|
NC_000001.10:g.(?_33241563)_(46663513_?)dup
|
|
|
NC_000001.11:g.(?_32775971)_(32797853_?)dup
|
|
|
NC_000001.11:g.(?_32810581)_(32811067_?)del
|
|
|
NC_000001.11:g.(?_32810591)_(32811057_?)del
|
|
|
NC_000001.11:g.11980166G>A
|
|
|
NC_000003.11:g.(?_128514201)_(128631967_?)dup
|
|
|
NC_000003.11:g.(?_179118981)_(179144008_?)dup
|
|
|
NC_000003.12:g.(?_128795358)_(128813432_?)dup
|
|
|
NC_000003.12:g.(?_179401203)_(179426210_?)dup
|
|
|
NC_000005.10:g.149063099G>A
|
|
|
NC_000005.9:g.(?_130494966)_(130501051_?)dup
|
|
|
NC_000006.12:g.(?_109825078)_(109825275_?)del
|
|
|
NC_000006.12:g.109691284C>A
|
|
|
NC_000007.13:g.(?_75931813)_(75933510_?)dup
|
|
|
NC_000007.14:g.(?_76301442)_(76304183_?)dup
|
|
|
NC_000007.14:g.30594727A>T
|
|
|
NC_000008.10:g.(?_133141489)_(134296574_?)dup
|
|
|
NC_000008.10:g.(?_24810303)_(24814049_?)dup
|
|
|
NC_000008.10:g.(?_24810313)_(24814039_?)dup
|
|
|
NC_000008.10:g.(?_74888497)_(75274233_?)dup
|
|
|
NC_000008.11:g.(?_133236171)_(133298304_?)dup
|
|
|
NC_000008.11:g.(?_74349383)_(74368110_?)dup
|
|
|
NC_000008.11:g.133297281T>G
|
|
|
NC_000008.11:g.24956763G>C
|
|
|
NC_000008.11:g.24956773G>C
|
|
|
NC_000009.12:g.(?_127454518)_(127502909_?)dup
|
|
|
NC_000009.12:g.(?_127461163)_(127473941_?)del
|
|
|
NC_000009.12:g.(?_127502774)_(127503501_?)del
|
|
|
NC_000011.10:g.(?_10028442)_(10193997_?)del
|
|
|
NC_000011.10:g.(?_10294005)_(10294079_?)dup
|
|
|
NC_000011.10:g.(?_68908125)_(68908651_?)del
|
|
|
NC_000011.10:g.(?_9807990)_(9858406_?)del
|
|
|
NC_000012.11:g.(?_32786463)_(32832419_?)dup
|
|
|
NC_000012.12:g.(?_32598477)_(32598606_?)del
|
|
|
NC_000012.12:g.(?_32633539)_(32640543_?)dup
|
|
|
NC_000012.12:g.109833410C>A
|
|
|
NC_000012.12:g.119178791C>G
|
|
|
NC_000012.12:g.119178894A>T
|
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
|
NC_000014.9:g.(?_101925141)_(101964947_?)del
|
|
|
NC_000014.9:g.(?_102026564)_(102050573_?)dup
|
|
|
NC_000014.9:g.(?_104701356)_(104703963_?)del
|
|
|
NC_000014.9:g.101964570C>T
|
|
|
NC_000016.10:g.(?_11549637)_(11556730_?)dup
|
|
|
NC_000016.9:g.(?_11643473)_(11650606_?)dup
|
|
|
NC_000019.10:g.(?_10718233)_(10759821_?)dup
|
|
|
NC_000019.10:g.(?_10718233)_(10786716_?)dup
|
|
|
NC_000019.10:g.(?_10819960)_(10823919_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10823909_?)dup
|
|
|
NC_000019.10:g.(?_10819970)_(10831057_?)dup
|
|
|
NC_000019.9:g.(?_10828899)_(10870507_?)dup
|
|
|
NC_000019.9:g.(?_10828899)_(10897402_?)dup
|
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
|
NC_000023.10:g.(?_24483553)_(24557301_?)dup
|
|
|
NC_000023.11:g.(?_24465436)_(24465581_?)del
|
|
|
NC_000023.11:g.(?_24494722)_(24539184_?)del
|
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673 |
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672 |
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034 |
|
NM_000166.6(GJB1):c.*22C>T
|
|
|
NM_000166.6(GJB1):c.*277A>G
|
|
|
NM_000166.6(GJB1):c.*402G>A
|
|
|
NM_000166.6(GJB1):c.*443G>A
|
|
|
NM_000166.6(GJB1):c.*50G>C
|
|
|
NM_000166.6(GJB1):c.-102G>A
|
|
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983 |
|
NM_000166.6(GJB1):c.-16-3C>G
|
rs1602348508 |
|
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061 |
|
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
|
rs1060500998 |
|
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
|
rs1060500998 |
|
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
|
rs1602348735 |
|
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
|
rs1602348737 |
|
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
|
rs1057518946 |
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946 |
|
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
rs1602348754 |
|
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012 |
|
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
|
rs863224612 |
|
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
|
rs1602348767 |
|
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
|
rs1602348769 |
|
NM_000166.6(GJB1):c.115del (p.Ala39fs)
|
rs1602348763 |
|
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
|
rs786204095 |
|
NM_000166.6(GJB1):c.116C>T (p.Ala39Val)
|
rs786204095 |
|
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
rs1602348779 |
|
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
rs1602348782 |
|
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
|
rs1602348786 |
|
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
|
rs1602348548 |
|
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
|
rs1602348794 |
|
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
|
rs1602348796 |
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816 |
|
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
|
rs1602348801 |
|
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
|
rs1602348804 |
|
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
|
rs1555937063 |
|
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
|
rs879253935 |
|
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
|
rs879253935 |
|
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
|
rs1602348820 |
|
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
|
rs1602348552 |
|
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
|
rs1602348828 |
|
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
|
rs1602348833 |
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817 |
|
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
|
rs1602348838 |
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445 |
|
NM_000166.6(GJB1):c.155del (p.Ile52fs)
|
rs1602348856 |
|
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
|
rs1602348863 |
|
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
|
rs1602348864 |
|
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
|
rs1602348864 |
|
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)
|
rs863224613 |
|
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
|
rs104894824 |
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824 |
|
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
|
rs1602348872 |
|
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
|
rs1602348875 |
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876 |
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077 |
|
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
|
rs1555937077 |
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082 |
|
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
|
rs1555937082 |
|
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
|
rs1602348895 |
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818 |
|
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
|
rs116840818 |
|
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
|
rs1602348897 |
|
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
|
rs1602348897 |
|
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
|
rs1602348897 |
|
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
|
rs1602348902 |
|
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
rs1602348907 |
|
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
|
rs1602348911 |
|
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
rs1602348913 |
|
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
|
rs1602348517 |
|
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
|
rs1602348917 |
|
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697 |
|
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
|
rs878853697 |
|
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
rs1602348930 |
|
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
|
rs1602348554 |
|
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
rs1602348918 |
|
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
|
rs1602348932 |
|
NM_000166.6(GJB1):c.217del (p.His73fs)
|
rs1602348937 |
|
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
|
rs772377652 |
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819 |
|
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
|
rs863224972 |
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820 |
|
