NM_130837.3(OPA1):c.1681+23A>G
|
rs200416825
|
0.00174
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_130837.3(OPA1):c.*1919T>A
|
rs867799524
|
0.00096
|
NM_130837.3(OPA1):c.*1920C>A
|
rs868274533
|
0.00095
|
NM_130837.3(OPA1):c.*2416C>T
|
rs539683627
|
0.00091
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_130837.3(OPA1):c.*1884C>T
|
rs549889830
|
0.00046
|
NM_130837.3(OPA1):c.*694C>A
|
rs190367068
|
0.00044
|
NM_130837.3(OPA1):c.*2283A>G
|
rs886058259
|
0.00043
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_130837.3(OPA1):c.*1039A>G
|
rs548278496
|
0.00039
|
NM_130837.3(OPA1):c.*863A>G
|
rs193292545
|
0.00032
|
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)
|
rs114157340
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)
|
rs190235251
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_130837.3(OPA1):c.*622C>T
|
rs750359704
|
0.00016
|
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)
|
rs150279202
|
0.00016
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_130837.3(OPA1):c.-8C>T
|
rs371988066
|
0.00012
|
NM_130837.3(OPA1):c.*2839C>T
|
rs867048244
|
0.00011
|
NM_130837.3(OPA1):c.*2902A>G
|
rs1030937333
|
0.00011
|
NM_130837.3(OPA1):c.*322G>A
|
rs886058257
|
0.00009
|
NM_130837.3(OPA1):c.-102G>A
|
rs886058255
|
0.00009
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)
|
rs368488165
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_130837.3(OPA1):c.-144T>C
|
rs1057509207
|
0.00008
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_130837.3(OPA1):c.*2801A>G
|
rs148268725
|
0.00006
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln)
|
rs147077380
|
0.00006
|
NM_130837.3(OPA1):c.-3G>A
|
rs964787052
|
0.00005
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
NM_130837.3(OPA1):c.592G>A (p.Asp198Asn)
|
rs535724954
|
0.00005
|
NM_130837.3(OPA1):c.737C>T (p.Ala246Val)
|
rs147094219
|
0.00005
|
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)
|
rs141326740
|
0.00004
|
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg)
|
rs770966290
|
0.00004
|
NM_130837.3(OPA1):c.2213G>A (p.Arg738His)
|
rs542540811
|
0.00004
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_130837.3(OPA1):c.506_508del (p.Phe169_Asp170delinsTyr)
|
rs760263649
|
0.00004
|
NM_130837.3(OPA1):c.557G>A (p.Gly186Asp)
|
rs748799408
|
0.00004
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys)
|
rs569675223
|
0.00004
|
NM_130837.3(OPA1):c.800A>G (p.Lys267Arg)
|
rs1329385935
|
0.00004
|
NM_130837.3(OPA1):c.*1266G>A
|
rs932178332
|
0.00003
|
NM_130837.3(OPA1):c.*1815T>C
|
rs570796106
|
0.00003
|
NM_130837.3(OPA1):c.*2156A>G
|
rs886058258
|
0.00003
|
NM_130837.3(OPA1):c.*2694T>A
|
rs886058262
|
0.00003
|
NM_130837.3(OPA1):c.*56C>T
|
rs564487151
|
0.00003
|
NM_130837.3(OPA1):c.*743G>C
|
rs377022565
|
0.00003
|
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala)
|
rs756981921
|
0.00003
|
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)
|
rs777179811
|
0.00003
|
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys)
|
rs772040791
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_130837.3(OPA1):c.2818C>T (p.Arg940Cys)
|
rs927450242
|
0.00003
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly)
|
rs138884045
|
0.00003
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
NM_130837.3(OPA1):c.*403T>C
|
rs779665090
|
0.00002
|
NM_130837.3(OPA1):c.*614A>G
|
rs1321516515
|
0.00002
|
NM_130837.3(OPA1):c.1166G>A (p.Gly389Asp)
|
rs863224133
|
0.00002
|
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)
|
rs146003075
|
0.00002
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)
|
rs779722414
|
0.00002
|
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro)
