ClinVar Miner

List of variants reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1848
Download table as spreadsheet
HGVS dbSNP
NM_000019.3(ACAT1):c.*258G>A rs79764488
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
NM_000019.4(ACAT1):c.238+8G>T
NM_000019.4(ACAT1):c.239-6dup
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
NM_000019.4(ACAT1):c.334+8G>A
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-5C>T rs369472868
NM_000019.4(ACAT1):c.436-7T>C rs775534544
NM_000019.4(ACAT1):c.436-8C>T
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
NM_000019.4(ACAT1):c.580-5dup
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010
NM_000019.4(ACAT1):c.72+10G>T
NM_000019.4(ACAT1):c.731-6T>C
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899
NM_000019.4(ACAT1):c.941-9T>G
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.109+8G>A
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.239-7C>T
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
NM_000116.5(TAFAZZIN):c.541+10G>A
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414
NM_000116.5(TAFAZZIN):c.584-7del rs782192927
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000191.2(HMGCL):c.-59A>C rs188188846
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
NM_000191.3(HMGCL):c.145-4A>G
NM_000191.3(HMGCL):c.145-8C>T rs369286537
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
NM_000191.3(HMGCL):c.252+10A>T
NM_000191.3(HMGCL):c.253-7T>C
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
NM_000191.3(HMGCL):c.349-10A>T rs755304948
NM_000191.3(HMGCL):c.349-8G>T
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156
NM_000191.3(HMGCL):c.498-7C>T
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
NM_000191.3(HMGCL):c.561+8C>G
NM_000191.3(HMGCL):c.562-8T>C
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061
NM_000191.3(HMGCL):c.60+7G>A
NM_000191.3(HMGCL):c.60+7G>T
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
NM_000191.3(HMGCL):c.750+8A>G
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568
NM_000191.3(HMGCL):c.876+5_876+8dup
NM_000191.3(HMGCL):c.877-7C>T
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
NM_000255.4(MMUT):c.*101G>A rs113025987
NM_000255.4(MMUT):c.*34A>G
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*57_*60del rs200007489
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
NM_000282.4(PCCA):c.106-10T>C
NM_000282.4(PCCA):c.1065+3AAC[2]
NM_000282.4(PCCA):c.1066-10G>C
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1209+10A>G
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
NM_000282.4(PCCA):c.1285-10T>C
NM_000282.4(PCCA):c.1285-12_1285-8del
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-5C>T
NM_000282.4(PCCA):c.1285-7dup
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1354-10T>C
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+18C>T
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
NM_000282.4(PCCA):c.1540+7A>G
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
NM_000282.4(PCCA):c.1643+8_1643+13del
NM_000282.4(PCCA):c.1644-9C>T
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
NM_000282.4(PCCA):c.1747-8dup
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
NM_000282.4(PCCA):c.183+7A>G
NM_000282.4(PCCA):c.183+9T>G
NM_000282.4(PCCA):c.184-10C>T
NM_000282.4(PCCA):c.184-5T>C
NM_000282.4(PCCA):c.184-6C>T rs542777393
NM_000282.4(PCCA):c.1845+10G>T
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+7A>G rs950344042
NM_000282.4(PCCA):c.18C>T (p.Val6=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2041-8T>C
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
NM_000282.4(PCCA):c.2118+10T>C
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.231+8G>A rs199996461
NM_000282.4(PCCA):c.231+9_231+13del
NM_000282.4(PCCA):c.232-6A>T
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
NM_000282.4(PCCA):c.279C>T (p.His93=)
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.300+7A>G
NM_000282.4(PCCA):c.306T>C (p.His102=)
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.415-10C>T
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.468+8G>A
NM_000282.4(PCCA):c.483C>T (p.Val161=)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
NM_000282.4(PCCA):c.638-10C>T
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.638-5G>T
NM_000282.4(PCCA):c.638-7C>T
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.717-5dup
