NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
NM_005327.7(HADH):c.-38T>C
|
rs17550794
|
0.13904
|
NM_005327.7(HADH):c.257= (p.Leu86=)
|
rs4956145
|
0.13339
|
NM_005327.7(HADH):c.*109T>A
|
rs221347
|
0.07950
|
NM_005327.7(HADH):c.636+13G>A
|
rs17511214
|
0.04139
|
NM_005327.4(HADH):c.*818A>G
|
rs17511319
|
0.03973
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_005327.7(HADH):c.255C>T (p.Asn85=)
|
rs746650397
|
0.00016
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005327.7(HADH):c.144A>C (p.Ala48=)
|
rs79881095
|
0.00011
|
NM_005327.7(HADH):c.827-10C>T
|
rs372610846
|
0.00011
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005327.7(HADH):c.709+18G>A
|
rs369931989
|
0.00005
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005327.7(HADH):c.714C>T (p.Asp238=)
|
rs201739885
|
0.00003
|
NM_005327.7(HADH):c.261+17G>A
|
rs185657456
|
0.00002
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
NM_005327.7(HADH):c.827-9G>A
|
rs1363052334
|
0.00002
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
0.00001
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
|
rs137853102
|
0.00001
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
NM_005327.7(HADH):c.696G>A (p.Arg232=)
|
rs747476251
|
0.00001
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00001
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
NC_000004.11:g.(?_108911089)_(108911240_?)del
|
|
|
NC_000004.11:g.(?_108911089)_(108955513_?)del
|
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
NM_005327.7(HADH):c.117C>G (p.Gly39=)
|
|
|
NM_005327.7(HADH):c.118G>A (p.Ala40Thr)
|
rs137853101
|
|
NM_005327.7(HADH):c.120C>T (p.Ala40=)
|
|
|
NM_005327.7(HADH):c.123C>T (p.Gly41=)
|
|
|
NM_005327.7(HADH):c.126T>C (p.Ile42=)
|
|
|
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
|
|
|
NM_005327.7(HADH):c.132+15C>A
|
|
|
NM_005327.7(HADH):c.132+16T>A
|
|
|
NM_005327.7(HADH):c.132+19A>G
|
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.133-19T>C
|
|
|
NM_005327.7(HADH):c.133-20T>G
|
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
NM_005327.7(HADH):c.141A>G (p.Ala47=)
|
|
|
NM_005327.7(HADH):c.144A>T (p.Ala48=)
|
rs79881095
|
|
NM_005327.7(HADH):c.156A>G (p.Thr52=)
|
|
|
NM_005327.7(HADH):c.162G>A (p.Val54=)
|
|
|
NM_005327.7(HADH):c.163T>C (p.Leu55=)
|
|
|
NM_005327.7(HADH):c.166_169del (p.Val56fs)
|
|
|
NM_005327.7(HADH):c.180G>A (p.Glu60=)
|
|
|
NM_005327.7(HADH):c.18G>A (p.Arg6=)
|
|
|
NM_005327.7(HADH):c.203dup (p.Ile70fs)
|
|
|
NM_005327.7(HADH):c.21G>A (p.Gln7=)
|
rs886058980
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
NM_005327.7(HADH):c.237G>A (p.Lys79=)
|
rs150930917
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
NM_005327.7(HADH):c.246T>C (p.Phe82=)
|
|
|
NM_005327.7(HADH):c.249A>G (p.Ala83=)
|
|
|
NM_005327.7(HADH):c.261+10T>C
|
|
|
NM_005327.7(HADH):c.261+12T>C
|
|
|
NM_005327.7(HADH):c.261+15T>A
|
|
|
NM_005327.7(HADH):c.261+16C>A
|
|
|
NM_005327.7(HADH):c.261+16C>G
|
|
|
NM_005327.7(HADH):c.261+16C>T
|
rs71601073
|
|
NM_005327.7(HADH):c.261+18A>T
|
|
|
NM_005327.7(HADH):c.261+19T>A
|
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.261+20G>A
|
|
|
NM_005327.7(HADH):c.261+2T>A
|
|
|
NM_005327.7(HADH):c.261+7T>A
|
|
|
NM_005327.7(HADH):c.261+8C>G
|
|
|
NM_005327.7(HADH):c.261+8C>T
|
|
|
NM_005327.7(HADH):c.262-19C>T
|
rs2126229206
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_005327.7(HADH):c.262-5A>C
|
|
|
NM_005327.7(HADH):c.262-5A>G
|
|
|
NM_005327.7(HADH):c.262-6C>T
|
|
|
NM_005327.7(HADH):c.262-8T>C
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.267C>T (p.Gly89=)
|
|
|
NM_005327.7(HADH):c.271G>T (p.Glu91Ter)
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
|
|
|
NM_005327.7(HADH):c.306C>G (p.Thr102=)
|
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
