ClinVar Miner

List of variants studied for thyroid gland disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1000
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_203395.3(IYD):c.323A>G (p.Asn108Ser) rs111758467 0.01029
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser) rs553859355 0.00298
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) rs78201625 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) rs17855780 0.00106
NM_020975.6(RET):c.626-41G>A rs572623103 0.00098
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) rs138864377 0.00076
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_012188.5(FOXI1):c.231C>G (p.Pro77=) rs550209761 0.00051
NM_020975.6(RET):c.-2C>A rs876657980 0.00049
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_020975.6(RET):c.2939+13T>C rs149417158 0.00035
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_001555.5(IGSF1):c.1141A>C (p.Asn381His) rs6637826 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00029
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00028
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_020975.6(RET):c.2673G>A (p.Ser891=) rs201620214 0.00027
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_020975.6(RET):c.2654G>A (p.Gly885Glu) rs1010091281 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00021
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) rs145129881 0.00021
NM_177438.3(DICER1):c.4901T>C (p.Leu1634Ser) rs149723645 0.00021
NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp) rs587778231 0.00021
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) rs141573582 0.00020
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_001363711.2(DUOX2):c.3383G>A (p.Arg1128His) rs374614801 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333 0.00015
NM_020975.6(RET):c.2607+4C>T rs200634990 0.00015
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_020975.6(RET):c.1668C>G (p.Ser556=) rs141771814 0.00014
NM_020975.6(RET):c.3006C>T (p.Ser1002=) rs370970483 0.00014
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985 0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00012
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) rs150812908 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_020975.6(RET):c.1344C>G (p.Asn448Lys) rs549907428 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001206744.2(TPO):c.612G>A (p.Pro204=) rs3732349 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591 0.00009
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=) rs151068619 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_020975.6(RET):c.1596C>T (p.Gly532=) rs144460361 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_020975.6(RET):c.3156C>T (p.Leu1052=) rs191769748 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) rs577226533 0.00007
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00007
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_020975.6(RET):c.1182C>T (p.Asn394=) rs376465385 0.00007
NM_020975.6(RET):c.1371A>T (p.Ser457=) rs376464605 0.00007
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432 0.00007
NM_020975.6(RET):c.81G>A (p.Leu27=) rs369519655 0.00007
NM_020975.6(RET):c.82G>A (p.Gly28Ser) rs779905135 0.00007
NM_177438.3(DICER1):c.179C>T (p.Thr60Ile) rs587778228 0.00007
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys) rs199918362 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=) rs776805483 0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_020975.6(RET):c.1103G>A (p.Arg368His) rs199529397 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_020975.6(RET):c.1343A>G (p.Asn448Ser) rs760832715 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_020975.6(RET):c.2305C>T (p.Leu769=) rs142793711 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_020975.6(RET):c.2742A>G (p.Pro914=) rs375963128 0.00006
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn) rs763489828 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_020975.6(RET):c.736C>A (p.His246Asn) rs780756440 0.00006
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys) rs373646414 0.00006
NM_177438.3(DICER1):c.3674A>G (p.Tyr1225Cys) rs146584765 0.00006
NM_177438.3(DICER1):c.5738A>G (p.Lys1913Arg) rs752116341 0.00006
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_020975.6(RET):c.1363G>A (p.Val455Ile) rs145966037 0.00005
NM_020975.6(RET):c.1476C>G (p.Thr492=) rs758249079 0.00005
