ClinVar Miner

List of variants in gene HMCN1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 1742
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HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln) rs147189545 0.00152
NM_031935.3(HMCN1):c.-151C>A rs143020055 0.00118
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser) rs144994573 0.00096
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) rs146671871 0.00093
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro) rs138290901 0.00076
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) rs121434382 0.00070
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala) rs201865736 0.00063
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_031935.3(HMCN1):c.*418A>G rs756210638 0.00060
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser) rs138178673 0.00059
NM_031935.3(HMCN1):c.*588T>C rs1029168553 0.00058
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00050
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=) rs146430539 0.00047
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) rs145398864 0.00046
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe) rs137903471 0.00045
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.5923A>G (p.Ile1975Val) rs145889775 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.2157C>T (p.Thr719=) rs141371119 0.00036
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) rs148265876 0.00036
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) rs182468717 0.00035
NM_031935.3(HMCN1):c.*669A>G rs577673255 0.00034
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661 0.00033
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) rs145595000 0.00031
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.959G>A (p.Arg320Gln) rs140296295 0.00030
NM_031935.3(HMCN1):c.11561+6G>A rs370284965 0.00029
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.*92A>G rs558737295 0.00026
NM_031935.3(HMCN1):c.4564C>T (p.Arg1522Cys) rs143641249 0.00025
NM_031935.3(HMCN1):c.1021+8T>C rs199547255 0.00024
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.26C>T (p.Thr9Ile) rs150931652 0.00023
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met) rs201379680 0.00023
NM_031935.3(HMCN1):c.10633C>T (p.Pro3545Ser) rs142038459 0.00022
NM_031935.3(HMCN1):c.12510G>C (p.Arg4170Ser) rs147073283 0.00021
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val) rs141213545 0.00021
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His) rs148097981 0.00021
NM_031935.3(HMCN1):c.15419C>T (p.Ala5140Val) rs143555344 0.00021
NM_031935.3(HMCN1):c.15440-9C>T rs374670687 0.00019
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala) rs138440972 0.00018
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) rs376910631 0.00017
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) rs199920138 0.00017
NM_031935.3(HMCN1):c.*872C>T rs746238036 0.00016
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys) rs149594098 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.1886T>C (p.Val629Ala) rs769474927 0.00016
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn) rs139899015 0.00016
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile) rs200642597 0.00015
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val) rs781513060 0.00015
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met) rs140990615 0.00015
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys) rs199574143 0.00014
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu) rs199984579 0.00014
NM_031935.3(HMCN1):c.14555C>G (p.Pro4852Arg) rs374597394 0.00014
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His) rs41317505 0.00014
NM_031935.3(HMCN1):c.8348A>G (p.Asn2783Ser) rs139211435 0.00014
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=) rs147891898 0.00013
NM_031935.3(HMCN1):c.*327C>A rs541810746 0.00011
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr) rs145955451 0.00011
NM_031935.3(HMCN1):c.15439+14dup rs759693498 0.00011
NM_031935.3(HMCN1):c.16657C>T (p.Arg5553Trp) rs200641304 0.00011
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) rs757430423 0.00011
NM_031935.3(HMCN1):c.7859G>A (p.Arg2620Gln) rs150883776 0.00011
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln) rs202206115 0.00011
NM_031935.3(HMCN1):c.*18A>G rs202061344 0.00010
NM_031935.3(HMCN1):c.11808A>T (p.Arg3936Ser) rs144330600 0.00010
NM_031935.3(HMCN1):c.15967C>A (p.Pro5323Thr) rs540719952 0.00010
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) rs372803002 0.00010
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=) rs181852740 0.00010
NM_031935.3(HMCN1):c.7492A>T (p.Thr2498Ser) rs376556463 0.00010
NM_031935.3(HMCN1):c.*884C>G rs753718697 0.00009
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=) rs41317461 0.00009
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser) rs77460954 0.00009
NM_031935.3(HMCN1):c.14926C>T (p.Arg4976Trp) rs760875305 0.00009
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser) rs143393655 0.00009
NM_031935.3(HMCN1):c.1939G>A (p.Val647Ile) rs146964438 0.00009
NM_031935.3(HMCN1):c.3354G>T (p.Gln1118His) rs141081235 0.00009
NM_031935.3(HMCN1):c.4546C>T (p.Arg1516Trp) rs764000303 0.00009
NM_031935.3(HMCN1):c.4850C>T (p.Thr1617Met) rs757566490 0.00009
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) rs199945360 0.00009
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln) rs116409560 0.00009
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile) rs376810057 0.00009
NM_031935.3(HMCN1):c.7513+4T>C rs369311506 0.00009
NM_031935.3(HMCN1):c.900+4C>T rs764319560 0.00009
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) rs752692827 0.00008
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962 0.00008
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr) rs754660196 0.00008
NM_031935.3(HMCN1):c.7153A>G (p.Ser2385Gly) rs138727762 0.00008
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) rs146636123 0.00007
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp) rs371095992 0.00007
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly) rs776783939 0.00007
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile) rs769706639 0.00007
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) rs370518238 0.00007
NM_031935.3(HMCN1):c.4178T>C (p.Met1393Thr) rs779269443 0.00007
NM_031935.3(HMCN1):c.5572A>T (p.Ile1858Phe) rs200642806 0.00007
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) rs41317477 0.00007
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala) rs201878929 0.00007
NM_031935.3(HMCN1):c.*689G>A rs978833235 0.00006
NM_031935.3(HMCN1):c.12662A>G (p.Tyr4221Cys) rs377433759 0.00006
NM_031935.3(HMCN1):c.13230+9C>T rs573598298 0.00006
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr) rs778062119 0.00006
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) rs747405345 0.00006
NM_031935.3(HMCN1):c.13582+11T>C rs764698262 0.00006
NM_031935.3(HMCN1):c.13909A>G (p.Ile4637Val) rs752516803 0.00006
NM_031935.3(HMCN1):c.15077G>A (p.Arg5026Gln) rs146392053 0.00006
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg) rs375692254 0.00006
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn) rs200601125 0.00006
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) rs371177035 0.00006
NM_031935.3(HMCN1):c.4405C>T (p.Arg1469Cys) rs140363573 0.00006
NM_031935.3(HMCN1):c.4940C>T (p.Thr1647Met) rs775412545 0.00006
NM_031935.3(HMCN1):c.6308C>T (p.Pro2103Leu) rs768441829 0.00006
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=) rs758248236 0.00006
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) rs376132541 0.00006
NM_031935.3(HMCN1):c.7598G>A (p.Arg2533His) rs199987140 0.00006
NM_031935.3(HMCN1):c.12220A>G (p.Asn4074Asp) rs200395622 0.00005
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=) rs150757082 0.00005
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) rs146247104 0.00005
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg) rs770537331 0.00005
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met) rs553018813 0.00005
NM_031935.3(HMCN1):c.16894G>A (p.Ala5632Thr) rs372434876 0.00005
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) rs370251638 0.00005
NM_031935.3(HMCN1):c.4348+11C>T rs755881880 0.00005
NM_031935.3(HMCN1):c.4360A>G (p.Ile1454Val) rs142035526 0.00005
NM_031935.3(HMCN1):c.4468G>A (p.Asp1490Asn) rs781177769 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.6641T>C (p.Ile2214Thr) rs907235295 0.00005
NM_031935.3(HMCN1):c.6699A>G (p.Lys2233=) rs200609012 0.00005
NM_031935.3(HMCN1):c.6744A>T (p.Leu2248Phe) rs765779034 0.00005
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile) rs147722917 0.00005
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=) rs183725854 0.00005
NM_031935.3(HMCN1):c.-87T>C rs886045658 0.00004
NM_031935.3(HMCN1):c.10033A>G (p.Asn3345Asp) rs201026760 0.00004
NM_031935.3(HMCN1):c.10280A>G (p.Asn3427Ser) rs903500513 0.00004
NM_031935.3(HMCN1):c.10380T>G (p.Asp3460Glu) rs141065715 0.00004
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) rs367750334 0.00004
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln) rs565996021 0.00004
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val) rs146177894 0.00004
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956 0.00004
NM_031935.3(HMCN1):c.14185G>A (p.Asp4729Asn) rs751950564 0.00004
NM_031935.3(HMCN1):c.14335C>T (p.Arg4779Trp) rs144825762 0.00004
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=) rs764895427 0.00004
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) rs754953588 0.00004
NM_031935.3(HMCN1):c.1525C>T (p.Arg509Trp) rs531770127 0.00004
NM_031935.3(HMCN1):c.15689-7T>C rs370901552 0.00004
NM_031935.3(HMCN1):c.1755T>A (p.Asp585Glu) rs371997839 0.00004
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro) rs779907065 0.00004
NM_031935.3(HMCN1):c.2341G>A (p.Ala781Thr) rs373420508 0.00004
NM_031935.3(HMCN1):c.3048+12A>G rs759007264 0.00004
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe) rs369263478 0.00004
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys) rs575710648 0.00004
NM_031935.3(HMCN1):c.4156G>A (p.Gly1386Ser) rs757548486 0.00004
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) rs201953947 0.00004
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) rs140480677 0.00004
NM_031935.3(HMCN1):c.5120G>A (p.Arg1707Gln) rs367984117 0.00004
NM_031935.3(HMCN1):c.6181-3T>C rs971328726 0.00004
NM_031935.3(HMCN1):c.6197G>A (p.Arg2066Gln) rs555321850 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.7160T>C (p.Ile2387Thr) rs536019281 0.00004
NM_031935.3(HMCN1):c.7676A>G (p.Lys2559Arg) rs1009060988 0.00004
NM_031935.3(HMCN1):c.769A>G (p.Met257Val) rs140971270 0.00004
NM_031935.3(HMCN1):c.8341G>A (p.Gly2781Ser) rs374112138 0.00004
NM_031935.3(HMCN1):c.8485+14C>T rs201345841 0.00004
