ClinVar Miner

List of variants reported as likely pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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ClinVar version:
Total variants: 1022
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_019616.4(F7):c.854G>A (p.Arg285His) rs121964929 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_001349206.2(LPIN1):c.1807-2A>G rs533651991 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs) rs745806762 0.00007
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000374.5(UROD):c.199G>T (p.Glu67Ter) rs763086647 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp) rs149827237 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001370298.3(FGD4):c.1402del (p.Gln468fs) rs1393673267 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter) rs780540757 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000140.5(FECH):c.913G>T (p.Val305Phe) rs765518889 0.00002
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348 0.00002
NM_000504.4(F10):c.1247A>T (p.Gln416Leu) rs759544193 0.00002
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter) rs1335308693 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) rs72659306 0.00001
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000151.4(G6PC1):c.757del (p.Ile253fs) rs2056092619 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu) rs80222298 0.00001
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu) rs74462743 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000298.6(PKLR):c.1116+23T>G rs777806779 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000374.5(UROD):c.424C>T (p.Arg142Ter) rs780227281 0.00001
NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs) rs1555534430 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter) rs1295295164 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) rs1190061000 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys) rs758087836 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_000508.3(FGA):c.112A>G (p.Arg38Gly) rs121909608 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro) rs1275707003 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001040108.2(MLH3):c.3643+2T>C rs1555343301 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg) rs1225539653 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser) rs200832275 0.00001
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002693.3(POLG):c.1816dup (p.Thr606fs) rs1319481399 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter) rs777220438 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005876.5(SPEG):c.6011del (p.Ser2004fs) rs1392086265 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter) rs771533907 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_015214.3(DDHD2):c.400C>T (p.Gln134Ter) rs772199158 0.00001
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln) rs1443463485 0.00001
NM_017837.4(PIGV):c.55C>T (p.Arg19Cys) rs759988046 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter) rs944560685 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter) rs1463651673 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_053013.4(ENO3):c.157del (p.Asp53fs) rs760194274 0.00001
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309 0.00001
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) rs374840594 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.250G>A (p.Val84Met) rs867069017 0.00001
NM_198253.3(TERT):c.2639C>T (p.Ala880Val) rs1748613384 0.00001
G6PD NARA rs587776730
NM_000018.4(ACADVL):c.1078-1G>C
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly) rs1085307405
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.795del (p.Asp266fs) rs1438874821
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter)
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000037.4(ANK1):c.1411C>T (p.Gln471Ter)
NM_000037.4(ANK1):c.1412del (p.Gln471fs) rs2150635565
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1880C>G (p.Ser627Ter)
NM_000037.4(ANK1):c.2014del (p.Leu672fs) rs2150616471
NM_000037.4(ANK1):c.2267del (p.Asn756fs)
NM_000037.4(ANK1):c.2407C>T (p.Arg803Ter)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.3186C>G (p.Tyr1062Ter) rs1247598917
NM_000037.4(ANK1):c.3188del (p.Phe1063fs) rs2150593448
NM_000037.4(ANK1):c.3235G>T (p.Glu1079Ter) rs368279119
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) rs2150592257
