ClinVar Miner

List of variants reported as likely benign for Imerslund-Grasbeck syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 818
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721 0.00544
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189 0.00143
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398 0.00118
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His) rs140862613 0.00111
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) rs141489700 0.00083
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_030943.4(AMN):c.275C>T (p.Ser92Leu) rs144707331 0.00079
NM_001081.4(CUBN):c.3G>T (p.Met1Ile) rs11254385 0.00076
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) rs141819241 0.00063
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001081.4(CUBN):c.9236+8A>G rs372673718 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=) rs182162293 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp) rs151134377 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.9927C>G (p.Val3309=) rs202234356 0.00024
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu) rs140983139 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu) rs777560818 0.00016
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_030943.4(AMN):c.1086G>A (p.Ala362=) rs959195796 0.00014
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.1947+18G>A rs374436643 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.3084C>T (p.Ser1028=) rs775668389 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.7000+14T>A rs768710639 0.00010
NM_001081.4(CUBN):c.7211-17T>C rs770229291 0.00010
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) rs201002903 0.00010
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.3672+18A>C rs752240965 0.00009
NM_030943.4(AMN):c.345G>A (p.Pro115=) rs749947054 0.00009
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_030943.4(AMN):c.1258-8C>T rs750073599 0.00008
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=) rs775837120 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser) rs144565631 0.00005
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=) rs779269108 0.00005
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=) rs751019710 0.00005
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=) rs376662992 0.00005
NM_030943.4(AMN):c.175C>T (p.Leu59=) rs199629027 0.00005
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2256C>T (p.His752=) rs140150973 0.00004
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys) rs199835213 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=) rs375723034 0.00004
NM_001081.4(CUBN):c.5549-5C>T rs377583171 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7107G>A (p.Gly2369=) rs145537365 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.885C>T (p.Gly295=) rs776211726 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290 0.00004
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.10710A>G (p.Thr3570=) rs756639822 0.00003