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
|
rs1602348960 |
|
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
|
rs1602348557 |
|
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
|
rs199570177 |
|
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096 |
|
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
|
rs1602348971 |
|
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
|
rs1602348974 |
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157 |
|
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
|
rs1602348981 |
|
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
rs1602348981 |
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097 |
|
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
|
rs1602348559 |
|
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
|
rs876661143 |
|
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
rs1602348995 |
|
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
|
rs1602348999 |
|
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
|
rs1602349004 |
|
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
|
rs1602349004 |
|
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
rs1602349000 |
|
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
|
rs1602349007 |
|
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
|
rs1602349008 |
|
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823 |
|
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
|
rs104894823 |
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014 |
|
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
|
rs1602349014 |
|
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
|
rs1602349017 |
|
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
|
rs1602349017 |
|
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
|
rs587777877 |
|
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
|
rs1602349021 |
|
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122 |
|
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
|
rs1299325261 |
|
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
|
rs1602349045 |
|
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
|
rs1569214971 |
|
NM_000166.6(GJB1):c.271G>C (p.Val91Leu)
|
rs756928158 |
|
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
|
rs1602349050 |
|
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
|
rs1602349061 |
|
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
|
rs1602349065 |
|
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
|
rs1602349066 |
|
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
|
rs1602349068 |
|
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
|
rs1602349077 |
|
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
|
rs1602349077 |
|
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
|
rs1602348563 |
|
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
|
rs1602349087 |
|
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
|
rs1602349087 |
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095 |
|
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896 |
|
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
|
rs756000896 |
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821 |
|
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
|
rs1602349112 |
|
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
rs1602349121 |
|
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
|
rs1602349131 |
|
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
|
rs1602348519 |
|
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
|
rs1602349137 |
|
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
|
rs1602349143 |
|
NM_000166.6(GJB1):c.304_306del (p.Glu102del)
|
rs1555937135 |
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968 |
|
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)
|
rs1131691322 |
|
NM_000166.6(GJB1):c.308dup (p.Lys104fs)
|
rs1602349159 |
|
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
|
rs1602349166 |
|
NM_000166.6(GJB1):c.313del (p.Met105fs)
|
rs1602349163 |
|
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
|
rs1602348569 |
|
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
|
rs1602349183 |
|
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143 |
|
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)
|
rs1555937145 |
|
NM_000166.6(GJB1):c.332_349del (p.His111_His116del)
|
rs1602349197 |
|
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
|
rs1602349208 |
|
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)
|
rs1555936999 |
|
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
|
rs1602349226 |
|
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
rs1602349233 |
|
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
|
rs1049663989 |
|
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
rs1602349248 |
|
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119 |
|
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
|
rs1602349254 |
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995 |
|
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
|
rs1602349257 |
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820 |
|
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
|
rs1602349258 |
|
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264 |
|
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
|
rs1602349268 |
|
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
|
rs1602349272 |
|
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
|
rs1602349272 |
|
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
|
rs1602349272 |
|
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
rs1602349283 |
|
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)
|
rs1555937166 |
|
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs)
|
rs1555937168 |
|
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)
|
rs1569215263 |
|
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
|
rs1602349293 |
|
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
rs1602349299 |
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302 |
|
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
|
rs1602349302 |
|
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
|
rs1602348524 |
|
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
|
rs1602349309 |
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316 |
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322 |
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812 |
|
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
|
rs923460745 |
|
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
|
rs1569214995 |
|
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180 |
|
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
rs1602349328 |
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123 |
|
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
|
rs1602349336 |
|
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
|
rs1602349339 |
|
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
rs1602348598 |
|
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
|
rs1602349346 |
|
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
rs1602349347 |
|
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
|
rs1602349349 |
|
NM_000166.6(GJB1):c.439del (p.Ala147fs)
|
rs1602349352 |
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815 |
|
NM_000166.6(GJB1):c.43del (p.Arg15fs)
|
rs1602348594 |
|
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
|
rs1602349361 |
|
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
rs1602349369 |
|
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
|
rs1602349369 |
|
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
rs1602348605 |
|
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
|
rs1602349378 |
|
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
|
rs1602349378 |
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383 |
|
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
|
rs1602349388 |
|
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
|
rs1602349399 |
|