NM_020975.6(RET):c.3059C>T (p.Ala1020Val) rs372191563 0.00005
NM_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_020975.6(RET):c.73+17G>T rs763327195 0.00005
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=) rs770874403 0.00004
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter) rs749174434 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001363711.2(DUOX2):c.1265G>A (p.Arg422His) rs201135069 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) rs772348846 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976 0.00004
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) rs766560083 0.00004
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) rs145081333 0.00004
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu) rs201514086 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_020762.4(SRGAP1):c.2225-7G>A rs375559876 0.00004
NM_020975.6(RET):c.-37G>C rs751005619 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406 0.00004
NM_020975.6(RET):c.2124C>T (p.Ala708=) rs749646777 0.00004
NM_020975.6(RET):c.2290G>A (p.Ala764Thr) rs748799148 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser) rs34617196 0.00004
NM_020975.6(RET):c.2790G>A (p.Thr930=) rs746599792 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020975.6(RET):c.2932G>A (p.Glu978Lys) rs758800351 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser) rs775583354 0.00004
NM_020975.6(RET):c.718G>C (p.Val240Leu) rs375120544 0.00004
NM_020975.6(RET):c.79T>C (p.Leu27=) rs377160777 0.00004
NM_177438.3(DICER1):c.4949T>G (p.Phe1650Cys) rs760439905 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001354712.2(THRB):c.175A>G (p.Ile59Val) rs141172732 0.00003
NM_001363711.2(DUOX2):c.2921G>A (p.Arg974His) rs778216481 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.4396T>G (p.Tyr1466Asp) rs770412777 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) rs764737760 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1018G>T (p.Val340Phe) rs367737920 0.00003
NM_020975.6(RET):c.1063A>G (p.Arg355Gly) rs145402131 0.00003
NM_020975.6(RET):c.1312G>A (p.Val438Ile) rs774474422 0.00003
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) rs545625150 0.00003
NM_020975.6(RET):c.1737C>G (p.Asn579Lys) rs144455821 0.00003
NM_020975.6(RET):c.178C>T (p.Pro60Ser) rs748402485 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.1879+18G>A rs368088386 0.00003
NM_020975.6(RET):c.1897C>G (p.Leu633Val) rs267607010 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580 0.00003
NM_020975.6(RET):c.2284+15C>T rs768252806 0.00003
NM_020975.6(RET):c.2392+19T>C rs778745375 0.00003
NM_020975.6(RET):c.2452G>A (p.Glu818Lys) rs377767420 0.00003
NM_020975.6(RET):c.2542A>G (p.Met848Val) rs794728685 0.00003
NM_020975.6(RET):c.308A>G (p.His103Arg) rs375390467 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_020975.6(RET):c.31C>A (p.Leu11Met) rs587780812 0.00003
NM_020975.6(RET):c.897C>T (p.Phe299=) rs529153319 0.00003
NM_020975.6(RET):c.96G>A (p.Ser32=) rs139821724 0.00003
NM_020975.6(RET):c.977A>G (p.Gln326Arg) rs863224778 0.00003
NM_177438.3(DICER1):c.359A>T (p.Lys120Met) rs1060503608 0.00003
NM_000371.4(TTR):c.-3A>G rs745422404 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) rs747720952 0.00002
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) rs939420346 0.00002
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) rs374746230 0.00002
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361 0.00002
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_020975.6(RET):c.1016C>T (p.Ser339Leu) rs774829203 0.00002
NM_020975.6(RET):c.1084C>A (p.Leu362Ile) rs773935854 0.00002
NM_020975.6(RET):c.1253G>A (p.Arg418Gln) rs371731991 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1399G>C (p.Val467Leu) rs200334340 0.00002
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658 0.00002
NM_020975.6(RET):c.144G>A (p.Thr48=) rs759872307 0.00002
NM_020975.6(RET):c.1860C>T (p.Cys620=) rs79890926 0.00002
NM_020975.6(RET):c.2038G>A (p.Ala680Thr) rs184498773 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_020975.6(RET):c.2358T>C (p.His786=) rs758715544 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2423A>C (p.Lys808Thr) rs767945255 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_020975.6(RET):c.2488G>A (p.Gly830Arg) rs200127630 0.00002
NM_020975.6(RET):c.2497C>T (p.Arg833Cys) rs377767422 0.00002
NM_020975.6(RET):c.2755G>C (p.Ala919Pro) rs1361265737 0.00002
