ClinVar Miner

List of variants in gene HMCN1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 1022
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser) rs60502467 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn) rs114669703 0.00259
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp) rs41317483 0.00239
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg) rs35856562 0.00193
NM_031935.3(HMCN1):c.4631-6_4635del rs568290303 0.00160
NM_031935.3(HMCN1):c.2372-3C>T rs186546131 0.00139
NM_031935.3(HMCN1):c.14336G>A (p.Arg4779Gln) rs144926247 0.00128
NM_031935.3(HMCN1):c.6305-16C>T rs183087222 0.00116
NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn) rs142909496 0.00115
NM_031935.3(HMCN1):c.13462G>A (p.Val4488Met) rs146552651 0.00113
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys) rs139490011 0.00113
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=) rs142456335 0.00112
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp) rs147995526 0.00111
NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser) rs146143836 0.00110
NM_031935.3(HMCN1):c.865G>A (p.Val289Met) rs144384070 0.00108
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.2978T>C (p.Ile993Thr) rs140061598 0.00098
NM_031935.3(HMCN1):c.9686T>C (p.Met3229Thr) rs144560225 0.00096
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) rs146671871 0.00093
NM_031935.3(HMCN1):c.9602G>A (p.Arg3201His) rs149077801 0.00084
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr) rs138190200 0.00081
NM_031935.3(HMCN1):c.13231-4A>G rs191690433 0.00081
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro) rs138290901 0.00076
NM_031935.3(HMCN1):c.9392G>A (p.Arg3131Lys) rs113241441 0.00072
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) rs121434382 0.00070
NM_031935.3(HMCN1):c.15527G>A (p.Arg5176His) rs150494959 0.00068
NM_031935.3(HMCN1):c.10532A>G (p.Glu3511Gly) rs143629026 0.00063
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala) rs201865736 0.00063
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val) rs150618921 0.00061
NM_031935.3(HMCN1):c.13313-20C>T rs139437150 0.00060
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His) rs147769095 0.00060
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser) rs138178673 0.00059
NM_031935.3(HMCN1):c.13089T>C (p.Leu4363=) rs41317495 0.00058
NM_031935.3(HMCN1):c.1344A>G (p.Gln448=) rs145612988 0.00058
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.3669C>T (p.Asp1223=) rs144051894 0.00055
NM_031935.3(HMCN1):c.3874+5G>A rs201803260 0.00054
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00050
NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln) rs146401446 0.00049
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr) rs143665535 0.00048
NM_031935.3(HMCN1):c.10903C>T (p.Arg3635Trp) rs34928488 0.00047
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=) rs146430539 0.00047
NM_031935.3(HMCN1):c.11042A>G (p.Asn3681Ser) rs145693979 0.00046
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe) rs137903471 0.00045
NM_031935.3(HMCN1):c.3626G>T (p.Ser1209Ile) rs573371474 0.00045
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.2765G>A (p.Arg922His) rs140928144 0.00043
NM_031935.3(HMCN1):c.7145C>T (p.Ala2382Val) rs140744695 0.00042
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr) rs150811327 0.00041
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser) rs141099682 0.00040
NM_031935.3(HMCN1):c.11404+11G>A rs187354891 0.00039
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys) rs137942830 0.00038
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val) rs138409434 0.00037
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=) rs140981285 0.00036
NM_031935.3(HMCN1):c.14322C>T (p.Asn4774=) rs139398979 0.00036
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=) rs141371119 0.00036
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) rs182468717 0.00035
NM_031935.3(HMCN1):c.9003T>C (p.Asn3001=) rs143086645 0.00035
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met) rs201628935 0.00033
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=) rs149752078 0.00031
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=) rs140778669 0.00030
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile) rs145758069 0.00029
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) rs41317503 0.00028
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281 0.00024
NM_031935.3(HMCN1):c.12377G>A (p.Arg4126His) rs141573564 0.00024
NM_031935.3(HMCN1):c.1479C>T (p.Asp493=) rs189175231 0.00024
NM_031935.3(HMCN1):c.5651A>T (p.Gln1884Leu) rs142871818 0.00024
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met) rs201379680 0.00023
NM_031935.3(HMCN1):c.1224T>C (p.Tyr408=) rs373089927 0.00022
NM_031935.3(HMCN1):c.1431-17C>T rs370334571 0.00020
NM_031935.3(HMCN1):c.14438-5C>A rs140571899 0.00020
NM_031935.3(HMCN1):c.2916T>G (p.Thr972=) rs200384314 0.00020
NM_031935.3(HMCN1):c.15440-9C>T rs374670687 0.00019
NM_031935.3(HMCN1):c.6852G>A (p.Leu2284=) rs141701245 0.00019
NM_031935.3(HMCN1):c.6315T>C (p.Asn2105=) rs373512659 0.00017
NM_031935.3(HMCN1):c.8291-8C>T rs372101261 0.00017
NM_031935.3(HMCN1):c.12500-17T>G rs370607941 0.00016
NM_031935.3(HMCN1):c.1546G>A (p.Val516Ile) rs199966462 0.00016
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=) rs145772673 0.00016
NM_031935.3(HMCN1):c.3030G>A (p.Pro1010=) rs377478076 0.00016
NM_031935.3(HMCN1):c.794-4_794-2dup rs34771656 0.00016
NM_031935.3(HMCN1):c.11916G>A (p.Ala3972=) rs374616091 0.00015
NM_031935.3(HMCN1):c.7185T>C (p.Asn2395=) rs781180478 0.00015
NM_031935.3(HMCN1):c.12229+18C>G rs539775023 0.00014
NM_031935.3(HMCN1):c.1545C>T (p.Asp515=) rs750371257 0.00014
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu) rs76432158 0.00014