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
|
rs1602349399 |
|
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
|
rs1602349393 |
|
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
rs879254098 |
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984 |
|
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
|
rs1602349418 |
|
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
|
rs1602349427 |
|
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
|
rs1602349430 |
|
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
|
rs1602349430 |
|
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
|
rs1602349439 |
|
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
rs1602349441 |
|
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)
|
rs1555937194 |
|
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
|
rs1602349446 |
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197 |
|
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
|
rs1602349451 |
|
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
|
rs1602348610 |
|
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
rs1602348610 |
|
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
|
rs1602349453 |
|
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
|
rs1602349454 |
|
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
rs1602349460 |
|
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
|
rs1270518681 |
|
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
|
rs139643362 |
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912 |
|
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
|
rs1602349468 |
|
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
rs1602349473 |
|
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
|
rs1602349482 |
|
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
|
|
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
|
rs1057518780 |
|
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
|
rs1602349495 |
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370 |
|
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
|
rs748095370 |
|
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
|
rs1602349512 |
|
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
|
rs1555937009 |
|
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009 |
|
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
rs104894811 |
|
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
|
rs1555937218 |
|
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)
|
rs1555937218 |
|
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
|
rs1602349527 |
|
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
rs1602349535 |
|
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
|
rs1602349540 |
|
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
|
rs1602349545 |
|
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
|
rs1602349555 |
|
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346 |
|
NM_000166.6(GJB1):c.529G>A (p.Val177Met)
|
rs1569215351 |
|
NM_000166.6(GJB1):c.530T>A (p.Val177Glu)
|
rs1602349572 |
|
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
|
rs1602349572 |
|
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
|
rs1555937223 |
|
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)
|
rs1555937224 |
|
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
|
rs1555937224 |
|
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
rs1602349585 |
|
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
|
rs1602349591 |
|
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
|
rs1602349591 |
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822 |
|
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
rs1602349603 |
|
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
|
rs1602349610 |
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595 |
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909 |
|
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
|
rs879253909 |
|
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
|
rs876661252 |
|
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
rs1602349628 |
|
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
|
rs1602349631 |
|
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
|
rs1602349631 |
|
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
|
rs863224471 |
|
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471 |
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233 |
|
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)
|
rs1555937233 |
|
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
|
rs1602349646 |
|
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
|
rs1602349648 |
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821 |
|
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)
|
rs116840821 |
|
NM_000166.6(GJB1):c.556dup (p.Glu186fs)
|
rs1602349655 |
|
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
|
rs1602349656 |
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244 |
|
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247 |
|
NM_000166.6(GJB1):c.566T>G (p.Val189Gly)
|
rs1064794244 |
|
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)
|
rs1555937248 |
|
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
|
rs1602349676 |
|
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
|
rs1602349684 |
|
NM_000166.6(GJB1):c.574G>T (p.Val192Phe)
|
rs771579861 |
|
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
|
rs1602349696 |
|
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
|
rs1602349697 |
|
NM_000166.6(GJB1):c.590C>T (p.Ala197Val)
|
rs1569215418 |
|
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
|
rs1555937259 |
|
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
|
rs1602349716 |
|
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
|
rs772529850 |
|
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
rs1569215025 |
|
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
|
rs1569215025 |
|
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
|
rs1602349726 |
|
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
|
rs1602349726 |
|
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
|
rs1602349730 |
|
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
|
rs1602349730 |
|
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
rs1602349746 |
|
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
|
rs1602349749 |
|
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
|
rs1064795540 |
|
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
|
rs1064795540 |
|
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
|
rs104894822 |
|
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
|
rs1602349763 |
|
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
|
rs1602348633 |
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270 |
|
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
|
rs1602349768 |
|
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
|
rs1602349772 |
|
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
|
rs1602348640 |
|
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
|
rs1602348640 |
|
NM_000166.6(GJB1):c.62del (p.Gly21fs)
|
rs1602348638 |
|
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
|
rs1602349785 |
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443 |
|
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
|
rs1602349796 |
|
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
rs1602349791 |
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984 |
|
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
|
rs1602349801 |
|
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
|
rs1602349807 |
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099 |
|
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
|
rs1555937020 |
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020 |
|
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
|
rs1602349821 |
|
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
|
rs144381053 |
|
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
|
