NC_012920.1:m.9185T>C
|
rs199476138 |
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816 |
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817 |
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824 |
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818 |
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819 |
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820 |
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826 |
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812 |
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815 |
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822 |
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821 |
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822 |
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825 |
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122 |
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846 |
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623 |
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682 |
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617 |
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625 |
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626 |
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161 |
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)
|
rs281865136 |
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137 |
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138 |
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)
|
rs104894160 |
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139 |
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159 |
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158 |
NM_000530.6(MPZ):c.[241C>T;337G>T]
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133 |
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)
|
rs281865122 |
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845 |
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597 |
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123 |
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594 |
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124 |
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244 |
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125 |
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126 |
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130 |
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127 |
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599 |
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128 |
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128 |
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586 |
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586 |
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129 |
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131 |
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132 |
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247 |
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121 |
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823 |
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085 |
NM_001136473.1(LITAF):c.*24G>A
|
rs797044847 |
NM_001136473.1(LITAF):c.*42C>A
|
rs281865135 |
NM_001136473.1(LITAF):c.*42C>T
|
rs281865135 |
NM_001136473.1(LITAF):c.*43C>G
|
rs797044848 |
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134 |
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519 |
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520 |
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521 |
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738 |
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala)
|
rs797044801 |
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
|
rs267606621 |
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714 |
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703 |
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667 |
NM_002180.2(IGHMBP2):c.2784+1G>T
|
rs797044803 |
NM_002180.2(IGHMBP2):c.449+1G>T
|
rs797044802 |
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)
|
rs724159958 |
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)
|
rs724159994 |
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731 |
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732 |
NM_004715.4(CTDP1):c.863+389C>T
|
rs113994102 |
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718 |
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr)
|
rs781249411 |
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro)
|
rs281865140 |
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)
|
rs60261494 |
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953 |
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
NM_006158.4(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996 |
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910 |
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538 |
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910 |
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140 |
NM_006736.6(DNAJB2):c.229+1G>A
|
rs730882139 |
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351 |
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn)
|
rs104894345 |
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345 |
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287 |
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu)
|
rs121908160 |
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)
|
rs80356529 |
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403 |
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060 |
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078 |
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077 |
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080 |
NM_020956.2(PRX):c.*2156G>A
|
rs3814290 |
NM_020956.2(PRX):c.*2303del
|
rs281865062 |
NM_020956.2(PRX):c.*2350T>A
|
rs104894707 |
NM_020956.2(PRX):c.*3413C>T
|
rs104894708 |
NM_020956.2(PRX):c.247del (p.Leu83fs)
|
rs281865061 |
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144 |
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143 |
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145 |
NM_024577.3(SH3TC2):c.1178-1G>A
|
rs80338922 |
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923 |
NM_024577.3(SH3TC2):c.1747_1748delAG
|
rs80338924 |
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925 |
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926 |
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro)
|
rs80338927 |
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs)
|
rs80338919 |
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs)
|
rs80338928 |
NM_024577.3(SH3TC2):c.2491_2492delAG
|
rs80338929 |
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile)
|
rs80338930 |
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931 |
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932 |
NM_024577.3(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918 |
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro)
|
rs80338935 |
NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936 |
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937 |
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890 |
NM_024577.3(SH3TC2):c.530-2A>G
|
rs80338920 |
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934 |
NM_030973.3(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066 |
NM_033500.2(HK1):c.-390-3838G>C
|
rs797044964 |
NM_138361.5(LRSAM1):c.1913-1G>A
|
rs756880678 |
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs)
|
rs786200930 |
NM_139241.3(FGD4):c.1325G>A (p.Arg442His)
|
rs281865063 |
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile)
|
rs281865064 |
NM_139241.3(FGD4):c.1762-2A>G
|
rs281865065 |
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter)
|
rs118203974 |
NM_139241.3(FGD4):c.893T>C (p.Met298Thr)
|
rs63749871 |
NM_139241.3(FGD4):c.893T>G (p.Met298Arg)
|
rs63749871 |
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771 |
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys)
|
rs28928902 |
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642 |
NM_170707.4(LMNA):c.1908C>T (p.Ser636=)
|
rs80356814 |
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)
|
rs60864230 |
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338 |
NP_000521.1(MPZ):p.Asn116Ser
|
|
PMP22, 1.4-MB DUP
|
|