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) rs142475663 0.00004
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=) rs745727347 0.00004
NM_031935.3(HMCN1):c.9446-10T>A rs753374697 0.00004
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp) rs1404028877 0.00004
NM_031935.3(HMCN1):c.9841C>T (p.Leu3281Phe) rs780010955 0.00004
NM_031935.3(HMCN1):c.9887+4T>G rs746668370 0.00004
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met) rs367681878 0.00004
NM_031935.3(HMCN1):c.9973G>A (p.Ala3325Thr) rs543118353 0.00004
NM_031935.3(HMCN1):c.-121A>G rs1413424553 0.00003
NM_031935.3(HMCN1):c.-156G>A rs886045657 0.00003
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) rs752255369 0.00003
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) rs773110395 0.00003
NM_031935.3(HMCN1):c.11277A>G (p.Arg3759=) rs369293880 0.00003
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu) rs766042341 0.00003
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=) rs886045684 0.00003
NM_031935.3(HMCN1):c.13190G>A (p.Arg4397Gln) rs368815116 0.00003
NM_031935.3(HMCN1):c.13214C>T (p.Ala4405Val) rs1306049718 0.00003
NM_031935.3(HMCN1):c.1355C>T (p.Ser452Phe) rs373157669 0.00003
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) rs373876634 0.00003
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) rs766387783 0.00003
NM_031935.3(HMCN1):c.2098+12C>A rs776336811 0.00003
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe) rs754608294 0.00003
NM_031935.3(HMCN1):c.2819G>A (p.Arg940His) rs112809015 0.00003
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) rs373402377 0.00003
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His) rs527332989 0.00003
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=) rs566865273 0.00003
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln) rs777994384 0.00003
NM_031935.3(HMCN1):c.4910-14A>G rs767012387 0.00003
NM_031935.3(HMCN1):c.5530G>A (p.Val1844Ile) rs748993057 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.6358G>A (p.Ala2120Thr) rs149209524 0.00003
NM_031935.3(HMCN1):c.6676C>A (p.Pro2226Thr) rs201966093 0.00003
NM_031935.3(HMCN1):c.8139+7C>A rs201246528 0.00003
NM_031935.3(HMCN1):c.11378G>A (p.Arg3793His) rs768205453 0.00002
NM_031935.3(HMCN1):c.11405-3T>C rs771393516 0.00002
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala) rs537694143 0.00002
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.14315C>T (p.Thr4772Met) rs762054878 0.00002
NM_031935.3(HMCN1):c.14465G>A (p.Ser4822Asn) rs770204982 0.00002
NM_031935.3(HMCN1):c.15167T>C (p.Val5056Ala) rs199927269 0.00002
NM_031935.3(HMCN1):c.15273G>C (p.Gln5091His) rs369122627 0.00002
NM_031935.3(HMCN1):c.15320-7C>T rs745639179 0.00002
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln) rs370909774 0.00002
NM_031935.3(HMCN1):c.15505G>C (p.Gly5169Arg) rs750614060 0.00002
NM_031935.3(HMCN1):c.15575-1G>A rs200351804 0.00002
NM_031935.3(HMCN1):c.15743C>T (p.Thr5248Ile) rs199563247 0.00002
NM_031935.3(HMCN1):c.15914G>A (p.Arg5305Gln) rs566532561 0.00002
NM_031935.3(HMCN1):c.16295-9C>T rs760760319 0.00002
NM_031935.3(HMCN1):c.1837A>G (p.Lys613Glu) rs376173618 0.00002
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=) rs766591582 0.00002
NM_031935.3(HMCN1):c.2162T>C (p.Met721Thr) rs144270518 0.00002
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe) rs367914815 0.00002
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln) rs144772706 0.00002
NM_031935.3(HMCN1):c.3441G>T (p.Met1147Ile) rs201732691 0.00002
NM_031935.3(HMCN1):c.3731C>T (p.Thr1244Ile) rs764649227 0.00002
NM_031935.3(HMCN1):c.3811T>C (p.Tyr1271His) rs188408556 0.00002
NM_031935.3(HMCN1):c.3992A>G (p.Tyr1331Cys) rs376178458 0.00002
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=) rs146365142 0.00002
NM_031935.3(HMCN1):c.5741A>G (p.His1914Arg) rs563890233 0.00002
NM_031935.3(HMCN1):c.5891C>T (p.Ser1964Phe) rs768770768 0.00002
NM_031935.3(HMCN1):c.6480+4A>T rs376146048 0.00002
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys) rs779454634 0.00002
NM_031935.3(HMCN1):c.7313-5T>G rs762447090 0.00002
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) rs200327975 0.00002
NM_031935.3(HMCN1):c.824A>C (p.His275Pro) rs368798833 0.00002
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=) rs776416150 0.00002
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) rs749154171 0.00002
NM_031935.3(HMCN1):c.8650G>A (p.Val2884Met) rs919412657 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.8777G>A (p.Arg2926Gln) rs377760099 0.00002
NM_031935.3(HMCN1):c.8813T>C (p.Ile2938Thr) rs748510163 0.00002
NM_031935.3(HMCN1):c.8965T>C (p.Ser2989Pro) rs764586326 0.00002
NM_031935.3(HMCN1):c.9047-12A>G rs767424930 0.00002
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=) rs573229310 0.00002
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val) rs779147330 0.00002
NM_031935.3(HMCN1):c.*234G>A rs564259144 0.00001
NM_031935.3(HMCN1):c.*902G>C rs886045698 0.00001
NM_031935.3(HMCN1):c.10073C>T (p.Thr3358Ile) rs201310252 0.00001
NM_031935.3(HMCN1):c.10230G>A (p.Val3410=) rs747892157 0.00001
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr) rs751358209 0.00001
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr) rs746480984 0.00001
NM_031935.3(HMCN1):c.10997C>G (p.Pro3666Arg) rs757296431 0.00001
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln) rs745313929 0.00001
NM_031935.3(HMCN1):c.1115T>C (p.Leu372Pro) rs1667101291 0.00001
NM_031935.3(HMCN1):c.11317G>A (p.Ala3773Thr) rs1268584037 0.00001
NM_031935.3(HMCN1):c.11377C>T (p.Arg3793Cys) rs147547755 0.00001
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile) rs569383096 0.00001
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg) rs777770411 0.00001
NM_031935.3(HMCN1):c.11689C>T (p.Pro3897Ser) rs979127566 0.00001
NM_031935.3(HMCN1):c.11933G>A (p.Arg3978Gln) rs756043609 0.00001
NM_031935.3(HMCN1):c.11935C>T (p.His3979Tyr) rs973079674 0.00001
NM_031935.3(HMCN1):c.1207C>G (p.Leu403Val) rs781359511 0.00001
NM_031935.3(HMCN1):c.12148C>T (p.Arg4050Ter) rs767655388 0.00001
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=) rs752738056 0.00001
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=) rs886045682 0.00001
NM_031935.3(HMCN1):c.12290C>T (p.Thr4097Met) rs370916387 0.00001
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=) rs1160639880 0.00001
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys) rs1400175925 0.00001
NM_031935.3(HMCN1):c.1285+7C>T rs753115471 0.00001
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) rs200984902 0.00001
NM_031935.3(HMCN1):c.13001T>C (p.Val4334Ala) rs750135200 0.00001
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met) rs563362752 0.00001
NM_031935.3(HMCN1):c.13240G>A (p.Ala4414Thr) rs969015389 0.00001
NM_031935.3(HMCN1):c.13333G>A (p.Glu4445Lys) rs1192219867 0.00001
NM_031935.3(HMCN1):c.13348G>A (p.Val4450Ile) rs1649627673 0.00001
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=) rs763275429 0.00001
NM_031935.3(HMCN1):c.13660C>T (p.Arg4554Cys) rs753805678 0.00001
NM_031935.3(HMCN1):c.13874G>A (p.Cys4625Tyr) rs1649718920 0.00001
NM_031935.3(HMCN1):c.13925-10G>C rs755762622 0.00001
NM_031935.3(HMCN1):c.14150G>A (p.Gly4717Glu) rs1207896972 0.00001
NM_031935.3(HMCN1):c.14229T>A (p.Asp4743Glu) rs746810106 0.00001
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp) rs768284133 0.00001
NM_031935.3(HMCN1):c.14591A>G (p.Asn4864Ser) rs1158025720 0.00001
NM_031935.3(HMCN1):c.14635G>A (p.Val4879Ile) rs747136780 0.00001
NM_031935.3(HMCN1):c.14718A>C (p.Arg4906Ser) rs1365182044 0.00001
NM_031935.3(HMCN1):c.14896+8T>A rs767566761 0.00001
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp) rs536701183 0.00001
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val) rs767070754 0.00001
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn) rs886045689 0.00001
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser) rs777284205 0.00001
NM_031935.3(HMCN1):c.154A>G (p.Met52Val) rs778944028 0.00001
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val) rs748823261 0.00001
NM_031935.3(HMCN1):c.15755A>G (p.Tyr5252Cys) rs753251897 0.00001
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=) rs373461955 0.00001
NM_031935.3(HMCN1):c.16048G>A (p.Asp5350Asn) rs770590855 0.00001
NM_031935.3(HMCN1):c.1624C>G (p.Leu542Val) rs982976924 0.00001
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=) rs761197473 0.00001
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln) rs748032823 0.00001
NM_031935.3(HMCN1):c.1683A>C (p.Arg561Ser) rs1278087925 0.00001
NM_031935.3(HMCN1):c.2096T>C (p.Ile699Thr) rs746494097 0.00001
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp) rs1046849931 0.00001
NM_031935.3(HMCN1):c.2276T>G (p.Ile759Ser) rs1005373074 0.00001
NM_031935.3(HMCN1):c.2575G>T (p.Ala859Ser) rs1274918563 0.00001
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg) rs368702685 0.00001
NM_031935.3(HMCN1):c.2670A>G (p.Pro890=) rs201113609 0.00001
NM_031935.3(HMCN1):c.2734A>G (p.Thr912Ala) rs763378460 0.00001
NM_031935.3(HMCN1):c.302A>G (p.Lys101Arg) rs774524448 0.00001
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser) rs1418379831 0.00001
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met) rs762631011 0.00001
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=) rs886045668 0.00001
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu) rs780422973 0.00001
NM_031935.3(HMCN1):c.4200+6T>C rs759273685 0.00001
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=) rs886045670 0.00001
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) rs762354666 0.00001
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser) rs1332606772 0.00001
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His) rs886045671 0.00001
NM_031935.3(HMCN1):c.4728G>A (p.Met1576Ile) rs766255925 0.00001
NM_031935.3(HMCN1):c.4865A>G (p.Asn1622Ser) rs755200248 0.00001
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile) rs766434071 0.00001
NM_031935.3(HMCN1):c.5362C>T (p.Arg1788Cys) rs773084610 0.00001
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=) rs769758485 0.00001
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys) rs149920975 0.00001
NM_031935.3(HMCN1):c.5885C>T (p.Ser1962Leu) rs367776519 0.00001
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=) rs777752487 0.00001
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=) rs368334157 0.00001
NM_031935.3(HMCN1):c.6295C>T (p.Arg2099Ter) rs483352758 0.00001
NM_031935.3(HMCN1):c.6421G>A (p.Gly2141Ser) rs964866048 0.00001
NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys) rs1656752926 0.00001
NM_031935.3(HMCN1):c.6863-3C>T rs770154240 0.00001
NM_031935.3(HMCN1):c.6941G>A (p.Cys2314Tyr) rs1657250072 0.00001
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=) rs767597600 0.00001
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val) rs1167111929 0.00001
