ClinVar Miner

List of variants in gene DDX41 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 559
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.1732+46A>G rs28464438 0.99157
NM_016222.4(DDX41):c.1400-42G>A rs28544348 0.97962
NM_016222.4(DDX41):c.936-23C>G rs335439 0.97178
NM_016222.4(DDX41):c.1399+46T>C rs335436 0.97153
NM_016222.4(DDX41):c.1200C>T (p.Arg400=) rs335438 0.44246
NM_016222.4(DDX41):c.1230+80G>A rs335437 0.40224
NM_016222.4(DDX41):c.935+275T>C rs2630757 0.13156
NM_016222.4(DDX41):c.138+53G>A rs2242320 0.05881
NM_016222.4(DDX41):c.935+320C>T rs116294411 0.04296
NM_016222.4(DDX41):c.27+16G>C rs112668086 0.03248
NM_016222.4(DDX41):c.936-210G>A rs75600082 0.02998
NM_016222.4(DDX41):c.1622-20C>G rs73334184 0.01510
NM_016222.4(DDX41):c.1549+8C>T rs145507265 0.01010
NM_016222.4(DDX41):c.572-42del rs138403280 0.00992
NM_016222.4(DDX41):c.*97C>T rs337395 0.00944
NM_016222.4(DDX41):c.799-36G>A rs73804366 0.00879
NM_016222.4(DDX41):c.935+181G>A rs73804365 0.00828
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00825
NM_016222.4(DDX41):c.936-242G>A rs74498501 0.00721
NM_016222.4(DDX41):c.1683C>T (p.Pro561=) rs140652745 0.00703
NM_016222.4(DDX41):c.936-70G>A rs138960998 0.00479
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00457
NM_016222.4(DDX41):c.1550-24G>C rs116110377 0.00393
NM_016222.4(DDX41):c.1299G>A (p.Pro433=) rs61736556 0.00257
NM_016222.4(DDX41):c.1621+36T>G rs192781459 0.00159
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00140
NM_016222.4(DDX41):c.139-4T>G rs192297583 0.00127
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00106
NM_016222.4(DDX41):c.1470C>T (p.Asp490=) rs151018711 0.00096
NM_016222.4(DDX41):c.571+13T>G rs182744895 0.00078
NM_016222.4(DDX41):c.374-14G>A rs200500432 0.00064
NM_016222.4(DDX41):c.1622-5C>G rs374359854 0.00055
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_016222.4(DDX41):c.1732+19C>A rs531222773 0.00031
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) rs199697328 0.00031
NM_016222.4(DDX41):c.1479C>T (p.Ser493=) rs148853192 0.00026
NM_016222.4(DDX41):c.97T>C (p.Tyr33His) rs150205465 0.00023
NM_016222.4(DDX41):c.139-17C>T rs374555260 0.00020
NM_016222.4(DDX41):c.1644C>T (p.Leu548=) rs146668975 0.00020
NM_016222.4(DDX41):c.741G>A (p.Glu247=) rs143274979 0.00019
NM_016222.4(DDX41):c.935+11G>A rs377374855 0.00019
NM_016222.4(DDX41):c.1098+11C>T rs375796202 0.00018
NM_016222.4(DDX41):c.1399+10G>A rs200374307 0.00018
NM_016222.4(DDX41):c.591G>A (p.Lys197=) rs149122003 0.00018
NM_016222.4(DDX41):c.291G>A (p.Lys97=) rs141619153 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016222.4(DDX41):c.748T>G (p.Leu250Val) rs200707924 0.00013
NM_016222.4(DDX41):c.1242T>C (p.Tyr414=) rs201039108 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_016222.4(DDX41):c.51T>G (p.Pro17=) rs563411513 0.00012
NM_016222.4(DDX41):c.804G>A (p.Glu268=) rs535988198 0.00012
NM_016222.4(DDX41):c.1436G>A (p.Arg479Gln) rs200307685 0.00010
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_016222.4(DDX41):c.690C>G (p.Gly230=) rs144003034 0.00009
NM_016222.4(DDX41):c.907G>A (p.Val303Met) rs141982967 0.00009
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_016222.4(DDX41):c.1347C>T (p.His449=) rs138792438 0.00006
NM_016222.4(DDX41):c.1399+18A>T rs373651337 0.00006
NM_016222.4(DDX41):c.1549+15C>T rs767997296 0.00006
NM_016222.4(DDX41):c.1827C>T (p.Ile609=) rs771561040 0.00006
NM_016222.4(DDX41):c.298+8G>A rs769834737 0.00006
NM_016222.4(DDX41):c.597A>G (p.Lys199=) rs145085939 0.00006
NM_016222.4(DDX41):c.88G>T (p.Asp30Tyr) rs559527781 0.00006
NM_016222.4(DDX41):c.963G>A (p.Pro321=) rs200664784 0.00006