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=) rs146137990 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.4169-16C>T rs779680778 0.00003
NM_001081.4(CUBN):c.4773C>T (p.Val1591=) rs368529044 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=) rs368934375 0.00003
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=) rs758743854 0.00003
NM_001081.4(CUBN):c.7026G>A (p.Gly2342=) rs370800945 0.00003
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=) rs748450206 0.00003
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=) rs143405367 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_001081.4(CUBN):c.1765+9G>A rs780944597 0.00002
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=) rs563089365 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.7218C>A (p.Ile2406=) rs369069102 0.00002
NM_001081.4(CUBN):c.7534-5A>G rs769047632 0.00002
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=) rs376007864 0.00001
NM_001081.4(CUBN):c.1111+12T>A rs772358097 0.00001
NM_001081.4(CUBN):c.1350C>T (p.Gly450=) rs770827241 0.00001
NM_001081.4(CUBN):c.1531-8A>G rs776677485 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.2446+18T>C rs756171220 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=) rs1479997421 0.00001
NM_001081.4(CUBN):c.4018-14C>A rs376137878 0.00001
NM_001081.4(CUBN):c.4696-18C>G rs745926280 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5556C>T (p.Gly1852=) rs1459051392 0.00001
NM_001081.4(CUBN):c.5709A>G (p.Gln1903=) rs1305422200 0.00001
NM_001081.4(CUBN):c.5757C>T (p.His1919=) rs79184887 0.00001
NM_001081.4(CUBN):c.6048C>T (p.Thr2016=) rs770723197 0.00001
NM_001081.4(CUBN):c.6366C>A (p.Val2122=) rs774532398 0.00001
NM_001081.4(CUBN):c.6821+20A>G rs753314241 0.00001
NM_001081.4(CUBN):c.720+12C>A rs888514621 0.00001
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) rs1199891308 0.00001
NM_001081.4(CUBN):c.795C>T (p.Asp265=) rs777864127 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8565C>T (p.Ser2855=) rs201227730 0.00001
NM_001081.4(CUBN):c.8739C>T (p.Ser2913=) rs140586269 0.00001
NM_001081.4(CUBN):c.9060C>T (p.Asn3020=) rs377526677 0.00001
NM_001081.4(CUBN):c.9237-10C>T rs768128551 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9816C>T (p.Thr3272=) rs750580951 0.00001
NM_030943.4(AMN):c.1200T>C (p.Ala400=) rs1410658337 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.296-10T>C rs1229295738 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.760+10C>T rs1312771036 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.10011A>G (p.Leu3337=)
NM_001081.4(CUBN):c.10032+9T>C
NM_001081.4(CUBN):c.10033-15C>T
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.1015+11G>A
NM_001081.4(CUBN):c.1015+17A>T
NM_001081.4(CUBN):c.1015+8C>T
NM_001081.4(CUBN):c.1016-14C>T
NM_001081.4(CUBN):c.1016-18G>A
NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
NM_001081.4(CUBN):c.1029C>T (p.Asp343=)
NM_001081.4(CUBN):c.10380C>T (p.Asn3460=)
NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
NM_001081.4(CUBN):c.10503A>G (p.Glu3501=)
NM_001081.4(CUBN):c.10524C>T (p.Pro3508=)
NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
NM_001081.4(CUBN):c.10680T>C (p.Asp3560=)
NM_001081.4(CUBN):c.10695C>G (p.Val3565=)
NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)
NM_001081.4(CUBN):c.10758C>T (p.Cys3586=)
NM_001081.4(CUBN):c.10764+11C>T rs2131299503
NM_001081.4(CUBN):c.10764+16A>G
NM_001081.4(CUBN):c.10765-10dup
NM_001081.4(CUBN):c.10765-18T>A
NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly) rs138044409
NM_001081.4(CUBN):c.1107T>A (p.Thr369=)
NM_001081.4(CUBN):c.1111+11A>G
NM_001081.4(CUBN):c.1185C>T (p.Leu395=)
NM_001081.4(CUBN):c.122+14T>C
NM_001081.4(CUBN):c.122+7A>G
NM_001081.4(CUBN):c.123-11G>T
NM_001081.4(CUBN):c.123-16C>T rs2281648
NM_001081.4(CUBN):c.123-4A>G
NM_001081.4(CUBN):c.1230+18C>G
NM_001081.4(CUBN):c.1230+20T>C
NM_001081.4(CUBN):c.1231-10T>C
NM_001081.4(CUBN):c.1231-9T>C
NM_001081.4(CUBN):c.1418-16A>T
NM_001081.4(CUBN):c.1479T>C (p.Gly493=)
NM_001081.4(CUBN):c.1530+14C>A
NM_001081.4(CUBN):c.1662T>A (p.Pro554=) rs2131296039
NM_001081.4(CUBN):c.1674C>T (p.Leu558=)
NM_001081.4(CUBN):c.1765+12C>A
NM_001081.4(CUBN):c.1766-10C>G rs2131869671
NM_001081.4(CUBN):c.1766-14C>T
NM_001081.4(CUBN):c.1788T>C (p.Gly596=)
NM_001081.4(CUBN):c.1833C>T (p.Pro611=) rs1215660752
NM_001081.4(CUBN):c.1887A>G (p.Thr629=) rs2131869453
NM_001081.4(CUBN):c.192A>G (p.Arg64=)
NM_001081.4(CUBN):c.1947+19A>G
NM_001081.4(CUBN):c.1948-7G>C
NM_001081.4(CUBN):c.1953A>C (p.Arg651=) rs2131865611
NM_001081.4(CUBN):c.1965G>A (p.Leu655=)
NM_001081.4(CUBN):c.2067G>A (p.Gln689=)
NM_001081.4(CUBN):c.2110+10C>A rs752409034
NM_001081.4(CUBN):c.2110+17T>C
NM_001081.4(CUBN):c.2111-19G>A
NM_001081.4(CUBN):c.2111-20C>T
NM_001081.4(CUBN):c.2111-5C>T
NM_001081.4(CUBN):c.2139G>A (p.Thr713=)
NM_001081.4(CUBN):c.2145A>G (p.Pro715=)
NM_001081.4(CUBN):c.2157C>G (p.Leu719=) rs2131863775
NM_001081.4(CUBN):c.2184C>T (p.Phe728=) rs1836051485
NM_001081.4(CUBN):c.2301+10A>T rs1371114573
NM_001081.4(CUBN):c.2343C>T (p.Asn781=)
NM_001081.4(CUBN):c.2349C>G (p.Thr783=)
NM_001081.4(CUBN):c.2446+14T>C
NM_001081.4(CUBN):c.2446+14_2446+15del rs752528712
NM_001081.4(CUBN):c.2446+9A>G
NM_001081.4(CUBN):c.2447-20T>G
NM_001081.4(CUBN):c.2447-9T>C
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
NM_001081.4(CUBN):c.2490T>A (p.Pro830=)
NM_001081.4(CUBN):c.2493T>C (p.Phe831=)
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
NM_001081.4(CUBN):c.253-16C>A
NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly) rs563114115
NM_001081.4(CUBN):c.2637T>C (p.Ser879=)
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2733G>T (p.Val911=)
NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
NM_001081.4(CUBN):c.2791+16dup
NM_001081.4(CUBN):c.2791+19T>C
NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser) rs200851536
NM_001081.4(CUBN):c.2985C>T (p.Thr995=)
NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
NM_001081.4(CUBN):c.3105C>T (p.Phe1035=) rs2131842230
NM_001081.4(CUBN):c.312A>G (p.Gln104=)
NM_001081.4(CUBN):c.3139+15T>C
NM_001081.4(CUBN):c.3329+12_3329+16del
