ClinVar Miner

List of variants in gene EGF studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 416
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HGVS dbSNP gnomAD frequency
NM_001963.6(EGF):c.2759A>T (p.Glu920Val) rs4698803 0.86043
NM_001963.6(EGF):c.940+286G>A rs6533482 0.54989
NM_001963.6(EGF):c.1575+175T>C rs2190907 0.54978
NM_001963.6(EGF):c.2372-130C>T rs6824594 0.52751
NM_001963.6(EGF):c.2491+276C>T rs882471 0.52170
NM_001963.6(EGF):c.-382A>G rs4444903 0.50533
NM_001963.6(EGF):c.1189+331C>A rs4698801 0.38670
NM_001963.6(EGF):c.940+11G>A rs4698756 0.38374
NM_001963.6(EGF):c.738-51A>C rs4698755 0.38359
NM_001963.6(EGF):c.128-175G>A rs10029654 0.38347
NM_001963.6(EGF):c.1439-315A>T rs3764861 0.37386
NM_001963.6(EGF):c.2053+144G>A rs11568994 0.28495
NM_001963.6(EGF):c.1189+315G>A rs9307347 0.27728
NM_001963.6(EGF):c.1313-277G>A rs11568950 0.27706
NM_001963.6(EGF):c.737+207A>G rs11568903 0.27681
NM_001963.6(EGF):c.1067-222G>A rs6837717 0.27664
NM_001963.6(EGF):c.3174-169C>A rs3733626 0.26310
NM_001963.6(EGF):c.1829+87A>C rs10002971 0.25563
NM_001963.6(EGF):c.2372-76G>A rs6825106 0.23275
NM_001963.6(EGF):c.1830-281T>G rs9995637 0.21552
NM_001963.6(EGF):c.1292G>A (p.Arg431Lys) rs11568943 0.12520
NM_001963.6(EGF):c.1576-218T>C rs11568978 0.11721
NM_001963.6(EGF):c.3174-290T>C rs56310546 0.10639
NM_001963.6(EGF):c.1190-23T>C rs11568942 0.07603
NM_001963.6(EGF):c.3174-192C>T rs3733627 0.06627
NM_001963.6(EGF):c.3174-202G>A rs3822286 0.06604
NM_001963.6(EGF):c.*393T>C rs3733625 0.06413
NM_001963.6(EGF):c.1977C>T (p.Cys659=) rs11568993 0.05347
NM_001963.6(EGF):c.3370+267G>A rs11569126 0.04543
NM_001963.6(EGF):c.2608+73C>T rs6836684 0.04378
NM_001963.6(EGF):c.2525T>C (p.Met842Thr) rs11569046 0.03492
NM_001963.6(EGF):c.2492-161C>T rs11569043 0.03421
NM_001963.6(EGF):c.509+132G>A rs11568898 0.03310
NM_001963.6(EGF):c.2608+32A>T rs6836311 0.03285
NM_001963.6(EGF):c.2492-19G>A rs11569045 0.03244
NM_001963.6(EGF):c.2492-311A>G rs11569041 0.03244
NM_001963.6(EGF):c.327+62C>T rs11568886 0.03136
NM_001963.6(EGF):c.*483C>T rs11569146 0.02943
NM_001963.6(EGF):c.3370+152G>A rs11569124 0.02931
NM_001963.6(EGF):c.2053+194G>A rs11568995 0.02868
NM_001963.6(EGF):c.127+302A>G rs11098053 0.02781
NM_001963.6(EGF):c.128-186C>T rs11568884 0.02680
NM_001963.6(EGF):c.2608+153A>C rs11569047 0.02656
NM_001963.6(EGF):c.737+141G>A rs11568902 0.02527