|
rs1467607281
|
0.00002
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys)
|
rs765208285
|
0.00002
|
NM_130837.3(OPA1):c.289C>G (p.Leu97Val)
|
rs369233231
|
0.00002
|
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
|
rs145710079
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
NM_130837.3(OPA1):c.556+2T>G
|
rs762390227
|
0.00002
|
NM_130837.3(OPA1):c.679-1G>C
|
rs762321240
|
0.00002
|
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys)
|
rs779375399
|
0.00002
|
NM_130837.3(OPA1):c.715A>T (p.Ile239Phe)
|
rs1407152640
|
0.00002
|
NM_130837.3(OPA1):c.740G>A (p.Arg247His)
|
rs138350727
|
0.00002
|
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
|
rs774668971
|
0.00002
|
NM_130837.3(OPA1):c.964A>G (p.Met322Val)
|
rs938874214
|
0.00002
|
NM_130837.3(OPA1):c.*1131C>T
|
rs1004141070
|
0.00001
|
NM_130837.3(OPA1):c.*1581A>C
|
rs976048011
|
0.00001
|
NM_130837.3(OPA1):c.*2241A>G
|
rs778074372
|
0.00001
|
NM_130837.3(OPA1):c.*2861A>G
|
rs1456505503
|
0.00001
|
NM_130837.3(OPA1):c.*341G>T
|
rs1042977453
|
0.00001
|
NM_130837.3(OPA1):c.*5+1G>T
|
rs1250028962
|
0.00001
|
NM_130837.3(OPA1):c.-10C>T
|
rs775614028
|
0.00001
|
NM_130837.3(OPA1):c.1036-9T>C
|
rs531187028
|
0.00001
|
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln)
|
rs372878876
|
0.00001
|
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys)
|
rs552243068
|
0.00001
|
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln)
|
rs866025924
|
0.00001
|
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser)
|
rs1057524630
|
0.00001
|
NM_130837.3(OPA1):c.1234G>A (p.Ala412Thr)
|
rs190223702
|
0.00001
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_130837.3(OPA1):c.1300C>T (p.Pro434Ser)
|
rs762004680
|
0.00001
|
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile)
|
rs377726977
|
0.00001
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
NM_130837.3(OPA1):c.1555T>C (p.Phe519Leu)
|
rs757786063
|
0.00001
|
NM_130837.3(OPA1):c.1608+5G>A
|
rs376673283
|
0.00001
|
NM_130837.3(OPA1):c.1630A>G (p.Lys544Glu)
|
rs201301622
|
0.00001
|
NM_130837.3(OPA1):c.1744A>C (p.Lys582Gln)
|
rs766935532
|
0.00001
|
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile)
|
rs146601330
|
0.00001
|
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)
|
rs750775588
|
0.00001
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr)
|
rs1713442826
|
0.00001
|
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys)
|
rs1714040834
|
0.00001
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
NM_130837.3(OPA1):c.2251A>G (p.Ile751Val)
|
rs961676005
|
0.00001
|
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser)
|
rs749143995
|
0.00001
|
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)
|
rs762258708
|
0.00001
|
NM_130837.3(OPA1):c.2452A>G (p.Ile818Val)
|
rs771263962
|
0.00001
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln)
|
rs954754062
|
0.00001
|
NM_130837.3(OPA1):c.2647G>A (p.Val883Ile)
|
rs773078058
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130837.3(OPA1):c.2735G>A (p.Arg912Gln)
|
rs1215497493
|
0.00001
|
NM_130837.3(OPA1):c.2938A>G (p.Ile980Val)
|
rs1716777737
|
0.00001
|
NM_130837.3(OPA1):c.2960G>A (p.Arg987His)
|
rs1160551128
|
0.00001
|
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)
|
rs1166323851
|
0.00001
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)
|
rs371943668
|
0.00001
|
NM_130837.3(OPA1):c.302G>A (p.Arg101His)
|
rs201856560
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_130837.3(OPA1):c.312A>G (p.Ile104Met)
|
rs755117948
|
0.00001
|
NM_130837.3(OPA1):c.326T>C (p.Val109Ala)
|
rs77173739
|
0.00001
|
NM_130837.3(OPA1):c.380C>T (p.Pro127Leu)
|
rs772551106
|
0.00001
|
