ClinVar Miner

List of variants studied for Hereditary hemochromatosis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1178
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.1007-47G>A rs1572982 0.52187
NC_000006.12:g.26086974G>C rs2794720 0.37176
NM_000410.4(HFE):c.340+4T>C rs2071303 0.36484
NC_000019.10:g.35281996A>G rs10421768 0.20737
NM_003227.4(TFR2):c.1851C>T (p.Ala617=) rs2075674 0.16252
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_003227.4(TFR2):c.2085G>C (p.Ser695=) rs150303632 0.01091
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.00992
NM_000410.4(HFE):c.892+16G>C rs145172249 0.00697
NM_003227.4(TFR2):c.1449C>T (p.Ser483=) rs41295899 0.00652
NM_000410.4(HFE):c.1026C>T (p.Tyr342=) rs35201683 0.00515
NM_003227.4(TFR2):c.135G>A (p.Ala45=) rs141968146 0.00479
NM_003227.4(TFR2):c.1941G>T (p.Gly647=) rs111760099 0.00417
NM_003227.4(TFR2):c.1270+16A>G rs185470250 0.00399
NM_021175.4(HAMP):c.92C>T (p.Thr31Met) rs146776859 0.00322
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00296
NC_000019.10:g.35282425C>T rs142126068 0.00287
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00274
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00212
NM_003227.4(TFR2):c.1770C>T (p.Asp590=) rs35704760 0.00188
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696 0.00186
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) rs144665594 0.00184
NM_003227.4(TFR2):c.2389A>G (p.Ile797Val) rs41296645 0.00151
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) rs143251494 0.00113
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
NM_003227.4(TFR2):c.473+8T>A rs148902192 0.00103
NM_003227.4(TFR2):c.727-9T>A rs200816061 0.00103
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_021175.4(HAMP):c.252G>A (p.Thr84=) rs150121265 0.00099
NM_003227.4(TFR2):c.473+12C>T rs200864701 0.00096
NM_003227.4(TFR2):c.1473+16G>A rs186378421 0.00089
NC_000019.10:g.35282506C>T rs367646034 0.00084
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_003227.4(TFR2):c.1682+13G>C rs566516530 0.00079
NM_003227.4(TFR2):c.225G>A (p.Ala75=) rs148140889 0.00079
NM_003227.4(TFR2):c.1097G>A (p.Arg366His) rs184812195 0.00078
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_021175.4(HAMP):c.150+12A>C rs576979244 0.00072
NM_000410.4(HFE):c.1006+14A>G rs201262562 0.00068
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) rs80338885 0.00066
NM_003227.4(TFR2):c.767T>G (p.Leu256Arg) rs200287731 0.00062
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_003227.4(TFR2):c.849+6T>A rs41303468 0.00051
NM_003227.4(TFR2):c.1682+11G>C rs372807620 0.00047
NM_003227.4(TFR2):c.817G>A (p.Val273Met) rs140150109 0.00046
NM_000410.4(HFE):c.21G>A (p.Pro7=) rs114758821 0.00045
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) rs145795884 0.00043
NM_003227.4(TFR2):c.840C>G (p.Phe280Leu) rs151198873 0.00038
NM_003227.4(TFR2):c.1270+15C>T rs200597967 0.00035
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) rs201556221 0.00035
NM_003227.4(TFR2):c.1391-13C>A rs201483480 0.00034
NM_000410.4(HFE):c.68G>A (p.Arg23His) rs148161858 0.00032
NM_003227.4(TFR2):c.287-5G>A rs201206874 0.00032
NM_003227.4(TFR2):c.1812T>C (p.Tyr604=) rs147286030 0.00029
NM_003227.4(TFR2):c.286+15C>T rs372078098 0.00029
NM_003227.4(TFR2):c.1242C>T (p.Phe414=) rs150883560 0.00026
NM_003227.4(TFR2):c.1513G>A (p.Val505Met) rs148541221 0.00026
NM_000410.4(HFE):c.496A>G (p.Lys166Glu) rs144170531 0.00023
NM_003227.4(TFR2):c.447G>A (p.Gly149=) rs41302366 0.00022
NM_021175.4(HAMP):c.175C>G (p.Arg59Gly) rs779021719 0.00022
NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) rs573769443 0.00021
NM_003227.4(TFR2):c.1653G>A (p.Val551=) rs369913499 0.00021
NM_003227.4(TFR2):c.19C>T (p.Leu7=) rs367635364 0.00021
NM_003227.4(TFR2):c.1473+19C>T rs373025420 0.00020
NM_000410.4(HFE):c.174C>T (p.Phe58=) rs147297176 0.00017
NM_003227.4(TFR2):c.1538-16C>T rs368814331 0.00017
NM_000410.4(HFE):c.1015_1016insG (p.Met339fs) rs754949709 0.00015
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00015
NM_003227.4(TFR2):c.303C>T (p.Tyr101=) rs376955913 0.00015
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00014
NM_003227.4(TFR2):c.614+8C>A rs754313308 0.00014
NM_000410.4(HFE):c.670C>T (p.Arg224Trp) rs144797937 0.00013
NM_000410.4(HFE):c.492C>T (p.Pro164=) rs754303122 0.00012
NM_003227.4(TFR2):c.1305A>G (p.Ala435=) rs372014293 0.00012
NM_003227.4(TFR2):c.1620C>T (p.Asn540=) rs199600701 0.00011
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00011
NM_003227.4(TFR2):c.726+9C>T rs372020405 0.00011
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003227.4(TFR2):c.120C>T (p.Asp40=) rs370005999 0.00010
NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys) rs139383159 0.00010
NM_003227.4(TFR2):c.1683-13C>T rs200217701 0.00010
NM_000410.4(HFE):c.616+6G>A rs202027115 0.00009
NM_003227.4(TFR2):c.1959C>T (p.His653=) rs770431152 0.00009
NM_003227.4(TFR2):c.287-6C>T rs374377284 0.00009
NM_003227.4(TFR2):c.33G>A (p.Ala11=) rs111840506 0.00009
NM_000410.4(HFE):c.616+13C>T rs377202967 0.00007
NM_003227.4(TFR2):c.1878A>C (p.Ala626=) rs370288878 0.00007
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.330G>A (p.Ala110=) rs542567285 0.00007
NM_003227.4(TFR2):c.458T>C (p.Leu153Pro) rs201540656 0.00007
NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) rs41303480 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.1149C>T (p.Ser383=) rs757050571 0.00006
NM_003227.4(TFR2):c.1179C>T (p.Pro393=) rs149590949 0.00006
NM_003227.4(TFR2):c.1249A>G (p.Ile417Val) rs141101651 0.00006
NM_003227.4(TFR2):c.184C>T (p.Leu62=) rs912723491 0.00006
NM_003227.4(TFR2):c.2136+9C>A rs759013995 0.00006
NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) rs749842107 0.00006
NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) rs187119131 0.00006
NM_003227.4(TFR2):c.89G>A (p.Arg30Gln) rs750603454 0.00006
NM_021175.4(HAMP):c.61C>T (p.Leu21=) rs760576032 0.00006
NM_000410.4(HFE):c.76+11G>A rs201666949 0.00005
NM_000410.4(HFE):c.843G>A (p.Thr281=) rs369354634 0.00005
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) rs202022975 0.00005
NM_003227.4(TFR2):c.1538-12C>A rs41295903 0.00005
NM_003227.4(TFR2):c.1538-19T>C rs886905130 0.00005
NM_003227.4(TFR2):c.1548G>A (p.Lys516=) rs373936655 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003227.4(TFR2):c.2133G>A (p.Met711Ile) rs941111415 0.00005
NM_003227.4(TFR2):c.2246G>A (p.Arg749Gln) rs369355407 0.00005
NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) rs774907552 0.00005
NM_003227.4(TFR2):c.2346G>A (p.Thr782=) rs367723987 0.00005
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00005
NM_003227.4(TFR2):c.286+10G>A rs375405962 0.00005
NM_003227.4(TFR2):c.479C>T (p.Thr160Ile) rs746602701 0.00005
NM_003227.4(TFR2):c.523C>G (p.Leu175Val) rs377287303 0.00005
NM_003227.4(TFR2):c.727-17C>A rs746033859 0.00005
NM_021175.4(HAMP):c.150+6C>T rs375386964 0.00005
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.1010G>T (p.Gly337Val) rs751707198 0.00004
NM_000410.4(HFE):c.40C>G (p.Leu14Val) rs201657128 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000410.4(HFE):c.696C>T (p.Pro232=) rs775728624 0.00004
NM_003227.4(TFR2):c.1344T>C (p.Ala448=) rs774991526 0.00004
NM_003227.4(TFR2):c.1473+8G>A rs759461055 0.00004
NM_003227.4(TFR2):c.1767+19G>A rs371316105 0.00004
NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) rs138310236 0.00004
NM_003227.4(TFR2):c.2101C>A (p.Arg701=) rs946552921 0.00004
NM_003227.4(TFR2):c.2184G>A (p.Pro728=) rs982999802 0.00004
NM_003227.4(TFR2):c.2234T>G (p.Leu745Arg) rs560223878 0.00004
NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) rs372198326 0.00004
NM_003227.4(TFR2):c.474-6G>T rs780713293 0.00004
NM_003227.4(TFR2):c.674C>T (p.Pro225Leu) rs775428895 0.00004
NM_003227.4(TFR2):c.829G>T (p.Val277Leu) rs754813237 0.00004
NM_003227.4(TFR2):c.906G>A (p.Ala302=) rs146024580 0.00004
NM_021175.4(HAMP):c.54C>T (p.Leu18=) rs145846674 0.00004
NM_000410.4(HFE):c.-7T>C rs369807746 0.00003
NM_000410.4(HFE):c.414C>T (p.Tyr138=) rs780563614 0.00003
NM_000410.4(HFE):c.51C>T (p.Thr17=) rs953205703 0.00003
NM_000410.4(HFE):c.759T>A (p.Pro253=) rs182920795 0.00003
NM_000410.4(HFE):c.76+15T>G rs762584895 0.00003
NM_000410.4(HFE):c.88C>T (p.Leu30=) rs760685317 0.00003
NM_000410.4(HFE):c.951C>T (p.Val317=) rs371192232 0.00003
NM_003227.4(TFR2):c.1096C>T (p.Arg366Cys) rs764311239 0.00003
NM_003227.4(TFR2):c.1275C>T (p.His425=) rs746034002 0.00003
NM_003227.4(TFR2):c.1329C>T (p.Ser443=) rs368298121 0.00003
NM_003227.4(TFR2):c.1390+19C>T rs775080669 0.00003
NM_003227.4(TFR2):c.1391-6C>T rs773308636 0.00003
NM_003227.4(TFR2):c.1473+10G>A rs374546301 0.00003
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00003
NM_003227.4(TFR2):c.1650G>C (p.Val550=) rs757088606 0.00003
NM_003227.4(TFR2):c.1767+16C>T rs374192716 0.00003
NM_003227.4(TFR2):c.1902C>T (p.Ser634=) rs41295918 0.00003
NM_003227.4(TFR2):c.1938C>T (p.Tyr646=) rs1324815806 0.00003
NM_003227.4(TFR2):c.2091G>A (p.Glu697=) rs748623879 0.00003
NM_003227.4(TFR2):c.2136+15T>C rs1397455640 0.00003
NM_003227.4(TFR2):c.2163C>T (p.Tyr721=) rs41295939 0.00003
NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu) rs772659158 0.00003
NM_003227.4(TFR2):c.2268C>T (p.Ser756=) rs760061994 0.00003
NM_003227.4(TFR2):c.2289C>T (p.Ser763=) rs374915672 0.00003
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00003
NM_021175.4(HAMP):c.223C>T (p.Arg75Ter) rs200488037 0.00003
NM_021175.4(HAMP):c.65C>T (p.Thr22Ile) rs770745939 0.00003
NM_000410.4(HFE):c.156C>T (p.Tyr52=) rs756070473 0.00002
NM_000410.4(HFE):c.341-11G>A rs780658465 0.00002
NM_000410.4(HFE):c.528C>G (p.Ala176=) rs779438836 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000410.4(HFE):c.548T>C (p.Leu183Pro) rs199916850 0.00002
NM_000410.4(HFE):c.54G>A (p.Ala18=) rs1432538644 0.00002
NM_000410.4(HFE):c.616+1G>T rs773443949 0.00002
NM_000410.4(HFE):c.6C>T (p.Gly2=) rs558658016 0.00002
NM_000410.4(HFE):c.724G>A (p.Asp242Asn) rs780188535 0.00002
NM_000410.4(HFE):c.727A>G (p.Lys243Glu) rs767897445 0.00002
NM_000410.4(HFE):c.867G>C (p.Leu289=) rs757276126 0.00002
NM_000410.4(HFE):c.892G>T (p.Glu298Ter) rs749553271 0.00002
NM_000410.4(HFE):c.903G>A (p.Pro301=) rs372856303 0.00002
NM_000410.4(HFE):c.912C>G (p.Thr304=) rs915098169 0.00002
NM_003227.4(TFR2):c.123G>A (p.Gly41=) rs779980249 0.00002
NM_003227.4(TFR2):c.1390+10G>A rs1215345116 0.00002
NM_003227.4(TFR2):c.1473+15C>T rs201082151 0.00002
NM_003227.4(TFR2):c.1473+7C>T rs772014889 0.00002
NM_003227.4(TFR2):c.1537+14G>T rs761297359 0.00002
NM_003227.4(TFR2):c.1605+9A>G rs771540356 0.00002
NM_003227.4(TFR2):c.1626T>C (p.Ser542=) rs781300326 0.00002
NM_003227.4(TFR2):c.1683-15C>T rs758038845 0.00002
NM_003227.4(TFR2):c.1683-7C>T rs765554083 0.00002
NM_003227.4(TFR2):c.1767+20C>G rs775498234 0.00002
NM_003227.4(TFR2):c.1767+5G>A rs894600504 0.00002
NM_003227.4(TFR2):c.1768-20C>T rs779551068 0.00002
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) rs1220336558 0.00002
NM_003227.4(TFR2):c.1881G>A (p.Gly627=) rs1473059340 0.00002
NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg) rs758539890 0.00002
NM_003227.4(TFR2):c.2088G>A (p.Glu696=) rs766359389 0.00002
NM_003227.4(TFR2):c.2196C>A (p.Ile732=) rs749382174 0.00002
NM_003227.4(TFR2):c.2219C>T (p.Thr740Met) rs150806077 0.00002
NM_003227.4(TFR2):c.2223G>A (p.Leu741=) rs527966428 0.00002
NM_003227.4(TFR2):c.2320C>T (p.Arg774Cys) rs146487447 0.00002
NM_003227.4(TFR2):c.2327T>C (p.Leu776Pro) rs375561858 0.00002
NM_003227.4(TFR2):c.2376G>A (p.Gly792=) rs767243748 0.00002
NM_003227.4(TFR2):c.33+20G>A rs368370021 0.00002
NM_003227.4(TFR2):c.334G>A (p.Gly112Arg) rs759961080 0.00002
NM_003227.4(TFR2):c.34-11C>T rs749286028 0.00002
NM_003227.4(TFR2):c.441C>T (p.Phe147=) rs777107486 0.00002
NM_003227.4(TFR2):c.489G>T (p.Arg163=) rs141943282 0.00002
NM_003227.4(TFR2):c.591C>T (p.Tyr197=) rs779594895 0.00002
NM_003227.4(TFR2):c.795T>C (p.Asp265=) rs779026536 0.00002
NM_003227.4(TFR2):c.849+14G>A rs764877859 0.00002
NM_003227.4(TFR2):c.850-12C>T rs1432621218 0.00002
NM_003227.4(TFR2):c.967-12C>T rs1181020710 0.00002
NM_021175.4(HAMP):c.151-7C>T rs1568466083 0.00002
NM_021175.4(HAMP):c.210C>T (p.Cys70=) rs760104316 0.00002
NM_000410.4(HFE):c.1006+17G>A rs1468913458 0.00001
NM_000410.4(HFE):c.1035T>A (p.Ala345=) rs756430763 0.00001
NM_000410.4(HFE):c.199C>T (p.Arg67Cys) rs772818312 0.00001
NM_000410.4(HFE):c.20C>G (p.Pro7Arg) rs766754409 0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter) rs759524388 0.00001
NM_000410.4(HFE):c.228C>T (p.Ser76=) rs62625342 0.00001
NM_000410.4(HFE):c.23C>T (p.Ala8Val) rs999289975 0.00001
NM_000410.4(HFE):c.24G>C (p.Ala8=) rs2481576180 0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) rs28934596 0.00001
NM_000410.4(HFE):c.341-17G>C rs1161539562 0.00001
NM_000410.4(HFE):c.341-4C>G rs1054837033 0.00001
NM_000410.4(HFE):c.352C>T (p.Leu118=) rs1368079234 0.00001
NM_000410.4(HFE):c.363C>T (p.Ile121=) rs754323879 0.00001
NM_000410.4(HFE):c.389A>G (p.Asn130Ser) rs201885016 0.00001
NM_000410.4(HFE):c.396C>T (p.Thr132=) rs369790080 0.00001
NM_000410.4(HFE):c.498G>C (p.Lys166Asn) rs753179816 0.00001
NM_000410.4(HFE):c.537C>T (p.Asn179=) rs1284999612 0.00001
NM_000410.4(HFE):c.563C>T (p.Pro188Leu) rs1762709248 0.00001
NM_000410.4(HFE):c.57C>T (p.Val19=) rs749460044 0.00001
NM_000410.4(HFE):c.636G>C (p.Val212=) rs1581671232 0.00001
NM_000410.4(HFE):c.660G>A (p.Val220=) rs1293837185 0.00001
NM_000410.4(HFE):c.669A>G (p.Leu223=) rs1272137037 0.00001
NM_000410.4(HFE):c.679G>C (p.Ala227Pro) rs1352793260 0.00001
NM_000410.4(HFE):c.747G>A (p.Lys249=) rs747277009 0.00001
NM_000410.4(HFE):c.753C>T (p.Phe251=) rs150402693 0.00001
NM_000410.4(HFE):c.76+12G>A rs896080299 0.00001
NM_000410.4(HFE):c.76+13G>A rs950196580 0.00001
NM_000410.4(HFE):c.76+8C>T rs1354115687 0.00001
NM_000410.4(HFE):c.765C>T (p.Asp255=) rs777622145 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000410.4(HFE):c.780G>A (p.Gly260=) rs1287023718 0.00001
NM_000410.4(HFE):c.842C>T (p.Thr281Met) rs915273578 0.00001
NM_000410.4(HFE):c.84C>T (p.His28=) rs766876606 0.00001
NM_000410.4(HFE):c.87T>C (p.Ser29=) rs772911078 0.00001
NM_000410.4(HFE):c.893-1G>C rs1224306184 0.00001
NM_000410.4(HFE):c.913C>T (p.Leu305=) rs571150642 0.00001
NM_000410.4(HFE):c.99C>T (p.Leu33=) rs753662663 0.00001
NM_003227.4(TFR2):c.1098C>T (p.Arg366=) rs752887870 0.00001
NM_003227.4(TFR2):c.1106+12G>A rs1339278891 0.00001
NM_003227.4(TFR2):c.1106+7G>C rs1207873255 0.00001
NM_003227.4(TFR2):c.1107-4C>T rs1355173070 0.00001
NM_003227.4(TFR2):c.1113C>T (p.Leu371=) rs1185718641 0.00001
NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) rs778433259 0.00001
NM_003227.4(TFR2):c.1153C>T (p.Leu385=) rs999797341 0.00001
NM_003227.4(TFR2):c.1161C>T (p.Ser387=) rs774163818 0.00001
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1218C>T (p.Thr406=) rs762731224 0.00001
NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) rs143185818 0.00001
NM_003227.4(TFR2):c.1246T>C (p.Cys416Arg) rs1351526519 0.00001
NM_003227.4(TFR2):c.1263A>G (p.Ser421=) rs142005608 0.00001
NM_003227.4(TFR2):c.1270+1G>C rs1803411479 0.00001
NM_003227.4(TFR2):c.1270+9T>C rs2131316917 0.00001