NM_001963.6(EGF):c.940+22G>A rs11568912 0.02520
NM_001963.6(EGF):c.264C>T (p.Ile88=) rs11568885 0.02517
NM_001963.6(EGF):c.1095T>C (p.His365=) rs11568937 0.02456
NM_001963.6(EGF):c.3005+144G>A rs11569087 0.02362
NM_001963.6(EGF):c.2372-88C>T rs6824759 0.02294
NM_001963.6(EGF):c.3370+123C>G rs11569123 0.01935
NM_001963.6(EGF):c.1438+291T>C rs11568956 0.01898
NM_001963.6(EGF):c.1576-111C>T rs41397647 0.01897
NM_001963.6(EGF):c.451C>T (p.His151Tyr) rs9991664 0.01890
NM_001963.6(EGF):c.128-79G>A rs10029765 0.01889
NM_001963.6(EGF):c.510-140G>A rs28684716 0.01889
NM_001963.6(EGF):c.1724+254T>A rs28662394 0.01888
NM_001963.6(EGF):c.1312+200T>G rs4141077 0.01838
NM_001963.6(EGF):c.737+260T>C rs11568906 0.01805
NM_001963.6(EGF):c.737+262C>T rs11568907 0.01799
NM_001963.6(EGF):c.1576-192T>A rs4698802 0.01797
NM_001963.6(EGF):c.1576-38T>A rs41475346 0.01748
NM_001963.6(EGF):c.3174-307A>G rs11569109 0.01728
NM_001963.6(EGF):c.1575+50A>G rs11568961 0.01719
NM_001963.6(EGF):c.1576-84T>C rs11568979 0.01681
NM_001963.6(EGF):c.2054-310A>G rs2237050 0.01675
NM_001963.6(EGF):c.127+29G>T rs11568850 0.01212
NM_001963.6(EGF):c.1380A>G (p.Glu460=) rs11568953 0.01036
NM_001963.6(EGF):c.3127C>T (p.Leu1043Phe) rs11569098 0.00920
NM_001963.6(EGF):c.1313-10G>T rs11568952 0.00915
NM_001963.6(EGF):c.3521C>A (p.Thr1174Asn) rs28592692 0.00844
NM_001963.6(EGF):c.2857+103C>G rs11569079 0.00830
NM_001963.6(EGF):c.3173+126C>G rs11098058 0.00633
NM_001963.6(EGF):c.2609-5C>A rs74379237 0.00628
NM_001963.6(EGF):c.1313-33C>T rs3733628 0.00624
NM_001963.6(EGF):c.1066+40C>T rs11568927 0.00619
NM_001963.6(EGF):c.737+91G>A rs11568901 0.00619
NM_001963.6(EGF):c.1190-39G>T rs11568941 0.00617
NM_001963.6(EGF):c.127+107T>C rs11568853 0.00617
NM_001963.6(EGF):c.510-167G>A rs11098055 0.00607
NM_001963.6(EGF):c.1914C>G (p.Ser638Arg) rs11568992 0.00601
NM_001963.6(EGF):c.769G>C (p.Asp257His) rs11568911 0.00565
NM_001963.6(EGF):c.875T>A (p.Leu292His) rs35191533 0.00553
NM_001963.6(EGF):c.46A>C (p.Ser16Arg) rs11568849 0.00538
NM_001963.6(EGF):c.3251C>G (p.Ala1084Gly) rs11569111 0.00414
NM_001963.6(EGF):c.3118G>A (p.Val1040Met) rs75935899 0.00325
NM_001963.6(EGF):c.2433G>A (p.Val811=) rs149396988 0.00314
NM_001963.6(EGF):c.1789A>G (p.Ile597Val) rs41482245 0.00245
NM_001963.6(EGF):c.1602G>A (p.Lys534=) rs140682556 0.00197
NM_001963.6(EGF):c.1723G>A (p.Gly575Arg) rs115396821 0.00185