NM_000282.4(PCCA):c.717-8T>C
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.819+10T>C
NM_000282.4(PCCA):c.820-9C>T
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.897G>C (p.Val299=)
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
NM_000282.4(PCCA):c.914+10C>G
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-6A>G
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
NM_000532.5(PCCB):c.1090+7T>C
NM_000532.5(PCCB):c.1091-6T>C
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
NM_000532.5(PCCB):c.1199-4C>T rs1361484856
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1338C>T (p.His446=)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1398+9C>T
NM_000532.5(PCCB):c.1399-10C>T
NM_000532.5(PCCB):c.1399-5C>T
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095
NM_000532.5(PCCB):c.1498+10T>C
NM_000532.5(PCCB):c.1498+8A>G
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.183+9T>C
NM_000532.5(PCCB):c.184-7A>T
NM_000532.5(PCCB):c.184-9C>T
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
NM_000532.5(PCCB):c.21G>A (p.Val7=)
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
NM_000532.5(PCCB):c.303+7G>A
NM_000532.5(PCCB):c.303+8T>A rs199769617
NM_000532.5(PCCB):c.304-4G>T
NM_000532.5(PCCB):c.304-5G>C
NM_000532.5(PCCB):c.30C>A (p.Val10=)
NM_000532.5(PCCB):c.30C>T (p.Val10=)
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070
NM_000532.5(PCCB):c.321G>C (p.Val107=)
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.384T>G (p.Val128=)
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.429+8T>C
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
NM_000532.5(PCCB):c.510G>A (p.Val170=)
NM_000532.5(PCCB):c.544-10G>A
NM_000532.5(PCCB):c.544-4G>A
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544
NM_000532.5(PCCB):c.75C>T (p.Val25=)
NM_000532.5(PCCB):c.763+8G>A
NM_000532.5(PCCB):c.763+8G>C
NM_000532.5(PCCB):c.764-10G>C
NM_000532.5(PCCB):c.764-5C>A
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.774C>T (p.His258=)
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884+10A>G
NM_000532.5(PCCB):c.885-4A>C rs535943678
NM_000532.5(PCCB):c.885-7C>T rs1427637783
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_000532.5(PCCB):c.963C>T (p.His321=)
NM_000532.5(PCCB):c.966+9C>T
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.4(CUBN):c.*330G>A
NM_001081.4(CUBN):c.*380T>C
NM_001081.4(CUBN):c.*769G>A
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001178014.1(PCCB):c.-37C>T rs145734157
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
NM_001243279.3(ACSF3):c.1126+10C>T
NM_001243279.3(ACSF3):c.1127-4G>A
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>A
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1127-9C>T
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
NM_001243279.3(ACSF3):c.1239+8A>T
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
NM_001243279.3(ACSF3):c.1366+8C>T
NM_001243279.3(ACSF3):c.1366+9C>T
NM_001243279.3(ACSF3):c.1367-36_1367-7del
NM_001243279.3(ACSF3):c.1367-4T>A
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
NM_001243279.3(ACSF3):c.1501+10C>T
NM_001243279.3(ACSF3):c.1502-10C>T
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495
NM_001243279.3(ACSF3):c.1502-8A>G
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
NM_001243279.3(ACSF3):c.1613+9G>T
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
NM_001243279.3(ACSF3):c.666+10G>A
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-7C>T
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
NM_001243279.3(ACSF3):c.822+10G>C
NM_001243279.3(ACSF3):c.823-4G>A
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.823-5C>T rs192714121
NM_001243279.3(ACSF3):c.823-8C>G
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
NM_001243279.3(ACSF3):c.978-4G>A
NM_001243279.3(ACSF3):c.978-5C>T rs767914459
NM_001243279.3(ACSF3):c.978-6G>A rs377217672
NM_001243279.3(ACSF3):c.978-6G>T
NM_001243279.3(ACSF3):c.978-7C>T rs190927208
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1786-6C>T rs191389918
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
NM_001258392.3(CLPB):c.455+8G>C rs200993434
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.646+7358T>C rs201350869
NM_001258392.3(CLPB):c.646+7371C>T
NM_001258392.3(CLPB):c.646+7G>A
NM_001258392.3(CLPB):c.647-6C>T rs1377454533