NM_031935.3(HMCN1):c.7163G>A (p.Gly2388Glu) rs550906893 0.00001
NM_031935.3(HMCN1):c.7426+15T>A rs1198026867 0.00001
NM_031935.3(HMCN1):c.7445G>A (p.Gly2482Asp) rs372591014 0.00001
NM_031935.3(HMCN1):c.7477G>C (p.Glu2493Gln) rs771719125 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.7720G>A (p.Ala2574Thr) rs201302454 0.00001
NM_031935.3(HMCN1):c.793+9T>C rs375021941 0.00001
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg) rs1172387552 0.00001
NM_031935.3(HMCN1):c.7978G>A (p.Glu2660Lys) rs985818530 0.00001
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala) rs577435610 0.00001
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe) rs201586866 0.00001
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile) rs376875658 0.00001
NM_031935.3(HMCN1):c.8631T>A (p.Asp2877Glu) rs913131873 0.00001
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=) rs1221324876 0.00001
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr) rs886045662 0.00001
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met) rs556443296 0.00001
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) rs574155244 0.00001
NM_031935.3(HMCN1):c.9116A>G (p.Asn3039Ser) rs1030947907 0.00001
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys) rs747230633 0.00001
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His) rs375407833 0.00001
NM_031935.3(HMCN1):c.9170G>A (p.Ser3057Asn) rs754932740 0.00001
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) rs886045676 0.00001
NM_031935.3(HMCN1):c.9452C>A (p.Pro3151His) rs779141963 0.00001
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser) rs146969586 0.00001
GRCh37/hg19 1q31.1(chr1:185892764-186021430)x1
NC_000001.10:g.(?_186022937)_(186023138_?)del
NC_000001.10:g.(?_186105780)_(186136094_?)dup
NC_000001.10:g.(?_186147528)_(186159010_?)del
NM_031935.3(HMCN1):c.*223A>G rs1653630018
NM_031935.3(HMCN1):c.*396T>G rs886045694
NM_031935.3(HMCN1):c.*656TAA[3] rs886045695
NM_031935.3(HMCN1):c.*927T>C rs886045699
NM_031935.3(HMCN1):c.*982T>G rs886045700
NM_031935.3(HMCN1):c.-13dup rs752517345
NM_031935.3(HMCN1):c.-25dup rs545770705
NM_031935.3(HMCN1):c.-40T>C rs886045659
NM_031935.3(HMCN1):c.10006G>A (p.Val3336Ile)
NM_031935.3(HMCN1):c.10010A>G (p.Tyr3337Cys)
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
NM_031935.3(HMCN1):c.10069G>A (p.Asp3357Asn)
NM_031935.3(HMCN1):c.10085T>C (p.Ile3362Thr)
NM_031935.3(HMCN1):c.10103G>C (p.Gly3368Ala)
NM_031935.3(HMCN1):c.10106C>T (p.Thr3369Met)
NM_031935.3(HMCN1):c.10150C>A (p.Pro3384Thr)
NM_031935.3(HMCN1):c.10153C>G (p.Leu3385Val)
NM_031935.3(HMCN1):c.10165A>G (p.Ile3389Val)
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) rs369620574
NM_031935.3(HMCN1):c.10184G>C (p.Gly3395Ala)
NM_031935.3(HMCN1):c.10187A>C (p.Gln3396Pro) rs2102418182
NM_031935.3(HMCN1):c.10201G>C (p.Val3401Leu)
NM_031935.3(HMCN1):c.10213G>T (p.Val3405Leu)
NM_031935.3(HMCN1):c.10225G>A (p.Ala3409Thr)
NM_031935.3(HMCN1):c.10234A>G (p.Thr3412Ala)
NM_031935.3(HMCN1):c.10276T>C (p.Tyr3426His)
NM_031935.3(HMCN1):c.10279A>G (p.Asn3427Asp)
NM_031935.3(HMCN1):c.10288G>C (p.Val3430Leu)
NM_031935.3(HMCN1):c.10342C>T (p.Leu3448Phe)
NM_031935.3(HMCN1):c.10348G>A (p.Gly3450Ser)
NM_031935.3(HMCN1):c.10349G>A (p.Gly3450Asp)
NM_031935.3(HMCN1):c.10358C>T (p.Thr3453Ile)
NM_031935.3(HMCN1):c.10361C>T (p.Ser3454Phe)
NM_031935.3(HMCN1):c.10363A>C (p.Met3455Leu)
NM_031935.3(HMCN1):c.10363A>G (p.Met3455Val) rs766461506
NM_031935.3(HMCN1):c.10376C>G (p.Thr3459Ser)
NM_031935.3(HMCN1):c.1037T>C (p.Val346Ala)
NM_031935.3(HMCN1):c.10394C>T (p.Pro3465Leu)
NM_031935.3(HMCN1):c.10397G>T (p.Ser3466Ile)
NM_031935.3(HMCN1):c.10399A>T (p.Met3467Leu)
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly) rs201041141
NM_031935.3(HMCN1):c.10442A>G (p.His3481Arg)
NM_031935.3(HMCN1):c.10453A>G (p.Ser3485Gly)
NM_031935.3(HMCN1):c.10463G>T (p.Gly3488Val)
NM_031935.3(HMCN1):c.10464A>T (p.Gly3488=) rs2102422991
NM_031935.3(HMCN1):c.10467G>T (p.Met3489Ile)
NM_031935.3(HMCN1):c.10477C>G (p.Leu3493Val)
NM_031935.3(HMCN1):c.10502C>T (p.Ser3501Leu)
NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg)
NM_031935.3(HMCN1):c.10552C>A (p.His3518Asn)
NM_031935.3(HMCN1):c.10570C>A (p.Leu3524Ile)
NM_031935.3(HMCN1):c.10573G>A (p.Glu3525Lys)
NM_031935.3(HMCN1):c.10622T>C (p.Ile3541Thr)
NM_031935.3(HMCN1):c.10634del (p.Pro3545fs) rs2102444389
NM_031935.3(HMCN1):c.10654G>A (p.Ala3552Thr)
NM_031935.3(HMCN1):c.10665C>T (p.Ile3555=)
NM_031935.3(HMCN1):c.10682C>T (p.Thr3561Ile)
NM_031935.3(HMCN1):c.10687A>G (p.Met3563Val)
NM_031935.3(HMCN1):c.10700G>A (p.Arg3567Gln)
NM_031935.3(HMCN1):c.10715C>T (p.Thr3572Met)
NM_031935.3(HMCN1):c.10718A>T (p.Asp3573Val)
NM_031935.3(HMCN1):c.10723G>A (p.Val3575Met)
NM_031935.3(HMCN1):c.10729A>T (p.Thr3577Ser)
NM_031935.3(HMCN1):c.10739G>A (p.Gly3580Glu)
NM_031935.3(HMCN1):c.10742G>A (p.Gly3581Glu)
NM_031935.3(HMCN1):c.10746G>C (p.Glu3582Asp)
NM_031935.3(HMCN1):c.10747G>A (p.Val3583Ile)
NM_031935.3(HMCN1):c.10754G>A (p.Arg3585Gln)
NM_031935.3(HMCN1):c.10754G>C (p.Arg3585Pro)
NM_031935.3(HMCN1):c.10757T>G (p.Ile3586Ser)
NM_031935.3(HMCN1):c.10816G>A (p.Gly3606Arg)
NM_031935.3(HMCN1):c.1081CTT[1] (p.Leu362del)
NM_031935.3(HMCN1):c.10830G>C (p.Lys3610Asn)
NM_031935.3(HMCN1):c.10842G>A (p.Val3614=)
NM_031935.3(HMCN1):c.10844G>A (p.Arg3615Lys)
NM_031935.3(HMCN1):c.10845A>G (p.Arg3615=)
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
NM_031935.3(HMCN1):c.10868C>G (p.Ala3623Gly)
NM_031935.3(HMCN1):c.10874C>G (p.Thr3625Ser)
NM_031935.3(HMCN1):c.10885C>T (p.Arg3629Trp)
NM_031935.3(HMCN1):c.10886G>A (p.Arg3629Gln)
NM_031935.3(HMCN1):c.10897G>A (p.Val3633Met)
NM_031935.3(HMCN1):c.10904G>A (p.Arg3635Gln)
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser)
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu) rs886045679
NM_031935.3(HMCN1):c.10948C>T (p.Pro3650Ser)
NM_031935.3(HMCN1):c.10949C>T (p.Pro3650Leu)
NM_031935.3(HMCN1):c.10975G>A (p.Gly3659Arg)
NM_031935.3(HMCN1):c.10976G>C (p.Gly3659Ala)
NM_031935.3(HMCN1):c.10981C>T (p.Arg3661Trp)
NM_031935.3(HMCN1):c.10982G>A (p.Arg3661Gln)
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) rs141818688
NM_031935.3(HMCN1):c.10982G>T (p.Arg3661Leu)
NM_031935.3(HMCN1):c.10989+3A>C
NM_031935.3(HMCN1):c.10989+4A>C
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
NM_031935.3(HMCN1):c.11000G>A (p.Arg3667Gln)
NM_031935.3(HMCN1):c.11006G>T (p.Arg3669Leu)
NM_031935.3(HMCN1):c.11012T>C (p.Leu3671Pro)
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala) rs145492995
NM_031935.3(HMCN1):c.11059A>G (p.Thr3687Ala)
NM_031935.3(HMCN1):c.11060C>G (p.Thr3687Arg)
NM_031935.3(HMCN1):c.1106G>C (p.Gly369Ala)
NM_031935.3(HMCN1):c.11080G>T (p.Ala3694Ser)
NM_031935.3(HMCN1):c.11089A>G (p.Ile3697Val)
NM_031935.3(HMCN1):c.11125G>A (p.Val3709Ile) rs2102469102
NM_031935.3(HMCN1):c.11131+10G>T
NM_031935.3(HMCN1):c.11153G>T (p.Gly3718Val)
NM_031935.3(HMCN1):c.11158C>A (p.Gln3720Lys)
NM_031935.3(HMCN1):c.11168T>C (p.Val3723Ala)
NM_031935.3(HMCN1):c.11174T>C (p.Leu3725Pro)
NM_031935.3(HMCN1):c.11180A>G (p.Asn3727Ser)
NM_031935.3(HMCN1):c.11191G>T (p.Val3731Leu) rs773110395
NM_031935.3(HMCN1):c.11199A>C (p.Glu3733Asp)
NM_031935.3(HMCN1):c.11212G>A (p.Gly3738Ser)
NM_031935.3(HMCN1):c.1121C>T (p.Thr374Ile)
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr) rs886045680
NM_031935.3(HMCN1):c.11245G>A (p.Asp3749Asn)
NM_031935.3(HMCN1):c.11255T>G (p.Val3752Gly)
NM_031935.3(HMCN1):c.11264G>A (p.Gly3755Glu)
NM_031935.3(HMCN1):c.11267A>G (p.Asn3756Ser)
NM_031935.3(HMCN1):c.11306A>G (p.His3769Arg)
NM_031935.3(HMCN1):c.11307T>A (p.His3769Gln)
NM_031935.3(HMCN1):c.11318C>T (p.Ala3773Val)
NM_031935.3(HMCN1):c.1132A>G (p.Lys378Glu)
NM_031935.3(HMCN1):c.11333C>A (p.Thr3778Asn)
NM_031935.3(HMCN1):c.11338C>T (p.Arg3780Trp)
NM_031935.3(HMCN1):c.11342A>G (p.Tyr3781Cys)
NM_031935.3(HMCN1):c.11356A>T (p.Thr3786Ser)
NM_031935.3(HMCN1):c.11362G>A (p.Ala3788Thr) rs777989791
NM_031935.3(HMCN1):c.11400C>G (p.Val3800=)
NM_031935.3(HMCN1):c.11402A>T (p.His3801Leu)
NM_031935.3(HMCN1):c.11404+11G>T rs187354891
NM_031935.3(HMCN1):c.11404+9C>T
NM_031935.3(HMCN1):c.11437A>G (p.Met3813Val)
NM_031935.3(HMCN1):c.11446A>C (p.Ile3816Leu)
NM_031935.3(HMCN1):c.11447T>A (p.Ile3816Lys) rs748176085
NM_031935.3(HMCN1):c.1144C>T (p.His382Tyr) rs753588061
NM_031935.3(HMCN1):c.11450T>G (p.Val3817Gly)
NM_031935.3(HMCN1):c.11461A>T (p.Thr3821Ser)
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
NM_031935.3(HMCN1):c.11488A>T (p.Ile3830Leu)
NM_031935.3(HMCN1):c.11491C>G (p.Pro3831Ala)
NM_031935.3(HMCN1):c.11505C>G (p.Ile3835Met)
NM_031935.3(HMCN1):c.11507A>G (p.Asn3836Ser) rs767569555
NM_031935.3(HMCN1):c.11525A>G (p.His3842Arg)
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro) rs1661087003
NM_031935.3(HMCN1):c.11557T>C (p.Tyr3853His)
NM_031935.3(HMCN1):c.11562-1G>A
NM_031935.3(HMCN1):c.11562G>T (p.Arg3854Ser)
NM_031935.3(HMCN1):c.115G>A (p.Ala39Thr)
NM_031935.3(HMCN1):c.11603T>C (p.Val3868Ala)
NM_031935.3(HMCN1):c.11617A>G (p.Thr3873Ala)
NM_031935.3(HMCN1):c.1162A>G (p.Ile388Val)
NM_031935.3(HMCN1):c.11638A>G (p.Asn3880Asp)
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
NM_031935.3(HMCN1):c.11660G>T (p.Arg3887Ile)
NM_031935.3(HMCN1):c.11663C>T (p.Thr3888Ile)
NM_031935.3(HMCN1):c.11665G>A (p.Val3889Met)
NM_031935.3(HMCN1):c.11669A>C (p.Asp3890Ala)
NM_031935.3(HMCN1):c.11683+6A>G
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu) rs761533889
NM_031935.3(HMCN1):c.11695A>G (p.Ile3899Val)
NM_031935.3(HMCN1):c.11726C>T (p.Thr3909Ile)
NM_031935.3(HMCN1):c.11741C>T (p.Ala3914Val)
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
NM_031935.3(HMCN1):c.11774T>G (p.Phe3925Cys)
NM_031935.3(HMCN1):c.11780C>T (p.Ser3927Leu)
NM_031935.3(HMCN1):c.11785C>T (p.His3929Tyr)
NM_031935.3(HMCN1):c.11789G>A (p.Trp3930Ter)
NM_031935.3(HMCN1):c.11812C>A (p.Leu3938Ile)
NM_031935.3(HMCN1):c.11822G>A (p.Gly3941Glu)
NM_031935.3(HMCN1):c.11826T>A (p.Asp3942Glu)
NM_031935.3(HMCN1):c.11830T>G (p.Tyr3944Asp)
NM_031935.3(HMCN1):c.11831A>G (p.Tyr3944Cys)
NM_031935.3(HMCN1):c.11840T>C (p.Leu3947Pro) rs2102481670
NM_031935.3(HMCN1):c.11848+4A>C
NM_031935.3(HMCN1):c.11849G>A (p.Gly3950Glu)
NM_031935.3(HMCN1):c.11851G>A (p.Ala3951Thr)
NM_031935.3(HMCN1):c.11863C>T (p.Leu3955Phe)
NM_031935.3(HMCN1):c.11867C>T (p.Ala3956Val)
NM_031935.3(HMCN1):c.11880C>A (p.Asn3960Lys)
NM_031935.3(HMCN1):c.11882A>G (p.His3961Arg)
NM_031935.3(HMCN1):c.1189C>G (p.Pro397Ala)
NM_031935.3(HMCN1):c.11905G>T (p.Ala3969Ser)
NM_031935.3(HMCN1):c.11944C>T (p.Leu3982Phe)
NM_031935.3(HMCN1):c.11948A>T (p.His3983Leu)
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr) rs886045681
NM_031935.3(HMCN1):c.11956+3A>T
NM_031935.3(HMCN1):c.11971C>G (p.Gln3991Glu)
NM_031935.3(HMCN1):c.11974C>T (p.Pro3992Ser)
NM_031935.3(HMCN1):c.11981C>G (p.Pro3994Arg)
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=) rs752889177
NM_031935.3(HMCN1):c.12041C>T (p.Thr4014Ile)