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4694del (p.Asp1565fs) rs2150563288
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4977del (p.Thr1660fs)
NM_000037.4(ANK1):c.5218G>T (p.Glu1740Ter)
NM_000037.4(ANK1):c.533del (p.His178fs)
NM_000037.4(ANK1):c.5401G>T (p.Glu1801Ter)
NM_000037.4(ANK1):c.682del (p.Arg228fs)
NM_000037.4(ANK1):c.911_912del (p.Asn304fs) rs2150644706
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.2186del (p.Leu729fs) rs2149862736
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2260del (p.Val754fs) rs2149864798
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) rs863225336
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) rs863225339
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) rs863225342
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs) rs1561586671
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs) rs1765732008
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.635_636dup (p.Arg213fs) rs1561485947
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.2188dup (p.Asp730fs) rs1958503241
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) rs2139531503
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3030G>C (p.Lys1010Asn)
NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp) rs2138958110
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn) rs2138663905
NM_000053.4(ATP7B):c.3743del (p.Lys1248fs)
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs)
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter) rs2073049381
NM_000064.4(C3):c.600-1G>T
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000088.4(COL1A1):c.1219G>A (p.Gly407Ser)
NM_000088.4(COL1A1):c.696+1G>C
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) rs72645355
NM_000089.4(COL1A2):c.1349_1350+2del rs2115899670
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser) rs1269193853
NM_000090.4(COL3A1):c.2092_2098delinsACTGTT (p.Ala698fs)
NM_000090.4(COL3A1):c.2104G>C (p.Gly702Arg) rs2153503006
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del) rs2153503227
NM_000090.4(COL3A1):c.2491G>C (p.Gly831Arg) rs2153503377
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) rs2153501733
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) rs2153501864
NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)
NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
NM_000093.5(COL5A1):c.655-1G>C rs1554787526
NM_000098.3(CPT2):c.1119_1120del (p.Trp374fs) rs2100273567
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter) rs1645411052
NM_000128.4(F11):c.1480+1G>T
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000129.4(F13A1):c.826C>T (p.Leu276Phe)
NM_000132.4(F8):c.*56G>T rs2072483147
NM_000132.4(F8):c.1327_1339del (p.Lys443fs)
NM_000132.4(F8):c.1331A>C (p.Lys444Thr)
NM_000132.4(F8):c.1462G>C (p.Ala488Pro)
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys)
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu)
NM_000132.4(F8):c.602-11T>C
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp) rs2148583736
NM_000132.4(F8):c.6326G>C (p.Arg2109Pro)
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.478G>C (p.Gly160Arg) rs1927768022
NM_000135.4(FANCA):c.443del (p.Leu148fs)
NM_000137.4(FAH):c.314+1G>A rs1057516408
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
NM_000138.5(FBN1):c.2168A>G (p.Asp723Gly) rs137854463
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr) rs193922193
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser) rs2141295239
NM_000138.5(FBN1):c.4211-2A>C
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.5296+5G>A rs1566902515
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp) rs2043140093
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000140.5(FECH):c.913-2A>G
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000155.4(GALT):c.1014C>T (p.Gly338=) rs111033811
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.434_435del (p.Pro145fs)
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn) rs2148069969
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000178.4(GSS):c.533del (p.Lys178fs) rs2081485010
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter) rs1432436629
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1312dup (p.Met438fs) rs863225399
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter) rs1553413470
NM_000179.3(MSH6):c.260+2T>A rs1553408469
NM_000179.3(MSH6):c.260+3A>G rs1553408474