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
NM_001258392.3(CLPB):c.776-10C>A
NM_001258392.3(CLPB):c.776-10_776-8del
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971
NM_001352514.2(HLCS):c.*1324T>C rs141644229
NM_001352514.2(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1725A>G rs73398120
NM_001352514.2(HLCS):c.*1744G>A rs117270429
NM_001352514.2(HLCS):c.*19C>T rs137949852
NM_001352514.2(HLCS):c.*2624G>A rs73210780
NM_001352514.2(HLCS):c.*3247A>G rs114061673
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-9A>G rs374646852
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1961-7G>C rs145472697
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2121+10G>A
NM_001352514.2(HLCS):c.2121+8C>T
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
NM_001352514.2(HLCS):c.2450+7G>C
NM_001352514.2(HLCS):c.2451-8C>G rs373177254
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
NM_001352514.2(HLCS):c.331-7157C>T rs149104163
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.494-7G>C
NM_001352514.2(HLCS):c.494-8T>C
NM_001352514.2(HLCS):c.494-9A>G rs376397597
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077
NM_001352514.2(HLCS):c.741C>T (p.His247=)
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
NM_001352514.2(HLCS):c.762C>T (p.His254=)
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
NM_001370658.1(BTD):c.-17+7A>C
NM_001370658.1(BTD):c.-22G>A
NM_001370658.1(BTD):c.-28C>T
NM_001370658.1(BTD):c.-46T>C
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1014T>C (p.His338=)
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
NM_001370658.1(BTD):c.1188C>T (p.His396=)
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
NM_001370658.1(BTD):c.255A>C (p.Val85=)
NM_001370658.1(BTD):c.288T>C (p.His96=)
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
NM_001370658.1(BTD):c.399+8del
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-4C>T
NM_001370658.1(BTD):c.400-6C>T
NM_001370658.1(BTD):c.400-8T>C
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
NM_001370658.1(BTD):c.729G>A (p.Val243=)
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.741G>A (p.Val247=)
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
NM_001370658.1(BTD):c.843C>A (p.Val281=)
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
NM_001609.3(ACADSB):c.*1445A>T rs182952282
NM_001609.3(ACADSB):c.*1826C>T rs568834686
NM_001609.3(ACADSB):c.*1920G>T rs141894735
NM_001609.3(ACADSB):c.*2227A>G rs149926796
NM_001609.3(ACADSB):c.*30G>A rs141805585
NM_001609.3(ACADSB):c.*3130A>G rs41291348
NM_001609.3(ACADSB):c.*3907C>G rs185346880
NM_001609.3(ACADSB):c.*78C>T rs117078411
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-123G>A rs72839755
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.4(ACADSB):c.*1326A>G
NM_001609.4(ACADSB):c.*2086G>A
NM_001609.4(ACADSB):c.*2224A>G
NM_001609.4(ACADSB):c.*3517A>G
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_001609.4(ACADSB):c.511-6A>G
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
NM_001609.4(ACADSB):c.807+10G>A
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_001698.2(AUH):c.936T>C (p.Tyr312=) rs139628387
NM_001698.3(AUH):c.117G>C (p.Ser39=) rs759828827
NM_001698.3(AUH):c.198C>T (p.Gly66=) rs1268067238
NM_001698.3(AUH):c.331-8C>T
NM_001698.3(AUH):c.381A>G rs146227896
NM_001698.3(AUH):c.655+7G>A
NM_001698.3(AUH):c.864G>A (p.Val288=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.5(IVD):c.*1376G>A
NM_002225.5(IVD):c.*2235G>A
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.-48G>A rs114259808
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
NM_002225.5(IVD):c.1029C>T (p.Val343=)
NM_002225.5(IVD):c.102C>G (p.Pro34=)
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
NM_002225.5(IVD):c.1066-10C>T rs774472099
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.111T>C (p.Asp37=)
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.1138+9T>G
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1139-9T>C
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
NM_002225.5(IVD):c.144+10C>G
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.156C>G (p.Thr52=)
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.174G>A (p.Gln58=)
NM_002225.5(IVD):c.195C>T (p.Ala65=)
NM_002225.5(IVD):c.219G>A (p.Glu73=)
NM_002225.5(IVD):c.225G>A (p.Lys75=)
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252
