ClinVar Miner

List of variants in gene ATP8B1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 515
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.2419-214_2419-185del rs770561854 0.04175
NM_001374385.1(ATP8B1):c.-25-341T>C rs141727512 0.04138
NM_001374385.1(ATP8B1):c.3401-335C>T rs117520022 0.02406
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_001374385.1(ATP8B1):c.2098-43G>T rs767841401 0.01247
NM_001374385.1(ATP8B1):c.1429+166A>C rs58650958 0.00948
NM_001374385.1(ATP8B1):c.1474-140T>C rs116734446 0.00911
NM_001374385.1(ATP8B1):c.699-122A>G rs72946005 0.00880
NM_001374385.1(ATP8B1):c.181+30C>T rs34489428 0.00720
NM_001374385.1(ATP8B1):c.2931+208G>A rs76889037 0.00701
NM_001374385.1(ATP8B1):c.3400+113T>G rs140462879 0.00688
NM_001374385.1(ATP8B1):c.-248G>A rs373264401 0.00676
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_001374385.1(ATP8B1):c.-25-21T>A rs191520709 0.00290
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001374385.1(ATP8B1):c.*10C>T rs147298165 0.00189
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_001374385.1(ATP8B1):c.3454= (p.Ala1152=) rs222581 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00075
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=) rs141463153 0.00055
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) rs33965008 0.00052
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=) rs140634215 0.00047
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly) rs200214627 0.00046
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001374385.1(ATP8B1):c.1030-9G>A rs201532178 0.00018
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689 0.00014
NM_001374385.1(ATP8B1):c.1473+16C>T rs34187170 0.00012
NM_001374385.1(ATP8B1):c.2796G>A (p.Leu932=) rs150451318 0.00011
NM_001374385.1(ATP8B1):c.334C>T (p.Leu112=) rs750655669 0.00009
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=) rs762363452 0.00009
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=) rs376358532 0.00007
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=) rs776385207 0.00006
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=) rs201514636 0.00005
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=) rs149156534 0.00005
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=) rs749127600 0.00005
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=) rs575921074 0.00005
NM_001374385.1(ATP8B1):c.394-6T>C rs34988227 0.00005
NM_001374385.1(ATP8B1):c.771T>C (p.Ala257=) rs34221682 0.00005
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=) rs35969033 0.00004
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=) rs761202112 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.181+19G>A rs369562908 0.00004
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=) rs201150730 0.00004
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=) rs747771646 0.00004