NM_005327.7(HADH):c.312G>A (p.Thr104=)
|
|
|
NM_005327.7(HADH):c.315T>C (p.Asp105=)
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
NM_005327.7(HADH):c.327T>C (p.Val109=)
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
NM_005327.7(HADH):c.336C>T (p.Ser112=)
|
|
|
NM_005327.7(HADH):c.351G>A (p.Val117=)
|
|
|
NM_005327.7(HADH):c.360C>T (p.Ile120=)
|
|
|
NM_005327.7(HADH):c.366G>A (p.Glu122=)
|
|
|
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
|
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.381A>G (p.Lys127=)
|
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
NM_005327.7(HADH):c.390C>T (p.Leu130=)
|
|
|
NM_005327.7(HADH):c.39C>T (p.Ser13=)
|
|
|
NM_005327.7(HADH):c.419+12C>G
|
|
|
NM_005327.7(HADH):c.419+14G>A
|
|
|
NM_005327.7(HADH):c.419+16A>T
|
|
|
NM_005327.7(HADH):c.419+18A>G
|
|
|
NM_005327.7(HADH):c.419+19A>G
|
|
|
NM_005327.7(HADH):c.419+1G>A
|
|
|
NM_005327.7(HADH):c.419+1G>C
|
|
|
NM_005327.7(HADH):c.420-10C>T
|
|
|
NM_005327.7(HADH):c.420-17A>G
|
|
|
NM_005327.7(HADH):c.420-19C>T
|
|
|
NM_005327.7(HADH):c.420-4A>G
|
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
NM_005327.7(HADH):c.424dup (p.Thr142fs)
|
|
|
NM_005327.7(HADH):c.426A>G (p.Thr142=)
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
NM_005327.7(HADH):c.450C>T (p.Ser150=)
|
|
|
NM_005327.7(HADH):c.489A>G (p.Gln163=)
|
|
|
NM_005327.7(HADH):c.48C>T (p.Ser16=)
|
|
|
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
NM_005327.7(HADH):c.498C>T (p.Phe166=)
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
NM_005327.7(HADH):c.516del (p.Phe172fs)
|
|
|
NM_005327.7(HADH):c.525G>A (p.Val175=)
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
NM_005327.7(HADH):c.540T>C (p.Leu180=)
|
|
|
NM_005327.7(HADH):c.546+13C>T
|
|
|
NM_005327.7(HADH):c.546+15G>T
|
|
|
NM_005327.7(HADH):c.546+18dup
|
rs2126232168
|
|
NM_005327.7(HADH):c.546+9G>A
|
|
|
NM_005327.7(HADH):c.547-10G>T
|
|
|
NM_005327.7(HADH):c.547-19C>A
|
|
|
NM_005327.7(HADH):c.54C>A (p.Ala18=)
|
|
|
NM_005327.7(HADH):c.567C>T (p.Thr189=)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.594A>G (p.Val198=)
|
|
|
NM_005327.7(HADH):c.600T>C (p.Phe200=)
|
|
|
NM_005327.7(HADH):c.612A>G (p.Leu204=)
|
|
|
NM_005327.7(HADH):c.615A>G (p.Gly205=)
|
|
|
NM_005327.7(HADH):c.636+16G>A
|
|
|
NM_005327.7(HADH):c.636+16G>T
|
|
|
NM_005327.7(HADH):c.636+18T>C
|
|
|
NM_005327.7(HADH):c.636+20G>A
|
|
|
NM_005327.7(HADH):c.636+2T>C
|
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005327.7(HADH):c.636+7G>C
|
|
|
NM_005327.7(HADH):c.637-10C>T
|
|
|
NM_005327.7(HADH):c.637-18T>C
|
|
|
NM_005327.7(HADH):c.637-20T>C
|
|
|
NM_005327.7(HADH):c.637-7A>C
|
|
|
NM_005327.7(HADH):c.639C>T (p.Asp213=)
|
|
|
NM_005327.7(HADH):c.642T>C (p.Thr214=)
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
NM_005327.7(HADH):c.64del (p.Ala22fs)
|
|
|
NM_005327.7(HADH):c.651T>C (p.Phe217=)
|
|
|
NM_005327.7(HADH):c.663C>T (p.Arg221=)
|
|
|
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
|
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
NM_005327.7(HADH):c.709+17G>A
|
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005327.7(HADH):c.709+8T>A
|
rs2126237037
|
|
NM_005327.7(HADH):c.710-11T>A
|
|
|
NM_005327.7(HADH):c.710-11T>G
|
|
|
NM_005327.7(HADH):c.710-13G>A
|
|
|
NM_005327.7(HADH):c.710-14_710-11dup
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NM_005327.7(HADH):c.710-15C>T
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NM_005327.7(HADH):c.710-18C>T
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NM_005327.7(HADH):c.710-19G>A
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NM_005327.7(HADH):c.710-1G>A
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NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