NM_031935.3(HMCN1):c.12047G>T (p.Ser4016Ile) rs1661313788
NM_031935.3(HMCN1):c.12057T>G (p.Ile4019Met)
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
NM_031935.3(HMCN1):c.12093A>C (p.Ser4031=)
NM_031935.3(HMCN1):c.12107C>T (p.Ala4036Val)
NM_031935.3(HMCN1):c.12112C>T (p.Leu4038Phe)
NM_031935.3(HMCN1):c.12115C>G (p.Pro4039Ala)
NM_031935.3(HMCN1):c.12124G>A (p.Gly4042Ser)
NM_031935.3(HMCN1):c.12142G>A (p.Ala4048Thr)
NM_031935.3(HMCN1):c.12163A>G (p.Thr4055Ala) rs2102488229
NM_031935.3(HMCN1):c.12169A>C (p.Met4057Leu)
NM_031935.3(HMCN1):c.12169A>G (p.Met4057Val)
NM_031935.3(HMCN1):c.12178G>A (p.Ala4060Thr)
NM_031935.3(HMCN1):c.12188C>T (p.Pro4063Leu)
NM_031935.3(HMCN1):c.12197C>G (p.Thr4066Arg)
NM_031935.3(HMCN1):c.12205G>A (p.Gly4069Ser)
NM_031935.3(HMCN1):c.12224T>C (p.Val4075Ala)
NM_031935.3(HMCN1):c.1222T>C (p.Tyr408His)
NM_031935.3(HMCN1):c.12239T>G (p.Val4080Gly)
NM_031935.3(HMCN1):c.1223A>G (p.Tyr408Cys)
NM_031935.3(HMCN1):c.12242T>C (p.Ile4081Thr)
NM_031935.3(HMCN1):c.12248C>T (p.Pro4083Leu)
NM_031935.3(HMCN1):c.12260A>T (p.Glu4087Val)
NM_031935.3(HMCN1):c.12269T>C (p.Ile4090Thr)
NM_031935.3(HMCN1):c.12275T>G (p.Val4092Gly)
NM_031935.3(HMCN1):c.12284C>T (p.Pro4095Leu) rs761375779
NM_031935.3(HMCN1):c.12305C>G (p.Ala4102Gly)
NM_031935.3(HMCN1):c.1231G>A (p.Asp411Asn)
NM_031935.3(HMCN1):c.12325G>A (p.Asp4109Asn)
NM_031935.3(HMCN1):c.12347G>T (p.Gly4116Val)
NM_031935.3(HMCN1):c.12370C>T (p.Arg4124Cys)
NM_031935.3(HMCN1):c.12371G>A (p.Arg4124His)
NM_031935.3(HMCN1):c.12388T>C (p.Ser4130Pro)
NM_031935.3(HMCN1):c.12413T>C (p.Val4138Ala) rs1430000255
NM_031935.3(HMCN1):c.12428C>G (p.Ala4143Gly)
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser) rs1661480969
NM_031935.3(HMCN1):c.12485A>G (p.Lys4162Arg)
NM_031935.3(HMCN1):c.12493G>A (p.Val4165Ile)
NM_031935.3(HMCN1):c.12502C>T (p.Pro4168Ser)
NM_031935.3(HMCN1):c.12527G>T (p.Gly4176Val)
NM_031935.3(HMCN1):c.12531C>G (p.His4177Gln)
NM_031935.3(HMCN1):c.12535A>G (p.Thr4179Ala)
NM_031935.3(HMCN1):c.12545A>G (p.Glu4182Gly)
NM_031935.3(HMCN1):c.12554A>C (p.Gln4185Pro)
NM_031935.3(HMCN1):c.12590C>T (p.Thr4197Ile)
NM_031935.3(HMCN1):c.12604T>A (p.Trp4202Arg)
NM_031935.3(HMCN1):c.12617A>G (p.Asn4206Ser)
NM_031935.3(HMCN1):c.12659C>T (p.Pro4220Leu)
NM_031935.3(HMCN1):c.12669A>C (p.Glu4223Asp)
NM_031935.3(HMCN1):c.12680A>G (p.Glu4227Gly)
NM_031935.3(HMCN1):c.126_127delinsTT (p.Leu42_Ala43delinsPheSer)
NM_031935.3(HMCN1):c.12725A>T (p.Asn4242Ile)
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
NM_031935.3(HMCN1):c.12730G>A (p.Ala4244Thr)
NM_031935.3(HMCN1):c.12737G>A (p.Gly4246Asp)
NM_031935.3(HMCN1):c.1273A>T (p.Ser425Cys)
NM_031935.3(HMCN1):c.12745A>T (p.Thr4249Ser)
NM_031935.3(HMCN1):c.12761T>C (p.Leu4254Pro)
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro) rs1661739529
NM_031935.3(HMCN1):c.1276A>C (p.Ile426Leu)
NM_031935.3(HMCN1):c.12788C>T (p.Thr4263Ile)
NM_031935.3(HMCN1):c.12793C>A (p.Leu4265Ile)
NM_031935.3(HMCN1):c.12805G>A (p.Val4269Met)
NM_031935.3(HMCN1):c.12821G>C (p.Gly4274Ala)
NM_031935.3(HMCN1):c.12833G>A (p.Arg4278Gln)
NM_031935.3(HMCN1):c.12839G>C (p.Ser4280Thr)
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala) rs886045683
NM_031935.3(HMCN1):c.12864G>C (p.Leu4288Phe)
NM_031935.3(HMCN1):c.12887A>G (p.Asn4296Ser)
NM_031935.3(HMCN1):c.12905-1G>A
NM_031935.3(HMCN1):c.12916A>G (p.Ser4306Gly)
NM_031935.3(HMCN1):c.12920T>C (p.Val4307Ala)
NM_031935.3(HMCN1):c.12926G>A (p.Gly4309Glu)
NM_031935.3(HMCN1):c.12931A>C (p.Ser4311Arg)
NM_031935.3(HMCN1):c.12936A>G (p.Glu4312=) rs1661842867
NM_031935.3(HMCN1):c.12952G>A (p.Val4318Met)
NM_031935.3(HMCN1):c.12953T>G (p.Val4318Gly)
NM_031935.3(HMCN1):c.12970G>A (p.Gly4324Ser)
NM_031935.3(HMCN1):c.1297G>A (p.Val433Ile) rs1381049052
NM_031935.3(HMCN1):c.12988G>A (p.Ala4330Thr)
NM_031935.3(HMCN1):c.12989C>T (p.Ala4330Val)
NM_031935.3(HMCN1):c.13000G>A (p.Val4334Ile)
NM_031935.3(HMCN1):c.1301C>T (p.Thr434Met)
NM_031935.3(HMCN1):c.13021G>A (p.Gly4341Arg)
NM_031935.3(HMCN1):c.13027G>T (p.Val4343Phe)
NM_031935.3(HMCN1):c.13031A>T (p.Tyr4344Phe)
NM_031935.3(HMCN1):c.13039+2T>G
NM_031935.3(HMCN1):c.13039+5G>A
NM_031935.3(HMCN1):c.13039+6G>A
NM_031935.3(HMCN1):c.13045_13046delinsGT (p.Pro4349Val) rs2102516381
NM_031935.3(HMCN1):c.1304T>C (p.Met435Thr)
NM_031935.3(HMCN1):c.13057G>A (p.Gly4353Ser)
NM_031935.3(HMCN1):c.13063dup (p.Tyr4355fs)
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
NM_031935.3(HMCN1):c.13074C>A (p.Asn4358Lys)
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe) rs372109906
NM_031935.3(HMCN1):c.13087C>G (p.Leu4363Val)
NM_031935.3(HMCN1):c.13093G>C (p.Gly4365Arg)
NM_031935.3(HMCN1):c.13102A>G (p.Ile4368Val)
NM_031935.3(HMCN1):c.13103T>A (p.Ile4368Asn)
NM_031935.3(HMCN1):c.1310A>G (p.Glu437Gly)
NM_031935.3(HMCN1):c.13146G>C (p.Gln4382His)
NM_031935.3(HMCN1):c.13169T>C (p.Ile4390Thr)
NM_031935.3(HMCN1):c.13187T>C (p.Ile4396Thr)
NM_031935.3(HMCN1):c.1322G>A (p.Gly441Glu)
NM_031935.3(HMCN1):c.13231-12T>G rs1661981826
NM_031935.3(HMCN1):c.13241C>T (p.Ala4414Val)
NM_031935.3(HMCN1):c.13243G>A (p.Gly4415Ser)
NM_031935.3(HMCN1):c.13248C>A (p.Asp4416Glu) rs1000886295
NM_031935.3(HMCN1):c.13268A>G (p.Asn4423Ser)
NM_031935.3(HMCN1):c.13271A>G (p.Glu4424Gly)
NM_031935.3(HMCN1):c.13274C>T (p.Ala4425Val)
NM_031935.3(HMCN1):c.13289G>A (p.Arg4430His)
NM_031935.3(HMCN1):c.13313-1G>A
NM_031935.3(HMCN1):c.13346C>T (p.Thr4449Ile) rs758752400
NM_031935.3(HMCN1):c.13375T>G (p.Leu4459Val)
NM_031935.3(HMCN1):c.1337C>A (p.Pro446Gln)
NM_031935.3(HMCN1):c.1337C>T (p.Pro446Leu)
NM_031935.3(HMCN1):c.13423C>T (p.Arg4475Cys)
NM_031935.3(HMCN1):c.13424G>A (p.Arg4475His)
NM_031935.3(HMCN1):c.13426C>G (p.Gln4476Glu)
NM_031935.3(HMCN1):c.13430G>A (p.Gly4477Glu)
NM_031935.3(HMCN1):c.13435T>G (p.Ser4479Ala)
NM_031935.3(HMCN1):c.13441_13442delinsAA (p.Ser4481Asn) rs2102533542
NM_031935.3(HMCN1):c.13444T>G (p.Trp4482Gly)
NM_031935.3(HMCN1):c.13447G>A (p.Asp4483Asn)
NM_031935.3(HMCN1):c.13453C>T (p.Arg4485Trp)
NM_031935.3(HMCN1):c.13454G>A (p.Arg4485Gln)
NM_031935.3(HMCN1):c.13461C>G (p.Asn4487Lys)
NM_031935.3(HMCN1):c.13486A>G (p.Ile4496Val)
NM_031935.3(HMCN1):c.13500G>C (p.Gln4500His)
NM_031935.3(HMCN1):c.13525T>C (p.Cys4509Arg) rs2102533769
NM_031935.3(HMCN1):c.13528G>A (p.Val4510Ile)
NM_031935.3(HMCN1):c.13534C>T (p.Arg4512Ter)
NM_031935.3(HMCN1):c.13535G>A (p.Arg4512Gln)
NM_031935.3(HMCN1):c.1354T>C (p.Ser452Pro)
NM_031935.3(HMCN1):c.1355C>G (p.Ser452Cys)
NM_031935.3(HMCN1):c.13582+5G>A
NM_031935.3(HMCN1):c.13583-15A>G
NM_031935.3(HMCN1):c.13589G>A (p.Gly4530Asp)
NM_031935.3(HMCN1):c.13601A>T (p.Gln4534Leu)
NM_031935.3(HMCN1):c.13618G>A (p.Ala4540Thr)
NM_031935.3(HMCN1):c.13621T>C (p.Cys4541Arg)
NM_031935.3(HMCN1):c.13631C>A (p.Thr4544Asn)
NM_031935.3(HMCN1):c.1363A>G (p.Ser455Gly)
NM_031935.3(HMCN1):c.13642G>A (p.Gly4548Ser)
NM_031935.3(HMCN1):c.13661G>A (p.Arg4554His)
NM_031935.3(HMCN1):c.13669A>G (p.Asn4557Asp)
NM_031935.3(HMCN1):c.1367T>C (p.Leu456Pro)
NM_031935.3(HMCN1):c.13681C>G (p.Pro4561Ala)
NM_031935.3(HMCN1):c.13707A>C (p.Gln4569His)
NM_031935.3(HMCN1):c.13726C>G (p.Arg4576Gly)
NM_031935.3(HMCN1):c.13726C>T (p.Arg4576Ter)
NM_031935.3(HMCN1):c.13727G>A (p.Arg4576Gln)
NM_031935.3(HMCN1):c.13736A>C (p.Gln4579Pro)
NM_031935.3(HMCN1):c.13747T>C (p.Cys4583Arg)
NM_031935.3(HMCN1):c.13754-2A>G
NM_031935.3(HMCN1):c.13769C>T (p.Ser4590Leu)
NM_031935.3(HMCN1):c.13778G>A (p.Ser4593Asn)
NM_031935.3(HMCN1):c.13810C>T (p.Arg4604Cys)
NM_031935.3(HMCN1):c.13811G>A (p.Arg4604His)
NM_031935.3(HMCN1):c.13813G>A (p.Gly4605Ser)
NM_031935.3(HMCN1):c.13817A>G (p.Asn4606Ser)
NM_031935.3(HMCN1):c.13828A>G (p.Thr4610Ala)
NM_031935.3(HMCN1):c.13832G>A (p.Arg4611Lys)
NM_031935.3(HMCN1):c.13858C>T (p.His4620Tyr)
NM_031935.3(HMCN1):c.13862G>A (p.Gly4621Asp)
NM_031935.3(HMCN1):c.13882A>G (p.Asn4628Asp) rs2102537023
NM_031935.3(HMCN1):c.13885G>A (p.Ala4629Thr)
NM_031935.3(HMCN1):c.13889T>C (p.Val4630Ala)
NM_031935.3(HMCN1):c.13921C>G (p.Pro4641Ala)
NM_031935.3(HMCN1):c.13930G>A (p.Gly4644Arg)
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
NM_031935.3(HMCN1):c.13940G>A (p.Ser4647Asn) rs1650139224
NM_031935.3(HMCN1):c.13942G>A (p.Ala4648Thr)
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) rs367723447
NM_031935.3(HMCN1):c.1394G>A (p.Arg465Lys)
NM_031935.3(HMCN1):c.13958G>A (p.Gly4653Glu)
NM_031935.3(HMCN1):c.13969G>A (p.Glu4657Lys)
NM_031935.3(HMCN1):c.1396A>T (p.Asn466Tyr) rs2102481097
NM_031935.3(HMCN1):c.13979G>A (p.Gly4660Glu)
NM_031935.3(HMCN1):c.14016C>A (p.Asn4672Lys)
NM_031935.3(HMCN1):c.14016C>G (p.Asn4672Lys)
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
NM_031935.3(HMCN1):c.14026G>T (p.Ala4676Ser)
NM_031935.3(HMCN1):c.14051G>C (p.Gly4684Ala)
NM_031935.3(HMCN1):c.14054C>T (p.Ala4685Val) rs1650146890
NM_031935.3(HMCN1):c.14066T>C (p.Met4689Thr)
NM_031935.3(HMCN1):c.14095+3A>G
NM_031935.3(HMCN1):c.14099A>G (p.His4700Arg)
NM_031935.3(HMCN1):c.14113A>G (p.Thr4705Ala) rs1315645100
NM_031935.3(HMCN1):c.14114C>A (p.Thr4705Asn)
NM_031935.3(HMCN1):c.1411G>A (p.Gly471Arg)
NM_031935.3(HMCN1):c.14123G>C (p.Ser4708Thr)
NM_031935.3(HMCN1):c.14128A>G (p.Ser4710Gly)
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
NM_031935.3(HMCN1):c.14134T>C (p.Cys4712Arg)
NM_031935.3(HMCN1):c.1415T>C (p.Val472Ala)
NM_031935.3(HMCN1):c.1415T>G (p.Val472Gly)
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr)
NM_031935.3(HMCN1):c.14168_14169del (p.Arg4723fs)
NM_031935.3(HMCN1):c.14177G>A (p.Gly4726Asp)
NM_031935.3(HMCN1):c.14183C>T (p.Ser4728Phe) rs1650196834
NM_031935.3(HMCN1):c.14195C>A (p.Pro4732His)
NM_031935.3(HMCN1):c.14209A>G (p.Arg4737Gly)
NM_031935.3(HMCN1):c.14218G>A (p.Glu4740Lys)
NM_031935.3(HMCN1):c.14221G>A (p.Gly4741Arg)
NM_031935.3(HMCN1):c.14236A>G (p.Ser4746Gly)
NM_031935.3(HMCN1):c.14237G>A (p.Ser4746Asn)
NM_031935.3(HMCN1):c.14249A>G (p.Asn4750Ser)
NM_031935.3(HMCN1):c.14266+7_14266+22del
NM_031935.3(HMCN1):c.14312G>A (p.Arg4771Gln)
NM_031935.3(HMCN1):c.14318G>A (p.Cys4773Tyr)
NM_031935.3(HMCN1):c.14338C>T (p.Arg4780Trp)
NM_031935.3(HMCN1):c.14345G>A (p.Arg4782His)
NM_031935.3(HMCN1):c.14362C>G (p.Pro4788Ala)
NM_031935.3(HMCN1):c.14371A>G (p.Asn4791Asp)
NM_031935.3(HMCN1):c.14383G>C (p.Ala4795Pro)
NM_031935.3(HMCN1):c.14416T>C (p.Cys4806Arg)
NM_031935.3(HMCN1):c.14420A>T (p.Asn4807Ile)
NM_031935.3(HMCN1):c.14428A>G (p.Met4810Val)
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
NM_031935.3(HMCN1):c.14437+3G>A
NM_031935.3(HMCN1):c.14437+6C>T rs972515280
NM_031935.3(HMCN1):c.14438-2A>G
NM_031935.3(HMCN1):c.14438-3C>T
NM_031935.3(HMCN1):c.14452G>A (p.Gly4818Arg)
NM_031935.3(HMCN1):c.14456G>C (p.Ser4819Thr)
NM_031935.3(HMCN1):c.14467T>C (p.Trp4823Arg) rs2102558306
NM_031935.3(HMCN1):c.14497G>A (p.Gly4833Ser)
NM_031935.3(HMCN1):c.14509C>T (p.Arg4837Trp)
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
NM_031935.3(HMCN1):c.14524G>A (p.Asp4842Asn)
NM_031935.3(HMCN1):c.14533G>C (p.Val4845Leu)