NM_001374385.1(ATP8B1):c.309C>T (p.Asn103=) rs557677633 0.00004
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=) rs777459332 0.00004
NM_001374385.1(ATP8B1):c.3401-13A>G rs747437391 0.00004
NM_001374385.1(ATP8B1):c.835C>T (p.Leu279=) rs183314413 0.00004
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=) rs775490128 0.00003
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=) rs370484798 0.00003
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569 0.00003
NM_001374385.1(ATP8B1):c.2931+12T>C rs781342567 0.00002
NM_001374385.1(ATP8B1):c.3532-8C>G rs1322207888 0.00002
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=) rs751410046 0.00002
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=) rs375842507 0.00002
NM_001374385.1(ATP8B1):c.698+13C>T rs752982538 0.00002
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=) rs1179570288 0.00001
NM_001374385.1(ATP8B1):c.1395C>T (p.Thr465=) rs762838957 0.00001
NM_001374385.1(ATP8B1):c.1429+14G>A rs886054012 0.00001
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=) rs754573787 0.00001
NM_001374385.1(ATP8B1):c.1819+10C>T rs767885426 0.00001
NM_001374385.1(ATP8B1):c.2209+9T>C rs377124910 0.00001
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=) rs199716374 0.00001
NM_001374385.1(ATP8B1):c.2721C>T (p.Gly907=) rs780013917 0.00001
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=) rs758180192 0.00001
NM_001374385.1(ATP8B1):c.2916T>C (p.Asn972=) rs763526583 0.00001
NM_001374385.1(ATP8B1):c.2932-9C>T rs776616431 0.00001
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=) rs140005450 0.00001
NM_001374385.1(ATP8B1):c.3510C>T (p.Ile1170=) rs1599064175 0.00001
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=) rs778786114 0.00001
NM_001374385.1(ATP8B1):c.394-7C>T rs370252509 0.00001
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=) rs201160977 0.00001
NM_001374385.1(ATP8B1):c.-25-303_-25-302dup rs71171076
NM_001374385.1(ATP8B1):c.1030-10T>C
NM_001374385.1(ATP8B1):c.1030-11C>T
NM_001374385.1(ATP8B1):c.1030-15T>A
NM_001374385.1(ATP8B1):c.1030-15T>G
NM_001374385.1(ATP8B1):c.1030-17T>C
NM_001374385.1(ATP8B1):c.1030-19A>C
NM_001374385.1(ATP8B1):c.1030-8T>C
NM_001374385.1(ATP8B1):c.1038T>C (p.Val346=)
NM_001374385.1(ATP8B1):c.1065T>G (p.Leu355=)
NM_001374385.1(ATP8B1):c.1083T>C (p.Tyr361=)
NM_001374385.1(ATP8B1):c.1098G>T (p.Val366=)
NM_001374385.1(ATP8B1):c.111G>C (p.Gly37=)
NM_001374385.1(ATP8B1):c.111G>T (p.Gly37=)
NM_001374385.1(ATP8B1):c.1134C>T (p.Asp378=)
NM_001374385.1(ATP8B1):c.1137T>C (p.Asp379=)
NM_001374385.1(ATP8B1):c.1176T>C (p.Tyr392=)
NM_001374385.1(ATP8B1):c.1179C>A (p.Ile393=)
NM_001374385.1(ATP8B1):c.1179C>T (p.Ile393=)
NM_001374385.1(ATP8B1):c.1194C>T (p.Thr398=)
NM_001374385.1(ATP8B1):c.1206C>A (p.Ile402=)
NM_001374385.1(ATP8B1):c.1215T>C (p.Tyr405=)
NM_001374385.1(ATP8B1):c.1218C>G (p.Val406=)
NM_001374385.1(ATP8B1):c.1220+12CT[2]
