ClinVar Miner

List of variants studied for central nervous system neoplasm by Baylor Genetics

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 756
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) rs765927395 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu) rs371045201 0.00007
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His) rs201577008 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val) rs756474511 0.00006
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu) rs762023872 0.00006
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser) rs151220618 0.00006
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln) rs375672575 0.00005
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp) rs773859296 0.00005
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_017841.4(SDHAF2):c.239T>C (p.Leu80Ser) rs376560419 0.00005
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_003000.3(SDHB):c.695C>T (p.Ala232Val) rs746224555 0.00004
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr) rs371214327 0.00004
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu) rs755935365 0.00004
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val) rs767638396 0.00004
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser) rs766474711 0.00004
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val) rs777647740 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp) rs766797299 0.00004
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu) rs878854234 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser) rs745448272 0.00004
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr) rs372988818 0.00004
NM_003977.4(AIP):c.226A>G (p.Ile76Val) rs372657895 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln) rs149016373 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val) rs111402137 0.00004
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) rs535627239 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073 0.00003
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr) rs111491424 0.00003
NM_003072.5(SMARCA4):c.1090G>A (p.Val364Met) rs1020163987 0.00003
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699 0.00003
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr) rs776672640 0.00003
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) rs143950084 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly) rs373390083 0.00003
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr) rs374722116 0.00003
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu) rs1368858108 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=) rs746320191 0.00003
NM_003977.4(AIP):c.161G>A (p.Arg54Gln) rs762938281 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003977.4(AIP):c.935G>A (p.Arg312Gln) rs775563618 0.00003
NM_003977.4(AIP):c.941G>A (p.Arg314Gln) rs540000299 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg) rs771925230 0.00002
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val) rs878854196 0.00002
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg) rs765139835 0.00002
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn) rs772752194 0.00002
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val) rs773252889 0.00002
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met) rs766237791 0.00002
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met) rs370484739 0.00002
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met) rs372893370 0.00002
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val) rs148115492 0.00002
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu) rs778071122 0.00002
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met) rs768522438 0.00002
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg) rs775843321 0.00002
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu) rs775997908 0.00002
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys) rs925142025 0.00002
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys) rs755389218 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389 0.00002
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys) rs1026724985 0.00001
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504 0.00001
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His) rs1018881303 0.00001
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu) rs766176476 0.00001
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met) rs532242119 0.00001
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile) rs372078902 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.1907C>G (p.Ala636Gly) rs201807686 0.00001
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met) rs767328169 0.00001
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp) rs781539973 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg) rs748147246 0.00001
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln) rs1060502059 0.00001
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg) rs1291938544 0.00001
NM_003072.5(SMARCA4):c.2549G>T (p.Ser850Ile) rs1394680906 0.00001
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu) rs751542188 0.00001
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg) rs140176945 0.00001
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg) rs1288014090 0.00001
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg) rs770147215 0.00001
NM_003072.5(SMARCA4):c.3218T>A (p.Leu1073Gln) rs767165458 0.00001
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp) rs566531015 0.00001
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu) rs1201812441 0.00001
NM_003072.5(SMARCA4):c.3874-9A>G rs1371357028 0.00001
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val) rs1221798183 0.00001
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu) rs1060502073 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys) rs587778681 0.00001
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His) rs377573682 0.00001
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His) rs1389184364 0.00001
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu) rs1057523990 0.00001
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp) rs1303089960 0.00001
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met) rs1568565611 0.00001
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln) rs1484835507 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.4843C>T (p.Arg1615Trp) rs902428108 0.00001
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu) rs756255060 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.4911+1G>A rs1341783002 0.00001