NM_003227.4(TFR2):c.1278C>T (p.Tyr426=) rs535869195 0.00001
NM_003227.4(TFR2):c.1286dup (p.Gly430fs) rs1803363753 0.00001
NM_003227.4(TFR2):c.1287C>T (p.Ile429=) rs747965768 0.00001
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg) rs780902940 0.00001
NM_003227.4(TFR2):c.1351C>T (p.Leu451=) rs1040654031 0.00001
NM_003227.4(TFR2):c.1362_1363insT (p.Arg455fs) rs1020301245 0.00001
NM_003227.4(TFR2):c.1377C>T (p.Ser459=) rs1215920663 0.00001
NM_003227.4(TFR2):c.1391-11T>C rs1322159636 0.00001
NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile) rs772104483 0.00001
NM_003227.4(TFR2):c.1431C>T (p.Asp477=) rs778438972 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1470A>G (p.Leu490=) rs1481234304 0.00001
NM_003227.4(TFR2):c.1470del (p.Glu491fs) rs2131313576 0.00001
NM_003227.4(TFR2):c.1473+14C>A rs374113312 0.00001
NM_003227.4(TFR2):c.1474-10C>T rs1320274055 0.00001
NM_003227.4(TFR2):c.1474-18C>T rs747728512 0.00001
NM_003227.4(TFR2):c.1474-1G>A rs931476373 0.00001
NM_003227.4(TFR2):c.1474-9C>T rs768409892 0.00001
NM_003227.4(TFR2):c.1503C>T (p.Ala501=) rs754040201 0.00001
NM_003227.4(TFR2):c.1527C>T (p.Asn509=) rs201943504 0.00001
NM_003227.4(TFR2):c.1537+11G>A rs1269797253 0.00001
NM_003227.4(TFR2):c.1537+7T>C rs1315674743 0.00001
NM_003227.4(TFR2):c.1538-11C>T rs1803316574 0.00001
NM_003227.4(TFR2):c.1538-18C>T rs377108556 0.00001
NM_003227.4(TFR2):c.153C>T (p.Phe51=) rs747497732 0.00001
NM_003227.4(TFR2):c.1557C>G (p.Ala519=) rs1250749215 0.00001
NM_003227.4(TFR2):c.1605+19T>C rs978913572 0.00001
NM_003227.4(TFR2):c.1606-13C>T rs1212399563 0.00001
NM_003227.4(TFR2):c.1606-2A>G rs750609759 0.00001
NM_003227.4(TFR2):c.1611T>C (p.Asp537=) rs763299493 0.00001
NM_003227.4(TFR2):c.1619A>G (p.Asn540Ser) rs770274506 0.00001
NM_003227.4(TFR2):c.1638C>A (p.Leu546=) rs903250919 0.00001
NM_003227.4(TFR2):c.1682+10G>C rs751258355 0.00001
NM_003227.4(TFR2):c.1682+8G>A rs1357813557 0.00001
NM_003227.4(TFR2):c.1683-11C>T rs1289257053 0.00001
NM_003227.4(TFR2):c.1683-17A>C rs766102069 0.00001
NM_003227.4(TFR2):c.1683-4C>T rs201936620 0.00001
NM_003227.4(TFR2):c.171G>A (p.Arg57=) rs758440377 0.00001
NM_003227.4(TFR2):c.1728C>A (p.Ala576=) rs1803303178 0.00001
NM_003227.4(TFR2):c.1746C>T (p.Ala582=) rs781258602 0.00001
NM_003227.4(TFR2):c.1752G>A (p.Glu584=) rs1219900591 0.00001
NM_003227.4(TFR2):c.1768-19G>A rs757861321 0.00001
NM_003227.4(TFR2):c.1768-4G>A rs911003123 0.00001
NM_003227.4(TFR2):c.177T>C (p.Pro59=) rs961591005 0.00001
NM_003227.4(TFR2):c.1848C>T (p.Pro616=) rs1004353651 0.00001
NM_003227.4(TFR2):c.1875C>T (p.Leu625=) rs778534889 0.00001
NM_003227.4(TFR2):c.1884G>A (p.Gln628=) rs778041715 0.00001
NM_003227.4(TFR2):c.1896G>A (p.Arg632=) rs1291134295 0.00001
NM_003227.4(TFR2):c.1899C>G (p.Leu633=) rs1446194909 0.00001
NM_003227.4(TFR2):c.1929C>T (p.Phe643=) rs1280897931 0.00001
NM_003227.4(TFR2):c.1939G>A (p.Gly647Arg) rs759540608 0.00001
NM_003227.4(TFR2):c.1956G>A (p.Arg652=) rs1170988281 0.00001
NM_003227.4(TFR2):c.1992C>T (p.Leu664=) rs1345243339 0.00001
NM_003227.4(TFR2):c.1995+19G>A rs377134666 0.00001
NM_003227.4(TFR2):c.1996-4C>T rs567100594 0.00001
NM_003227.4(TFR2):c.2016G>A (p.Gln672=) rs934571024 0.00001
NM_003227.4(TFR2):c.2025C>G (p.Tyr675Ter) rs1405776096 0.00001
NM_003227.4(TFR2):c.2036G>A (p.Gly679Glu) rs1060502724 0.00001
NM_003227.4(TFR2):c.2037G>A (p.Gly679=) rs1803271919 0.00001
NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr) rs1302587036 0.00001
NM_003227.4(TFR2):c.2046C>T (p.Ile682=) rs1221422629 0.00001
NM_003227.4(TFR2):c.2054C>T (p.Ala685Val) rs765525964 0.00001
NM_003227.4(TFR2):c.2073G>A (p.Glu691=) rs1351535202 0.00001
NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter) rs1478674823 0.00001
NM_003227.4(TFR2):c.2100G>A (p.Glu700=) rs1357723414 0.00001
NM_003227.4(TFR2):c.2109A>G (p.Thr703=) rs1219883460 0.00001
NM_003227.4(TFR2):c.2128_2132del (p.Ile710fs) rs765525417 0.00001
NM_003227.4(TFR2):c.2136+19C>T rs1187185293 0.00001
NM_003227.4(TFR2):c.2137-14C>T rs532499640 0.00001
NM_003227.4(TFR2):c.2137-16C>T rs1191398149 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.2137-4G>A rs1255761537 0.00001
NM_003227.4(TFR2):c.2169G>A (p.Ser723=) rs776336894 0.00001
NM_003227.4(TFR2):c.2175C>T (p.Ala725=) rs747347518 0.00001
NM_003227.4(TFR2):c.2226C>T (p.Gly742=) rs1017609666 0.00001
NM_003227.4(TFR2):c.2233C>T (p.Leu745=) rs988853862 0.00001
NM_003227.4(TFR2):c.2238C>T (p.Asp746=) rs761382119 0.00001
NM_003227.4(TFR2):c.2250G>T (p.Leu750=) rs1352362365 0.00001
NM_003227.4(TFR2):c.2253G>A (p.Leu751=) rs1231883386 0.00001
NM_003227.4(TFR2):c.2254C>T (p.Arg752Cys) rs1028494790 0.00001
NM_003227.4(TFR2):c.2259C>T (p.Ser753=) rs1030428409 0.00001
NM_003227.4(TFR2):c.2274C>T (p.Thr758=) rs777761117 0.00001
NM_003227.4(TFR2):c.2277C>T (p.Pro759=) rs748376968 0.00001
NM_003227.4(TFR2):c.2283C>T (p.Ala761=) rs778880340 0.00001
NM_003227.4(TFR2):c.2318G>A (p.Arg773Gln) rs369462289 0.00001
NM_003227.4(TFR2):c.2340C>T (p.Thr780=) rs748289130 0.00001
NM_003227.4(TFR2):c.2349G>A (p.Leu783=) rs757180293 0.00001
NM_003227.4(TFR2):c.2355G>A (p.Gly785=) rs749184953 0.00001
NM_003227.4(TFR2):c.2373C>T (p.Ser791=) rs752321424 0.00001
NM_003227.4(TFR2):c.2382C>T (p.Val794=) rs754723009 0.00001
NM_003227.4(TFR2):c.2400C>T (p.Asn800=) rs766681676 0.00001
NM_003227.4(TFR2):c.240G>A (p.Arg80=) rs769465224 0.00001
NM_003227.4(TFR2):c.246C>A (p.Ala82=) rs761515555 0.00001
NM_003227.4(TFR2):c.264G>A (p.Thr88=) rs747341157 0.00001
NM_003227.4(TFR2):c.282T>C (p.Thr94=) rs143742219 0.00001
NM_003227.4(TFR2):c.286+14C>G rs754012192 0.00001
NM_003227.4(TFR2):c.286+4A>C rs1803687135 0.00001
NM_003227.4(TFR2):c.286+9C>T rs1205031107 0.00001
NM_003227.4(TFR2):c.287-18C>G rs1803685410 0.00001
NM_003227.4(TFR2):c.287-19C>G rs763837146 0.00001
NM_003227.4(TFR2):c.306C>T (p.Val102=) rs779670334 0.00001
NM_003227.4(TFR2):c.318G>A (p.Gly106=) rs757334627 0.00001
NM_003227.4(TFR2):c.333C>T (p.Cys111=) rs767726878 0.00001
NM_003227.4(TFR2):c.414C>T (p.Ser138=) rs781487547 0.00001
NM_003227.4(TFR2):c.417C>T (p.Asp139=) rs745656362 0.00001
NM_003227.4(TFR2):c.420C>G (p.Leu140=) rs778911966 0.00001
NM_003227.4(TFR2):c.462G>A (p.Glu154=) rs761954336 0.00001
NM_003227.4(TFR2):c.473+10G>A rs201039913 0.00001
NM_003227.4(TFR2):c.474-20C>T rs777497479 0.00001
NM_003227.4(TFR2):c.474-5C>T rs1369420781 0.00001
NM_003227.4(TFR2):c.480C>G (p.Thr160=) rs779683159 0.00001
NM_003227.4(TFR2):c.510C>T (p.Ala170=) rs199819126 0.00001
NM_003227.4(TFR2):c.534C>T (p.Asp178=) rs369114121 0.00001
NM_003227.4(TFR2):c.546G>C (p.Ala182=) rs1803510127 0.00001
NM_003227.4(TFR2):c.570C>T (p.His190=) rs1178849216 0.00001
NM_003227.4(TFR2):c.572T>C (p.Val191Ala) rs776558626 0.00001
NM_003227.4(TFR2):c.614+15G>A rs1254986913 0.00001
NM_003227.4(TFR2):c.614+20G>A rs374165682 0.00001
NM_003227.4(TFR2):c.615-12C>T rs771264157 0.00001
NM_003227.4(TFR2):c.615-9G>A rs371250117 0.00001
NM_003227.4(TFR2):c.63C>T (p.Thr21=) rs1189743234 0.00001
NM_003227.4(TFR2):c.702C>T (p.Pro234=) rs2131320436 0.00001
NM_003227.4(TFR2):c.705C>T (p.Tyr235=) rs773981603 0.00001
NM_003227.4(TFR2):c.726+16C>T rs907171106 0.00001
NM_003227.4(TFR2):c.727-10G>C rs1157089802 0.00001
NM_003227.4(TFR2):c.727-18C>T rs199498865 0.00001
NM_003227.4(TFR2):c.727-6C>T rs752480106 0.00001
NM_003227.4(TFR2):c.727-7T>C rs1803497133 0.00001
NM_003227.4(TFR2):c.768G>C (p.Leu256=) rs761605882 0.00001
NM_003227.4(TFR2):c.813G>A (p.Leu271=) rs757450980 0.00001
NM_003227.4(TFR2):c.822C>G (p.Arg274=) rs1262970273 0.00001
NM_003227.4(TFR2):c.849+18G>A rs1276828235 0.00001