NM_016222.4(DDX41):c.1203T>G (p.Ala401=) rs556840837 0.00005
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter) rs377745714 0.00005
NM_016222.4(DDX41):c.1732+13C>T rs370389758 0.00005
NM_016222.4(DDX41):c.1740C>T (p.Arg580=) rs148650463 0.00005
NM_016222.4(DDX41):c.507C>T (p.Ile169=) rs747529460 0.00005
NM_016222.4(DDX41):c.522C>T (p.Asp174=) rs924815407 0.00005
NM_016222.4(DDX41):c.59G>A (p.Gly20Glu) rs192558384 0.00005
NM_016222.4(DDX41):c.75G>A (p.Ala25=) rs755411383 0.00005
NM_016222.4(DDX41):c.777T>C (p.Tyr259=) rs139845884 0.00005
NM_016222.4(DDX41):c.1308C>T (p.Leu436=) rs767835537 0.00004
NM_016222.4(DDX41):c.1622-3C>T rs200471726 0.00004
NM_016222.4(DDX41):c.1733-3C>T rs750355279 0.00004
NM_016222.4(DDX41):c.1794C>T (p.Leu598=) rs554721122 0.00004
NM_016222.4(DDX41):c.1850A>G (p.His617Arg) rs771535420 0.00004
NM_016222.4(DDX41):c.32C>T (p.Ala11Val) rs144762739 0.00004
NM_016222.4(DDX41):c.538A>G (p.Ile180Val) rs376128262 0.00004
NM_016222.4(DDX41):c.560A>G (p.Lys187Arg) rs185950985 0.00004
NM_016222.4(DDX41):c.572-3T>C rs760334582 0.00004
NM_016222.4(DDX41):c.643A>C (p.Ile215Leu) rs573545872 0.00004
NM_016222.4(DDX41):c.799-12C>T rs749282766 0.00004
NM_016222.4(DDX41):c.882C>T (p.Cys294=) rs550154951 0.00004
NM_016222.4(DDX41):c.883G>A (p.Ala295Thr) rs748680511 0.00004
NM_016222.4(DDX41):c.935+9T>G rs534811902 0.00004
NM_016222.4(DDX41):c.107A>G (p.Tyr36Cys) rs768787901 0.00003
NM_016222.4(DDX41):c.1275C>T (p.Leu425=) rs752783659 0.00003
NM_016222.4(DDX41):c.1303-17T>G rs778287528 0.00003
NM_016222.4(DDX41):c.1303-7C>T rs777664440 0.00003
NM_016222.4(DDX41):c.1528C>T (p.Pro510Ser) rs199756165 0.00003
NM_016222.4(DDX41):c.1547A>G (p.Tyr516Cys) rs1014402897 0.00003
NM_016222.4(DDX41):c.1563C>T (p.Gly521=) rs748983205 0.00003
NM_016222.4(DDX41):c.1569C>T (p.Thr523=) rs371427065 0.00003
NM_016222.4(DDX41):c.1621+3G>A rs368999712 0.00003
NM_016222.4(DDX41):c.1755C>T (p.Cys585=) rs753613824 0.00003
NM_016222.4(DDX41):c.208C>T (p.Pro70Ser) rs756008087 0.00003
NM_016222.4(DDX41):c.373+18A>C rs768614170 0.00003
NM_016222.4(DDX41):c.401A>G (p.Lys134Arg) rs774582005 0.00003
NM_016222.4(DDX41):c.43G>C (p.Glu15Gln) rs1182905371 0.00003
NM_016222.4(DDX41):c.486C>T (p.Arg162=) rs762590009 0.00003
NM_016222.4(DDX41):c.487G>A (p.Val163Met) rs773515517 0.00003
NM_016222.4(DDX41):c.571+3A>G rs776159825 0.00003
NM_016222.4(DDX41):c.572-16C>T rs113217634 0.00003
NM_016222.4(DDX41):c.656G>A (p.Arg219His) rs754196793 0.00003
NM_016222.4(DDX41):c.799C>T (p.Arg267Trp) rs748590587 0.00003
NM_016222.4(DDX41):c.845G>A (p.Arg282His) rs756029240 0.00003
NM_016222.4(DDX41):c.1026C>G (p.Ala342=) rs556677138 0.00002
NM_016222.4(DDX41):c.1062C>T (p.Phe354=) rs199581668 0.00002
NM_016222.4(DDX41):c.1099-20G>A rs763708504 0.00002
NM_016222.4(DDX41):c.1105C>T (p.Arg369Ter) rs747672157 0.00002
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr) rs747072227 0.00002
NM_016222.4(DDX41):c.1231-20C>T rs765992595 0.00002
NM_016222.4(DDX41):c.1234G>A (p.Val412Ile) rs367653265 0.00002
NM_016222.4(DDX41):c.1302+8C>T rs371477062 0.00002
NM_016222.4(DDX41):c.1338C>T (p.Asp446=) rs536241208 0.00002
NM_016222.4(DDX41):c.138+13C>T rs762846343 0.00002
NM_016222.4(DDX41):c.1395C>T (p.Gly465=) rs766760626 0.00002
NM_016222.4(DDX41):c.1471G>A (p.Val491Ile) rs757449267 0.00002
NM_016222.4(DDX41):c.1509C>T (p.His503=) rs756656167 0.00002
NM_016222.4(DDX41):c.1665C>T (p.Ala555=) rs1356103698 0.00002
NM_016222.4(DDX41):c.1680G>A (p.Pro560=) rs776128416 0.00002
NM_016222.4(DDX41):c.1732+6T>G rs1458442961 0.00002
NM_016222.4(DDX41):c.1733-17del rs1171013161 0.00002
NM_016222.4(DDX41):c.1854C>T (p.Ser618=) rs1391161237 0.00002