NM_002225.5(IVD):c.234+10del
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.235-8G>A
NM_002225.5(IVD):c.252G>A (p.Leu84=)
NM_002225.5(IVD):c.264C>A (p.Gly88=)
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
NM_002225.5(IVD):c.297C>T (p.Gly99=)
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.306C>A (p.Gly102=)
NM_002225.5(IVD):c.321G>A (p.Glu107=)
NM_002225.5(IVD):c.330G>A (p.Leu110=)
NM_002225.5(IVD):c.33T>C (p.Arg11=)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.360A>G (p.Gly120=)
NM_002225.5(IVD):c.372C>T (p.Leu124=)
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
NM_002225.5(IVD):c.381T>C (p.Gly127=)
NM_002225.5(IVD):c.384C>A (p.Ala128=)
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.453G>A (p.Pro151=)
NM_002225.5(IVD):c.457-4G>A
NM_002225.5(IVD):c.457-7C>T
NM_002225.5(IVD):c.457-9T>C rs1418302146
NM_002225.5(IVD):c.459G>C (p.Leu153=)
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
NM_002225.5(IVD):c.477C>T (p.Ile159=)
NM_002225.5(IVD):c.483C>T (p.Ala161=)
NM_002225.5(IVD):c.486G>A (p.Leu162=)
NM_002225.5(IVD):c.504T>C (p.Asn168=)
NM_002225.5(IVD):c.513T>C (p.Ser171=)
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.550+10C>T
NM_002225.5(IVD):c.576C>T (p.Asn192=)
NM_002225.5(IVD):c.588C>T (p.Ile196=)
NM_002225.5(IVD):c.609C>T (p.Asp203=)
NM_002225.5(IVD):c.639G>C (p.Leu213=)
NM_002225.5(IVD):c.642T>G (p.Ala214=)
NM_002225.5(IVD):c.666C>T (p.Ile222=)
NM_002225.5(IVD):c.687+7_687+16del
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.720G>A (p.Leu240=)
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.750C>T (p.Thr250=)
NM_002225.5(IVD):c.816T>C (p.Gly272=)
NM_002225.5(IVD):c.81G>A (p.Gln27=)
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.840G>A (p.Leu280=)
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786
NM_002225.5(IVD):c.870G>A (p.Gly290=)
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.87C>G (p.Ala29=)
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.891G>T (p.Ala297=)
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078
NM_002225.5(IVD):c.912C>T (p.Pro304=)
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.921C>T (p.His307=)
NM_002225.5(IVD):c.930A>G (p.Glu310=)
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.954C>T (p.His318=)
NM_002225.5(IVD):c.957C>T (p.Phe319=)
NM_002225.5(IVD):c.960+7C>T
NM_002225.5(IVD):c.960+8G>A
NM_002225.5(IVD):c.961-6G>A rs199783007
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331
NM_005050.4(ABCD4):c.1118+9C>T rs370581068
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
NM_005050.4(ABCD4):c.1327+8C>T rs199678602
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
NM_005050.4(ABCD4):c.158-7C>A rs557930358
NM_005050.4(ABCD4):c.1637-10G>A rs201148020
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346
NM_005050.4(ABCD4):c.1752+7G>A rs376322555
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
NM_005050.4(ABCD4):c.360C>T (p.His120=)
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
NM_005050.4(ABCD4):c.425+7G>A rs375608814
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181
NM_005334.3(HCFC1):c.4942+8C>T
NM_005334.3(HCFC1):c.504-9C>T rs781961920
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.35+10A>C rs747167987
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)
NM_014362.4(HIBCH):c.79-7T>C rs201950316
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672
NM_014384.2(ACAD8):c.*494A>G rs148808998
NM_014384.2(ACAD8):c.*652C>G rs139716145
NM_014384.2(ACAD8):c.-67G>A rs112372624
NM_014384.2(ACAD8):c.110-9T>C rs371550147
NM_014384.2(ACAD8):c.1233C>T (p.Ser411=) rs146145710
NM_014384.2(ACAD8):c.380+7G>T rs1335335796
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.841+9C>T rs777635296
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.27C>T (p.Phe9=)
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) rs572820646
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)
NM_014384.3(ACAD8):c.615C>T (p.Cys205=)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.804T>C (p.Ile268=)
NM_014384.3(ACAD8):c.842-18G>A
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617
NM_015506.3(MMACHC):c.213C>T (p.His71=)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
NM_015506.3(MMACHC):c.258T>C (p.His86=)
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>G rs199889403