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
NM_031935.3(HMCN1):c.14551C>T (p.Arg4851Cys)
NM_031935.3(HMCN1):c.14552G>A (p.Arg4851His)
NM_031935.3(HMCN1):c.14563G>A (p.Gly4855Arg)
NM_031935.3(HMCN1):c.14570C>A (p.Thr4857Asn)
NM_031935.3(HMCN1):c.1457T>C (p.Ile486Thr)
NM_031935.3(HMCN1):c.14588G>A (p.Cys4863Tyr)
NM_031935.3(HMCN1):c.14608+14T>G rs150050864
NM_031935.3(HMCN1):c.14609-6dup rs759638529
NM_031935.3(HMCN1):c.14615C>T (p.Pro4872Leu)
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met) rs886045686
NM_031935.3(HMCN1):c.1464G>T (p.Lys488Asn)
NM_031935.3(HMCN1):c.14672C>T (p.Ala4891Val) rs2102573780
NM_031935.3(HMCN1):c.1468A>G (p.Thr490Ala)
NM_031935.3(HMCN1):c.14695G>A (p.Asp4899Asn)
NM_031935.3(HMCN1):c.14701C>G (p.Pro4901Ala) rs920826770
NM_031935.3(HMCN1):c.14701C>T (p.Pro4901Ser)
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561
NM_031935.3(HMCN1):c.14743G>A (p.Val4915Ile)
NM_031935.3(HMCN1):c.14758+3_14758+6del
NM_031935.3(HMCN1):c.14759-3T>C
NM_031935.3(HMCN1):c.14759G>A (p.Gly4920Asp)
NM_031935.3(HMCN1):c.14767A>G (p.Met4923Val)
NM_031935.3(HMCN1):c.14777_14778del (p.Ile4926fs)
NM_031935.3(HMCN1):c.14792A>G (p.Asn4931Ser)
NM_031935.3(HMCN1):c.14798T>C (p.Ile4933Thr)
NM_031935.3(HMCN1):c.1480G>T (p.Glu494Ter)
NM_031935.3(HMCN1):c.14825G>T (p.Gly4942Val) rs1327769785
NM_031935.3(HMCN1):c.14872G>A (p.Glu4958Lys)
NM_031935.3(HMCN1):c.14897-5C>A
NM_031935.3(HMCN1):c.14911A>C (p.Met4971Leu)
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
NM_031935.3(HMCN1):c.14938T>C (p.Ser4980Pro)
NM_031935.3(HMCN1):c.14941G>A (p.Asp4981Asn)
NM_031935.3(HMCN1):c.14941G>T (p.Asp4981Tyr)
NM_031935.3(HMCN1):c.14944G>A (p.Gly4982Ser)
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
NM_031935.3(HMCN1):c.14965G>A (p.Val4989Ile)
NM_031935.3(HMCN1):c.14978A>G (p.Tyr4993Cys)
NM_031935.3(HMCN1):c.15019G>A (p.Asp5007Asn)
NM_031935.3(HMCN1):c.15026C>G (p.Thr5009Arg) rs775634198
NM_031935.3(HMCN1):c.15039T>G (p.Ile5013Met)
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala) rs767233028
NM_031935.3(HMCN1):c.15049C>G (p.Pro5017Ala)
NM_031935.3(HMCN1):c.15101del (p.Ser5034fs)
NM_031935.3(HMCN1):c.15139C>A (p.Gln5047Lys)
NM_031935.3(HMCN1):c.15148G>A (p.Gly5050Arg)
NM_031935.3(HMCN1):c.15149G>A (p.Gly5050Glu)
NM_031935.3(HMCN1):c.15194A>G (p.Glu5065Gly)
NM_031935.3(HMCN1):c.15199G>T (p.Asp5067Tyr)
NM_031935.3(HMCN1):c.15238C>T (p.His5080Tyr)
NM_031935.3(HMCN1):c.15256+1G>T
NM_031935.3(HMCN1):c.15256+5T>A
NM_031935.3(HMCN1):c.15257G>A (p.Gly5086Glu)
NM_031935.3(HMCN1):c.15258A>T (p.Gly5086=)
NM_031935.3(HMCN1):c.15262C>T (p.Arg5088Cys)
NM_031935.3(HMCN1):c.15263G>A (p.Arg5088His)
NM_031935.3(HMCN1):c.15265A>G (p.Ser5089Gly)
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys) rs749090856
NM_031935.3(HMCN1):c.1526G>A (p.Arg509Gln)
NM_031935.3(HMCN1):c.15272A>G (p.Gln5091Arg)
NM_031935.3(HMCN1):c.15274T>C (p.Cys5092Arg)
NM_031935.3(HMCN1):c.15277C>T (p.Pro5093Ser)
NM_031935.3(HMCN1):c.1528G>A (p.Ala510Thr)
NM_031935.3(HMCN1):c.15290C>A (p.Thr5097Asn)
NM_031935.3(HMCN1):c.15302T>C (p.Val5101Ala)
NM_031935.3(HMCN1):c.15329A>C (p.Glu5110Ala)
NM_031935.3(HMCN1):c.15335C>A (p.Ala5112Glu)
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr) rs886045688
NM_031935.3(HMCN1):c.1535C>T (p.Thr512Ile)
NM_031935.3(HMCN1):c.15364C>T (p.His5122Tyr)
NM_031935.3(HMCN1):c.15365A>G (p.His5122Arg)
NM_031935.3(HMCN1):c.15380C>A (p.Thr5127Asn)
NM_031935.3(HMCN1):c.15392C>T (p.Ser5131Phe)
NM_031935.3(HMCN1):c.15410C>T (p.Thr5137Ile)
NM_031935.3(HMCN1):c.15440A>G (p.Asp5147Gly)
NM_031935.3(HMCN1):c.15449A>G (p.Glu5150Gly)
NM_031935.3(HMCN1):c.15470C>T (p.Thr5157Ile)
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
NM_031935.3(HMCN1):c.15487G>C (p.Asp5163His)
NM_031935.3(HMCN1):c.15496A>G (p.Asn5166Asp)
NM_031935.3(HMCN1):c.15502A>G (p.Ile5168Val)
NM_031935.3(HMCN1):c.15505G>A (p.Gly5169Arg)
NM_031935.3(HMCN1):c.15524T>G (p.Val5175Gly)
NM_031935.3(HMCN1):c.15526C>T (p.Arg5176Cys)
NM_031935.3(HMCN1):c.15527G>T (p.Arg5176Leu) rs150494959
NM_031935.3(HMCN1):c.15541T>C (p.Phe5181Leu)
NM_031935.3(HMCN1):c.15544C>T (p.Arg5182Ter)
NM_031935.3(HMCN1):c.15545G>A (p.Arg5182Gln)
NM_031935.3(HMCN1):c.15545G>T (p.Arg5182Leu)
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser) rs142062263
NM_031935.3(HMCN1):c.15551C>T (p.Thr5184Ile)
NM_031935.3(HMCN1):c.15556G>A (p.Asp5186Asn)
NM_031935.3(HMCN1):c.1555C>T (p.Pro519Ser)
NM_031935.3(HMCN1):c.15566G>A (p.Ser5189Asn)
NM_031935.3(HMCN1):c.15574+4T>A
NM_031935.3(HMCN1):c.15574+4T>C
NM_031935.3(HMCN1):c.15575-1G>T
NM_031935.3(HMCN1):c.15577A>G (p.Ile5193Val)
NM_031935.3(HMCN1):c.1559C>T (p.Pro520Leu)
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser) rs1652220614
NM_031935.3(HMCN1):c.15626C>T (p.Ala5209Val)
NM_031935.3(HMCN1):c.15634A>T (p.Ser5212Cys)
NM_031935.3(HMCN1):c.15664C>T (p.Gln5222Ter)
NM_031935.3(HMCN1):c.1568T>C (p.Ile523Thr)
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
NM_031935.3(HMCN1):c.15697G>A (p.Glu5233Lys)
NM_031935.3(HMCN1):c.15699G>C (p.Glu5233Asp)
NM_031935.3(HMCN1):c.15710A>T (p.Asn5237Ile)
NM_031935.3(HMCN1):c.15712G>A (p.Val5238Ile)
NM_031935.3(HMCN1):c.15718A>G (p.Arg5240Gly)
NM_031935.3(HMCN1):c.15724G>T (p.Asp5242Tyr)
NM_031935.3(HMCN1):c.15725A>G (p.Asp5242Gly)
NM_031935.3(HMCN1):c.15745C>T (p.Arg5249Cys)
NM_031935.3(HMCN1):c.15754T>C (p.Tyr5252His) rs1652266749
NM_031935.3(HMCN1):c.15763A>C (p.Ile5255Leu)
NM_031935.3(HMCN1):c.15766G>A (p.Asp5256Asn)
NM_031935.3(HMCN1):c.1576C>T (p.Pro526Ser)
NM_031935.3(HMCN1):c.15775C>G (p.Pro5259Ala)
NM_031935.3(HMCN1):c.15775C>T (p.Pro5259Ser)
NM_031935.3(HMCN1):c.15778A>G (p.Asn5260Asp)
NM_031935.3(HMCN1):c.15797A>C (p.Glu5266Ala)
NM_031935.3(HMCN1):c.15799A>G (p.Asn5267Asp)
NM_031935.3(HMCN1):c.15803G>A (p.Gly5268Glu)
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
NM_031935.3(HMCN1):c.15811A>G (p.Ile5271Val)
NM_031935.3(HMCN1):c.1582A>G (p.Asn528Asp)
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=) rs538516291
NM_031935.3(HMCN1):c.15859C>A (p.Gln5287Lys)
NM_031935.3(HMCN1):c.15865T>C (p.Cys5289Arg)
NM_031935.3(HMCN1):c.15868G>A (p.Glu5290Lys)
NM_031935.3(HMCN1):c.15889C>T (p.Arg5297Cys)
NM_031935.3(HMCN1):c.1588A>G (p.Thr530Ala)
NM_031935.3(HMCN1):c.15890G>A (p.Arg5297His)
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
NM_031935.3(HMCN1):c.1589C>G (p.Thr530Arg) rs189951644
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile) rs189951644
NM_031935.3(HMCN1):c.15904A>G (p.Arg5302Gly)
NM_031935.3(HMCN1):c.15913C>T (p.Arg5305Trp)
NM_031935.3(HMCN1):c.15940A>C (p.Met5314Leu)
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
NM_031935.3(HMCN1):c.15943+1G>T rs377293468
NM_031935.3(HMCN1):c.1597C>T (p.Pro533Ser)
NM_031935.3(HMCN1):c.15983A>G (p.His5328Arg)
NM_031935.3(HMCN1):c.15998C>A (p.Thr5333Asn)
NM_031935.3(HMCN1):c.15998C>T (p.Thr5333Ile)
NM_031935.3(HMCN1):c.16003G>A (p.Gly5335Ser)
NM_031935.3(HMCN1):c.16010T>G (p.Phe5337Cys) rs2102655079
NM_031935.3(HMCN1):c.16027C>T (p.Pro5343Ser)
NM_031935.3(HMCN1):c.16028C>A (p.Pro5343Gln) rs1558285041
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.16051G>A (p.Gly5351Arg)
NM_031935.3(HMCN1):c.16063G>C (p.Ala5355Pro) rs775803858
NM_031935.3(HMCN1):c.16077G>C (p.Arg5359Ser)
NM_031935.3(HMCN1):c.1607G>A (p.Arg536Lys)
NM_031935.3(HMCN1):c.1607G>C (p.Arg536Thr)
NM_031935.3(HMCN1):c.16094C>T (p.Thr5365Ile)
NM_031935.3(HMCN1):c.16100A>G (p.Tyr5367Cys)
NM_031935.3(HMCN1):c.16114C>T (p.Leu5372Phe)
NM_031935.3(HMCN1):c.16118C>T (p.Ala5373Val)
NM_031935.3(HMCN1):c.16120C>T (p.Arg5374Trp)
NM_031935.3(HMCN1):c.16132G>A (p.Val5378Met)
NM_031935.3(HMCN1):c.16142A>G (p.Asn5381Ser)
NM_031935.3(HMCN1):c.16157A>G (p.Gln5386Arg)
NM_031935.3(HMCN1):c.16173C>G (p.Tyr5391Ter)
NM_031935.3(HMCN1):c.16178A>T (p.His5393Leu)
NM_031935.3(HMCN1):c.16193A>C (p.Tyr5398Ser)
NM_031935.3(HMCN1):c.16195T>G (p.Ser5399Ala)
NM_031935.3(HMCN1):c.16208A>G (p.Asn5403Ser)
NM_031935.3(HMCN1):c.16212C>A (p.Ser5404Arg)
NM_031935.3(HMCN1):c.16213A>G (p.Arg5405Gly)
NM_031935.3(HMCN1):c.16226C>T (p.Ser5409Phe)
NM_031935.3(HMCN1):c.16243A>G (p.Ile5415Val)
NM_031935.3(HMCN1):c.16265G>C (p.Gly5422Ala)
NM_031935.3(HMCN1):c.16265G>T (p.Gly5422Val)
NM_031935.3(HMCN1):c.16273G>A (p.Ala5425Thr)
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
NM_031935.3(HMCN1):c.16281T>A (p.His5427Gln)
NM_031935.3(HMCN1):c.1628T>A (p.Ile543Asn)
NM_031935.3(HMCN1):c.16294+4A>T
NM_031935.3(HMCN1):c.16322C>A (p.Ala5441Asp)
NM_031935.3(HMCN1):c.16339A>G (p.Lys5447Glu)
NM_031935.3(HMCN1):c.1637C>T (p.Ala546Val)
NM_031935.3(HMCN1):c.16382A>G (p.Tyr5461Cys)
NM_031935.3(HMCN1):c.16391C>A (p.Thr5464Lys)
NM_031935.3(HMCN1):c.16396A>C (p.Asn5466His)
NM_031935.3(HMCN1):c.16414+12T>C rs886045692
NM_031935.3(HMCN1):c.1648A>T (p.Asn550Tyr)
NM_031935.3(HMCN1):c.16547G>T (p.Cys5516Phe)
NM_031935.3(HMCN1):c.16549C>T (p.Leu5517Phe)
NM_031935.3(HMCN1):c.16564C>A (p.Pro5522Thr)
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=) rs1653581731
NM_031935.3(HMCN1):c.16612C>A (p.Leu5538Ile)
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe) rs369798131
NM_031935.3(HMCN1):c.16615G>A (p.Val5539Ile)
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu) rs886045693
NM_031935.3(HMCN1):c.16639A>T (p.Thr5547Ser)
NM_031935.3(HMCN1):c.16654A>G (p.Ile5552Val)
NM_031935.3(HMCN1):c.16654A>T (p.Ile5552Phe)
NM_031935.3(HMCN1):c.16703C>T (p.Thr5568Ile)
NM_031935.3(HMCN1):c.16708C>T (p.Leu5570Phe)
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=) rs749265997
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val)
NM_031935.3(HMCN1):c.16780A>G (p.Thr5594Ala)
NM_031935.3(HMCN1):c.16784G>A (p.Arg5595Gln)
NM_031935.3(HMCN1):c.16792C>T (p.Arg5598Ter) rs193921043
NM_031935.3(HMCN1):c.16810C>T (p.Arg5604Cys)
NM_031935.3(HMCN1):c.16819G>A (p.Val5607Ile)
NM_031935.3(HMCN1):c.16823G>A (p.Arg5608Gln)
NM_031935.3(HMCN1):c.16834T>G (p.Tyr5612Asp)
NM_031935.3(HMCN1):c.16844A>G (p.Asn5615Ser)
NM_031935.3(HMCN1):c.16872C>A (p.Phe5624Leu)
NM_031935.3(HMCN1):c.16873A>G (p.Ile5625Val)
NM_031935.3(HMCN1):c.16876G>C (p.Val5626Leu)
NM_031935.3(HMCN1):c.16884A>G (p.Ile5628Met)
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
NM_031935.3(HMCN1):c.1697C>T (p.Ala566Val)
NM_031935.3(HMCN1):c.16G>A (p.Val6Ile)
NM_031935.3(HMCN1):c.1720C>A (p.Leu574Met)
NM_031935.3(HMCN1):c.1759G>A (p.Gly587Arg)
NM_031935.3(HMCN1):c.1778T>C (p.Val593Ala)
NM_031935.3(HMCN1):c.1780T>A (p.Ser594Thr)
NM_031935.3(HMCN1):c.1804G>A (p.Ala602Thr)
NM_031935.3(HMCN1):c.1817T>G (p.Leu606Arg)
NM_031935.3(HMCN1):c.1822G>C (p.Val608Leu)
NM_031935.3(HMCN1):c.1824G>T (p.Val608=) rs756585754
NM_031935.3(HMCN1):c.1828+3A>G
NM_031935.3(HMCN1):c.1852C>T (p.Pro618Ser)
NM_031935.3(HMCN1):c.1856A>G (p.Lys619Arg) rs373160107
NM_031935.3(HMCN1):c.1865C>T (p.Ser622Phe)
NM_031935.3(HMCN1):c.1903G>C (p.Ala635Pro)
NM_031935.3(HMCN1):c.1913A>G (p.Tyr638Cys)
NM_031935.3(HMCN1):c.1918A>G (p.Lys640Glu)