NM_001081.4(CUBN):c.3329+8C>A
NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
NM_001081.4(CUBN):c.3477T>C (p.Asp1159=) rs2131820566
NM_001081.4(CUBN):c.348+18G>A
NM_001081.4(CUBN):c.349-13T>G
NM_001081.4(CUBN):c.3490+16C>G
NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3672+17C>T
NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
NM_001081.4(CUBN):c.3830-15C>T
NM_001081.4(CUBN):c.387+11dup
NM_001081.4(CUBN):c.387+16C>T rs766616600
NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
NM_001081.4(CUBN):c.4104G>T (p.Val1368=) rs1480495431
NM_001081.4(CUBN):c.4168+17T>A
NM_001081.4(CUBN):c.4169-13del
NM_001081.4(CUBN):c.4169-15T>C
NM_001081.4(CUBN):c.4169-17C>A
NM_001081.4(CUBN):c.4169-18A>G
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
NM_001081.4(CUBN):c.4302T>C (p.His1434=) rs2131715844
NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4350+8G>A
NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
NM_001081.4(CUBN):c.4526-10C>T
NM_001081.4(CUBN):c.4526-9C>A rs752803274
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) rs1588515934
NM_001081.4(CUBN):c.4855+20T>C
NM_001081.4(CUBN):c.4856-13G>C
NM_001081.4(CUBN):c.4856-16T>C rs2131629888
NM_001081.4(CUBN):c.4869C>T (p.His1623=)
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.490-8G>A
NM_001081.4(CUBN):c.4970-16C>T
NM_001081.4(CUBN):c.5022G>A (p.Thr1674=) rs528059511
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
NM_001081.4(CUBN):c.5080+11G>A
NM_001081.4(CUBN):c.5080+9_5080+19del
NM_001081.4(CUBN):c.5307C>T (p.Val1769=)
NM_001081.4(CUBN):c.5342+20G>A
NM_001081.4(CUBN):c.5343-10C>T
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-7dup rs754346653
NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
NM_001081.4(CUBN):c.5733+15G>A
NM_001081.4(CUBN):c.5733+9C>T
NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5927-14T>C
NM_001081.4(CUBN):c.5927-19G>A
NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
NM_001081.4(CUBN):c.594-16C>T
NM_001081.4(CUBN):c.594-18C>T rs1836875187
NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
NM_001081.4(CUBN):c.5979C>T (p.Ser1993=) rs2131594919
NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=) rs141470763
NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
NM_001081.4(CUBN):c.6118C>A (p.Arg2040=) rs770636895
NM_001081.4(CUBN):c.6125-4G>A
NM_001081.4(CUBN):c.615G>T (p.Thr205=)
NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
NM_001081.4(CUBN):c.6271+12A>G
NM_001081.4(CUBN):c.6272-8G>C
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
NM_001081.4(CUBN):c.6363C>T (p.His2121=)
NM_001081.4(CUBN):c.645C>T (p.Asp215=)
NM_001081.4(CUBN):c.6462+7C>T
NM_001081.4(CUBN):c.6463-4C>G rs2131581949
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=) rs2131479100
NM_001081.4(CUBN):c.6646+18G>T
NM_001081.4(CUBN):c.6647-19T>C
NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
NM_001081.4(CUBN):c.66T>C (p.Asn22=)
NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
NM_001081.4(CUBN):c.69C>T (p.Gly23=)