NM_130837.3(OPA1):c.464C>T (p.Ala155Val)
|
rs751318725
|
0.00001
|
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile)
|
rs760770105
|
0.00001
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
NM_130837.3(OPA1):c.531C>A (p.Ser177Arg)
|
rs727504057
|
0.00001
|
NM_130837.3(OPA1):c.559C>T (p.His187Tyr)
|
rs374756648
|
0.00001
|
NM_130837.3(OPA1):c.560A>G (p.His187Arg)
|
rs1022524955
|
0.00001
|
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys)
|
rs1729303601
|
0.00001
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
NM_130837.3(OPA1):c.646C>T (p.Arg216Cys)
|
rs1489880934
|
0.00001
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
NM_130837.3(OPA1):c.784C>T (p.Arg262Cys)
|
rs767350693
|
0.00001
|
NM_130837.3(OPA1):c.789+2T>C
|
rs1731099484
|
0.00001
|
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg)
|
rs1258694003
|
0.00001
|
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)
|
rs760177302
|
0.00001
|
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr)
|
rs951002467
|
0.00001
|
NM_130837.3(OPA1):c.861C>G (p.Ile287Met)
|
rs1732782708
|
0.00001
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser)
|
rs1488795500
|
0.00001
|
NM_130837.3(OPA1):c.948+5T>G
|
rs376022570
|
0.00001
|
NM_130837.3(OPA1):c.964A>T (p.Met322Leu)
|
rs938874214
|
0.00001
|
NC_000003.11:g.(?_193354964)_(193361914_?)dup
|
|
|
NM_015560.2(OPA1):c.-182C>A
|
rs532165115
|
|
NM_130837.3(OPA1):c.*1_*5delATTAA
|
|
|
NM_130837.3(OPA1):c.*2170A>G
|
rs921945798
|
|
NM_130837.3(OPA1):c.*2234G>A
|
rs1577422301
|
|
NM_130837.3(OPA1):c.*2605_*2607del
|
rs886058260
|
|
NM_130837.3(OPA1):c.*260G>T
|
rs886058256
|
|
NM_130837.3(OPA1):c.*2692G>A
|
rs886058261
|
|
NM_130837.3(OPA1):c.*2909A>T
|
rs886058263
|
|
NM_130837.3(OPA1):c.*3147G>C
|
rs886058264
|
|
NM_130837.3(OPA1):c.*427A>T
|
rs565230692
|
|
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
|
|
|
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
|
|
|
NM_130837.3(OPA1):c.1007G>C (p.Ser336Thr)
|
rs2109011596
|
|
NM_130837.3(OPA1):c.1012A>G (p.Asn338Asp)
|
rs2109011624
|
|
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
|
|
|
NM_130837.3(OPA1):c.1019A>G (p.Gln340Arg)
|
|
|
NM_130837.3(OPA1):c.1025A>G (p.His342Arg)
|
|
|
NM_130837.3(OPA1):c.1031C>G (p.Pro344Arg)
|
|
|
NM_130837.3(OPA1):c.1035+3A>G
|
|
|
NM_130837.3(OPA1):c.1035+3_1035+4delinsGC
|
rs2109011823
|
|
NM_130837.3(OPA1):c.1036-5G>A
|
|
|
NM_130837.3(OPA1):c.1036-6G>A
|
rs1553876585
|
|
NM_130837.3(OPA1):c.1037T>A (p.Val346Asp)
|
rs1553876592
|
|
NM_130837.3(OPA1):c.1049G>T (p.Gly350Val)
|
|
|
NM_130837.3(OPA1):c.104T>C (p.Leu35Pro)
|
|
|
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)
|
rs2109014902
|
|
NM_130837.3(OPA1):c.1067A>G (p.Lys356Arg)
|
|
|
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
|
|
|
NM_130837.3(OPA1):c.1070C>T (p.Thr357Ile)
|
rs2109014949
|
|
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
|
|
|
NM_130837.3(OPA1):c.1073G>T (p.Ser358Ile)
|
|
|
NM_130837.3(OPA1):c.1091C>T (p.Ala364Val)
|
|
|
NM_130837.3(OPA1):c.1096G>C (p.Ala366Pro)
|
|
|
NM_130837.3(OPA1):c.1097C>A (p.Ala366Asp)
|
rs398124302
|
|
NM_130837.3(OPA1):c.1100G>C (p.Arg367Pro)
|
|
|
NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)
|
|
|
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
|
|
|
NM_130837.3(OPA1):c.1128G>A (p.Met376Ile)
|
|
|
NM_130837.3(OPA1):c.1132_1133insTCA (p.Met377_Thr378insIle)
|
rs2109015232
|
|
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
|
|
|
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
|
rs1475478496
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1144G>A (p.Val382Ile)
|
|
|
NM_130837.3(OPA1):c.1149+3A>T
|
rs1733207545
|
|