NM_001374385.1(ATP8B1):c.1221-13_1221-11del
NM_001374385.1(ATP8B1):c.1221-18A>G
NM_001374385.1(ATP8B1):c.1221-8C>G
NM_001374385.1(ATP8B1):c.1230G>C (p.Val410=)
NM_001374385.1(ATP8B1):c.1245G>A (p.Gln415=)
NM_001374385.1(ATP8B1):c.1267C>T (p.Leu423=)
NM_001374385.1(ATP8B1):c.1269G>A (p.Leu423=)
NM_001374385.1(ATP8B1):c.1281T>C (p.Tyr427=)
NM_001374385.1(ATP8B1):c.1296A>T (p.Thr432=)
NM_001374385.1(ATP8B1):c.1299C>G (p.Pro433=)
NM_001374385.1(ATP8B1):c.1299C>T (p.Pro433=)
NM_001374385.1(ATP8B1):c.1314C>G (p.Thr438=)
NM_001374385.1(ATP8B1):c.1317C>G (p.Thr439=)
NM_001374385.1(ATP8B1):c.1323C>G (p.Leu441=)
NM_001374385.1(ATP8B1):c.1335C>T (p.Leu445=)
NM_001374385.1(ATP8B1):c.1365G>A (p.Lys455=)
NM_001374385.1(ATP8B1):c.1368G>A (p.Thr456=)
NM_001374385.1(ATP8B1):c.1386T>C (p.Asn462=)
NM_001374385.1(ATP8B1):c.1401A>G (p.Lys467=)
NM_001374385.1(ATP8B1):c.1407C>T (p.Cys469=)
NM_001374385.1(ATP8B1):c.1416C>T (p.Asn472=)
NM_001374385.1(ATP8B1):c.141C>A (p.Val47=)
NM_001374385.1(ATP8B1):c.1429+13C>T
NM_001374385.1(ATP8B1):c.1429+15T>A
NM_001374385.1(ATP8B1):c.1429+20C>T
NM_001374385.1(ATP8B1):c.1430-17T>C
NM_001374385.1(ATP8B1):c.1430-21_1430-17del
NM_001374385.1(ATP8B1):c.1430-26TTTGT[3]
NM_001374385.1(ATP8B1):c.1430-8T>C
NM_001374385.1(ATP8B1):c.1431G>A (p.Gly477=)
NM_001374385.1(ATP8B1):c.1437T>C (p.His479=)
NM_001374385.1(ATP8B1):c.1438C>A (p.Arg480=)
NM_001374385.1(ATP8B1):c.1464C>T (p.Asn488=)
NM_001374385.1(ATP8B1):c.1470A>T (p.Ile490=)
NM_001374385.1(ATP8B1):c.1473+10T>C
NM_001374385.1(ATP8B1):c.1473+17G>A
NM_001374385.1(ATP8B1):c.1473+7C>T
NM_001374385.1(ATP8B1):c.1473+8C>T
NM_001374385.1(ATP8B1):c.1474-18T>C
NM_001374385.1(ATP8B1):c.1503T>C (p.Ala501=)
NM_001374385.1(ATP8B1):c.1518A>C (p.Ala506=)
NM_001374385.1(ATP8B1):c.1527C>T (p.Asp509=)
NM_001374385.1(ATP8B1):c.1533T>C (p.Tyr511=)
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr)
NM_001374385.1(ATP8B1):c.1539T>C (p.Ile513=)
NM_001374385.1(ATP8B1):c.153A>T (p.Ala51=)
NM_001374385.1(ATP8B1):c.1575A>T (p.Arg525=)
NM_001374385.1(ATP8B1):c.1584C>T (p.Phe528=)
NM_001374385.1(ATP8B1):c.1593C>T (p.Leu531=)
NM_001374385.1(ATP8B1):c.1630+13C>T
NM_001374385.1(ATP8B1):c.1630+18A>G
NM_001374385.1(ATP8B1):c.1631-13G>A
NM_001374385.1(ATP8B1):c.1631-14C>T
NM_001374385.1(ATP8B1):c.1631-16C>T
NM_001374385.1(ATP8B1):c.1631-7T>C
NM_001374385.1(ATP8B1):c.1638C>T (p.Leu546=)
NM_001374385.1(ATP8B1):c.1644C>T (p.Tyr548=)
NM_001374385.1(ATP8B1):c.1647G>A (p.Gln549=)
NM_001374385.1(ATP8B1):c.1671C>T (p.Ala557=)
NM_001374385.1(ATP8B1):c.1680C>T (p.Asn560=)
NM_001374385.1(ATP8B1):c.1692C>T (p.Asn564=)
NM_001374385.1(ATP8B1):c.1710C>T (p.Leu570=)
NM_001374385.1(ATP8B1):c.1725C>T (p.Asn575=)
NM_001374385.1(ATP8B1):c.1734C>T (p.Thr578=)
NM_001374385.1(ATP8B1):c.174C>T (p.Phe58=)
NM_001374385.1(ATP8B1):c.175A>C (p.Arg59=)
NM_001374385.1(ATP8B1):c.1764C>T (p.Tyr588=)
NM_001374385.1(ATP8B1):c.1776C>A (p.Ala592=)