NM_003227.4(TFR2):c.849+20G>A rs1446559111 0.00001
NM_003227.4(TFR2):c.850-11T>C rs778515422 0.00001
NM_003227.4(TFR2):c.850-17G>A rs758378769 0.00001
NM_003227.4(TFR2):c.867C>T (p.Asp289=) rs1303532409 0.00001
NM_003227.4(TFR2):c.873G>C (p.Gly291=) rs1457191527 0.00001
NM_003227.4(TFR2):c.915C>G (p.Ser305=) rs555372856 0.00001
NM_003227.4(TFR2):c.954A>C (p.Ala318=) rs1158763486 0.00001
NM_003227.4(TFR2):c.966+1G>C rs2131318652 0.00001
NM_003227.4(TFR2):c.966+5G>A rs1319622152 0.00001
NM_003227.4(TFR2):c.966+9G>A rs1803454039 0.00001
NM_003227.4(TFR2):c.967-14C>T rs2486129186 0.00001
NM_003227.4(TFR2):c.967-15C>T rs377236414 0.00001
NM_003227.4(TFR2):c.969G>A (p.Val323=) rs1448823899 0.00001
NM_003227.4(TFR2):c.972C>T (p.His324=) rs764399097 0.00001
NM_003227.4(TFR2):c.984A>C (p.Gly328=) rs372774524 0.00001
NM_003227.4(TFR2):c.987C>T (p.Asp329=) rs749202899 0.00001
NM_003227.4(TFR2):c.99C>A (p.His33Gln) rs765387386 0.00001
NM_021175.4(HAMP):c.-25G>A rs944843686 0.00001
NM_021175.4(HAMP):c.150+15G>A rs769666853 0.00001
NM_021175.4(HAMP):c.150+19C>T rs2066319138 0.00001
NM_021175.4(HAMP):c.151-10C>T rs1362280095 0.00001
NM_021175.4(HAMP):c.151-15C>T rs745845982 0.00001
NM_021175.4(HAMP):c.151-16C>G rs780533179 0.00001
NM_021175.4(HAMP):c.155T>C (p.Met52Thr) rs749023682 0.00001
NM_021175.4(HAMP):c.189C>T (p.Phe63=) rs753934178 0.00001
NM_021175.4(HAMP):c.216C>T (p.Cys72=) rs763369315 0.00001
NM_021175.4(HAMP):c.21C>T (p.Ile7=) rs1229883420 0.00001
NM_021175.4(HAMP):c.27C>T (p.Ala9=) rs201371612 0.00001
NM_021175.4(HAMP):c.48C>T (p.Leu16=) rs990022453 0.00001
NM_021175.4(HAMP):c.63G>C (p.Leu21=) rs1410171516 0.00001
NM_021175.4(HAMP):c.72C>T (p.Gly24=) rs1189336239 0.00001
NM_021175.4(HAMP):c.90+10C>A rs754172113 0.00001
NM_021175.4(HAMP):c.91-1G>A rs761907472 0.00001
NM_021175.4(HAMP):c.99A>G (p.Gln33=) rs761276428 0.00001
NC_000006.11:g.(?_26087669)_(26091837_?)del
NC_000006.11:g.(?_26087669)_(26094454_?)del
NC_000007.13:g.(?_100218474)_(100227001_?)dup
NC_000007.13:g.(?_100224366)_(100227015_?)dup
NC_000007.13:g.(?_100226866)_(100227005_?)del
NC_000007.14:g.(?_100640676)_(100641519_?)del
NC_000007.14:g.(?_100640680)_(100641515_?)del
NM_000410.4(HFE):c.1000G>T (p.Gly334Cys)
NM_000410.4(HFE):c.1002T>C (p.Gly334=) rs2481625307
NM_000410.4(HFE):c.1006+19del rs753607766
NM_000410.4(HFE):c.1006+9G>A rs2113764431
NM_000410.4(HFE):c.1006+9del rs2481625396
NM_000410.4(HFE):c.1007-5C>T rs1158567861
NM_000410.4(HFE):c.1007-8C>T rs2481631142
NM_000410.4(HFE):c.1022_1034del (p.His341fs) rs1199530060
NM_000410.4(HFE):c.107G>A (p.Gly36Asp) rs1364493082
NM_000410.4(HFE):c.123C>T (p.Asp41=) rs1762647992
NM_000410.4(HFE):c.129T>G (p.Gly43=) rs2481601522
NM_000410.4(HFE):c.136T>C (p.Leu46=) rs1205608152
NM_000410.4(HFE):c.141T>C (p.Phe47=) rs2113749662
NM_000410.4(HFE):c.165C>T (p.Asp55=) rs2113749837
NM_000410.4(HFE):c.171G>C (p.Leu57=) rs1398948148
NM_000410.4(HFE):c.182A>G (p.Tyr61Cys) rs1684658845
NM_000410.4(HFE):c.192G>A (p.Glu64=) rs556335391
NM_000410.4(HFE):c.201T>C (p.Arg67=) rs1762655923
NM_000410.4(HFE):c.278G>T (p.Gly93Val) rs757281653
NM_000410.4(HFE):c.279G>A (p.Gly93=)
NM_000410.4(HFE):c.279G>C (p.Gly93=) rs781284630
NM_000410.4(HFE):c.279del (p.Trp94fs) rs773296212
NM_000410.4(HFE):c.27T>A (p.Leu9=)
NM_000410.4(HFE):c.295A>G (p.Thr99Ala)
NM_000410.4(HFE):c.313A>G (p.Ile105Val) rs2481603911
NM_000410.4(HFE):c.314T>G (p.Ile105Ser) rs28934596
NM_000410.4(HFE):c.340+12G>A rs1008111365
NM_000410.4(HFE):c.340+19T>C rs2481604506
NM_000410.4(HFE):c.340+8G>C
NM_000410.4(HFE):c.341-12G>A rs1407042975
NM_000410.4(HFE):c.341-1G>A rs1762684254
NM_000410.4(HFE):c.345C>A (p.Ser115=) rs1581667723
NM_000410.4(HFE):c.36G>C (p.Leu12=) rs2481576394
NM_000410.4(HFE):c.396C>G (p.Thr132=) rs369790080
NM_000410.4(HFE):c.407G>A (p.Trp136Ter) rs2481606711
NM_000410.4(HFE):c.414C>G (p.Tyr138Ter) rs780563614
NM_000410.4(HFE):c.417G>C (p.Gly139=) rs1762692865
NM_000410.4(HFE):c.432C>T (p.Asp144=) rs1308280557
NM_000410.4(HFE):c.43T>C (p.Leu15=) rs2481576516
NM_000410.4(HFE):c.440_446del (p.Glu147fs)
NM_000410.4(HFE):c.457C>T (p.Leu153=) rs2113753137
NM_000410.4(HFE):c.474A>G (p.Ala158=) rs1581668131
NM_000410.4(HFE):c.480del (p.Arg161fs) rs777018511
NM_000410.4(HFE):c.486C>G (p.Ala162=) rs148480830
NM_000410.4(HFE):c.502G>T (p.Glu168Ter) rs146519482
NM_000410.4(HFE):c.504G>A (p.Glu168=) rs1447606213
NM_000410.4(HFE):c.513G>A (p.Arg171=) rs2113753629
NM_000410.4(HFE):c.525G>A (p.Arg175=) rs1430969347
NM_000410.4(HFE):c.525G>C (p.Arg175=) rs1430969347
NM_000410.4(HFE):c.541G>A (p.Ala181Thr)
NM_000410.4(HFE):c.546C>A (p.Tyr182Ter) rs984544092
NM_000410.4(HFE):c.54G>C (p.Ala18=) rs1432538644
NM_000410.4(HFE):c.568C>T (p.Gln190Ter) rs1330944743
NM_000410.4(HFE):c.582G>A (p.Leu194=) rs2481608643
NM_000410.4(HFE):c.585G>A (p.Leu195=) rs2481608668
NM_000410.4(HFE):c.588G>A (p.Glu196=) rs2113754094
NM_000410.4(HFE):c.604T>C (p.Leu202=) rs2481608815
NM_000410.4(HFE):c.610C>T (p.Gln204Ter) rs771784900
NM_000410.4(HFE):c.616+15C>T rs1206881808
NM_000410.4(HFE):c.616+18T>G rs2481609200
NM_000410.4(HFE):c.616+9G>T rs2481609088
NM_000410.4(HFE):c.617-11T>C rs2481618660
NM_000410.4(HFE):c.622C>A (p.Pro208Thr) rs866376221
NM_000410.4(HFE):c.626del (p.Leu209fs) rs1762806344
NM_000410.4(HFE):c.663C>A (p.Thr221=) rs2481619385
NM_000410.4(HFE):c.663del (p.Thr222fs) rs2481619371
NM_000410.4(HFE):c.667C>T (p.Leu223=) rs758324886
NM_000410.4(HFE):c.675T>C (p.Cys225=) rs2481619601
NM_000410.4(HFE):c.693C>G (p.Tyr231Ter)
NM_000410.4(HFE):c.693C>T (p.Tyr231=) rs1345032097
NM_000410.4(HFE):c.699G>A (p.Gln233=) rs769080664
NM_000410.4(HFE):c.708C>T (p.Thr236=) rs2113761105
NM_000410.4(HFE):c.712A>T (p.Lys238Ter) rs1383450519
NM_000410.4(HFE):c.714G>A (p.Lys238=) rs2113761169
NM_000410.4(HFE):c.720G>A (p.Leu240=) rs1309004246
NM_000410.4(HFE):c.720G>C (p.Leu240=) rs1309004246
NM_000410.4(HFE):c.720_726dup (p.Lys243delinsGluGlyTer) rs2481620137
NM_000410.4(HFE):c.726T>C (p.Asp242=) rs2481620190
NM_000410.4(HFE):c.742G>A (p.Ala248Thr) rs2481620436
NM_000410.4(HFE):c.744C>A (p.Ala248=) rs2481620462
NM_000410.4(HFE):c.76+17C>T rs972192371
NM_000410.4(HFE):c.76+20G>A rs763724750
NM_000410.4(HFE):c.76+20G>C rs763724750
NM_000410.4(HFE):c.76+2T>C rs776994377
NM_000410.4(HFE):c.76+8C>A rs1354115687
NM_000410.4(HFE):c.76+9G>T rs2113726940
NM_000410.4(HFE):c.760A>T (p.Lys254Ter) rs1256311452
NM_000410.4(HFE):c.762del (p.Asp255fs) rs1554154042
NM_000410.4(HFE):c.769T>C (p.Leu257=) rs2113761641
NM_000410.4(HFE):c.77-16_77-11dup
NM_000410.4(HFE):c.77-5T>C rs2481600754
NM_000410.4(HFE):c.774del (p.Asn259fs)
NM_000410.4(HFE):c.792C>T (p.Tyr264=) rs780246573
NM_000410.4(HFE):c.798C>A (p.Gly266=) rs768801919
NM_000410.4(HFE):c.819C>T (p.Pro273=) rs773624350
NM_000410.4(HFE):c.832C>T (p.Gln278Ter) rs2481621832
NM_000410.4(HFE):c.840T>A (p.Tyr280Ter) rs1190990892
NM_000410.4(HFE):c.840T>C (p.Tyr280=) rs1190990892
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) rs111033563
NM_000410.4(HFE):c.849G>A (p.Gln283=) rs763692495
NM_000410.4(HFE):c.861A>G (p.Pro287=) rs1023916590
NM_000410.4(HFE):c.876C>T (p.Pro292=) rs201310322
NM_000410.4(HFE):c.892+18G>A
NM_000410.4(HFE):c.892+1G>T rs1762833218
NM_000410.4(HFE):c.892+7G>A rs2113762728
NM_000410.4(HFE):c.893-18T>C
NM_000410.4(HFE):c.893-8T>C rs2481624102
NM_000410.4(HFE):c.894G>A (p.Glu298=) rs114038675
NM_000410.4(HFE):c.899C>A (p.Ser300Ter)
NM_000410.4(HFE):c.903G>C (p.Pro301=) rs372856303
NM_000410.4(HFE):c.903G>T (p.Pro301=) rs372856303
NM_000410.4(HFE):c.957C>T (p.Ile319=) rs2481624958
NM_000410.4(HFE):c.965T>C (p.Ile322Thr) rs150716212
NM_000410.4(HFE):c.968del (p.Gly323fs) rs766108842