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=) rs147891898 0.00013
NM_031935.3(HMCN1):c.12230-3T>C rs200662005 0.00012
NM_031935.3(HMCN1):c.13833G>A (p.Arg4611=) rs186418526 0.00012
NM_031935.3(HMCN1):c.1398T>C (p.Asn466=) rs149417407 0.00012
NM_031935.3(HMCN1):c.11849-18del rs760277967 0.00011
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr) rs145955451 0.00011
NM_031935.3(HMCN1):c.5559T>C (p.Ile1853=) rs373478640 0.00011
NM_031935.3(HMCN1):c.6305-14C>T rs369988539 0.00011
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln) rs137853916 0.00011
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=) rs368757349 0.00011
NM_031935.3(HMCN1):c.8140-11T>C rs371411934 0.00011
NM_031935.3(HMCN1):c.14140G>A (p.Val4714Met) rs770936849 0.00010
NM_031935.3(HMCN1):c.15789C>G (p.Thr5263=) rs757674939 0.00010
NM_031935.3(HMCN1):c.2343A>G (p.Ala781=) rs754555903 0.00010
NM_031935.3(HMCN1):c.3102T>C (p.Gly1034=) rs752004477 0.00010
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=) rs181852740 0.00010
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=) rs41317461 0.00009
NM_031935.3(HMCN1):c.4752C>T (p.Asp1584=) rs144362862 0.00009
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile) rs376810057 0.00009
NM_031935.3(HMCN1):c.13039+13G>A rs553369532 0.00008
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962 0.00008
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile) rs201176937 0.00008
NM_031935.3(HMCN1):c.5974G>A (p.Val1992Met) rs558576428 0.00008
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr) rs184081240 0.00007
NM_031935.3(HMCN1):c.13230+9C>T rs573598298 0.00006
NM_031935.3(HMCN1):c.13582+11T>C rs764698262 0.00006
NM_031935.3(HMCN1):c.3177C>T (p.Tyr1059=) rs757058220 0.00006
NM_031935.3(HMCN1):c.6795A>G (p.Ala2265=) rs576041088 0.00006
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=) rs758248236 0.00006
NM_031935.3(HMCN1):c.7681A>C (p.Arg2561=) rs780755707 0.00006
NM_031935.3(HMCN1):c.10294+7G>A rs199898360 0.00005
NM_031935.3(HMCN1):c.10503G>A (p.Ser3501=) rs145257193 0.00005
NM_031935.3(HMCN1):c.11205C>T (p.Ile3735=) rs557210222 0.00005
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=) rs150757082 0.00005
NM_031935.3(HMCN1):c.12804C>T (p.Asp4268=) rs147822137 0.00005
NM_031935.3(HMCN1):c.16719T>C (p.Asp5573=) rs779915950 0.00005
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser) rs772105060 0.00005
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln) rs777060812 0.00005
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=) rs183725854 0.00005
NM_031935.3(HMCN1):c.12019T>C (p.Leu4007=) rs1393069190 0.00004
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956 0.00004
NM_031935.3(HMCN1):c.13770G>A (p.Ser4590=) rs772713981 0.00004
NM_031935.3(HMCN1):c.13992G>C (p.Gln4664His) rs551261120 0.00004
NM_031935.3(HMCN1):c.14491G>A (p.Gly4831Arg) rs774478146 0.00004
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=) rs764895427 0.00004
NM_031935.3(HMCN1):c.15689-7T>C rs370901552 0.00004
NM_031935.3(HMCN1):c.16050C>T (p.Asp5350=) rs370263142 0.00004
NM_031935.3(HMCN1):c.16806C>T (p.Thr5602=) rs145370988 0.00004
NM_031935.3(HMCN1):c.1791T>A (p.Gly597=) rs1435651902 0.00004
NM_031935.3(HMCN1):c.3048+12A>G rs759007264 0.00004
NM_031935.3(HMCN1):c.3366G>A (p.Pro1122=) rs199798509 0.00004
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys) rs575710648 0.00004
NM_031935.3(HMCN1):c.4851G>A (p.Thr1617=) rs781719479 0.00004
NM_031935.3(HMCN1):c.498+15A>C rs565661847 0.00004
NM_031935.3(HMCN1):c.5749+6G>A rs575776317 0.00004
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=) rs747509922 0.00004
NM_031935.3(HMCN1):c.6701-4G>C rs780518184 0.00004
NM_031935.3(HMCN1):c.6933C>T (p.Ser2311=) rs752504748 0.00004
NM_031935.3(HMCN1):c.8485+14C>T rs201345841 0.00004
NM_031935.3(HMCN1):c.8814C>T (p.Ile2938=) rs772602156 0.00004
NM_031935.3(HMCN1):c.9046+13T>G rs371854479 0.00004
NM_031935.3(HMCN1):c.9249G>A (p.Ser3083=) rs756117010 0.00004
NM_031935.3(HMCN1):c.9446-10T>A rs753374697 0.00004
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) rs752255369 0.00003
NM_031935.3(HMCN1):c.10941A>G (p.Ala3647=) rs754756539 0.00003
NM_031935.3(HMCN1):c.10990-4C>T rs758073795 0.00003
NM_031935.3(HMCN1):c.12918T>C (p.Ser4306=) rs767191974 0.00003
NM_031935.3(HMCN1):c.14376G>A (p.Gly4792=) rs907872312 0.00003
NM_031935.3(HMCN1):c.14547T>C (p.Gly4849=) rs768675698 0.00003
NM_031935.3(HMCN1):c.16395C>T (p.His5465=) rs771046913 0.00003
NM_031935.3(HMCN1):c.2304C>T (p.Gly768=) rs373154967 0.00003
NM_031935.3(HMCN1):c.3874+18A>G rs760678057 0.00003
NM_031935.3(HMCN1):c.4910-14A>G rs767012387 0.00003
NM_031935.3(HMCN1):c.5136C>T (p.Cys1712=) rs747541664 0.00003
NM_031935.3(HMCN1):c.5325T>A (p.Ile1775=) rs571034789 0.00003
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser) rs199971679 0.00003
NM_031935.3(HMCN1):c.5852-12T>G rs373816059 0.00003
NM_031935.3(HMCN1):c.6578-11T>C rs751212954 0.00003
NM_031935.3(HMCN1):c.6863-6C>T rs202080081 0.00003
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His) rs559595305 0.00003
NM_031935.3(HMCN1):c.10716G>A (p.Thr3572=) rs751195555 0.00002
NM_031935.3(HMCN1):c.11280T>C (p.Tyr3760=) rs975428696 0.00002
NM_031935.3(HMCN1):c.11849-18A>T rs372836826 0.00002
NM_031935.3(HMCN1):c.12230-8T>C rs376872884 0.00002
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.13339G>C (p.Val4447Leu) rs748529848 0.00002
NM_031935.3(HMCN1):c.15320-7C>T rs745639179 0.00002
NM_031935.3(HMCN1):c.1557C>A (p.Pro519=) rs767276797 0.00002
NM_031935.3(HMCN1):c.16295-9C>T rs760760319 0.00002
NM_031935.3(HMCN1):c.2715G>A (p.Gln905=) rs746210473 0.00002
NM_031935.3(HMCN1):c.3779-8C>T rs750474171 0.00002
NM_031935.3(HMCN1):c.4278A>G (p.Ala1426=) rs750045357 0.00002
NM_031935.3(HMCN1):c.441C>T (p.Ser147=) rs759803254 0.00002