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs) rs863225403
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs) rs863225409
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter) rs2147762308
NM_000186.4(CFH):c.158G>A (p.Arg53His)
NM_000186.4(CFH):c.1927G>T (p.Glu643Ter) rs867229260
NM_000186.4(CFH):c.2057-1G>A rs1050115425
NM_000186.4(CFH):c.3322A>T (p.Lys1108Ter) rs2149117986
NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly) rs575109631
NM_000186.4(CFH):c.3414_3421del (p.Gln1139fs) rs2149118044
NM_000186.4(CFH):c.3493+1G>A rs1387205085
NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly) rs2149118730
NM_000186.4(CFH):c.3646ACA[1] (p.Thr1217del)
NM_000186.4(CFH):c.694C>T (p.Arg232Ter) rs755790570
NM_000186.4(CFH):c.740del (p.Gly247fs) rs2149082076
NM_000187.4(HGD):c.532G>T (p.Glu178Ter) rs1941184654
NM_000190.4(HMBS):c.71G>A (p.Gly24Asp)
NM_000190.4(HMBS):c.754G>C (p.Ala252Pro) rs118204113
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)
NM_000190.4(HMBS):c.940_941del (p.Gln314fs) rs1407093112
NM_000204.5(CFI):c.111dup (p.Tyr38fs)
NM_000204.5(CFI):c.1149-2A>T rs1352826089
NM_000204.5(CFI):c.1384C>T (p.Gln462Ter)
NM_000204.5(CFI):c.1650_1651del (p.Cys550fs) rs774728696
NM_000204.5(CFI):c.57+1G>C rs1425827135
NM_000214.3(JAG1):c.1499dup (p.His501fs)
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.387+1G>T
NM_000215.4(JAK3):c.1915-1G>A
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp) rs199472765
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly) rs199472750
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.974G>A (p.Gly325Glu) rs794728519
NM_000219.6(KCNE1):c.20_23dup (p.Val9fs) rs2123459914
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) rs199472939
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.2146-1G>A rs2116950992
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) rs794728411
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs) rs1389503709
NM_000249.4(MLH1):c.1032del (p.Phe344fs) rs1553648225
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr) rs63750580
NM_000249.4(MLH1):c.1258del (p.Ser420fs) rs863225373
NM_000249.4(MLH1):c.1558+1G>A rs267607832
NM_000249.4(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.4(MLH1):c.1719del (p.Leu574fs) rs863225377
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer) rs863225379
NM_000249.4(MLH1):c.1860dup (p.Met621fs) rs863225380
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.4(MLH1):c.1990-2A>G rs267607883
NM_000249.4(MLH1):c.2059del (p.Arg687fs) rs863225381
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.4(MLH1):c.673dup (p.Ser225fs) rs1575469505
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1090del (p.Glu364fs) rs863225385
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter) rs863225386
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1302del (p.Val435fs) rs863225389
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs) rs863225391
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2004T>A (p.Thr668=) rs1553368731
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter) rs863225393
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter) rs863225396
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr) rs1555337916
NM_000262.3(NAGA):c.418C>T (p.Gln140Ter) rs776149537
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) rs1555633361
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter) rs61752099
NM_000289.6(PFKM):c.1596del (p.Asn532fs) rs2136009658
NM_000289.6(PFKM):c.926A>G (p.Asp309Gly)
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1676G>C (p.Arg559Pro)
NM_000298.6(PKLR):c.957del (p.Gly319_Val320insTer) rs2148204773
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691
NM_000308.4(CTSA):c.1035C>G (p.Tyr345Ter) rs200636455
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.1298G>A (p.Gly433Asp)
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000313.4(PROS1):c.121C>T (p.Arg41Cys)
NM_000313.4(PROS1):c.1954G>T (p.Asp652Tyr)
NM_000313.4(PROS1):c.199G>A (p.Glu67Lys)
NM_000313.4(PROS1):c.329dup (p.Arg111fs)
NM_000313.4(PROS1):c.461G>A (p.Cys154Tyr)
NM_000313.4(PROS1):c.492del (p.Ser165fs)
NM_000313.4(PROS1):c.849+1G>C
NM_000314.8(PTEN):c.309del (p.Cys105fs) rs1554898088
NM_000314.8(PTEN):c.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.528T>G (p.Tyr176Ter) rs1057522285
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) rs199473096