NM_001374385.1(ATP8B1):c.1803G>A (p.Lys601=)
NM_001374385.1(ATP8B1):c.181+10T>C
NM_001374385.1(ATP8B1):c.181+16C>A
NM_001374385.1(ATP8B1):c.181+18C>G
NM_001374385.1(ATP8B1):c.181+18C>T
NM_001374385.1(ATP8B1):c.1819+11C>A
NM_001374385.1(ATP8B1):c.1819+14A>T
NM_001374385.1(ATP8B1):c.1819+17G>T
NM_001374385.1(ATP8B1):c.1819+7C>G
NM_001374385.1(ATP8B1):c.1819+9C>T
NM_001374385.1(ATP8B1):c.182-12T>G
NM_001374385.1(ATP8B1):c.182-5T>A
NM_001374385.1(ATP8B1):c.1820-14T>A
NM_001374385.1(ATP8B1):c.1833A>G (p.Glu611=)
NM_001374385.1(ATP8B1):c.1842C>A (p.Ile614=)
NM_001374385.1(ATP8B1):c.1845G>A (p.Lys615=)
NM_001374385.1(ATP8B1):c.1890T>C (p.His630=)
NM_001374385.1(ATP8B1):c.189A>C (p.Thr63=)
NM_001374385.1(ATP8B1):c.1923T>C (p.Asp641=)
NM_001374385.1(ATP8B1):c.1929G>A (p.Leu643=)
NM_001374385.1(ATP8B1):c.1932+15T>C
NM_001374385.1(ATP8B1):c.1932+7T>C
NM_001374385.1(ATP8B1):c.1933-17T>A
NM_001374385.1(ATP8B1):c.1933-17T>C
NM_001374385.1(ATP8B1):c.1959C>T (p.Thr653=)
NM_001374385.1(ATP8B1):c.1968T>C (p.Leu656=)
NM_001374385.1(ATP8B1):c.2010T>C (p.Asn670=)
NM_001374385.1(ATP8B1):c.201A>G (p.Lys67=)
NM_001374385.1(ATP8B1):c.2031T>C (p.Ser677=)
NM_001374385.1(ATP8B1):c.2034G>T (p.Val678=)
NM_001374385.1(ATP8B1):c.2091C>T (p.Asp697=)
NM_001374385.1(ATP8B1):c.2097+12C>T
NM_001374385.1(ATP8B1):c.2097+19A>G
NM_001374385.1(ATP8B1):c.2098-5T>G
NM_001374385.1(ATP8B1):c.2098-7A>T
NM_001374385.1(ATP8B1):c.2098-8C>T
NM_001374385.1(ATP8B1):c.2101C>T (p.Leu701=)
NM_001374385.1(ATP8B1):c.2127G>A (p.Lys709=)
NM_001374385.1(ATP8B1):c.2128C>T (p.Leu710=)
NM_001374385.1(ATP8B1):c.2133G>A (p.Gln711=)
NM_001374385.1(ATP8B1):c.2136T>C (p.Asp712=)
NM_001374385.1(ATP8B1):c.2151C>G (p.Thr717=) rs1240456060
NM_001374385.1(ATP8B1):c.2151C>T (p.Thr717=)
NM_001374385.1(ATP8B1):c.2184C>T (p.Ile728=)
NM_001374385.1(ATP8B1):c.2209+10T>C rs1555689635
NM_001374385.1(ATP8B1):c.2210-15T>C
NM_001374385.1(ATP8B1):c.2210-9del
NM_001374385.1(ATP8B1):c.2229A>T (p.Gly743=)
NM_001374385.1(ATP8B1):c.222C>T (p.His74=)
NM_001374385.1(ATP8B1):c.2235T>G (p.Ala745=)
NM_001374385.1(ATP8B1):c.2256C>T (p.Asp752=)
NM_001374385.1(ATP8B1):c.2259C>T (p.Thr753=)
NM_001374385.1(ATP8B1):c.2286-13T>C
NM_001374385.1(ATP8B1):c.2286-14T>C
NM_001374385.1(ATP8B1):c.2286-6C>T
NM_001374385.1(ATP8B1):c.2298T>C (p.His766=)
NM_001374385.1(ATP8B1):c.2304G>A (p.Arg768=)
NM_001374385.1(ATP8B1):c.2319G>A (p.Arg773=)
NM_001374385.1(ATP8B1):c.2322T>C (p.Asn774=)
NM_001374385.1(ATP8B1):c.2328T>C (p.Gly776=)
NM_001374385.1(ATP8B1):c.2331C>T (p.Gly777=)
NM_001374385.1(ATP8B1):c.2367T>G (p.Ser789=)
NM_001374385.1(ATP8B1):c.2376A>G (p.Pro792=)
NM_001374385.1(ATP8B1):c.2379C>T (p.Pro793=)
NM_001374385.1(ATP8B1):c.2397A>G (p.Leu799=)
NM_001374385.1(ATP8B1):c.2418+10A>G
NM_001374385.1(ATP8B1):c.2418+12T>C
NM_001374385.1(ATP8B1):c.2418+15T>C
NM_001374385.1(ATP8B1):c.2418+16G>A
NM_001374385.1(ATP8B1):c.2418+9C>T
