|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971 |
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972 |
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973 |
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974 |
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362 |
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027 |
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029 |
|
NM_000530.8(MPZ):c.116A>C (p.His39Pro)
|
rs371856018 |
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601 |
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594 |
|
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584 |
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590 |
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589 |
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589 |
|
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)
|
rs863225025 |
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790 |
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026 |
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129 |
|
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306 |
|
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
|
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln)
|
rs61735578 |
|
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=)
|
rs566204 |
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022 |
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023 |
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402 |
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401 |
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236 |
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438 |
|
NM_003680.3(YARS1):c.1218G>C (p.Leu406=)
|
rs699005 |
|
NM_004637.5(RAB7A):c.219C>T (p.Leu73=)
|
rs4548 |
|
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837 |
|
NM_014845.5(FIG4):c.1948+3A>G
|
rs10499054 |
|
NM_014845.5(FIG4):c.67-7T>C
|
rs56378532 |
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931 |
|
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp)
|
rs119103265 |
|
NM_014874.3(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967 |
|
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe)
|
rs863224969 |
|
NM_014874.3(MFN2):c.494A>G (p.His165Arg)
|
rs863224970 |
|
NM_014874.3(MFN2):c.707C>T (p.Thr236Met)
|
rs773159585 |
|
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)
|
rs863224968 |
|
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932 |
|
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577 |
|
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874 |
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149 |
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166 |
|
NM_020956.2(PRX):c.*1421G>A
|
rs117336941 |
|
NM_020956.2(PRX):c.*1688G>C
|
rs146789340 |
|
NM_020956.2(PRX):c.*2860T>C
|
rs268672 |
|
NM_020956.2(PRX):c.*2968A>G
|
rs268673 |
|
NM_020956.2(PRX):c.*3453C>G
|
rs3745202 |
|
NM_020956.2(PRX):c.306C>T (p.Thr102=)
|
rs744389 |
|
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144 |
|
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143 |
|
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923 |
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934 |
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058 |
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641 |
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338 |
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978 |
|
NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del)
|
rs139624657 |