NM_000410.4(HFE):c.978C>T (p.Phe326=) rs1581673132
NM_003227.4(TFR2):c.1026G>A (p.Gln342=) rs751280511
NM_003227.4(TFR2):c.1039G>A (p.Ala347Thr)
NM_003227.4(TFR2):c.1047A>G (p.Ser349=) rs763998097
NM_003227.4(TFR2):c.1050C>A (p.Gly350=) rs2486128942
NM_003227.4(TFR2):c.1050C>G (p.Gly350=)
NM_003227.4(TFR2):c.1053T>C (p.Leu351=) rs2486128938
NM_003227.4(TFR2):c.105G>A (p.Glu35=) rs150215166
NM_003227.4(TFR2):c.1062C>T (p.Ile354=) rs1584459503
NM_003227.4(TFR2):c.1065A>G (p.Pro355=) rs2486128910
NM_003227.4(TFR2):c.1068C>T (p.Ala356=) rs2131318288
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs) rs2486128874
NM_003227.4(TFR2):c.1074C>T (p.Pro358=) rs780417157
NM_003227.4(TFR2):c.1086C>T (p.Asp362=) rs2486128846
NM_003227.4(TFR2):c.1095C>G (p.Ser365=) rs753945775
NM_003227.4(TFR2):c.1099C>T (p.Leu367=) rs2131318200
NM_003227.4(TFR2):c.1101G>C (p.Leu367=) rs1584459424
NM_003227.4(TFR2):c.1104G>C (p.Leu368=) rs766143658
NM_003227.4(TFR2):c.1106+13T>C rs1464488680
NM_003227.4(TFR2):c.1106+15G>A rs2486128706
NM_003227.4(TFR2):c.1106+18G>T rs2486128696
NM_003227.4(TFR2):c.1106+20C>T rs929108198
NM_003227.4(TFR2):c.1106+2T>G rs762648897
NM_003227.4(TFR2):c.1106+7G>T rs1207873255
NM_003227.4(TFR2):c.1107-11C>G rs2486126977
NM_003227.4(TFR2):c.1107-15C>T rs1050275436
NM_003227.4(TFR2):c.1107-19C>T rs2486127007
NM_003227.4(TFR2):c.1107-20del
NM_003227.4(TFR2):c.1107-20dup
NM_003227.4(TFR2):c.1107-3C>T rs1421153041
NM_003227.4(TFR2):c.1107-4C>A rs1355173070
NM_003227.4(TFR2):c.1107-4C>G rs1355173070
NM_003227.4(TFR2):c.1107-8C>G rs2486126967
NM_003227.4(TFR2):c.1113C>A (p.Leu371=) rs1185718641
NM_003227.4(TFR2):c.1115_1116del (p.Lys372fs) rs1803418157
NM_003227.4(TFR2):c.1117G>C (p.Gly373Arg) rs1803418029
NM_003227.4(TFR2):c.111A>G (p.Glu37=) rs2486147796
NM_003227.4(TFR2):c.1132dup (p.Gln378fs) rs753747243
NM_003227.4(TFR2):c.1146G>A (p.Gly382=) rs2486126839
NM_003227.4(TFR2):c.1146G>C (p.Gly382=) rs2486126839
NM_003227.4(TFR2):c.1152C>T (p.Leu384=) rs2131317162
NM_003227.4(TFR2):c.1158C>T (p.Gly386=) rs759064628
NM_003227.4(TFR2):c.1163del (p.Pro388fs) rs1422733588
NM_003227.4(TFR2):c.1170C>T (p.His390=) rs1184777850
NM_003227.4(TFR2):c.1179del (p.Pro395fs) rs2486126656
NM_003227.4(TFR2):c.1185A>G (p.Pro395=) rs2131317088
NM_003227.4(TFR2):c.1188A>G (p.Arg396=) rs2486126600
NM_003227.4(TFR2):c.1191G>A (p.Leu397=)
NM_003227.4(TFR2):c.1192C>G (p.Arg398Gly) rs138189378
NM_003227.4(TFR2):c.1200G>A (p.Val400=)
NM_003227.4(TFR2):c.1205dup (p.Asn402fs)
NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) rs144917130
NM_003227.4(TFR2):c.1206C>T (p.Asn402=) rs144917130
NM_003227.4(TFR2):c.1209T>C (p.Asn403=) rs2486126513
NM_003227.4(TFR2):c.1224C>A (p.Thr408=) rs1438781560
NM_003227.4(TFR2):c.123G>C (p.Gly41=) rs779980249
NM_003227.4(TFR2):c.1248C>T (p.Cys416=) rs2131316970
NM_003227.4(TFR2):c.124del (p.Glu42fs) rs2486147767
NM_003227.4(TFR2):c.1251C>A (p.Ile417=) rs747076627
NM_003227.4(TFR2):c.1251C>T (p.Ile417=) rs747076627
NM_003227.4(TFR2):c.1257C>G (p.Gly419=) rs2486126389
NM_003227.4(TFR2):c.1270+10G>A rs2131316913
NM_003227.4(TFR2):c.1270+11T>G rs777383473
NM_003227.4(TFR2):c.1270+12G>A rs2486126315
NM_003227.4(TFR2):c.1270+16A>T rs185470250
NM_003227.4(TFR2):c.1270+7T>A rs2131316920
NM_003227.4(TFR2):c.1271-18_1271-17del
NM_003227.4(TFR2):c.1271-4C>G rs1803364274
NM_003227.4(TFR2):c.1271-6C>T rs2486123222
NM_003227.4(TFR2):c.1271-8C>T rs2486123225
NM_003227.4(TFR2):c.1288G>C (p.Gly430Arg) rs780902940
NM_003227.4(TFR2):c.1293C>T (p.Ala431=) rs2131315021
NM_003227.4(TFR2):c.1300G>A (p.Asp434Asn) rs887907860
NM_003227.4(TFR2):c.1305A>C (p.Ala435=) rs372014293
NM_003227.4(TFR2):c.1350C>A (p.Leu450=) rs772076371
NM_003227.4(TFR2):c.1350C>T (p.Leu450=) rs772076371
NM_003227.4(TFR2):c.1359G>C (p.Leu453=) rs2486122961
NM_003227.4(TFR2):c.1362G>A (p.Val454=) rs2131314908
NM_003227.4(TFR2):c.1368C>A (p.Thr456=) rs2486122900
NM_003227.4(TFR2):c.1371T>C (p.Phe457=) rs148855326
NM_003227.4(TFR2):c.1374C>T (p.Ser458=) rs2486122890
NM_003227.4(TFR2):c.1391-12C>T rs2486120531
NM_003227.4(TFR2):c.1391-14C>T
NM_003227.4(TFR2):c.1391-1G>A rs773320398
NM_003227.4(TFR2):c.1391-4C>A rs2131313696
NM_003227.4(TFR2):c.1391-5C>T rs1418482182
NM_003227.4(TFR2):c.1398del (p.Arg468fs) rs773050231
NM_003227.4(TFR2):c.1401C>T (p.Pro467=) rs1562839276
NM_003227.4(TFR2):c.1405A>C (p.Arg469=) rs2486120446
NM_003227.4(TFR2):c.1416C>T (p.Leu472=) rs1214413763
NM_003227.4(TFR2):c.142T>C (p.Leu48=) rs2486147722
NM_003227.4(TFR2):c.1455C>A (p.Gly485=) rs2131313605
NM_003227.4(TFR2):c.1455C>T (p.Gly485=) rs2131313605
NM_003227.4(TFR2):c.1464G>A (p.Glu488=)
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter) rs1803324863
NM_003227.4(TFR2):c.1467_1468delinsAT (p.Trp489_Leu490delinsTer) rs2486120240
NM_003227.4(TFR2):c.1473+10G>T rs374546301
NM_003227.4(TFR2):c.1473+11G>A rs2486120155
NM_003227.4(TFR2):c.1473+11del rs771822800
NM_003227.4(TFR2):c.1473+12T>C rs774161209
NM_003227.4(TFR2):c.1473+13C>G rs200201634
NM_003227.4(TFR2):c.1473+1G>A rs2131313564
NM_003227.4(TFR2):c.1473+7C>G rs772014889
NM_003227.4(TFR2):c.1474-11C>T rs2486119955
NM_003227.4(TFR2):c.1474-8A>G rs1272452597
NM_003227.4(TFR2):c.1479C>T (p.Tyr493=) rs2486119813
NM_003227.4(TFR2):c.1485C>T (p.Ser495=) rs373415641
NM_003227.4(TFR2):c.1486G>A (p.Val496Met) rs777532178
NM_003227.4(TFR2):c.1491G>C (p.Leu497=) rs2131313368
NM_003227.4(TFR2):c.1503C>G (p.Ala501=) rs754040201
NM_003227.4(TFR2):c.1512C>T (p.Tyr504=) rs761009757
NM_003227.4(TFR2):c.1518C>T (p.Ser506=) rs762832274
NM_003227.4(TFR2):c.1521G>A (p.Leu507=) rs1803319802
NM_003227.4(TFR2):c.1537+12C>G rs1333878515
NM_003227.4(TFR2):c.1537+16G>A rs1391747836
NM_003227.4(TFR2):c.1537+18C>T rs1803318604
NM_003227.4(TFR2):c.1537+8G>T rs1246851167
NM_003227.4(TFR2):c.1538-10C>T rs2486119371
NM_003227.4(TFR2):c.1538-13_1538-9del rs778860645
NM_003227.4(TFR2):c.1538-15C>T rs2486119400
NM_003227.4(TFR2):c.1538-18CCCCT[3] rs778860645
NM_003227.4(TFR2):c.1538-1G>A rs1803316195
NM_003227.4(TFR2):c.1538-4C>T rs899733813
NM_003227.4(TFR2):c.1538-5T>A rs2131313116
NM_003227.4(TFR2):c.1538-5T>C rs2131313116
NM_003227.4(TFR2):c.1538-6T>C rs2486119333
NM_003227.4(TFR2):c.1538-8T>A rs2131313118
NM_003227.4(TFR2):c.1554T>C (p.His518=) rs765131429
NM_003227.4(TFR2):c.1560G>A (p.Lys520=) rs1803315193
NM_003227.4(TFR2):c.156C>T (p.Cys52=) rs1324111442
NM_003227.4(TFR2):c.1575G>A (p.Leu525=) rs886061833
NM_003227.4(TFR2):c.1578A>G (p.Thr526=) rs1228060941
NM_003227.4(TFR2):c.1584C>T (p.Leu528=) rs1803314360
NM_003227.4(TFR2):c.1593T>C (p.Ser531=) rs2486119110
NM_003227.4(TFR2):c.1596C>T (p.Val532=) rs1051822153
NM_003227.4(TFR2):c.1599G>A (p.Leu533=) rs1222647216
NM_003227.4(TFR2):c.159C>T (p.Pro53=) rs2486147700
NM_003227.4(TFR2):c.1602G>A (p.Lys534=) rs1323881081
NM_003227.4(TFR2):c.1605+10C>G rs577722163
NM_003227.4(TFR2):c.1605+10C>T rs577722163
NM_003227.4(TFR2):c.1605+19T>G rs978913572
NM_003227.4(TFR2):c.1605+7G>A rs2486119071
NM_003227.4(TFR2):c.1606-15T>C rs754890555
NM_003227.4(TFR2):c.1606-20T>G rs2486118897
NM_003227.4(TFR2):c.1606-4C>T rs2131312825
NM_003227.4(TFR2):c.1606-5C>A rs2486118840
NM_003227.4(TFR2):c.1606-5C>T rs2486118840
NM_003227.4(TFR2):c.1606-6C>T rs376917998
NM_003227.4(TFR2):c.1606-8A>T
NM_003227.4(TFR2):c.1608G>C (p.Val536=) rs890421829
NM_003227.4(TFR2):c.1617C>A (p.Pro539=) rs1408470468
NM_003227.4(TFR2):c.1629G>A (p.Gly543=) rs2131312753
NM_003227.4(TFR2):c.1629del (p.Gln544fs) rs749211542
NM_003227.4(TFR2):c.1635T>C (p.Thr545=) rs2486118747
NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer) rs1803309728