NM_001374385.1(ATP8B1):c.2419-12C>G
NM_001374385.1(ATP8B1):c.2433C>T (p.Leu811=)
NM_001374385.1(ATP8B1):c.243C>T (p.Asn81=)
NM_001374385.1(ATP8B1):c.2538A>G (p.Lys846=)
NM_001374385.1(ATP8B1):c.2553A>G (p.Lys851=)
NM_001374385.1(ATP8B1):c.2559T>C (p.Phe853=)
NM_001374385.1(ATP8B1):c.255G>A (p.Leu85=)
NM_001374385.1(ATP8B1):c.2574C>T (p.Cys858=)
NM_001374385.1(ATP8B1):c.2583C>T (p.Ser861=)
NM_001374385.1(ATP8B1):c.2589C>T (p.Val863=)
NM_001374385.1(ATP8B1):c.2601C>T (p.Arg867=)
NM_001374385.1(ATP8B1):c.264G>A (p.Lys88=)
NM_001374385.1(ATP8B1):c.2664G>A (p.Thr888=)
NM_001374385.1(ATP8B1):c.2679T>C (p.Asp893=)
NM_001374385.1(ATP8B1):c.2691C>T (p.Asp897=)
NM_001374385.1(ATP8B1):c.2694G>C (p.Val898=)
NM_001374385.1(ATP8B1):c.2707+11C>T
NM_001374385.1(ATP8B1):c.2707+14C>T
NM_001374385.1(ATP8B1):c.2707+15C>T
NM_001374385.1(ATP8B1):c.2707+17C>T
NM_001374385.1(ATP8B1):c.2707+18G>A
NM_001374385.1(ATP8B1):c.2707+9T>C rs758888388
NM_001374385.1(ATP8B1):c.2707+9T>G
NM_001374385.1(ATP8B1):c.2708-4A>C
NM_001374385.1(ATP8B1):c.270T>C (p.Ser90=)
NM_001374385.1(ATP8B1):c.2715C>T (p.His905=)
NM_001374385.1(ATP8B1):c.2730A>T (p.Ile910=)
NM_001374385.1(ATP8B1):c.2733T>C (p.Ser911=)
NM_001374385.1(ATP8B1):c.2745A>T (p.Gly915=)
NM_001374385.1(ATP8B1):c.2772T>C (p.Tyr924=)
NM_001374385.1(ATP8B1):c.2775C>T (p.Ser925=)
NM_001374385.1(ATP8B1):c.279+16T>C
NM_001374385.1(ATP8B1):c.279+16T>G
NM_001374385.1(ATP8B1):c.279+19G>T
NM_001374385.1(ATP8B1):c.279+94C>G rs144676034
NM_001374385.1(ATP8B1):c.2790A>G (p.Arg930=)
NM_001374385.1(ATP8B1):c.27G>A (p.Thr9=)
NM_001374385.1(ATP8B1):c.280-16T>C
NM_001374385.1(ATP8B1):c.280-16_280-15del
NM_001374385.1(ATP8B1):c.280-17C>G
NM_001374385.1(ATP8B1):c.280-5A>C
NM_001374385.1(ATP8B1):c.280-8T>C
NM_001374385.1(ATP8B1):c.2802G>A (p.Arg934=)
NM_001374385.1(ATP8B1):c.2803C>T (p.Leu935=)
NM_001374385.1(ATP8B1):c.2832C>T (p.Tyr944=)
NM_001374385.1(ATP8B1):c.2847G>A (p.Lys949=)
NM_001374385.1(ATP8B1):c.2880C>G (p.Ala960=)
NM_001374385.1(ATP8B1):c.2892T>C (p.Val964=)
NM_001374385.1(ATP8B1):c.2895T>C (p.His965=)
NM_001374385.1(ATP8B1):c.2925T>A (p.Ser975=)
NM_001374385.1(ATP8B1):c.2928G>C (p.Ala976=)
NM_001374385.1(ATP8B1):c.2931+14_2931+16del
NM_001374385.1(ATP8B1):c.2931+17A>G
NM_001374385.1(ATP8B1):c.2931+20A>T
NM_001374385.1(ATP8B1):c.2931+20_2931+22del
NM_001374385.1(ATP8B1):c.2931+20_2931+28del
NM_001374385.1(ATP8B1):c.2931+9A>G
NM_001374385.1(ATP8B1):c.2932-14T>A
NM_001374385.1(ATP8B1):c.2932-17_2932-16del
NM_001374385.1(ATP8B1):c.2932-18T>G
NM_001374385.1(ATP8B1):c.2932-20C>G
NM_001374385.1(ATP8B1):c.2932-7C>T
NM_001374385.1(ATP8B1):c.2940C>T (p.Tyr980=)
NM_001374385.1(ATP8B1):c.2961C>G (p.Leu987=)
NM_001374385.1(ATP8B1):c.2964C>T (p.Tyr988=)
NM_001374385.1(ATP8B1):c.2967C>T (p.Asn989=)
NM_001374385.1(ATP8B1):c.2976C>T (p.Tyr992=)
NM_001374385.1(ATP8B1):c.2982C>T (p.Ser994=)
NM_001374385.1(ATP8B1):c.2997C>T (p.Leu999=)