NM_130837.3(OPA1):c.1149+5G>A
|
|
|
NM_130837.3(OPA1):c.1149G>T (p.Lys383Asn)
|
rs1560365123
|
|
NM_130837.3(OPA1):c.1151T>G (p.Val384Gly)
|
|
|
NM_130837.3(OPA1):c.1165G>A (p.Gly389Ser)
|
|
|
NM_130837.3(OPA1):c.116G>A (p.Ser39Asn)
|
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1177G>T (p.Val393Leu)
|
|
|
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu)
|
rs1057517999
|
|
NM_130837.3(OPA1):c.118A>G (p.Ile40Val)
|
|
|
NM_130837.3(OPA1):c.1195A>C (p.Ser399Arg)
|
rs1553877599
|
|
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)
|
rs1180256773
|
|
NM_130837.3(OPA1):c.1223A>G (p.Glu408Gly)
|
|
|
NM_130837.3(OPA1):c.1228G>A (p.Asp410Asn)
|
|
|
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
|
|
|
NM_130837.3(OPA1):c.1248T>G (p.His416Gln)
|
|
|
NM_130837.3(OPA1):c.1285G>C (p.Gly429Arg)
|
|
|
NM_130837.3(OPA1):c.1286G>T (p.Gly429Val)
|
rs146003075
|
|
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
|
|
|
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)
|
rs1313421147
|
|
NM_130837.3(OPA1):c.1292C>T (p.Thr431Ile)
|
|
|
NM_130837.3(OPA1):c.1294G>A (p.Val432Ile)
|
|
|
NM_130837.3(OPA1):c.1294G>T (p.Val432Phe)
|
rs780922750
|
|
NM_130837.3(OPA1):c.1305+3A>G
|
|
|
NM_130837.3(OPA1):c.1305+4A>G
|
rs1734019105
|
|
NM_130837.3(OPA1):c.1306-6G>A
|
|
|
NM_130837.3(OPA1):c.1307C>A (p.Thr436Asn)
|
rs1174632014
|
|
NM_130837.3(OPA1):c.1323A>G (p.Val441=)
|
rs1014702193
|
|
NM_130837.3(OPA1):c.1345A>G (p.Met449Val)
|
|
|
NM_130837.3(OPA1):c.1359C>G (p.Asp453Glu)
|
|
|
NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)
|
|
|
NM_130837.3(OPA1):c.1369G>A (p.Val457Met)
|
rs879255594
|
|
NM_130837.3(OPA1):c.1377+5G>A
|
|
|
NM_130837.3(OPA1):c.1377+5_1377+6delinsTC
|
rs797044639
|
|
NM_130837.3(OPA1):c.1377+6T>A
|
|
|
NM_130837.3(OPA1):c.1378-3A>G
|
rs1438193216
|
|
NM_130837.3(OPA1):c.1378-4T>C
|
rs778161316
|
|
NM_130837.3(OPA1):c.1400C>T (p.Pro467Leu)
|
rs2109044362
|
|
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
|
|
|
NM_130837.3(OPA1):c.1429A>G (p.Ser477Gly)
|
rs1231502335
|
|
NM_130837.3(OPA1):c.1431C>G (p.Ser477Arg)
|
rs1553877941
|
|
NM_130837.3(OPA1):c.1448A>C (p.Asn483Thr)
|
|
|
NM_130837.3(OPA1):c.1451C>G (p.Pro484Arg)
|
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1471A>G (p.Ile491Val)
|
rs2109044723
|
|
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg)
|
rs2109046811
|
|
NM_130837.3(OPA1):c.1487T>G (p.Val496Gly)
|
rs2109046850
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
|
|
|
NM_130837.3(OPA1):c.1513G>A (p.Asp505Asn)
|
rs761655742
|
|
NM_130837.3(OPA1):c.1519G>A (p.Val507Ile)
|
|
|
NM_130837.3(OPA1):c.1545_1547del (p.Arg516del)
|
rs1199056091
|
|
NM_130837.3(OPA1):c.1550C>A (p.Thr517Asn)
|
|
|
NM_130837.3(OPA1):c.1554A>G (p.Ile518Met)
|
|
|
NM_130837.3(OPA1):c.1569A>G (p.Lys523=)
|
rs746251280
|
|
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro)
|
rs1553878150
|
|
NM_130837.3(OPA1):c.1585A>G (p.Lys529Glu)
|
rs1734177957
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
NM_130837.3(OPA1):c.1598G>T (p.Ser533Ile)
|
|
|
NM_130837.3(OPA1):c.1603A>G (p.Ser535Gly)
|
|
|
NM_130837.3(OPA1):c.1608+8C>A
|
|
|
NM_130837.3(OPA1):c.1609A>C (p.Ile537Leu)
|
|
|
NM_130837.3(OPA1):c.1619T>C (p.Ile540Thr)
|
|
|
NM_130837.3(OPA1):c.1621A>T (p.Ile541Phe)
|
|
|
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
|
rs1734453026
|
|
NM_130837.3(OPA1):c.1631A>C (p.Lys544Thr)
|
|
|
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr)
|
rs2109057610
|
|
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile)
|
rs1553878564
|
|
NM_130837.3(OPA1):c.1681+11A>G
|
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1681+5G>A
|
rs1553878576
|
|
