
rs2104525933
|
|
NM_000179.3(MSH6):c.3642dup (p.Leu1215fs)
|
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3649_3655del (p.Arg1217fs)
|
rs2104536532
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3653dup (p.Thr1219fs)
|
rs2104536807
|
|
NM_000179.3(MSH6):c.3654_3657del (p.Thr1219fs)
|
|
|
NM_000179.3(MSH6):c.3655_3658delinsCC (p.Thr1219fs)
|
rs1670040394
|
|
NM_000179.3(MSH6):c.3672del (p.Thr1225fs)
|
rs2104537929
|
|
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)
|
rs1553332996
|
|
NM_000179.3(MSH6):c.3683del (p.Ala1228fs)
|
|
|
NM_000179.3(MSH6):c.3690del (p.Val1231fs)
|
rs730881829
|
|
NM_000179.3(MSH6):c.3693_3694insTA (p.Val1232Ter)
|
rs1670044220
|
|
NM_000179.3(MSH6):c.3693_3696del (p.Val1232fs)
|
|
|
NM_000179.3(MSH6):c.3694_3697dup (p.Lys1233delinsSerTer)
|
rs2104539547
|
|
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)
|
rs1553333017
|
|
NM_000179.3(MSH6):c.3698_3699dup (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.3699dup (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.36_69del (p.Lys13fs)
|
rs2103932373
|
|
NM_000179.3(MSH6):c.3709_3712dup (p.Thr1238fs)
|
rs2104540758
|
|
NM_000179.3(MSH6):c.3711_3712del (p.Glu1237fs)
|
rs2104540758
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)
|
rs878853736
|
|
NM_000179.3(MSH6):c.3717_3733del (p.Lys1240fs)
|
|
|
NM_000179.3(MSH6):c.3720_3721del (p.Cys1241fs)
|
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3728_3732dup (p.Phe1245fs)
|
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3731T>G (p.Leu1244Ter)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)
|
rs1558392228
|
|
NM_000179.3(MSH6):c.3736_3760dup (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3737C>G (p.Ser1246Ter)
|
|
|
NM_000179.3(MSH6):c.3739_3743dup (p.His1248fs)
|
rs2104542786
|
|
NM_000179.3(MSH6):c.3739del (p.Thr1247fs)
|
rs2104542920
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3744_3753dup (p.Val1253fs)
|
rs1553333078
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3749_3764del (p.His1250fs)
|
|
|
NM_000179.3(MSH6):c.374_382delinsT (p.Lys125fs)
|
rs1553410300
|
|
NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)
|
|
|
NM_000179.3(MSH6):c.3752_3770dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3755del (p.Ser1251_Leu1252insTer)
|
|
|
NM_000179.3(MSH6):c.3761_3764dup (p.Asp1255fs)
|
rs1572745084
|
|
NM_000179.3(MSH6):c.3766del (p.Tyr1256fs)
|
rs1553333127
|
|
NM_000179.3(MSH6):c.3766dup (p.Tyr1256fs)
|
rs1553333127
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.376del (p.Ser126fs)
|
|
|
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)
|
rs63750554
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
|
|
|
NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3783del (p.Val1262fs)
|
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
NM_000179.3(MSH6):c.3792dup (p.Gly1265fs)
|
|
|
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3798_3801dup (p.Ala1268fs)
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3807C>A (p.Cys1269Ter)
|
rs747924946
|
|
NM_000179.3(MSH6):c.3808_3824dup (p.Cys1275Ter)
|
rs1558393006
|
|
NM_000179.3(MSH6):c.3809_3812dup (p.Glu1272fs)
|
rs1553333301
|
|
NM_000179.3(MSH6):c.3811_3824del (p.Met1270_Val1271insTer)
|
rs1558393006
|
|
NM_000179.3(MSH6):c.3813dup (p.Glu1272fs)
|
rs1553333310
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3815_3816insT (p.Glu1272fs)
|
rs2104552191
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3819_3820del (p.Asn1273fs)
|
|
|
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000179.3(MSH6):c.3827_3830dup (p.Asp1277fs)
|
rs1060502903
|
|
NM_000179.3(MSH6):c.3830_3833del (p.Asp1277fs)
|
rs1572746365
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)
|
rs1572746488
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3842_3873dup (p.Gly1292fs)
|
|
|
NM_000179.3(MSH6):c.3843_3847dup (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3844dup (p.Thr1282fs)
|
|
|
NM_000179.3(MSH6):c.3845del (p.Thr1282fs)
|
rs2104554610
|
|
NM_000179.3(MSH6):c.3846_3849dup (p.Thr1284fs)
|
rs1114167783
|
|
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs)
|
rs866771359
|
|
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3850_3851dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850_3857dup (p.Tyr1287fs)
|
rs1553333432
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851_3852insA (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3851_3860del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3851del (p.Thr1284fs)
|
rs2104555433
|
|
NM_000179.3(MSH6):c.3851delinsTTAAT (p.Thr1284fs)
|
rs1553333438
|
|
NM_000179.3(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer)
|
rs1553333449
|
|
NM_000179.3(MSH6):c.3855_3859dup (p.Tyr1287fs)
|
|
|
NM_000179.3(MSH6):c.3856_3859del (p.Leu1286fs)
|
rs2104555974
|
|
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)
|
rs1060504739
|
|
NM_000179.3(MSH6):c.3862_3865dup (p.Phe1289Ter)
|
rs2104556348
|
|
NM_000179.3(MSH6):c.3863_3865dup (p.Phe1289Ter)
|
rs1670108675
|
|
NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs)
|
rs863225416
|
|
NM_000179.3(MSH6):c.3864dup (p.Phe1289fs)
|
rs878853739
|
|
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)
|
|
|
NM_000179.3(MSH6):c.3873_3888dup (p.Ser1297delinsGlySerLeuSerTer)
|
rs2104557357
|
|
NM_000179.3(MSH6):c.3874_3902dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)
|
rs1553333497
|
|
NM_000179.3(MSH6):c.3881_3900dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3882T>A (p.Cys1294Ter)
|
rs1060504744
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3886_3917dup (p.Asn1307fs)
|
rs2104558402
|
|
NM_000179.3(MSH6):c.3893dup (p.Tyr1298Ter)
|
rs1553333530
|
|
NM_000179.3(MSH6):c.3895_3935dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.3902dup (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3910dup (p.Arg1304fs)
|
rs1670119651
|
|
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
|
rs1670120965
|
|
NM_000179.3(MSH6):c.3916_3973dup (p.Lys1325delinsSerTer)
|
rs2104560664
|
|
NM_000179.3(MSH6):c.3920_3921dup (p.Leu1308fs)
|
rs2104561128
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3920del (p.Asn1307fs)
|
rs1114167760
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
|
|
|
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)
|
rs1553333615
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
NM_000179.3(MSH6):c.3930_3978dup (p.Asn1327delinsGlySerTyrSerLysGlyThrTer)
|
rs1558394104
|
|
NM_000179.3(MSH6):c.3931del (p.Glu1311fs)
|
rs1558394093
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3935_3954dup (p.Lys1319fs)
|
rs1553333644
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3946_3958dup (p.Ala1320delinsGlyThrTer)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3949_3970dup (p.Glu1324delinsAlaTer)
|
rs2104564057
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3952_3977dup (p.Met1326fs)
|
rs2104564233
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957del (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)
|
rs1553333700
|
|
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
|
rs1670140478
|
|
NM_000179.3(MSH6):c.3962_3966dup (p.Phe1323fs)
|
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3964_3980dup (p.Asn1327delinsLysAsnLeuArgArgTer)
|
rs2104565388
|
|
NM_000179.3(MSH6):c.3966_3987dup (p.Leu1330delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)
|
rs587779299
|
|
NM_000179.3(MSH6):c.3972_3979del (p.Lys1325fs)
|
rs1572747837
|
|
NM_000179.3(MSH6):c.3973A>T (p.Lys1325Ter)
|
rs1060502937
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.3996_4000dup (p.Arg1334fs)
|
rs587779301
|
|
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)
|
rs863225418
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.427dup (p.Val143fs)
|
rs2104110751
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.463A>T (p.Lys155Ter)
|
rs1276159036
|
|
NM_000179.3(MSH6):c.465dup (p.Ser156fs)
|
|
|
NM_000179.3(MSH6):c.467C>A (p.Ser156Ter)
|
rs63749873
|
|
NM_000179.3(MSH6):c.468_471del (p.Glu158fs)
|
rs587779941
|
|
NM_000179.3(MSH6):c.470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.472dup (p.Glu158fs)
|
|
|
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
NM_000179.3(MSH6):c.485del (p.Gly162fs)
|
rs2104229850
|
|
NM_000179.3(MSH6):c.496del (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.498C>G (p.Tyr166Ter)
|
rs587779313
|
|
NM_000179.3(MSH6):c.510dup (p.Glu171Ter)
|
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000179.3(MSH6):c.524del (p.Ala175fs)
|
rs1669058948
|
|
NM_000179.3(MSH6):c.529C>T (p.Gln177Ter)
|
rs2104233399
|
|
NM_000179.3(MSH6):c.529dup (p.Gln177fs)
|
rs1669059418
|
|