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=) rs146365142 0.00002
NM_031935.3(HMCN1):c.5750-4G>C rs530307991 0.00002
NM_031935.3(HMCN1):c.6753C>T (p.Gly2251=) rs751790241 0.00002
NM_031935.3(HMCN1):c.6816G>A (p.Ser2272=) rs760273562 0.00002
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) rs200327975 0.00002
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=) rs776416150 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.9047-12A>G rs767424930 0.00002
NM_031935.3(HMCN1):c.9138A>G (p.Lys3046=) rs779996381 0.00002
NM_031935.3(HMCN1):c.11276+8T>C rs572790212 0.00001
NM_031935.3(HMCN1):c.11382G>A (p.Arg3794=) rs530972182 0.00001
NM_031935.3(HMCN1):c.11766A>G (p.Gly3922=) rs746063194 0.00001
NM_031935.3(HMCN1):c.12120T>C (p.Ser4040=) rs894169400 0.00001
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=) rs886045682 0.00001
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=) rs1160639880 0.00001
NM_031935.3(HMCN1):c.12696G>A (p.Glu4232=) rs747361477 0.00001
NM_031935.3(HMCN1):c.1285+7C>T rs753115471 0.00001
NM_031935.3(HMCN1):c.1286-10T>C rs778524547 0.00001
NM_031935.3(HMCN1):c.13039+12C>T rs778133023 0.00001
NM_031935.3(HMCN1):c.13281G>C (p.Val4427=) rs377383392 0.00001
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=) rs763275429 0.00001
NM_031935.3(HMCN1):c.13554C>T (p.Val4518=) rs1480140095 0.00001
NM_031935.3(HMCN1):c.13925-20G>C rs756768991 0.00001
NM_031935.3(HMCN1):c.14034T>G (p.Gly4678=) rs755352114 0.00001
NM_031935.3(HMCN1):c.14896+8T>A rs767566761 0.00001
NM_031935.3(HMCN1):c.15450G>A (p.Glu5150=) rs538514435 0.00001
NM_031935.3(HMCN1):c.15499A>G (p.Thr5167Ala) rs201241621 0.00001
NM_031935.3(HMCN1):c.1553-12G>T rs1205046727 0.00001
NM_031935.3(HMCN1):c.15744C>T (p.Thr5248=) rs773089753 0.00001
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=) rs373461955 0.00001
NM_031935.3(HMCN1):c.16294+7G>T rs553948621 0.00001
NM_031935.3(HMCN1):c.16638C>T (p.Ala5546=) rs1486169938 0.00001
NM_031935.3(HMCN1):c.1971-15G>A rs1460221233 0.00001
NM_031935.3(HMCN1):c.2269T>C (p.Leu757=) rs1159764701 0.00001
NM_031935.3(HMCN1):c.2310T>C (p.Tyr770=) rs1255076720 0.00001
NM_031935.3(HMCN1):c.2791-9T>C rs780685435 0.00001
NM_031935.3(HMCN1):c.3208+15A>G rs769373370 0.00001
NM_031935.3(HMCN1):c.3377+10C>G rs928644972 0.00001
NM_031935.3(HMCN1):c.4938C>T (p.Ala1646=) rs745685739 0.00001
NM_031935.3(HMCN1):c.498+11A>C rs770974983 0.00001
NM_031935.3(HMCN1):c.5091C>T (p.Leu1697=) rs763098500 0.00001
NM_031935.3(HMCN1):c.540T>C (p.His180=) rs780108870 0.00001
NM_031935.3(HMCN1):c.5556G>A (p.Gly1852=) rs771819699 0.00001
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=) rs769758485 0.00001
NM_031935.3(HMCN1):c.5721A>G (p.Thr1907=) rs1031893642 0.00001
NM_031935.3(HMCN1):c.5749+16C>T rs1454526890 0.00001
NM_031935.3(HMCN1):c.5750-10C>T rs773661619 0.00001
NM_031935.3(HMCN1):c.6028+15A>G rs779001149 0.00001
NM_031935.3(HMCN1):c.6181-7T>C rs373788542 0.00001
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=) rs777752487 0.00001
NM_031935.3(HMCN1):c.6420C>T (p.Asp2140=) rs1413433754 0.00001
NM_031935.3(HMCN1):c.6909T>C (p.Ile2303=) rs767616401 0.00001
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194 0.00001
NM_031935.3(HMCN1):c.7392T>C (p.Gly2464=) rs548624423 0.00001
NM_031935.3(HMCN1):c.7427-15G>T rs1339019234 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.7647A>G (p.Thr2549=) rs368837087 0.00001
NM_031935.3(HMCN1):c.793+9T>C rs375021941 0.00001
NM_031935.3(HMCN1):c.7993+16A>G rs1017402724 0.00001
NM_031935.3(HMCN1):c.8151C>T (p.Ser2717=) rs371109396 0.00001
NM_031935.3(HMCN1):c.8290+9A>G rs752215784 0.00001
NM_031935.3(HMCN1):c.8885-17del rs1241301302 0.00001
NM_031935.3(HMCN1):c.8925C>T (p.Thr2975=) rs768922365 0.00001
NM_031935.3(HMCN1):c.900+12T>C rs952357263 0.00001
NM_031935.3(HMCN1):c.9012C>T (p.Pro3004=) rs201032456 0.00001
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.9564C>T (p.Asn3188=) rs765030856 0.00001
NM_031935.3(HMCN1):c.9570G>A (p.Lys3190=) rs1195586500 0.00001
NM_031935.3(HMCN1):c.9888-12T>A rs746649687 0.00001
NM_031935.3(HMCN1):c.10012+10A>G
NM_031935.3(HMCN1):c.10012+14A>G
NM_031935.3(HMCN1):c.10012+9G>T
NM_031935.3(HMCN1):c.10013-7A>C rs748670419
NM_031935.3(HMCN1):c.10107G>A (p.Thr3369=)
NM_031935.3(HMCN1):c.10129C>T (p.Leu3377=)
NM_031935.3(HMCN1):c.10140A>G (p.Gly3380=)
NM_031935.3(HMCN1):c.10164T>C (p.His3388=)
NM_031935.3(HMCN1):c.10182A>C (p.Ala3394=)
NM_031935.3(HMCN1):c.1021+15A>T
NM_031935.3(HMCN1):c.1022-7C>T
NM_031935.3(HMCN1):c.10224C>T (p.Val3408=)
NM_031935.3(HMCN1):c.10294+10A>C
NM_031935.3(HMCN1):c.10294+12A>G
NM_031935.3(HMCN1):c.10295-6A>G
NM_031935.3(HMCN1):c.10299A>G (p.Pro3433=)
NM_031935.3(HMCN1):c.10383A>C (p.Gly3461=)
NM_031935.3(HMCN1):c.10389A>C (p.Pro3463=)
NM_031935.3(HMCN1):c.10398T>C (p.Ser3466=)
NM_031935.3(HMCN1):c.10482C>G (p.Leu3494=)
NM_031935.3(HMCN1):c.10512C>T (p.Tyr3504=)
NM_031935.3(HMCN1):c.10545C>A (p.Val3515=) rs2102423250
NM_031935.3(HMCN1):c.10563C>T (p.Leu3521=)
NM_031935.3(HMCN1):c.10573+13T>C
NM_031935.3(HMCN1):c.10574-10C>T
NM_031935.3(HMCN1):c.10623T>C (p.Ile3541=)
NM_031935.3(HMCN1):c.10632C>T (p.Asn3544=)
NM_031935.3(HMCN1):c.10647C>G (p.Thr3549=)
NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val)
NM_031935.3(HMCN1):c.10683C>T (p.Thr3561=)
NM_031935.3(HMCN1):c.10704C>T (p.Pro3568=)
NM_031935.3(HMCN1):c.10770+19A>T
NM_031935.3(HMCN1):c.10771-10G>C rs753273442
NM_031935.3(HMCN1):c.10791T>C (p.Tyr3597=)
NM_031935.3(HMCN1):c.10797T>C (p.Cys3599=)
NM_031935.3(HMCN1):c.10800G>A (p.Leu3600=) rs1571359760
NM_031935.3(HMCN1):c.10852+18T>C
NM_031935.3(HMCN1):c.10853-18A>G
NM_031935.3(HMCN1):c.10853-5C>A
NM_031935.3(HMCN1):c.10853-7C>T
NM_031935.3(HMCN1):c.10893C>A (p.Ile3631=)
NM_031935.3(HMCN1):c.10896T>C (p.Thr3632=)