NM_001081.4(CUBN):c.7000+7A>T
NM_001081.4(CUBN):c.7001-19T>C
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
NM_001081.4(CUBN):c.720+20G>A
NM_001081.4(CUBN):c.720+8C>T
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg) rs41301097
NM_001081.4(CUBN):c.7352-6C>T
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=) rs201001705
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
NM_001081.4(CUBN):c.7533+16C>T
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=) rs1588639145
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
NM_001081.4(CUBN):c.7705+9G>A
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
NM_001081.4(CUBN):c.783G>A (p.Thr261=) rs770878354
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
NM_001081.4(CUBN):c.7912+14A>G
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
NM_001081.4(CUBN):c.8062+15T>C
NM_001081.4(CUBN):c.8062+8T>C
NM_001081.4(CUBN):c.8185-10T>C
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
NM_001081.4(CUBN):c.8410+16G>T
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
NM_001081.4(CUBN):c.8598+18T>C rs1841276791
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
NM_001081.4(CUBN):c.8756-18C>A
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
NM_001081.4(CUBN):c.884-8T>C
NM_001081.4(CUBN):c.8906-13dup
NM_001081.4(CUBN):c.8906-9C>T
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
NM_001081.4(CUBN):c.9237-6T>A
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=) rs2131367704
NM_001081.4(CUBN):c.9454+19T>G
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
NM_001081.4(CUBN):c.9663+13T>C
NM_001081.4(CUBN):c.9663+7C>T
NM_001081.4(CUBN):c.9664-16T>G rs2131320788
NM_001081.4(CUBN):c.9664-20T>C
NM_001081.4(CUBN):c.9664-8del
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
NM_001081.4(CUBN):c.9826+13A>G
NM_001081.4(CUBN):c.9827-20G>A
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=) rs375963302
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
NM_030943.4(AMN):c.1006+12C>G
NM_030943.4(AMN):c.1006+12_1006+35dup
NM_030943.4(AMN):c.1006+13G>A
NM_030943.4(AMN):c.1006+14C>T
NM_030943.4(AMN):c.1006+18_1006+27del
NM_030943.4(AMN):c.1006+23_1006+36del
NM_030943.4(AMN):c.1006+27C>T
NM_030943.4(AMN):c.1006+28G>T
NM_030943.4(AMN):c.1006+33G>A
NM_030943.4(AMN):c.1006+33G>T
NM_030943.4(AMN):c.1006+36_1007-34dup
NM_030943.4(AMN):c.1006+8C>A
NM_030943.4(AMN):c.1006+9G>A
NM_030943.4(AMN):c.1006+9G>T
NM_030943.4(AMN):c.1007-11C>G
NM_030943.4(AMN):c.1007-11C>T
NM_030943.4(AMN):c.1007-13C>T
NM_030943.4(AMN):c.1007-14C>T
NM_030943.4(AMN):c.1007-15G>A
NM_030943.4(AMN):c.1007-16G>A
NM_030943.4(AMN):c.1007-29G>C
NM_030943.4(AMN):c.1007-30G>C
NM_030943.4(AMN):c.1007-30G>T
NM_030943.4(AMN):c.1007-31G>C
NM_030943.4(AMN):c.1007-31_1007-30insCC
NM_030943.4(AMN):c.1007-32C>T
NM_030943.4(AMN):c.1007-33G>T
NM_030943.4(AMN):c.1007-34del
NM_030943.4(AMN):c.1007-38_1007-34dup
NM_030943.4(AMN):c.1007-4G>A
NM_030943.4(AMN):c.1007-7G>A
NM_030943.4(AMN):c.1007-9C>T
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