NM_003227.4(TFR2):c.1644A>G (p.Glu548=) rs2131312732
NM_003227.4(TFR2):c.1665C>T (p.Pro555=) rs1803308839
NM_003227.4(TFR2):c.1682+10G>A rs751258355
NM_003227.4(TFR2):c.1682+11G>A rs372807620
NM_003227.4(TFR2):c.1682+11G>T rs372807620
NM_003227.4(TFR2):c.1682+12G>T
NM_003227.4(TFR2):c.1682+13G>A rs566516530
NM_003227.4(TFR2):c.1682+13_1682+14dup rs563694182
NM_003227.4(TFR2):c.1682+14G>A rs762251269
NM_003227.4(TFR2):c.1682+14del rs563694182
NM_003227.4(TFR2):c.1682+14dup rs563694182
NM_003227.4(TFR2):c.1682+18G>A
NM_003227.4(TFR2):c.1682+1G>A
NM_003227.4(TFR2):c.1682+1G>C
NM_003227.4(TFR2):c.1682+20A>G
NM_003227.4(TFR2):c.1682+8G>C rs1357813557
NM_003227.4(TFR2):c.1682+8G>T rs1357813557
NM_003227.4(TFR2):c.1682+9G>A rs41295906
NM_003227.4(TFR2):c.1682+9G>C rs41295906
NM_003227.4(TFR2):c.1682+9G>T rs41295906
NM_003227.4(TFR2):c.1683-11C>A rs1289257053
NM_003227.4(TFR2):c.1683-19C>G rs963878047
NM_003227.4(TFR2):c.1686C>A (p.Ile562=) rs2131312496
NM_003227.4(TFR2):c.1698C>T (p.Pro566=) rs560458124
NM_003227.4(TFR2):c.1704C>T (p.Asp568=) rs1803303920
NM_003227.4(TFR2):c.1713C>T (p.Ala571=) rs1803303583
NM_003227.4(TFR2):c.1725G>C (p.Thr575=)
NM_003227.4(TFR2):c.1728C>T (p.Ala576=) rs1803303178
NM_003227.4(TFR2):c.1740C>A (p.Val580=) rs769477274
NM_003227.4(TFR2):c.1746del (p.Val583fs) rs1562838535
NM_003227.4(TFR2):c.1749C>G (p.Val583=) rs1300769708
NM_003227.4(TFR2):c.1749C>T (p.Val583=) rs1300769708
NM_003227.4(TFR2):c.174C>T (p.Gly58=) rs1398812223
NM_003227.4(TFR2):c.1766A>T (p.Glu589Val)
NM_003227.4(TFR2):c.1767+13C>T rs754267660
NM_003227.4(TFR2):c.1767+1G>T rs2131312371
NM_003227.4(TFR2):c.1767+6A>T rs750051302
NM_003227.4(TFR2):c.1767+7C>G rs41295912
NM_003227.4(TFR2):c.1767+7C>T rs41295912
NM_003227.4(TFR2):c.1767+8G>A rs1803301515
NM_003227.4(TFR2):c.1768-10G>A rs1584456254
NM_003227.4(TFR2):c.1768-10G>C rs1584456254
NM_003227.4(TFR2):c.1768-14C>A
NM_003227.4(TFR2):c.1768-15A>G rs745441796
NM_003227.4(TFR2):c.1768-6T>C
NM_003227.4(TFR2):c.1768-8C>T rs1803299063
NM_003227.4(TFR2):c.1771G>C (p.Asp591His) rs1060502723
NM_003227.4(TFR2):c.1773C>T (p.Asp591=) rs2131312206
NM_003227.4(TFR2):c.1791G>A (p.Leu597=) rs2486117741
NM_003227.4(TFR2):c.1797A>G (p.Thr599=) rs2131312167
NM_003227.4(TFR2):c.17del (p.Gly6fs) rs1803700065
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) rs1803297757
NM_003227.4(TFR2):c.1812T>G (p.Tyr604Ter) rs147286030
NM_003227.4(TFR2):c.1818C>T (p.Asn606=) rs368761907
NM_003227.4(TFR2):c.1824T>C (p.His608=) rs1221947102
NM_003227.4(TFR2):c.1830G>A (p.Val610=) rs1243740555
NM_003227.4(TFR2):c.1833G>A (p.Leu611=) rs2131312099
NM_003227.4(TFR2):c.1839C>A (p.Gly613=) rs2486117625
NM_003227.4(TFR2):c.183_211del (p.Leu62fs) rs2486147588
NM_003227.4(TFR2):c.1841dup (p.Leu615fs) rs2486117611
NM_003227.4(TFR2):c.1845G>A (p.Leu615=) rs766491479
NM_003227.4(TFR2):c.1848C>G (p.Pro616=) rs1004353651
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.1860G>A (p.Gln620=)
NM_003227.4(TFR2):c.1861G>C (p.Ala621Pro) rs1425852957
NM_003227.4(TFR2):c.1862C>A (p.Ala621Asp) rs1056668646
NM_003227.4(TFR2):c.1866G>C (p.Val622=) rs2486117505
NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) rs1246737417
NM_003227.4(TFR2):c.1878A>T (p.Ala626=) rs370288878
NM_003227.4(TFR2):c.1887C>G (p.Leu629=) rs2486117406
NM_003227.4(TFR2):c.188_189delinsTT (p.Gly63Val)
NM_003227.4(TFR2):c.1890C>T (p.Leu630=) rs753158589
NM_003227.4(TFR2):c.1894C>T (p.Arg632Trp) rs755561602
NM_003227.4(TFR2):c.189C>T (p.Gly63=)
NM_003227.4(TFR2):c.18T>C (p.Gly6=)
NM_003227.4(TFR2):c.18dup (p.Leu7fs) rs2486148789
NM_003227.4(TFR2):c.1905C>T (p.His635=) rs1254243525
NM_003227.4(TFR2):c.1910G>A (p.Arg637His)
NM_003227.4(TFR2):c.1914G>A (p.Leu638=) rs1803292204
NM_003227.4(TFR2):c.1915C>T (p.Leu639=) rs1562838108
NM_003227.4(TFR2):c.1920C>T (p.Pro640=) rs539909716
NM_003227.4(TFR2):c.1923C>G (p.Leu641=) rs760383272
NM_003227.4(TFR2):c.1923C>T (p.Leu641=) rs760383272
NM_003227.4(TFR2):c.192del (p.Arg65fs) rs2486147622
NM_003227.4(TFR2):c.1935C>T (p.Arg645=) rs2486117216
NM_003227.4(TFR2):c.1938C>A (p.Tyr646Ter) rs1324815806
NM_003227.4(TFR2):c.1938C>G (p.Tyr646Ter) rs1324815806
NM_003227.4(TFR2):c.1941G>C (p.Gly647=) rs111760099
NM_003227.4(TFR2):c.1942del (p.Asp648fs) rs2486117181
NM_003227.4(TFR2):c.1944C>T (p.Asp648=) rs1255780295
NM_003227.4(TFR2):c.1945GTC[1] (p.Val650del)
NM_003227.4(TFR2):c.1947C>T (p.Val649=) rs1320384421
NM_003227.4(TFR2):c.1950C>T (p.Val650=) rs2486117146
NM_003227.4(TFR2):c.1962C>T (p.Ile654=) rs2486117103
NM_003227.4(TFR2):c.1965G>A (p.Gly655=) rs1376031416
NM_003227.4(TFR2):c.1974C>T (p.Asn658=) rs1803289281
NM_003227.4(TFR2):c.1983T>C (p.Ser661=) rs2131311740
NM_003227.4(TFR2):c.1986G>A (p.Gly662=) rs748879574
NM_003227.4(TFR2):c.1986G>C (p.Gly662=) rs748879574
NM_003227.4(TFR2):c.1990C>T (p.Leu664Phe) rs1803288651
NM_003227.4(TFR2):c.1995+10G>A
NM_003227.4(TFR2):c.1995+12C>G rs2486116946
NM_003227.4(TFR2):c.1995+13C>A rs2486116941
NM_003227.4(TFR2):c.1995+13C>T rs2486116941
NM_003227.4(TFR2):c.1995+15C>T rs1803288144
NM_003227.4(TFR2):c.1995+18C>A rs1391240383
NM_003227.4(TFR2):c.1995+18C>T rs1391240383
NM_003227.4(TFR2):c.1995+20C>G
NM_003227.4(TFR2):c.1995+20C>T
NM_003227.4(TFR2):c.1995+7G>A rs2486116970
NM_003227.4(TFR2):c.1996-10C>T rs2486115469
NM_003227.4(TFR2):c.1996-13C>G
NM_003227.4(TFR2):c.1996-15G>A rs2486115491
NM_003227.4(TFR2):c.1996-17G>C rs1369977970
NM_003227.4(TFR2):c.1996-5C>A
NM_003227.4(TFR2):c.1996-5C>G rs1179519549
NM_003227.4(TFR2):c.1996-6C>T rs780227696
NM_003227.4(TFR2):c.1996-8C>T rs1162440051
NM_003227.4(TFR2):c.2001C>A (p.Arg667=) rs1288268428
NM_003227.4(TFR2):c.2007G>A (p.Leu669=) rs2486115328
NM_003227.4(TFR2):c.2008A>C (p.Thr670Pro) rs2486115324
NM_003227.4(TFR2):c.2018G>A (p.Trp673Ter) rs1411667989
NM_003227.4(TFR2):c.201G>A (p.Arg67=) rs1338232824
NM_003227.4(TFR2):c.2025C>T (p.Tyr675=) rs1405776096
NM_003227.4(TFR2):c.2028G>A (p.Ser676=)
NM_003227.4(TFR2):c.2028G>C (p.Ser676=) rs1156659450
NM_003227.4(TFR2):c.2028G>T (p.Ser676=) rs1156659450
NM_003227.4(TFR2):c.2031G>A (p.Ala677=)
NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) rs786204108
NM_003227.4(TFR2):c.2034G>T (p.Arg678=) rs1487185357
NM_003227.4(TFR2):c.2038dup (p.Asp680fs) rs1562837669
NM_003227.4(TFR2):c.2040C>T (p.Asp680=) rs1245507016
NM_003227.4(TFR2):c.2052G>A (p.Ala684=) rs2486115139
NM_003227.4(TFR2):c.2055G>A (p.Ala685=) rs2131311087
NM_003227.4(TFR2):c.2055G>T (p.Ala685=) rs2131311087
NM_003227.4(TFR2):c.2067G>A (p.Arg689=) rs1166079989
NM_003227.4(TFR2):c.2067G>T (p.Arg689=) rs1166079989
NM_003227.4(TFR2):c.2071_2073del (p.Glu691del) rs1803269290
NM_003227.4(TFR2):c.2076C>T (p.Ile692=) rs1489691312
NM_003227.4(TFR2):c.2079C>G (p.Tyr693Ter) rs2486114991
NM_003227.4(TFR2):c.207A>G (p.Pro69=) rs2486147595
NM_003227.4(TFR2):c.2084C>A (p.Ser695Ter) rs1188426077
NM_003227.4(TFR2):c.2085G>A (p.Ser695=) rs150303632
NM_003227.4(TFR2):c.2085G>T (p.Ser695=) rs150303632
NM_003227.4(TFR2):c.2089_2095dup (p.Asp699fs) rs2486114892
NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs) rs1562837561
NM_003227.4(TFR2):c.2096_2100del (p.Asp699fs) rs2486114850
NM_003227.4(TFR2):c.2097C>T (p.Asp699=) rs377748462
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter) rs946552921
NM_003227.4(TFR2):c.2103A>G (p.Arg701=) rs2486114818
NM_003227.4(TFR2):c.2104C>T (p.Leu702=) rs915116859
NM_003227.4(TFR2):c.2105T>C (p.Leu702Pro) rs1803265980
NM_003227.4(TFR2):c.2106G>A (p.Leu702=) rs1300747573
NM_003227.4(TFR2):c.2111G>A (p.Arg704His) rs1562837528
NM_003227.4(TFR2):c.2111G>T (p.Arg704Leu) rs1562837528