NM_001963.6(EGF):c.2491+20C>A rs11569030 0.00183
NM_001963.6(EGF):c.1367C>A (p.Pro456Gln) rs150311153 0.00126
NM_001963.6(EGF):c.3371-4A>G rs41468451 0.00123
NM_001963.6(EGF):c.3006-11T>G rs199756953 0.00114
NM_001963.6(EGF):c.3189A>G (p.Leu1063=) rs41456944 0.00110
NM_001963.6(EGF):c.-60C>T rs191144589 0.00096
NM_001963.6(EGF):c.941-9C>A rs147880662 0.00088
NM_001963.6(EGF):c.3292-7T>C rs200524686 0.00087
NM_001963.6(EGF):c.3530G>C (p.Gly1177Ala) rs140730971 0.00080
NM_001963.6(EGF):c.2674G>A (p.Glu892Lys) rs76275519 0.00076
NM_001963.6(EGF):c.662G>C (p.Arg221Thr) rs144437729 0.00065
NM_001963.6(EGF):c.1097G>A (p.Gly366Asp) rs143612590 0.00061
NM_001963.6(EGF):c.891A>C (p.Val297=) rs146585233 0.00061
NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) rs149448320 0.00041
NM_001963.6(EGF):c.978C>T (p.Ser326=) rs145706760 0.00041
NM_001963.6(EGF):c.2940C>T (p.His980=) rs140319442 0.00034
NM_001963.6(EGF):c.1919A>G (p.Asp640Gly) rs376974586 0.00023
NM_001963.6(EGF):c.1491T>C (p.His497=) rs377445081 0.00022
NM_001963.6(EGF):c.2760G>A (p.Glu920=) rs760507781 0.00021
NM_001963.6(EGF):c.737+11C>T rs374147711 0.00021
NM_001963.6(EGF):c.1354G>A (p.Val452Ile) rs142751045 0.00019
NM_001963.6(EGF):c.1575+6G>T rs148355596 0.00017
NM_001963.6(EGF):c.1066+10G>C rs76435576 0.00015
NM_001963.6(EGF):c.1821A>G (p.Pro607=) rs200400376 0.00015
NM_001963.6(EGF):c.1684G>C (p.Val562Leu) rs769513396 0.00014
NM_001963.6(EGF):c.3099C>T (p.Val1033=) rs144628857 0.00014
NM_001963.6(EGF):c.47G>C (p.Ser16Thr) rs200394315 0.00014
NM_001963.6(EGF):c.1404C>T (p.Asp468=) rs201101453 0.00013
NM_001963.6(EGF):c.464G>A (p.Ser155Asn) rs150361543 0.00013
NM_001963.6(EGF):c.2378A>T (p.Glu793Val) rs369597497 0.00009
NM_001963.6(EGF):c.192C>A (p.Thr64=) rs367667834 0.00008
NM_001963.6(EGF):c.720T>C (p.Ile240=) rs200702456 0.00008
NM_001963.6(EGF):c.1052G>A (p.Arg351Gln) rs200099199 0.00006
NM_001963.6(EGF):c.1190-10T>C rs373046487 0.00006
NM_001963.6(EGF):c.3073G>T (p.Ala1025Ser) rs149056615 0.00006
NM_001963.6(EGF):c.638G>A (p.Arg213Gln) rs373552129 0.00006
NM_001963.6(EGF):c.887A>C (p.Lys296Thr) rs760127815 0.00005
NM_001963.6(EGF):c.1137C>T (p.Tyr379=) rs971946479 0.00004
NM_001963.6(EGF):c.1791C>G (p.Ile597Met) rs771786517 0.00004
NM_001963.6(EGF):c.1851A>G (p.Thr617=) rs763336139 0.00004
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) rs759896124 0.00004