NM_031935.3(HMCN1):c.1921C>T (p.Pro641Ser)
NM_031935.3(HMCN1):c.1926G>T (p.Lys642Asn)
NM_031935.3(HMCN1):c.1945G>A (p.Asp649Asn)
NM_031935.3(HMCN1):c.1949T>C (p.Met650Thr)
NM_031935.3(HMCN1):c.1957G>A (p.Val653Met)
NM_031935.3(HMCN1):c.1970+12G>A
NM_031935.3(HMCN1):c.1973A>T (p.Tyr658Phe)
NM_031935.3(HMCN1):c.200T>C (p.Leu67Ser)
NM_031935.3(HMCN1):c.2030G>A (p.Gly677Glu)
NM_031935.3(HMCN1):c.2072A>G (p.Lys691Arg)
NM_031935.3(HMCN1):c.2075A>G (p.Gln692Arg)
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val) rs886045663
NM_031935.3(HMCN1):c.2095A>G (p.Ile699Val)
NM_031935.3(HMCN1):c.2099-11G>A rs886045664
NM_031935.3(HMCN1):c.2104C>T (p.Pro702Ser)
NM_031935.3(HMCN1):c.2105C>T (p.Pro702Leu)
NM_031935.3(HMCN1):c.2120T>A (p.Val707Asp)
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn) rs886045665
NM_031935.3(HMCN1):c.2131C>T (p.Leu711Phe)
NM_031935.3(HMCN1):c.2138_2147del (p.Val713fs) rs747533230
NM_031935.3(HMCN1):c.2150A>T (p.Asp717Val)
NM_031935.3(HMCN1):c.2194C>G (p.Gln732Glu)
NM_031935.3(HMCN1):c.2205G>C (p.Trp735Cys)
NM_031935.3(HMCN1):c.2212+4C>T
NM_031935.3(HMCN1):c.2257C>G (p.Leu753Val)
NM_031935.3(HMCN1):c.2275A>T (p.Ile759Phe)
NM_031935.3(HMCN1):c.2287C>G (p.Gln763Glu)
NM_031935.3(HMCN1):c.2317G>A (p.Val773Ile)
NM_031935.3(HMCN1):c.2318T>G (p.Val773Gly)
NM_031935.3(HMCN1):c.2320G>A (p.Ala774Thr)
NM_031935.3(HMCN1):c.2326A>C (p.Asn776His) rs1183242164
NM_031935.3(HMCN1):c.2344A>G (p.Thr782Ala)
NM_031935.3(HMCN1):c.2354T>C (p.Ile785Thr)
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val) rs886045666
NM_031935.3(HMCN1):c.2362G>A (p.Asp788Asn)
NM_031935.3(HMCN1):c.2369G>A (p.Gly790Asp) rs752448870
NM_031935.3(HMCN1):c.2374C>T (p.Pro792Ser)
NM_031935.3(HMCN1):c.2375C>T (p.Pro792Leu)
NM_031935.3(HMCN1):c.2388A>G (p.Ile796Met)
NM_031935.3(HMCN1):c.23A>T (p.His8Leu)
NM_031935.3(HMCN1):c.2411T>C (p.Met804Thr) rs1447338870
NM_031935.3(HMCN1):c.2414A>C (p.Glu805Ala)
NM_031935.3(HMCN1):c.2425A>G (p.Asn809Asp)
NM_031935.3(HMCN1):c.2441G>C (p.Cys814Ser)
NM_031935.3(HMCN1):c.2441G>T (p.Cys814Phe)
NM_031935.3(HMCN1):c.2455T>G (p.Tyr819Asp)
NM_031935.3(HMCN1):c.2467A>G (p.Thr823Ala)
NM_031935.3(HMCN1):c.2470A>G (p.Ile824Val)
NM_031935.3(HMCN1):c.2480G>A (p.Arg827Gln)
NM_031935.3(HMCN1):c.2489A>G (p.Asp830Gly)
NM_031935.3(HMCN1):c.2498C>T (p.Pro833Leu)
NM_031935.3(HMCN1):c.2507C>A (p.Ser836Ter)
NM_031935.3(HMCN1):c.2513C>T (p.Pro838Leu)
NM_031935.3(HMCN1):c.2532C>T (p.Ile844=)
NM_031935.3(HMCN1):c.254C>G (p.Pro85Arg)
NM_031935.3(HMCN1):c.254C>T (p.Pro85Leu)
NM_031935.3(HMCN1):c.2588_2589delinsTG (p.Gly863Val)
NM_031935.3(HMCN1):c.2612A>G (p.Asn871Ser)
NM_031935.3(HMCN1):c.2623A>G (p.Lys875Glu)
NM_031935.3(HMCN1):c.2637G>T (p.Glu879Asp)
NM_031935.3(HMCN1):c.2650G>A (p.Val884Met)
NM_031935.3(HMCN1):c.269-3C>T
NM_031935.3(HMCN1):c.271A>G (p.Ile91Val)
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=) rs775972475
NM_031935.3(HMCN1):c.2744C>T (p.Ala915Val)
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His) rs886045667
NM_031935.3(HMCN1):c.274G>T (p.Gly92Cys)
NM_031935.3(HMCN1):c.275G>A (p.Gly92Asp)
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.2764C>A (p.Arg922Ser) rs371598243
NM_031935.3(HMCN1):c.2764C>T (p.Arg922Cys)
NM_031935.3(HMCN1):c.2767C>T (p.Arg923Trp)
NM_031935.3(HMCN1):c.2803C>T (p.Pro935Ser)
NM_031935.3(HMCN1):c.2827G>A (p.Gly943Arg)
NM_031935.3(HMCN1):c.2837A>G (p.His946Arg)
NM_031935.3(HMCN1):c.2845del (p.Arg949fs)
NM_031935.3(HMCN1):c.2853G>T (p.Gln951His)
NM_031935.3(HMCN1):c.2861A>G (p.Asp954Gly)
NM_031935.3(HMCN1):c.2893G>A (p.Val965Ile)
NM_031935.3(HMCN1):c.2910del (p.Asn970fs)
NM_031935.3(HMCN1):c.2931_2932delinsAA (p.His978Asn)
NM_031935.3(HMCN1):c.2945C>A (p.Thr982Asn)
NM_031935.3(HMCN1):c.2952G>T (p.Gln984His)
NM_031935.3(HMCN1):c.2959CAG[3] (p.Gln988dup) rs2102018182
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn) rs1661793285
NM_031935.3(HMCN1):c.2996C>G (p.Thr999Ser)
NM_031935.3(HMCN1):c.2999T>C (p.Leu1000Ser)
NM_031935.3(HMCN1):c.3001C>T (p.Pro1001Ser)
NM_031935.3(HMCN1):c.3062T>C (p.Ile1021Thr)
NM_031935.3(HMCN1):c.3076G>A (p.Ala1026Thr)
NM_031935.3(HMCN1):c.3103A>G (p.Ser1035Gly)
NM_031935.3(HMCN1):c.3111T>A (p.Tyr1037Ter)
NM_031935.3(HMCN1):c.313T>A (p.Tyr105Asn)
NM_031935.3(HMCN1):c.314A>G (p.Tyr105Cys)
NM_031935.3(HMCN1):c.3155C>A (p.Thr1052Asn)
NM_031935.3(HMCN1):c.3194A>G (p.Gln1065Arg)
NM_031935.3(HMCN1):c.3206A>G (p.Tyr1069Cys)
NM_031935.3(HMCN1):c.3206A>T (p.Tyr1069Phe)
NM_031935.3(HMCN1):c.3209-5T>C
NM_031935.3(HMCN1):c.3217A>G (p.Arg1073Gly)
NM_031935.3(HMCN1):c.323G>A (p.Arg108Lys)
NM_031935.3(HMCN1):c.3271G>A (p.Val1091Ile)
NM_031935.3(HMCN1):c.3291A>G (p.Val1097=)
NM_031935.3(HMCN1):c.3323C>T (p.Pro1108Leu)
NM_031935.3(HMCN1):c.3335C>G (p.Thr1112Ser)
NM_031935.3(HMCN1):c.3365C>T (p.Pro1122Leu)
NM_031935.3(HMCN1):c.338A>G (p.Gln113Arg)
NM_031935.3(HMCN1):c.339+3G>A
NM_031935.3(HMCN1):c.3391C>T (p.Pro1131Ser)
NM_031935.3(HMCN1):c.339G>A (p.Gln113=)
NM_031935.3(HMCN1):c.3430G>A (p.Asp1144Asn)
NM_031935.3(HMCN1):c.3436G>A (p.Gly1146Arg)
NM_031935.3(HMCN1):c.3458C>T (p.Thr1153Ile)
NM_031935.3(HMCN1):c.3465T>G (p.Ile1155Met) rs2102037062
NM_031935.3(HMCN1):c.3474T>A (p.Asn1158Lys)
NM_031935.3(HMCN1):c.3479C>T (p.Thr1160Ile)
NM_031935.3(HMCN1):c.3482A>G (p.Gln1161Arg)
NM_031935.3(HMCN1):c.3491A>G (p.Lys1164Arg)
NM_031935.3(HMCN1):c.3494T>C (p.Leu1165Ser)
NM_031935.3(HMCN1):c.3506T>A (p.Val1169Asp)
NM_031935.3(HMCN1):c.3514A>G (p.Lys1172Glu)
NM_031935.3(HMCN1):c.3518T>C (p.Ile1173Thr)
NM_031935.3(HMCN1):c.3520C>A (p.Gln1174Lys)
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu) rs1468012804
NM_031935.3(HMCN1):c.3523C>G (p.Arg1175Gly) rs147236265
NM_031935.3(HMCN1):c.3523C>T (p.Arg1175Cys)
NM_031935.3(HMCN1):c.3560G>T (p.Arg1187Ile)
NM_031935.3(HMCN1):c.3575G>A (p.Cys1192Tyr) rs2102042948
NM_031935.3(HMCN1):c.3586G>C (p.Gly1196Arg)
NM_031935.3(HMCN1):c.3588G>T (p.Gly1196=)
NM_031935.3(HMCN1):c.3598C>T (p.Pro1200Ser)
NM_031935.3(HMCN1):c.3641A>G (p.Asp1214Gly)
NM_031935.3(HMCN1):c.3664C>T (p.Pro1222Ser)
NM_031935.3(HMCN1):c.3688C>A (p.Gln1230Lys)
NM_031935.3(HMCN1):c.368T>C (p.Ile123Thr)
NM_031935.3(HMCN1):c.3714A>G (p.Ile1238Met)
NM_031935.3(HMCN1):c.371G>A (p.Gly124Glu)
NM_031935.3(HMCN1):c.3722G>T (p.Cys1241Phe)
NM_031935.3(HMCN1):c.3743G>A (p.Gly1248Asp)
NM_031935.3(HMCN1):c.3759_3760del (p.Glu1253fs) rs1461614882
NM_031935.3(HMCN1):c.3761T>C (p.Ile1254Thr)
NM_031935.3(HMCN1):c.3776A>T (p.Gln1259Leu)
NM_031935.3(HMCN1):c.3784C>T (p.Pro1262Ser)
NM_031935.3(HMCN1):c.3805C>A (p.Pro1269Thr) rs2102052587
NM_031935.3(HMCN1):c.380A>G (p.Lys127Arg)
NM_031935.3(HMCN1):c.3812A>G (p.Tyr1271Cys)
NM_031935.3(HMCN1):c.3835G>C (p.Val1279Leu)
NM_031935.3(HMCN1):c.3842A>G (p.Asn1281Ser)
NM_031935.3(HMCN1):c.3844C>A (p.Gln1282Lys)
NM_031935.3(HMCN1):c.3847C>T (p.Arg1283Cys)
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
NM_031935.3(HMCN1):c.3851T>C (p.Ile1284Thr)
NM_031935.3(HMCN1):c.385G>T (p.Ala129Ser)
NM_031935.3(HMCN1):c.3874+1G>A
NM_031935.3(HMCN1):c.3874+2T>C
NM_031935.3(HMCN1):c.3874+3A>G
NM_031935.3(HMCN1):c.3874+4C>T
NM_031935.3(HMCN1):c.3874+6T>C
NM_031935.3(HMCN1):c.3889A>C (p.Thr1297Pro)
NM_031935.3(HMCN1):c.3889A>G (p.Thr1297Ala)
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
NM_031935.3(HMCN1):c.3900G>T (p.Trp1300Cys)
NM_031935.3(HMCN1):c.3910G>A (p.Gly1304Ser) rs2102062052
NM_031935.3(HMCN1):c.3917A>G (p.Glu1306Gly)
NM_031935.3(HMCN1):c.3947T>C (p.Ile1316Thr) rs1558130867
NM_031935.3(HMCN1):c.3961A>G (p.Thr1321Ala)
NM_031935.3(HMCN1):c.3970G>T (p.Val1324Phe)
NM_031935.3(HMCN1):c.3977C>A (p.Ala1326Asp)
NM_031935.3(HMCN1):c.4003G>A (p.Glu1335Lys)
NM_031935.3(HMCN1):c.4018G>T (p.Ala1340Ser)
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=) rs368008071
NM_031935.3(HMCN1):c.4069+10G>A
NM_031935.3(HMCN1):c.4076C>T (p.Pro1359Leu)
NM_031935.3(HMCN1):c.407G>T (p.Gly136Val) rs755376220
NM_031935.3(HMCN1):c.4127A>C (p.Gln1376Pro) rs2102067408
NM_031935.3(HMCN1):c.4160C>T (p.Thr1387Ile)
NM_031935.3(HMCN1):c.4177A>G (p.Met1393Val)
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu) rs1653190129
NM_031935.3(HMCN1):c.4184A>T (p.Tyr1395Phe)
NM_031935.3(HMCN1):c.4188A>T (p.Lys1396Asn)
NM_031935.3(HMCN1):c.4201-9C>A rs748273446
NM_031935.3(HMCN1):c.4207G>A (p.Glu1403Lys)
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=) rs1653204941
NM_031935.3(HMCN1):c.4214G>A (p.Ser1405Asn)
NM_031935.3(HMCN1):c.4229_4230del (p.Val1410fs)
NM_031935.3(HMCN1):c.4235A>G (p.Asn1412Ser)
NM_031935.3(HMCN1):c.4235_4246dup (p.Ile1415_Leu1416insHisGlyLysIle)
NM_031935.3(HMCN1):c.4268C>T (p.Pro1423Leu)
NM_031935.3(HMCN1):c.4279G>A (p.Gly1427Arg) rs2102068632
NM_031935.3(HMCN1):c.4282A>G (p.Arg1428Gly)
NM_031935.3(HMCN1):c.4304A>G (p.Asn1435Ser)
NM_031935.3(HMCN1):c.4313G>T (p.Gly1438Val)
NM_031935.3(HMCN1):c.4328A>G (p.Tyr1443Cys)
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu) rs886045669
NM_031935.3(HMCN1):c.4358C>A (p.Thr1453Asn)
NM_031935.3(HMCN1):c.4369A>G (p.Thr1457Ala)
NM_031935.3(HMCN1):c.4394T>G (p.Val1465Gly)
NM_031935.3(HMCN1):c.4414G>A (p.Ala1472Thr)
NM_031935.3(HMCN1):c.4435G>C (p.Gly1479Arg)
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=) rs767657987
NM_031935.3(HMCN1):c.446A>T (p.Asp149Val)
NM_031935.3(HMCN1):c.4475A>G (p.Lys1492Arg)
NM_031935.3(HMCN1):c.4481T>C (p.Leu1494Ser)
NM_031935.3(HMCN1):c.4493A>C (p.Asp1498Ala)
NM_031935.3(HMCN1):c.4494T>G (p.Asp1498Glu)
NM_031935.3(HMCN1):c.4499A>T (p.Asn1500Ile)
NM_031935.3(HMCN1):c.4510C>G (p.Leu1504Val)
NM_031935.3(HMCN1):c.4511del (p.Leu1504fs) rs1558137982
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
NM_031935.3(HMCN1):c.4520G>C (p.Gly1507Ala)
NM_031935.3(HMCN1):c.4523A>G (p.Gln1508Arg)
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
NM_031935.3(HMCN1):c.4558A>C (p.Lys1520Gln)
NM_031935.3(HMCN1):c.4574G>A (p.Cys1525Tyr)
NM_031935.3(HMCN1):c.4576A>T (p.Thr1526Ser)
NM_031935.3(HMCN1):c.4583C>T (p.Ser1528Phe)
NM_031935.3(HMCN1):c.4624A>G (p.Ile1542Val) rs2102095661
NM_031935.3(HMCN1):c.4629T>C (p.Tyr1543=)
NM_031935.3(HMCN1):c.462T>A (p.His154Gln)
NM_031935.3(HMCN1):c.4641T>A (p.Ser1547Arg)
NM_031935.3(HMCN1):c.4657G>A (p.Val1553Ile)
NM_031935.3(HMCN1):c.4667A>G (p.Asp1556Gly)
NM_031935.3(HMCN1):c.4673C>A (p.Ser1558Ter) rs483352757
NM_031935.3(HMCN1):c.4681A>G (p.Ile1561Val)
NM_031935.3(HMCN1):c.4703A>C (p.Glu1568Ala)
NM_031935.3(HMCN1):c.4714C>T (p.Arg1572Trp)
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
NM_031935.3(HMCN1):c.4733C>A (p.Ala1578Asp)
NM_031935.3(HMCN1):c.4738A>G (p.Thr1580Ala)
NM_031935.3(HMCN1):c.4752C>A (p.Asp1584Glu)
NM_031935.3(HMCN1):c.4753G>A (p.Gly1585Arg)
NM_031935.3(HMCN1):c.4767G>T (p.Met1589Ile)
NM_031935.3(HMCN1):c.4778A>C (p.Gln1593Pro)
NM_031935.3(HMCN1):c.4781C>T (p.Ala1594Val)
NM_031935.3(HMCN1):c.4787A>T (p.Tyr1596Phe)
NM_031935.3(HMCN1):c.4796_4798del (p.Lys1599_Gly1600delinsArg)
NM_031935.3(HMCN1):c.479T>C (p.Ile160Thr)