NM_020975.6(RET):c.304G>A (p.Asp102Asn) rs201244749 0.00002
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile) rs200021472 0.00002
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) rs149513065 0.00002
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) rs762952212 0.00002
NM_020975.6(RET):c.335G>A (p.Arg112His) rs587780814 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_020975.6(RET):c.488G>A (p.Arg163Gln) rs149403911 0.00002
NM_020975.6(RET):c.682G>C (p.Ala228Pro) rs760813493 0.00002
NM_020975.6(RET):c.723C>T (p.Ala241=) rs544252468 0.00002
NM_020975.6(RET):c.731C>T (p.Thr244Ile) rs145970248 0.00002
NM_020975.6(RET):c.825C>T (p.Gly275=) rs150797149 0.00002
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891 0.00002
NM_177438.3(DICER1):c.1377-18T>A rs1032236740 0.00002
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys) rs527568726 0.00002
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile) rs1454569806 0.00002
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr) rs370947079 0.00002
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.170T>C (p.Leu57Pro) rs200401152 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) rs11541800 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.200+4A>G rs751512499 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) rs1322942118 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=) rs552050976 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) rs121908082 0.00001
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) rs759809305 0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) rs774713681 0.00001
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter) rs368967911 0.00001
NM_001363711.2(DUOX2):c.1741C>T (p.Gln581Ter) rs778921174 0.00001
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00001
NM_001363711.2(DUOX2):c.3251G>A (p.Arg1084Gln) rs558919433 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_001363711.2(DUOX2):c.3967G>A (p.Ala1323Thr) rs550037603 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys) rs1648596230 0.00001
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232 0.00001
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695 0.00001
NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) rs36040296 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) rs769464065 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) rs776310516 0.00001
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_020975.6(RET):c.1051G>A (p.Val351Ile) rs777716061 0.00001
NM_020975.6(RET):c.1090A>G (p.Ile364Val) rs1308447836 0.00001
NM_020975.6(RET):c.1102C>T (p.Arg368Cys) rs754116867 0.00001
NM_020975.6(RET):c.1138G>A (p.Asp380Asn) rs1394361948 0.00001
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592 0.00001
NM_020975.6(RET):c.1165C>T (p.Leu389Phe) rs895556824 0.00001
NM_020975.6(RET):c.1234G>A (p.Val412Met) rs746970700 0.00001
NM_020975.6(RET):c.1263+19C>T rs371417381 0.00001
NM_020975.6(RET):c.129C>A (p.Asp43Glu) rs1488040686 0.00001
NM_020975.6(RET):c.138C>T (p.Ala46=) rs1177522214 0.00001
NM_020975.6(RET):c.1421G>A (p.Arg474Gln) rs747139265 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1493C>T (p.Ala498Val) rs375677628 0.00001
NM_020975.6(RET):c.1522T>C (p.Tyr508His) rs775152474 0.00001
NM_020975.6(RET):c.157G>A (p.Val53Ile) rs547308774 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_020975.6(RET):c.1649-7T>C rs758817204 0.00001
NM_020975.6(RET):c.1759C>T (p.Arg587Trp) rs748905470 0.00001
NM_020975.6(RET):c.1798C>T (p.Arg600Trp) rs745418960 0.00001
NM_020975.6(RET):c.1811C>T (p.Ala604Val) rs1286776938 0.00001
NM_020975.6(RET):c.1880-12C>G rs374893494 0.00001
NM_020975.6(RET):c.1904G>A (p.Arg635His) rs776164321 0.00001
NM_020975.6(RET):c.1921G>A (p.Ala641Thr) rs377767411 0.00001
NM_020975.6(RET):c.1973A>G (p.His658Arg) rs1274484329 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.199C>T (p.Arg67Cys) rs749390385 0.00001
NM_020975.6(RET):c.2005A>G (p.Ile669Val) rs776986585 0.00001
NM_020975.6(RET):c.2018A>C (p.Glu673Ala) rs770100231 0.00001
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316 0.00001
NM_020975.6(RET):c.2078G>A (p.Arg693His) rs1332256523 0.00001
NM_020975.6(RET):c.2110G>T (p.Val704Phe) rs927029236 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2162G>A (p.Arg721Gln) rs1356141763 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2182A>G (p.Lys728Glu) rs147216744 0.00001