NM_016222.4(DDX41):c.219T>G (p.Asp73Glu) rs781615975 0.00002
NM_016222.4(DDX41):c.298+20C>T rs750478188 0.00002
NM_016222.4(DDX41):c.345G>A (p.Lys115=) rs1761221426 0.00002
NM_016222.4(DDX41):c.367G>A (p.Gly123Ser) rs764853110 0.00002
NM_016222.4(DDX41):c.374-12C>T rs760644231 0.00002
NM_016222.4(DDX41):c.449G>A (p.Arg150His) rs763624515 0.00002
NM_016222.4(DDX41):c.451T>C (p.Tyr151His) rs747442017 0.00002
NM_016222.4(DDX41):c.551A>G (p.Lys184Arg) rs765561953 0.00002
NM_016222.4(DDX41):c.644T>C (p.Ile215Thr) rs369566052 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.708G>A (p.Thr236=) rs920310571 0.00002
NM_016222.4(DDX41):c.764G>A (p.Arg255His) rs775735135 0.00002
NM_016222.4(DDX41):c.766G>A (p.Glu256Lys) rs746011550 0.00002
NM_016222.4(DDX41):c.773C>T (p.Pro258Leu) rs1289634533 0.00002
NM_016222.4(DDX41):c.844C>T (p.Arg282Cys) rs764156386 0.00002
NM_016222.4(DDX41):c.893T>C (p.Ile298Thr) rs778667883 0.00002
NM_016222.4(DDX41):c.937G>A (p.Gly313Ser) rs780667117 0.00002
NM_016222.4(DDX41):c.945C>T (p.His315=) rs141520272 0.00002
NM_016222.4(DDX41):c.1015C>T (p.Arg339Cys) rs759862062 0.00001
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr) rs1761092414 0.00001
NM_016222.4(DDX41):c.1046T>A (p.Met349Lys) rs775327364 0.00001
NM_016222.4(DDX41):c.104C>T (p.Pro35Leu) rs984823447 0.00001
NM_016222.4(DDX41):c.1050C>T (p.Ile350=) rs772038708 0.00001
NM_016222.4(DDX41):c.1059C>T (p.Gly353=) rs1761090655 0.00001
NM_016222.4(DDX41):c.1063G>A (p.Glu355Lys) rs778864620 0.00001
NM_016222.4(DDX41):c.1098+12G>A rs375840095 0.00001
NM_016222.4(DDX41):c.1098+16G>A rs763267317 0.00001
NM_016222.4(DDX41):c.1098+20A>G rs1292742827 0.00001
NM_016222.4(DDX41):c.1098+5C>T rs1000656772 0.00001
NM_016222.4(DDX41):c.1098+6G>A rs767976806 0.00001
NM_016222.4(DDX41):c.1110G>A (p.Gln370=) rs773047033 0.00001
NM_016222.4(DDX41):c.1119C>T (p.Leu373=) rs748411098 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.1225A>G (p.Ile409Val) rs752416266 0.00001
NM_016222.4(DDX41):c.1231-5G>A rs761710936 0.00001
NM_016222.4(DDX41):c.1254G>A (p.Glu418=) rs771336946 0.00001
NM_016222.4(DDX41):c.1266G>A (p.Val422=) rs1352021642 0.00001
NM_016222.4(DDX41):c.1276G>A (p.Glu426Lys) rs376656648 0.00001
NM_016222.4(DDX41):c.1296C>G (p.Pro432=) rs201997819 0.00001
NM_016222.4(DDX41):c.1301C>T (p.Pro434Leu) rs765273800 0.00001
NM_016222.4(DDX41):c.1303-6G>A rs764631159 0.00001
NM_016222.4(DDX41):c.1309A>G (p.Ile437Val) rs1761039131 0.00001
NM_016222.4(DDX41):c.1332C>T (p.Asp444=) rs554494724 0.00001
NM_016222.4(DDX41):c.135A>C (p.Leu45=) rs752405938 0.00001
NM_016222.4(DDX41):c.1368G>C (p.Gly456=) rs140816118 0.00001
NM_016222.4(DDX41):c.1377C>T (p.Ala459=) rs748765304 0.00001
NM_016222.4(DDX41):c.139-12G>C rs1031417596 0.00001
NM_016222.4(DDX41):c.139C>T (p.Leu47Phe) rs1316833419 0.00001
NM_016222.4(DDX41):c.1435C>T (p.Arg479Trp) rs768638631 0.00001
NM_016222.4(DDX41):c.1458A>G (p.Leu486=) rs1481876340 0.00001
NM_016222.4(DDX41):c.1538T>C (p.Ile513Thr) rs772902682 0.00001
NM_016222.4(DDX41):c.155dup (p.Arg53fs) rs766117035 0.00001
NM_016222.4(DDX41):c.1577C>T (p.Ser526Leu) rs774299454 0.00001
NM_016222.4(DDX41):c.1599T>G (p.Thr533=) rs748197124 0.00001
NM_016222.4(DDX41):c.164G>T (p.Arg55Leu) rs1479333618 0.00001
NM_016222.4(DDX41):c.1650G>A (p.Ala550=) rs747056004 0.00001
NM_016222.4(DDX41):c.1684G>A (p.Val562Met) rs746326361 0.00001
NM_016222.4(DDX41):c.1704C>T (p.Cys568=) rs551266040 0.00001
NM_016222.4(DDX41):c.1732+14G>A rs1181517880 0.00001
NM_016222.4(DDX41):c.1733-18_1733-17del rs751885147 0.00001
NM_016222.4(DDX41):c.1739G>A (p.Arg580His) rs778787490 0.00001
NM_016222.4(DDX41):c.1828G>A (p.Gly610Ser) rs763471166 0.00001