NM_130837.3(OPA1):c.1681+6C>G
|
rs2109057744
|
|
NM_130837.3(OPA1):c.1681G>C (p.Gly561Arg)
|
|
|
NM_130837.3(OPA1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_130837.3(OPA1):c.168G>T (p.Arg56Ser)
|
|
|
NM_130837.3(OPA1):c.1691C>G (p.Ser564Cys)
|
|
|
NM_130837.3(OPA1):c.16C>G (p.Arg6Gly)
|
|
|
NM_130837.3(OPA1):c.1701T>G (p.Ile567Met)
|
rs2109058778
|
|
NM_130837.3(OPA1):c.1706C>G (p.Ala569Gly)
|
|
|
NM_130837.3(OPA1):c.1708A>G (p.Ile570Val)
|
|
|
NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)
|
|
|
NM_130837.3(OPA1):c.1714G>C (p.Glu572Gln)
|
|
|
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
|
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1725A>C (p.Glu575Asp)
|
rs1424763009
|
|
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)
|
rs538099724
|
|
NM_130837.3(OPA1):c.1747C>G (p.Leu583Val)
|
|
|
NM_130837.3(OPA1):c.1751T>G (p.Leu584Arg)
|
|
|
NM_130837.3(OPA1):c.1752A>G (p.Leu584=)
|
|
|
NM_130837.3(OPA1):c.1754+3A>T
|
|
|
NM_130837.3(OPA1):c.1871C>A (p.Ala624Glu)
|
rs1553879362
|
|
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)
|
|
|
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
|
|
|
NM_130837.3(OPA1):c.191C>T (p.Ser64Phe)
|
|
|
NM_130837.3(OPA1):c.1921C>T (p.Arg641Trp)
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.1936-10_1943dup
|
|
|
NM_130837.3(OPA1):c.1937A>G (p.Asn646Ser)
|
|
|
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
|
|
|
NM_130837.3(OPA1):c.1946T>C (p.Phe649Ser)
|
rs886042514
|
|
NM_130837.3(OPA1):c.1950_1973dup (p.Leu657_Asp658insGluLysAlaLysAsnGluIleLeu)
|
|
|
NM_130837.3(OPA1):c.1961A>G (p.Asn654Ser)
|
|
|
NM_130837.3(OPA1):c.1966A>G (p.Ile656Val)
|
|
|
NM_130837.3(OPA1):c.1976A>T (p.Glu659Val)
|
|
|
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn)
|
rs2109083949
|
|
NM_130837.3(OPA1):c.1985G>T (p.Ser662Ile)
|
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
NM_130837.3(OPA1):c.1996G>C (p.Val666Leu)
|
|
|
NM_130837.3(OPA1):c.1999A>G (p.Thr667Ala)
|
|
|
NM_130837.3(OPA1):c.2013-10_2013-8del
|
rs781060459
|
|
NM_130837.3(OPA1):c.2019A>C (p.Glu673Asp)
|
|
|
NM_130837.3(OPA1):c.2030A>G (p.Gln677Arg)
|
|
|
NM_130837.3(OPA1):c.2042A>G (p.Glu681Gly)
|
|
|
NM_130837.3(OPA1):c.2044A>G (p.Arg682Gly)
|
|
|
NM_130837.3(OPA1):c.2046A>C (p.Arg682Ser)
|
|
|
NM_130837.3(OPA1):c.2053A>G (p.Thr685Ala)
|
|
|
NM_130837.3(OPA1):c.2054C>A (p.Thr685Asn)
|
|
|
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
|
|
|
NM_130837.3(OPA1):c.2062A>C (p.Ile688Leu)
|
|
|
NM_130837.3(OPA1):c.2071A>G (p.Ile691Val)
|
|
|
NM_130837.3(OPA1):c.2075A>G (p.Tyr692Cys)
|
|
|
NM_130837.3(OPA1):c.2083G>T (p.Ala695Ser)
|
rs776520906
|
|
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val)
|
rs2109139144
|
|
NM_130837.3(OPA1):c.2087C>A (p.Ala696Glu)
|
|
|
NM_130837.3(OPA1):c.2091G>C (p.Gln697His)
|
|
|
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
|
|
|
NM_130837.3(OPA1):c.2105G>T (p.Gly702Val)
|
rs2109139264
|
|
NM_130837.3(OPA1):c.2125G>A (p.Asp709Asn)
|
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_130837.3(OPA1):c.2128A>G (p.Ile710Val)
|
|
|
NM_130837.3(OPA1):c.212G>C (p.Arg71Pro)
|
|
|
NM_130837.3(OPA1):c.2131A>C (p.Lys711Gln)
|
|
|
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr)
|
rs2109139390
|
|
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg)
|
rs1553881180
|
|
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr)
|
rs1379001496
|
|
NM_130837.3(OPA1):c.2177A>C (p.Glu726Ala)
|
rs2109139681
|
|
NM_130837.3(OPA1):c.2178G>A (p.Glu726=)
|
|
|
NM_130837.3(OPA1):c.2179-3T>C
|
|
|
NM_130837.3(OPA1):c.2179-7A>G
|
rs2109162943
|
|
NM_130837.3(OPA1):c.2194C>G (p.Leu732Val)
|
|
|
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