NC_000004.12:g.110016321G>T rs755867404 0.00003
NM_001963.6(EGF):c.1980T>C (p.Asp660=) rs370201047 0.00003
NM_001963.6(EGF):c.3110C>T (p.Ala1037Val) rs572990451 0.00003
NM_001963.6(EGF):c.134C>T (p.Ala45Val) rs558295228 0.00002
NM_001963.6(EGF):c.1480C>T (p.Arg494Ter) rs753726274 0.00002
NM_001963.6(EGF):c.3481A>G (p.Met1161Val) rs1328300146 0.00002
NM_001963.6(EGF):c.3487C>T (p.Arg1163Ter) rs556105355 0.00002
NM_001963.6(EGF):c.*1990C>A rs1391664617 0.00001
NM_001963.6(EGF):c.1190-14T>C rs947696491 0.00001
NM_001963.6(EGF):c.1353C>T (p.Cys451=) rs1181224031 0.00001
NM_001963.6(EGF):c.1818T>C (p.His606=) rs139266578 0.00001
NM_001963.6(EGF):c.2372-4A>G rs1183491150 0.00001
NM_001963.6(EGF):c.2687T>C (p.Val896Ala) rs778040733 0.00001
NM_001963.6(EGF):c.3072C>T (p.His1024=) rs747903798 0.00001
NM_001963.6(EGF):c.476A>G (p.Tyr159Cys) rs763112495 0.00001
NM_001963.6(EGF):c.57T>C (p.Ser19=) rs767958539 0.00001
NM_001963.6(EGF):c.686G>T (p.Cys229Phe) rs1251037371 0.00001
NM_001963.6(EGF):c.940+16C>A rs1377118509 0.00001
NC_000004.11:g.(?_110834110)_(110932611_?)dup
NC_000004.11:g.(?_110862082)_(110901315_?)del
NC_000004.11:g.(?_110925641)_(110925798_?)del
NC_000004.12:g.109912800C>T
NM_001963.6(EGF):c.-185_87del (p.Met1fs)
NM_001963.6(EGF):c.-342C>T rs11568847
NM_001963.6(EGF):c.100G>A (p.Ala34Thr)
NM_001963.6(EGF):c.1049_1066+30dup rs539312498
NM_001963.6(EGF):c.1066+7_1066+30del
NM_001963.6(EGF):c.1066+7_1066+30dup
NM_001963.6(EGF):c.1067-82C>T rs11568934
NM_001963.6(EGF):c.1070T>C (p.Val357Ala)
NM_001963.6(EGF):c.1088G>A (p.Trp363Ter)
NM_001963.6(EGF):c.1121C>T (p.Thr374Ile)
NM_001963.6(EGF):c.1136A>T (p.Tyr379Phe)
NM_001963.6(EGF):c.1159G>A (p.Val387Ile)
NM_001963.6(EGF):c.1168C>T (p.Pro390Ser)
NM_001963.6(EGF):c.117T>A (p.Ser39=)
NM_001963.6(EGF):c.1189+1G>A rs764061176
NM_001963.6(EGF):c.1189+216dup rs999393736
NM_001963.6(EGF):c.1190-17del
NM_001963.6(EGF):c.1190-19C>T
NM_001963.6(EGF):c.1190-2A>G
NM_001963.6(EGF):c.1206A>G (p.Pro402=)
NM_001963.6(EGF):c.1207C>T (p.Arg403Cys)
NM_001963.6(EGF):c.1208G>A (p.Arg403His)
NM_001963.6(EGF):c.1231G>C (p.Asp411His)
NM_001963.6(EGF):c.1244C>T (p.Thr415Ile)
NM_001963.6(EGF):c.1262del (p.Cys421fs)
NM_001963.6(EGF):c.127+13A>G
NM_001963.6(EGF):c.127+19del
NM_001963.6(EGF):c.127+9T>C
NM_001963.6(EGF):c.1270C>T (p.Pro424Ser)
NM_001963.6(EGF):c.128-17T>C
NM_001963.6(EGF):c.1298G>A (p.Gly433Glu) rs757866419