NM_000179.3(MSH6):c.533dup (p.Ala179fs)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.564dup (p.Lys189Ter)
|
rs1572716371
|
|
NM_000179.3(MSH6):c.565A>T (p.Lys189Ter)
|
rs786203597
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.586del (p.Cys196fs)
|
rs2104238107
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer)
|
rs1553412064
|
|
NM_000179.3(MSH6):c.644_645insCT (p.Val215_Thr216insTer)
|
|
|
NM_000179.3(MSH6):c.644dup (p.Thr216fs)
|
rs1572719776
|
|
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
|
rs1669240720
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
|
|
|
NM_000179.3(MSH6):c.675dup (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.679_680del (p.Glu226_Ser227insTer)
|
|
|
NM_000179.3(MSH6):c.688del (p.Glu230fs)
|
rs1669245178
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.694_700del (p.Gln232fs)
|
rs1572719974
|
|
NM_000179.3(MSH6):c.697_698del (p.Gln232_Pro233insTer)
|
rs1572720016
|
|
NM_000179.3(MSH6):c.698_713del (p.Pro233fs)
|
rs1558658971
|
|
NM_000179.3(MSH6):c.6_7delinsCT (p.Arg3Ter)
|
rs1558644683
|
|
NM_000179.3(MSH6):c.703_709del (p.Thr235fs)
|
rs1558658980
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.717dup (p.Arg240fs)
|
rs2104293218
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.723dup (p.Ser242Ter)
|
rs1558659056
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.736A>T (p.Lys246Ter)
|
rs1572720148
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
NM_000179.3(MSH6):c.753dup (p.Ser252fs)
|
|
|
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
|
rs1669252923
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.770dup (p.Asp257fs)
|
rs2104296608
|
|
NM_000179.3(MSH6):c.783del (p.Asp262fs)
|
rs2104297531
|
|
NM_000179.3(MSH6):c.79del (p.Ala27fs)
|
rs1553408158
|
|
NM_000179.3(MSH6):c.7C>T (p.Arg3Ter)
|
|
|
NM_000179.3(MSH6):c.809del (p.Lys270fs)
|
rs1114167696
|
|
NM_000179.3(MSH6):c.829del (p.Glu277fs)
|
|
|
NM_000179.3(MSH6):c.832dup (p.Ile278fs)
|
rs2104300142
|
|
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
NM_000179.3(MSH6):c.84_85del (p.Glu30fs)
|
rs1558644886
|
|
NM_000179.3(MSH6):c.850_851insC (p.Asp284fs)
|
rs1572720562
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000179.3(MSH6):c.851del (p.Asp284fs)
|
rs2104301665
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.859_860del (p.Glu286_Ser287insTer)
|
|
|
NM_000179.3(MSH6):c.873_874del (p.Asn291fs)
|
rs1060502888
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
NM_000179.3(MSH6):c.896del (p.Lys299fs)
|
rs1060502941
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.906_907del (p.Arg302fs)
|
rs1558659699
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.928_929del (p.Ser309_Leu310insTer)
|
rs2104306720
|
|
NM_000179.3(MSH6):c.92del (p.Gly31fs)
|
rs2103935655
|
|
NM_000179.3(MSH6):c.931_932insT (p.Lys311fs)
|
|
|
NM_000179.3(MSH6):c.940del (p.Ser314fs)
|
rs2104307566
|
|
NM_000179.3(MSH6):c.945dup (p.Arg316Ter)
|
rs2104308103
|
|
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.973C>T (p.Gln325Ter)
|
rs1553412397
|
|
NM_000179.3(MSH6):c.979del (p.Thr327fs)
|
rs1032784747
|
|
NM_000179.3(MSH6):c.97del (p.Arg33fs)
|
rs1668118988
|
|
NM_000179.3(MSH6):c.981dup (p.Ser328Ter)
|
|
|
NM_000179.3(MSH6):c.988dup (p.Ser330fs)
|
rs1553412409
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
NM_000179.3(MSH6):c.999del (p.Lys334fs)
|
rs1060502932
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
NM_000249.4(MLH1):c.-7_1del (p.Met1fs)
|
rs2125693198
|
|
NM_000249.4(MLH1):c.100_103del (p.Lys33_Glu34insTer)
|
|
|
NM_000249.4(MLH1):c.1011_1014delinsAATGTGCA (p.Asn338fs)
|
rs1553648195
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1017del (p.Ser340fs)
|
rs63750339
|
|
NM_000249.4(MLH1):c.101_104del (p.Glu34fs)
|
rs2125694695
|
|
NM_000249.4(MLH1):c.1021_1022insCCCT (p.Arg341fs)
|
rs2082994980
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1029C>A (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1030_1031insGGGT (p.Phe344fs)
|
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>C
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-2A>C
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
NM_000249.4(MLH1):c.1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)
|
rs1559551570
|
|
NM_000249.4(MLH1):c.1047dup (p.Pro350fs)
|
rs1060500707
|
|
NM_000249.4(MLH1):c.104_105insAA (p.Met35fs)
|
rs587778882
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1059del (p.Gly354fs)
|
|
|
NM_000249.4(MLH1):c.1072_1078del (p.Glu358fs)
|
rs1060500692
|
|
NM_000249.4(MLH1):c.1084del (p.Ser362fs)
|
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.111del (p.Asn38fs)
|
rs2080909702
|
|
NM_000249.4(MLH1):c.1129A>T (p.Lys377Ter)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1132del (p.Val378fs)
|
rs2083403132
|
|
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)
|
rs587778888
|
|
NM_000249.4(MLH1):c.1144del (p.Gln382fs)
|
rs2083405700
|
|
NM_000249.4(MLH1):c.1149_1161del (p.Met383fs)
|
rs2125882042
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+1G>T
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1162del (p.Ser388fs)
|
|
|
NM_000249.4(MLH1):c.1163_1164insGAAT (p.Arg389fs)
|
|
|
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
|
rs2083411159
|
|
NM_000249.4(MLH1):c.117-1G>A
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
NM_000249.4(MLH1):c.117-2A>T
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
|
rs2083412120
|
|
NM_000249.4(MLH1):c.1183dup (p.Ala395fs)
|
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.1193del (p.Gln398fs)
|
rs2083416349
|
|
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
|
|
|
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)
|
rs587778896
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.121G>C (p.Asp41His)
|
rs267607713
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
NM_000249.4(MLH1):c.1225_1259del (p.Pro408_Gln409insTer)
|
|
|
NM_000249.4(MLH1):c.1228del (p.Ala410fs)
|
|
|
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)
|
rs63751094
|
|
NM_000249.4(MLH1):c.122A>T (p.Asp41Val)
|
rs63751094
|
|
NM_000249.4(MLH1):c.1233del (p.Ile411fs)
|
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs)
|
rs63751118
|
|
NM_000249.4(MLH1):c.125dup (p.Ser44fs)
|
|
|
NM_000249.4(MLH1):c.1261delinsTAT (p.Ser421fs)
|
rs1553651130
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)
|
rs1559553501
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.129dup (p.Ser44fs)
|
rs63750867
|
|
NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)
|
rs1302248679
|
|
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe)
|
rs2125710774
|
|
NM_000249.4(MLH1):c.132del (p.Thr45fs)
|
rs2081162085
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)
|
rs1114167435
|
|
NM_000249.4(MLH1):c.1336_1337dup (p.Ser446fs)
|
|
|
NM_000249.4(MLH1):c.1343del (p.Glu448fs)
|
rs63749981
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1369_1370insGGAGCGGAGCAGAGCCGAGGTCGGGCCGCGAGCGGAGCCGGCTGAGCGGGCGCCGAGCTCCCGCCATGGCCCGGAACACGCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAAGGGGACTTCAG (p.Glu457fs)
|
rs2125886028
|
|
NM_000249.4(MLH1):c.1373dup (p.Met458fs)
|
rs2083453557
|
|
NM_000249.4(MLH1):c.1376C>G (p.Ser459Ter)
|
rs2083454135
|
|
NM_000249.4(MLH1):c.1377del (p.Glu460fs)
|
rs587778908
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1382_1386del (p.Lys461fs)
|
rs1064794612
|
|
NM_000249.4(MLH1):c.1398del (p.Ser467fs)
|
rs63750713
|
|
NM_000249.4(MLH1):c.1400del (p.Ser467fs)
|
rs1064795515
|
|
NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)
|
rs2125887070
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+2T>C
|
rs587778911
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1416dup (p.His473fs)
|
rs1553652883
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1435_1453del (p.Val479fs)
|
rs2125901597
|
|
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)
|
rs587778914
|
|
NM_000249.4(MLH1):c.1441del (p.Met481fs)
|
rs878853777
|
|
NM_000249.4(MLH1):c.1447del (p.Glu483fs)
|
rs1553652930
|
|
NM_000249.4(MLH1):c.1456dup (p.Ser486fs)
|
rs878853778
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1478del (p.Ala493fs)
|
rs2083706682
|
|
NM_000249.4(MLH1):c.1482T>A (p.Cys494Ter)
|
rs1575552976
|
|
NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs)
|
rs1553653037
|
|
NM_000249.4(MLH1):c.1489del (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1491dup (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1499_1512del (p.Ile500fs)
|
rs2125902746
|
|
NM_000249.4(MLH1):c.1499del (p.Ile500fs)
|
rs2125902731
|
|
NM_000249.4(MLH1):c.1507del (p.Leu503fs)
|
rs2125902896
|
|
NM_000249.4(MLH1):c.1520dup (p.Leu507fs)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs)