NM_003072.5(SMARCA4):c.4911+5G>A rs534705500 0.00001
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys) rs776222414 0.00001
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp) rs748298484 0.00001
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln) rs769756381 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser) rs759641262 0.00001
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg) rs769414440 0.00001
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser) rs767947665 0.00001
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val) rs763054014 0.00001
NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn) rs756170542 0.00001
NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn) rs748459210 0.00001
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu) rs878854245 0.00001
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser) rs1304026031 0.00001
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu) rs910095001 0.00001
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr) rs1344296942 0.00001
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met) rs1361910224 0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu) rs370097699 0.00001
NM_003079.5(SMARCE1):c.1042G>A (p.Glu348Lys) rs754993965 0.00001
NM_003079.5(SMARCE1):c.1082C>T (p.Thr361Met) rs766200637 0.00001
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn) rs746301638 0.00001
NM_003079.5(SMARCE1):c.1129A>G (p.Met377Val) rs781353760 0.00001
NM_003079.5(SMARCE1):c.1148G>A (p.Ser383Asn) rs1555605079 0.00001
NM_003079.5(SMARCE1):c.1159A>C (p.Thr387Pro) rs1270010378 0.00001
NM_003079.5(SMARCE1):c.1166C>T (p.Ser389Leu) rs376181802 0.00001
NM_003079.5(SMARCE1):c.1213C>G (p.Pro405Ala) rs767835921 0.00001
NM_003079.5(SMARCE1):c.238-15T>A rs766494520 0.00001
NM_003079.5(SMARCE1):c.562A>G (p.Met188Val) rs765003978 0.00001
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr) rs1395650269 0.00001
NM_003079.5(SMARCE1):c.932C>T (p.Ala311Val) rs768536854 0.00001
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys) rs769672368 0.00001
NM_003079.5(SMARCE1):c.943C>G (p.Gln315Glu) rs1597742452 0.00001
NM_003079.5(SMARCE1):c.947G>A (p.Ser316Asn) rs1307734637 0.00001
NM_003079.5(SMARCE1):c.958C>T (p.Pro320Ser) rs1176390337 0.00001
NM_003977.4(AIP):c.104C>T (p.Thr35Met) rs376797001 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.116G>A (p.Arg39Gln) rs139947406 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.319A>G (p.Asn107Asp) rs758681469 0.00001
NM_003977.4(AIP):c.326C>T (p.Ala109Val) rs548910485 0.00001
NM_003977.4(AIP):c.356G>A (p.Arg119Gln) rs746414951 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.532G>A (p.Ala178Thr) rs762351007 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys) rs780149133 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 0.00001
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys) rs778449586 0.00001
NM_017841.4(SDHAF2):c.145_147del (p.Glu49del) rs749431351 0.00001
NM_017841.4(SDHAF2):c.194C>T (p.Thr65Ile) rs752462796 0.00001
NM_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.286C>T (p.His96Tyr) rs755605816 0.00001
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200 0.00001
NM_017841.4(SDHAF2):c.370+3A>G rs773940746 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys) rs367574730 0.00001
NM_017841.4(SDHAF2):c.451C>G (p.Gln151Glu) rs370174263 0.00001
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly) rs1056273933 0.00001
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His) rs768048172 0.00001
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser) rs952830677 0.00001
NM_022124.6(CDH23):c.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.2177-2A>G rs1377982927 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.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 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.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter) rs1375264465 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 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_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1142C>T (p.Ala381Val)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu) rs766974263
NM_000268.4(NF2):c.1271G>C (p.Arg424Pro)
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1507G>T (p.Asp503Tyr)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)
NM_000268.4(NF2):c.1575-24T>A
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
NM_000268.4(NF2):c.1585A>G (p.Met529Val) rs1456599218
NM_000268.4(NF2):c.1600C>T (p.His534Tyr) rs769370159
NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.1712G>T (p.Ser571Ile)
NM_000268.4(NF2):c.1729A>G (p.Ile577Val)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.35G>C (p.Ser12Thr)
NM_000268.4(NF2):c.376A>G (p.Ile126Val) rs780483061
NM_000268.4(NF2):c.388A>G (p.Lys130Glu)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.447+166T>G
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
NM_000268.4(NF2):c.463C>G (p.Pro155Ala) rs2066246942
NM_000268.4(NF2):c.469G>C (p.Val157Leu)
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp) rs1325902176
NM_000268.4(NF2):c.55C>T (p.Pro19Ser) rs1477242482
NM_000268.4(NF2):c.593G>A (p.Arg198Gln) rs2146973900
NM_000268.4(NF2):c.599+1G>C
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.675+172G>T
NM_000268.4(NF2):c.675+182A>G
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.754C>G (p.Pro252Ala) rs2066469878
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
NM_000268.4(NF2):c.99G>A (p.Met33Ile)
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly) rs200131173
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
NM_003072.5(SMARCA4):c.1078G>A (p.Gly360Ser)
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro) rs1599929325
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val) rs540717794
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln) rs375884151
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly) rs1555750818
NM_003072.5(SMARCA4):c.1223G>A (p.Arg408Lys) rs2145849759
NM_003072.5(SMARCA4):c.122G>T (p.Ser41Ile)
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val) rs1060502081
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu) rs375812959
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr) rs2086530559
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His) rs367601832
NM_003072.5(SMARCA4):c.1354A>G (p.Ile452Val) rs2086535406
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met) rs1265247876