NM_020975.6(RET):c.2209A>C (p.Lys737Gln) rs768217520 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2243G>A (p.Gly748Asp) rs1314127008 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.2286G>C (p.Glu762Asp) rs1323183090 0.00001
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2365A>G (p.Lys789Glu) rs1352006130 0.00001
NM_020975.6(RET):c.236G>A (p.Arg79Gln) rs1318325737 0.00001
NM_020975.6(RET):c.2485A>G (p.Ser829Gly) rs113005278 0.00001
NM_020975.6(RET):c.2486G>C (p.Ser829Thr) rs943720843 0.00001
NM_020975.6(RET):c.2546G>A (p.Gly849Asp) rs761130672 0.00001
NM_020975.6(RET):c.2607+5G>A rs143862573 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_020975.6(RET):c.2679C>T (p.Phe893=) rs768188546 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_020975.6(RET):c.2728C>G (p.Gln910Glu) rs1282729859 0.00001
NM_020975.6(RET):c.2758A>G (p.Ile920Val) rs527787676 0.00001
NM_020975.6(RET):c.2776C>G (p.His926Asp) rs774215008 0.00001
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861 0.00001
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_020975.6(RET):c.2996C>T (p.Ala999Val) rs748288493 0.00001
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys) rs1438192223 0.00001
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn) rs867206631 0.00001
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu) rs1305293392 0.00001
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp) rs569004816 0.00001
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) rs772395752 0.00001
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg) rs370756353 0.00001
NM_020975.6(RET):c.3184T>C (p.Tyr1062His) rs138010639 0.00001
NM_020975.6(RET):c.3192G>A (p.Met1064Ile) rs144730090 0.00001
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser) rs776615468 0.00001
NM_020975.6(RET):c.3287A>G (p.Tyr1096Cys) rs768752146 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.340C>T (p.Arg114Cys) rs747483905 0.00001
NM_020975.6(RET):c.350C>A (p.Pro117His) rs763295929 0.00001
NM_020975.6(RET):c.397C>T (p.Arg133Cys) rs1564490056 0.00001
NM_020975.6(RET):c.430C>T (p.Arg144Cys) rs1588863984 0.00001
NM_020975.6(RET):c.431G>A (p.Arg144His) rs551142665 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_020975.6(RET):c.517T>C (p.Ser173Pro) rs864622361 0.00001
NM_020975.6(RET):c.530G>A (p.Arg177Gln) rs759229505 0.00001
NM_020975.6(RET):c.548G>A (p.Gly183Asp) rs144801580 0.00001
NM_020975.6(RET):c.59C>A (p.Pro20Gln) rs1837067697 0.00001
NM_020975.6(RET):c.602G>C (p.Ser201Thr) rs898525501 0.00001
NM_020975.6(RET):c.625+11A>G rs778239396 0.00001
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020975.6(RET):c.667G>A (p.Val223Met) rs587780815 0.00001
NM_020975.6(RET):c.677G>C (p.Arg226Pro) rs937818626 0.00001
NM_020975.6(RET):c.701G>A (p.Arg234Gln) rs756216318 0.00001
NM_020975.6(RET):c.750C>T (p.Arg250=) rs1013952995 0.00001
NM_020975.6(RET):c.776C>T (p.Pro259Leu) rs759812068 0.00001
NM_020975.6(RET):c.832A>G (p.Thr278Ala) rs541929171 0.00001
NM_020975.6(RET):c.890G>A (p.Arg297His) rs1480040525 0.00001
NM_020975.6(RET):c.943A>C (p.Thr315Pro) rs774637214 0.00001
NM_177438.3(DICER1):c.-5G>A rs747383554 0.00001
NM_177438.3(DICER1):c.1117G>C (p.Val373Leu) rs369145814 0.00001
NM_177438.3(DICER1):c.128C>T (p.Thr43Met) rs367797765 0.00001
NM_177438.3(DICER1):c.1733C>G (p.Thr578Ser) rs1060503586 0.00001
NM_177438.3(DICER1):c.1770T>C (p.Cys590=) rs777355058 0.00001
NM_177438.3(DICER1):c.1967G>A (p.Arg656Gln) rs766707302 0.00001
NM_177438.3(DICER1):c.2050A>G (p.Met684Val) rs142300389 0.00001
NM_177438.3(DICER1):c.2449C>G (p.Pro817Ala) rs774540239 0.00001
NM_177438.3(DICER1):c.2536A>G (p.Ile846Val) rs201212908 0.00001
NM_177438.3(DICER1):c.263A>T (p.Asp88Val) rs775828379 0.00001
NM_177438.3(DICER1):c.2732G>A (p.Ser911Asn) rs771697618 0.00001
NM_177438.3(DICER1):c.3269+12C>T rs775380766 0.00001
NM_177438.3(DICER1):c.3456C>G (p.Asn1152Lys) rs1595366928 0.00001
NM_177438.3(DICER1):c.3578A>G (p.Asn1193Ser) rs1288723916 0.00001
NM_177438.3(DICER1):c.3631G>A (p.Val1211Met) rs764470378 0.00001
NM_177438.3(DICER1):c.3637C>G (p.Pro1213Ala) rs965289045 0.00001
NM_177438.3(DICER1):c.3722A>G (p.Lys1241Arg) rs764415288 0.00001
NM_177438.3(DICER1):c.3778G>A (p.Val1260Ile) rs763425076 0.00001
NM_177438.3(DICER1):c.3827A>G (p.Asp1276Gly) rs758636143 0.00001
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu) rs1060503657 0.00001
NM_177438.3(DICER1):c.4991C>T (p.Ser1664Leu) rs988095775 0.00001