NM_016222.4(DDX41):c.1836G>A (p.Lys612=) rs2532071934 0.00001
NM_016222.4(DDX41):c.248C>T (p.Ser83Phe) rs771776006 0.00001
NM_016222.4(DDX41):c.258C>T (p.Ser86=) rs1256014951 0.00001
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter) rs199675507 0.00001
NM_016222.4(DDX41):c.27+11G>A rs935249664 0.00001
NM_016222.4(DDX41):c.27+13C>T rs763712095 0.00001
NM_016222.4(DDX41):c.27+17A>C rs772000036 0.00001
NM_016222.4(DDX41):c.28-5T>C rs2532091973 0.00001
NM_016222.4(DDX41):c.299-16C>T rs200439688 0.00001
NM_016222.4(DDX41):c.299-3C>T rs758614565 0.00001
NM_016222.4(DDX41):c.301C>T (p.Arg101Cys) rs1761223083 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.373+15A>G rs2532088948 0.00001
NM_016222.4(DDX41):c.373+19T>C rs746817865 0.00001
NM_016222.4(DDX41):c.373+4T>C rs1410875577 0.00001
NM_016222.4(DDX41):c.374-16A>G rs761457080 0.00001
NM_016222.4(DDX41):c.374-17C>T rs1032022052 0.00001
NM_016222.4(DDX41):c.384A>G (p.Ser128=) rs200841282 0.00001
NM_016222.4(DDX41):c.409dup (p.Thr137fs) rs2532088551 0.00001
NM_016222.4(DDX41):c.434+3A>G rs1243762429 0.00001
NM_016222.4(DDX41):c.456T>A (p.Val152=) rs955969841 0.00001
NM_016222.4(DDX41):c.459G>C (p.Leu153=) rs1223390612 0.00001
NM_016222.4(DDX41):c.475C>T (p.Arg159Ter) rs754907965 0.00001
NM_016222.4(DDX41):c.479A>G (p.His160Arg) rs879654141 0.00001
NM_016222.4(DDX41):c.484C>T (p.Arg162Cys) rs766175686 0.00001
NM_016222.4(DDX41):c.491G>A (p.Arg164Gln) rs761993024 0.00001
NM_016222.4(DDX41):c.50C>G (p.Pro17Arg) rs1761259465 0.00001
NM_016222.4(DDX41):c.511G>C (p.Val171Leu) rs200005940 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.523G>A (p.Gly175Ser) rs377695856 0.00001
NM_016222.4(DDX41):c.565C>T (p.Pro189Ser) rs1450576850 0.00001
NM_016222.4(DDX41):c.566C>T (p.Pro189Leu) rs776934246 0.00001
NM_016222.4(DDX41):c.572-4A>G rs768353496 0.00001
NM_016222.4(DDX41):c.577C>G (p.Leu193Val) rs1004241531 0.00001
NM_016222.4(DDX41):c.608A>G (p.His203Arg) rs905341773 0.00001
NM_016222.4(DDX41):c.616C>G (p.Pro206Ala) rs373575560 0.00001
NM_016222.4(DDX41):c.647T>C (p.Leu216Pro) rs1761162090 0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) rs376867329 0.00001
NM_016222.4(DDX41):c.655C>T (p.Arg219Cys) rs1162015461 0.00001
NM_016222.4(DDX41):c.707C>T (p.Thr236Met) rs747256985 0.00001
NM_016222.4(DDX41):c.715G>A (p.Val239Ile) rs1352012150 0.00001
NM_016222.4(DDX41):c.718A>G (p.Ile240Val) rs139112542 0.00001
NM_016222.4(DDX41):c.740A>G (p.Glu247Gly) rs146175373 0.00001
NM_016222.4(DDX41):c.763C>T (p.Arg255Cys) rs760338178 0.00001
NM_016222.4(DDX41):c.765C>T (p.Arg255=) rs772246357 0.00001
NM_016222.4(DDX41):c.774C>T (p.Pro258=) rs770860996 0.00001
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys) rs139780256 0.00001
NM_016222.4(DDX41):c.783C>T (p.Leu261=) rs756526975 0.00001
NM_016222.4(DDX41):c.789C>T (p.Ile263=) rs1383347413 0.00001
NM_016222.4(DDX41):c.799-9dup rs949946325 0.00001
NM_016222.4(DDX41):c.7G>A (p.Glu3Lys) rs779986873 0.00001
NM_016222.4(DDX41):c.801G>T (p.Arg267=) rs150888965 0.00001
NM_016222.4(DDX41):c.809C>T (p.Ala270Val) rs745544108 0.00001
NM_016222.4(DDX41):c.859G>A (p.Asp287Asn) rs1761144395 0.00001
NM_016222.4(DDX41):c.877C>T (p.Arg293Cys) rs763133277 0.00001
NM_016222.4(DDX41):c.878G>A (p.Arg293His) rs773162771 0.00001
NM_016222.4(DDX41):c.901A>G (p.Met301Val) rs1761140994 0.00001
NM_016222.4(DDX41):c.902T>C (p.Met301Thr) rs1408427651 0.00001
NM_016222.4(DDX41):c.91G>A (p.Glu31Lys) rs1064794842 0.00001
NM_016222.4(DDX41):c.920T>G (p.Met307Arg) rs996454252 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016222.4(DDX41):c.940G>A (p.Val314Ile) rs1761097601 0.00001