NM_001963.6(EGF):c.1308T>C (p.Cys436=)
NM_001963.6(EGF):c.1311C>T (p.Ser437=)
NM_001963.6(EGF):c.1312+203C>T rs929446
NM_001963.6(EGF):c.1313-175C>A rs11568951
NM_001963.6(EGF):c.1313-3T>C
NM_001963.6(EGF):c.1313-92dup rs61309548
NM_001963.6(EGF):c.1326C>T (p.Pro442=)
NM_001963.6(EGF):c.1336G>A (p.Gly446Arg) rs1560698635
NM_001963.6(EGF):c.1363del (p.Ser455fs)
NM_001963.6(EGF):c.1364G>C (p.Ser455Thr)
NM_001963.6(EGF):c.1369G>A (p.Val457Ile)
NM_001963.6(EGF):c.1385A>T (p.Asp462Val)
NM_001963.6(EGF):c.1398G>A (p.Gly466=)
NM_001963.6(EGF):c.1414G>A (p.Asp472Asn)
NM_001963.6(EGF):c.1432G>C (p.Ala478Pro)
NM_001963.6(EGF):c.1438+1G>T
NM_001963.6(EGF):c.1446A>G (p.Gln482=)
NM_001963.6(EGF):c.1469del (p.Ser490fs)
NM_001963.6(EGF):c.1484A>G (p.His495Arg)
NM_001963.6(EGF):c.1487T>C (p.Met496Thr)
NM_001963.6(EGF):c.1501A>G (p.Thr501Ala)
NM_001963.6(EGF):c.1512A>G (p.Gly504=)
NM_001963.6(EGF):c.1544A>C (p.Tyr515Ser)
NM_001963.6(EGF):c.1549C>T (p.Leu517=)
NM_001963.6(EGF):c.1575+11G>A
NM_001963.6(EGF):c.1575+13del
NM_001963.6(EGF):c.1576-297ATCT[10] rs10530188
NM_001963.6(EGF):c.1576-297ATCT[11] rs10530188
NM_001963.6(EGF):c.1576-297ATCT[12] rs10530188
NM_001963.6(EGF):c.1576-297ATCT[13] rs10530188
NM_001963.6(EGF):c.1576-297ATCT[14] rs10530188
NM_001963.6(EGF):c.1576-297ATCT[8] rs10530188
NM_001963.6(EGF):c.1576-29del rs11568980
NM_001963.6(EGF):c.1585G>T (p.Ala529Ser)
NM_001963.6(EGF):c.1599G>A (p.Leu533=)
NM_001963.6(EGF):c.1636C>A (p.Arg546=)
NM_001963.6(EGF):c.163A>G (p.Ser55Gly)
NM_001963.6(EGF):c.1660G>C (p.Val554Leu)
NM_001963.6(EGF):c.1671A>G (p.Pro557=)
NM_001963.6(EGF):c.1700G>A (p.Arg567His)
NM_001963.6(EGF):c.1724+15T>A
NM_001963.6(EGF):c.1724+17A>T
NM_001963.6(EGF):c.1725-12C>A rs11568990
NM_001963.6(EGF):c.1742G>A (p.Arg581Lys) rs2126099748
NM_001963.6(EGF):c.1762C>T (p.Arg588Cys)
NM_001963.6(EGF):c.1763G>A (p.Arg588His)
NM_001963.6(EGF):c.1767C>G (p.Ser589=)
NM_001963.6(EGF):c.1829+13A>G
NM_001963.6(EGF):c.1829+18T>A
NM_001963.6(EGF):c.1829+5G>T
NM_001963.6(EGF):c.1833A>T (p.Arg611Ser)
NM_001963.6(EGF):c.1836A>G (p.Leu612=)
NM_001963.6(EGF):c.1853G>A (p.Gly618Glu) rs866358449
NM_001963.6(EGF):c.1854G>A (p.Gly618=)
NM_001963.6(EGF):c.186A>C (p.Glu62Asp)
NM_001963.6(EGF):c.1891C>T (p.Leu631Phe)
NM_001963.6(EGF):c.1898G>T (p.Arg633Leu) rs749928425
NM_001963.6(EGF):c.1917T>C (p.Ser639=)
NM_001963.6(EGF):c.1943C>T (p.Thr648Met)