rs199834862 |
|
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814 |
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002 |
|
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
|
rs1060501002 |
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412 |
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706 |
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726 |
|
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
|
rs1602348650 |
|
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
|
rs1602348530 |
|
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
|
rs1602348654 |
|
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)
|
rs200774406 |
|
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
|
rs776206757 |
|
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
|
rs1602349901 |
|
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
|
rs1602348658 |
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662 |
|
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
|
rs1602348665 |
|
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
|
rs1602349920 |
|
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
|
rs1602349948 |
|
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
|
rs1602349951 |
|
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
|
rs587777876 |
|
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)
|
rs587777876 |
|
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
rs1602348679 |
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879 |
|
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
|
rs763991026 |
|
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
|
rs1602349984 |
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537 |
|
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
|
rs1602348537 |
|
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
|
rs1602348686 |
|
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
|
rs1602350047 |
|
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663 |
|
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)
|
rs768834663 |
|
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
|
rs866253945 |
|
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
|
rs748676943 |
|
NM_000166.6(GJB1):c.84del (p.Phe29fs)
|
rs1602348695 |
|
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
|
rs1602348703 |
|
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
|
rs104894817 |
|
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)
|
rs1555936989 |
|
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989 |
|
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)
|
rs1602348720 |
|
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
|
rs1602348722 |
|
NM_000183.3(HADHB):c.210-1G>C
|
rs200777054 |
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305 |
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036 |
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033 |
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
|
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270 |
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789 |
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
|
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466 |
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)
|
rs1469781984 |
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217 |
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245 |
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
|
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
|
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386 |
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666 |
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
|
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073 |
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
|
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
|
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
|
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262 |
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887 |
|
NM_000304.4(PMP22):c.*174G>A
|
|
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097 |
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307 |
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370 |
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176 |
|
NM_000304.4(PMP22):c.*544C>T
|
|
|
NM_000304.4(PMP22):c.*596G>T
|
|
|
NM_000304.4(PMP22):c.*63A>C
|
|
|
NM_000304.4(PMP22):c.*818T>C
|
|
|
NM_000304.4(PMP22):c.*83del
|
rs1222938795 |
|
NM_000304.4(PMP22):c.*894C>T
|
|
|
NM_000304.4(PMP22):c.*907C>A
|
|
|
NM_000304.4(PMP22):c.*911C>T
|
|
|
NM_000304.4(PMP22):c.*961C>G
|
|
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610 |
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159 |
|
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
|
rs1597632998 |
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846 |
|
NM_000304.4(PMP22):c.11del (p.Leu4fs)
|
rs1597635843 |
|
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
|
rs1597632943 |
|
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
|
rs1597632913 |
|
NM_000304.4(PMP22):c.174_178+7del
|
rs1597632803 |
|
NM_000304.4(PMP22):c.178+1G>C
|
rs1597632815 |
|
NM_000304.4(PMP22):c.179-13C>G
|
|
|
NM_000304.4(PMP22):c.179-1G>A
|
rs1597608220 |
|
NM_000304.4(PMP22):c.179-1G>C
|
rs1597608220 |
|
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225 |
|
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
|
rs1597608203 |
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682 |
|
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
|
rs1597608152 |
|
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
|
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691 |
|
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
|
rs104894620 |
|
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
|
rs940401899 |
|
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
|
rs1597608086 |
|
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
rs104894621 |
|
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
|
rs1597608049 |
|
NM_000304.4(PMP22):c.227del (p.Ser76fs)
|
rs1597608057 |
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276 |
|
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
|
rs863225027 |
|
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1])
|
|
|
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
|
rs1597607967 |
|
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
|
rs1597607967 |
|
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
|
rs1597607920 |
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
|
|
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
|
rs778693173 |
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763 |
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
|
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
|
rs1555565234 |
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713 |
|
NM_000304.4(PMP22):c.297del (p.Gly100fs)
|
rs1597607665 |
|
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
|
rs1597607651 |
|
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
|
rs1597607638 |
|
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638 |
|
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)
|
rs1567704621 |
|
NM_000304.4(PMP22):c.312del (p.Ala106fs)
|
rs1597607585 |
|
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
|
rs1597607558 |
|
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
|
rs1597607537 |
|
NM_000304.4(PMP22):c.318del (p.Gly107fs)
|
rs1597607532 |
|
NM_000304.4(PMP22):c.319+16T>G
|
rs751416357 |
|
NM_000304.4(PMP22):c.319+1G>A
|
rs1597607514 |
|
NM_000304.4(PMP22):c.320-1G>C
|
rs1597597908 |
|
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
rs1597597900 |
|
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
|
rs1597597876 |
|
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
rs759808649 |
|
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
|
rs1597597821 |
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111 |
|
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