|
rs876658821
|
|
NM_000249.4(MLH1):c.1526del (p.Leu509fs)
|
rs1553653158
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)
|
rs63751472
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>C
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1568dup (p.Met524fs)
|
rs2084634023
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1591del (p.Val531fs)
|
rs1553658009
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)
|
rs587778933
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1630C>T (p.Gln544Ter)
|
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1637_1641dup (p.Tyr548fs)
|
rs1064794267
|
|
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1658_1661del (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-1G>T
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-2A>G
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)
|
rs63751244
|
|
NM_000249.4(MLH1):c.1669dup (p.Glu557fs)
|
|
|
NM_000249.4(MLH1):c.1676del (p.Leu559fs)
|
rs2084804331
|
|
NM_000249.4(MLH1):c.1681_1686del (p.Tyr561_Gln562del)
|
rs2084805279
|
|
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)
|
rs1553659377
|
|
NM_000249.4(MLH1):c.168_169insCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGGAGGCCTG (p.Lys57delinsProValValProAlaThrArgGluAlaGluAlaGlyGluTrpArgGluProGlyArgArgSerLeuGlnTer)
|
rs2125711087
|
|
NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs)
|
rs267607849
|
|
NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter)
|
rs876658915
|
|
NM_000249.4(MLH1):c.1707del (p.Asn570fs)
|
rs2125957824
|
|
NM_000249.4(MLH1):c.1709del (p.Asn570fs)
|
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1723dup (p.Arg575fs)
|
rs2125958173
|
|
NM_000249.4(MLH1):c.1727T>G (p.Leu576Ter)
|
rs2125958240
|
|
NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)
|
rs56185292
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2T>G
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1732-2A>C
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
NM_000249.4(MLH1):c.1737del (p.Ala580fs)
|
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs)
|
rs1575620443
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
NM_000249.4(MLH1):c.1746_1747del (p.Leu582_Phe583insTer)
|
rs2125984234
|
|
NM_000249.4(MLH1):c.1746del (p.Phe583fs)
|
rs876659068
|
|
NM_000249.4(MLH1):c.1752_1772del (p.Leu585_Asp591del)
|
|
|
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1762_1768dup (p.Leu590fs)
|
rs2125984506
|
|
NM_000249.4(MLH1):c.1765_1769del (p.Ala589fs)
|
|
|
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter)
|
rs1553662753
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs)
|
rs1553662800
|
|
NM_000249.4(MLH1):c.178C>T (p.Gln60Ter)
|
rs2081170615
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1809del (p.Glu605fs)
|
rs2125985001
|
|
NM_000249.4(MLH1):c.1818delinsCTT (p.Leu607fs)
|
rs1575621386
|
|
NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs)
|
rs1575621506
|
|
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)
|
rs2125985283
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1837_1840del (p.Glu613fs)
|
|
|
NM_000249.4(MLH1):c.1840_1870dup (p.Asp624delinsValSerGluGluGluGlyTer)
|
rs2085310643
|
|
NM_000249.4(MLH1):c.1846A>T (p.Lys616Ter)
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1853dup (p.Ala619fs)
|
rs1060500687
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1877del (p.Phe626fs)
|
rs63750152
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
|
|
|
NM_000249.4(MLH1):c.1888del (p.Ile630fs)
|
rs2125986083
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.1902del (p.Asn635fs)
|
rs587778956
|
|
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)
|
rs1553663750
|
|
NM_000249.4(MLH1):c.1912G>T (p.Gly638Ter)
|
rs63750549
|
|
NM_000249.4(MLH1):c.1916T>A (p.Leu639Ter)
|
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1921del (p.Leu641fs)
|
|
|
NM_000249.4(MLH1):c.1921dup (p.Leu641fs)
|
rs2125990255
|
|
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
|
rs2085415927
|
|
NM_000249.4(MLH1):c.1938T>A (p.Tyr646Ter)
|
|
|
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)
|
rs1064794331
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.194_195insAT (p.Thr66fs)
|
rs2125711634
|
|
NM_000249.4(MLH1):c.194_201del (p.Gly65fs)
|
rs2125711616
|
|
NM_000249.4(MLH1):c.1956_1957del (p.Leu653fs)
|
rs1553663981
|
|
NM_000249.4(MLH1):c.1956del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.195_200del (p.Thr66_Gly67del)
|
rs1575395515
|
|
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)
|
rs1553638868
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
|
rs2085425585
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1975dup (p.Arg659fs)
|
|
|
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1983dup (p.Thr662fs)
|
rs2125991131
|
|
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly)
|
rs63751682
|
|
NM_000249.4(MLH1):c.1989+1del
|
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1990-1G>A
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>C
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>T
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-2A>C
|
rs267607883
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)
|
rs886039424
|
|
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)
|
rs63750639
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.19del (p.Val7fs)
|
rs2080886738
|
|
NM_000249.4(MLH1):c.1A>G (p.Met1Val)
|
rs587778967
|
|
NM_000249.4(MLH1):c.2009dup (p.Glu671fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2019dup (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.201dup (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2028del (p.Ser677fs)
|
rs2125993386
|
|
NM_000249.4(MLH1):c.2030dup (p.Ser677fs)
|
rs2085469647
|
|
NM_000249.4(MLH1):c.2031_2041del (p.Lys678fs)
|
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2039_2040delinsAG (p.Cys680Ter)
|
rs2125993577
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2042del (p.Ala681fs)
|
|
|
NM_000249.4(MLH1):c.2043dup (p.Met682fs)
|
rs2125993690
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2046_2052del (p.Met682fs)
|
rs2125993656
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
NM_000249.4(MLH1):c.207+2T>G
|
rs267607722
|
|
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.208-1G>A
|
rs267607717
|
|
NM_000249.4(MLH1):c.208-1_208del
|
rs587778973
|
|
NM_000249.4(MLH1):c.208-2A>C
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2089dup (p.Leu697fs)
|
rs1064793177
|
|
NM_000249.4(MLH1):c.2091_2093delinsT (p.Ser698fs)
|
|
|
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)
|
rs63750859
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)
|
rs1553664702
|
|
NM_000249.4(MLH1):c.2099del (p.Gln700fs)
|
rs2148512263
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2102A>G (p.Gln701Arg)
|
rs2148512343
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>C
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+2T>G
|
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2108_2117del (p.Glu703fs)
|
rs2148521826
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2123_2126del (p.Ile708fs)
|
rs2148522316
|
|
NM_000249.4(MLH1):c.2129dup (p.Asn710fs)
|
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136del (p.Ser711_Trp712insTer)
|
rs1060500706
|
|
NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)
|
rs2148522723
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2157dup (p.Val720fs)
|
rs587778984
|
|
NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)
|
rs1553665683
|
|
NM_000249.4(MLH1):c.2163del (p.Val720_Tyr721insTer)
|
rs2148523658
|
|
NM_000249.4(MLH1):c.2166dup (p.Ala723fs)
|
|
|
NM_000249.4(MLH1):c.2174_2177dup (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2177C>A (p.Ser726Ter)
|
|
|
NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)
|
rs864622457
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.217del (p.Leu73fs)
|
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195_2196del (p.Lys732fs)
|
rs2148524462
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2196dup (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2198_2199del (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)
|
rs1553665866
|
|
NM_000249.4(MLH1):c.2215_2218dup (p.Ile740fs)
|
rs1575640892
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
NM_000249.4(MLH1):c.2219del (p.Ile740fs)
|
rs1575640960
|
|
NM_000249.4(MLH1):c.2221del (p.Leu741fs)
|
|
|
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)
|
rs587778992
|
|
NM_000249.4(MLH1):c.2236dup (p.Leu746fs)
|
rs1553665977
|
|
NM_000249.4(MLH1):c.2245_2246del (p.Leu749fs)
|