NM_001963.6(EGF):c.1966T>A (p.Leu656Met)
NM_001963.6(EGF):c.2015A>G (p.Asp672Gly)
NM_001963.6(EGF):c.2039C>T (p.Thr680Ile)
NM_001963.6(EGF):c.2042A>G (p.Gln681Arg)
NM_001963.6(EGF):c.2053+19C>T
NM_001963.6(EGF):c.2053+20G>A
NM_001963.6(EGF):c.2053+6G>C
NM_001963.6(EGF):c.2053+6G>T
NM_001963.6(EGF):c.2372-15A>C
NM_001963.6(EGF):c.2372-15A>G
NM_001963.6(EGF):c.2372-7T>A
NM_001963.6(EGF):c.2373T>A (p.Gly791=)
NM_001963.6(EGF):c.2424G>C (p.Lys808Asn)
NM_001963.6(EGF):c.2432T>C (p.Val811Ala)
NM_001963.6(EGF):c.2469A>G (p.Leu823=)
NM_001963.6(EGF):c.2476G>A (p.Glu826Lys)
NM_001963.6(EGF):c.2487G>A (p.Val829=)
NM_001963.6(EGF):c.2491+12T>C
NM_001963.6(EGF):c.2491+8T>A
NM_001963.6(EGF):c.2492-20G>A rs41335850
NM_001963.6(EGF):c.2492-4G>T
NM_001963.6(EGF):c.250_252del (p.Asn84del)
NM_001963.6(EGF):c.2516G>A (p.Gly839Glu)
NM_001963.6(EGF):c.2533C>T (p.Arg845Trp)
NM_001963.6(EGF):c.2534G>A (p.Arg845Gln)
NM_001963.6(EGF):c.2534G>T (p.Arg845Leu)
NM_001963.6(EGF):c.2573T>A (p.Leu858Ter)
NM_001963.6(EGF):c.2584G>A (p.Ala862Thr)
NM_001963.6(EGF):c.2606C>T (p.Ser869Phe)
NM_001963.6(EGF):c.2608+143del rs1257155021
NM_001963.6(EGF):c.2608+284del rs11569048
NM_001963.6(EGF):c.2608+33C>A rs138116919
NM_001963.6(EGF):c.2608+348_2608+350dup rs200891546
NM_001963.6(EGF):c.2608+350del rs200891546
NM_001963.6(EGF):c.2608+350dup rs200891546
NM_001963.6(EGF):c.2608+5G>A
NM_001963.6(EGF):c.2609-38T>A
NM_001963.6(EGF):c.2613A>G (p.Ile871Met)
NM_001963.6(EGF):c.2647C>G (p.Pro883Ala)
NM_001963.6(EGF):c.2673C>A (p.Thr891=)
NM_001963.6(EGF):c.2673C>T (p.Thr891=)
NM_001963.6(EGF):c.2676A>T (p.Glu892Asp)
NM_001963.6(EGF):c.2693G>A (p.Arg898Gln) rs757524102
NM_001963.6(EGF):c.2708A>G (p.Tyr903Cys)
NM_001963.6(EGF):c.2735-185C>G rs11569074
NM_001963.6(EGF):c.2735-252_2735-251insGTT rs1390308045
NM_001963.6(EGF):c.2759_2760delinsTA (p.Glu920Val)
NM_001963.6(EGF):c.2806T>C (p.Tyr936His)
NM_001963.6(EGF):c.2815A>G (p.Met939Val)
NM_001963.6(EGF):c.2823T>A (p.Ala941=) rs1213571805
NM_001963.6(EGF):c.2827C>T (p.Arg943Cys)
NM_001963.6(EGF):c.2855C>G (p.Pro952Arg)
NM_001963.6(EGF):c.2857+226A>G rs11569080
NM_001963.6(EGF):c.288A>G (p.Gln96=)
NM_001963.6(EGF):c.2919C>T (p.Asp973=) rs1578378327
NM_001963.6(EGF):c.2943T>A (p.Asp981Glu)
NM_001963.6(EGF):c.2946G>A (p.Gly982=)
NM_001963.6(EGF):c.2975A>G (p.Tyr992Cys)
NM_001963.6(EGF):c.2984C>G (p.Ala995Gly)
NM_001963.6(EGF):c.3004A>G (p.Asn1002Asp)