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1010del (p.Pro337fs)
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1058dup (p.Pro354fs) rs2144615077
NM_000342.4(SLC4A1):c.1067_1068insT (p.Ser357fs)
NM_000342.4(SLC4A1):c.1180del (p.Tyr393_Leu394insTer) rs2144614196
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter) rs2144612096
NM_000342.4(SLC4A1):c.1626+1G>T rs1192674860
NM_000342.4(SLC4A1):c.1659T>A (p.Tyr553Ter)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2284A>C (p.Ser762Arg)
NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile) rs2047357659
NM_000342.4(SLC4A1):c.2384del (p.Met795fs)
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.515del (p.Gly172fs)
NM_000342.4(SLC4A1):c.556C>T (p.Gln186Ter)
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter)
NM_000368.5(TSC1):c.1141+1G>T rs397514819
NM_000368.5(TSC1):c.1192del (p.Ala398fs) rs2131943928
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000374.5(UROD):c.399_401delinsCCA (p.Val134Gln) rs2148982736
NM_000374.5(UROD):c.921dup (p.Cys308fs) rs2148983625
NM_000377.3(WAS):c.244T>C (p.Ser82Pro) rs132630272
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) rs2062426981
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs) rs1555534434
NM_000388.4(CASR):c.1970C>A (p.Ser657Tyr)
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000414.4(HSD17B4):c.270del (p.Phe90fs) rs1276397342
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs) rs1057516672
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys) rs1253499013
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) rs786202134
NM_000466.3(PEX1):c.2724dup (p.Glu909fs) rs1554369227
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)
NM_000488.4(SERPINC1):c.373G>T (p.Gly125Cys)
NM_000492.4(CFTR):c.1117-1G>T
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp) rs397508208
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs) rs1301983423
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro) rs771259493
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3392_3396dup (p.Thr1134fs)
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3873+1G>T rs143570767
NM_000492.4(CFTR):c.743+1G>C rs397508791
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.865A>T (p.Asn289Tyr)
NM_000518.5(HBB):c.389_401del (p.Ala130fs)
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter) rs2147283349
NM_000527.5(LDLR):c.2547+1G>A rs879255224
NM_000527.5(LDLR):c.313+3A>C rs1064793799
NM_000527.5(LDLR):c.667_681del (p.Lys223_Asp227del) rs2147225532
NM_000530.8(MPZ):c.130_137del (p.Ser44fs) rs1571820186
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1452del (p.Thr485fs)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile) rs118192155
NM_000546.6(TP53):c.116_117del (p.Ala39fs) rs1555526793
NM_000546.6(TP53):c.400_401insG (p.Phe134fs) rs1555526286
NM_000546.6(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.469_476del (p.Val157fs) rs1555526137
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.6(TP53):c.970del (p.Asp324fs) rs1555524970
NM_000548.5(TSC2):c.1152_1162del (p.His385fs)
NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.351G>A (p.Trp117Ter)
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly) rs2136412301
NM_000552.5(VWF):c.6578G>A (p.Trp2193Ter)
NM_000552.5(VWF):c.7057G>A (p.Glu2353Lys)
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.959-61_965dup rs1553185268
NM_000760.4(CSF3R):c.1537_1552del (p.Gly513fs) rs2124107312
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_001002010.5(NT5C3A):c.693+1G>A
NM_001005273.3(CHD3):c.3603_3614del (p.Met1202_Thr1205del) rs1555612691
NM_001008212.2(OPTN):c.375del (p.Thr126fs)
NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)
NM_001009944.3(PKD1):c.604G>T (p.Glu202Ter)
NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) rs73095427
NM_001022.4(RPS19):c.166C>G (p.Arg56Gly)
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001033855.3(DCLRE1C):c.1670_1671del (p.Thr557fs) rs1834759683
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu) rs1660038687
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs) rs745657036
NM_001040436.3(YARS2):c.201dup (p.Gly68fs) rs1555137047
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.3870+1G>C rs1131691075
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs)
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs)