NM_177438.3(DICER1):c.920G>A (p.Arg307His) rs149718671 0.00001
NM_177438.3(DICER1):c.925G>A (p.Val309Ile) rs1181141404 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)
NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1918A>G (p.Ile640Val)
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)
NM_000369.5(TSHR):c.881+1G>T
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.11_13del (p.His4del) rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.235A>G (p.Thr79Ala)
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) rs767889884
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) rs1313375879
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1136_1148del (p.Ile379fs)
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.164+1G>C rs1021962985
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.1672A>C (p.Asn558His)
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1803+1G>T
NM_000441.2(SLC26A4):c.1873G>T (p.Glu625Ter)
NM_000441.2(SLC26A4):c.1956del (p.Val653fs)
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2027dup (p.Arg677fs)
NM_000441.2(SLC26A4):c.202_203del (p.Leu68fs)
NM_000441.2(SLC26A4):c.2035-1G>C
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg) rs1345175795
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.305-1G>T
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val) rs2129311246
NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.598del (p.Gln200fs)
NM_000441.2(SLC26A4):c.661G>T (p.Gly221Cys)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
NM_000441.2(SLC26A4):c.846T>A (p.Cys282Ter)
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000441.2(SLC26A4):c.991_1001+7delinsCCCCA
NM_000453.3(SLC5A5):c.1242+2T>G
NM_000453.3(SLC5A5):c.1340dup (p.Leu449fs)
NM_000453.3(SLC5A5):c.1459_1460del (p.Val488fs)
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
NM_000453.3(SLC5A5):c.1605_1618del (p.Thr536fs)
NM_000453.3(SLC5A5):c.1767+1G>C
NM_000453.3(SLC5A5):c.1768-1G>C
NM_000453.3(SLC5A5):c.357+1G>A
NM_000453.3(SLC5A5):c.371G>A (p.Arg124His)
NM_000453.3(SLC5A5):c.410_414del (p.Tyr137fs)
NM_000453.3(SLC5A5):c.679del (p.Ser227fs)
NM_000453.3(SLC5A5):c.699-2A>G
NM_000453.3(SLC5A5):c.969+1G>A
NM_000453.3(SLC5A5):c.970-7_980delinsA
NM_000453.3(SLC5A5):c.970-9_970dup
NM_000549.5(TSHB):c.-1_5del (p.Met1_Thr2del)
NM_000549.5(TSHB):c.108_109del (p.Ala37fs) rs2101008674
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668
NM_000549.5(TSHB):c.230del (p.Phe77fs)
NM_000549.5(TSHB):c.315T>A (p.Cys105Ter)
NM_001079668.3(NKX2-1):c.572G>T (p.Arg191Leu)
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter)
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1208del (p.Leu403fs)
NM_001206744.2(TPO):c.1336del (p.Gln446fs)
NM_001206744.2(TPO):c.1598-2A>C
NM_001206744.2(TPO):c.1753dup (p.Asp585fs)
NM_001206744.2(TPO):c.179+2T>C
NM_001206744.2(TPO):c.1999G>A (p.Gly667Ser)
NM_001206744.2(TPO):c.2044C>T (p.Gln682Ter)
NM_001206744.2(TPO):c.2088_2089del (p.Cys696_Asp697delinsTer)
NM_001206744.2(TPO):c.2141del (p.Phe714fs)
NM_001206744.2(TPO):c.2314_2332del (p.Tyr772fs)
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.251del (p.Ser84fs)
NM_001206744.2(TPO):c.2618+1G>T
NM_001206744.2(TPO):c.2673_2692dup (p.Lys898delinsIleProSerTer)
NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter)
NM_001206744.2(TPO):c.2693del (p.Lys898fs)
NM_001206744.2(TPO):c.2749-1G>A
NM_001206744.2(TPO):c.419del (p.Pro140fs)
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) rs138509145
NM_001206744.2(TPO):c.453C>A (p.Tyr151Ter)
NM_001206744.2(TPO):c.482+1G>A
NM_001206744.2(TPO):c.543T>G (p.Tyr181Ter)
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001206744.2(TPO):c.736C>T (p.Gln246Ter)
NM_001206744.2(TPO):c.796C>T (p.Gln266Ter)
NM_001206744.2(TPO):c.870C>A (p.Tyr290Ter)
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001363711.2(DUOX2):c.1131+1G>A
NM_001363711.2(DUOX2):c.1237_1241del (p.Tyr413fs)
NM_001363711.2(DUOX2):c.1242G>A (p.Trp414Ter)
NM_001363711.2(DUOX2):c.1275T>G (p.Tyr425Ter)
NM_001363711.2(DUOX2):c.1300_1320del (p.Arg434_Ser440del)
NM_001363711.2(DUOX2):c.1304A>G (p.Asp435Gly)
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) rs2141153740
NM_001363711.2(DUOX2):c.1464del (p.Leu489fs)
NM_001363711.2(DUOX2):c.1506dup (p.Ile503fs)
NM_001363711.2(DUOX2):c.1519C>T (p.Gln507Ter)
NM_001363711.2(DUOX2):c.1648dup (p.Ile550fs)
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1831+2T>G