NM_001963.6(EGF):c.3005+16T>C
NM_001963.6(EGF):c.3005+199C>T rs11569088
NM_001963.6(EGF):c.3005+8A>C
NM_001963.6(EGF):c.3006-111G>A rs2074389
NM_001963.6(EGF):c.3006-17T>C
NM_001963.6(EGF):c.3025G>A (p.Gly1009Arg)
NM_001963.6(EGF):c.3043C>T (p.Arg1015Ter) rs764618186
NM_001963.6(EGF):c.3048C>A (p.Asp1016Glu)
NM_001963.6(EGF):c.3051G>A (p.Leu1017=) rs1578391776
NM_001963.6(EGF):c.3068G>A (p.Arg1023His)
NM_001963.6(EGF):c.3073G>A (p.Ala1025Thr)
NM_001963.6(EGF):c.3083G>C (p.Gly1028Ala)
NM_001963.6(EGF):c.3116_3117delinsAA (p.Cys1039Ter) rs1085307789
NM_001963.6(EGF):c.3117C>T (p.Cys1039=)
NM_001963.6(EGF):c.3133A>T (p.Met1045Leu)
NM_001963.6(EGF):c.3138G>A (p.Leu1046=) rs1578392320
NM_001963.6(EGF):c.3144C>A (p.Leu1048=)
NM_001963.6(EGF):c.3155G>T (p.Trp1052Leu)
NM_001963.6(EGF):c.3158G>A (p.Gly1053Glu)
NM_001963.6(EGF):c.3159G>A (p.Gly1053=)
NM_001963.6(EGF):c.3162C>G (p.Ala1054=) rs548762791
NM_001963.6(EGF):c.316T>C (p.Ser106Pro)
NM_001963.6(EGF):c.3171C>T (p.Tyr1057=)
NM_001963.6(EGF):c.3173+15C>G
NM_001963.6(EGF):c.3173+19T>C
NM_001963.6(EGF):c.3173+6C>T
NM_001963.6(EGF):c.3174-283_3174-282insGA rs762725626
NM_001963.6(EGF):c.3174-289AC[17] rs772189572
NM_001963.6(EGF):c.3174-289AC[19] rs772189572
NM_001963.6(EGF):c.3174-289AC[20] rs772189572
NM_001963.6(EGF):c.3174-289AC[21] rs772189572
NM_001963.6(EGF):c.3174-290_3174-281del rs780924074
NM_001963.6(EGF):c.3174-290_3174-287del rs147638944
NM_001963.6(EGF):c.3174-290_3174-289del rs1553948183
NM_001963.6(EGF):c.3174-292_3174-291dup rs201017416
NM_001963.6(EGF):c.3233T>G (p.Val1078Gly)
NM_001963.6(EGF):c.3241C>T (p.Arg1081Cys)
NM_001963.6(EGF):c.328-10G>T
NM_001963.6(EGF):c.328-14A>G
NM_001963.6(EGF):c.328-15A>G
NM_001963.6(EGF):c.3283C>T (p.Gln1095Ter)
NM_001963.6(EGF):c.3291+20T>C
NM_001963.6(EGF):c.3292-16T>A
NM_001963.6(EGF):c.3292-180G>A rs11569121
NM_001963.6(EGF):c.3313C>G (p.Gln1105Glu)
NM_001963.6(EGF):c.3335A>C (p.Gln1112Pro)
NM_001963.6(EGF):c.333A>G (p.Val111=)
NM_001963.6(EGF):c.3341T>C (p.Val1114Ala)
NM_001963.6(EGF):c.3343G>T (p.Ala1115Ser)
NM_001963.6(EGF):c.3358C>T (p.Gln1120Ter)
NM_001963.6(EGF):c.3371-13G>T
NM_001963.6(EGF):c.3371-14del
NM_001963.6(EGF):c.3371-151dup rs1396675873
NM_001963.6(EGF):c.3371-1G>T
NM_001963.6(EGF):c.3371-8T>C
NM_001963.6(EGF):c.3371G>T (p.Gly1124Val)
NM_001963.6(EGF):c.3383C>A (p.Pro1128Gln)
NM_001963.6(EGF):c.3403C>T (p.Pro1135Ser)