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2249dup (p.Tyr750Ter)
|
rs878853787
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2253del (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2259del (p.Phe753fs)
|
rs1060500698
|
|
NM_000249.4(MLH1):c.2263_2264del (p.Arg755fs)
|
rs1559597322
|
|
NM_000249.4(MLH1):c.2265G>T (p.Arg755Ser)
|
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
NM_000249.4(MLH1):c.227dup (p.Cys77fs)
|
rs2125735738
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
NM_000249.4(MLH1):c.22_32dup (p.Asp12fs)
|
rs2125693589
|
|
NM_000249.4(MLH1):c.22del (p.Ile8fs)
|
rs2125693612
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.232_243delinsATGTAAGG (p.Glu78_Thr81delinsMetTer)
|
rs1575414321
|
|
NM_000249.4(MLH1):c.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.258del (p.Gln86fs)
|
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.268del (p.Asp90fs)
|
rs1060500688
|
|
NM_000249.4(MLH1):c.272T>G (p.Leu91Ter)
|
rs63751137
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter)
|
rs1575414904
|
|
NM_000249.4(MLH1):c.299dup (p.Gly101fs)
|
|
|
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)
|
rs111052004
|
|
NM_000249.4(MLH1):c.306+1222A>G
|
|
|
NM_000249.4(MLH1):c.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+1G>C
|
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307-2A>C
|
rs267607732
|
|
NM_000249.4(MLH1):c.307-2A>G
|
rs267607732
|
|
NM_000249.4(MLH1):c.30del (p.Leu11fs)
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>A (p.Ile107Lys)
|
rs63750507
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.35del (p.Asp12fs)
|
rs2125693787
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)
|
rs63751606
|
|
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>C
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>C (p.Arg127Thr)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
NM_000249.4(MLH1):c.381-1G>A
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-1G>T
|
|
|
NM_000249.4(MLH1):c.381-2A>G
|
rs267607743
|
|
NM_000249.4(MLH1):c.381-2A>T
|
rs267607743
|
|
NM_000249.4(MLH1):c.382del (p.Ala128fs)
|
rs63750865
|
|
NM_000249.4(MLH1):c.383del (p.Ala128fs)
|
rs2125772569
|
|
NM_000249.4(MLH1):c.389del (p.Tyr130fs)
|
rs587779012
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.38dup (p.Thr14fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
|
rs1060500689
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.404dup (p.Lys136fs)
|
rs1553642079
|
|
NM_000249.4(MLH1):c.406A>T (p.Lys136Ter)
|
rs1575440595
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.424_446del (p.Cys142fs)
|
|
|
NM_000249.4(MLH1):c.428dup (p.Gly144fs)
|
rs63751045
|
|
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)
|
rs63749820
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-2A>C
|
rs267607753
|
|
NM_000249.4(MLH1):c.454-2A>G
|
rs267607753
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.463_464insG (p.Leu155fs)
|
rs2125783563
|
|
NM_000249.4(MLH1):c.463del (p.Leu155fs)
|
rs2082049708
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.471C>A (p.Tyr157Ter)
|
rs74396541
|
|
NM_000249.4(MLH1):c.474del (p.Asn158fs)
|
rs1559524070
|
|
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.509del (p.Ser170fs)
|
rs2082057042
|
|
NM_000249.4(MLH1):c.52_59del (p.Arg18fs)
|
rs2125694037
|
|
NM_000249.4(MLH1):c.52del (p.Arg18fs)
|
rs63749804
|
|
NM_000249.4(MLH1):c.531_532delinsAT (p.Glu178Ter)
|
rs63750903
|
|
NM_000249.4(MLH1):c.532G>T (p.Glu178Ter)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.534del (p.Val179fs)
|
|
|
NM_000249.4(MLH1):c.542del (p.Gly181fs)
|
rs1553642777
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+2T>C
|
rs1575449402
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.582del (p.Lys196fs)
|
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.588+1G>A
|
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+2T>A
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+2T>G
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)
|
rs2125808143
|
|
NM_000249.4(MLH1):c.592_598del (p.Gly198fs)
|
|
|
NM_000249.4(MLH1):c.61del (p.Ala21fs)
|
rs63750581
|
|
NM_000249.4(MLH1):c.626del (p.Asn209fs)
|
rs1559530646
|
|
NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer)
|
rs1575469070
|
|
NM_000249.4(MLH1):c.63_82del (p.Gly22fs)
|
rs1575376458
|
|
NM_000249.4(MLH1):c.654del (p.Ile219fs)
|
rs2125809242
|
|
NM_000249.4(MLH1):c.654dup (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+2T>C
|
rs1553644277
|
|
NM_000249.4(MLH1):c.677+2T>G
|
rs1553644277
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-20_693del
|
rs2082517369
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
NM_000249.4(MLH1):c.678-3T>A
|
rs267607785
|
|
NM_000249.4(MLH1):c.678-3_678-2del
|
rs267607783
|
|
NM_000249.4(MLH1):c.679_688dup (p.Glu230fs)
|
rs2125821720
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.67dup (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.688G>T (p.Glu230Ter)
|
rs1466223609
|
|
NM_000249.4(MLH1):c.68_72delinsCTA (p.Glu23fs)
|
rs2080898853
|
|
NM_000249.4(MLH1):c.691del (p.Ile231fs)
|
rs876658339
|
|
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg)
|
rs1553645131
|
|
NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)
|
rs764085979
|
|
NM_000249.4(MLH1):c.69del (p.Val24fs)
|
|
|
NM_000249.4(MLH1):c.706_725del (p.Lys236fs)
|
rs863224480
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.729_734del (p.Gly244_Tyr245del)
|
|
|
NM_000249.4(MLH1):c.72_82dup (p.Pro28fs)
|
rs2080899985
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731_734del (p.Gly244fs)
|
rs587779037
|
|
NM_000249.4(MLH1):c.735C>A (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.756dup (p.Val253fs)
|
rs2082532798
|
|
NM_000249.4(MLH1):c.760_761insTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGAAGTGCATCTTC (p.Lys254fs)
|
rs2125822944
|
|
NM_000249.4(MLH1):c.768C>A (p.Cys256Ter)
|
rs1575481212
|
|
NM_000249.4(MLH1):c.768del (p.Lys255_Cys256insTer)
|
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.770del (p.Ile257fs)
|
|
|
NM_000249.4(MLH1):c.776_777insTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGACGGGAGAGGGAGAGGGAGACGGGATAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGTGAGACGGGAGAGGGAGAGAAGTGCATCTTCTT (p.Leu259delinsPhePhePhePhePhePheXaaXaaXaaXaaGlyArgArgGluArgGluArgGluThrGlyTer)
|
rs2125822971
|
|
NM_000249.4(MLH1):c.77del (p.Gln26fs)
|
rs1575376830
|
|
NM_000249.4(MLH1):c.783del (p.Phe261fs)
|
rs2125823340
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>T
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+2T>A
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790del (p.His264fs)
|
rs2125823466
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-2A>T
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.796del (p.Leu266fs)
|
rs1553646602
|
|
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)
|
rs63750691
|
|
NM_000249.4(MLH1):c.813del (p.Ser271_Leu272insTer)
|
rs2125837018
|
|
NM_000249.4(MLH1):c.815T>A (p.Leu272Ter)
|
rs63750584
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.817A>T (p.Arg273Ter)
|
|
|
NM_000249.4(MLH1):c.825del (p.Ala275_Ile276insTer)
|
|
|
NM_000249.4(MLH1):c.826dup (p.Ile276fs)
|
rs878853792
|
|
NM_000249.4(MLH1):c.833_834dup (p.Val279fs)
|
rs1553646681
|
|
NM_000249.4(MLH1):c.837_838del (p.Tyr280fs)
|
rs2125837477
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.840_846delinsA (p.Tyr280_Ala282delinsTer)
|
|
|
NM_000249.4(MLH1):c.845_858del (p.Ala282fs)
|
rs1559539489
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.859_860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.863_870del (p.Thr288fs)
|
|
|
NM_000249.4(MLH1):c.866_867del (p.His289fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866_867dup (p.Pro290fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-1G>C
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.885-2A>T
|
rs267607805
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.905del (p.Asn302fs)
|
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000249.4(MLH1):c.912_923del (p.Val305_His308del)
|
rs1064792918
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.928del (p.Thr310fs)
|
rs587779055
|
|
NM_000249.4(MLH1):c.929_930del (p.Thr310fs)
|
rs2125852740
|
|
NM_000249.4(MLH1):c.932del (p.Lys311fs)
|
|
|
NM_000249.4(MLH1):c.939dup (p.Val314fs)
|
rs63751259
|
|
NM_000249.4(MLH1):c.940del (p.Val314fs)
|
rs1553648023
|
|
NM_000249.4(MLH1):c.94del (p.Ile32fs)
|
rs1064793607
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000249.4(MLH1):c.957_959delinsT (p.Glu319fs)
|
rs1559544064
|
|
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)
|
rs878853794