NM_016222.4(DDX41):c.946_947del (p.Met316fs) rs1411544367 0.00001
NM_016222.4(DDX41):c.952G>T (p.Val318Leu) rs758175653 0.00001
NM_016222.4(DDX41):c.966G>T (p.Gly322=) rs542411494 0.00001
NM_016222.4(DDX41):c.968G>A (p.Arg323His) rs1248764875 0.00001
NM_016222.4(DDX41):c.96C>T (p.Asp32=) rs1490734656 0.00001
NM_016222.4(DDX41):c.1004dup (p.Asp336fs) rs1581805747
NM_016222.4(DDX41):c.1010T>A (p.Ile337Asn)
NM_016222.4(DDX41):c.1014_1023del (p.Cys338fs) rs1761093088
NM_016222.4(DDX41):c.1018T>A (p.Tyr340Asn) rs2532080974
NM_016222.4(DDX41):c.1018T>C (p.Tyr340His) rs2532080974
NM_016222.4(DDX41):c.103C>G (p.Pro35Ala) rs2127438057
NM_016222.4(DDX41):c.104C>G (p.Pro35Arg) rs984823447
NM_016222.4(DDX41):c.1054A>G (p.Met352Val)
NM_016222.4(DDX41):c.1054A>T (p.Met352Leu)
NM_016222.4(DDX41):c.1060T>C (p.Phe354Leu) rs2532080846
NM_016222.4(DDX41):c.1068T>A (p.Gly356=)
NM_016222.4(DDX41):c.1075C>T (p.Arg359Cys) rs2127436549
NM_016222.4(DDX41):c.1076G>A (p.Arg359His)
NM_016222.4(DDX41):c.1077T>C (p.Arg359=)
NM_016222.4(DDX41):c.1088_1090del (p.Ser363del) rs1234975047
NM_016222.4(DDX41):c.1098+11del rs764683746
NM_016222.4(DDX41):c.1098+12G>C rs375840095
NM_016222.4(DDX41):c.1098+15C>T
NM_016222.4(DDX41):c.1098+2T>G rs1761088462
NM_016222.4(DDX41):c.1099-11del rs756575999
NM_016222.4(DDX41):c.1099-11dup
NM_016222.4(DDX41):c.1099-12C>G rs200279634
NM_016222.4(DDX41):c.1099-16C>G rs201899140
NM_016222.4(DDX41):c.1099-1G>A rs2532080007
NM_016222.4(DDX41):c.1099-9C>T
NM_016222.4(DDX41):c.10T>G (p.Ser4Ala)
NM_016222.4(DDX41):c.1105C>G (p.Arg369Gly) rs747672157
NM_016222.4(DDX41):c.1106G>A (p.Arg369Gln) rs1761077648
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter) rs2127436444
NM_016222.4(DDX41):c.1130C>T (p.Thr377Ile)
NM_016222.4(DDX41):c.113C>G (p.Pro38Arg) rs11555633
NM_016222.4(DDX41):c.113C>T (p.Pro38Leu) rs11555633
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016222.4(DDX41):c.1154T>G (p.Phe385Cys)
NM_016222.4(DDX41):c.1154_1155del (p.Phe385fs) rs2532079821
NM_016222.4(DDX41):c.1167C>A (p.Ala389=) rs768748580
NM_016222.4(DDX41):c.1167C>T (p.Ala389=) rs768748580
NM_016222.4(DDX41):c.11C>T (p.Ser4Leu)
NM_016222.4(DDX41):c.1205G>A (p.Gly402Glu)
NM_016222.4(DDX41):c.1215C>T (p.Ser405=)
NM_016222.4(DDX41):c.1222G>A (p.Val408Ile)
NM_016222.4(DDX41):c.1224C>T (p.Val408=) rs757521888
NM_016222.4(DDX41):c.1230+15C>T rs2532078458
NM_016222.4(DDX41):c.1230+1G>T
NM_016222.4(DDX41):c.1230G>A (p.Gln410=) rs1290351850
NM_016222.4(DDX41):c.1231-10G>A
NM_016222.4(DDX41):c.1231-14del rs2532077812
NM_016222.4(DDX41):c.1231-18T>C rs2532077839
NM_016222.4(DDX41):c.1237G>A (p.Glu413Lys) rs2532077737
NM_016222.4(DDX41):c.1238A>C (p.Glu413Ala) rs772162239
NM_016222.4(DDX41):c.124C>T (p.Arg42Cys) rs1414400375
NM_016222.4(DDX41):c.1265T>C (p.Val422Ala)
NM_016222.4(DDX41):c.126C>G (p.Arg42=)
NM_016222.4(DDX41):c.1272G>A (p.Leu424=)
NM_016222.4(DDX41):c.1273C>T (p.Leu425Phe) rs2532077626
NM_016222.4(DDX41):c.1273_1276dup (p.Glu426fs) rs1554110980
NM_016222.4(DDX41):c.1283T>C (p.Leu428Pro) rs1761050435
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter) rs2127436241
NM_016222.4(DDX41):c.1298C>T (p.Pro433Leu) rs1761049660
NM_016222.4(DDX41):c.1302+6_1302+40del rs1251759414
NM_016222.4(DDX41):c.1302+7G>A
NM_016222.4(DDX41):c.1303-3C>T rs2532076907
NM_016222.4(DDX41):c.1303-9T>C
NM_016222.4(DDX41):c.1319A>G (p.Glu440Gly)
NM_016222.4(DDX41):c.1320G>A (p.Glu440=)
NM_016222.4(DDX41):c.1326G>A (p.Lys442=)
NM_016222.4(DDX41):c.1334_1336del (p.Val445del) rs2127436133
NM_016222.4(DDX41):c.1354del (p.Leu452fs) rs2532076691
NM_016222.4(DDX41):c.135A>G (p.Leu45=)
NM_016222.4(DDX41):c.1362C>T (p.Leu454=)