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val) rs1600068270
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His) rs1441370371
NM_003072.5(SMARCA4):c.1726G>T (p.Val576Phe) rs1555763737
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr) rs1369374541
NM_003072.5(SMARCA4):c.1749AAAGAA[1] (p.Lys587_Lys588del) rs1600082918
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs) rs2087041072
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del) rs1429065030
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
NM_003072.5(SMARCA4):c.1775C>T (p.Ala592Val) rs1060502064
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del) rs1484395538
NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val) rs1600132436
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) rs1555768365
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp) rs772356536
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
NM_003072.5(SMARCA4):c.2030C>G (p.Ala677Gly)
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu) rs878854203
NM_003072.5(SMARCA4):c.2057AGA[3] (p.Lys689del) rs765524239
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu) rs751565055
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
NM_003072.5(SMARCA4):c.208C>G (p.His70Asp) rs1266506498
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
NM_003072.5(SMARCA4):c.2216C>T (p.Thr739Ile)
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr) rs1555751949
NM_003072.5(SMARCA4):c.237G>A (p.Met79Ile)
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg) rs2145748661
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys) rs779627018
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile) rs1568493644
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg) rs1060502074
NM_003072.5(SMARCA4):c.3159G>T (p.Gln1053His)
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val) rs773526113
NM_003072.5(SMARCA4):c.3216-346C>T
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln) rs1568498301
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr) rs1175163671
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys) rs200007170
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu) rs1555752859
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His) rs1060502060
NM_003072.5(SMARCA4):c.3774+2T>G
NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val) rs2145771699
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln) rs746219091
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
NM_003072.5(SMARCA4):c.3862C>T (p.Pro1288Ser)
NM_003072.5(SMARCA4):c.3865C>T (p.Pro1289Ser) rs1356762692
NM_003072.5(SMARCA4):c.389C>T (p.Ala130Val)
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
NM_003072.5(SMARCA4):c.3926A>G (p.His1309Arg) rs1158845896
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His) rs2075174391
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys) rs199962502
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
NM_003072.5(SMARCA4):c.4220del (p.Lys1407fs)
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser) rs891010465
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys) rs864622722
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr) rs1377505488
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu) rs878854227
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) rs1555795063
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His) rs1600635111
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.4672A>G (p.Thr1558Ala) rs1060502083
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu) rs374983142
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val) rs2145775018
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro) rs1555796035
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln) rs878854233
NM_003072.5(SMARCA4):c.4910_4911+1del rs745740277
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
NM_003072.5(SMARCA4):c.521A>G (p.Gln174Arg)
NM_003072.5(SMARCA4):c.553A>G (p.Met185Val) rs1568422504
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val) rs1599951271
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro) rs1057422480
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10]) rs372601826
NM_003072.5(SMARCA4):c.696_731del (p.229GP[2]) rs1599952392
NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp) rs1240479086
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala) rs1060502057
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro) rs1599927930
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp) rs746986969
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del) rs1555754225
NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu) rs2145796622
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser) rs199573401
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu) rs1026742588
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile) rs748459210
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu) rs762139955
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=) rs371214843
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile) rs1568426962
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile) rs1555755082
NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr) rs1013942482
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro) rs1597741316
NM_003079.5(SMARCE1):c.1054G>C (p.Glu352Gln)
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del) rs765354113
NM_003079.5(SMARCE1):c.1075G>T (p.Glu359Ter)
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg) rs976928947
NM_003079.5(SMARCE1):c.1088C>T (p.Thr363Ile)
NM_003079.5(SMARCE1):c.1117G>A (p.Gly373Arg) rs2037061907
NM_003079.5(SMARCE1):c.1177A>G (p.Ser393Gly) rs775907713
NM_003079.5(SMARCE1):c.1180G>A (p.Ala394Thr) rs1597741198
NM_003079.5(SMARCE1):c.1186G>A (p.Val396Met)
NM_003079.5(SMARCE1):c.151G>T (p.Val51Phe)
NM_003079.5(SMARCE1):c.175A>T (p.Ile59Phe) rs2143999589
NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp) rs372964610
NM_003079.5(SMARCE1):c.665C>G (p.Ala222Gly)
NM_003079.5(SMARCE1):c.748G>A (p.Glu250Lys)
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys) rs562702157
NM_003079.5(SMARCE1):c.893A>G (p.Lys298Arg) rs956654252
NM_003079.5(SMARCE1):c.913_915del (p.Lys305del) rs770456331
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs) rs2144009190
NM_003079.5(SMARCE1):c.938G>T (p.Arg313Leu) rs201577008
NM_003079.5(SMARCE1):c.944A>G (p.Gln315Arg) rs1444576393
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.139G>A (p.Gly47Ser) rs1462297112
NM_003977.4(AIP):c.13A>G (p.Ile5Val)