|
|
|
NM_130837.3(OPA1):c.2218A>G (p.Met740Val)
|
|
|
NM_130837.3(OPA1):c.2220G>A (p.Met740Ile)
|
rs2109163377
|
|
NM_130837.3(OPA1):c.2220G>T (p.Met740Ile)
|
|
|
NM_130837.3(OPA1):c.2228C>G (p.Pro743Arg)
|
rs746579947
|
|
NM_130837.3(OPA1):c.2244T>A (p.His748Gln)
|
rs2109163613
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
NM_130837.3(OPA1):c.2273C>T (p.Ala758Val)
|
|
|
NM_130837.3(OPA1):c.2274_2275inv (p.Val759Ile)
|
|
|
NM_130837.3(OPA1):c.2287A>G (p.Ser763Gly)
|
|
|
NM_130837.3(OPA1):c.2289_2306del (p.Ser763_Trp769delinsArg)
|
rs886043383
|
|
NM_130837.3(OPA1):c.2297G>A (p.Arg766Gln)
|
|
|
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)
|
rs794726939
|
|
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg)
|
rs2109164239
|
|
NM_130837.3(OPA1):c.2320G>C (p.Glu774Gln)
|
|
|
NM_130837.3(OPA1):c.2327G>A (p.Ser776Asn)
|
|
|
NM_130837.3(OPA1):c.232A>G (p.Ile78Val)
|
|
|
NM_130837.3(OPA1):c.2331+6T>A
|
|
|
NM_130837.3(OPA1):c.2332-3C>T
|
|
|
NM_130837.3(OPA1):c.2350G>A (p.Ala784Thr)
|
rs1714562883
|
|
NM_130837.3(OPA1):c.2365T>G (p.Ser789Ala)
|
|
|
NM_130837.3(OPA1):c.2368A>G (p.Ile790Val)
|
|
|
NM_130837.3(OPA1):c.238T>C (p.Tyr80His)
|
|
|
NM_130837.3(OPA1):c.2391T>G (p.Asp797Glu)
|
|
|
NM_130837.3(OPA1):c.2393C>T (p.Ala798Val)
|
|
|
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr)
|
rs2109186848
|
|
NM_130837.3(OPA1):c.2410G>C (p.Glu804Gln)
|
rs1714572413
|
|
NM_130837.3(OPA1):c.2415G>T (p.Glu805Asp)
|
|
|
NM_130837.3(OPA1):c.2416G>A (p.Ala806Thr)
|
|
|
NM_130837.3(OPA1):c.2420T>C (p.Leu807Pro)
|
rs1560035790
|
|
NM_130837.3(OPA1):c.2424G>C (p.Gln808His)
|
|
|
NM_130837.3(OPA1):c.2426C>G (p.Ala809Gly)
|
|
|
NM_130837.3(OPA1):c.2428C>T (p.Arg810Cys)
|
|
|
NM_130837.3(OPA1):c.2435A>G (p.Lys812Arg)
|
|
|
NM_130837.3(OPA1):c.2438A>G (p.Asp813Gly)
|
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
NM_130837.3(OPA1):c.2495A>G (p.Tyr832Cys)
|
|
|
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn)
|
rs2109193504
|
|
NM_130837.3(OPA1):c.254G>T (p.Arg85Leu)
|
rs35630194
|
|
NM_130837.3(OPA1):c.2552AGA[1] (p.Lys852del)
|
rs1218413866
|
|
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp)
|
rs2109231506
|
|
NM_130837.3(OPA1):c.2572GAG[1] (p.Glu859del)
|
|
|
NM_130837.3(OPA1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_130837.3(OPA1):c.2597G>A (p.Ser866Asn)
|
|
|
NM_130837.3(OPA1):c.2600A>G (p.Asp867Gly)
|
|
|
NM_130837.3(OPA1):c.2639G>C (p.Gly880Ala)
|
|
|
NM_130837.3(OPA1):c.2642T>C (p.Val881Ala)
|
|
|
NM_130837.3(OPA1):c.2648T>C (p.Val883Ala)
|
|
|
NM_130837.3(OPA1):c.2661+4A>C
|
|
|
NM_130837.3(OPA1):c.2661+6A>G
|
rs2109232299
|
|
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys)
|
rs1728788655
|
|
NM_130837.3(OPA1):c.2687A>G (p.Tyr896Cys)
|
|
|
NM_130837.3(OPA1):c.2693_2695del (p.Arg898_His899delinsAsn)
|
|
|
NM_130837.3(OPA1):c.2721T>G (p.His907Gln)
|
rs767354521
|
|
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly)
|
rs1085307621
|
|
NM_130837.3(OPA1):c.2735G>T (p.Arg912Leu)
|
|
|
NM_130837.3(OPA1):c.274A>G (p.Arg92Gly)
|
|
|
NM_130837.3(OPA1):c.2767G>A (p.Val923Ile)
|
rs780773698
|
|
NM_130837.3(OPA1):c.2778+3A>G
|
|
|
NM_130837.3(OPA1):c.2778+4A>G
|
rs2109254338
|
|
NM_130837.3(OPA1):c.2778G>A (p.Glu926=)
|
|
|
NM_130837.3(OPA1):c.2779-12T>C
|
|
|
NM_130837.3(OPA1):c.2779-9_2779-7del
|
rs2109267687
|
|
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser)
|
rs767232015
|
|
NM_130837.3(OPA1):c.2792A>G (p.Asp931Gly)
|
|
|
NM_130837.3(OPA1):c.2808G>C (p.Trp936Cys)
|
|
|
NM_130837.3(OPA1):c.2809C>T (p.Arg937Cys)
|
|
|
NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)
|
|
|
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
|
|
|