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer)
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042702.5(PJVK):c.124C>T (p.Arg42Ter)
NM_001081.4(CUBN):c.3829+1G>A
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs) rs747870811
NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)
NM_001103.4(ACTN2):c.1167_1169delinsA (p.Leu390fs) rs2102927408
NM_001110792.2(MECP2):c.440A>C (p.Lys147Thr)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001114134.2(EPB42):c.293_300dup (p.Ser101fs) rs1215949434
NM_001114134.2(EPB42):c.619_628del (p.Gln207fs) rs2142297728
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.338+2dup rs2101851488
NM_001130987.2(DYSF):c.3085+1G>A rs1553555585
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) rs2135121046
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) rs2135041646
NM_001134407.3(GRIN2A):c.1497+1G>T rs2141344569
NM_001142864.4(PIEZO1):c.1450_1453del (p.Trp484fs)
NM_001142864.4(PIEZO1):c.1536del (p.Cys513fs)
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.2748G>A (p.Trp916Ter)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6132G>A (p.Trp2044Ter)
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln)
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001166114.2(PNPLA6):c.2936+2T>G
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001199563.2(BVES):c.427A>T (p.Arg143Ter) rs1773614673
NM_001199563.2(BVES):c.602C>G (p.Ser201Cys) rs869025337
NM_001206927.2(DNAH8):c.4736G>A (p.Trp1579Ter)
NM_001206979.2(NR1H4):c.91G>T (p.Glu31Ter) rs753528227
NM_001242.5(CD27):c.406_407del (p.Leu136fs) rs1949504456
NM_001242896.3(DEPDC5):c.1780C>T (p.Gln594Ter)
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001258392.3(CLPB):c.874-2A>G
NM_001267550.2(TTN):c.46814dup (p.Asn15605fs)
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter) rs794729261
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter) rs2056504499
NM_001267550.2(TTN):c.53836dup (p.Ser17946fs) rs2154195584
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs) rs2154185712
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs) rs2154182483
NM_001267550.2(TTN):c.64680del (p.Gly21561fs)
NM_001267550.2(TTN):c.67279del (p.Arg22427fs) rs2154175979
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79519_79520del (p.Ala26507fs)
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.89553del (p.Ala29853fs) rs1575529262
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
NM_001292063.2(OTOG):c.432del (p.Gln145fs) rs1393191930
NM_001303.4(COX10):c.688C>T (p.Gln230Ter) rs1425392070
NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter) rs1562050885
NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys) rs1562045237
NM_001330260.2(SCN8A):c.4585A>G (p.Met1529Val) rs2138919124
NM_001355436.2(SPTB):c.1396dup (p.Ala466fs) rs2139603257
NM_001355436.2(SPTB):c.1625_1632dup (p.Asp545fs)
NM_001355436.2(SPTB):c.1932G>A (p.Trp644Ter) rs2139596180
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.2024del (p.Leu675fs)
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.2237del (p.Phe746fs)
NM_001355436.2(SPTB):c.3838del (p.Leu1280fs) rs2139560751
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) rs2139555500
NM_001355436.2(SPTB):c.3980_3983delinsCCAGAGAACATGAA (p.Gly1327fs) rs2139555125
NM_001355436.2(SPTB):c.4346del (p.Gly1449fs)
NM_001355436.2(SPTB):c.4373dup (p.Arg1459fs)
NM_001355436.2(SPTB):c.4474-1G>A rs1311265074
NM_001355436.2(SPTB):c.4615C>T (p.Gln1539Ter)
NM_001355436.2(SPTB):c.4687C>T (p.Gln1563Ter)
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.4894_4906dup (p.Tyr1636fs)
NM_001355436.2(SPTB):c.4924C>T (p.Gln1642Ter)
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5016dup (p.Ala1673fs)
NM_001355436.2(SPTB):c.542T>A (p.Leu181Ter) rs2139632228
NM_001355436.2(SPTB):c.5692C>T (p.Gln1898Ter) rs1398484902
NM_001355436.2(SPTB):c.5949del (p.Lys1983fs)
NM_001355436.2(SPTB):c.5994G>A (p.Trp1998Ter)
NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs)
NM_001355436.2(SPTB):c.724G>T (p.Glu242Ter) rs2139628367
NM_001355436.2(SPTB):c.742dup (p.Ile248fs) rs2139628261
NM_001355436.2(SPTB):c.983_984del (p.Arg328fs)
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala) rs2148328852
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) rs2148330566
NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)
NM_001365276.2(TNXB):c.1680del (p.Gly562fs)