NM_016222.4(DDX41):c.138+18G>A
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.138+5G>T rs187714514
NM_016222.4(DDX41):c.138+9C>T
NM_016222.4(DDX41):c.139-16C>T rs774275218
NM_016222.4(DDX41):c.139-5C>G
NM_016222.4(DDX41):c.139-5C>T rs200837781
NM_016222.4(DDX41):c.1394del (p.Gly465fs) rs759501764
NM_016222.4(DDX41):c.1399+15A>C
NM_016222.4(DDX41):c.1399+17C>T rs1468654127
NM_016222.4(DDX41):c.1400-16G>A rs1167876899
NM_016222.4(DDX41):c.1400-19_1400-16del rs770814727
NM_016222.4(DDX41):c.1400-1G>A
NM_016222.4(DDX41):c.1401C>G (p.Asp467Glu)
NM_016222.4(DDX41):c.1407G>A (p.Glu469=)
NM_016222.4(DDX41):c.1410A>G (p.Glu470=)
NM_016222.4(DDX41):c.1411C>T (p.Arg471Trp) rs1329727523
NM_016222.4(DDX41):c.1415C>T (p.Thr472Ile) rs2532075895
NM_016222.4(DDX41):c.1431del (p.Phe478fs) rs2532075844
NM_016222.4(DDX41):c.1441G>A (p.Gly481Ser) rs780011110
NM_016222.4(DDX41):c.1442G>C (p.Gly481Ala)
NM_016222.4(DDX41):c.1465A>G (p.Thr489Ala) rs2532075721
NM_016222.4(DDX41):c.146A>G (p.Lys49Arg) rs2532090494
NM_016222.4(DDX41):c.1474dup (p.Ala492fs) rs1188549864
NM_016222.4(DDX41):c.1496del (p.Pro499fs) rs753425379
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.1532A>G (p.Glu511Gly) rs2532075577
NM_016222.4(DDX41):c.1549+19A>G rs2532075469
NM_016222.4(DDX41):c.1549+4A>G
NM_016222.4(DDX41):c.1549+9C>G rs2532075488
NM_016222.4(DDX41):c.1550-11_1550-9del rs771715617
NM_016222.4(DDX41):c.1550-4G>C rs2532075057
NM_016222.4(DDX41):c.1565G>A (p.Arg522His) rs2532075001
NM_016222.4(DDX41):c.1570G>A (p.Gly524Arg) rs1761006621
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) rs869312828
NM_016222.4(DDX41):c.1585A>G (p.Thr529Ala) rs1581802660
NM_016222.4(DDX41):c.1585dup (p.Thr529fs)
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs) rs866179648
NM_016222.4(DDX41):c.1589G>A (p.Gly530Asp) rs2532074874
NM_016222.4(DDX41):c.1602C>T (p.Thr534=) rs781715363
NM_016222.4(DDX41):c.1611C>T (p.Asn537=) rs2532074746
NM_016222.4(DDX41):c.1617G>A (p.Ala539=)
NM_016222.4(DDX41):c.1621+17C>T
NM_016222.4(DDX41):c.1621+18G>A rs575209364
NM_016222.4(DDX41):c.1621+6T>C rs780474603
NM_016222.4(DDX41):c.1621+9G>A rs561035914
NM_016222.4(DDX41):c.1628C>G (p.Ser543Ter)
NM_016222.4(DDX41):c.163C>T (p.Arg55Cys) rs1175013945
NM_016222.4(DDX41):c.1649C>T (p.Ala550Val)
NM_016222.4(DDX41):c.164G>A (p.Arg55His) rs1479333618
NM_016222.4(DDX41):c.1668G>T (p.Lys556Asn) rs969403252
NM_016222.4(DDX41):c.1674G>C (p.Lys558Asn)
NM_016222.4(DDX41):c.1679C>T (p.Pro560Leu) rs2532073754
NM_016222.4(DDX41):c.1682C>T (p.Pro561Leu)
NM_016222.4(DDX41):c.1687C>T (p.Leu563=)
NM_016222.4(DDX41):c.1693G>T (p.Val565Leu) rs781182074
NM_016222.4(DDX41):c.16C>A (p.Pro6Thr) rs2532092429
NM_016222.4(DDX41):c.1706G>A (p.Gly569Glu)
NM_016222.4(DDX41):c.1716C>A (p.Ser572=)
NM_016222.4(DDX41):c.1721del (p.Leu574fs) rs2127435669
NM_016222.4(DDX41):c.1726A>G (p.Ile576Val)
NM_016222.4(DDX41):c.1732+8C>T
NM_016222.4(DDX41):c.1733-12C>G
NM_016222.4(DDX41):c.1733-20C>T rs1760967435
NM_016222.4(DDX41):c.1733-3C>A
NM_016222.4(DDX41):c.1789A>G (p.Lys597Glu) rs1167946851
NM_016222.4(DDX41):c.178del (p.Glu60fs)
NM_016222.4(DDX41):c.1811_1812insCATATGTTGCTAT (p.Lys604fs)
NM_016222.4(DDX41):c.1843C>T (p.Leu615=)
NM_016222.4(DDX41):c.1867T>A (p.Ter623Arg)
NM_016222.4(DDX41):c.1868G>A (p.Ter623=) rs1760956325
NM_016222.4(DDX41):c.189G>C (p.Gln63His) rs749201065
NM_016222.4(DDX41):c.199G>C (p.Gly67Arg) rs970338234
NM_016222.4(DDX41):c.199G>T (p.Gly67Cys) rs970338234
NM_016222.4(DDX41):c.19G>A (p.Glu7Lys) rs749405703
NM_016222.4(DDX41):c.19G>C (p.Glu7Gln) rs749405703
NM_016222.4(DDX41):c.1A>C (p.Met1Leu) rs1399057229
NM_016222.4(DDX41):c.214G>C (p.Gly72Arg)