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser)
NM_031935.3(HMCN1):c.10944G>A (p.Val3648=)
NM_031935.3(HMCN1):c.10947C>T (p.Pro3649=)
NM_031935.3(HMCN1):c.10953T>C (p.Pro3651=)
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) rs141818688
NM_031935.3(HMCN1):c.10989+16A>T
NM_031935.3(HMCN1):c.11040C>T (p.Asn3680=)
NM_031935.3(HMCN1):c.11064C>A (p.Ala3688=) rs2102468918
NM_031935.3(HMCN1):c.11070T>C (p.Tyr3690=)
NM_031935.3(HMCN1):c.11085C>T (p.Ser3695=)
NM_031935.3(HMCN1):c.11091T>C (p.Ile3697=)
NM_031935.3(HMCN1):c.11106A>G (p.Thr3702=)
NM_031935.3(HMCN1):c.11131+18T>C
NM_031935.3(HMCN1):c.11131+19T>G
NM_031935.3(HMCN1):c.11132-6G>A
NM_031935.3(HMCN1):c.11153G>A (p.Gly3718Asp)
NM_031935.3(HMCN1):c.11157C>T (p.Pro3719=) rs2102471489
NM_031935.3(HMCN1):c.11220A>G (p.Pro3740=)
NM_031935.3(HMCN1):c.11223T>C (p.Thr3741=)
NM_031935.3(HMCN1):c.11244G>A (p.Lys3748=)
NM_031935.3(HMCN1):c.11274A>G (p.Ala3758=)
NM_031935.3(HMCN1):c.11276+10C>G
NM_031935.3(HMCN1):c.11276+14A>G rs1396302930
NM_031935.3(HMCN1):c.11276+7A>G rs372107481
NM_031935.3(HMCN1):c.11277-15T>C
NM_031935.3(HMCN1):c.11277-18T>A
NM_031935.3(HMCN1):c.11277-6T>C
NM_031935.3(HMCN1):c.11277-7C>T
NM_031935.3(HMCN1):c.11277-9C>G
NM_031935.3(HMCN1):c.11313A>G (p.Gln3771=)
NM_031935.3(HMCN1):c.11315C>T (p.Ser3772Leu)
NM_031935.3(HMCN1):c.11319A>C (p.Ala3773=)
NM_031935.3(HMCN1):c.11358C>G (p.Thr3786=)
NM_031935.3(HMCN1):c.11384G>A (p.Arg3795Gln)
NM_031935.3(HMCN1):c.11404+10C>G
NM_031935.3(HMCN1):c.11412A>G (p.Pro3804=)
NM_031935.3(HMCN1):c.11433C>A (p.Thr3811=)
NM_031935.3(HMCN1):c.11433C>T (p.Thr3811=)
NM_031935.3(HMCN1):c.1143A>T (p.Pro381=)
NM_031935.3(HMCN1):c.11463T>A (p.Thr3821=)
NM_031935.3(HMCN1):c.11467C>T (p.Leu3823=)
NM_031935.3(HMCN1):c.11484T>C (p.Thr3828=)
NM_031935.3(HMCN1):c.11523G>A (p.Gly3841=)
NM_031935.3(HMCN1):c.11544A>G (p.Gln3848=)
NM_031935.3(HMCN1):c.11561+20_11561+22del
NM_031935.3(HMCN1):c.11583A>G (p.Leu3861=)
NM_031935.3(HMCN1):c.1158T>C (p.Tyr386=) rs2102477430
NM_031935.3(HMCN1):c.11664T>C (p.Thr3888=) rs996571894
NM_031935.3(HMCN1):c.11683+16A>T
NM_031935.3(HMCN1):c.11684-10G>A
NM_031935.3(HMCN1):c.11684-12T>C
NM_031935.3(HMCN1):c.11684-18T>A
NM_031935.3(HMCN1):c.11684-21TTG[4]
NM_031935.3(HMCN1):c.11706G>A (p.Glu3902=)
NM_031935.3(HMCN1):c.1170T>C (p.Asn390=)
NM_031935.3(HMCN1):c.11757T>C (p.Thr3919=)
NM_031935.3(HMCN1):c.11793C>G (p.Thr3931=)
NM_031935.3(HMCN1):c.11848+15del
NM_031935.3(HMCN1):c.11848+7C>T
NM_031935.3(HMCN1):c.11849-10del rs201254359
NM_031935.3(HMCN1):c.11871C>G (p.Thr3957=) rs370095269
NM_031935.3(HMCN1):c.11880C>T (p.Asn3960=)
NM_031935.3(HMCN1):c.11895C>T (p.Tyr3965=) rs780038431
NM_031935.3(HMCN1):c.11904C>T (p.Val3968=)
NM_031935.3(HMCN1):c.1191A>G (p.Pro397=)
NM_031935.3(HMCN1):c.11937C>T (p.His3979=)
NM_031935.3(HMCN1):c.11943C>A (p.Thr3981=)
NM_031935.3(HMCN1):c.11948A>G (p.His3983Arg)
NM_031935.3(HMCN1):c.11956+15T>C
NM_031935.3(HMCN1):c.11956+9_11956+17del
NM_031935.3(HMCN1):c.11957-12G>T
NM_031935.3(HMCN1):c.11957-16_11957-13dup
NM_031935.3(HMCN1):c.11957-9T>C
NM_031935.3(HMCN1):c.12006C>T (p.Asn4002=)
NM_031935.3(HMCN1):c.12060T>C (p.Thr4020=)
NM_031935.3(HMCN1):c.12066A>G (p.Gln4022=)
NM_031935.3(HMCN1):c.12094+11C>A
NM_031935.3(HMCN1):c.12095-18T>A
NM_031935.3(HMCN1):c.12102C>T (p.Asn4034=)
NM_031935.3(HMCN1):c.12111T>A (p.Val4037=)
NM_031935.3(HMCN1):c.12123C>T (p.Gly4041=)
NM_031935.3(HMCN1):c.12183G>A (p.Gln4061=)
NM_031935.3(HMCN1):c.12186C>T (p.Asn4062=)
NM_031935.3(HMCN1):c.12201C>T (p.Ala4067=)
NM_031935.3(HMCN1):c.12229+20_12229+21del
NM_031935.3(HMCN1):c.12230-11G>C
NM_031935.3(HMCN1):c.12246C>T (p.Ser4082=)
NM_031935.3(HMCN1):c.12258G>A (p.Lys4086=)
NM_031935.3(HMCN1):c.12333A>C (p.Thr4111=)
NM_031935.3(HMCN1):c.12333A>G (p.Thr4111=)
NM_031935.3(HMCN1):c.1233T>C (p.Asp411=)
NM_031935.3(HMCN1):c.12348G>A (p.Gly4116=)
NM_031935.3(HMCN1):c.12378C>T (p.Arg4126=)
NM_031935.3(HMCN1):c.12402A>G (p.Gln4134=)
NM_031935.3(HMCN1):c.12456T>C (p.Asn4152=)
NM_031935.3(HMCN1):c.12500-15_12500-14del
NM_031935.3(HMCN1):c.12500-8C>T
NM_031935.3(HMCN1):c.12507C>G (p.Pro4169=)
NM_031935.3(HMCN1):c.12537G>A (p.Thr4179=)
NM_031935.3(HMCN1):c.12603C>T (p.Asn4201=)
NM_031935.3(HMCN1):c.12624T>C (p.Leu4208=)
NM_031935.3(HMCN1):c.12654T>C (p.Ala4218=)
NM_031935.3(HMCN1):c.12690+15C>G rs374516199
NM_031935.3(HMCN1):c.12690+15C>T
NM_031935.3(HMCN1):c.12690+3_12690+7dup rs750497296
NM_031935.3(HMCN1):c.12691-16C>T
NM_031935.3(HMCN1):c.12691-17A>C
NM_031935.3(HMCN1):c.12720T>C (p.Val4240=)
NM_031935.3(HMCN1):c.12744T>C (p.Asp4248=)
NM_031935.3(HMCN1):c.12753T>A (p.Thr4251=) rs1349163721
NM_031935.3(HMCN1):c.12765T>A (p.Thr4255=)
NM_031935.3(HMCN1):c.12777C>T (p.Leu4259=) rs758029050
NM_031935.3(HMCN1):c.12807G>A (p.Val4269=)
NM_031935.3(HMCN1):c.1286-18T>A
NM_031935.3(HMCN1):c.12861A>G (p.Pro4287=) rs151052679
NM_031935.3(HMCN1):c.12904+14T>C rs1661747290
NM_031935.3(HMCN1):c.12905-18G>T
NM_031935.3(HMCN1):c.12906C>G (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.12957A>C (p.Ser4319=)
NM_031935.3(HMCN1):c.12978T>C (p.Tyr4326=)
NM_031935.3(HMCN1):c.12979G>A (p.Val4327Met)
NM_031935.3(HMCN1):c.13017A>G (p.Ala4339=)
NM_031935.3(HMCN1):c.13039+19_13039+24del
NM_031935.3(HMCN1):c.13040-12del
NM_031935.3(HMCN1):c.13040-17C>A rs188408113
NM_031935.3(HMCN1):c.13040-18T>A
NM_031935.3(HMCN1):c.13047A>C (p.Pro4349=)
NM_031935.3(HMCN1):c.13209C>T (p.Ser4403=)
NM_031935.3(HMCN1):c.1320A>G (p.Pro440=)
NM_031935.3(HMCN1):c.13227T>C (p.Thr4409=)
NM_031935.3(HMCN1):c.13230+7C>T
NM_031935.3(HMCN1):c.13231-14del
NM_031935.3(HMCN1):c.13231-17G>T
NM_031935.3(HMCN1):c.13233T>C (p.Asn4411=)
NM_031935.3(HMCN1):c.1323A>G (p.Gly441=)
NM_031935.3(HMCN1):c.13278G>A (p.Gly4426=)
NM_031935.3(HMCN1):c.13313-14G>A
NM_031935.3(HMCN1):c.13335G>A (p.Glu4445=)
NM_031935.3(HMCN1):c.13347T>A (p.Thr4449=)