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter) rs1307972506
NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)
NM_001371596.2(MFSD8):c.1021del (p.Leu341fs) rs1736400607
NM_001371623.1(TCOF1):c.37del (p.Pro12_Leu13insTer)
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer) rs1553158517
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001376013.1(EPB41):c.628A>G (p.Met210Val) rs1557948192
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
NM_001406838.1(KCNQ1):c.478-12807_478-12805del rs2133726899
NM_001458.5(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001478.5(B4GALNT1):c.713-1G>A
NM_001698.3(AUH):c.150G>A (p.Trp50Ter) rs1587943560
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001875.5(CPS1):c.1981+1G>C
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001953.5(TYMP):c.1301-2_1305del rs2148676442
NM_001972.4(ELANE):c.254G>A (p.Gly85Glu) rs2145145006
NM_001972.4(ELANE):c.457G>C (p.Ala153Pro)
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_002049.4(GATA1):c.220+2T>C
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002113.3(CFHR1):c.887C>T (p.Ala296Val) rs16840561
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro) rs1553387422
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002633.3(PGM1):c.1144+3A>T
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs) rs2147747770
NM_002641.4(PIGA):c.1189-2_1189-1del
NM_002641.4(PIGA):c.236G>A (p.Gly79Asp) rs2147723922
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003002.4(SDHD):c.186_189dup (p.Leu64fs)
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser) rs141269120
NM_003052.5(SLC34A1):c.1007-1G>A
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
NM_003126.4(SPTA1):c.1350+1G>C
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.173del (p.Phe58fs)
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter)
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg) rs2101904247
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter) rs2101900643
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter) rs2101892539
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) rs539524312
NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter) rs2101868872
NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
NM_003126.4(SPTA1):c.390+1G>A rs2101951549
NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs) rs2101829513
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup) rs749754226
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter) rs2101819646
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs) rs2101760572
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) rs767854151
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740
NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
NM_003126.4(SPTA1):c.6788+1G>A
NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)
NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs) rs2101741276
NM_003126.4(SPTA1):c.7199del (p.Gly2400fs)
NM_003126.4(SPTA1):c.957+1G>A rs373407146
NM_003126.4(SPTA1):c.958-1G>T
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
NM_003647.3(DGKE):c.1057del (p.Gln353fs)
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter) rs1556876346
NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter) rs863224234
NM_004115.4(FGF14):c.564del (p.Thr190fs) rs2035456443
NM_004333.6(BRAF):c.1402T>C (p.Phe468Leu) rs2129023598
NM_004341.5(CAD):c.1070_1071del (p.Val357fs) rs1572426165
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
NM_004370.6(COL12A1):c.4000+1G>A rs2149416563
NM_004415.4(DSP):c.5497G>T (p.Glu1833Ter) rs1294492338
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004563.4(PCK2):c.451_452dup (p.Met152fs) rs1555341463
NM_004563.4(PCK2):c.457del (p.Gln153fs) rs1555341473
NM_004563.4(PCK2):c.459_460insA (p.Gly154fs) rs1555341483
NM_004656.4(BAP1):c.1117-1G>A
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs) rs2129629942
NM_004999.4(MYO6):c.2417-1G>A
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005141.4(FGB):c.130C>T (p.Arg44Cys) rs121909616
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005247.4(FGF3):c.45del (p.Trp16fs)
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)
NM_005585.5(SMAD6):c.263del (p.Gly88fs) rs1199495614
NM_005619.5(RTN2):c.1154del (p.Leu385fs)
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006073.4(TRDN):c.502del (p.Glu168fs)