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.976dup (p.Val326fs)
|
|
|
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter)
|
rs587782087
|
|
NM_000249.4(MLH1):c.979dup (p.Gln327fs)
|
rs2125853842
|
|
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)
|
rs587779058
|
|
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
|
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
NM_000251.3(MSH2):c.1007dup (p.Gln337fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1008del (p.Gln337fs)
|
rs879253899
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1009dup (p.Gln337fs)
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)
|
rs63751147
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.102dup (p.Arg35fs)
|
rs1672241024
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)
|
rs63751027
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1043del (p.Gln348fs)
|
rs1114167809
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1058del (p.Lys353fs)
|
rs1573456772
|
|
NM_000251.3(MSH2):c.1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>C
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs)
|
rs1114167858
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)
|
rs63751617
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
|
|
NM_000251.3(MSH2):c.1102G>T (p.Glu368Ter)
|
rs1673931379
|
|
NM_000251.3(MSH2):c.1111G>T (p.Glu371Ter)
|
rs1060501994
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1126_1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1139T>A (p.Leu380Ter)
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1144del (p.Arg382fs)
|
rs1553356605
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1151dup (p.Asp386fs)
|
rs1573484655
|
|
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)
|
rs730881774
|
|
NM_000251.3(MSH2):c.115del (p.Arg39fs)
|
rs1553348794
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1165del (p.Arg389fs)
|
rs2104439370
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1186A>T (p.Arg396Ter)
|
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)
|
rs1558451119
|
|
NM_000251.3(MSH2):c.11dup (p.Pro5fs)
|
rs730881775
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)
|
rs1558478567
|
|
NM_000251.3(MSH2):c.1202dup (p.Leu401fs)
|
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1204del (p.Gln402fs)
|
rs63751413
|
|
NM_000251.3(MSH2):c.1214dup (p.Tyr405Ter)
|
rs2104441586
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1222_1223insTT (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1242_1260del (p.Pro415fs)
|
|
|
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)
|
rs1553356720
|
|
NM_000251.3(MSH2):c.1248dup (p.Val417fs)
|
|
|
NM_000251.3(MSH2):c.1251_1264del (p.Ile418fs)
|
rs2104443257
|
|
NM_000251.3(MSH2):c.1253_1254insGTAT (p.Ile418fs)
|
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.1265_1269delinsGAAAAG (p.Glu422fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1270del (p.His424fs)
|
rs2104444013
|
|
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter)
|
rs1064795063
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
|
|
|
NM_000251.3(MSH2):c.1277-1G>T
|
rs267607948
|
|
NM_000251.3(MSH2):c.1278_1279insTA (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1283_1284del (p.His428fs)
|
rs2103752184
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1285del (p.Gln429fs)
|
rs1114167833
|
|
NM_000251.3(MSH2):c.1293dup (p.Leu432fs)
|
rs1553361162
|
|
NM_000251.3(MSH2):c.129del (p.Phe42_Tyr43insTer)
|
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1308dup (p.Val437fs)
|
rs1060502035
|
|
NM_000251.3(MSH2):c.1309del (p.Phe436_Val437insTer)
|
|
|
NM_000251.3(MSH2):c.1316_1327del (p.Pro439_Asp442del)
|
|
|
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs)
|
rs587779083
|
|
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
|
rs1675069387
|
|
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1323dup (p.Asp442Ter)
|
|
|
NM_000251.3(MSH2):c.1331_1334del (p.Arg444fs)
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
NM_000251.3(MSH2):c.1344del (p.Lys449fs)
|
rs876658918
|
|
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)
|
rs63749920
|
|
NM_000251.3(MSH2):c.1350del (p.Gln451fs)
|
rs1553361261
|
|
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
|
|
|
NM_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)
|
rs1553361289
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1394dup (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1396del (p.His466fs)
|
rs1558508067
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1401dup (p.Phe468fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)
|
rs878853802
|
|
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer)
|
rs1060502027
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1413del (p.Lys471fs)
|
rs1553365719
|
|
NM_000251.3(MSH2):c.1413dup (p.Pro472fs)
|
|
|
NM_000251.3(MSH2):c.1415dup (p.Ser473fs)
|
rs1573547745
|
|
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)
|
rs863224481
|
|
NM_000251.3(MSH2):c.1422dup (p.Asp475Ter)
|
rs2104086036
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1433_1434del (p.Leu478fs)
|
rs587779091
|
|
NM_000251.3(MSH2):c.1438G>T (p.Glu480Ter)
|
rs2104087743
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)
|
rs63749947
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1470_1473delinsAAA (p.Met492fs)
|
rs1060502029
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1478del (p.Gln493fs)
|
rs1553365799
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487T>G (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487_1490del (p.Thr495_Leu496insTer)
|
|
|
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs)
|
rs1558508343
|
|
NM_000251.3(MSH2):c.1500del (p.Arg501fs)
|
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs)
|
rs2104170912
|
|
NM_000251.3(MSH2):c.1520del (p.Pro507fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1520dup (p.Gly508fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1530_1531del (p.Gln510fs)
|
rs2104172666
|
|
NM_000251.3(MSH2):c.153dup (p.Leu52fs)
|
rs1553348842
|
|
NM_000251.3(MSH2):c.1543_1561del (p.Ser515fs)
|
rs2104173353
|
|
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)
|
rs63750780
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)
|
rs1064793561
|
|
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1568_1570del (p.Phe523_Arg524delinsCys)
|
|
|
NM_000251.3(MSH2):c.1570del (p.Arg524fs)
|
rs1064795653
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.160del (p.Ala54fs)
|
rs876660480
|
|
NM_000251.3(MSH2):c.1613del (p.Asn538fs)
|
rs1558511092
|
|
NM_000251.3(MSH2):c.1618del (p.Ser540fs)
|
rs1573553636
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1643del (p.Gly548fs)
|
rs1666905944
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1660_1661del (p.Ser554fs)
|
rs2104186376
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>C
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+2T>G
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661+5G>C
|
rs267607972
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
NM_000251.3(MSH2):c.1662-2A>T
|
rs267607971
|
|
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667T>C (p.Leu556Ser)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667dup (p.Leu556fs)
|
rs267607694
|
|
NM_000251.3(MSH2):c.1680dup (p.Glu561Ter)
|
rs2104274481
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1698del (p.Asn566fs)
|
rs2104275987
|
|
NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)
|
rs63751149
|
|
NM_000251.3(MSH2):c.169del (p.Val57fs)
|
|
|
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)
|
rs63750474
|
|
NM_000251.3(MSH2):c.1702dup (p.Thr568fs)
|
rs587779105
|
|
NM_000251.3(MSH2):c.1704del (p.Glu569fs)
|
rs1667076589
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.171_172del (p.Phe58fs)
|
|
|
NM_000251.3(MSH2):c.1731del (p.Ile577fs)
|
|
|
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.173_174delinsAA (p.Phe58Ter)
|
rs1672250353
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1746_1747insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAATTGTC (p.Val582_Asn583insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlyXaaXaaXaaXaaLysLysLysLysLysLysLysGluIleVal)
|
rs2104278985
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
|
rs63751433
|
|
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)
|
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+1G>C
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>A
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759+3A>G
|
rs863224630
|
|
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1760-2A>G
|
rs1573566175
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs)
|