NM_031935.3(HMCN1):c.13375T>C (p.Leu4459=)
NM_031935.3(HMCN1):c.13386G>A (p.Gln4462=)
NM_031935.3(HMCN1):c.13407A>G (p.Pro4469=)
NM_031935.3(HMCN1):c.13416A>G (p.Thr4472=)
NM_031935.3(HMCN1):c.13434C>T (p.His4478=)
NM_031935.3(HMCN1):c.13512C>T (p.Thr4504=) rs1253360365
NM_031935.3(HMCN1):c.13542A>G (p.Leu4514=) rs2102533848
NM_031935.3(HMCN1):c.13554C>A (p.Val4518=)
NM_031935.3(HMCN1):c.1359T>G (p.Val453=)
NM_031935.3(HMCN1):c.13626T>C (p.Ser4542=)
NM_031935.3(HMCN1):c.13659T>C (p.Ser4553=)
NM_031935.3(HMCN1):c.13686C>G (p.Ala4562=)
NM_031935.3(HMCN1):c.13689T>C (p.Asn4563=)
NM_031935.3(HMCN1):c.13695G>A (p.Gly4565=)
NM_031935.3(HMCN1):c.13695G>C (p.Gly4565=) rs944831596
NM_031935.3(HMCN1):c.13753+10C>T
NM_031935.3(HMCN1):c.13754-19A>C
NM_031935.3(HMCN1):c.13797A>G (p.Thr4599=)
NM_031935.3(HMCN1):c.13800G>A (p.Arg4600=)
NM_031935.3(HMCN1):c.13812C>T (p.Arg4604=)
NM_031935.3(HMCN1):c.13867C>T (p.Arg4623Trp)
NM_031935.3(HMCN1):c.13881G>A (p.Gly4627=)
NM_031935.3(HMCN1):c.13881G>C (p.Gly4627=)
NM_031935.3(HMCN1):c.13908C>T (p.Asn4636=)
NM_031935.3(HMCN1):c.13925-18C>G
NM_031935.3(HMCN1):c.1392C>T (p.Val464=)
NM_031935.3(HMCN1):c.13941C>T (p.Ser4647=)
NM_031935.3(HMCN1):c.1407A>G (p.Thr469=)
NM_031935.3(HMCN1):c.14088T>C (p.Asn4696=)
NM_031935.3(HMCN1):c.14095+15_14095+16del rs1650151052
NM_031935.3(HMCN1):c.14096-18C>G
NM_031935.3(HMCN1):c.14096-4C>G
NM_031935.3(HMCN1):c.14112G>A (p.Ala4704=)
NM_031935.3(HMCN1):c.14160C>T (p.Ala4720=)
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr)
NM_031935.3(HMCN1):c.14184C>T (p.Ser4728=)
NM_031935.3(HMCN1):c.14196C>A (p.Pro4732=)
NM_031935.3(HMCN1):c.14199G>A (p.Gln4733=)
NM_031935.3(HMCN1):c.14217C>T (p.Cys4739=)
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.1430+10T>C
NM_031935.3(HMCN1):c.1430+16T>C
NM_031935.3(HMCN1):c.1431-18C>T
NM_031935.3(HMCN1):c.14316G>A (p.Thr4772=)
NM_031935.3(HMCN1):c.14316G>C (p.Thr4772=)
NM_031935.3(HMCN1):c.14328G>A (p.Gly4776=)
NM_031935.3(HMCN1):c.14340G>T (p.Arg4780=)
NM_031935.3(HMCN1):c.1434A>G (p.Glu478=)
NM_031935.3(HMCN1):c.14364T>C (p.Pro4788=)
NM_031935.3(HMCN1):c.14373T>C (p.Asn4791=)
NM_031935.3(HMCN1):c.14397A>C (p.Pro4799=)
NM_031935.3(HMCN1):c.14437+20G>C
NM_031935.3(HMCN1):c.14437+7C>G
NM_031935.3(HMCN1):c.1443T>C (p.Ser481=)
NM_031935.3(HMCN1):c.14478C>T (p.Cys4826=)
NM_031935.3(HMCN1):c.14502A>G (p.Glu4834=)
NM_031935.3(HMCN1):c.14523C>T (p.Cys4841=)
NM_031935.3(HMCN1):c.14583C>T (p.Thr4861=)
NM_031935.3(HMCN1):c.14597A>T (p.Gln4866Leu)
NM_031935.3(HMCN1):c.14598A>G (p.Gln4866=)
NM_031935.3(HMCN1):c.14608+9C>G
NM_031935.3(HMCN1):c.14609-13T>G
NM_031935.3(HMCN1):c.14609-16T>C
NM_031935.3(HMCN1):c.14609-19T>C
NM_031935.3(HMCN1):c.14609-19T>G
NM_031935.3(HMCN1):c.14609-7C>G
NM_031935.3(HMCN1):c.14609-8C>T
NM_031935.3(HMCN1):c.14616C>A (p.Pro4872=) rs2102573631
NM_031935.3(HMCN1):c.14625C>T (p.Ala4875=)
NM_031935.3(HMCN1):c.14709T>G (p.Ser4903=)
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561
NM_031935.3(HMCN1):c.14758+15dup rs930917760
NM_031935.3(HMCN1):c.14759-14T>C
NM_031935.3(HMCN1):c.14759-19T>C
NM_031935.3(HMCN1):c.14759-7del rs756561243
NM_031935.3(HMCN1):c.14784T>C (p.Ser4928=)
NM_031935.3(HMCN1):c.14796C>T (p.Pro4932=)
NM_031935.3(HMCN1):c.14853C>T (p.Thr4951=) rs1650674909
NM_031935.3(HMCN1):c.14859A>G (p.Ala4953=)
NM_031935.3(HMCN1):c.14896+7G>A
NM_031935.3(HMCN1):c.14897-11G>A
NM_031935.3(HMCN1):c.14897-3del
NM_031935.3(HMCN1):c.14897-8del
NM_031935.3(HMCN1):c.14931C>T (p.Gly4977=)
NM_031935.3(HMCN1):c.14940C>T (p.Ser4980=)
NM_031935.3(HMCN1):c.15019-15C>T
NM_031935.3(HMCN1):c.1503T>C (p.Ala501=)
NM_031935.3(HMCN1):c.15069C>T (p.Tyr5023=)
NM_031935.3(HMCN1):c.15126C>T (p.Thr5042=)
NM_031935.3(HMCN1):c.15129T>C (p.Val5043=)
NM_031935.3(HMCN1):c.15189T>G (p.Ser5063=) rs978134981
NM_031935.3(HMCN1):c.15240T>C (p.His5080=)
NM_031935.3(HMCN1):c.15256+15G>C
NM_031935.3(HMCN1):c.15256+7dup
NM_031935.3(HMCN1):c.1527G>A (p.Arg509=)
NM_031935.3(HMCN1):c.1527G>C (p.Arg509=)
NM_031935.3(HMCN1):c.15288T>C (p.Phe5096=)
NM_031935.3(HMCN1):c.15300A>G (p.Ser5100=)
NM_031935.3(HMCN1):c.15320-8T>C
NM_031935.3(HMCN1):c.15330A>G (p.Glu5110=)
NM_031935.3(HMCN1):c.1536A>G (p.Thr512=)
NM_031935.3(HMCN1):c.15387C>T (p.Tyr5129=)
NM_031935.3(HMCN1):c.15390C>T (p.Cys5130=)
NM_031935.3(HMCN1):c.15439+7A>C
NM_031935.3(HMCN1):c.15440-11C>T
NM_031935.3(HMCN1):c.15477C>T (p.His5159=)
NM_031935.3(HMCN1):c.15514C>T (p.Arg5172Cys)
NM_031935.3(HMCN1):c.1552+9del
NM_031935.3(HMCN1):c.1553-20A>C
NM_031935.3(HMCN1):c.1553-7C>G
NM_031935.3(HMCN1):c.15574+16C>A
NM_031935.3(HMCN1):c.15574+20T>C
NM_031935.3(HMCN1):c.15574+7A>C
NM_031935.3(HMCN1):c.15574+8A>G
NM_031935.3(HMCN1):c.15575-19G>A rs960957594
NM_031935.3(HMCN1):c.15575-20A>C
NM_031935.3(HMCN1):c.15603C>T (p.Pro5201=)
NM_031935.3(HMCN1):c.15645T>C (p.Cys5215=)
NM_031935.3(HMCN1):c.15669C>G (p.Leu5223=) rs1571459156
NM_031935.3(HMCN1):c.15684C>T (p.Cys5228=)
NM_031935.3(HMCN1):c.15689-10T>C
NM_031935.3(HMCN1):c.15696C>T (p.Asn5232=)
NM_031935.3(HMCN1):c.15815-20C>T
NM_031935.3(HMCN1):c.15815-4G>A
NM_031935.3(HMCN1):c.15828T>C (p.Cys5276=)
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=) rs538516291
NM_031935.3(HMCN1):c.15885C>T (p.Ser5295=)
NM_031935.3(HMCN1):c.15936C>T (p.Pro5312=)
NM_031935.3(HMCN1):c.15943+19G>A
NM_031935.3(HMCN1):c.15944-14T>C
NM_031935.3(HMCN1):c.15944-16C>T
NM_031935.3(HMCN1):c.15944-4G>A
NM_031935.3(HMCN1):c.15944-6G>A
NM_031935.3(HMCN1):c.15996C>T (p.Asn5332=)
NM_031935.3(HMCN1):c.16039T>C (p.Leu5347=)
NM_031935.3(HMCN1):c.16047G>T (p.Gly5349=)
NM_031935.3(HMCN1):c.1605G>A (p.Glu535=) rs1667663391
NM_031935.3(HMCN1):c.16062C>T (p.Cys5354=)
NM_031935.3(HMCN1):c.16095T>A (p.Thr5365=)
NM_031935.3(HMCN1):c.16101C>T (p.Tyr5367=)
NM_031935.3(HMCN1):c.16125C>T (p.Phe5375=)
NM_031935.3(HMCN1):c.16143C>T (p.Asn5381=) rs1652746737