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe) rs763922486
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter) rs2139960687
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro) rs1554121453
NM_006846.4(SPINK5):c.2015+5G>A
NM_006941.4(SOX10):c.1236T>A (p.Tyr412Ter)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs) rs2052403348
NM_007327.4(GRIN1):c.2021A>T (p.Asn674Ile) rs2131299944
NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
NM_013335.4(GMPPA):c.138+1G>T
NM_013382.7(POMT2):c.1213_1228del (p.Phe405fs)
NM_014191.4(SCN8A):c.706+1G>A rs2138716241
NM_014334.4(FRRS1L):c.566del (p.Pro189fs) rs1831184766
NM_014363.6(SACS):c.9293del (p.Ile3098fs)
NM_014727.3(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151
NM_014874.4(MFN2):c.2177C>A (p.Ser726Ter)
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014946.4(SPAST):c.1088_1089insAT (p.Leu363_Arg364insTer) rs2148734605
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.897_900del (p.Lys300fs)
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs) rs1555753569
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_016239.4(MYO15A):c.484_488delinsACTT (p.Arg162fs)
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)
NM_017662.5(TRPM6):c.2323C>T (p.Gln775Ter)
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) rs753775062
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter)
NM_019616.4(F7):c.1057C>T (p.Arg353Trp)
NM_019616.4(F7):c.385T>C (p.Cys129Arg)
NM_019616.4(F7):c.739+1G>A
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_020435.4(GJC2):c.742C>T (p.Gln248Ter) rs1389799347
NM_020451.3(SELENON):c.184-2A>G rs2124437555
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020821.3(VPS13C):c.9244C>T (p.Gln3082Ter)
NM_020975.6(RET):c.1831T>A (p.Cys611Ser) rs377767391
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) rs1555446983
NM_021830.5(TWNK):c.68del (p.Gly23fs) rs2133934281
NM_021870.3(FGG):c.1019C>T (p.Thr340Ile)
NM_021870.3(FGG):c.1086G>A (p.Met362Ile) rs2110841438
NM_021870.3(FGG):c.1172A>T (p.Asn391Ile)
NM_021871.4(FGA):c.1452del (p.Ser485fs)
NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs) rs1553802038
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022436.3(ABCG5):c.634+1G>C rs370368811
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu) rs372350326
NM_024577.4(SH3TC2):c.2403_2404delinsAA (p.Cys801_Leu802delinsTer) rs2127397160
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025193.4(HSD3B7):c.1025del (p.Phe342fs)
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs) rs1555744039
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs) rs2122333654
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032119.4(ADGRV1):c.425dup (p.Asn142fs)
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln) rs867160952
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp) rs1559985057
NM_032638.5(GATA2):c.569_570insAAGC (p.Ala191fs)
NM_032638.5(GATA2):c.894_895del (p.Cys298fs)
NM_033198.4(PIGS):c.398del (p.Glu133fs)
NM_033305.3(VPS13A):c.882+2T>G
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg) rs104886073
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) rs121908638
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
NM_138694.4(PKHD1):c.8461del (p.Glu2821fs) rs2151160725
NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln) rs281875304
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)
NM_144997.7(FLCN):c.1176+2T>A rs2046947920
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.618+1G>A
NM_144997.7(FLCN):c.753G>A (p.Trp251Ter)
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs) rs2142429320
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
NM_172107.4(KCNQ2):c.927+1G>A rs1555870346
NM_172351.3(CD46):c.153del (p.Lys51fs) rs2102538157
NM_172351.3(CD46):c.469T>C (p.Cys157Arg) rs2102552865
NM_172351.3(CD46):c.97G>C (p.Asp33His) rs2102512645
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_182961.4(SYNE1):c.10549C>T (p.Gln3517Ter)
NM_182961.4(SYNE1):c.1418dup (p.Asn473fs) rs2154279887
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_183050.4(BCKDHB):c.212T>G (p.Met71Arg) rs2127726114
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr) rs1777825845
NM_198253.3(TERT):c.2147C>G (p.Ala716Gly)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_207111.4(RNF216):c.345_351del (p.Asn116fs)
Single allele

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