rs267607977
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1785dup (p.Asn596fs)
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1796del (p.Val598_Leu599insTer)
|
rs1060502039
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs)
|
rs1573566488
|
|
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
|
rs786203704
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.1828del (p.His610fs)
|
rs2104339867
|
|
NM_000251.3(MSH2):c.182del (p.Gln61fs)
|
rs1553348882
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1839_1845dup (p.Pro616fs)
|
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1853del (p.Pro618fs)
|
rs267607984
|
|
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)
|
rs63750312
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1868_1874del (p.Ala623fs)
|
rs2104342755
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1881dup (p.Gly628fs)
|
rs2104343300
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
NM_000251.3(MSH2):c.1887del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs)
|
rs63750960
|
|
NM_000251.3(MSH2):c.1901dup (p.Leu634fs)
|
|
|
NM_000251.3(MSH2):c.1906_2005+8del
|
|
|
NM_000251.3(MSH2):c.1906dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.190del (p.Ile64fs)
|
rs1672252966
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.191del (p.Ile64fs)
|
rs1573424223
|
|
NM_000251.3(MSH2):c.1921del (p.Cys641fs)
|
rs1573567132
|
|
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
|
rs1667245819
|
|
NM_000251.3(MSH2):c.1929dup (p.Val644fs)
|
rs1667245915
|
|
NM_000251.3(MSH2):c.192dup (p.Lys65fs)
|
rs1553348896
|
|
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)
|
rs267607982
|
|
NM_000251.3(MSH2):c.1935del (p.Asp646fs)
|
rs1573567212
|
|
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.193_194insTC (p.Lys65fs)
|
rs1553348898
|
|
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)
|
rs1553368675
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
NM_000251.3(MSH2):c.1959del (p.Asn653fs)
|
rs1573567340
|
|
NM_000251.3(MSH2):c.1960_1966del (p.Asp654fs)
|
|
|
NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)
|
rs864622121
|
|
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968del (p.Phe657fs)
|
rs1114167805
|
|
NM_000251.3(MSH2):c.1972_1973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNAGCGCCGCCGCGCCAACCACCAGCCGCGGCCACCATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTCGACCCTTCTC (p.Glu658fs)
|
rs2104349058
|
|
NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)
|
rs587779119
|
|
NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1983del (p.Lys661fs)
|
rs63751055
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1985dup (p.Met663fs)
|
rs1573567537
|
|
NM_000251.3(MSH2):c.1989del (p.Met663fs)
|
rs1558518588
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.1993del (p.His665fs)
|
rs1667251882
|
|
NM_000251.3(MSH2):c.2001dup (p.Thr668fs)
|
|
|
NM_000251.3(MSH2):c.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+255_2089del
|
rs1667266283
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2010del (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2012del (p.Asn671fs)
|
|
|
NM_000251.3(MSH2):c.2018del (p.Gly673fs)
|
|
|
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000251.3(MSH2):c.2034T>A (p.Tyr678Ter)
|
rs1558519611
|
|
NM_000251.3(MSH2):c.2035_2036del (p.Ile679fs)
|
rs587779129
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)
|
rs1553369034
|
|
NM_000251.3(MSH2):c.2046_2047del (p.Val684fs)
|
rs587779131
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.2052dup (p.Ile685fs)
|
rs1667303361
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2060del (p.Leu687fs)
|
rs1573569948
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.206del (p.Pro69fs)
|
rs1553348904
|
|
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2085dup (p.Pro696fs)
|
rs1553369100
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.20dup (p.Thr8fs)
|
rs1672230891
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+2T>C
|
rs1060501993
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.2116del (p.Asp706fs)
|
rs1553369131
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-2A>C
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-2A>T
|
rs267607917
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.2145del (p.Asp716fs)
|
rs1553369164
|
|
NM_000251.3(MSH2):c.2150_2153del (p.Ser717fs)
|
rs878853809
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2156dup (p.Leu719fs)
|
rs1667313093
|
|
NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)
|
rs1060502032
|
|
NM_000251.3(MSH2):c.2179del (p.Ala727fs)
|
rs1573570621
|
|
NM_000251.3(MSH2):c.217A>T (p.Lys73Ter)
|
rs770110491
|
|
NM_000251.3(MSH2):c.2196del (p.Ala733fs)
|
|
|
NM_000251.3(MSH2):c.2204del (p.Ile735fs)
|
rs63750572
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)
|
rs1573573619
|
|
NM_000251.3(MSH2):c.2227del (p.Ser743fs)
|
rs2104399472
|
|
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)
|
rs863225392
|
|
NM_000251.3(MSH2):c.2238del (p.Ile746_Ile747insTer)
|
rs1667387473
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246_2250del (p.Glu749fs)
|
rs1553369665
|
|
NM_000251.3(MSH2):c.2255_2256insCC (p.Arg752fs)
|
rs2104400756
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)
|
rs56076152
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer)
|
rs786204050
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2293del (p.Ala765fs)
|
|
|
NM_000251.3(MSH2):c.2294del (p.Ala765fs)
|
rs63750346
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)
|
rs1573574086
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2347del (p.His783fs)
|
rs63750233
|
|
NM_000251.3(MSH2):c.2352del (p.His785fs)
|
rs1667395869
|
|
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)
|
rs2104405386
|
|
NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361del (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2363del (p.Thr788fs)
|
rs2104405789
|
|
NM_000251.3(MSH2):c.2369del (p.Leu790fs)
|
rs1558521949
|
|
NM_000251.3(MSH2):c.2375_2378del (p.Asn792fs)
|
rs2104406331
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)
|
rs1114167832
|
|
NM_000251.3(MSH2):c.2386_2396del (p.Thr796fs)
|
rs2104406996
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2389_2390del (p.Thr796_Val797insTer)
|
rs1667398945
|
|
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)
|
rs1114167826
|
|
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.241_262del (p.Ser81fs)
|
rs1672551053
|
|
NM_000251.3(MSH2):c.2421_2422delinsCT (p.Glu808Ter)
|
rs1553369812
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
NM_000251.3(MSH2):c.2437del (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)
|
rs1667403360
|
|
NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)
|
rs63749917
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-954A>G
|
rs2104421991
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)
|
rs1553370310
|
|
NM_000251.3(MSH2):c.2474del (p.Ser825fs)
|
rs1573578423
|
|
NM_000251.3(MSH2):c.2481del (p.Ile828fs)
|
rs1573578439
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2487_2493del (p.His829fs)
|
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2513dup (p.His839fs)
|
|
|
NM_000251.3(MSH2):c.251del (p.Asn84fs)
|
rs786202037
|
|
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)
|
rs1553370366
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2525_2526dup (p.Cys843fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2532_2533delinsCT (p.Lys845Ter)
|
rs2104437748
|
|
NM_000251.3(MSH2):c.2532dup (p.Lys845Ter)
|
rs1553370371
|
|
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2545del (p.Leu849fs)
|
rs587779149
|
|
NM_000251.3(MSH2):c.2557G>T (p.Glu853Ter)
|
rs1553370397
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.256G>T (p.Glu86Ter)
|
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2577del (p.Glu859fs)
|
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2579dup (p.Gln861fs)
|
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2585dup (p.Tyr863fs)
|
rs1553370431
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2590_2594del (p.Asp864fs)
|
rs2104439954
|
|
NM_000251.3(MSH2):c.2593dup (p.Ile865fs)
|
rs1553370443
|
|
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
|
|
|
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)
|
rs1573579206
|
|
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter)
|
rs1667504677
|
|
NM_000251.3(MSH2):c.2629del (p.Arg877fs)
|
rs886041613
|
|
NM_000251.3(MSH2):c.2632G>T (p.Glu878Ter)
|
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>A
|
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2640_2641dup (p.Glu881fs)
|
rs1667576996