|
rs1597597781 |
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
|
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
|
rs1597597725 |
|
NM_000304.4(PMP22):c.367del (p.Glu123fs)
|
rs1597597710 |
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622 |
|
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
rs1597597683 |
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678 |
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627 |
|
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
|
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040 |
|
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
|
rs1597597534 |
|
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
|
rs1597597445 |
|
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
|
rs1597597443 |
|
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)
|
rs775019409 |
|
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
|
rs879253954 |
|
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
|
|
|
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
|
rs28936682 |
|
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
|
rs749165928 |
|
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
|
rs773478255 |
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382 |
|
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
|
rs1597635677 |
|
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
|
rs1597635666 |
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423 |
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
|
|
NM_000304.4(PMP22):c.75_78+2del
|
rs1597635535 |
|
NM_000304.4(PMP22):c.78+1G>T
|
rs1426969421 |
|
NM_000304.4(PMP22):c.78+5G>A
|
rs1174594975 |
|
NM_000304.4(PMP22):c.79-2A>G
|
rs1597633171 |
|
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
|
rs1442525908 |
|
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
rs377335295 |
|
NM_000371.3(TTR):c.280G>C (p.Asp94His)
|
rs730881164 |
|
NM_000371.3(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435 |
|
NM_000371.3(TTR):c.368G>A (p.Arg123His)
|
rs148538950 |
|
NM_000371.3(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030 |
|
NM_000371.3(TTR):c.386C>T (p.Ala129Val)
|
rs121918092 |
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322 |
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095 |
|
NM_000399.5(EGR2):c.*145T>A
|
rs886047091 |
|
NM_000399.5(EGR2):c.*150A>G
|
|
|
NM_000399.5(EGR2):c.*230G>T
|
|
|
NM_000399.5(EGR2):c.*456G>A
|
rs886047090 |
|
NM_000399.5(EGR2):c.*618T>C
|
|
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997 |
|
NM_000399.5(EGR2):c.*655G>A
|
rs886047089 |
|
NM_000399.5(EGR2):c.*79C>A
|
|
|
NM_000399.5(EGR2):c.*919G>C
|
rs886047087 |
|
NM_000399.5(EGR2):c.-299G>A
|
|
|
NM_000399.5(EGR2):c.-64A>C
|
|
|
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)
|
rs1589080632 |
|
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)
|
rs1589080611 |
|
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.1084C>T (p.Arg362Ter)
|
rs1554853028 |
|
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
|
rs1589080524 |
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137 |
|
NM_000399.5(EGR2):c.1147G>C (p.Asp383His)
|
rs104894160 |
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139 |
|
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
|
|
|
NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer)
|
rs1589080408 |
|
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)
|
rs749558026 |
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272 |
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092 |
|
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
|
rs932803146 |
|
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095 |
|
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
|
|
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)
|
|
|
NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup)
|
rs746688326 |
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094 |
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093 |
|
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
|
|
|
NM_000399.5(EGR2):c.941A>C (p.His314Pro)
|
rs768808272 |
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472 |
|
NM_000530.8(MPZ):c.*102C>T
|
|
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471 |
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
|
NM_000530.8(MPZ):c.*341A>G
|
|
|
NM_000530.8(MPZ):c.*369C>T
|
|
|
NM_000530.8(MPZ):c.*435T>G
|
|
|
NM_000530.8(MPZ):c.*522C>A
|
|
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563 |
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474 |
|
NM_000530.8(MPZ):c.*752G>A
|
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473 |
|
NM_000530.8(MPZ):c.*903G>A
|
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608 |
|
NM_000530.8(MPZ):c.-10_-6dup
|
rs1571822935 |
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317 |
|
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596 |
|
NM_000530.8(MPZ):c.103G>C (p.Asp35His)
|
|
|
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)
|
rs864622732 |
|
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)
|
rs864622732 |
|
NM_000530.8(MPZ):c.123_125del (p.Val42del)
|
rs1571820248 |
|
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
|
|
|
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
|
rs1571820237 |
|
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186 |
|
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
|
rs121913598 |
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353 |
|
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
|
rs1571820190 |
|
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
|
rs1180998665 |
|
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
|
rs1571820161 |
|
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
|
rs1571820161 |
|
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
|
rs1571820143 |
|
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
|
|
|
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
|
rs1553259792 |
|
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
|
rs1571820129 |
|
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)
|
rs1553259790 |
|
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
|
rs1553259785 |
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092 |
|
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133 |
|
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067 |
|
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)
|
rs1341175303 |
|
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
rs1571820049 |
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845 |
|
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)
|
rs786204119 |
|
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
|
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585 |
|
NM_000530.8(MPZ):c.188_190del (p.Ser63del)
|
rs879254109 |
|
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
|
rs1571819975 |
|
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760 |
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964 |
|
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
|
rs1571819964 |
|
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
rs775361544 |
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099 |
|
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
|
rs201720099 |
|
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
|
rs1571819911 |
|
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
|
|
|
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
|
rs1571819890 |
|
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
|
rs1571819875 |
|
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540 |
|
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
|
rs573007540 |
|
NM_000530.8(MPZ):c.223del (p.Asp75fs)
|
rs1571819824 |
|
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
rs1170786711 |
|
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601 |
|
NM_000530.8(MPZ):c.235-1G>C
|
rs1571819375 |
|
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.242A>T (p.His81Leu)