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.236C>T (p.Thr79Ile)
NM_003977.4(AIP):c.238A>C (p.Met80Leu) rs1397533476
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.362G>T (p.Cys121Phe)
NM_003977.4(AIP):c.419C>A (p.Ala140Asp)
NM_003977.4(AIP):c.433C>G (p.Pro145Ala) rs1865853260
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.539C>A (p.Pro180Gln)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.844dup (p.Gln282fs)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.1082T>G (p.Ile361Ser)
NM_016169.4(SUFU):c.1157+1del
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.1333G>A (p.Glu445Lys)
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1]) rs1426839991
NM_016169.4(SUFU):c.56G>T (p.Gly19Val)
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.598-83G>A
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg)
NM_016169.4(SUFU):c.657C>G (p.Ile219Met)
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.83C>T (p.Ser28Leu)
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.944G>C (p.Gly315Ala)
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu) rs371977724
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly) rs1862011610
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.235A>G (p.Met79Val) rs781702725
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.4(SDHAF2):c.267del (p.Phe89fs) rs766035180
NM_017841.4(SDHAF2):c.29C>T (p.Ser10Leu) rs1590759653
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.32C>G (p.Ser11Trp) rs148425779
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.359A>G (p.Tyr120Cys) rs772928706
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
NM_017841.4(SDHAF2):c.371-4G>C
NM_017841.4(SDHAF2):c.382G>C (p.Ala128Pro) rs1006514566
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
NM_017841.4(SDHAF2):c.406del (p.Val136fs)
NM_017841.4(SDHAF2):c.437A>G (p.Asn146Ser) rs2134902041
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1112_1115del (p.Ile371fs)
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) rs1862873659
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
NM_022124.6(CDH23):c.1450-2A>G
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.1579C>T (p.Gln527Ter)
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1744_1745dup (p.Leu583fs)
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.1859-2A>G
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
NM_022124.6(CDH23):c.1987-1G>T
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2289+1G>C
NM_022124.6(CDH23):c.2295del (p.Asn765fs)
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter) rs1589344004
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
NM_022124.6(CDH23):c.2397+1G>A
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
NM_022124.6(CDH23):c.2587+1G>A
NM_022124.6(CDH23):c.2587+1G>C
NM_022124.6(CDH23):c.2733+1G>C
NM_022124.6(CDH23):c.2752G>A (p.Asp918Asn)
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
NM_022124.6(CDH23):c.288+2T>C
NM_022124.6(CDH23):c.2922del (p.Lys975fs) rs1338446830
NM_022124.6(CDH23):c.2953+1G>A
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
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.3720_3733del (p.Asp1240fs)
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3820del (p.Glu1274fs)
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.39G>A (p.Trp13Ter)
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4101_4104+3del
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4207-2A>G
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4210-1G>A rs1166948274
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
NM_022124.6(CDH23):c.4360del
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
NM_022124.6(CDH23):c.4488+2T>A
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser) rs775013186
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5188-1G>A
NM_022124.6(CDH23):c.522del (p.Ser175fs)
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
NM_022124.6(CDH23):c.5502+2T>G
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
NM_022124.6(CDH23):c.562dup (p.Thr188fs) rs1857435780
NM_022124.6(CDH23):c.5667del (p.Asn1889fs)
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5820+2T>C
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.5907G>A (p.Met1969Ile)
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
NM_022124.6(CDH23):c.5986G>A (p.Ala1996Thr)
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6050-2A>G
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.624+1G>A
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
NM_022124.6(CDH23):c.6517G>T (p.Glu2173Ter)
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
NM_022124.6(CDH23):c.67+1G>A
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.6987del (p.Leu2330fs)
NM_022124.6(CDH23):c.7003del (p.Leu2335fs) rs1379171478
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
NM_022124.6(CDH23):c.7054+1G>A rs1057524265
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7224+1G>T
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
NM_022124.6(CDH23):c.739G>T (p.Glu247Ter)
NM_022124.6(CDH23):c.7483-1G>A
NM_022124.6(CDH23):c.753+1G>A rs1857755312
NM_022124.6(CDH23):c.754-2A>G rs2132400338
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
NM_022124.6(CDH23):c.7661-1G>C
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr) rs373294595
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
NM_022124.6(CDH23):c.7872+1G>C
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) rs1221464948
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs) rs2132984089
NM_022124.6(CDH23):c.8064+1G>T rs1474524543
NM_022124.6(CDH23):c.8160_8161del (p.Leu2721fs)
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.8309-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
NM_022124.6(CDH23):c.856del (p.Leu286fs) rs2132514996
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) rs767343063
NM_022124.6(CDH23):c.8722+1G>A
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
NM_022124.6(CDH23):c.8877del (p.Ile2959fs)
NM_022124.6(CDH23):c.9077+2T>C
NM_022124.6(CDH23):c.9078-2A>C
NM_022124.6(CDH23):c.9078-2A>G
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
NM_022124.6(CDH23):c.9127del (p.Arg3043fs)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9375del (p.Phe3125fs)
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_022124.6(CDH23):c.9691C>T (p.Gln3231Ter) rs1332428012
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.9738+1G>T
NM_022124.6(CDH23):c.995C>A (p.Thr332Lys) rs376301184

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