|
|
NM_000251.3(MSH2):c.2640_2656del (p.Glu881fs)
|
rs1064792951
|
|
NM_000251.3(MSH2):c.2641G>T (p.Glu881Ter)
|
|
|
NM_000251.3(MSH2):c.2641del (p.Glu881fs)
|
rs2104459356
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.264dup (p.Val89fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.2679_2704delinsTCACAATAAAGTT (p.Gln893fs)
|
|
|
NM_000251.3(MSH2):c.267_268insCA (p.Lys90fs)
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.272_276dup (p.Leu93fs)
|
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)
|
rs763872353
|
|
NM_000251.3(MSH2):c.294_295del (p.Tyr98_Arg99delinsTer)
|
rs1553350167
|
|
NM_000251.3(MSH2):c.298del (p.Val100fs)
|
rs1672557694
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.319delinsAATAAGGCATC (p.Ala107fs)
|
|
|
NM_000251.3(MSH2):c.324_325insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATAGAGCTGGA (p.Asn109fs)
|
|
|
NM_000251.3(MSH2):c.331del (p.Ala111fs)
|
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)
|
rs786202083
|
|
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)
|
rs1558457486
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000251.3(MSH2):c.352dup (p.Tyr118fs)
|
rs587779159
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
NM_000251.3(MSH2):c.356_357insAT (p.Ala120fs)
|
|
|
NM_000251.3(MSH2):c.362del (p.Tyr121fs)
|
rs1114167831
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.363_366dup (p.Ala123Ter)
|
|
|
NM_000251.3(MSH2):c.364A>T (p.Lys122Ter)
|
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.367-525_493del
|
rs1553350466
|
|
NM_000251.3(MSH2):c.377del (p.Gly126fs)
|
rs2104017390
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.421_422del (p.Met141fs)
|
rs1553350680
|
|
NM_000251.3(MSH2):c.422_425dup (p.Ala143fs)
|
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.439_440dup (p.Val148fs)
|
rs1558459096
|
|
NM_000251.3(MSH2):c.441del (p.Val148fs)
|
|
|
NM_000251.3(MSH2):c.443del (p.Val148fs)
|
rs1553350721
|
|
NM_000251.3(MSH2):c.463del (p.Val155fs)
|
rs1672664863
|
|
NM_000251.3(MSH2):c.466del (p.Asp156fs)
|
rs1573440880
|
|
NM_000251.3(MSH2):c.470del (p.Gly157fs)
|
|
|
NM_000251.3(MSH2):c.475del (p.Arg159fs)
|
rs1553350758
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
NM_000251.3(MSH2):c.492_493del (p.Tyr165fs)
|
rs1672667969
|
|
NM_000251.3(MSH2):c.495T>A (p.Tyr165Ter)
|
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.508_509insCTCC (p.Gln170fs)
|
rs1672669489
|
|
NM_000251.3(MSH2):c.510dup (p.Arg171fs)
|
rs1553350787
|
|
NM_000251.3(MSH2):c.513del (p.Lys172fs)
|
rs63750933
|
|
NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)
|
|
|
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro)
|
rs63750070
|
|
NM_000251.3(MSH2):c.521dup (p.Leu175fs)
|
|
|
NM_000251.3(MSH2):c.525_532del (p.Cys176fs)
|
rs1114167877
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.530_531del (p.Glu177fs)
|
rs63750551
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.565_566dup (p.Leu191fs)
|
rs1114167855
|
|
NM_000251.3(MSH2):c.567del (p.Leu190fs)
|
rs2104033787
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.590del (p.Lys197fs)
|
rs2104035729
|
|
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)
|
rs587779166
|
|
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)
|
rs63751110
|
|
NM_000251.3(MSH2):c.602T>G (p.Leu201Ter)
|
|
|
NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)
|
rs63749984
|
|
NM_000251.3(MSH2):c.615_616del (p.Glu205fs)
|
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.638_639del (p.Leu213fs)
|
rs63751622
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)
|
rs1573442100
|
|
NM_000251.3(MSH2):c.643del (p.Gln215fs)
|
rs1558459882
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
NM_000251.3(MSH2):c.645+2T>G
|
rs876658996
|
|
NM_000251.3(MSH2):c.647dup (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.679del (p.Arg227fs)
|
rs1573446614
|
|
NM_000251.3(MSH2):c.680_681del (p.Arg227fs)
|
rs1558461683
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.697dup (p.Ser233fs)
|
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.718del (p.Asp240fs)
|
rs2104104410
|
|
NM_000251.3(MSH2):c.728_729del (p.Arg243fs)
|
|
|
NM_000251.3(MSH2):c.731del (p.Leu244fs)
|
rs876660655
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.755_758dup (p.Met253fs)
|
rs2104108180
|
|
NM_000251.3(MSH2):c.776del (p.Pro259fs)
|
|
|
NM_000251.3(MSH2):c.782_783insA (p.Met261fs)
|
rs786204144
|
|
NM_000251.3(MSH2):c.784G>T (p.Glu262Ter)
|
|
|
NM_000251.3(MSH2):c.784dup (p.Glu262fs)
|
rs2104111087
|
|
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)
|
rs878853824
|
|
NM_000251.3(MSH2):c.790dup (p.Gln264fs)
|
rs1114167814
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1_792+2inv
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)
|
rs563410947
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.812_813del (p.Ser271fs)
|
rs1573451108
|
|
NM_000251.3(MSH2):c.817del (p.Ala272_Val273insTer)
|
rs1672945766
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830del (p.Phe276_Leu277insTer)
|
rs2104168299
|
|
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.835_842dup (p.Asp282fs)
|
|
|
NM_000251.3(MSH2):c.839del (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.850del (p.Ser284fs)
|
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)
|
rs1060502001
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.863del (p.Gln288fs)
|
rs587779189
|
|
NM_000251.3(MSH2):c.867del (p.Phe289fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
|
rs1553352505
|
|
NM_000251.3(MSH2):c.87_90del (p.Thr31fs)
|
rs1060502000
|
|
NM_000251.3(MSH2):c.880_887dup (p.Ser297fs)
|
rs2104174891
|
|
NM_000251.3(MSH2):c.882_883insSVAelement
|
rs1672953209
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)
|
|
|
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)
|
rs879254104
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.89del (p.Pro30fs)
|
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.912dup (p.Ala305fs)
|
rs863224833
|
|
NM_000251.3(MSH2):c.913dup (p.Ala305fs)
|
rs786203604
|
|
NM_000251.3(MSH2):c.914_923del (p.Ala305fs)
|
rs1672955848
|
|
NM_000251.3(MSH2):c.917_918del (p.Ala306fs)
|
|
|
NM_000251.3(MSH2):c.91_104del (p.Thr31fs)
|
rs2103872773
|
|
NM_000251.3(MSH2):c.920_923del (p.Val307fs)
|
rs2104179024
|
|
NM_000251.3(MSH2):c.921dup (p.Arg308fs)
|
rs2104179388
|
|
NM_000251.3(MSH2):c.924_925del (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.928dup (p.Leu310fs)
|
|
|
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)
|
rs63750640
|
|
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)
|
rs63750640
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.934del (p.Leu312fs)
|
rs267607937
|
|
NM_000251.3(MSH2):c.938_939dup (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.939del (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+2T>C
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2A>T
|
rs587779198
|
|
NM_000251.3(MSH2):c.944del (p.Gly315Valfs)
|
rs1673064965
|
|
NM_000251.3(MSH2):c.946del (p.Ser316fs)
|
|
|
NM_000251.3(MSH2):c.948dup (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.955_959del (p.Asp319fs)
|
rs1673066717
|
|
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
|
rs1673067879
|
|
NM_000251.3(MSH2):c.961_1006del (p.Thr321fs)
|
rs1553353114
|
|
NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)
|
rs1673070318
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
NM_000251.3(MSH2):c.970dup (p.Gln324fs)
|
|
|
NM_000251.3(MSH2):c.979del (p.Ala327fs)
|
rs1558466434
|
|
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000251.3(MSH2):c.98del (p.Thr33fs)
|
rs1573423412
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
NM_000251.3(MSH2):c.997dup (p.Cys333fs)
|
rs2104247156
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer)
|
rs2104247018
|
|
NM_000535.5(PMS2):c.904-10_*10del
|
|
|
NM_000535.7(PMS2):c.1009dup (p.Thr337fs)
|
rs1214597671
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1027del (p.Ile343fs)
|
rs1562644987
|
|
NM_000535.7(PMS2):c.1035dup (p.Gln346fs)
|
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
|
|
|
NM_000535.7(PMS2):c.1053del (p.Leu351fs)
|
rs1554298756
|
|
NM_000535.7(PMS2):c.1064T>G (p.Leu355Ter)
|
rs1783532593
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1G>T
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1144+2T>G
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1154del (p.Ile385fs)
|
rs2128737282
|
|
NM_000535.7(PMS2):c.1159del (p.Met387fs)
|
rs2128737155
|
|
NM_000535.7(PMS2):c.1160dup (p.Met387fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter)
|
rs1243063129
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1210_1211del (p.Pro404fs)