NM_030943.4(AMN):c.1017C>A (p.Leu339=) rs1230984626
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
NM_030943.4(AMN):c.105C>T (p.Asn35=)
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
NM_030943.4(AMN):c.1169+10G>A
NM_030943.4(AMN):c.1169+14G>A
NM_030943.4(AMN):c.1169+16G>T
NM_030943.4(AMN):c.1169+19C>T
NM_030943.4(AMN):c.1170-10A>G
NM_030943.4(AMN):c.1170-12C>T
NM_030943.4(AMN):c.1170-14C>T
NM_030943.4(AMN):c.1170-16C>T
NM_030943.4(AMN):c.1170-17C>T
NM_030943.4(AMN):c.1170-7C>A
NM_030943.4(AMN):c.1170-7C>T
NM_030943.4(AMN):c.1170-8G>A
NM_030943.4(AMN):c.1170-8G>C
NM_030943.4(AMN):c.1170-9C>T
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
NM_030943.4(AMN):c.1182C>T (p.His394=)
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
NM_030943.4(AMN):c.1257+10C>A
NM_030943.4(AMN):c.1257+15G>A
NM_030943.4(AMN):c.1257+16G>A
NM_030943.4(AMN):c.1257+16G>C
NM_030943.4(AMN):c.1257+17G>A
NM_030943.4(AMN):c.1257+18G>A
NM_030943.4(AMN):c.1257+19G>A
NM_030943.4(AMN):c.1257+20G>A
NM_030943.4(AMN):c.1257+20G>C
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.1257+7G>T
NM_030943.4(AMN):c.1258-14C>T
NM_030943.4(AMN):c.1258-15C>A
NM_030943.4(AMN):c.1258-15C>T
NM_030943.4(AMN):c.1258-4G>C
NM_030943.4(AMN):c.1258-5C>T
NM_030943.4(AMN):c.1258-8C>A
NM_030943.4(AMN):c.1258-9A>C
NM_030943.4(AMN):c.126G>A (p.Pro42=)
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
NM_030943.4(AMN):c.1287G>C (p.Pro429=) rs2139314090
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
NM_030943.4(AMN):c.129C>T (p.Cys43=)
NM_030943.4(AMN):c.1314C>T (p.His438=)
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3]) rs763564473
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
NM_030943.4(AMN):c.135C>T (p.Gly45=)
NM_030943.4(AMN):c.141C>G (p.Ala47=)
NM_030943.4(AMN):c.141C>T (p.Ala47=)
NM_030943.4(AMN):c.153G>A (p.Pro51=)
NM_030943.4(AMN):c.153G>C (p.Pro51=)
NM_030943.4(AMN):c.153G>T (p.Pro51=)
NM_030943.4(AMN):c.156G>A (p.Ala52=)
NM_030943.4(AMN):c.162+12C>G
NM_030943.4(AMN):c.162+12C>T
NM_030943.4(AMN):c.162+13G>A
NM_030943.4(AMN):c.162+15C>T
NM_030943.4(AMN):c.162+19G>A
NM_030943.4(AMN):c.162+8G>A
NM_030943.4(AMN):c.163-13C>A
NM_030943.4(AMN):c.163-16C>T
NM_030943.4(AMN):c.163-20G>A
NM_030943.4(AMN):c.163-6C>T
NM_030943.4(AMN):c.163-7C>T
NM_030943.4(AMN):c.168G>A (p.Val56=)
NM_030943.4(AMN):c.177G>A (p.Leu59=)
NM_030943.4(AMN):c.180G>C (p.Val60=)
NM_030943.4(AMN):c.192C>T (p.His64=)
NM_030943.4(AMN):c.195C>T (p.Ala65=)
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
NM_030943.4(AMN):c.207+11G>A
NM_030943.4(AMN):c.207+11G>C
NM_030943.4(AMN):c.207+12C>A
NM_030943.4(AMN):c.207+13T>C
NM_030943.4(AMN):c.207+14G>T
NM_030943.4(AMN):c.207+17A>C
NM_030943.4(AMN):c.207+8C>T
NM_030943.4(AMN):c.208-14C>T
NM_030943.4(AMN):c.208-15C>G
NM_030943.4(AMN):c.208-17G>T
NM_030943.4(AMN):c.208-18dup
NM_030943.4(AMN):c.208-20T>C
NM_030943.4(AMN):c.213G>A (p.Leu71=)
NM_030943.4(AMN):c.219G>A (p.Leu73=)
NM_030943.4(AMN):c.21C>A (p.Val7=) rs768522233
NM_030943.4(AMN):c.21C>T (p.Val7=) rs768522233