NM_031935.3(HMCN1):c.16295-17G>C
NM_031935.3(HMCN1):c.16305A>G (p.Glu5435=) rs2102667361
NM_031935.3(HMCN1):c.16314T>C (p.Asn5438=)
NM_031935.3(HMCN1):c.16347C>T (p.Thr5449=)
NM_031935.3(HMCN1):c.16407A>G (p.Thr5469=)
NM_031935.3(HMCN1):c.16414+15G>C
NM_031935.3(HMCN1):c.16414+19del rs2102667792
NM_031935.3(HMCN1):c.16542-20G>T
NM_031935.3(HMCN1):c.16590C>T (p.Ser5530=)
NM_031935.3(HMCN1):c.16593A>C (p.Pro5531=)
NM_031935.3(HMCN1):c.16614C>T (p.Leu5538=)
NM_031935.3(HMCN1):c.16647A>G (p.Gln5549=)
NM_031935.3(HMCN1):c.16674A>G (p.Thr5558=)
NM_031935.3(HMCN1):c.16695C>T (p.Pro5565=)
NM_031935.3(HMCN1):c.16701A>T (p.Thr5567=)
NM_031935.3(HMCN1):c.16710C>T (p.Leu5570=)
NM_031935.3(HMCN1):c.16746G>A (p.Leu5582=)
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val)
NM_031935.3(HMCN1):c.16779A>G (p.Thr5593=)
NM_031935.3(HMCN1):c.16792C>A (p.Arg5598=)
NM_031935.3(HMCN1):c.16827C>T (p.Ala5609=)
NM_031935.3(HMCN1):c.16881T>C (p.Tyr5627=)
NM_031935.3(HMCN1):c.1698G>A (p.Ala566=)
NM_031935.3(HMCN1):c.1719T>C (p.Asn573=)
NM_031935.3(HMCN1):c.1725A>G (p.Ser575=)
NM_031935.3(HMCN1):c.1752C>T (p.Asn584=)
NM_031935.3(HMCN1):c.1779T>C (p.Val593=)
NM_031935.3(HMCN1):c.1800A>G (p.Ser600=)
NM_031935.3(HMCN1):c.1803C>T (p.Ala601=)
NM_031935.3(HMCN1):c.1828+12T>C
NM_031935.3(HMCN1):c.1829-18G>T
NM_031935.3(HMCN1):c.1863G>A (p.Gln621=)
NM_031935.3(HMCN1):c.1944C>T (p.Asn648=)
NM_031935.3(HMCN1):c.1971-12T>A
NM_031935.3(HMCN1):c.2016T>A (p.Ala672=)
NM_031935.3(HMCN1):c.2031G>T (p.Gly677=)
NM_031935.3(HMCN1):c.2040T>A (p.Gly680=)
NM_031935.3(HMCN1):c.207G>A (p.Thr69=)
NM_031935.3(HMCN1):c.2099-17G>A
NM_031935.3(HMCN1):c.2099-18C>T
NM_031935.3(HMCN1):c.2118A>T (p.Val706=)
NM_031935.3(HMCN1):c.2212+12C>G
NM_031935.3(HMCN1):c.2213-12G>A rs1393749923
NM_031935.3(HMCN1):c.2213-16C>G
NM_031935.3(HMCN1):c.2213-17C>T
NM_031935.3(HMCN1):c.2213-19C>T rs760811951
NM_031935.3(HMCN1):c.2213-7G>A
NM_031935.3(HMCN1):c.2223G>A (p.Glu741=)
NM_031935.3(HMCN1):c.2235A>T (p.Ser745=)
NM_031935.3(HMCN1):c.2244C>T (p.Leu748=)
NM_031935.3(HMCN1):c.2325C>T (p.Ile775=)
NM_031935.3(HMCN1):c.2372-20T>C
NM_031935.3(HMCN1):c.243T>C (p.Phe81=)
NM_031935.3(HMCN1):c.2443T>C (p.Tyr815His)
NM_031935.3(HMCN1):c.2448T>C (p.Val816=)
NM_031935.3(HMCN1):c.252G>A (p.Val84=)
NM_031935.3(HMCN1):c.2562T>C (p.Ile854=)
NM_031935.3(HMCN1):c.2567-14G>A
NM_031935.3(HMCN1):c.2567-7C>T
NM_031935.3(HMCN1):c.2616G>A (p.Gln872=)
NM_031935.3(HMCN1):c.264T>C (p.Asp88=)
NM_031935.3(HMCN1):c.2652G>C (p.Val884=)
NM_031935.3(HMCN1):c.2655C>T (p.Thr885=) rs1306644036
NM_031935.3(HMCN1):c.2663-20T>C
NM_031935.3(HMCN1):c.2663-6A>C
NM_031935.3(HMCN1):c.2663-6A>T rs376950753
NM_031935.3(HMCN1):c.269-20T>C
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=) rs775972475
NM_031935.3(HMCN1):c.2737C>T (p.Leu913=) rs1558115859
NM_031935.3(HMCN1):c.2739G>A (p.Leu913=)
NM_031935.3(HMCN1):c.2748A>G (p.Gly916=)
NM_031935.3(HMCN1):c.2758C>T (p.Pro920Ser)
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.276C>T (p.Gly92=)
NM_031935.3(HMCN1):c.2791-16T>G
NM_031935.3(HMCN1):c.2791-17T>A
NM_031935.3(HMCN1):c.2791-20A>C
NM_031935.3(HMCN1):c.2808C>T (p.Tyr936=)
NM_031935.3(HMCN1):c.2835C>A (p.Leu945=)
NM_031935.3(HMCN1):c.2838T>C (p.His946=)
NM_031935.3(HMCN1):c.2922T>C (p.Ser974=)
NM_031935.3(HMCN1):c.2925G>T (p.Val975=)
NM_031935.3(HMCN1):c.2935+11C>T
NM_031935.3(HMCN1):c.2935+16A>G
NM_031935.3(HMCN1):c.2935+18T>C
NM_031935.3(HMCN1):c.2936-14A>G
NM_031935.3(HMCN1):c.2955T>C (p.His985=)
NM_031935.3(HMCN1):c.3003A>T (p.Pro1001=)
NM_031935.3(HMCN1):c.3045C>G (p.Ser1015=)
NM_031935.3(HMCN1):c.3048+7G>A
NM_031935.3(HMCN1):c.3049-11G>A
NM_031935.3(HMCN1):c.3049-12C>T
NM_031935.3(HMCN1):c.3049-14G>A
NM_031935.3(HMCN1):c.3049-15C>T
NM_031935.3(HMCN1):c.3066A>T (p.Ser1022=)
NM_031935.3(HMCN1):c.3084T>C (p.Phe1028=)
NM_031935.3(HMCN1):c.30A>G (p.Val10=)
NM_031935.3(HMCN1):c.3153C>T (p.Cys1051=)
NM_031935.3(HMCN1):c.3171C>T (p.Ala1057=)
NM_031935.3(HMCN1):c.3198A>G (p.Leu1066=)
NM_031935.3(HMCN1):c.3208+6A>T
NM_031935.3(HMCN1):c.3209-11G>A
NM_031935.3(HMCN1):c.3209-14T>C
NM_031935.3(HMCN1):c.3209-15A>T
NM_031935.3(HMCN1):c.3222G>T (p.Val1074=)
NM_031935.3(HMCN1):c.3234A>G (p.Gln1078=)
NM_031935.3(HMCN1):c.3255G>A (p.Lys1085=)
NM_031935.3(HMCN1):c.3270C>T (p.Ser1090=)
NM_031935.3(HMCN1):c.3336T>A (p.Thr1112=)
NM_031935.3(HMCN1):c.3372T>A (p.Ser1124=)
NM_031935.3(HMCN1):c.3378-20A>G
NM_031935.3(HMCN1):c.3389T>A (p.Leu1130His)
NM_031935.3(HMCN1):c.339+17A>G
NM_031935.3(HMCN1):c.339+19T>A
NM_031935.3(HMCN1):c.340-3C>T
NM_031935.3(HMCN1):c.340-9A>G
NM_031935.3(HMCN1):c.3462T>C (p.Asn1154=)
NM_031935.3(HMCN1):c.3498T>C (p.Asn1166=) rs2102037213
NM_031935.3(HMCN1):c.3505+12A>G
NM_031935.3(HMCN1):c.3506-18C>G
NM_031935.3(HMCN1):c.3510T>G (p.Pro1170=)
NM_031935.3(HMCN1):c.3576T>C (p.Cys1192=)
NM_031935.3(HMCN1):c.3654T>C (p.His1218=)
NM_031935.3(HMCN1):c.375T>C (p.Ala125=)
NM_031935.3(HMCN1):c.3778+14C>T
NM_031935.3(HMCN1):c.3792G>A (p.Val1264=) rs2102052524
NM_031935.3(HMCN1):c.3810A>G (p.Pro1270=)
NM_031935.3(HMCN1):c.3864T>C (p.Cys1288=) rs374949796
NM_031935.3(HMCN1):c.3870A>G (p.Ala1290=)
NM_031935.3(HMCN1):c.3875-14A>G
NM_031935.3(HMCN1):c.3919T>C (p.Leu1307=)
NM_031935.3(HMCN1):c.3927C>T (p.Gly1309=)
NM_031935.3(HMCN1):c.4011C>T (p.Ile1337=)
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=) rs368008071
NM_031935.3(HMCN1):c.4070-10C>G
NM_031935.3(HMCN1):c.4070-14C>G
NM_031935.3(HMCN1):c.4070-19G>A
NM_031935.3(HMCN1):c.4077A>G (p.Pro1359=)
NM_031935.3(HMCN1):c.4089T>C (p.Asp1363=) rs1388895645
NM_031935.3(HMCN1):c.4107T>C (p.Asn1369=)
NM_031935.3(HMCN1):c.4110G>C (p.Val1370=)
NM_031935.3(HMCN1):c.4113G>A (p.Ser1371=)
NM_031935.3(HMCN1):c.4113G>C (p.Ser1371=)
NM_031935.3(HMCN1):c.4119G>A (p.Leu1373=)
NM_031935.3(HMCN1):c.4200+19A>G
NM_031935.3(HMCN1):c.4200+19dup