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs) rs1554111683
NM_016222.4(DDX41):c.23G>T (p.Arg8Leu) rs1761268384
NM_016222.4(DDX41):c.246G>A (p.Gln82=)
NM_016222.4(DDX41):c.24G>T (p.Arg8=) rs756668931
NM_016222.4(DDX41):c.261C>G (p.Leu87=) rs770356105
NM_016222.4(DDX41):c.265G>A (p.Asp89Asn) rs2532089979
NM_016222.4(DDX41):c.27+17A>G
NM_016222.4(DDX41):c.27+19C>G
NM_016222.4(DDX41):c.27+19C>T rs371982148
NM_016222.4(DDX41):c.27+1G>A rs2532092356
NM_016222.4(DDX41):c.27+2_27+5dup rs142465759
NM_016222.4(DDX41):c.27+3A>C rs2532092347
NM_016222.4(DDX41):c.27+4_27+5del
NM_016222.4(DDX41):c.27+7G>T rs550711404
NM_016222.4(DDX41):c.27+9G>A rs765022870
NM_016222.4(DDX41):c.27+9G>C rs765022870
NM_016222.4(DDX41):c.28-14G>C rs1438043459
NM_016222.4(DDX41):c.292G>A (p.Ala98Thr) rs2532089923
NM_016222.4(DDX41):c.298+13_298+14delinsAT rs2532089872
NM_016222.4(DDX41):c.298+14C>T
NM_016222.4(DDX41):c.298+19C>G rs780282216
NM_016222.4(DDX41):c.299-10_299-8del rs763699670
NM_016222.4(DDX41):c.299-15C>G rs1161684567
NM_016222.4(DDX41):c.302G>A (p.Arg101His) rs1761222979
NM_016222.4(DDX41):c.305_306del (p.Lys102fs) rs760059747
NM_016222.4(DDX41):c.317A>G (p.Lys106Arg)
NM_016222.4(DDX41):c.333G>A (p.Lys111=)
NM_016222.4(DDX41):c.337G>A (p.Glu113Lys) rs2532089170
NM_016222.4(DDX41):c.351G>T (p.Leu117=)
NM_016222.4(DDX41):c.373+1G>A rs2532088991
NM_016222.4(DDX41):c.373+5G>T
NM_016222.4(DDX41):c.374-15T>C rs753356569
NM_016222.4(DDX41):c.374-8C>G rs775230894
NM_016222.4(DDX41):c.386dup (p.Lys130fs)
NM_016222.4(DDX41):c.405C>T (p.Gly135=) rs2532088562
NM_016222.4(DDX41):c.410C>T (p.Thr137Met) rs1407903590
NM_016222.4(DDX41):c.416A>G (p.Asp139Gly)
NM_016222.4(DDX41):c.420C>G (p.Asp140Glu) rs1461623455
NM_016222.4(DDX41):c.421C>T (p.Pro141Ser) rs1761207822
NM_016222.4(DDX41):c.429A>T (p.Lys143Asn)
NM_016222.4(DDX41):c.434+12C>G rs751949523
NM_016222.4(DDX41):c.434+12C>T rs751949523
NM_016222.4(DDX41):c.434+13A>G rs1761206612
NM_016222.4(DDX41):c.434+14G>C rs371795310
NM_016222.4(DDX41):c.434+1G>A rs1170971274
NM_016222.4(DDX41):c.434+1G>C rs1170971274
NM_016222.4(DDX41):c.435-18C>A rs2532088119
NM_016222.4(DDX41):c.435-19C>T rs2532088122
NM_016222.4(DDX41):c.435-2_435-1delinsCA rs869320762
NM_016222.4(DDX41):c.435-8A>C rs375056519
NM_016222.4(DDX41):c.435-9C>T rs1283553790
NM_016222.4(DDX41):c.438G>A (p.Trp146Ter) rs915284509
NM_016222.4(DDX41):c.43G>A (p.Glu15Lys) rs1182905371
NM_016222.4(DDX41):c.449G>T (p.Arg150Leu) rs763624515
NM_016222.4(DDX41):c.457C>A (p.Leu153Met) rs1761200849
NM_016222.4(DDX41):c.464T>C (p.Met155Thr) rs755669218
NM_016222.4(DDX41):c.49C>T (p.Pro17Ser) rs1761259570
NM_016222.4(DDX41):c.504C>T (p.His168=) rs1201837561
NM_016222.4(DDX41):c.518G>A (p.Gly173Glu) rs2532087463
NM_016222.4(DDX41):c.520G>A (p.Asp174Asn)
NM_016222.4(DDX41):c.524G>A (p.Gly175Asp) rs1233284218
NM_016222.4(DDX41):c.546C>T (p.Ser182=) rs766263690
NM_016222.4(DDX41):c.551A>C (p.Lys184Thr)
NM_016222.4(DDX41):c.562T>A (p.Phe188Ile) rs1490572026
NM_016222.4(DDX41):c.562T>C (p.Phe188Leu) rs1490572026
NM_016222.4(DDX41):c.568G>A (p.Ala190Thr)
NM_016222.4(DDX41):c.56G>A (p.Gly19Glu)
NM_016222.4(DDX41):c.571+14G>A rs1028594054
NM_016222.4(DDX41):c.571+1G>A
NM_016222.4(DDX41):c.571+7_571+8del
NM_016222.4(DDX41):c.571G>A (p.Ala191Thr) rs2127437490
NM_016222.4(DDX41):c.572-130CT[8] rs372373486
NM_016222.4(DDX41):c.572-14G>A rs1261529805
NM_016222.4(DDX41):c.572-15G>A rs1323014701
NM_016222.4(DDX41):c.572-1G>A rs1554111533
NM_016222.4(DDX41):c.578T>C (p.Leu193Pro) rs2532085869
NM_016222.4(DDX41):c.583G>A (p.Gly195Ser) rs771510721
NM_016222.4(DDX41):c.584G>T (p.Gly195Val) rs745329544
NM_016222.4(DDX41):c.588G>C (p.Leu196=) rs2532085822