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rs746680125
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NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
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rs1736337186
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NM_005327.7(HADH):c.740C>T (p.Ala247Val)
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rs1736337431
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NM_005327.7(HADH):c.756C>G (p.Ala252=)
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NM_005327.7(HADH):c.756C>T (p.Ala252=)
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NM_005327.7(HADH):c.765C>G (p.Pro255=)
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NM_005327.7(HADH):c.771C>T (p.Gly257=)
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NM_005327.7(HADH):c.774A>G (p.Pro258=)
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NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
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rs1736341112
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NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
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rs754403207
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NM_005327.7(HADH):c.810G>A (p.Thr270=)
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NM_005327.7(HADH):c.819C>T (p.Ile273=)
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NM_005327.7(HADH):c.825T>C (p.Asp275=)
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NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
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rs1736344235
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NM_005327.7(HADH):c.826+13del
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NM_005327.7(HADH):c.826+8T>C
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NM_005327.7(HADH):c.827-18C>T
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NM_005327.7(HADH):c.827-20C>G
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NM_005327.7(HADH):c.827-20C>T
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NM_005327.7(HADH):c.827-4A>C
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rs1381056065
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NM_005327.7(HADH):c.828G>A (p.Gly276=)
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NM_005327.7(HADH):c.832C>T (p.His278Tyr)
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NM_005327.7(HADH):c.846A>G (p.Ala282=)
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NM_005327.7(HADH):c.873A>G (p.Pro291=)
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NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
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NM_005327.7(HADH):c.87C>T (p.His29=)
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NM_005327.7(HADH):c.897G>A (p.Glu299=)
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NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
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rs2126215379
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NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
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NM_005327.7(HADH):c.906C>T (p.Phe302=)
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NM_005327.7(HADH):c.909C>T (p.Gly303=)
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NM_005327.7(HADH):c.921A>T (p.Gly307=)
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NM_005327.7(HADH):c.93G>A (p.Thr31=)
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NM_005327.7(HADH):c.99C>T (p.Ile33=)
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rs74428123
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