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2104_2106del (p.Gly702del) rs779340990
NM_001363711.2(DUOX2):c.2201G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2327_2328del (p.Phe776fs)
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter)
NM_001363711.2(DUOX2):c.2560+2T>C
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2852-2A>G
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3005+1G>T
NM_001363711.2(DUOX2):c.3006-1G>C
NM_001363711.2(DUOX2):c.3010_3016del (p.Ala1004fs)
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter)
NM_001363711.2(DUOX2):c.316dup (p.Val106fs)
NM_001363711.2(DUOX2):c.3285_3286del (p.Ile1097fs)
NM_001363711.2(DUOX2):c.3325del (p.Leu1109fs)
NM_001363711.2(DUOX2):c.3391G>T (p.Ala1131Ser)
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)
NM_001363711.2(DUOX2):c.3540T>A (p.Tyr1180Ter)
NM_001363711.2(DUOX2):c.3657G>A (p.Trp1219Ter)
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3709_3711dup (p.Ser1237_Tyr1238insSer)
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.3862C>T (p.Gln1288Ter)
NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) rs78020568
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp)
NM_001363711.2(DUOX2):c.4052del (p.Lys1351fs)
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4157del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4239+1G>A
NM_001363711.2(DUOX2):c.4524+1dup rs578014563
NM_001363711.2(DUOX2):c.4552G>C (p.Gly1518Arg)
NM_001363711.2(DUOX2):c.477del (p.Glu160fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001363711.2(DUOX2):c.70+5G>C
NM_001363711.2(DUOX2):c.73A>C (p.Ser25Arg)
NM_001363711.2(DUOX2):c.943G>T (p.Gly315Ter)
NM_001363711.2(DUOX2):c.944-2A>T
NM_001363711.2(DUOX2):c.979G>T (p.Glu327Ter)
NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) rs1648629565
NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) rs17853258
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=) rs1471561944
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) rs1378425325
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
NM_003235.5(TG):c.1072dup (p.Cys358fs)
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1348del (p.Ser450fs)
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) rs773142559
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
NM_003235.5(TG):c.1502dup (p.Gln502fs)
NM_003235.5(TG):c.1830_1831del (p.Gln610fs)
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
NM_003235.5(TG):c.2266dup (p.Ser756fs)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) rs16904774
NM_003235.5(TG):c.274+2T>G
NM_003235.5(TG):c.2761+1G>T
NM_003235.5(TG):c.2898del (p.Asn967fs)
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
NM_003235.5(TG):c.3001+2T>C
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
NM_003235.5(TG):c.3331-2A>G
NM_003235.5(TG):c.3488del (p.Pro1163fs)
NM_003235.5(TG):c.3634+1G>A
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
NM_003235.5(TG):c.4014del (p.Phe1338fs)
NM_003235.5(TG):c.416G>A (p.Trp139Ter) rs141306917
NM_003235.5(TG):c.4357del (p.Ser1453fs)
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly)
NM_003235.5(TG):c.4644del (p.Arg1549fs)
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
NM_003235.5(TG):c.479-2A>G
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
NM_003235.5(TG):c.5549-1_5556del
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
NM_003235.5(TG):c.6562+1G>A
NM_003235.5(TG):c.6562+2T>A
NM_003235.5(TG):c.6562+2T>C
NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG
NM_003235.5(TG):c.6782+1G>T
NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7036+2T>G
NM_003235.5(TG):c.7037-2del
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.745+1_745+9delinsATC
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
NM_003235.5(TG):c.7863-1G>A
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
NM_003301.7(TRHR):c.597_598del (p.Phe199fs)
NM_003466.4(PAX8):c.398G>A (p.Arg133Gln)
NM_003466.4(PAX8):c.91C>T (p.Arg31Cys) rs761612832
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del) rs71369530
NM_004473.4(FOXE1):c.608C>G (p.Pro203Arg)
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) rs753977266
NM_005343.4(HRAS):c.550T>G (p.Cys184Gly)
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_020975.6(RET):c.1009G>C (p.Glu337Gln) rs1161270866
NM_020975.6(RET):c.1046C>G (p.Ala349Gly) rs754859905
NM_020975.6(RET):c.1057G>T (p.Asp353Tyr) rs1837785429