NM_031935.3(HMCN1):c.4201-9C>T
NM_031935.3(HMCN1):c.4224G>A (p.Gln1408=)
NM_031935.3(HMCN1):c.4246C>T (p.Leu1416=)
NM_031935.3(HMCN1):c.4344G>A (p.Val1448=)
NM_031935.3(HMCN1):c.4348+18T>A
NM_031935.3(HMCN1):c.4349-17C>T
NM_031935.3(HMCN1):c.4349-7G>T
NM_031935.3(HMCN1):c.4353A>G (p.Pro1451=)
NM_031935.3(HMCN1):c.4377C>T (p.Phe1459=) rs2102075523
NM_031935.3(HMCN1):c.438G>A (p.Arg146=)
NM_031935.3(HMCN1):c.4401C>T (p.Leu1467=)
NM_031935.3(HMCN1):c.4410C>T (p.Asp1470=)
NM_031935.3(HMCN1):c.4475+15T>C
NM_031935.3(HMCN1):c.4491C>T (p.Gly1497=)
NM_031935.3(HMCN1):c.4506A>G (p.Glu1502=) rs2102094572
NM_031935.3(HMCN1):c.4521A>G (p.Gly1507=)
NM_031935.3(HMCN1):c.453G>A (p.Arg151=)
NM_031935.3(HMCN1):c.4547G>A (p.Arg1516Gln)
NM_031935.3(HMCN1):c.4557C>T (p.Asp1519=)
NM_031935.3(HMCN1):c.456C>T (p.Leu152=)
NM_031935.3(HMCN1):c.4630+11T>C
NM_031935.3(HMCN1):c.4630+8C>A
NM_031935.3(HMCN1):c.4631-19G>A rs2102131358
NM_031935.3(HMCN1):c.4632T>A (p.Ile1544=)
NM_031935.3(HMCN1):c.4678T>C (p.Leu1560=)
NM_031935.3(HMCN1):c.4713A>G (p.Thr1571=)
NM_031935.3(HMCN1):c.4782A>T (p.Ala1594=)
NM_031935.3(HMCN1):c.4797A>G (p.Lys1599=) rs768356336
NM_031935.3(HMCN1):c.480C>T (p.Ile160=)
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
NM_031935.3(HMCN1):c.4839A>G (p.Ser1613=)
NM_031935.3(HMCN1):c.4909+14T>C
NM_031935.3(HMCN1):c.4909+15_4909+18dup
NM_031935.3(HMCN1):c.4910-10_4910-3dup
NM_031935.3(HMCN1):c.4938C>A (p.Ala1646=)
NM_031935.3(HMCN1):c.4941G>A (p.Thr1647=)
NM_031935.3(HMCN1):c.4947G>A (p.Leu1649=) rs2102135818
NM_031935.3(HMCN1):c.498+17C>T
NM_031935.3(HMCN1):c.498+18C>T
NM_031935.3(HMCN1):c.499-12T>G
NM_031935.3(HMCN1):c.499-15T>G
NM_031935.3(HMCN1):c.499-6T>A
NM_031935.3(HMCN1):c.4996G>T (p.Ala1666Ser)
NM_031935.3(HMCN1):c.5036G>A (p.Gly1679Asp)
NM_031935.3(HMCN1):c.5043T>C (p.Pro1681=) rs1406363098
NM_031935.3(HMCN1):c.5076T>C (p.Ala1692=)
NM_031935.3(HMCN1):c.5079T>C (p.Gly1693=)
NM_031935.3(HMCN1):c.5142T>A (p.Ala1714=)
NM_031935.3(HMCN1):c.5154A>G (p.Ala1718=)
NM_031935.3(HMCN1):c.5169C>A (p.Ile1723=)
NM_031935.3(HMCN1):c.5184T>C (p.Asp1728=)
NM_031935.3(HMCN1):c.5188T>C (p.Leu1730=)
NM_031935.3(HMCN1):c.5191+11A>T
NM_031935.3(HMCN1):c.5191+20C>T
NM_031935.3(HMCN1):c.5191+9G>A
NM_031935.3(HMCN1):c.5192-18A>G
NM_031935.3(HMCN1):c.5254C>T (p.Leu1752=)
NM_031935.3(HMCN1):c.5300+12G>C
NM_031935.3(HMCN1):c.5300+7G>A rs367562861
NM_031935.3(HMCN1):c.5301-12del
NM_031935.3(HMCN1):c.5301-14G>C
NM_031935.3(HMCN1):c.5301-20C>T
NM_031935.3(HMCN1):c.5364C>T (p.Arg1788=)
NM_031935.3(HMCN1):c.5433T>C (p.Ala1811=)
NM_031935.3(HMCN1):c.5466T>G (p.Val1822=)
NM_031935.3(HMCN1):c.5471-20del
NM_031935.3(HMCN1):c.5481A>G (p.Thr1827=)
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val) rs137853915
NM_031935.3(HMCN1):c.54T>C (p.Ser18=)
NM_031935.3(HMCN1):c.5514G>T (p.Val1838=)
NM_031935.3(HMCN1):c.5532C>T (p.Val1844=)
NM_031935.3(HMCN1):c.5535C>G (p.Ala1845=)
NM_031935.3(HMCN1):c.5619C>T (p.Asn1873=)
NM_031935.3(HMCN1):c.5625+19C>T
NM_031935.3(HMCN1):c.5626-8C>T
NM_031935.3(HMCN1):c.5673A>G (p.Glu1891=)
NM_031935.3(HMCN1):c.570C>T (p.Ala190=)
NM_031935.3(HMCN1):c.5724A>G (p.Gln1908=)
NM_031935.3(HMCN1):c.5749+17_5749+18insGA
NM_031935.3(HMCN1):c.5749+18C>A
NM_031935.3(HMCN1):c.5750-8T>A
NM_031935.3(HMCN1):c.576A>G (p.Thr192=)
NM_031935.3(HMCN1):c.5851+15G>A
NM_031935.3(HMCN1):c.5852-13C>T
NM_031935.3(HMCN1):c.5852-19T>A
NM_031935.3(HMCN1):c.5859A>G (p.Thr1953=)
NM_031935.3(HMCN1):c.58C>T (p.Leu20=)
NM_031935.3(HMCN1):c.5916A>G (p.Arg1972=)
NM_031935.3(HMCN1):c.5952A>C (p.Ser1984=)
NM_031935.3(HMCN1):c.598C>T (p.Leu200=)
NM_031935.3(HMCN1):c.6018G>A (p.Leu2006=)
NM_031935.3(HMCN1):c.6029-15A>G
NM_031935.3(HMCN1):c.6029-3dup
NM_031935.3(HMCN1):c.6177A>G (p.Leu2059=)
NM_031935.3(HMCN1):c.6180+12C>G
NM_031935.3(HMCN1):c.6180+7T>G rs1206270737
NM_031935.3(HMCN1):c.6181-17G>C
NM_031935.3(HMCN1):c.6181-18C>T
NM_031935.3(HMCN1):c.6189T>C (p.Ser2063=)
NM_031935.3(HMCN1):c.6207A>G (p.Ala2069=)
NM_031935.3(HMCN1):c.621+16G>A
NM_031935.3(HMCN1):c.6219A>G (p.Ala2073=) rs1167255884
NM_031935.3(HMCN1):c.622-11C>A
NM_031935.3(HMCN1):c.622-18del
NM_031935.3(HMCN1):c.622-6T>C
NM_031935.3(HMCN1):c.6240G>A (p.Arg2080=)
NM_031935.3(HMCN1):c.6304+20_6304+23del rs2102236015
NM_031935.3(HMCN1):c.6305-6A>C
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6345C>A (p.Val2115=)
NM_031935.3(HMCN1):c.636A>G (p.Val212=)
NM_031935.3(HMCN1):c.6384T>C (p.Asp2128=)
NM_031935.3(HMCN1):c.63T>A (p.Ala21=)
NM_031935.3(HMCN1):c.63T>C (p.Ala21=)
NM_031935.3(HMCN1):c.6481-5T>C
NM_031935.3(HMCN1):c.648A>G (p.Val216=)
NM_031935.3(HMCN1):c.6507T>C (p.Thr2169=)
NM_031935.3(HMCN1):c.6510T>C (p.Gly2170=)
NM_031935.3(HMCN1):c.6549T>C (p.Thr2183=) rs1571776522
NM_031935.3(HMCN1):c.6570C>T (p.Asn2190=)
NM_031935.3(HMCN1):c.6573T>C (p.Ile2191=)
NM_031935.3(HMCN1):c.6577+8T>A
NM_031935.3(HMCN1):c.6609T>C (p.Leu2203=)
NM_031935.3(HMCN1):c.6639C>T (p.Leu2213=)
NM_031935.3(HMCN1):c.6648G>C (p.Leu2216=)
NM_031935.3(HMCN1):c.6700+10C>T
NM_031935.3(HMCN1):c.6700+11A>G
NM_031935.3(HMCN1):c.6700+14C>A
NM_031935.3(HMCN1):c.6701-12A>G
NM_031935.3(HMCN1):c.6714G>T (p.Leu2238=)
NM_031935.3(HMCN1):c.6750G>A (p.Gly2250=)
NM_031935.3(HMCN1):c.6798C>T (p.Leu2266=)
NM_031935.3(HMCN1):c.6804A>G (p.Ser2268=)
NM_031935.3(HMCN1):c.6822T>C (p.Val2274=)
NM_031935.3(HMCN1):c.6828G>A (p.Gly2276=)
NM_031935.3(HMCN1):c.6843A>G (p.Glu2281=)
NM_031935.3(HMCN1):c.6849T>C (p.Asn2283=)
NM_031935.3(HMCN1):c.6863-19A>G
NM_031935.3(HMCN1):c.6891C>T (p.Ser2297=)
NM_031935.3(HMCN1):c.6930C>T (p.Ile2310=)
NM_031935.3(HMCN1):c.6939G>A (p.Glu2313=)
NM_031935.3(HMCN1):c.6951G>A (p.Gln2317=)
NM_031935.3(HMCN1):c.6969A>G (p.Thr2323=)
NM_031935.3(HMCN1):c.6975C>G (p.Thr2325=)
NM_031935.3(HMCN1):c.698T>C (p.Val233Ala)
NM_031935.3(HMCN1):c.7014A>T (p.Gly2338=)