NM_030943.4(AMN):c.235C>T (p.Leu79=)
NM_030943.4(AMN):c.240T>C (p.Ala80=)
NM_030943.4(AMN):c.246A>G (p.Gly82=)
NM_030943.4(AMN):c.249C>A (p.Ala83=)
NM_030943.4(AMN):c.249C>G (p.Ala83=) rs748549145
NM_030943.4(AMN):c.249C>T (p.Ala83=)
NM_030943.4(AMN):c.24G>T (p.Leu8=)
NM_030943.4(AMN):c.258C>T (p.Gly86=)
NM_030943.4(AMN):c.264A>G (p.Ser88=)
NM_030943.4(AMN):c.276G>C (p.Ser92=)
NM_030943.4(AMN):c.280C>T (p.Leu94=)
NM_030943.4(AMN):c.282G>A (p.Leu94=)
NM_030943.4(AMN):c.295+11C>T
NM_030943.4(AMN):c.295+15C>T
NM_030943.4(AMN):c.295+17G>A
NM_030943.4(AMN):c.295+20G>A
NM_030943.4(AMN):c.295+7C>G
NM_030943.4(AMN):c.295+7C>T
NM_030943.4(AMN):c.295+8G>A
NM_030943.4(AMN):c.295+9G>A
NM_030943.4(AMN):c.296-11C>T
NM_030943.4(AMN):c.296-16A>T
NM_030943.4(AMN):c.296-6del
NM_030943.4(AMN):c.306C>A (p.Ala102=)
NM_030943.4(AMN):c.306C>T (p.Ala102=)
NM_030943.4(AMN):c.333C>T (p.Ser111=)
NM_030943.4(AMN):c.349C>T (p.Leu117=)
NM_030943.4(AMN):c.351G>C (p.Leu117=)
NM_030943.4(AMN):c.357C>T (p.Arg119=)
NM_030943.4(AMN):c.375T>C (p.Pro125=)
NM_030943.4(AMN):c.378C>T (p.Gly126=)
NM_030943.4(AMN):c.381C>G (p.Leu127=)
NM_030943.4(AMN):c.384C>T (p.Phe128=)
NM_030943.4(AMN):c.387C>T (p.Phe129=)
NM_030943.4(AMN):c.396C>T (p.Ala132=)
NM_030943.4(AMN):c.414C>T (p.Arg138=)
NM_030943.4(AMN):c.423C>T (p.Asp141=) rs2139309288
NM_030943.4(AMN):c.429C>T (p.Phe143=)
NM_030943.4(AMN):c.43+10G>A
NM_030943.4(AMN):c.43+11A>G
NM_030943.4(AMN):c.43+15C>T
NM_030943.4(AMN):c.43+16A>G
NM_030943.4(AMN):c.43+17C>G
NM_030943.4(AMN):c.43+17C>T
NM_030943.4(AMN):c.43+17_43+37del
NM_030943.4(AMN):c.43+18C>T
NM_030943.4(AMN):c.43+7C>T
NM_030943.4(AMN):c.43+8G>A rs1891084049
NM_030943.4(AMN):c.43+9G>A
NM_030943.4(AMN):c.44-15T>C
NM_030943.4(AMN):c.44-20C>T
NM_030943.4(AMN):c.44-4C>T
NM_030943.4(AMN):c.44-6C>T
NM_030943.4(AMN):c.44-9C>G
NM_030943.4(AMN):c.441T>C (p.Ser147=)
NM_030943.4(AMN):c.456G>A (p.Val152=)
NM_030943.4(AMN):c.459G>C (p.Gly153=) rs1286684210
NM_030943.4(AMN):c.462C>T (p.Leu154=)
NM_030943.4(AMN):c.46C>T (p.Leu16=)
NM_030943.4(AMN):c.480C>A (p.Pro160=)
NM_030943.4(AMN):c.480C>T (p.Pro160=)
NM_030943.4(AMN):c.504T>A (p.Ala168=)
NM_030943.4(AMN):c.510C>A (p.Gly170=)
NM_030943.4(AMN):c.513+14G>A
NM_030943.4(AMN):c.513+16A>C
NM_030943.4(AMN):c.513+19del
NM_030943.4(AMN):c.513+8C>G
NM_030943.4(AMN):c.513+8C>T rs764938272
NM_030943.4(AMN):c.514-15C>A
NM_030943.4(AMN):c.514-15C>T
NM_030943.4(AMN):c.514-19G>A
NM_030943.4(AMN):c.514-4G>C
NM_030943.4(AMN):c.514-4G>T
NM_030943.4(AMN):c.514-7C>T
NM_030943.4(AMN):c.516G>C (p.Thr172=)
NM_030943.4(AMN):c.522G>A (p.Thr174=)
NM_030943.4(AMN):c.525C>T (p.Arg175=)
NM_030943.4(AMN):c.555C>T (p.Ser185=)
NM_030943.4(AMN):c.558C>T (p.Arg186=)
NM_030943.4(AMN):c.561G>A (p.Ala187=)
NM_030943.4(AMN):c.579C>T (p.His193=)
NM_030943.4(AMN):c.57G>A (p.Ala19=) rs145328398
NM_030943.4(AMN):c.582G>T (p.Gly194=)
NM_030943.4(AMN):c.591G>T (p.Ala197=)
NM_030943.4(AMN):c.597C>T (p.Ser199=)
NM_030943.4(AMN):c.600G>A (p.Val200=)
NM_030943.4(AMN):c.603C>T (p.Gly201=)
NM_030943.4(AMN):c.618G>A (p.Ala206=)