NM_001374385.1(ATP8B1):c.3003G>A (p.Gly1001=)
NM_001374385.1(ATP8B1):c.3003G>C (p.Gly1001=)
NM_001374385.1(ATP8B1):c.300C>T (p.Tyr100=)
NM_001374385.1(ATP8B1):c.3015+11C>T
NM_001374385.1(ATP8B1):c.3015+12G>A
NM_001374385.1(ATP8B1):c.3015+7G>T
NM_001374385.1(ATP8B1):c.3015+8C>G
NM_001374385.1(ATP8B1):c.3016-19_3016-18del
NM_001374385.1(ATP8B1):c.3016-8T>A
NM_001374385.1(ATP8B1):c.3016-8T>C
NM_001374385.1(ATP8B1):c.3021G>C (p.Val1007=)
NM_001374385.1(ATP8B1):c.3033G>A (p.Leu1011=)
NM_001374385.1(ATP8B1):c.303G>A (p.Lys101=)
NM_001374385.1(ATP8B1):c.3041G>A (p.Arg1014Gln)
NM_001374385.1(ATP8B1):c.3051G>T (p.Gly1017=)
NM_001374385.1(ATP8B1):c.3063G>A (p.Val1021=)
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=) rs1555693515
NM_001374385.1(ATP8B1):c.3072A>G (p.Arg1024=)
NM_001374385.1(ATP8B1):c.3093G>A (p.Lys1031=)
NM_001374385.1(ATP8B1):c.30A>T (p.Thr10=)
NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)
NM_001374385.1(ATP8B1):c.3111G>A (p.Leu1037=)
NM_001374385.1(ATP8B1):c.3112T>C (p.Leu1038=)
NM_001374385.1(ATP8B1):c.3114G>A (p.Leu1038=)
NM_001374385.1(ATP8B1):c.3117T>C (p.His1039=)
NM_001374385.1(ATP8B1):c.3124C>T (p.Leu1042=)
NM_001374385.1(ATP8B1):c.3129A>T (p.Thr1043=)
NM_001374385.1(ATP8B1):c.3132G>A (p.Ser1044=)
NM_001374385.1(ATP8B1):c.315T>C (p.Phe105=)
NM_001374385.1(ATP8B1):c.3165T>C (p.Tyr1055=)
NM_001374385.1(ATP8B1):c.3174C>T (p.Thr1058=)
NM_001374385.1(ATP8B1):c.3180G>C (p.Gly1060=)
NM_001374385.1(ATP8B1):c.3195A>T (p.Ala1065=)
NM_001374385.1(ATP8B1):c.3201C>A (p.Ser1067=)
NM_001374385.1(ATP8B1):c.3219C>T (p.Ala1073=)
NM_001374385.1(ATP8B1):c.3243A>G (p.Val1081=)
NM_001374385.1(ATP8B1):c.3249A>G (p.Thr1083=)
NM_001374385.1(ATP8B1):c.3261+14A>G
NM_001374385.1(ATP8B1):c.3261+15T>C
NM_001374385.1(ATP8B1):c.3262-12G>A
NM_001374385.1(ATP8B1):c.3262-137G>T rs114260754
NM_001374385.1(ATP8B1):c.3262-8C>G
NM_001374385.1(ATP8B1):c.3262-8C>T
NM_001374385.1(ATP8B1):c.3268T>C (p.Leu1090=)
NM_001374385.1(ATP8B1):c.3282T>C (p.Tyr1094=)
NM_001374385.1(ATP8B1):c.3300T>C (p.Ala1100=)
NM_001374385.1(ATP8B1):c.3324A>T (p.Ala1108=)
NM_001374385.1(ATP8B1):c.3354T>C (p.His1118=)
NM_001374385.1(ATP8B1):c.3360T>A (p.Ala1120=)
NM_001374385.1(ATP8B1):c.3369T>C (p.His1123=)
NM_001374385.1(ATP8B1):c.336G>A (p.Leu112=)
NM_001374385.1(ATP8B1):c.3375C>T (p.Leu1125=)
NM_001374385.1(ATP8B1):c.3387A>C (p.Ala1129=)
NM_001374385.1(ATP8B1):c.3400+18C>T
NM_001374385.1(ATP8B1):c.3400+19C>A
NM_001374385.1(ATP8B1):c.3401-17del
NM_001374385.1(ATP8B1):c.3402C>T (p.Gly1134=)
NM_001374385.1(ATP8B1):c.3411A>G (p.Ser1137=)
NM_001374385.1(ATP8B1):c.3414C>T (p.Asn1138=)
NM_001374385.1(ATP8B1):c.3423A>G (p.Arg1141=)
NM_001374385.1(ATP8B1):c.3426G>A (p.Gln1142=)
NM_001374385.1(ATP8B1):c.3432C>T (p.Tyr1144=)
NM_001374385.1(ATP8B1):c.3449T>C (p.Ile1150Thr)
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_001374385.1(ATP8B1):c.3472C>T (p.Leu1158=)
