NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
NC_000001.10:g.(?_161284158)_(161284225_?)del
|
|
|
NC_000001.10:g.(?_161293394)_(161293470_?)del
|
|
|
NC_000001.10:g.(?_161298176)_(161298297_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161310455_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161326457)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17371403_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17371246)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)del
|
|
|
NC_000001.11:g.(?_161314400)_(161362439_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161328507_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362443_?)del
|
|
|
NC_000001.11:g.(?_161356677)_(161356840_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17018968_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17054029_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17044894_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17071491_?)del
|
|
|
NC_000001.11:g.(?_17033050)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17033054)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17044751)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17044761)_(17044888_?)del
|
|
|
NC_000001.11:g.(?_17053938)_(17054029_?)del
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)del
|
|
|
NC_000010.10:g.(?_104263900)_(104389922_?)del
|
|
|
NC_000010.10:g.(?_104352329)_(104352491_?)del
|
|
|
NC_000010.10:g.(?_104352329)_(104353832_?)del
|
|
|
NC_000010.10:g.(?_104386922)_(104392580_?)del
|
|
|
NC_000010.11:g.(?_102504143)_(102550116_?)del
|
|
|
NC_000010.11:g.(?_102549960)_(102550116_?)del
|
|
|
NC_000010.11:g.(?_102593630)_(102597299_?)del
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
NC_000017.10:g.(?_38785037)_(38804103_?)del
|
|
|
NC_000019.10:g.(?_10984121)_(11062282_?)del
|
|
|
NC_000019.10:g.(?_11018947)_(11030903_?)del
|
|
|
NC_000019.10:g.(?_11018951)_(11030899_?)del
|
|
|
NC_000019.9:g.(?_11094822)_(11172498_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11114083_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11129709_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)del
|
|
|
NC_000019.9:g.(?_11094828)_(11172492_?)del
|
|
|
NC_000019.9:g.(?_11098332)_(11105687_?)del
|
|
|
NC_000019.9:g.(?_11099983)_(11102009_?)del
|
|
|
NC_000019.9:g.(?_11101816)_(11152246_?)del
|
|
|
NC_000019.9:g.(?_11118568)_(11118709_?)del
|
|
|
NC_000019.9:g.(?_11121047)_(11136194_?)del
|
|
|
NM_001128849.1(SMARCA4):c.3874delG
|
|
|
NM_003000.2(SDHB):c.-151_*159del
|
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.112del (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.126del (p.Phe42fs)
|
rs878854572
|
|
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
|
|
|
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)
|
rs1351034939
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
NM_003000.3(SDHB):c.146del (p.Pro49fs)
|
|
|
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)
|
rs1570958022
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)
|
rs2101551903
|
|
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.190del (p.Asp64fs)
|
rs1553178729
|
|
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)
|
rs876659329
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+1G>C
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.201-1G>C
|
|
|
NM_003000.3(SDHB):c.201-2A>C
|
rs878854574
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)
|
rs1060503767
|
|
NM_003000.3(SDHB):c.22dup (p.Ser8fs)
|
rs2101551846
|
|
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)
|
rs2101528972
|
|
NM_003000.3(SDHB):c.249del (p.Asp84fs)
|
rs2101528951
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)
|
rs878854575
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
|
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)
|
rs2101523248
|
|
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
|
rs1060503751
|
|
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)
|
rs864321636
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.392del (p.Pro131fs)
|
rs1553177739
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)
|
rs1557741425
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)
|
rs1570948527
|
|
NM_003000.3(SDHB):c.424-1G>A
|
rs1131691060
|
|
NM_003000.3(SDHB):c.424-2A>G
|
rs2101521922
|
|
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)
|
rs2101551748
|
|
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
|
rs1060503763
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)
|
rs2101521836
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)
|
rs2101521812
|
|