NM_030943.4(AMN):c.618G>C (p.Ala206=)
NM_030943.4(AMN):c.627G>A (p.Ser209=)
NM_030943.4(AMN):c.630C>T (p.Gly210=)
NM_030943.4(AMN):c.633C>T (p.Cys211=)
NM_030943.4(AMN):c.651+10G>A
NM_030943.4(AMN):c.651+12C>A
NM_030943.4(AMN):c.651+13G>T
NM_030943.4(AMN):c.651+15A>C
NM_030943.4(AMN):c.651+16G>T
NM_030943.4(AMN):c.651+9G>A
NM_030943.4(AMN):c.652-10C>T
NM_030943.4(AMN):c.652-12C>T
NM_030943.4(AMN):c.652-14G>A
NM_030943.4(AMN):c.652-14G>T rs949145775
NM_030943.4(AMN):c.652-4C>T
NM_030943.4(AMN):c.660G>A (p.Pro220=)
NM_030943.4(AMN):c.672G>A (p.Ala224=)
NM_030943.4(AMN):c.672G>T (p.Ala224=)
NM_030943.4(AMN):c.678G>A (p.Leu226=)
NM_030943.4(AMN):c.687C>T (p.Pro229=)
NM_030943.4(AMN):c.690G>A (p.Leu230=)
NM_030943.4(AMN):c.693C>T (p.Gly231=)
NM_030943.4(AMN):c.702C>T (p.Cys234=)
NM_030943.4(AMN):c.705C>A (p.Pro235=)
NM_030943.4(AMN):c.705C>G (p.Pro235=)
NM_030943.4(AMN):c.711C>T (p.Ala237=)
NM_030943.4(AMN):c.723C>T (p.Ser241=)
NM_030943.4(AMN):c.732G>A (p.Arg244=)
NM_030943.4(AMN):c.753C>T (p.Asp251=)
NM_030943.4(AMN):c.756C>A (p.Leu252=)
NM_030943.4(AMN):c.756C>T (p.Leu252=)
NM_030943.4(AMN):c.75C>A (p.Val25=)
NM_030943.4(AMN):c.75C>T (p.Val25=)
NM_030943.4(AMN):c.760+12C>T
NM_030943.4(AMN):c.760+15C>T
NM_030943.4(AMN):c.760+16G>A
NM_030943.4(AMN):c.760+18G>A
NM_030943.4(AMN):c.760+8C>T
NM_030943.4(AMN):c.760+9C>T
NM_030943.4(AMN):c.761-14C>T
NM_030943.4(AMN):c.761-20C>A
NM_030943.4(AMN):c.761-20C>T
NM_030943.4(AMN):c.761-4G>A
NM_030943.4(AMN):c.761-8C>G
NM_030943.4(AMN):c.761-9C>A
NM_030943.4(AMN):c.762A>G (p.Gly254=)
NM_030943.4(AMN):c.775C>T (p.Leu259=)
NM_030943.4(AMN):c.780C>A (p.Thr260=)
NM_030943.4(AMN):c.783C>T (p.His261=)
NM_030943.4(AMN):c.789C>T (p.Pro263=)
NM_030943.4(AMN):c.798C>T (p.Asp266=)
NM_030943.4(AMN):c.801G>C (p.Leu267=) rs1163660664
NM_030943.4(AMN):c.816G>A (p.Ala272=)
NM_030943.4(AMN):c.81C>T (p.Asn27=)
NM_030943.4(AMN):c.831C>T (p.Thr277=)
NM_030943.4(AMN):c.843+10C>A
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.843+13C>G
NM_030943.4(AMN):c.843+13C>T
NM_030943.4(AMN):c.843+14G>A
NM_030943.4(AMN):c.843+15C>T
NM_030943.4(AMN):c.843+20A>G
NM_030943.4(AMN):c.843+7G>A
NM_030943.4(AMN):c.844-11C>T
NM_030943.4(AMN):c.844-13T>A
NM_030943.4(AMN):c.844-15C>T
NM_030943.4(AMN):c.844-17C>G
NM_030943.4(AMN):c.844-17C>T
NM_030943.4(AMN):c.844-18C>A
NM_030943.4(AMN):c.855C>T (p.His285=)
NM_030943.4(AMN):c.861G>C (p.Leu287=)
NM_030943.4(AMN):c.870C>T (p.Ala290=)
NM_030943.4(AMN):c.888C>G (p.Arg296=)
NM_030943.4(AMN):c.915G>A (p.Thr305=)
NM_030943.4(AMN):c.918G>A (p.Glu306=)
NM_030943.4(AMN):c.921C>T (p.Ile307=)
NM_030943.4(AMN):c.945G>T (p.Gly315=)
NM_030943.4(AMN):c.954A>C (p.Thr318=)
NM_030943.4(AMN):c.954A>G (p.Thr318=)
NM_030943.4(AMN):c.957C>A (p.Gly319=)
NM_030943.4(AMN):c.967C>A (p.Arg323=)
NM_030943.4(AMN):c.96C>T (p.Val32=)
NM_030943.4(AMN):c.972G>A (p.Leu324=)
NM_030943.4(AMN):c.975C>T (p.Ala325=)
NM_030943.4(AMN):c.987G>A (p.Leu329=)
NM_030943.4(AMN):c.990G>A (p.Ala330=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.