NM_130837.3(OPA1):c.2827G>T (p.Ala943Ser)
|
|
|
NM_130837.3(OPA1):c.2836G>A (p.Ala946Thr)
|
|
|
NM_130837.3(OPA1):c.283A>G (p.Thr95Ala)
|
|
|
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr)
|
rs750518068
|
|
NM_130837.3(OPA1):c.2857C>T (p.Leu953Phe)
|
|
|
NM_130837.3(OPA1):c.2867C>T (p.Thr956Ile)
|
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
NM_130837.3(OPA1):c.2879G>A (p.Arg960Gln)
|
rs763280368
|
|
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly)
|
rs863224138
|
|
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
|
|
|
NM_130837.3(OPA1):c.289C>T (p.Leu97Phe)
|
|
|
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2912A>T (p.Asp971Val)
|
|
|
NM_130837.3(OPA1):c.2916T>G (p.Phe972Leu)
|
|
|
NM_130837.3(OPA1):c.2924A>C (p.Asp975Ala)
|
|
|
NM_130837.3(OPA1):c.2926G>T (p.Gly976Cys)
|
rs752986280
|
|
NM_130837.3(OPA1):c.2930AGA[2] (p.Lys979del)
|
|
|
NM_130837.3(OPA1):c.2945T>G (p.Leu982Trp)
|
rs2109277811
|
|
NM_130837.3(OPA1):c.2951C>G (p.Thr984Ser)
|
rs2109277839
|
|
NM_130837.3(OPA1):c.2954G>A (p.Gly985Asp)
|
rs2109277876
|
|
NM_130837.3(OPA1):c.2966A>G (p.Gln989Arg)
|
|
|
NM_130837.3(OPA1):c.2972C>T (p.Ala991Val)
|
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
NM_130837.3(OPA1):c.2982C>T (p.Leu994=)
|
|
|
NM_130837.3(OPA1):c.2983+6T>A
|
rs1577335678
|
|
NM_130837.3(OPA1):c.2983+6T>C
|
rs1577335678
|
|
NM_130837.3(OPA1):c.2984-1G>C
|
|
|
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del)
|
rs2109460418
|
|
NM_130837.3(OPA1):c.298C>G (p.Leu100Val)
|
|
|
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
|
|
|
NM_130837.3(OPA1):c.3010C>A (p.Leu1004Ile)
|
|
|
NM_130837.3(OPA1):c.3010C>G (p.Leu1004Val)
|
|
|
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter)
|
rs1553797598
|
|
NM_130837.3(OPA1):c.301C>A (p.Arg101Ser)
|
rs371943668
|
|
NM_130837.3(OPA1):c.3029C>T (p.Ala1010Val)
|
|
|
NM_130837.3(OPA1):c.302G>T (p.Arg101Leu)
|
|
|
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro)
|
rs2109460739
|
|
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln)
|
rs2109460771
|
|
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser)
|
rs530896300
|
|
NM_130837.3(OPA1):c.316G>C (p.Gly106Arg)
|
|
|
NM_130837.3(OPA1):c.318A>T (p.Gly106=)
|
rs2108865723
|
|
NM_130837.3(OPA1):c.32+24C>G
|
|
|
NM_130837.3(OPA1):c.320C>T (p.Ser107Leu)
|
|
|
NM_130837.3(OPA1):c.323C>T (p.Ala108Val)
|
rs2108865778
|
|
NM_130837.3(OPA1):c.334G>A (p.Gly112Ser)
|
|
|
NM_130837.3(OPA1):c.363G>T (p.Gln121His)
|
|
|
NM_130837.3(OPA1):c.364T>C (p.Trp122Arg)
|
|
|
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
|
|
|
NM_130837.3(OPA1):c.37G>A (p.Val13Ile)
|
|
|
NM_130837.3(OPA1):c.389G>A (p.Ser130Asn)
|
|
|
NM_130837.3(OPA1):c.38T>G (p.Val13Gly)
|
|
|
NM_130837.3(OPA1):c.392A>G (p.Glu131Gly)
|
|
|
NM_130837.3(OPA1):c.402G>T (p.Trp134Cys)
|
rs1478806927
|
|
NM_130837.3(OPA1):c.410C>G (p.Pro137Arg)
|
|
|
NM_130837.3(OPA1):c.415A>G (p.Ile139Val)
|
rs2108869216
|
|
NM_130837.3(OPA1):c.417T>G (p.Ile139Met)
|
rs1446797783
|
|
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
|
|
|
NM_130837.3(OPA1):c.429T>C (p.Ile143=)
|
rs761336580
|
|
NM_130837.3(OPA1):c.429TGA[1] (p.Asp144del)
|
rs2108869312
|
|
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
|
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys)
|
rs2108869401
|
|
NM_130837.3(OPA1):c.449-12_449-5del
|
rs2108877798
|
|
NM_130837.3(OPA1):c.455T>A (p.Ile152Asn)
|
rs2108877878
|
|
NM_130837.3(OPA1):c.469C>T (p.Pro157Ser)
|
|
|
NM_130837.3(OPA1):c.472_473delinsGA (p.Ser158Asp)
|
|
|
NM_130837.3(OPA1):c.500C>T (p.Pro167Leu)
|
|
|
NM_130837.3(OPA1):c.502G>C (p.Asp168His)
|
|
|
NM_130837.3(OPA1):c.504C>G (p.Asp168Glu)
|
|
|