NM_031935.3(HMCN1):c.4801C>A (p.Gln1601Lys) rs921020423
NM_031935.3(HMCN1):c.4805A>G (p.Tyr1602Cys)
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
NM_031935.3(HMCN1):c.4819C>G (p.Arg1607Gly)
NM_031935.3(HMCN1):c.4820G>A (p.Arg1607Gln)
NM_031935.3(HMCN1):c.4832C>G (p.Ser1611Cys)
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
NM_031935.3(HMCN1):c.4857_4858inv (p.Val1620Ile)
NM_031935.3(HMCN1):c.4859T>C (p.Val1620Ala)
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys) rs765224895
NM_031935.3(HMCN1):c.4896T>C (p.His1632=) rs377764090
NM_031935.3(HMCN1):c.4909+6G>A
NM_031935.3(HMCN1):c.490C>T (p.Gln164Ter)
NM_031935.3(HMCN1):c.4910T>G (p.Val1637Gly)
NM_031935.3(HMCN1):c.4919T>C (p.Met1640Thr)
NM_031935.3(HMCN1):c.4927G>C (p.Gly1643Arg)
NM_031935.3(HMCN1):c.4933T>G (p.Leu1645Val)
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
NM_031935.3(HMCN1):c.4939A>G (p.Thr1647Ala)
NM_031935.3(HMCN1):c.4957G>A (p.Val1653Ile)
NM_031935.3(HMCN1):c.4961T>C (p.Val1654Ala)
NM_031935.3(HMCN1):c.4965T>G (p.Ile1655Met)
NM_031935.3(HMCN1):c.498+10A>T
NM_031935.3(HMCN1):c.4997del (p.Ala1666fs)
NM_031935.3(HMCN1):c.5003A>T (p.Asn1668Ile)
NM_031935.3(HMCN1):c.502G>A (p.Val168Ile)
NM_031935.3(HMCN1):c.502G>T (p.Val168Leu)
NM_031935.3(HMCN1):c.5041C>T (p.Pro1681Ser)
NM_031935.3(HMCN1):c.5057A>G (p.Asp1686Gly)
NM_031935.3(HMCN1):c.5060A>G (p.Asn1687Ser)
NM_031935.3(HMCN1):c.5061T>G (p.Asn1687Lys)
NM_031935.3(HMCN1):c.5065C>T (p.Arg1689Cys)
NM_031935.3(HMCN1):c.5066G>A (p.Arg1689His)
NM_031935.3(HMCN1):c.5066G>T (p.Arg1689Leu)
NM_031935.3(HMCN1):c.5078G>C (p.Gly1693Ala)
NM_031935.3(HMCN1):c.508G>A (p.Val170Ile)
NM_031935.3(HMCN1):c.5092G>A (p.Glu1698Lys)
NM_031935.3(HMCN1):c.50A>T (p.Tyr17Phe)
NM_031935.3(HMCN1):c.5126A>T (p.Gln1709Leu)
NM_031935.3(HMCN1):c.5132T>C (p.Ile1711Thr)
NM_031935.3(HMCN1):c.514A>T (p.Thr172Ser) rs2102358412
NM_031935.3(HMCN1):c.5171A>G (p.Lys1724Arg) rs540910084
NM_031935.3(HMCN1):c.5190G>T (p.Leu1730Phe) rs140707354
NM_031935.3(HMCN1):c.5222C>T (p.Thr1741Ile)
NM_031935.3(HMCN1):c.5236G>C (p.Val1746Leu)
NM_031935.3(HMCN1):c.5236G>T (p.Val1746Leu)
NM_031935.3(HMCN1):c.5243T>C (p.Val1748Ala)
NM_031935.3(HMCN1):c.5276C>A (p.Thr1759Lys)
NM_031935.3(HMCN1):c.5290C>T (p.Pro1764Ser)
NM_031935.3(HMCN1):c.5294C>T (p.Thr1765Ile)
NM_031935.3(HMCN1):c.5300+17G>A
NM_031935.3(HMCN1):c.5300+6G>C
NM_031935.3(HMCN1):c.5300+7G>T rs367562861
NM_031935.3(HMCN1):c.5301-3T>C
NM_031935.3(HMCN1):c.5318del (p.Gln1773fs)
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val) rs376847972
NM_031935.3(HMCN1):c.5329G>A (p.Glu1777Lys)
NM_031935.3(HMCN1):c.5335G>C (p.Asp1779His)
NM_031935.3(HMCN1):c.5343C>A (p.Phe1781Leu)
NM_031935.3(HMCN1):c.5346G>C (p.Lys1782Asn)
NM_031935.3(HMCN1):c.5346G>T (p.Lys1782Asn)
NM_031935.3(HMCN1):c.5363G>A (p.Arg1788His)
NM_031935.3(HMCN1):c.5389G>C (p.Val1797Leu)
NM_031935.3(HMCN1):c.5410C>T (p.Arg1804Trp) rs771121234
NM_031935.3(HMCN1):c.5414G>A (p.Cys1805Tyr)
NM_031935.3(HMCN1):c.5437G>A (p.Asp1813Asn)
NM_031935.3(HMCN1):c.5447A>G (p.Lys1816Arg)
NM_031935.3(HMCN1):c.5462C>A (p.Thr1821Asn)
NM_031935.3(HMCN1):c.5462C>T (p.Thr1821Ile)
NM_031935.3(HMCN1):c.5464G>C (p.Val1822Leu)
NM_031935.3(HMCN1):c.5469T>C (p.His1823=)
NM_031935.3(HMCN1):c.5480C>A (p.Thr1827Lys)
NM_031935.3(HMCN1):c.5504A>G (p.Glu1835Gly)
NM_031935.3(HMCN1):c.5515G>C (p.Val1839Leu)
NM_031935.3(HMCN1):c.5524A>C (p.Lys1842Gln)
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys) rs756344375
NM_031935.3(HMCN1):c.5546T>C (p.Ile1849Thr)
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
NM_031935.3(HMCN1):c.5560C>T (p.Pro1854Ser)
NM_031935.3(HMCN1):c.5578T>C (p.Trp1860Arg)
NM_031935.3(HMCN1):c.5584A>G (p.Lys1862Glu)
NM_031935.3(HMCN1):c.5605A>G (p.Thr1869Ala)
NM_031935.3(HMCN1):c.5614G>A (p.Gly1872Arg)
NM_031935.3(HMCN1):c.5620_5622del (p.Leu1874del)
NM_031935.3(HMCN1):c.5623A>G (p.Lys1875Glu)
NM_031935.3(HMCN1):c.5632T>A (p.Ser1878Thr)
NM_031935.3(HMCN1):c.5641C>T (p.Arg1881Ter)
NM_031935.3(HMCN1):c.5642G>A (p.Arg1881Gln)
NM_031935.3(HMCN1):c.5685A>T (p.Arg1895Ser)
NM_031935.3(HMCN1):c.5687A>G (p.Tyr1896Cys)
NM_031935.3(HMCN1):c.5716G>C (p.Glu1906Gln)
NM_031935.3(HMCN1):c.5736A>T (p.Gln1912His)
NM_031935.3(HMCN1):c.5750-12G>A
NM_031935.3(HMCN1):c.5750-2A>G
NM_031935.3(HMCN1):c.5755C>T (p.Pro1919Ser)
NM_031935.3(HMCN1):c.5771C>G (p.Ala1924Gly)
NM_031935.3(HMCN1):c.5807A>G (p.Asn1936Ser)
NM_031935.3(HMCN1):c.5808C>A (p.Asn1936Lys)
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=) rs1655949105
NM_031935.3(HMCN1):c.5837G>T (p.Gly1946Val)
NM_031935.3(HMCN1):c.5851+5A>C
NM_031935.3(HMCN1):c.5852-1G>A rs886045673
NM_031935.3(HMCN1):c.5879T>C (p.Leu1960Pro)
NM_031935.3(HMCN1):c.5905T>C (p.Phe1969Leu)
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
NM_031935.3(HMCN1):c.5933T>C (p.Ile1978Thr)
NM_031935.3(HMCN1):c.5941G>A (p.Ala1981Thr)
NM_031935.3(HMCN1):c.59T>C (p.Leu20Pro)
NM_031935.3(HMCN1):c.601G>A (p.Asp201Asn)
NM_031935.3(HMCN1):c.6021A>C (p.Gln2007His)
NM_031935.3(HMCN1):c.6022G>T (p.Val2008Phe)
NM_031935.3(HMCN1):c.6029-3C>T
NM_031935.3(HMCN1):c.6029-8T>A
NM_031935.3(HMCN1):c.6032C>A (p.Ala2011Asp)
NM_031935.3(HMCN1):c.6061G>A (p.Val2021Met)
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=) rs886045674
NM_031935.3(HMCN1):c.6082C>T (p.Pro2028Ser)
NM_031935.3(HMCN1):c.6083C>T (p.Pro2028Leu)
NM_031935.3(HMCN1):c.6140A>G (p.Lys2047Arg) rs2102231427
NM_031935.3(HMCN1):c.6152del (p.Pro2051fs)
NM_031935.3(HMCN1):c.6181G>A (p.Val2061Ile)
NM_031935.3(HMCN1):c.6204A>G (p.Leu2068=)
NM_031935.3(HMCN1):c.6208T>A (p.Leu2070Met)
NM_031935.3(HMCN1):c.621+3C>T
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys) rs200822474
NM_031935.3(HMCN1):c.6220C>G (p.Gln2074Glu) rs200822474
NM_031935.3(HMCN1):c.6227G>A (p.Ser2076Asn)
NM_031935.3(HMCN1):c.6229G>A (p.Asp2077Asn)
NM_031935.3(HMCN1):c.6229G>T (p.Asp2077Tyr)
NM_031935.3(HMCN1):c.6239G>A (p.Arg2080Lys)
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
NM_031935.3(HMCN1):c.6251T>A (p.Val2084Glu)
NM_031935.3(HMCN1):c.6286A>G (p.Ile2096Val)
NM_031935.3(HMCN1):c.62C>T (p.Ala21Val)
NM_031935.3(HMCN1):c.6304+13A>G
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=) rs367790421
NM_031935.3(HMCN1):c.6313A>G (p.Asn2105Asp)
NM_031935.3(HMCN1):c.6316A>G (p.Ile2106Val)
NM_031935.3(HMCN1):c.6325GAA[1] (p.Glu2110del)
NM_031935.3(HMCN1):c.6335A>G (p.Asn2112Ser) rs1656519065
NM_031935.3(HMCN1):c.6349A>C (p.Ile2117Leu)
NM_031935.3(HMCN1):c.6361G>A (p.Val2121Met)
NM_031935.3(HMCN1):c.6370C>A (p.Leu2124Ile)
NM_031935.3(HMCN1):c.6377A>C (p.Gln2126Pro)
NM_031935.3(HMCN1):c.6380G>A (p.Ser2127Asn)
NM_031935.3(HMCN1):c.6386C>T (p.Ala2129Val)
NM_031935.3(HMCN1):c.6422G>C (p.Gly2141Ala)
NM_031935.3(HMCN1):c.6448C>T (p.Leu2150Phe)
NM_031935.3(HMCN1):c.6454A>G (p.Ile2152Val)
NM_031935.3(HMCN1):c.6470G>T (p.Ser2157Ile)
NM_031935.3(HMCN1):c.647_652del (p.Val216_Gln217del)
NM_031935.3(HMCN1):c.6500A>G (p.Gln2167Arg) rs2102263582
NM_031935.3(HMCN1):c.6512G>A (p.Arg2171His)
NM_031935.3(HMCN1):c.6526G>A (p.Ala2176Thr)
NM_031935.3(HMCN1):c.6553A>G (p.Lys2185Glu)
NM_031935.3(HMCN1):c.6554A>G (p.Lys2185Arg)
NM_031935.3(HMCN1):c.6560A>T (p.Tyr2187Phe)
NM_031935.3(HMCN1):c.6562A>G (p.Asn2188Asp)
NM_031935.3(HMCN1):c.6568A>G (p.Asn2190Asp)
NM_031935.3(HMCN1):c.6574T>C (p.Trp2192Arg)
NM_031935.3(HMCN1):c.6578T>C (p.Val2193Ala)
NM_031935.3(HMCN1):c.6581C>T (p.Pro2194Leu)
NM_031935.3(HMCN1):c.6604G>T (p.Glu2202Ter)
NM_031935.3(HMCN1):c.6607C>T (p.Leu2203Phe) rs1397176102
NM_031935.3(HMCN1):c.6611C>T (p.Thr2204Ile)
NM_031935.3(HMCN1):c.6623T>A (p.Val2208Asp)
NM_031935.3(HMCN1):c.6679A>G (p.Asn2227Asp)
NM_031935.3(HMCN1):c.667C>A (p.Leu223Ile)
NM_031935.3(HMCN1):c.6682C>T (p.Leu2228Phe)
NM_031935.3(HMCN1):c.6701-17T>G
NM_031935.3(HMCN1):c.6704C>T (p.Ser2235Phe)
NM_031935.3(HMCN1):c.6727G>A (p.Gly2243Arg)
NM_031935.3(HMCN1):c.6727G>C (p.Gly2243Arg)
NM_031935.3(HMCN1):c.6730C>T (p.Arg2244Ter)
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
NM_031935.3(HMCN1):c.6751G>A (p.Gly2251Ser)
NM_031935.3(HMCN1):c.6799T>C (p.Tyr2267His)
NM_031935.3(HMCN1):c.6812C>T (p.Ala2271Val)
NM_031935.3(HMCN1):c.6850C>G (p.Leu2284Val)
NM_031935.3(HMCN1):c.6863-6C>A
NM_031935.3(HMCN1):c.6874A>G (p.Ile2292Val)
NM_031935.3(HMCN1):c.6887G>T (p.Gly2296Val)
NM_031935.3(HMCN1):c.688G>T (p.Glu230Ter)
NM_031935.3(HMCN1):c.6893A>G (p.His2298Arg)
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=) rs764699819
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
NM_031935.3(HMCN1):c.694G>A (p.Ala232Thr)
NM_031935.3(HMCN1):c.6967A>T (p.Thr2323Ser) rs1571788821
NM_031935.3(HMCN1):c.697G>A (p.Val233Ile)
NM_031935.3(HMCN1):c.697G>C (p.Val233Leu) rs540097337
NM_031935.3(HMCN1):c.6986A>T (p.Asp2329Val)
NM_031935.3(HMCN1):c.6993C>A (p.His2331Gln)
NM_031935.3(HMCN1):c.6995C>G (p.Pro2332Arg)
NM_031935.3(HMCN1):c.7004A>G (p.Lys2335Arg)
NM_031935.3(HMCN1):c.700A>G (p.Asn234Asp)
NM_031935.3(HMCN1):c.7040T>A (p.Ile2347Asn)
NM_031935.3(HMCN1):c.7042C>T (p.Leu2348Phe)
NM_031935.3(HMCN1):c.706T>C (p.Trp236Arg) rs2102450858
NM_031935.3(HMCN1):c.708G>C (p.Trp236Cys)
NM_031935.3(HMCN1):c.709_710inv (p.Arg237Leu)
NM_031935.3(HMCN1):c.7109G>A (p.Gly2370Glu)
NM_031935.3(HMCN1):c.7126T>C (p.Tyr2376His)
NM_031935.3(HMCN1):c.7141C>T (p.His2381Tyr)
NM_031935.3(HMCN1):c.7144+5G>A
NM_031935.3(HMCN1):c.7178C>T (p.Pro2393Leu)
NM_031935.3(HMCN1):c.7187T>C (p.Ile2396Thr)
NM_031935.3(HMCN1):c.7190G>T (p.Ser2397Ile)
NM_031935.3(HMCN1):c.7192G>A (p.Val2398Met)
NM_031935.3(HMCN1):c.720T>G (p.Phe240Leu)
NM_031935.3(HMCN1):c.7210G>C (p.Val2404Leu)
NM_031935.3(HMCN1):c.7235G>A (p.Gly2412Glu)
NM_031935.3(HMCN1):c.7241C>T (p.Pro2414Leu)
NM_031935.3(HMCN1):c.7255A>G (p.Thr2419Ala) rs776278874
NM_031935.3(HMCN1):c.7255A>T (p.Thr2419Ser)
NM_031935.3(HMCN1):c.7301G>C (p.Arg2434Thr)
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn)
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro) rs886045675
NM_031935.3(HMCN1):c.7311A>G (p.Ser2437=)
NM_031935.3(HMCN1):c.7328G>A (p.Arg2443Gln)
NM_031935.3(HMCN1):c.7333A>T (p.Met2445Leu) rs1303616081
NM_031935.3(HMCN1):c.7347G>T (p.Met2449Ile)
NM_031935.3(HMCN1):c.7360C>A (p.Gln2454Lys)
NM_031935.3(HMCN1):c.7372G>A (p.Val2458Ile)
NM_031935.3(HMCN1):c.7397A>G (p.Glu2466Gly)
NM_031935.3(HMCN1):c.7406T>C (p.Ile2469Thr)
NM_031935.3(HMCN1):c.7407C>G (p.Ile2469Met)
NM_031935.3(HMCN1):c.7423T>G (p.Leu2475Val)
NM_031935.3(HMCN1):c.7426+5T>C
NM_031935.3(HMCN1):c.7427-6T>G
NM_031935.3(HMCN1):c.7429C>T (p.Pro2477Ser)
NM_031935.3(HMCN1):c.7437T>A (p.His2479Gln)
NM_031935.3(HMCN1):c.7439T>C (p.Ile2480Thr)
NM_031935.3(HMCN1):c.7444G>C (p.Gly2482Arg)
NM_031935.3(HMCN1):c.7451dup (p.Asn2484fs) rs745754104
NM_031935.3(HMCN1):c.7486_7487del (p.Ser2496fs)
NM_031935.3(HMCN1):c.7488T>G (p.Ser2496Arg)
NM_031935.3(HMCN1):c.7492A>C (p.Thr2498Pro)
NM_031935.3(HMCN1):c.7493C>T (p.Thr2498Met)
NM_031935.3(HMCN1):c.7513+6G>A