NM_003227.4(TFR2):c.2124G>T (p.Val708=) rs2486114711
NM_003227.4(TFR2):c.2127C>T (p.Arg709=) rs2486114706
NM_003227.4(TFR2):c.2136+10C>T rs1584455368
NM_003227.4(TFR2):c.2136+15_2136+28del rs953452316
NM_003227.4(TFR2):c.2136+1G>A rs781427471
NM_003227.4(TFR2):c.2136+1G>C rs781427471
NM_003227.4(TFR2):c.2136+20G>C rs745921869
NM_003227.4(TFR2):c.2136+20G>T rs745921869
NM_003227.4(TFR2):c.2137-10C>G rs2486102919
NM_003227.4(TFR2):c.2137-10C>T rs2486102919
NM_003227.4(TFR2):c.2137-12C>A rs571430574
NM_003227.4(TFR2):c.2137-12C>G rs571430574
NM_003227.4(TFR2):c.2137-12C>T rs571430574
NM_003227.4(TFR2):c.2137-12CT[2] rs1803099346
NM_003227.4(TFR2):c.2137-13C>T rs2486102939
NM_003227.4(TFR2):c.2137-16C>A rs1191398149
NM_003227.4(TFR2):c.2137-5C>G rs374964799
NM_003227.4(TFR2):c.2137-7T>C rs2486102910
NM_003227.4(TFR2):c.2148C>T (p.Tyr716=) rs1249770771
NM_003227.4(TFR2):c.2162del (p.Tyr721fs) rs2131304244
NM_003227.4(TFR2):c.2166G>A (p.Val722=) rs1242357910
NM_003227.4(TFR2):c.2169G>C (p.Ser723=) rs776336894
NM_003227.4(TFR2):c.2178C>T (p.Asp726=) rs1397856341
NM_003227.4(TFR2):c.2181C>G (p.Ser727=) rs1456739161
NM_003227.4(TFR2):c.2183dup (p.Phe729fs) rs1803096138
NM_003227.4(TFR2):c.2184G>C (p.Pro728=) rs982999802
NM_003227.4(TFR2):c.2184G>T (p.Pro728=) rs982999802
NM_003227.4(TFR2):c.2190C>G (p.Arg730=) rs1803095460
NM_003227.4(TFR2):c.2193C>T (p.His731=) rs1803095211
NM_003227.4(TFR2):c.2199C>T (p.Phe733=) rs2486102678
NM_003227.4(TFR2):c.219C>T (p.Pro73=) rs1803688731
NM_003227.4(TFR2):c.2217C>T (p.His739=) rs2486102652
NM_003227.4(TFR2):c.2220G>A (p.Thr740=) rs974022495
NM_003227.4(TFR2):c.2220G>C (p.Thr740=) rs974022495
NM_003227.4(TFR2):c.2221C>G (p.Leu741Val)
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) rs1463281712
NM_003227.4(TFR2):c.2232G>C (p.Leu744=) rs1386744933
NM_003227.4(TFR2):c.2236dup (p.Asp746fs) rs777027788
NM_003227.4(TFR2):c.2241C>T (p.His747=) rs763782433
NM_003227.4(TFR2):c.2242C>T (p.Leu748=) rs760427749
NM_003227.4(TFR2):c.2245C>A (p.Arg749=) rs987041183
NM_003227.4(TFR2):c.2256C>G (p.Arg752=) rs963087261
NM_003227.4(TFR2):c.2256C>T (p.Arg752=) rs963087261
NM_003227.4(TFR2):c.225G>T (p.Ala75=) rs148140889
NM_003227.4(TFR2):c.2271G>A (p.Gly757=) rs1387410683
NM_003227.4(TFR2):c.2274C>G (p.Thr758=) rs777761117
NM_003227.4(TFR2):c.2280G>A (p.Gly760=) rs1193611482
NM_003227.4(TFR2):c.2280G>C (p.Gly760=) rs1193611482
NM_003227.4(TFR2):c.2281dup (p.Ala761fs) rs2486102360
NM_003227.4(TFR2):c.2292C>A (p.Ser764=) rs2486102332
NM_003227.4(TFR2):c.2292C>T (p.Ser764=) rs2486102332
NM_003227.4(TFR2):c.2301C>T (p.Phe767=) rs2131303994
NM_003227.4(TFR2):c.2321_2323del (p.Arg774del)
NM_003227.4(TFR2):c.2331C>T (p.Ala777=) rs2131303942
NM_003227.4(TFR2):c.2332C>T (p.Leu778=) rs2486102202
NM_003227.4(TFR2):c.2334G>A (p.Leu778=) rs2486102193
NM_003227.4(TFR2):c.2337C>G (p.Leu779=) rs2486102175
NM_003227.4(TFR2):c.2340C>G (p.Thr780=) rs748289130
NM_003227.4(TFR2):c.2346G>T (p.Thr782=) rs367723987
NM_003227.4(TFR2):c.2379T>C (p.Asp793=) rs2486102031
NM_003227.4(TFR2):c.2394T>C (p.Asp798=) rs1803082293
NM_003227.4(TFR2):c.249C>G (p.Pro83=) rs2131327736
NM_003227.4(TFR2):c.249C>T (p.Pro83=) rs2131327736
NM_003227.4(TFR2):c.24C>T (p.Phe8=) rs751672078
NM_003227.4(TFR2):c.252C>A (p.Tyr84Ter) rs776441721
NM_003227.4(TFR2):c.253C>T (p.Leu85=) rs2131327726
NM_003227.4(TFR2):c.253del (p.Leu85fs) rs1426704853
NM_003227.4(TFR2):c.255G>T (p.Leu85=) rs2131327723
NM_003227.4(TFR2):c.258C>T (p.Val86=) rs2486147466
NM_003227.4(TFR2):c.267C>T (p.Ala89=) rs1363160491
NM_003227.4(TFR2):c.268C>T (p.Leu90=)
NM_003227.4(TFR2):c.270G>A (p.Leu90=) rs1584464593
NM_003227.4(TFR2):c.273G>C (p.Leu91=) rs1584464589
NM_003227.4(TFR2):c.283G>A (p.Gly95Arg)
NM_003227.4(TFR2):c.286+11T>A
NM_003227.4(TFR2):c.286+11T>C rs1281853114
NM_003227.4(TFR2):c.286+12C>A rs1212921182
NM_003227.4(TFR2):c.286+16C>G rs751298741
NM_003227.4(TFR2):c.286+16C>T rs751298741
NM_003227.4(TFR2):c.286+18C>T rs1312006597
NM_003227.4(TFR2):c.286+1G>T rs756989018
NM_003227.4(TFR2):c.286+2T>C rs1562845204
NM_003227.4(TFR2):c.287-12G>A
NM_003227.4(TFR2):c.287-2A>T rs774862156
NM_003227.4(TFR2):c.287-4C>T rs1803685000
NM_003227.4(TFR2):c.287-6dup rs1803685169
NM_003227.4(TFR2):c.2T>G (p.Met1Arg) rs2131328398
NM_003227.4(TFR2):c.309C>T (p.Ala103=) rs1803683295
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.318del (p.Ser107fs) rs2131327564
NM_003227.4(TFR2):c.33+10G>A rs2486148755
NM_003227.4(TFR2):c.33+11T>C rs1359296827
NM_003227.4(TFR2):c.33+14G>A rs2486148749
NM_003227.4(TFR2):c.33+17T>A rs760479718
NM_003227.4(TFR2):c.33+1del rs1803699632
NM_003227.4(TFR2):c.330G>C (p.Ala110=) rs542567285
NM_003227.4(TFR2):c.330G>T (p.Ala110=) rs542567285
NM_003227.4(TFR2):c.339C>T (p.Asp113=) rs2131327530
NM_003227.4(TFR2):c.34-10G>A rs748518852
NM_003227.4(TFR2):c.34-17C>T rs2486148030
NM_003227.4(TFR2):c.34-18C>T rs2486148035
NM_003227.4(TFR2):c.34-2A>G rs1803693127
NM_003227.4(TFR2):c.34-5C>T rs2131328012
NM_003227.4(TFR2):c.348G>A (p.Leu116=) rs2486147079
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) rs2131328001
NM_003227.4(TFR2):c.351G>A (p.Val117=) rs2131327509
NM_003227.4(TFR2):c.360G>A (p.Glu120=) rs2131327501
NM_003227.4(TFR2):c.369C>T (p.Asn123=) rs1438161376
NM_003227.4(TFR2):c.399C>G (p.Gly133=) rs1418842429
NM_003227.4(TFR2):c.401_402dup (p.Leu135fs) rs1388444100
NM_003227.4(TFR2):c.402A>G (p.Arg134=) rs2486146961
NM_003227.4(TFR2):c.405C>T (p.Leu135=) rs2131327461
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) rs868823304
NM_003227.4(TFR2):c.407A>C (p.Tyr136Ser) rs1391879497
NM_003227.4(TFR2):c.42G>A (p.Leu14=) rs1803692894
NM_003227.4(TFR2):c.42G>T (p.Leu14=) rs1803692894
NM_003227.4(TFR2):c.433C>T (p.Leu145=) rs1584464423
NM_003227.4(TFR2):c.444G>A (p.Leu148=) rs2486146805
NM_003227.4(TFR2):c.444G>C (p.Leu148=) rs2486146805
NM_003227.4(TFR2):c.447G>C (p.Gly149=) rs41302366
NM_003227.4(TFR2):c.458_473+6del rs2486146751
NM_003227.4(TFR2):c.465C>T (p.Asp155=) rs1803679185
NM_003227.4(TFR2):c.471C>T (p.Ile157=) rs2131327393
NM_003227.4(TFR2):c.473+14T>A rs1434947775
NM_003227.4(TFR2):c.473+14T>C rs1434947775
NM_003227.4(TFR2):c.473+17C>A rs1803678569
NM_003227.4(TFR2):c.473+18C>G rs2486146716
NM_003227.4(TFR2):c.473+19C>T rs778823912
NM_003227.4(TFR2):c.474-10C>T rs2486135303
NM_003227.4(TFR2):c.474-1G>A rs2131320942
NM_003227.4(TFR2):c.474-35_474-6del rs745347320
NM_003227.4(TFR2):c.474-4T>G rs754506665
NM_003227.4(TFR2):c.47_48del (p.Pro16fs)
NM_003227.4(TFR2):c.484del (p.Leu162fs) rs2131320933
NM_003227.4(TFR2):c.486T>C (p.Leu162=) rs1167945529
NM_003227.4(TFR2):c.495G>A (p.Arg165=) rs2131320904
NM_003227.4(TFR2):c.49A>G (p.Arg17Gly)
NM_003227.4(TFR2):c.501A>C (p.Ala167=) rs1228050493
NM_003227.4(TFR2):c.504C>A (p.Gly168=) rs1458709458
NM_003227.4(TFR2):c.507G>C (p.Ser169=) rs1280667602
NM_003227.4(TFR2):c.519C>T (p.Ala173=) rs1043904278
NM_003227.4(TFR2):c.523_524del (p.Leu175fs) rs1803510959
NM_003227.4(TFR2):c.529C>T (p.Gln177Ter) rs1034968542
NM_003227.4(TFR2):c.540C>T (p.Arg180=) rs2486135006
NM_003227.4(TFR2):c.54C>A (p.Ser18=) rs2486147931
NM_003227.4(TFR2):c.552C>G (p.Ser184=) rs1391229425
NM_003227.4(TFR2):c.552C>T (p.Ser184=) rs1391229425
NM_003227.4(TFR2):c.555C>G (p.Arg185=) rs769507636
NM_003227.4(TFR2):c.570C>A (p.His190Gln) rs1178849216
NM_003227.4(TFR2):c.585G>A (p.Thr195=) rs1197406517
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter) rs2486147926
NM_003227.4(TFR2):c.594G>T (p.Val198=) rs2486134875
NM_003227.4(TFR2):c.597G>A (p.Gly199=) rs2486134863
NM_003227.4(TFR2):c.600G>A (p.Leu200=) rs2131320756
NM_003227.4(TFR2):c.600G>C (p.Leu200=) rs2131320756