NM_003000.3(SDHB):c.466del (p.Tyr156fs)
|
rs2101521760
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
NM_003000.3(SDHB):c.473del (p.Lys158fs)
|
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)
|
rs2101521715
|
|
NM_003000.3(SDHB):c.491del (p.Gln164fs)
|
rs1553177678
|
|
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)
|
rs1060503753
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
|
|
|
NM_003000.3(SDHB):c.523dup (p.Glu175fs)
|
rs2077999421
|
|
NM_003000.3(SDHB):c.537dup (p.Leu180fs)
|
rs1553177669
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.598del (p.Trp200fs)
|
rs2101516424
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)
|
rs1060503759
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
|
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
NM_003000.3(SDHB):c.608del (p.Gly203fs)
|
rs1553177436
|
|
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)
|
rs1570945796
|
|
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)
|
rs1060503752
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.637dup (p.Met213fs)
|
|
|
NM_003000.3(SDHB):c.63dup (p.Cys22fs)
|
rs1570963451
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.642+1G>A
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642+2T>G
|
rs1553177424
|
|
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)
|
rs200245469
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)
|
rs1570944850
|
|
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
|
|
|
NM_003000.3(SDHB):c.677del (p.Phe226fs)
|
rs2077968833
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)
|
rs1209914140
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)
|
rs1553177285
|
|
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
|
|
|
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)
|
rs1570963430
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003000.3(SDHB):c.717dup (p.Leu240fs)
|
rs1060503764
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+1G>A
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.743_765+36del
|
rs2101513438
|
|
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.75del (p.Ser26fs)
|
rs2101541632
|
|
NM_003000.3(SDHB):c.761_765+33del
|
rs2077967597
|
|
NM_003000.3(SDHB):c.765+1G>A
|
rs2101513511
|
|
NM_003000.3(SDHB):c.784del (p.Ala262fs)
|
|
|
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
NM_003001.3(SDHC):c.406-?_*2318+?del
|
|
|
NM_003001.5(SDHC):c.124del (p.Trp42fs)
|
rs2102307803
|
|
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
|
|
|
NM_003001.5(SDHC):c.175del (p.Tyr59fs)
|
rs1671157149
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)
|
rs1553260596
|
|
NM_003001.5(SDHC):c.183del (p.Trp61fs)
|
rs1671684409
|
|
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
|
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
NM_003001.5(SDHC):c.20+4066C>G
|
|
|
NM_003001.5(SDHC):c.21-1G>A
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.21-3C>G
|
rs1670921815
|
|
NM_003001.5(SDHC):c.214del (p.Arg72fs)
|
rs2102336244
|
|
NM_003001.5(SDHC):c.215del (p.Arg72fs)
|
rs1553264218
|
|
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
|
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
NM_003001.5(SDHC):c.247dup (p.Ser83fs)
|
rs1672284298
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.278dup (p.Gly94fs)
|
rs1483039185
|
|
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
|
|
|
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
|
|
|
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)
|
rs1672291512
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003001.5(SDHC):c.405+1G>A
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
|
|
|
NM_003001.5(SDHC):c.86del (p.Pro29fs)
|
rs1671145065
|
|
NM_003002.3(SDHD):c.-84_*831del
|
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
NM_003072.5(SMARCA4):c.1020_1053dup (p.Ile352fs)
|
|
|
NM_003072.5(SMARCA4):c.1066C>T (p.Gln356Ter)
|
|
|
NM_003072.5(SMARCA4):c.1123C>T (p.Gln375Ter)
|
|
|
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)
|
rs972341316
|
|
NM_003072.5(SMARCA4):c.1177del (p.Ala393fs)
|
rs2145848353
|
|
NM_003072.5(SMARCA4):c.1189C>T (p.Arg397Ter)
|
rs1295192121
|
|
NM_003072.5(SMARCA4):c.1243C>T (p.Gln415Ter)
|
rs2086356894
|
|
NM_003072.5(SMARCA4):c.1378C>T (p.Gln460Ter)
|
rs1490850743
|
|
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter)
|
rs1555757738
|
|
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs)
|
rs2145938835
|
|
NM_003072.5(SMARCA4):c.1543C>T (p.Gln515Ter)
|
rs2086887013
|
|
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
|
|
|
NM_003072.5(SMARCA4):c.1567G>T (p.Glu523Ter)
|
rs2086888561
|
|