NM_020975.6(RET):c.1142T>G (p.Phe381Cys)
NM_020975.6(RET):c.1154G>T (p.Gly385Val) rs906695652
NM_020975.6(RET):c.1189G>A (p.Val397Met) rs183729115
NM_020975.6(RET):c.1230C>G (p.Leu410=) rs995081128
NM_020975.6(RET):c.1253G>C (p.Arg418Pro) rs371731991
NM_020975.6(RET):c.1264-10G>A rs1837911590
NM_020975.6(RET):c.1264-5C>A rs9282835
NM_020975.6(RET):c.1300A>G (p.Ser434Gly) rs794727875
NM_020975.6(RET):c.1311C>T (p.Asn437=) rs1190189942
NM_020975.6(RET):c.1375G>A (p.Glu459Lys) rs539995816
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.1450A>G (p.Met484Val) rs755660496
NM_020975.6(RET):c.1450A>T (p.Met484Leu) rs755660496
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) rs372648203
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1538C>T (p.Ala513Val) rs149238501
NM_020975.6(RET):c.1547C>G (p.Pro516Arg) rs1194200337
NM_020975.6(RET):c.1550T>G (p.Leu517Arg)
NM_020975.6(RET):c.1573C>G (p.Arg525Gly) rs545625150
NM_020975.6(RET):c.1612A>G (p.Thr538Ala)
NM_020975.6(RET):c.1617C>A (p.Gly539=) rs1554818648
NM_020975.6(RET):c.1648+14A>G rs1356301733
NM_020975.6(RET):c.1648+5G>A rs863224776
NM_020975.6(RET):c.1783G>A (p.Glu595Lys) rs1483605155
NM_020975.6(RET):c.1829A>G (p.Asn610Ser) rs1837994115
NM_020975.6(RET):c.1846G>A (p.Glu616Lys) rs1393753095
NM_020975.6(RET):c.1850A>G (p.Lys617Arg)
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.186G>A (p.Glu62=) rs1588862529
NM_020975.6(RET):c.1880-12C>A
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1991C>A (p.Ala664Asp)
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.206G>A (p.Gly69Asp) rs2132661188
NM_020975.6(RET):c.2087C>T (p.Ser696Leu) rs1564496520
NM_020975.6(RET):c.2089C>T (p.Leu697=) rs1588874416
NM_020975.6(RET):c.20G>A (p.Gly7Asp) rs1366681125
NM_020975.6(RET):c.2120A>C (p.Asp707Ala)
NM_020975.6(RET):c.2128A>G (p.Lys710Glu) rs3026760
NM_020975.6(RET):c.2136+9C>T rs1331402266
NM_020975.6(RET):c.2199C>T (p.Gly733=) rs587780809
NM_020975.6(RET):c.2262G>A (p.Thr754=) rs779080598
NM_020975.6(RET):c.2284+4C>G rs1838080320
NM_020975.6(RET):c.2288A>G (p.Asn763Ser)
NM_020975.6(RET):c.2305_2307delinsTTT (p.Leu769Phe)
NM_020975.6(RET):c.2309G>C (p.Arg770Pro) rs377767414
NM_020975.6(RET):c.2326T>C (p.Phe776Leu)
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2359G>A (p.Val787Ile)
NM_020975.6(RET):c.2393-5C>T rs1554819512
NM_020975.6(RET):c.242A>G (p.His81Arg) rs1217729118
NM_020975.6(RET):c.2433C>T (p.Ser811=) rs1290818295
NM_020975.6(RET):c.2450G>A (p.Arg817His) rs1345166214
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2456G>T (p.Ser819Ile) rs377767421
NM_020975.6(RET):c.2476T>A (p.Tyr826Asn) rs1445590151
NM_020975.6(RET):c.2480T>C (p.Leu827Pro) rs2132945857
NM_020975.6(RET):c.2487T>C (p.Ser829=) rs2132946081
NM_020975.6(RET):c.2530C>T (p.Arg844Trp) rs377767424
NM_020975.6(RET):c.2535C>T (p.Ala845=) rs377767425
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020975.6(RET):c.2607+3G>C rs752538741
NM_020975.6(RET):c.2647G>C (p.Ala883Pro)
NM_020975.6(RET):c.2662A>G (p.Met888Val) rs774930499
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)
NM_020975.6(RET):c.2700T>C (p.Tyr900=) rs1185622721
NM_020975.6(RET):c.2708A>G (p.Asp903Gly) rs1423488525
NM_020975.6(RET):c.2710T>G (p.Ser904Ala) rs1588877711
NM_020975.6(RET):c.2716G>A (p.Val906Met) rs200627072
NM_020975.6(RET):c.275C>G (p.Thr92Ser)
NM_020975.6(RET):c.2802-17C>G rs750812195
NM_020975.6(RET):c.2819T>C (p.Leu940Pro)
NM_020975.6(RET):c.2900G>A (p.Gly967Asp) rs1838270446
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.2985G>A (p.Arg995=) rs1252674267
NM_020975.6(RET):c.2987C>T (p.Pro996Leu) rs1588880114
NM_020975.6(RET):c.3022A>T (p.Met1008Leu) rs1554820077
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu) rs368345402
NM_020975.6(RET):c.3033G>C (p.Lys1011Asn)
NM_020975.6(RET):c.3043T>A (p.Tyr1015Asn)
NM_020975.6(RET):c.3068C>T (p.Pro1023Leu) rs138912894
NM_020975.6(RET):c.3152C>T (p.Ala1051Val) rs1564501944
NM_020975.6(RET):c.3170T>C (p.Ile1057Thr) rs758877145
NM_020975.6(RET):c.3173A>T (p.Glu1058Val) rs780578577
NM_020975.6(RET):c.3187+12C>T rs897706317
NM_020975.6(RET):c.319G>A (p.Glu107Lys) rs1025290394
NM_020975.6(RET):c.31C>T (p.Leu11=) rs587780812
NM_020975.6(RET):c.3217_3218dup (p.Ser1073fs) rs1428704590
NM_020975.6(RET):c.413A>G (p.Gln138Arg)
NM_020975.6(RET):c.422G>C (p.Gly141Ala) rs770840152
NM_020975.6(RET):c.443C>T (p.Ser148Phe) rs1837660663