NM_130837.3(OPA1):c.508G>A (p.Asp170Asn)
|
|
|
NM_130837.3(OPA1):c.516T>G (p.Ile172Met)
|
rs863224126
|
|
NM_130837.3(OPA1):c.520G>A (p.Glu174Lys)
|
rs2108878224
|
|
NM_130837.3(OPA1):c.52G>C (p.Val18Leu)
|
rs2108864324
|
|
NM_130837.3(OPA1):c.539A>G (p.Lys180Arg)
|
|
|
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu)
|
rs769335936
|
|
NM_130837.3(OPA1):c.556+3A>G
|
|
|
NM_130837.3(OPA1):c.557-1G>C
|
|
|
NM_130837.3(OPA1):c.558T>G (p.Gly186=)
|
|
|
NM_130837.3(OPA1):c.572G>A (p.Ser191Asn)
|
|
|
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp)
|
rs2108882278
|
|
NM_130837.3(OPA1):c.580A>C (p.Ile194Leu)
|
rs368853243
|
|
NM_130837.3(OPA1):c.580A>G (p.Ile194Val)
|
rs368853243
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
NM_130837.3(OPA1):c.5G>T (p.Trp2Leu)
|
|
|
NM_130837.3(OPA1):c.604_605del (p.Leu202fs)
|
rs886043124
|
|
NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
|
NM_130837.3(OPA1):c.610+5G>C
|
|
|
NM_130837.3(OPA1):c.611-8_611-3del
|
rs1553872701
|
|
NM_130837.3(OPA1):c.611G>C (p.Gly204Ala)
|
|
|
NM_130837.3(OPA1):c.632T>C (p.Phe211Ser)
|
|
|
NM_130837.3(OPA1):c.634A>G (p.Arg212Gly)
|
|
|
NM_130837.3(OPA1):c.636A>C (p.Arg212Ser)
|
|
|
NM_130837.3(OPA1):c.640A>G (p.Thr214Ala)
|
|
|
NM_130837.3(OPA1):c.641C>G (p.Thr214Arg)
|
rs1198238586
|
|
NM_130837.3(OPA1):c.665A>G (p.Lys222Arg)
|
rs1729522355
|
|
NM_130837.3(OPA1):c.674G>A (p.Arg225Lys)
|
rs2108889398
|
|
NM_130837.3(OPA1):c.679-3C>T
|
rs1392546160
|
|
NM_130837.3(OPA1):c.679-4G>T
|
rs757018661
|
|
NM_130837.3(OPA1):c.679G>T (p.Gly227Cys)
|
|
|
NM_130837.3(OPA1):c.685C>A (p.Leu229Ile)
|
rs764955203
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
NM_130837.3(OPA1):c.706C>G (p.Gln236Glu)
|
rs779375399
|
|
NM_130837.3(OPA1):c.706C>T (p.Gln236Ter)
|
|
|
NM_130837.3(OPA1):c.706CAA[2] (p.Gln238del)
|
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
NM_130837.3(OPA1):c.718C>A (p.Gln240Lys)
|
|
|
NM_130837.3(OPA1):c.718C>G (p.Gln240Glu)
|
|
|
NM_130837.3(OPA1):c.718C>T (p.Gln240Ter)
|
|
|
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
|
|
|
NM_130837.3(OPA1):c.727G>A (p.Glu243Lys)
|
|
|
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
|
|
|
NM_130837.3(OPA1):c.742A>G (p.Arg248Gly)
|
|
|
NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)
|
|
|
NM_130837.3(OPA1):c.748del (p.Ala250fs)
|
rs1262868695
|
|
NM_130837.3(OPA1):c.755A>C (p.Gln252Pro)
|
|
|
NM_130837.3(OPA1):c.772G>C (p.Ala258Pro)
|
|
|
NM_130837.3(OPA1):c.778C>T (p.Gln260Ter)
|
|
|
NM_130837.3(OPA1):c.77G>A (p.Gly26Glu)
|
rs1473275837
|
|
NM_130837.3(OPA1):c.780_781del (p.Lys261fs)
|
rs954901985
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
NM_130837.3(OPA1):c.785G>T (p.Arg262Leu)
|
rs201202646
|
|
NM_130837.3(OPA1):c.790G>A (p.Val264Met)
|
rs1385422732
|
|
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu)
|
rs1553875179
|
|
NM_130837.3(OPA1):c.830T>C (p.Leu277Pro)
|
|
|
NM_130837.3(OPA1):c.843+4dup
|
|
|
NM_130837.3(OPA1):c.843+5T>C
|
|
|
NM_130837.3(OPA1):c.86C>A (p.Pro29Gln)
|
|
|
NM_130837.3(OPA1):c.895A>G (p.Arg299Gly)
|
rs2109002496
|
|
NM_130837.3(OPA1):c.926G>A (p.Gly309Asp)
|
|
|
NM_130837.3(OPA1):c.943C>G (p.Leu315Val)
|
rs866764665
|
|
NM_130837.3(OPA1):c.94A>C (p.Lys32Gln)
|
|
|
NM_130837.3(OPA1):c.953C>A (p.Ser318Tyr)
|
|
|
NM_130837.3(OPA1):c.962A>C (p.Asp321Ala)
|
rs1335020558
|
|
NM_130837.3(OPA1):c.962A>G (p.Asp321Gly)
|
|
|
NM_130837.3(OPA1):c.977T>C (p.Val326Ala)
|
rs760938906
|
|
NM_130837.3(OPA1):c.983A>T (p.Asp328Val)
|
rs2109011482
|
|
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)
|
rs1347426414
|
|
NM_130837.3(OPA1):c.990C>T (p.Leu330=)
|
rs201242590
|
|
NM_130837.3(OPA1):c.991T>C (p.Ser331Pro)
|
|
|