NM_001963.6(EGF):c.3406dup (p.Gln1136fs) rs11569144
NM_001963.6(EGF):c.341T>G (p.Ile114Arg)
NM_001963.6(EGF):c.3429G>A (p.Glu1143=) rs1578422236
NM_001963.6(EGF):c.3454_3468del (p.Ser1152_Ser1156del) rs754929911
NM_001963.6(EGF):c.3458A>G (p.Asp1153Gly)
NM_001963.6(EGF):c.3475C>A (p.Gln1159Lys)
NM_001963.6(EGF):c.3484G>A (p.Glu1162Lys)
NM_001963.6(EGF):c.3492C>T (p.Ser1164=)
NM_001963.6(EGF):c.3517C>G (p.Gln1173Glu)
NM_001963.6(EGF):c.3523C>A (p.Leu1175Ile)
NM_001963.6(EGF):c.3528A>C (p.Glu1176Asp)
NM_001963.6(EGF):c.352del (p.Val118fs)
NM_001963.6(EGF):c.3537C>T (p.Val1179=)
NM_001963.6(EGF):c.3550T>C (p.Ser1184Pro)
NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr) rs2126206950
NM_001963.6(EGF):c.3613C>G (p.Leu1205Val)
NM_001963.6(EGF):c.413G>A (p.Gly138Glu) rs1215651314
NM_001963.6(EGF):c.41A>C (p.Lys14Thr)
NM_001963.6(EGF):c.453C>T (p.His151=)
NM_001963.6(EGF):c.456T>C (p.Ile152=)
NM_001963.6(EGF):c.465T>G (p.Ser155Arg)
NM_001963.6(EGF):c.481G>C (p.Ala161Pro)
NM_001963.6(EGF):c.503T>C (p.Val168Ala)
NM_001963.6(EGF):c.538G>A (p.Gly180Arg)
NM_001963.6(EGF):c.552A>G (p.Arg184=)
NM_001963.6(EGF):c.556G>C (p.Asp186His) rs28553469
NM_001963.6(EGF):c.558T>A (p.Asp186Glu)
NM_001963.6(EGF):c.562G>A (p.Asp188Asn)
NM_001963.6(EGF):c.588G>A (p.Leu196=)
NM_001963.6(EGF):c.609A>G (p.Thr203=)
NM_001963.6(EGF):c.639G>A (p.Arg213=)
NM_001963.6(EGF):c.659A>G (p.Asn220Ser)
NM_001963.6(EGF):c.672C>T (p.Ser224=)
NM_001963.6(EGF):c.6G>A (p.Leu2=)
NM_001963.6(EGF):c.721A>G (p.Ser241Gly)
NM_001963.6(EGF):c.737+153G>T rs11098056
NM_001963.6(EGF):c.737+240A>G rs11568904
NM_001963.6(EGF):c.737+243A>G rs11568905
NM_001963.6(EGF):c.737+321T>G rs7680062
NM_001963.6(EGF):c.737+46T>G rs10470911
NM_001963.6(EGF):c.738-11T>A
NM_001963.6(EGF):c.761T>C (p.Leu254Pro)
NM_001963.6(EGF):c.772C>T (p.Arg258Cys)
NM_001963.6(EGF):c.773G>A (p.Arg258His)
NM_001963.6(EGF):c.797T>C (p.Met266Thr)
NM_001963.6(EGF):c.824A>G (p.His275Arg) rs2126012395
NM_001963.6(EGF):c.830G>T (p.Gly277Val) rs913827959
NM_001963.6(EGF):c.837C>T (p.Asp279=)
NM_001963.6(EGF):c.838A>G (p.Met280Val)
NM_001963.6(EGF):c.940+11_940+12inv
NM_001963.6(EGF):c.940+151A>T rs7661968
NM_001963.6(EGF):c.940+17C>T
NM_001963.6(EGF):c.940+77C>T rs4698800
NM_001963.6(EGF):c.940+95A>T rs7661766
NM_001963.6(EGF):c.958T>C (p.Leu320=)
NM_001963.6(EGF):c.99C>T (p.Leu33=)

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