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys)
|
rs2087030906
|
|
NM_003072.5(SMARCA4):c.1649del (p.Leu550fs)
|
|
|
NM_003072.5(SMARCA4):c.1680C>G (p.Tyr560Ter)
|
rs375507937
|
|
NM_003072.5(SMARCA4):c.1681del (p.Val561fs)
|
rs2087033635
|
|
NM_003072.5(SMARCA4):c.1754_1757del (p.Lys585fs)
|
rs1555763780
|
|
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)
|
rs1342399494
|
|
NM_003072.5(SMARCA4):c.1831C>T (p.Gln611Ter)
|
rs1568455217
|
|
NM_003072.5(SMARCA4):c.1958del (p.Pro653fs)
|
|
|
NM_003072.5(SMARCA4):c.1996G>T (p.Glu666Ter)
|
|
|
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter)
|
rs1555771571
|
|
NM_003072.5(SMARCA4):c.2111_2115del (p.Arg704fs)
|
rs2146193795
|
|
NM_003072.5(SMARCA4):c.2149G>T (p.Glu717Ter)
|
rs2146234214
|
|
NM_003072.5(SMARCA4):c.2164C>T (p.Gln722Ter)
|
rs1555773269
|
|
NM_003072.5(SMARCA4):c.2266C>T (p.Gln756Ter)
|
|
|
NM_003072.5(SMARCA4):c.2291G>A (p.Trp764Ter)
|
|
|
NM_003072.5(SMARCA4):c.2292G>A (p.Trp764Ter)
|
rs2088999811
|
|
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter)
|
rs1568419675
|
|
NM_003072.5(SMARCA4):c.2329del (p.Leu777fs)
|
rs1555774702
|
|
NM_003072.5(SMARCA4):c.2527del (p.Ala843fs)
|
rs2146373508
|
|
NM_003072.5(SMARCA4):c.2625del (p.Arg874_Trp875insTer)
|
|
|
NM_003072.5(SMARCA4):c.274del (p.Gln92fs)
|
|
|
NM_003072.5(SMARCA4):c.2766G>A (p.Trp922Ter)
|
|
|
NM_003072.5(SMARCA4):c.2780del (p.Phe927fs)
|
rs2146421085
|
|
NM_003072.5(SMARCA4):c.2825G>A (p.Trp942Ter)
|
rs2146422618
|
|
NM_003072.5(SMARCA4):c.2826G>A (p.Trp942Ter)
|
rs2146422656
|
|
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs)
|
rs2146423140
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)
|
rs797045980
|
|
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter)
|
rs1064796254
|
|
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter)
|
rs769308802
|
|
NM_003072.5(SMARCA4):c.2959C>T (p.Gln987Ter)
|
|
|
NM_003072.5(SMARCA4):c.300_301del (p.Gly102fs)
|
rs780424104
|
|
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter)
|
rs2146473376
|
|
NM_003072.5(SMARCA4):c.3033dup (p.Gln1012fs)
|
rs2090100956
|
|
NM_003072.5(SMARCA4):c.3129del (p.Lys1044fs)
|
rs2146497558
|
|
NM_003072.5(SMARCA4):c.3169G>T (p.Glu1057Ter)
|
rs1555781050
|
|
NM_003072.5(SMARCA4):c.3211dup (p.Gln1071fs)
|
rs2146516794
|
|
NM_003072.5(SMARCA4):c.3228C>G (p.Tyr1076Ter)
|
rs2146541525
|
|
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter)
|
rs2146541571
|
|
NM_003072.5(SMARCA4):c.3267del (p.Lys1091fs)
|
|
|
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter)
|
rs1600335765
|
|
NM_003072.5(SMARCA4):c.336dup (p.Met113fs)
|
rs2145752321
|
|
NM_003072.5(SMARCA4):c.33_51del (p.Pro12fs)
|
|
|
NM_003072.5(SMARCA4):c.343C>T (p.Gln115Ter)
|
rs2145752709
|
|
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
|
|
|
NM_003072.5(SMARCA4):c.3547-1G>A
|
rs2146647668
|
|
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter)
|
rs1600389034
|
|
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)
|
rs267607070
|
|
NM_003072.5(SMARCA4):c.3603dup (p.Leu1202fs)
|
|
|
NM_003072.5(SMARCA4):c.3607C>T (p.Arg1203Cys)
|
|
|
NM_003072.5(SMARCA4):c.365C>A (p.Ser122Ter)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3725del (p.Glu1242fs)
|
|
|
NM_003072.5(SMARCA4):c.3809_3825dup (p.Pro1276fs)
|
rs2075088671
|
|
NM_003072.5(SMARCA4):c.3827del (p.Pro1276fs)
|
rs2146666663
|
|
NM_003072.5(SMARCA4):c.3910C>T (p.Gln1304Ter)
|
rs2146678594
|
|
NM_003072.5(SMARCA4):c.3980_3981del (p.Glu1327fs)
|
|
|
NM_003072.5(SMARCA4):c.4077T>A (p.Cys1359Ter)
|
rs2146700981
|
|
NM_003072.5(SMARCA4):c.4145C>A (p.Ser1382Ter)
|
|
|
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter)
|
rs878854224
|
|
NM_003072.5(SMARCA4):c.4345G>T (p.Glu1449Ter)
|
|
|
NM_003072.5(SMARCA4):c.4459C>T (p.Gln1487Ter)
|
|
|
NM_003072.5(SMARCA4):c.4465_4466insT (p.Pro1489fs)
|
|
|
NM_003072.5(SMARCA4):c.4600C>T (p.Gln1534Ter)
|
rs2076695154
|
|
NM_003072.5(SMARCA4):c.4660C>T (p.Gln1554Ter)
|
rs1555795884
|
|
NM_003072.5(SMARCA4):c.4684C>T (p.Gln1562Ter)
|
|
|
NM_003072.5(SMARCA4):c.4738G>T (p.Glu1580Ter)
|
rs1600644640
|
|
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter)
|
rs2145775805
|
|
NM_003072.5(SMARCA4):c.493C>T (p.Gln165Ter)
|
rs1568422286
|
|
NM_003072.5(SMARCA4):c.561C>G (p.Tyr187Ter)
|
rs1305866080
|
|
NM_003072.5(SMARCA4):c.574del (p.Arg192fs)
|
rs2145779070
|
|
NM_003072.5(SMARCA4):c.579del (p.Gln194fs)
|
|
|
NM_003072.5(SMARCA4):c.657_661del (p.Leu220fs)
|
|
|
NM_003072.5(SMARCA4):c.662del (p.Pro221fs)
|
rs1060502085
|
|
NM_003072.5(SMARCA4):c.671_696del (p.Ser224fs)
|
|
|
NM_003072.5(SMARCA4):c.810del (p.Met272fs)
|
|
|
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