NM_001374385.1(ATP8B1):c.3480C>T (p.Val1160=)
NM_001374385.1(ATP8B1):c.3492A>T (p.Arg1164=)
NM_001374385.1(ATP8B1):c.3495C>T (p.Phe1165=)
NM_001374385.1(ATP8B1):c.3501A>T (p.Ser1167=)
NM_001374385.1(ATP8B1):c.3531+11T>C
NM_001374385.1(ATP8B1):c.3531+13T>C
NM_001374385.1(ATP8B1):c.3531+14A>G
NM_001374385.1(ATP8B1):c.3531+15G>C
NM_001374385.1(ATP8B1):c.3531+17C>T
NM_001374385.1(ATP8B1):c.3531+18C>T
NM_001374385.1(ATP8B1):c.3531+9A>C
NM_001374385.1(ATP8B1):c.3532-11C>A
NM_001374385.1(ATP8B1):c.3532-14T>C
NM_001374385.1(ATP8B1):c.3532-15C>G
NM_001374385.1(ATP8B1):c.3532-17A>T
NM_001374385.1(ATP8B1):c.3532-18C>G
NM_001374385.1(ATP8B1):c.3532-19C>G
NM_001374385.1(ATP8B1):c.3532-20C>T
NM_001374385.1(ATP8B1):c.3532-7C>T
NM_001374385.1(ATP8B1):c.3532-9C>G
NM_001374385.1(ATP8B1):c.3546C>G (p.Arg1182=)
NM_001374385.1(ATP8B1):c.3558G>A (p.Lys1186=)
NM_001374385.1(ATP8B1):c.3564G>A (p.Glu1188=)
NM_001374385.1(ATP8B1):c.3567G>A (p.Glu1189=)
NM_001374385.1(ATP8B1):c.357A>T (p.Ala119=)
NM_001374385.1(ATP8B1):c.3580C>A (p.Arg1194=)
NM_001374385.1(ATP8B1):c.3603C>T (p.Gly1201=)
NM_001374385.1(ATP8B1):c.3612G>T (p.Thr1204=)
NM_001374385.1(ATP8B1):c.3615G>C (p.Arg1205=)
NM_001374385.1(ATP8B1):c.3618C>A (p.Arg1206=)
NM_001374385.1(ATP8B1):c.3621G>A (p.Ser1207=)
NM_001374385.1(ATP8B1):c.3621G>T (p.Ser1207=)
NM_001374385.1(ATP8B1):c.3627C>T (p.Tyr1209=)
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=) rs748084795
NM_001374385.1(ATP8B1):c.3636G>C (p.Ser1212=)
NM_001374385.1(ATP8B1):c.3648C>A (p.Gly1216=)
NM_001374385.1(ATP8B1):c.3651C>T (p.Tyr1217=)
NM_001374385.1(ATP8B1):c.3657C>T (p.Asp1219=)
NM_001374385.1(ATP8B1):c.3660C>A (p.Leu1220=)
NM_001374385.1(ATP8B1):c.3666C>T (p.Ser1222=)
NM_001374385.1(ATP8B1):c.3672G>A (p.Gly1224=)
NM_001374385.1(ATP8B1):c.3675C>T (p.Arg1225=)
NM_001374385.1(ATP8B1):c.36C>T (p.Asp12=)
NM_001374385.1(ATP8B1):c.3705T>C (p.Asp1235=)
NM_001374385.1(ATP8B1):c.3711C>T (p.Ile1237=)
NM_001374385.1(ATP8B1):c.3717G>A (p.Ala1239=)
NM_001374385.1(ATP8B1):c.3729G>A (p.Ala1243=)
NM_001374385.1(ATP8B1):c.3729G>C (p.Ala1243=)
NM_001374385.1(ATP8B1):c.3732G>A (p.Glu1244=)
NM_001374385.1(ATP8B1):c.3735C>T (p.Tyr1245=)
NM_001374385.1(ATP8B1):c.3747G>A (p.Gly1249=)
NM_001374385.1(ATP8B1):c.381T>C (p.Leu127=)
NM_001374385.1(ATP8B1):c.393+13G>A
NM_001374385.1(ATP8B1):c.394-17C>T
NM_001374385.1(ATP8B1):c.414C>T (p.Thr138=)
NM_001374385.1(ATP8B1):c.417G>A (p.Leu139=)
NM_001374385.1(ATP8B1):c.426C>T (p.Tyr142=)
NM_001374385.1(ATP8B1):c.432A>G (p.Thr144=)
NM_001374385.1(ATP8B1):c.441C>A (p.Pro147=)
NM_001374385.1(ATP8B1):c.441C>T (p.Pro147=)
NM_001374385.1(ATP8B1):c.442C>T (p.Leu148=)
NM_001374385.1(ATP8B1):c.450G>T (p.Val150=)
NM_001374385.1(ATP8B1):c.459C>T (p.Gly153=)
NM_001374385.1(ATP8B1):c.480G>C (p.Leu160=)
NM_001374385.1(ATP8B1):c.483G>A (p.Val161=)
NM_001374385.1(ATP8B1):c.486C>T (p.Asp162=)