NM_016222.4(DDX41):c.599G>A (p.Gly200Asp)
NM_016222.4(DDX41):c.617C>T (p.Pro206Leu) rs1480532080
NM_016222.4(DDX41):c.626del (p.Ile209fs)
NM_016222.4(DDX41):c.633C>T (p.Gly211=) rs541153895
NM_016222.4(DDX41):c.640A>G (p.Thr214Ala)
NM_016222.4(DDX41):c.644+10G>T rs762124039
NM_016222.4(DDX41):c.644+8_644+9del
NM_016222.4(DDX41):c.645-15A>T rs1229250099
NM_016222.4(DDX41):c.645-20G>A rs781318967
NM_016222.4(DDX41):c.645-20G>C rs781318967
NM_016222.4(DDX41):c.645-8C>T rs2532085091
NM_016222.4(DDX41):c.648A>G (p.Leu216=)
NM_016222.4(DDX41):c.648A>T (p.Leu216=)
NM_016222.4(DDX41):c.64del (p.Arg22fs)
NM_016222.4(DDX41):c.65G>A (p.Arg22His) rs1330322681
NM_016222.4(DDX41):c.672C>T (p.Ile224=)
NM_016222.4(DDX41):c.681G>T (p.Thr227=) rs765996540
NM_016222.4(DDX41):c.683G>T (p.Gly228Val)
NM_016222.4(DDX41):c.68C>T (p.Ser23Phe) rs755765308
NM_016222.4(DDX41):c.694A>G (p.Thr232Ala) rs2532084900
NM_016222.4(DDX41):c.696A>C (p.Thr232=)
NM_016222.4(DDX41):c.714C>G (p.Pro238=)
NM_016222.4(DDX41):c.723G>T (p.Met241Ile) rs1761157247
NM_016222.4(DDX41):c.726C>G (p.Phe242Leu) rs2532084641
NM_016222.4(DDX41):c.728G>A (p.Cys243Tyr)
NM_016222.4(DDX41):c.746G>A (p.Arg249Lys)
NM_016222.4(DDX41):c.747G>A (p.Arg249=)
NM_016222.4(DDX41):c.751C>T (p.Pro251Ser) rs747842313
NM_016222.4(DDX41):c.752C>T (p.Pro251Leu) rs1479512527
NM_016222.4(DDX41):c.753C>A (p.Pro251=) rs778514273
NM_016222.4(DDX41):c.753C>T (p.Pro251=) rs778514273
NM_016222.4(DDX41):c.758C>G (p.Ser253Ter)
NM_016222.4(DDX41):c.759A>G (p.Ser253=)
NM_016222.4(DDX41):c.761A>G (p.Lys254Arg)
NM_016222.4(DDX41):c.769G>C (p.Gly257Arg) rs2532084369
NM_016222.4(DDX41):c.782T>A (p.Leu261His)
NM_016222.4(DDX41):c.786C>T (p.Ile262=)
NM_016222.4(DDX41):c.792C>T (p.Cys264=)
NM_016222.4(DDX41):c.798+5G>T
NM_016222.4(DDX41):c.800G>A (p.Arg267Gln) rs1000039111
NM_016222.4(DDX41):c.804del (p.Glu268fs)
NM_016222.4(DDX41):c.808G>A (p.Ala270Thr) rs2532083895
NM_016222.4(DDX41):c.811C>T (p.Arg271Trp) rs778379292
NM_016222.4(DDX41):c.814C>T (p.Gln272Ter) rs2532083882
NM_016222.4(DDX41):c.826A>G (p.Ile276Val)
NM_016222.4(DDX41):c.82G>A (p.Glu28Lys) rs1433636328
NM_016222.4(DDX41):c.844C>G (p.Arg282Gly) rs764156386
NM_016222.4(DDX41):c.847del (p.Leu283fs) rs1761145210
NM_016222.4(DDX41):c.873C>T (p.Leu291=)
NM_016222.4(DDX41):c.876G>A (p.Leu292=) rs367663728
NM_016222.4(DDX41):c.87C>T (p.Asp29=)
NM_016222.4(DDX41):c.892A>G (p.Ile298Val) rs1561733539
NM_016222.4(DDX41):c.916C>T (p.Gln306Ter) rs2127436963
NM_016222.4(DDX41):c.919A>G (p.Met307Val) rs1761139933
NM_016222.4(DDX41):c.920T>C (p.Met307Thr) rs996454252
NM_016222.4(DDX41):c.924G>T (p.Glu308Asp)
NM_016222.4(DDX41):c.930C>T (p.Ile310=) rs2532083525
NM_016222.4(DDX41):c.932G>T (p.Arg311Leu)
NM_016222.4(DDX41):c.935+12C>T rs1036094083
NM_016222.4(DDX41):c.935+4A>T rs1391902763
NM_016222.4(DDX41):c.936C>T (p.His312=)
NM_016222.4(DDX41):c.937G>C (p.Gly313Arg) rs780667117
NM_016222.4(DDX41):c.938G>A (p.Gly313Asp) rs768156226
NM_016222.4(DDX41):c.938G>T (p.Gly313Val)
NM_016222.4(DDX41):c.943C>T (p.His315Tyr)
NM_016222.4(DDX41):c.944A>C (p.His315Pro) rs2532081282
NM_016222.4(DDX41):c.94G>A (p.Asp32Asn) rs1245318068
NM_016222.4(DDX41):c.953T>G (p.Val318Gly)
NM_016222.4(DDX41):c.959C>T (p.Thr320Ile) rs2127436611
NM_016222.4(DDX41):c.967C>A (p.Arg323Ser)
NM_016222.4(DDX41):c.967C>T (p.Arg323Cys)
NM_016222.4(DDX41):c.972C>T (p.Leu324=)
NM_016222.4(DDX41):c.97dup (p.Tyr33fs)
NM_016222.4(DDX41):c.984G>A (p.Leu328=) rs754052450
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del) rs752201749
NM_016222.4(DDX41):c.986del (p.Gln329fs) rs1291520734

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