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
NM_015506.3(MMACHC):c.81+10T>G
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
NM_015506.3(MMACHC):c.82-10T>C
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-8C>T rs180812156
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
NM_015702.3(MMADHC):c.155-7T>C
NM_015702.3(MMADHC):c.155-8C>G
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
NM_015702.3(MMADHC):c.372+8G>A
NM_015702.3(MMADHC):c.372+8G>C
NM_015702.3(MMADHC):c.373-10dup
NM_015702.3(MMADHC):c.373-8C>A
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.479-4G>A
NM_015702.3(MMADHC):c.479-7T>A
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) rs1347714473
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) rs369822209
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015702.3(MMADHC):c.610-4G>A rs776311269
NM_015702.3(MMADHC):c.612C>T (p.Phe204=) rs1573874420
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
NM_015702.3(MMADHC):c.828A>G (p.Val276=) rs937318527
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.1189-4C>T
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513
NM_018368.4(LMBRD1):c.247-8T>A
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.405+8T>C rs375415974
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
NM_018368.4(LMBRD1):c.636+14G>T
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
NM_020166.5(MCCC1):c.1083+10T>A
NM_020166.5(MCCC1):c.1083+9A>T
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
NM_020166.5(MCCC1):c.1267+9A>G
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+7A>G rs559629034
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
NM_020166.5(MCCC1):c.165A>G (p.Ala55=)
NM_020166.5(MCCC1):c.1681+9T>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1977+7A>G
NM_020166.5(MCCC1):c.1978-8del
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.2049+10T>C
NM_020166.5(MCCC1):c.2049+9A>G
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
NM_020166.5(MCCC1):c.411A>G (p.Glu137=)
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.492-7T>C
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
NM_020166.5(MCCC1):c.640-10T>C
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.759G>A (p.Pro253=)
NM_020166.5(MCCC1):c.762-5T>C
NM_020166.5(MCCC1):c.762-9T>C
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.874-95A>G
NM_020166.5(MCCC1):c.90-7G>A
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.99G>A (p.Val33=)
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1351G>A
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*970G>A
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1072+9G>A
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
NM_022132.5(MCCC2):c.1216+8A>G
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
NM_022132.5(MCCC2):c.1488+10G>A rs190514867
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1488+9C>G
NM_022132.5(MCCC2):c.1488+9C>T
NM_022132.5(MCCC2):c.1489-16G>A
NM_022132.5(MCCC2):c.1489-4T>C
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+7G>T
NM_022132.5(MCCC2):c.1575-5G>T
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
NM_022132.5(MCCC2):c.384-8C>G
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
NM_022132.5(MCCC2):c.738+8C>A
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.739-7G>C
NM_022132.5(MCCC2):c.739-7G>T
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663
NM_022132.5(MCCC2):c.803+7C>T
NM_022132.5(MCCC2):c.803+9_803+10del
NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
NM_022132.5(MCCC2):c.904-10A>G
NM_022132.5(MCCC2):c.904-4G>T
NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
NM_022132.5(MCCC2):c.987T>C (p.Phe329=)
NM_025136.4(OPA3):c.*1340C>T rs12104391
NM_025136.4(OPA3):c.*1760C>T rs75401979
NM_025136.4(OPA3):c.*1855T>C rs146599259
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2469G>A rs115566341
NM_025136.4(OPA3):c.*2696C>G rs148705681
NM_025136.4(OPA3):c.*3222C>T rs73568980
NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*362T>C rs73942919
NM_025136.4(OPA3):c.*4794C>T rs114917731
NM_025136.4(OPA3):c.*5905G>A rs116705343
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6294A>C rs114655581
NM_025136.4(OPA3):c.*6394G>A rs151030695
NM_025136.4(OPA3):c.*7085A>G rs67373144
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560
NM_025136.4(OPA3):c.142+10A>C