|
rs121913594 |
|
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
|
rs1571819354 |
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124 |
|
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
|
rs1553259707 |
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707 |
|
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
rs1571819301 |
|
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584 |
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492 |
|
NM_000530.8(MPZ):c.276G>A (p.Val92=)
|
rs1558154193 |
|
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418 |
|
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)
|
rs1060503418 |
|
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583 |
|
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
|
rs1571819196 |
|
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
|
rs121913590 |
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589 |
|
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
rs1571819182 |
|
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)
|
rs1553259683 |
|
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
rs1017715903 |
|
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
rs1558154149 |
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125 |
|
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
|
rs1571819127 |
|
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
|
rs1571819084 |
|
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212 |
|
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
|
|
|
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
|
rs1060503420 |
|
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
|
rs1571819047 |
|
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
|
rs1468741050 |
|
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
|
rs1553259663 |
|
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663 |
|
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)
|
rs1553259662 |
|
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126 |
|
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)
|
rs267607241 |
|
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
|
rs1571818994 |
|
NM_000530.8(MPZ):c.346A>C (p.Asn116His)
|
rs267607242 |
|
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
|
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130 |
|
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
|
rs1571818972 |
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038 |
|
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
|
rs1571818948 |
|
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608 |
|
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
|
rs121913608 |
|
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656 |
|
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
|
rs1553259656 |
|
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
|
rs1571818858 |
|
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
|
rs1571818905 |
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
|
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
|
rs1571818880 |
|
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941 |
|
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
|
rs267607243 |
|
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
|
rs1571818845 |
|
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
|
rs772611598 |
|
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
|
rs1571818826 |
|
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
|
rs1571818819 |
|
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
|
rs1553259649 |
|
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
|
rs1571818800 |
|
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
|
rs1571818797 |
|
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
|
rs1553259648 |
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647 |
|
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
|
rs1571818775 |
|
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
|
rs1571818770 |
|
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)
|
rs879253858 |
|
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)
|
rs1571818752 |
|
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
rs1571818744 |
|
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
|
rs863225025 |
|
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
rs863225025 |
|
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994 |
|
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
|
rs1571818712 |
|
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
|
rs1571818702 |
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627 |
|
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)
|
rs863224449 |
|
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)
|
rs1456458087 |
|
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
|
rs750724650 |
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650 |
|
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
|
rs1571818648 |
|
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109 |
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632 |
|
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
|
rs1571818627 |
|
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
|
rs1571818614 |
|
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
|
|
NM_000530.8(MPZ):c.449-1G>A
|
rs1571818339 |
|
NM_000530.8(MPZ):c.449-1G>C
|
rs1571818339 |
|
NM_000530.8(MPZ):c.449-1G>T
|
rs1571818339 |
|
NM_000530.8(MPZ):c.449-9C>T
|
rs750530042 |
|
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
|
rs1571822805 |
|
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
|
rs1571818312 |
|
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.515T>C (p.Leu172Pro)
|
rs886045475 |
|
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
|
rs1571818114 |
|
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)
|
rs140671661 |
|
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323 |
|
NM_000530.8(MPZ):c.550C>G (p.Leu184Val)
|
rs1571818032 |
|
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
|
rs1571818007 |
|
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
|
|
|
NM_000530.8(MPZ):c.551del (p.Leu184fs)
|
rs1571818021 |
|
NM_000530.8(MPZ):c.553del (p.Arg185fs)
|
rs1571818002 |
|
NM_000530.8(MPZ):c.554del (p.Arg185fs)
|
rs1571817993 |
|
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
|
rs1571817945 |
|
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
|
|
|
NM_000530.8(MPZ):c.570del (p.Gln191fs)
|
rs1571817919 |
|
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
|
rs761291277 |
|
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054 |
|
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564 |
|
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
|
rs932826788 |
|
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
|
|
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
|
rs1571817547 |
|
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
|
rs1571817499 |
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679 |
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131 |
|
NM_000530.8(MPZ):c.645+2dup
|
rs1571817455 |
|
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132 |
|
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
|
|
|
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
|
rs1571817201 |
|
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
rs1571817197 |
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247 |
|
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
|
rs1571817154 |
|
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
|
rs1571817154 |
|
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605 |
|
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
rs1571817146 |
|
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)
|
rs755446743 |
|
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
|
|
|
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
|
rs1571817094 |
|
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
|
rs1571816993 |
|
