NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
|
rs545966662
|
0.00005
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
|
rs559968504
|
0.00002
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663
|
0.00001
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
|
rs1352237419
|
0.00001
|
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
|
rs1602348658
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662
|
|
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
|
rs1909079392
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623
|
|
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
|
rs755701957
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627
|
|
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
|
rs1597597527
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
rs2073510805
|
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596
|
|
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
|
rs121913585
|
|
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)
|
rs786204215
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632
|
|
NM_000530.8(MPZ):c.448+2T>G
|
rs1670257221
|
|
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
|
rs1670244293
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs)
|
rs1835476174
|
|
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)
|
rs1836372698
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.750+2T>G
|
rs76153575
|
|
NM_001005373.4(LRSAM1):c.904-2A>G
|
rs1171946884
|
|
NM_002180.3(IGHMBP2):c.1061-1G>C
|
rs1859177429
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
|
rs774653437
|
|
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
|
rs1803034177
|
|
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
|
rs1803033886
|
|
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)
|
rs587777875
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
|
rs1808869772
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_030962.4(SBF2):c.1395+1G>A
|
rs1947335024
|
|
NM_030973.4(MED25):c.135-1G>A
|
rs2073955922
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
|
rs2079512694
|
|
NM_181882.3(PRX):c.122del (p.Gly41fs)
|
rs2079512738
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|