NM_031935.3(HMCN1):c.7546_7547delinsAT (p.Asp2516Ile) rs2102325370
NM_031935.3(HMCN1):c.7555C>G (p.Pro2519Ala)
NM_031935.3(HMCN1):c.7558C>T (p.Leu2520Phe)
NM_031935.3(HMCN1):c.7562A>G (p.Gln2521Arg)
NM_031935.3(HMCN1):c.7585A>G (p.Ile2529Val)
NM_031935.3(HMCN1):c.7585A>T (p.Ile2529Leu)
NM_031935.3(HMCN1):c.7612A>T (p.Thr2538Ser)
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp) rs1335242665
NM_031935.3(HMCN1):c.7617T>A (p.Asn2539Lys)
NM_031935.3(HMCN1):c.7625_7626del (p.Val2542fs)
NM_031935.3(HMCN1):c.7645A>T (p.Thr2549Ser)
NM_031935.3(HMCN1):c.7685G>A (p.Ser2562Asn)
NM_031935.3(HMCN1):c.7690A>G (p.Ser2564Gly)
NM_031935.3(HMCN1):c.7699G>A (p.Val2567Ile)
NM_031935.3(HMCN1):c.76C>T (p.Pro26Ser)
NM_031935.3(HMCN1):c.7700T>G (p.Val2567Gly)
NM_031935.3(HMCN1):c.7705+2T>G rs2102326135
NM_031935.3(HMCN1):c.7711C>G (p.Pro2571Ala) rs2102333727
NM_031935.3(HMCN1):c.771G>T (p.Met257Ile)
NM_031935.3(HMCN1):c.7730G>T (p.Gly2577Val)
NM_031935.3(HMCN1):c.7733G>A (p.Ser2578Asn)
NM_031935.3(HMCN1):c.7738G>A (p.Gly2580Ser)
NM_031935.3(HMCN1):c.7773C>G (p.Ser2591Arg)
NM_031935.3(HMCN1):c.7775C>T (p.Pro2592Leu)
NM_031935.3(HMCN1):c.7780T>C (p.Ser2594Pro)
NM_031935.3(HMCN1):c.7807C>T (p.Pro2603Ser)
NM_031935.3(HMCN1):c.7810C>G (p.Pro2604Ala)
NM_031935.3(HMCN1):c.7816A>G (p.Thr2606Ala)
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
NM_031935.3(HMCN1):c.782G>A (p.Arg261His) rs753817944
NM_031935.3(HMCN1):c.782G>T (p.Arg261Leu)
NM_031935.3(HMCN1):c.7853C>A (p.Ser2618Tyr)
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
NM_031935.3(HMCN1):c.7867C>A (p.Arg2623Ser) rs564245563
NM_031935.3(HMCN1):c.7868G>A (p.Arg2623His)
NM_031935.3(HMCN1):c.7873C>A (p.Leu2625Ile)
NM_031935.3(HMCN1):c.7879+19A>G
NM_031935.3(HMCN1):c.787C>G (p.Pro263Ala)
NM_031935.3(HMCN1):c.7903A>G (p.Asn2635Asp)
NM_031935.3(HMCN1):c.7910A>G (p.Gln2637Arg)
NM_031935.3(HMCN1):c.7910A>T (p.Gln2637Leu) rs760728428
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser) rs1658366937
NM_031935.3(HMCN1):c.793+3G>A rs752950964
NM_031935.3(HMCN1):c.7937G>A (p.Cys2646Tyr)
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
NM_031935.3(HMCN1):c.7999C>T (p.Pro2667Ser)
NM_031935.3(HMCN1):c.79C>G (p.Gln27Glu)
NM_031935.3(HMCN1):c.8008A>G (p.Asn2670Asp)
NM_031935.3(HMCN1):c.8009A>C (p.Asn2670Thr)
NM_031935.3(HMCN1):c.8017G>T (p.Asp2673Tyr)
NM_031935.3(HMCN1):c.8029C>T (p.Pro2677Ser)
NM_031935.3(HMCN1):c.804A>G (p.Ile268Met)
NM_031935.3(HMCN1):c.8093C>T (p.Ala2698Val)
NM_031935.3(HMCN1):c.8095T>A (p.Tyr2699Asn)
NM_031935.3(HMCN1):c.8098G>A (p.Ala2700Thr)
NM_031935.3(HMCN1):c.8119A>G (p.Ser2707Gly)
NM_031935.3(HMCN1):c.811G>A (p.Gly271Arg)
NM_031935.3(HMCN1):c.8123G>T (p.Trp2708Leu)
NM_031935.3(HMCN1):c.8126A>T (p.Tyr2709Phe) rs2102343287
NM_031935.3(HMCN1):c.8139+4A>G
NM_031935.3(HMCN1):c.8140C>A (p.Pro2714Thr)
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
NM_031935.3(HMCN1):c.814T>G (p.Phe272Val)
NM_031935.3(HMCN1):c.8180G>A (p.Gly2727Glu)
NM_031935.3(HMCN1):c.8188C>T (p.Leu2730Phe)
NM_031935.3(HMCN1):c.8204C>G (p.Ala2735Gly)
NM_031935.3(HMCN1):c.8218A>T (p.Thr2740Ser)
NM_031935.3(HMCN1):c.8221G>A (p.Gly2741Arg)
NM_031935.3(HMCN1):c.8227T>C (p.Tyr2743His)
NM_031935.3(HMCN1):c.8239G>A (p.Ala2747Thr)
NM_031935.3(HMCN1):c.8240C>T (p.Ala2747Val)
NM_031935.3(HMCN1):c.8290+1G>A
NM_031935.3(HMCN1):c.8291-10T>G
NM_031935.3(HMCN1):c.8300G>A (p.Ser2767Asn)
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
NM_031935.3(HMCN1):c.8329A>G (p.Met2777Val)
NM_031935.3(HMCN1):c.8335G>C (p.Asp2779His)
NM_031935.3(HMCN1):c.8342G>A (p.Gly2781Asp)
NM_031935.3(HMCN1):c.835A>G (p.Asn279Asp)
NM_031935.3(HMCN1):c.8362G>A (p.Asp2788Asn)
NM_031935.3(HMCN1):c.838A>G (p.Ile280Val)
NM_031935.3(HMCN1):c.8392T>G (p.Tyr2798Asp)
NM_031935.3(HMCN1):c.8410G>A (p.Ala2804Thr)
NM_031935.3(HMCN1):c.8414C>G (p.Pro2805Arg)
NM_031935.3(HMCN1):c.8423C>T (p.Thr2808Ile)
NM_031935.3(HMCN1):c.8429C>T (p.Thr2810Ile)
NM_031935.3(HMCN1):c.8448C>G (p.His2816Gln)
NM_031935.3(HMCN1):c.8462G>T (p.Ser2821Ile)
NM_031935.3(HMCN1):c.8464_8471del (p.Asp2822fs)
NM_031935.3(HMCN1):c.8470G>A (p.Val2824Ile) rs2102362166
NM_031935.3(HMCN1):c.8474T>G (p.Leu2825Trp)
NM_031935.3(HMCN1):c.8483C>G (p.Pro2828Arg)
NM_031935.3(HMCN1):c.8492G>A (p.Arg2831Gln)
NM_031935.3(HMCN1):c.8501A>G (p.Gln2834Arg)
NM_031935.3(HMCN1):c.850G>A (p.Ala284Thr)
NM_031935.3(HMCN1):c.8510G>A (p.Arg2837Gln)
NM_031935.3(HMCN1):c.8536T>C (p.Tyr2846His)
NM_031935.3(HMCN1):c.8543G>A (p.Cys2848Tyr) rs2102367466
NM_031935.3(HMCN1):c.8548G>T (p.Ala2850Ser)
NM_031935.3(HMCN1):c.8549C>T (p.Ala2850Val)
NM_031935.3(HMCN1):c.8551G>T (p.Val2851Leu)
NM_031935.3(HMCN1):c.8559G>T (p.Glu2853Asp)
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
NM_031935.3(HMCN1):c.8581T>C (p.Tyr2861His)
NM_031935.3(HMCN1):c.8582A>G (p.Tyr2861Cys) rs2102367665
NM_031935.3(HMCN1):c.8585A>G (p.Asp2862Gly)
NM_031935.3(HMCN1):c.8598C>T (p.Leu2866=)
NM_031935.3(HMCN1):c.8599+6T>C
NM_031935.3(HMCN1):c.8599G>C (p.Val2867Leu) rs772584982
NM_031935.3(HMCN1):c.8600-14C>G rs1254696195
NM_031935.3(HMCN1):c.8613C>G (p.Ile2871Met)
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu) rs1659149388
NM_031935.3(HMCN1):c.8621C>A (p.Ala2874Glu)
NM_031935.3(HMCN1):c.8629G>A (p.Asp2877Asn)
NM_031935.3(HMCN1):c.8635C>T (p.Pro2879Ser)
NM_031935.3(HMCN1):c.8662A>G (p.Lys2888Glu)
NM_031935.3(HMCN1):c.8669C>A (p.Ala2890Glu)
NM_031935.3(HMCN1):c.8714C>T (p.Ser2905Phe)
NM_031935.3(HMCN1):c.8735C>T (p.Pro2912Leu)
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe) rs1659158548
NM_031935.3(HMCN1):c.8749G>A (p.Asp2917Asn)
NM_031935.3(HMCN1):c.874C>A (p.Pro292Thr)
NM_031935.3(HMCN1):c.8750A>G (p.Asp2917Gly)
NM_031935.3(HMCN1):c.8779A>T (p.Ile2927Phe)
NM_031935.3(HMCN1):c.8785C>G (p.Gln2929Glu)
NM_031935.3(HMCN1):c.8787+3A>G
NM_031935.3(HMCN1):c.8787G>C (p.Gln2929His)
NM_031935.3(HMCN1):c.878A>C (p.Glu293Ala) rs2102455477
NM_031935.3(HMCN1):c.8812A>G (p.Ile2938Val)
NM_031935.3(HMCN1):c.8813T>A (p.Ile2938Asn)
NM_031935.3(HMCN1):c.8816G>A (p.Gly2939Asp)
NM_031935.3(HMCN1):c.8820G>A (p.Arg2940=)
NM_031935.3(HMCN1):c.8822A>G (p.Tyr2941Cys)
NM_031935.3(HMCN1):c.8828G>A (p.Cys2943Tyr)
NM_031935.3(HMCN1):c.8833G>A (p.Ala2945Thr)
NM_031935.3(HMCN1):c.8842A>G (p.Thr2948Ala)
NM_031935.3(HMCN1):c.8843C>T (p.Thr2948Ile)
NM_031935.3(HMCN1):c.8848G>C (p.Gly2950Arg)
NM_031935.3(HMCN1):c.8872C>T (p.Leu2958Phe)
NM_031935.3(HMCN1):c.8875A>C (p.Asn2959His)
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
NM_031935.3(HMCN1):c.8887C>A (p.Pro2963Thr)
NM_031935.3(HMCN1):c.8901_8919del (p.Gly2968fs)
NM_031935.3(HMCN1):c.8905C>T (p.Pro2969Ser)
NM_031935.3(HMCN1):c.8924C>T (p.Thr2975Ile)
NM_031935.3(HMCN1):c.8926G>A (p.Val2976Ile)
NM_031935.3(HMCN1):c.8939A>G (p.Asn2980Ser)
NM_031935.3(HMCN1):c.8959G>A (p.Glu2987Lys)
NM_031935.3(HMCN1):c.8969G>T (p.Gly2990Val)
NM_031935.3(HMCN1):c.89T>A (p.Ile30Asn)
NM_031935.3(HMCN1):c.8C>A (p.Ser3Tyr)
NM_031935.3(HMCN1):c.9016A>G (p.Lys3006Glu)
NM_031935.3(HMCN1):c.9020T>A (p.Leu3007Gln)
NM_031935.3(HMCN1):c.9034C>A (p.Leu3012Ile) rs267598234
NM_031935.3(HMCN1):c.9035T>C (p.Leu3012Pro)
NM_031935.3(HMCN1):c.9043C>T (p.Pro3015Ser)
NM_031935.3(HMCN1):c.9046+5G>A
NM_031935.3(HMCN1):c.9049G>C (p.Gly3017Arg)
NM_031935.3(HMCN1):c.9055A>C (p.Thr3019Pro)
NM_031935.3(HMCN1):c.9070C>T (p.Arg3024Trp)
NM_031935.3(HMCN1):c.9089G>A (p.Gly3030Asp)
NM_031935.3(HMCN1):c.9095A>C (p.Glu3032Ala)
NM_031935.3(HMCN1):c.9100A>C (p.Thr3034Pro)
NM_031935.3(HMCN1):c.9101C>T (p.Thr3034Ile)
NM_031935.3(HMCN1):c.9106A>G (p.Ile3036Val)
NM_031935.3(HMCN1):c.9113T>A (p.Ile3038Asn)
NM_031935.3(HMCN1):c.9131G>A (p.Ser3044Asn)
NM_031935.3(HMCN1):c.9142T>C (p.Phe3048Leu)
NM_031935.3(HMCN1):c.9160+4C>T
NM_031935.3(HMCN1):c.9180C>A (p.Asp3060Glu)
NM_031935.3(HMCN1):c.9193T>C (p.Ser3065Pro)
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro) rs752694815
NM_031935.3(HMCN1):c.9224C>T (p.Thr3075Ile)
NM_031935.3(HMCN1):c.9239A>C (p.Glu3080Ala)
NM_031935.3(HMCN1):c.9253G>A (p.Ala3085Thr) rs377710966
NM_031935.3(HMCN1):c.9263C>G (p.Pro3088Arg)
NM_031935.3(HMCN1):c.9281A>G (p.Tyr3094Cys)
NM_031935.3(HMCN1):c.9286A>G (p.Asn3096Asp)
NM_031935.3(HMCN1):c.9287A>C (p.Asn3096Thr)
NM_031935.3(HMCN1):c.928C>T (p.Arg310Cys)
NM_031935.3(HMCN1):c.9292C>T (p.Arg3098Trp) rs1002862471
NM_031935.3(HMCN1):c.9293G>A (p.Arg3098Gln)
NM_031935.3(HMCN1):c.929G>A (p.Arg310His)
NM_031935.3(HMCN1):c.929G>T (p.Arg310Leu)
NM_031935.3(HMCN1):c.9302C>A (p.Thr3101Lys)
NM_031935.3(HMCN1):c.9314A>G (p.His3105Arg) rs371120895
NM_031935.3(HMCN1):c.9321G>T (p.Glu3107Asp)
NM_031935.3(HMCN1):c.9329C>G (p.Ala3110Gly)
NM_031935.3(HMCN1):c.9340A>T (p.Met3114Leu)
NM_031935.3(HMCN1):c.9341T>G (p.Met3114Arg)
NM_031935.3(HMCN1):c.9377G>T (p.Gly3126Val)
NM_031935.3(HMCN1):c.9385G>A (p.Val3129Ile) rs2102403123
NM_031935.3(HMCN1):c.9404T>C (p.Val3135Ala)
NM_031935.3(HMCN1):c.940C>T (p.Leu314Phe)
NM_031935.3(HMCN1):c.9412C>T (p.Arg3138Trp)
NM_031935.3(HMCN1):c.9413G>A (p.Arg3138Gln)
NM_031935.3(HMCN1):c.9419A>G (p.Asp3140Gly)
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe) rs192222844
NM_031935.3(HMCN1):c.9437A>G (p.Asn3146Ser)
NM_031935.3(HMCN1):c.9445+3G>A
NM_031935.3(HMCN1):c.9455G>C (p.Ser3152Thr)
NM_031935.3(HMCN1):c.9462A>T (p.Glu3154Asp)
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=) rs886045677
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
NM_031935.3(HMCN1):c.9491C>A (p.Thr3164Lys)
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
NM_031935.3(HMCN1):c.9503C>T (p.Pro3168Leu)
NM_031935.3(HMCN1):c.9538C>T (p.Pro3180Ser)
NM_031935.3(HMCN1):c.9545C>T (p.Thr3182Met)
NM_031935.3(HMCN1):c.9553T>C (p.Trp3185Arg)
NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys)
NM_031935.3(HMCN1):c.9572G>A (p.Arg3191His)
NM_031935.3(HMCN1):c.9572G>T (p.Arg3191Leu)
NM_031935.3(HMCN1):c.9576A>C (p.Ile3192=)
NM_031935.3(HMCN1):c.9597A>T (p.Glu3199Asp)
NM_031935.3(HMCN1):c.9604A>G (p.Ile3202Val)
NM_031935.3(HMCN1):c.9609G>T (p.Leu3203Phe) rs2102405405
NM_031935.3(HMCN1):c.9613G>A (p.Gly3205Arg)
NM_031935.3(HMCN1):c.9638G>A (p.Arg3213Gln)
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg) rs886045678
NM_031935.3(HMCN1):c.9727+1G>T
NM_031935.3(HMCN1):c.9730C>T (p.Pro3244Ser)
NM_031935.3(HMCN1):c.9745G>C (p.Gly3249Arg)
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
NM_031935.3(HMCN1):c.9793G>C (p.Glu3265Gln)
NM_031935.3(HMCN1):c.9800T>C (p.Val3267Ala)
NM_031935.3(HMCN1):c.9803G>A (p.Cys3268Tyr)
NM_031935.3(HMCN1):c.9807T>A (p.Asn3269Lys)
NM_031935.3(HMCN1):c.9839G>A (p.Trp3280Ter)
NM_031935.3(HMCN1):c.9857C>A (p.Pro3286His)
NM_031935.3(HMCN1):c.9878A>G (p.Glu3293Gly)
NM_031935.3(HMCN1):c.9916A>G (p.Ile3306Val)
NM_031935.3(HMCN1):c.9928C>G (p.Leu3310Val)
NM_031935.3(HMCN1):c.992T>C (p.Phe331Ser)
NM_031935.3(HMCN1):c.9935C>A (p.Ser3312Tyr)
NM_031935.3(HMCN1):c.9949T>C (p.Tyr3317His)
NM_031935.3(HMCN1):c.9970C>T (p.Pro3324Ser)

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