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
|
rs1571816977 |
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121 |
|
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
|
rs281865121 |
|
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306 |
|
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
|
rs1034932344 |
|
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
|
rs771372609 |
|
NM_000902.4(MME):c.1272del (p.Arg425fs)
|
rs1060499935 |
|
NM_000902.4(MME):c.1904G>A (p.Gly635Asp)
|
rs151302020 |
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884 |
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885 |
|
NM_001005360.2(DNM2):c.*106T>C
|
rs886054144 |
|
NM_001005360.2(DNM2):c.*166G>A
|
rs886054145 |
|
NM_001005360.2(DNM2):c.*391C>T
|
rs886054147 |
|
NM_001005360.2(DNM2):c.*550G>A
|
rs886054148 |
|
NM_001005360.2(DNM2):c.*711T>C
|
rs886054149 |
|
NM_001005360.2(DNM2):c.*79G>A
|
rs550692861 |
|
NM_001005360.2(DNM2):c.*82C>T
|
rs569502521 |
|
NM_001005360.2(DNM2):c.*88C>G
|
rs886054143 |
|
NM_001005360.2(DNM2):c.-122G>A
|
rs886054139 |
|
NM_001005360.2(DNM2):c.-153G>T
|
rs886054138 |
|
NM_001005360.2(DNM2):c.-19G>T
|
rs753599004 |
|
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)
|
rs767838513 |
|
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176 |
|
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met)
|
rs879253980 |
|
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg)
|
rs1555710681 |
|
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
|
rs1280243348 |
|
NM_001005360.2(DNM2):c.1335+1G>A
|
rs1431565635 |
|
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060 |
|
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676 |
|
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
|
rs745748213 |
|
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900 |
|
NM_001005360.2(DNM2):c.1423-9C>G
|
rs371006369 |
|
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840 |
|
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140 |
|
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg)
|
rs1555712608 |
|
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val)
|
rs753402698 |
|
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035 |
|
NM_001005360.2(DNM2):c.161+3G>A
|
rs1555696272 |
|
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284 |
|
NM_001005360.2(DNM2):c.162-9C>A
|
rs200736669 |
|
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489 |
|
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522 |
|
NM_001005360.2(DNM2):c.1671+3G>C
|
rs942932745 |
|
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216 |
|
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
|
rs35365412 |
|
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
|
rs1269225724 |
|
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881 |
|
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679 |
|
NM_001005360.2(DNM2):c.177C>A (p.Arg59=)
|
rs762795230 |
|
NM_001005360.2(DNM2):c.1781+6G>T
|
rs1568318838 |
|
NM_001005360.2(DNM2):c.1782-7C>A
|
rs200843089 |
|
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203 |
|
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
|
rs1274228418 |
|
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315 |
|
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236 |
|
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln)
|
rs1568321851 |
|
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450 |
|
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)
|
rs1568283807 |
|
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
|
rs752080566 |
|
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val)
|
rs1568321953 |
|
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val)
|
rs1555716140 |
|
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn)
|
rs1437296623 |
|
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488 |
|
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367 |
|
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320 |
|
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe)
|
rs1568324227 |
|
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224 |
|
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr)
|
rs1568324267 |
|
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182 |
|
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300 |
|
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg)
|
rs1568324385 |
|
NM_001005360.2(DNM2):c.2291+4C>T
|
rs200408852 |
|
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
|
rs779394836 |
|
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
|
rs374864354 |
|
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
|
rs1599641077 |
|
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200 |
|
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
|
rs780738840 |
|
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del)
|
rs752014734 |
|
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756 |
|
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)
|
rs1285468865 |
|
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794 |
|
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
|
rs751961437 |
|
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537 |
|
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452 |
|
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro)
|
rs1253864930 |
|
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585 |
|
NM_001005360.2(DNM2):c.2544_2546delCAG
|
|
|
NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141 |
|
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354 |
|
NM_001005360.2(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117 |
|
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
|
rs144472798 |
|
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
|
rs1340636700 |
|
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
|
rs200408053 |
|
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
|
rs1014814501 |
|
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358 |
|
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632 |
|
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547 |
|
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469 |
|
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
|
rs748887276 |
|
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln)
|
rs1568294706 |
|
NM_001005360.2(DNM2):c.633C>T (p.Asp211=)
|
rs200191870 |
|
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)
|
rs542515194 |
|
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
|
rs767908123 |
|
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
|
rs148900299 |
|
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811 |
|
NM_001005360.2(DNM2):c.689-3C>T
|
rs373330742 |
|
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn)
|
rs749672066 |
|
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066 |
|
NM_001005360.2(DNM2):c.699C>T (p.Gly233=)
|
rs751844947 |
|
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu)
|
rs377159042 |
|
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
|
rs752195631 |
|
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989 |
|
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
|
rs754507545 |
|
NM_001005360.2(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988 |
|
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
|
rs138128705 |
|
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
|
rs781546006 |
|
NM_001005360.2(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378 |
|
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met)
|
rs746387165 |
|
NM_001005360.2(DNM2):c.83A>T (p.His28Leu)
|
rs774962668 |
|
NM_001005360.2(DNM2):c.850-7C>G
|
rs778548382 |
|
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)
|
rs587778235 |
|
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235 |
|
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys)
|
rs760254039 |
|
NM_001005360.2(DNM2):c.890G>A (p.Arg297His)
|
rs763894364 |
|
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser)
|
rs890297188 |
|