NM_031935.3(HMCN1):c.7065A>G (p.Val2355=)
NM_031935.3(HMCN1):c.7077C>T (p.Gly2359=)
NM_031935.3(HMCN1):c.7083T>C (p.Tyr2361=)
NM_031935.3(HMCN1):c.7144+11A>G
NM_031935.3(HMCN1):c.7144+15G>C
NM_031935.3(HMCN1):c.7144+20A>G
NM_031935.3(HMCN1):c.7145-14A>G
NM_031935.3(HMCN1):c.7145-20T>G
NM_031935.3(HMCN1):c.7216T>C (p.Leu2406=)
NM_031935.3(HMCN1):c.7242C>T (p.Pro2414=)
NM_031935.3(HMCN1):c.7263C>T (p.Phe2421=)
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn)
NM_031935.3(HMCN1):c.7365T>C (p.Tyr2455=)
NM_031935.3(HMCN1):c.7389T>C (p.Ala2463=)
NM_031935.3(HMCN1):c.7407C>T (p.Ile2469=)
NM_031935.3(HMCN1):c.7426+13T>A
NM_031935.3(HMCN1):c.7426+8T>C
NM_031935.3(HMCN1):c.7427-11T>C
NM_031935.3(HMCN1):c.7427-4T>A
NM_031935.3(HMCN1):c.7464T>C (p.Asp2488=)
NM_031935.3(HMCN1):c.7488T>C (p.Ser2496=)
NM_031935.3(HMCN1):c.7513+19G>A
NM_031935.3(HMCN1):c.7513+1_7513+7dup rs758285800
NM_031935.3(HMCN1):c.7514-6_7514-5dup rs768974572
NM_031935.3(HMCN1):c.7521A>G (p.Pro2507=)
NM_031935.3(HMCN1):c.7536A>G (p.Thr2512=)
NM_031935.3(HMCN1):c.7560C>T (p.Leu2520=)
NM_031935.3(HMCN1):c.7568A>C (p.Asp2523Ala)
NM_031935.3(HMCN1):c.756T>C (p.Ser252=)
NM_031935.3(HMCN1):c.759G>A (p.Gly253=)
NM_031935.3(HMCN1):c.7617T>C (p.Asn2539=)
NM_031935.3(HMCN1):c.7626G>A (p.Val2542=)
NM_031935.3(HMCN1):c.7626G>T (p.Val2542=)
NM_031935.3(HMCN1):c.7644T>C (p.Tyr2548=)
NM_031935.3(HMCN1):c.7698T>C (p.Asn2566=)
NM_031935.3(HMCN1):c.774T>A (p.Ile258=)
NM_031935.3(HMCN1):c.7797T>G (p.Ala2599=)
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
NM_031935.3(HMCN1):c.783C>T (p.Arg261=)
NM_031935.3(HMCN1):c.7880-19A>G
NM_031935.3(HMCN1):c.7880-4A>C
NM_031935.3(HMCN1):c.7908A>C (p.Ala2636=)
NM_031935.3(HMCN1):c.794-17del
NM_031935.3(HMCN1):c.7947G>A (p.Thr2649=)
NM_031935.3(HMCN1):c.7968A>G (p.Ile2656Met)
NM_031935.3(HMCN1):c.7994-19T>A
NM_031935.3(HMCN1):c.8013A>G (p.Lys2671=)
NM_031935.3(HMCN1):c.8076G>A (p.Leu2692=)
NM_031935.3(HMCN1):c.8112C>G (p.Ala2704=)
NM_031935.3(HMCN1):c.8118C>T (p.Leu2706=)
NM_031935.3(HMCN1):c.813A>G (p.Gly271=)
NM_031935.3(HMCN1):c.8145T>C (p.Leu2715=)
NM_031935.3(HMCN1):c.8145T>G (p.Leu2715=)
NM_031935.3(HMCN1):c.8160T>C (p.His2720=)
NM_031935.3(HMCN1):c.8175G>A (p.Ala2725=)
NM_031935.3(HMCN1):c.8178T>C (p.Asn2726=)
NM_031935.3(HMCN1):c.8208A>G (p.Gln2736=)
NM_031935.3(HMCN1):c.8220C>G (p.Thr2740=) rs562987367
NM_031935.3(HMCN1):c.8220C>T (p.Thr2740=) rs562987367
NM_031935.3(HMCN1):c.8266T>C (p.Leu2756=)
NM_031935.3(HMCN1):c.8290+11T>C
NM_031935.3(HMCN1):c.8290+20G>A
NM_031935.3(HMCN1):c.8291-14C>G
NM_031935.3(HMCN1):c.8291-14C>T
NM_031935.3(HMCN1):c.8418T>C (p.Pro2806=)
NM_031935.3(HMCN1):c.8425C>T (p.Leu2809=)
NM_031935.3(HMCN1):c.8430A>G (p.Thr2810=)
NM_031935.3(HMCN1):c.8481G>A (p.Leu2827=)
NM_031935.3(HMCN1):c.8553G>T (p.Val2851=)
NM_031935.3(HMCN1):c.8599+14T>C
NM_031935.3(HMCN1):c.8670A>G (p.Ala2890=)
NM_031935.3(HMCN1):c.8671C>T (p.Leu2891=)
NM_031935.3(HMCN1):c.8691T>C (p.Ser2897=)
NM_031935.3(HMCN1):c.8703A>G (p.Ala2901=)
NM_031935.3(HMCN1):c.8760A>G (p.Lys2920=) rs2102380502
NM_031935.3(HMCN1):c.8766A>G (p.Leu2922=)
NM_031935.3(HMCN1):c.8784G>A (p.Leu2928=)
NM_031935.3(HMCN1):c.8787+20T>C
NM_031935.3(HMCN1):c.8788-17C>A
NM_031935.3(HMCN1):c.8788-5C>T
NM_031935.3(HMCN1):c.8865T>C (p.Tyr2955=)
NM_031935.3(HMCN1):c.8877T>C (p.Asn2959=)
NM_031935.3(HMCN1):c.8884+16C>T
NM_031935.3(HMCN1):c.8907T>A (p.Pro2969=)
NM_031935.3(HMCN1):c.900+11T>A rs2102455541
NM_031935.3(HMCN1):c.900+14A>G
NM_031935.3(HMCN1):c.900+5G>A
NM_031935.3(HMCN1):c.901-8A>G
NM_031935.3(HMCN1):c.9030T>C (p.Asn3010=)
NM_031935.3(HMCN1):c.9042G>A (p.Val3014=)
NM_031935.3(HMCN1):c.9046+12C>T
NM_031935.3(HMCN1):c.9047-12A>C
NM_031935.3(HMCN1):c.9047-14C>G
NM_031935.3(HMCN1):c.9047-5T>C
NM_031935.3(HMCN1):c.9048T>C (p.Gly3016=) rs2102400726
NM_031935.3(HMCN1):c.9060A>G (p.Leu3020=)
NM_031935.3(HMCN1):c.9087T>C (p.Asp3029=)
NM_031935.3(HMCN1):c.9126C>T (p.Gly3042=)
NM_031935.3(HMCN1):c.9160+16C>T
NM_031935.3(HMCN1):c.9161-10C>G
NM_031935.3(HMCN1):c.9161-19T>C
NM_031935.3(HMCN1):c.9161-5C>T
NM_031935.3(HMCN1):c.9186C>T (p.Asp3062=)
NM_031935.3(HMCN1):c.9249G>T (p.Ser3083=)
NM_031935.3(HMCN1):c.9252C>T (p.Asn3084=)
NM_031935.3(HMCN1):c.9292C>A (p.Arg3098=)
NM_031935.3(HMCN1):c.9306G>A (p.Glu3102=)
NM_031935.3(HMCN1):c.9363+10T>G
NM_031935.3(HMCN1):c.9363+16T>C
NM_031935.3(HMCN1):c.9363+17T>G
NM_031935.3(HMCN1):c.9363+20T>C
NM_031935.3(HMCN1):c.9363+7C>A
NM_031935.3(HMCN1):c.9363+7del
NM_031935.3(HMCN1):c.9364-15A>G
NM_031935.3(HMCN1):c.9414G>A (p.Arg3138=)
NM_031935.3(HMCN1):c.9445+11G>A
NM_031935.3(HMCN1):c.9445+16T>C
NM_031935.3(HMCN1):c.9446-10T>C
NM_031935.3(HMCN1):c.9446-11G>A
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=) rs886045677
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
NM_031935.3(HMCN1):c.948T>C (p.Thr316=)
NM_031935.3(HMCN1):c.9492G>A (p.Thr3164=)
NM_031935.3(HMCN1):c.9492G>T (p.Thr3164=)
NM_031935.3(HMCN1):c.9519T>C (p.Cys3173=)
NM_031935.3(HMCN1):c.9525C>T (p.Ala3175=)
NM_031935.3(HMCN1):c.9528T>C (p.Thr3176=)
NM_031935.3(HMCN1):c.9537A>G (p.Pro3179=)
NM_031935.3(HMCN1):c.9577+10C>T
NM_031935.3(HMCN1):c.9577+9A>G
NM_031935.3(HMCN1):c.9578-6C>A rs2102405312
NM_031935.3(HMCN1):c.9639G>T (p.Arg3213=)
NM_031935.3(HMCN1):c.9660A>G (p.Gly3220=)
NM_031935.3(HMCN1):c.9672T>C (p.Cys3224=)
NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=)
NM_031935.3(HMCN1):c.9728-4A>G
NM_031935.3(HMCN1):c.9765T>C (p.Asp3255=)
NM_031935.3(HMCN1):c.9774C>T (p.Val3258=)
NM_031935.3(HMCN1):c.978G>A (p.Lys326=)
NM_031935.3(HMCN1):c.9837A>G (p.Gln3279=)
NM_031935.3(HMCN1):c.9887+10A>G
NM_031935.3(HMCN1):c.9887+9A>T
NM_031935.3(HMCN1):c.9888-13A>G rs2102416527
NM_031935.3(HMCN1):c.9888-15T>C
NM_031935.3(HMCN1):c.9888-4G>A
NM_031935.3(HMCN1):c.9894T>C (p.Ser3298=)

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