NM_001374385.1(ATP8B1):c.489T>C (p.Asp163=)
NM_001374385.1(ATP8B1):c.492+13C>T
NM_001374385.1(ATP8B1):c.492+20C>T
NM_001374385.1(ATP8B1):c.493-14T>C
NM_001374385.1(ATP8B1):c.493-15A>C
NM_001374385.1(ATP8B1):c.493-17C>T
NM_001374385.1(ATP8B1):c.493-18C>T
NM_001374385.1(ATP8B1):c.493-6C>T
NM_001374385.1(ATP8B1):c.495T>C (p.Ala165=)
NM_001374385.1(ATP8B1):c.525T>C (p.Asn175=)
NM_001374385.1(ATP8B1):c.531G>A (p.Thr177=)
NM_001374385.1(ATP8B1):c.54T>C (p.Asn18=)
NM_001374385.1(ATP8B1):c.554+18dup
NM_001374385.1(ATP8B1):c.555-15_555-13del
NM_001374385.1(ATP8B1):c.555-18A>G
NM_001374385.1(ATP8B1):c.555-7T>A
NM_001374385.1(ATP8B1):c.555-8A>T
NM_001374385.1(ATP8B1):c.558C>T (p.Phe186=)
NM_001374385.1(ATP8B1):c.57C>T (p.Asp19=)
NM_001374385.1(ATP8B1):c.594C>T (p.Asp198=)
NM_001374385.1(ATP8B1):c.597C>T (p.Val199=)
NM_001374385.1(ATP8B1):c.603T>C (p.Arg201=)
NM_001374385.1(ATP8B1):c.627+10C>A
NM_001374385.1(ATP8B1):c.627+10C>T
NM_001374385.1(ATP8B1):c.627+14T>G
NM_001374385.1(ATP8B1):c.627+16C>T
NM_001374385.1(ATP8B1):c.627+7_627+8del
NM_001374385.1(ATP8B1):c.628-14T>G
NM_001374385.1(ATP8B1):c.628-18G>A
NM_001374385.1(ATP8B1):c.628-18G>C
NM_001374385.1(ATP8B1):c.628-21_628-19del
NM_001374385.1(ATP8B1):c.636T>A (p.Ile212=)
NM_001374385.1(ATP8B1):c.639C>T (p.Leu213=)
NM_001374385.1(ATP8B1):c.693G>A (p.Leu231=)
NM_001374385.1(ATP8B1):c.698+10T>C
NM_001374385.1(ATP8B1):c.698+14G>A
NM_001374385.1(ATP8B1):c.698+6T>G rs763026100
NM_001374385.1(ATP8B1):c.698+9G>A
NM_001374385.1(ATP8B1):c.699-12C>T
NM_001374385.1(ATP8B1):c.699-15T>C
NM_001374385.1(ATP8B1):c.699-8T>A
NM_001374385.1(ATP8B1):c.699-8T>C
NM_001374385.1(ATP8B1):c.705C>T (p.Thr235=)
NM_001374385.1(ATP8B1):c.72C>T (p.Tyr24=)
NM_001374385.1(ATP8B1):c.750C>T (p.Leu250=)
NM_001374385.1(ATP8B1):c.762T>C (p.Asp254=)
NM_001374385.1(ATP8B1):c.765A>G (p.Thr255=)
NM_001374385.1(ATP8B1):c.766T>C (p.Leu256=)
NM_001374385.1(ATP8B1):c.781+14A>C
NM_001374385.1(ATP8B1):c.781+16G>A
NM_001374385.1(ATP8B1):c.781+17T>A
NM_001374385.1(ATP8B1):c.782-17T>A
NM_001374385.1(ATP8B1):c.782-5A>G
NM_001374385.1(ATP8B1):c.782-5A>T rs886054013
NM_001374385.1(ATP8B1):c.792A>G (p.Glu264=)
NM_001374385.1(ATP8B1):c.804C>G (p.Pro268=)
NM_001374385.1(ATP8B1):c.807T>C (p.Asn269=)
NM_001374385.1(ATP8B1):c.834A>G (p.Thr278=)
NM_001374385.1(ATP8B1):c.837A>G (p.Leu279=)
NM_001374385.1(ATP8B1):c.851C>G (p.Thr284Arg)
NM_001374385.1(ATP8B1):c.876A>G (p.Lys292=)
NM_001374385.1(ATP8B1):c.888T>C (p.Arg296=)
NM_001374385.1(ATP8B1):c.897A>C (p.Val299=)
NM_001374385.1(ATP8B1):c.897A>G (p.Val299=)
NM_001374385.1(ATP8B1):c.909C>G (p.Thr303=)
NM_001374385.1(ATP8B1):c.909C>T (p.Thr303=)
NM_001374385.1(ATP8B1):c.918C>T (p.Cys306=)
NM_001374385.1(ATP8B1):c.921C>T (p.His307=) rs747429748
NM_001374385.1(ATP8B1):c.940+17T>C
NM_001374385.1(ATP8B1):c.940+9A>G
NM_001374385.1(ATP8B1):c.9A>G (p.Thr3=)

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