ClinVar Miner

List of variants reported as pathogenic for central nervous system neoplasm

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 859
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) rs1270341616 0.00003
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_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
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_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 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
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 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_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
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:(102444036_?)_(?_104726221)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_000011.9:g.(?_111957571)_(111966518_?)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
NG_012337.3(SDHD):g.11847_14024del
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000251.3(MSH2):c.1958_1965del (p.Asn653fs) rs1558518449
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) rs2118338419
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.885+1G>A rs2066581489
NM_000268.4(NF2):c.995del (p.Lys332fs) rs587776563
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001128849.1(SMARCA4):c.3874delG
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg) rs1565635212
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs) rs147891461
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002608.4(PDGFB):c.602-1396_602-1262del
NM_003000.2(SDHB):c.-151_*159del
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
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.18_21delinsACT (p.Ser8fs)
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>G (p.Met1Val)
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.201-4429_287-934del
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
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.302G>A (p.Cys101Tyr) rs74315371
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.603G>A (p.Trp201Ter)
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.107_108del (p.Glu36fs)
NM_003001.5(SDHC):c.118del (p.Arg40fs)
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.49del (p.His17fs)
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.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.10dup (p.Leu4fs) rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg) rs80338844
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.336dup (p.Asp113Ter) rs1555187583
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) rs587776645
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) rs1314133983
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
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.1155_1157del (p.Glu386del) rs1555756326
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.1351C>T (p.Arg451Cys) rs2086534839
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.2156G>A (p.Gly719Asp) rs2088712889
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.2617-3C>G rs587777463
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.3239G>A (p.Gly1080Asp) rs587777464
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.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3512_3513del (p.Val1171fs)
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
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.4170+1G>A rs587777461
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.4667del (p.Val1556fs) rs797045987
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.643C>T (p.Gln215Ter) rs587777462
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_003073.5(SMARCB1):c.351dup (p.Thr118fs) rs1555876140
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.439del (p.Ser147fs)
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.587del (p.Phe196fs)
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_003562.5(SLC25A11):c.107_108del (p.Thr36fs) rs1374026152
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) rs1567651815
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) rs1203876038
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) rs1567650874
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) rs1567650859
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.312T>C (p.Cys104=) rs1291760879
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
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.1473del (p.Glu491fs)
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.1665_1670delinsTCCC (p.Met556fs)
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.244G>T (p.Glu82Ter)
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.324dup (p.Ala109fs)
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.55_57delinsCA (p.Ala19fs)
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.637dup (p.Thr213fs)
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.777C>G (p.Tyr259Ter)
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.870dup (p.Glu291fs)
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.897_1260+1del
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_004168.4(SDHA):c.99dup (p.His34fs)
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005631.5(SMO):c.1417G>C (p.Asp473His) rs17710891
NM_006565.4(CTCF):c.610dup (p.Thr204fs) rs886041997
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.111del (p.Tyr38fs) rs863224925
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.143dup (p.Pro49fs) rs1589970134
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.44C>T (p.Pro15Leu) rs28942088
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)
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
Single allele

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