NM_003227.4(TFR2):c.606C>T (p.Phe202=) rs2131320749
NM_003227.4(TFR2):c.609G>A (p.Pro203=) rs1803508613
NM_003227.4(TFR2):c.60G>A (p.Gln20=) rs2131327980
NM_003227.4(TFR2):c.614+14C>T rs2486134764
NM_003227.4(TFR2):c.614+17G>A rs2131320701
NM_003227.4(TFR2):c.614+18C>T rs1398792897
NM_003227.4(TFR2):c.614+1G>C rs1584460907
NM_003227.4(TFR2):c.615-16C>T rs1401590457
NM_003227.4(TFR2):c.615-4C>G rs2131320575
NM_003227.4(TFR2):c.615-4C>T rs2131320575
NM_003227.4(TFR2):c.615-6C>T rs1426595023
NM_003227.4(TFR2):c.636C>A (p.His212Gln)
NM_003227.4(TFR2):c.63C>A (p.Thr21=) rs1189743234
NM_003227.4(TFR2):c.63_66del (p.Val22fs) rs2486147898
NM_003227.4(TFR2):c.63del (p.Val22fs) rs2131327975
NM_003227.4(TFR2):c.651C>A (p.Ala217=) rs2486134380
NM_003227.4(TFR2):c.651C>T (p.Ala217=) rs2486134380
NM_003227.4(TFR2):c.654G>C (p.Gly218=)
NM_003227.4(TFR2):c.660C>A (p.Val220=) rs2131320508
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) rs763292953
NM_003227.4(TFR2):c.663A>C (p.Gly221=) rs2486134337
NM_003227.4(TFR2):c.664G>A (p.Glu222Lys)
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.66C>T (p.Val22=) rs1196004706
NM_003227.4(TFR2):c.672G>A (p.Leu224=) rs1392663925
NM_003227.4(TFR2):c.681G>A (p.Glu227=) rs2486134256
NM_003227.4(TFR2):c.684C>T (p.Asp228=) rs2486134243
NM_003227.4(TFR2):c.689_690del (p.Asp230fs) rs2486134236
NM_003227.4(TFR2):c.696C>T (p.Tyr232=) rs1803501914
NM_003227.4(TFR2):c.714C>T (p.Ile238=) rs34242818
NM_003227.4(TFR2):c.717C>A (p.Gly239=) rs2486134136
NM_003227.4(TFR2):c.726+10C>T rs1803500633
NM_003227.4(TFR2):c.726+12C>T rs1803500473
NM_003227.4(TFR2):c.726+8C>A rs1803500754
NM_003227.4(TFR2):c.726+8C>T rs1803500754
NM_003227.4(TFR2):c.726+9C>A rs372020405
NM_003227.4(TFR2):c.727-10G>A rs1157089802
NM_003227.4(TFR2):c.727-10G>T rs1157089802
NM_003227.4(TFR2):c.727-11C>G rs779112569
NM_003227.4(TFR2):c.727-13C>A rs2486133864
NM_003227.4(TFR2):c.727-20C>T rs1803497460
NM_003227.4(TFR2):c.727-2A>G rs2486133812
NM_003227.4(TFR2):c.727-5C>G rs2486133827
NM_003227.4(TFR2):c.727-5C>T rs2486133827
NM_003227.4(TFR2):c.729A>G (p.Gly243=) rs1803496924
NM_003227.4(TFR2):c.733C>T (p.Leu245=) rs2131320244
NM_003227.4(TFR2):c.735G>A (p.Leu245=) rs2131320240
NM_003227.4(TFR2):c.738G>A (p.Val246=) rs2131320234
NM_003227.4(TFR2):c.73del (p.Arg25fs) rs2486147879
NM_003227.4(TFR2):c.745del (p.His249fs) rs2131320223
NM_003227.4(TFR2):c.750del (p.His249_Tyr250insTer) rs2486133707
NM_003227.4(TFR2):c.753G>A (p.Gly251=) rs2486133688
NM_003227.4(TFR2):c.753_756del (p.Arg252fs) rs2486133665
NM_003227.4(TFR2):c.756G>A (p.Arg252=) rs2486133662
NM_003227.4(TFR2):c.759C>A (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.759C>G (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.759C>T (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.75T>A (p.Arg25=) rs2131327950
NM_003227.4(TFR2):c.75T>C (p.Arg25=) rs2131327950
NM_003227.4(TFR2):c.768G>A (p.Leu256=) rs761605882
NM_003227.4(TFR2):c.771G>A (p.Gln257=) rs2486133620
NM_003227.4(TFR2):c.774C>T (p.Asp258=) rs776828897
NM_003227.4(TFR2):c.778C>A (p.Arg260=) rs1803495311
NM_003227.4(TFR2):c.780G>C (p.Arg260=) rs2131320143
NM_003227.4(TFR2):c.783C>G (p.Ala261=) rs769094432
NM_003227.4(TFR2):c.786G>A (p.Arg262=) rs1399765515
NM_003227.4(TFR2):c.789C>G (p.Gly263=) rs2131320107
NM_003227.4(TFR2):c.7C>A (p.Arg3=) rs778169466
NM_003227.4(TFR2):c.804C>T (p.Gly268=) rs1584460530
NM_003227.4(TFR2):c.807C>T (p.Arg269=) rs1584460525
NM_003227.4(TFR2):c.808C>T (p.Leu270=)
NM_003227.4(TFR2):c.819G>A (p.Val273=) rs2131320050
NM_003227.4(TFR2):c.822C>T (p.Arg274=) rs1262970273
NM_003227.4(TFR2):c.825G>T (p.Val275=) rs780798756
NM_003227.4(TFR2):c.829dup (p.Val277fs) rs2486131876
NM_003227.4(TFR2):c.840C>T (p.Phe280=) rs151198873
NM_003227.4(TFR2):c.843C>T (p.Ala281=) rs2486131799
NM_003227.4(TFR2):c.846G>A (p.Gln282=) rs2486131792
NM_003227.4(TFR2):c.849+10C>T rs2486131776
NM_003227.4(TFR2):c.849+12T>G rs2486131767
NM_003227.4(TFR2):c.849+1G>T rs1389208146
NM_003227.4(TFR2):c.849+2T>C rs2131320006
NM_003227.4(TFR2):c.849+8T>C rs2486131779
NM_003227.4(TFR2):c.850-14A>G rs1584459807
NM_003227.4(TFR2):c.850-8C>T rs756805892
NM_003227.4(TFR2):c.855C>G (p.Thr285=) rs1584459777
NM_003227.4(TFR2):c.855C>T (p.Thr285=) rs1584459777
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) rs1398396879
NM_003227.4(TFR2):c.867del (p.Phe290fs) rs2486129782
NM_003227.4(TFR2):c.870C>T (p.Phe290=) rs1803458966
NM_003227.4(TFR2):c.876T>C (p.Ala292=) rs2486129753
NM_003227.4(TFR2):c.885G>A (p.Val295=) rs899276990
NM_003227.4(TFR2):c.887T>C (p.Leu296Pro)
NM_003227.4(TFR2):c.88C>A (p.Arg30=) rs758433785
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.897A>T (p.Pro299=) rs2131318766
NM_003227.4(TFR2):c.909C>T (p.Asp303=) rs763080314
NM_003227.4(TFR2):c.912C>T (p.Phe304=) rs2486129659
NM_003227.4(TFR2):c.939G>C (p.Leu313=) rs1210760430
NM_003227.4(TFR2):c.942C>A (p.Ser314=) rs143627613
NM_003227.4(TFR2):c.951G>A (p.Gln317=) rs371045856
NM_003227.4(TFR2):c.954A>G (p.Ala318=) rs1158763486
NM_003227.4(TFR2):c.957G>A (p.Val319=) rs1803454342
NM_003227.4(TFR2):c.960T>C (p.Tyr320=) rs1584459683
NM_003227.4(TFR2):c.960T>G (p.Tyr320Ter) rs1584459683
NM_003227.4(TFR2):c.966+11G>A rs777201281
NM_003227.4(TFR2):c.966+13A>T rs2486129483
NM_003227.4(TFR2):c.966+15del rs2486129478
NM_003227.4(TFR2):c.966+20T>C rs534173191
NM_003227.4(TFR2):c.966+2_966+3del rs2131318647
NM_003227.4(TFR2):c.966+7C>G rs2486129490
NM_003227.4(TFR2):c.966+7C>T rs2486129490
NM_003227.4(TFR2):c.967-4G>A rs2131318431
NM_003227.4(TFR2):c.981T>C (p.Thr327=) rs2486129104
NM_003227.4(TFR2):c.984A>G (p.Gly328=) rs372774524
NM_003227.4(TFR2):c.990del (p.Tyr331fs) rs1414730937
NM_021175.4(HAMP):c.102T>C (p.Leu34=) rs2513558553
NM_021175.4(HAMP):c.108G>A (p.Glu36=) rs2066318734
NM_021175.4(HAMP):c.114A>G (p.Gln38=) rs2066318789
NM_021175.4(HAMP):c.138G>A (p.Arg46=) rs2513558609
NM_021175.4(HAMP):c.141C>T (p.Ala47=) rs2513558617
NM_021175.4(HAMP):c.150+16A>G rs2513558660
NM_021175.4(HAMP):c.150+7G>A rs201587159
NM_021175.4(HAMP):c.150+7G>C rs201587159
NM_021175.4(HAMP):c.151-14C>T rs2513558772
NM_021175.4(HAMP):c.151-18T>C
NM_021175.4(HAMP):c.175C>T (p.Arg59Ter) rs779021719
NM_021175.4(HAMP):c.192C>T (p.Pro64=) rs2513558859
NM_021175.4(HAMP):c.207C>T (p.Cys69=) rs2513558879
NM_021175.4(HAMP):c.208T>C (p.Cys70Arg) rs1374259518
NM_021175.4(HAMP):c.216C>A (p.Cys72Ter) rs763369315
NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr) rs863224779
NM_021175.4(HAMP):c.21C>A (p.Ile7=) rs1229883420
NM_021175.4(HAMP):c.228A>C (p.Ser76=) rs1344639816
NM_021175.4(HAMP):c.248A>G (p.Lys83Arg)
NM_021175.4(HAMP):c.27C>G (p.Ala9=) rs201371612
NM_021175.4(HAMP):c.36C>A (p.Leu12=) rs768305190
NM_021175.4(HAMP):c.40CTC[3] (p.Leu17_Leu18del) rs760383487
NM_021175.4(HAMP):c.42C>G (p.Leu14=) rs373178250
NM_021175.4(HAMP):c.45C>G (p.Leu15=) rs747626500
NM_021175.4(HAMP):c.48C>A (p.Leu16=)
NM_021175.4(HAMP):c.54C>G (p.Leu18=) rs145846674
NM_021175.4(HAMP):c.66C>T (p.Thr22=) rs776364235
NM_021175.4(HAMP):c.90+11A>G rs2513556830
NM_021175.4(HAMP):c.90+12G>A rs2066309429
NM_021175.4(HAMP):c.90+17C>G rs2513556834
NM_021175.4(HAMP):c.90+8C>T rs780585862
NM_021175.4(HAMP):c.91-12C>T rs2513558530
NM_021175.4(HAMP):c.91-14T>A rs2513558529
NM_021175.4(HAMP):c.91-16C>A rs888559115
NM_021175.4(HAMP):c.91-16C>G rs888559115
NM_021175.4(HAMP):c.91-17C>A rs769458797
NM_021175.4(HAMP):c.96A>C (p.Gly32=) rs2066318612
NM_021175.4(HAMP):c.97C>A (p.Gln33Lys) rs2066318628
NM_021175.4(HAMP):c.9G>A (p.Leu3=) rs2513556604

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