NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264 |
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815 |
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020 |
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989 |
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225 |
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028 |
NM_000304.4(PMP22):c.433del (p.Leu145fs)
|
rs1567698872 |
NM_000371.3(TTR):c.148G>C (p.Val50Leu)
|
rs28933979 |
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071 |
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979 |
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070 |
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)
|
rs0 |
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601 |
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707 |
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589 |
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182 |
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149 |
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134 |
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519 |
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165 |
NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter)
|
rs0 |
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088 |
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022 |
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112 |
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621 |
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920 |
NM_006096.3(NDRG1):c.681dup (p.Ile228fs)
|
rs879254290 |
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503 |
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286 |
NM_006158.4(NEFL):c.23C>A (p.Pro8Gln)
|
rs61491953 |
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)
|
rs0 |
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)
|
rs119482082 |
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083 |
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
|
rs0 |
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
|
rs0 |
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267 |
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263 |
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268 |
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala)
|
rs28940295 |
NM_014874.3(MFN2):c.839G>A (p.Arg280His)
|
rs28940294 |
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078 |
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501 |
NM_020956.2(PRX):c.*2350T>A
|
rs104894707 |
NM_020956.2(PRX):c.*3491_*3561del
|
rs1555800610 |
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144 |
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145 |
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218 |
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)
|
rs0 |
NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs)
|
rs0 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934 |
NM_138361.5(LRSAM1):c.1815del (p.Asp607fs)
|
rs0 |
NM_138361.5(LRSAM1):c.1913-1G>A
|
rs756880678 |
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071 |
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892 |
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
|
rs0 |
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
|
rs0 |
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714 |