NM_025136.4(OPA3):c.143-5C>T
NM_025136.4(OPA3):c.143-6C>T
NM_025136.4(OPA3):c.143-7C>T
NM_025136.4(OPA3):c.213G>A (p.Leu71=) rs1258779986
NM_025136.4(OPA3):c.216C>T (p.Asn72=) rs772750356
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
NM_025136.4(OPA3):c.237G>C (p.Leu79=) rs943536843
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583
NM_025136.4(OPA3):c.252G>A (p.Leu84=) rs757297634
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
NM_025136.4(OPA3):c.336G>A (p.Glu112=) rs146349367
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
NM_025136.4(OPA3):c.367C>A (p.Arg123=) rs1022155897
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
NM_025136.4(OPA3):c.397C>T (p.Leu133=)
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.444C>G (p.Ala148=)
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
NM_025136.4(OPA3):c.522G>A (p.Val174=)
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
NM_025136.4(OPA3):c.57C>T (p.Val19=) rs1600010212
NM_025136.4(OPA3):c.66G>T (p.Pro22=)
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
NM_025136.4(OPA3):c.87G>A (p.Glu29=)
NM_032601.4(MCEE):c.120T>C (p.Gly40=) rs373053776
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_032601.4(MCEE):c.180G>A (p.Lys60=) rs778261717
NM_032601.4(MCEE):c.304T>C (p.Leu102=)
NM_032601.4(MCEE):c.375C>T (p.Ile125=)
NM_032601.4(MCEE):c.381G>C (p.Val127=)
NM_032601.4(MCEE):c.41-13T>A
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
NM_032861.4(SERAC1):c.1166+8del
NM_032861.4(SERAC1):c.1308+7G>A rs201873667
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)
NM_032861.4(SERAC1):c.1684+7C>A
NM_032861.4(SERAC1):c.1828+10C>G rs374374755
NM_032861.4(SERAC1):c.525G>A (p.Pro175=) rs774652383
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292
NM_052845.4(MMAB):c.*1409G>A rs72650177
NM_052845.4(MMAB):c.*2186T>C rs147647465
NM_052845.4(MMAB):c.*404T>G rs148289390
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.135-4T>C
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.258G>A (p.Val86=)
NM_052845.4(MMAB):c.291-3dup
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.348+10_348+13del
NM_052845.4(MMAB):c.348+7A>G
NM_052845.4(MMAB):c.348+9C>T
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-4C>G
NM_052845.4(MMAB):c.349-8C>G
NM_052845.4(MMAB):c.349-8C>T
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.422-5_422-3del
NM_052845.4(MMAB):c.422-6C>T rs759110803
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.585-4C>G
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.644+8C>T
NM_052845.4(MMAB):c.644+9G>A
NM_052845.4(MMAB):c.645-6C>T
NM_052845.4(MMAB):c.645-8C>G
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=)
NM_145261.4(DNAJC19):c.129+7C>T
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) rs376891597
NM_145261.4(DNAJC19):c.280+2dup rs756616792
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)
NM_172250.3(MMAA):c.*1952T>C rs79927727
NM_172250.3(MMAA):c.*2364A>G rs13129907
NM_172250.3(MMAA):c.*3254A>C rs539831571
NM_172250.3(MMAA):c.*3285G>A rs142885287
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
NM_172250.3(MMAA):c.1146C>T (p.His382=)
NM_172250.3(MMAA):c.1179A>G (p.Glu393=) rs1578888894
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
NM_172250.3(MMAA):c.222C>T (p.His74=) rs1578877626
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
NM_172250.3(MMAA):c.258G>A (p.Val86=)
NM_172250.3(MMAA):c.336C>T (p.His112=)
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
NM_172250.3(MMAA):c.363G>C (p.Val121=)
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
NM_172250.3(MMAA):c.378A>G (p.Val126=)
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.440-5C>T rs759611574
NM_172250.3(MMAA):c.440-6C>T
NM_172250.3(MMAA):c.440-7A>C
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.734-8A>G rs778057240
NM_172250.3(MMAA):c.734-9C>A
NM_172250.3(MMAA):c.734-9C>T
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
NM_172250.3(MMAA):c.771T>C (p.Val257=)
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
NM_172250.3(MMAA):c.795A>C (p.Pro265=) rs767934772
NM_172250.3(MMAA):c.819+10T>A
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.969+10C>T
NM_172250.3(MMAA):c.970-5G>A rs370814663
NM_172250.3(MMAA):c.970-6C>T rs774402841
NM_172250.3(MMAA):c.972A>G (p.Val324=)

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.