|
|
|
NM_003072.5(SMARCA4):c.823C>T (p.Gln275Ter)
|
rs1555754293
|
|
NM_003072.5(SMARCA4):c.868del (p.Ala290fs)
|
|
|
NM_003072.5(SMARCA4):c.870del (p.Asn291fs)
|
|
|
NM_003072.5(SMARCA4):c.916C>T (p.Gln306Ter)
|
rs2086182638
|
|
NM_003072.5(SMARCA4):c.917_941del (p.Gln306fs)
|
rs2145815261
|
|
NM_003072.5(SMARCA4):c.982_986del (p.Pro328fs)
|
rs1555755067
|
|
NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter)
|
rs1060501395
|
|
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter)
|
rs2143997316
|
|
NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter)
|
rs2037146773
|
|
NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)
|
|
|
NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs)
|
rs1555605750
|
|
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter)
|
rs1251821702
|
|
NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter)
|
rs2143996133
|
|
NM_003079.5(SMARCE1):c.506del (p.Pro169fs)
|
|
|
NM_003079.5(SMARCE1):c.525del (p.Ala176fs)
|
rs878854603
|
|
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
|
|
|
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs)
|
rs797045990
|
|
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
|
|
|
NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter)
|
rs2143988272
|
|
NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)
|
|
|
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter)
|
rs397509405
|
|
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter)
|
rs1057518166
|
|
NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter)
|
rs1555605347
|
|
NM_003079.5(SMARCE1):c.808del (p.Arg272fs)
|
rs2143986851
|
|
NM_003079.5(SMARCE1):c.814del (p.Arg272fs)
|
|
|
NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter)
|
rs2037087179
|
|
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs)
|
rs2144009190
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
NM_016169.4(SUFU):c.1009del (p.His337fs)
|
rs869300423
|
|
NM_016169.4(SUFU):c.1018del (p.Ala340fs)
|
rs2135889203
|
|
NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
|
|
|
NM_016169.4(SUFU):c.1077del (p.Glu359fs)
|
rs2135930082
|
|
NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
|
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
|
|
|
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
|
|
|
NM_016169.4(SUFU):c.124dup (p.Arg42fs)
|
rs2062292476
|
|
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
|
|
|
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
|
|
|
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)
|
rs2135598685
|
|
NM_016169.4(SUFU):c.171dup (p.Val58fs)
|
rs1554840869
|
|
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)
|
rs1564654588
|
|
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
|
|
|
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
|
|
|
NM_016169.4(SUFU):c.341del (p.Ser114fs)
|
rs1060501108
|
|
NM_016169.4(SUFU):c.37_53del (p.Thr13fs)
|
rs2135597189
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)
|
rs2135743382
|
|
NM_016169.4(SUFU):c.454+1G>A
|
rs1564676479
|
|
NM_016169.4(SUFU):c.53_59del (p.Pro18fs)
|
rs2135597558
|
|
NM_016169.4(SUFU):c.53del (p.Pro18fs)
|
rs2135597588
|
|
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
|
|
|
NM_016169.4(SUFU):c.576dup (p.Gly193fs)
|
rs2135867295
|
|
NM_016169.4(SUFU):c.581del (p.Val194fs)
|
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
|
|
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
|
|
|
NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
|
|
NM_016169.4(SUFU):c.71del (p.Pro24fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
NM_016169.4(SUFU):c.73dup (p.Ala25fs)
|
rs2135597894
|
|
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)
|
rs2063471372
|
|
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)
|
rs1564698683
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
NM_016169.4(SUFU):c.82_86del (p.Ser28fs)
|
rs2135597925
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
NM_016169.4(SUFU):c.847dup (p.Glu283fs)
|
rs2063472158
|
|
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)
|
rs2135881899
|
|
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
|
|
|
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)
|
rs2135882212
|
|
NM_016169.4(SUFU):c.892del (p.Arg298fs)
|
rs2063473101
|
|
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)
|
rs2135882232
|
|
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
|
|
|
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)
|
rs1564698850
|
|
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)
|
rs2135888594
|
|
NM_016169.4(SUFU):c.95del (p.Pro32fs)
|
|
|
Single allele
|
|
|