|
rs2128736116
|
|
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)
|
rs3209663
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.122del (p.Glu41fs)
|
|
|
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)
|
rs1562635799
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1264G>T (p.Glu422Ter)
|
rs587782175
|
|
NM_000535.7(PMS2):c.1264del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT (p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.12dup (p.Glu5Ter)
|
rs1282857832
|
|
NM_000535.7(PMS2):c.130G>T (p.Glu44Ter)
|
rs786202669
|
|
NM_000535.7(PMS2):c.1313dup (p.Thr439fs)
|
rs1562634737
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1356del (p.Met453fs)
|
rs1783123619
|
|
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
|
rs1583320992
|
|
NM_000535.7(PMS2):c.1375del (p.Ser459fs)
|
rs1783113930
|
|
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs)
|
rs1554297764
|
|
NM_000535.7(PMS2):c.142del (p.Asp48fs)
|
rs1064794173
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter)
|
rs587782602
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1515del (p.Phe506fs)
|
rs1583319050
|
|
NM_000535.7(PMS2):c.1532del (p.Thr511fs)
|
rs1554297636
|
|
NM_000535.7(PMS2):c.1537del (p.Ser513fs)
|
|
|
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
|
rs1583318494
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1559del (p.Ala520fs)
|
rs1554297564
|
|
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1579del (p.Arg527fs)
|
rs1554297523
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1587dup (p.Gln530fs)
|
|
|
NM_000535.7(PMS2):c.1595_1596del (p.His532fs)
|
|
|
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs)
|
rs2128726933
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1672del (p.Thr558fs)
|
rs1562629003
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer)
|
rs1785429855
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs)
|
rs1782992250
|
|
NM_000535.7(PMS2):c.1746del (p.Glu583fs)
|
rs1554297285
|
|
NM_000535.7(PMS2):c.1750del (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1750dup (p.Ile584fs)
|
rs864622600
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.176del (p.Lys59fs)
|
rs1785429311
|
|
NM_000535.7(PMS2):c.176dup (p.Asp60fs)
|
|
|
NM_000535.7(PMS2):c.1774C>T (p.Gln592Ter)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
|
rs1782978316
|
|
NM_000535.7(PMS2):c.1800del (p.Met600fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.180del (p.Tyr61fs)
|
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1826_1827del (p.Val609fs)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1842dup (p.Val615fs)
|
rs1782962828
|
|
NM_000535.7(PMS2):c.1853del (p.Leu618fs)
|
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1885del (p.Arg628_Ile629insTer)
|
rs1782949480
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs)
|
rs1562626204
|
|
NM_000535.7(PMS2):c.1897del (p.His633fs)
|
rs1782947222
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)
|
rs1562626011
|
|
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)
|
rs764342199
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1915del (p.Ser639fs)
|
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter)
|
rs1554297082
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.198_213del (p.Ile66fs)
|
rs1785420264
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007dup (p.Lys670Ter)
|
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter)
|
rs1583299686
|
|
NM_000535.7(PMS2):c.2039del (p.Gly680fs)
|
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.2098C>T (p.Gln700Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2118_2120dup (p.Tyr707Ter)
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs)
|
rs1562614946
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)
|
rs786202202
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.2208del (p.Ala737fs)
|
rs2128683310
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter)
|
rs1583285344
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>T
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer)
|
rs1554293959
|
|
NM_000535.7(PMS2):c.232_235del (p.Glu78fs)
|
rs1583410315
|
|
NM_000535.7(PMS2):c.2339_2343del (p.Pro780fs)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341dup (p.Gln781fs)
|
rs2128674468
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2357_2445+510del
|
rs1562598658
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2380_2381dup (p.Gly795fs)
|
rs2128673214
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
|
|
|
NM_000535.7(PMS2):c.2399dup (p.Ser801fs)
|
|
|
NM_000535.7(PMS2):c.239_242dup (p.Glu81fs)
|
rs2128829368
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)
|
rs587779338
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.251-1G>C
|
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs)
|
rs2128657907
|
|
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)
|
rs876661203
|
|
NM_000535.7(PMS2):c.2523del (p.Pro840_Trp841insTer)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2_3delinsA (p.Met1fs)
|
|
|
NM_000535.7(PMS2):c.308del (p.Thr103fs)
|
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.345_346del (p.Ala116fs)
|
rs1785363766
|
|
NM_000535.7(PMS2):c.349_350del (p.Leu117fs)
|
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.367dup (p.Ser123fs)
|
|
|
NM_000535.7(PMS2):c.380dup (p.Ser128fs)
|
|
|
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
|
|
|
NM_000535.7(PMS2):c.391del (p.Val131fs)
|
rs2128818786
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>C (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.427del (p.Ile143fs)
|
|
|
NM_000535.7(PMS2):c.42del (p.Ile15fs)
|
rs2128846824
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.451dup (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_456del (p.Arg151fs)
|
rs2128817368
|
|
NM_000535.7(PMS2):c.457A>T (p.Arg153Ter)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)
|
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
NM_000535.7(PMS2):c.537+1G>T
|
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.537+2T>C
|
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)
|
rs1583387894
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.547A>T (p.Lys183Ter)
|
|
|
NM_000535.7(PMS2):c.54del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.550del (p.Met184fs)
|
|
|
NM_000535.7(PMS2):c.564dup (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
|
rs761134229
|
|
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
|
|
|
NM_000535.7(PMS2):c.630del (p.Lys210fs)
|
rs1784806713
|
|
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter)
|
rs762387250
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.663del (p.Ser222fs)
|
rs2128799910
|
|
NM_000535.7(PMS2):c.66_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.673G>T (p.Glu225Ter)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.686_687del (p.Ser229fs)
|
rs746766787
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.691_694del (p.Phe231fs)
|
rs1784787989
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
|
rs1784546407
|
|
NM_000535.7(PMS2):c.713del (p.Ser238fs)
|
rs2128788650
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.732del (p.Gln244fs)
|
rs2128788235
|
|
NM_000535.7(PMS2):c.735dup (p.Pro246fs)
|
rs2128788145
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter)
|
rs730881920
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.787del (p.Leu263fs)
|
|
|
NM_000535.7(PMS2):c.796_797del (p.Leu266fs)
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
|
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
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rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.852_855del (p.Arg287fs)
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.859dup (p.Arg287fs)
|
rs1554300763
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870del (p.Phe291fs)
|
rs1784299649
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.92_99del (p.Val31fs)
|
rs2128845440
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.947_948del (p.His316fs)
|
rs878854060
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.954T>A (p.Tyr318Ter)
|
rs2128755485
|
|
NM_000535.7(PMS2):c.986C>A (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.987dup (p.Glu330fs)
|
rs2128754982
|
|
NM_000535.7(PMS2):c.989-1G>A
|
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_001354629.2(MLH1):c.208-3445_208-3439del
|
rs730881734
|
|
NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter)
|
rs878854485
|
|
NM_002354.3(EPCAM):c.491+1G>T
|
rs606231203
|
|
NM_002354.3(EPCAM):c.712del (p.Glu238fs)
|
rs1558438591
|
|
Single allele
|
|
|