NM_020975.6(RET):c.445TTC[1] (p.Phe150del) rs776989694
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.452A>T (p.Asn151Ile) rs150261092
NM_020975.6(RET):c.482A>G (p.Lys161Arg)
NM_020975.6(RET):c.523C>G (p.Arg175Gly) rs1057521088
NM_020975.6(RET):c.565C>T (p.Arg189Cys) rs1210452561
NM_020975.6(RET):c.577G>T (p.Val193Leu) rs1008123818
NM_020975.6(RET):c.592C>T (p.Pro198Ser) rs76736111
NM_020975.6(RET):c.602G>A (p.Ser201Asn)
NM_020975.6(RET):c.643C>G (p.Arg215Gly)
NM_020975.6(RET):c.650C>A (p.Ala217Asp) rs1060500754
NM_020975.6(RET):c.650C>T (p.Ala217Val) rs1060500754
NM_020975.6(RET):c.760G>A (p.Val254Met) rs554862459
NM_020975.6(RET):c.810C>A (p.Pro270=) rs1160403666
NM_020975.6(RET):c.814T>C (p.Phe272Leu)
NM_020975.6(RET):c.868-18G>T rs57098408
NM_020975.6(RET):c.913C>T (p.Pro305Ser)
NM_020975.6(RET):c.920C>T (p.Ser307Leu) rs1554817979
NM_020975.6(RET):c.921A>G (p.Ser307=) rs748294306
NM_020975.6(RET):c.959C>G (p.Pro320Arg) rs1837779952
NM_020975.6(RET):c.960C>A (p.Pro320=) rs756761746
NM_020975.6(RET):c.960C>T (p.Pro320=) rs756761746
NM_020975.6(RET):c.96G>T (p.Ser32=) rs139821724
NM_020975.6(RET):c.980A>C (p.Gln327Pro) rs1837781306
NM_177438.3(DICER1):c.-45-1G>C
NM_177438.3(DICER1):c.1153C>A (p.Arg385Ser) rs746886465
NM_177438.3(DICER1):c.1241A>G (p.Asp414Gly)
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1526G>A (p.Arg509Gln) rs2140126745
NM_177438.3(DICER1):c.1818TGA[2] (p.Asp609del) rs1555372586
NM_177438.3(DICER1):c.1891A>G (p.Ile631Val) rs878855245
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2035A>G (p.Ile679Val) rs1224940599
NM_177438.3(DICER1):c.220_221delinsTT (p.Ala74Leu) rs1566815292
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu) rs1595391071
NM_177438.3(DICER1):c.2436+1dup
NM_177438.3(DICER1):c.2494A>G (p.Lys832Glu) rs1060503613
NM_177438.3(DICER1):c.2510T>C (p.Met837Thr) rs1891606034
NM_177438.3(DICER1):c.3221C>T (p.Thr1074Ile) rs1060503653
NM_177438.3(DICER1):c.3397G>A (p.Ala1133Thr) rs1555369675
NM_177438.3(DICER1):c.3401A>G (p.His1134Arg)
NM_177438.3(DICER1):c.3583G>C (p.Asp1195His) rs1555369546
NM_177438.3(DICER1):c.3631G>C (p.Val1211Leu) rs764470378
NM_177438.3(DICER1):c.3635A>C (p.Gln1212Pro) rs763415569
NM_177438.3(DICER1):c.3740C>T (p.Ala1247Val)
NM_177438.3(DICER1):c.376A>T (p.Asn126Tyr) rs373734886
NM_177438.3(DICER1):c.377A>G (p.Asn126Ser) rs1060503593
NM_177438.3(DICER1):c.3785C>T (p.Pro1262Leu)
NM_177438.3(DICER1):c.3890T>C (p.Ile1297Thr) rs761578934
NM_177438.3(DICER1):c.3890T>G (p.Ile1297Ser)
NM_177438.3(DICER1):c.4024C>T (p.Arg1342Cys) rs776854466
NM_177438.3(DICER1):c.4085A>G (p.Lys1362Arg) rs1595353726
NM_177438.3(DICER1):c.4103G>A (p.Arg1368His) rs767112987
NM_177438.3(DICER1):c.412T>G (p.Trp138Gly)
NM_177438.3(DICER1):c.4151G>T (p.Gly1384Val) rs1060503664
NM_177438.3(DICER1):c.4165C>G (p.Gln1389Glu) rs1890715699
NM_177438.3(DICER1):c.4307C>A (p.Ala1436Asp) rs777127946
NM_177438.3(DICER1):c.4312T>G (p.Tyr1438Asp) rs878855264
NM_177438.3(DICER1):c.4514C>G (p.Ser1505Cys) rs1890339895
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) rs1890331241
NM_177438.3(DICER1):c.4609G>T (p.Val1537Phe)
NM_177438.3(DICER1):c.4616C>A (p.Thr1539Lys) rs747901058
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.713C>G (p.Thr238Ser) rs2140259927
NM_177438.3(DICER1):c.776C>T (p.Pro259Leu) rs566464225
NM_177438.3(DICER1):c.829G>A (p.Ala277Thr) rs1893485850
NM_203395.3(IYD):c.293_306del (p.Asn98fs)
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203395.3(IYD):c.523_524insTT (p.Lys175fs)
NM_203395.3(IYD):c.567del (p.Ile190fs)
NM_203395.3(IYD):c.624del (p.Val209fs) rs763040556
NM_203395.3(IYD):c.736C>T (p.Arg246Ter)
NM_207581.4(DUOXA2):c.136del (p.Arg46fs)
NM_207581.4(DUOXA2):c.147+1G>T
NM_207581.4(DUOXA2):c.1A>G (p.Met1Val)
NM_207581.4(DUOXA2):c.205+1G>A
NM_207581.4(DUOXA2):c.205+1G>T
NM_207581.4(DUOXA2):c.340+1G>A
NM_207581.4(DUOXA2):c.37C>T (p.Gln13Ter)
NM_207581.4(DUOXA2):c.382G>T (p.Glu128Ter)
NM_207581.4(DUOXA2):c.396G>A (p.Trp132Ter)
NM_207581.4(DUOXA2):c.465_466dup (p.Tyr156fs)
NM_207581.4(DUOXA2):c.611T>C (p.Leu204Pro)
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_207581.4(DUOXA2):c.753G>A (p.Trp251Ter)
NM_207581.4(DUOXA2):c.768del (p.Gly257fs)
NM_207581.4(DUOXA2):c.769+2T>A
NM_207581.4(DUOXA2):c.770-19_780del
NM_207581.4(DUOXA2):c.860del (p.Lys287fs)
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) rs974496530

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