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys)
|
rs370636702 |
|
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209 |
|
NM_001005360.2(DNM2):c.992+4T>C
|
rs1225723240 |
|
NM_001005361.3(DNM2):c.*185A>C
|
|
|
NM_001005361.3(DNM2):c.*214C>T
|
|
|
NM_001005361.3(DNM2):c.*373G>A
|
|
|
NM_001005361.3(DNM2):c.*379C>T
|
|
|
NM_001005361.3(DNM2):c.*716C>T
|
|
|
NM_001005361.3(DNM2):c.*751T>A
|
|
|
NM_001005361.3(DNM2):c.-116C>T
|
|
|
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
|
|
|
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
|
|
|
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
|
|
|
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
|
|
|
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
|
|
|
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
|
|
|
NM_001005361.3(DNM2):c.1196+626G>A
|
|
|
NM_001005361.3(DNM2):c.1196+640G>A
|
|
|
NM_001005361.3(DNM2):c.1196+707G>C
|
|
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
|
|
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
|
|
|
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
|
|
|
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
|
|
|
NM_001005361.3(DNM2):c.1493+5G>A
|
|
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
|
|
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
|
|
|
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
|
|
|
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
|
|
|
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
|
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980 |
|
NM_001005361.3(DNM2):c.1782-7C>G
|
|
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
|
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
|
|
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
|
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
|
|
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
|
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
|
|
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
|
|
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
|
|
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
|
|
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528 |
|
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
|
|
NM_001005361.3(DNM2):c.2291+5G>A
|
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
|
|
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
|
|
|
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
|
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
|
|
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
|
|
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
|
|
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
|
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
|
|
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
|
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
|
|
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
|
|
|
NM_001005361.3(DNM2):c.2543+5G>C
|
|
|
NM_001005361.3(DNM2):c.2544-3C>T
|
|
|
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
|
|
|
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
|
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
|
|
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
|
|
|
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
|
|
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
|
|
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
|
|
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
|
|
|
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
|
|
|
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691 |
|
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
|
|
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
|
|
|
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
|
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
|
|
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
|
|
|
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
|
|
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
|
|
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
|
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
|
|
NM_001005361.3(DNM2):c.849+7C>T
|
|
|
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
|
|
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902 |
|
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
|
|
|
NM_001007792.1(NTRK1):c.1072G>A (p.Glu358Lys)
|
rs1008878777 |
|
NM_001007792.1(NTRK1):c.1366G>A (p.Glu456Lys)
|
rs144901788 |
|
NM_001007792.1(NTRK1):c.1443_1444insACATCGGG (p.Glu482fs)
|
rs1571699222 |
|
NM_001007792.1(NTRK1):c.1447G>C (p.Gly483Arg)
|
rs1571699241 |
|
NM_001007792.1(NTRK1):c.1456G>A (p.Gly486Arg)
|
rs1571699266 |
|
NM_001007792.1(NTRK1):c.1582C>T (p.Leu528Phe)
|
rs1571699773 |
|
NM_001007792.1(NTRK1):c.1625T>G (p.Val542Gly)
|
rs1571699872 |
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028 |
|
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs)
|
rs1571699945 |
|
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter)
|
rs763758904 |
|
NM_001007792.1(NTRK1):c.1759G>T (p.Gly587Cys)
|
rs778746462 |
|
NM_001007792.1(NTRK1):c.1787_1788insA (p.Ser596fs)
|
rs1571702751 |
|
NM_001007792.1(NTRK1):c.1838G>T (p.Arg613Leu)
|
rs786205449 |
|
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys)
|
rs764992664 |
|
NM_001007792.1(NTRK1):c.2181C>G (p.Cys727Trp)
|
rs1570912410 |
|
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu)
|
rs756981419 |
|
NM_001007792.1(NTRK1):c.2200C>T (p.Gln734Ter)
|
rs764816792 |
|
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs)
|
rs1570912482 |
|
NM_001007792.1(NTRK1):c.2236C>T (p.Gln746Ter)
|
rs1570912515 |
|
NM_001007792.1(NTRK1):c.406G>T (p.Gly136Ter)
|
rs1571689630 |
|
NM_001007792.1(NTRK1):c.453del (p.Leu153fs)
|
rs1485714154 |
|
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro)
|
rs747711259 |
|
NM_001007792.1(NTRK1):c.632dup (p.Gly212fs)
|
rs1571693477 |
|
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs)
|
rs1571695851 |
|
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys)
|
rs121964869 |
|
NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs)
|
rs137852736 |
|
NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter)
|
rs137852737 |
|
NM_001034850.2(RETREG1):c.873+2T>C
|
rs137852738 |
|
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739 |
|
NM_001097642.3(GJB1):c.-16-475C>G
|
|
|
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys)
|
rs750807119 |
|
NM_001113491.2(SEPTIN9):c.1476+2T>G
|
rs918808795 |
|
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val)
|
rs1598472570 |
|
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg)
|
rs1598484143 |
|
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu)
|
rs753322947 |
|
NM_001113491.2(SEPTIN9):c.19+4829C>A
|
rs1598462622 |
|
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp)
|
rs760234906 |
|
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)
|
rs199861986 |
|
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly)
|
rs1598317173 |
|
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser)
|
rs1598317232 |
|
NM_001113491.2(SEPTIN9):c.722-6324del
|
rs1598433427 |
|
NM_001113491.2(SEPTIN9):c.722-6334T>C
|
rs752934838 |
|
NM_001113491.2(SEPTIN9):c.722-6589G>C
|
rs202206729 |
|
NM_001113491.2(SEPTIN9):c.722-6624T>C
|
rs746223748 |
|
NM_001113491.2(SEPTIN9):c.722-7T>C
|
rs770521896 |
|
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr)
|
rs536822441 |
|
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His)
|
rs587781247 |
|
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT
|
rs1598444764 |
|
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
|
|
|
NM_001127660.1(MFN2):c.*1797_*1799GTT[1]
|
rs140537612 |
|
NM_001127660.1(MFN2):c.-214C>G
|
|
|
NM_001127660.1(MFN2):c.-237G>A
|
|
|
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del)
|
rs1478175861 |
|
NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del)
|
rs766213721 |
|
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573 |
|
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs)
|
rs763007983 |
|
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266 |
|
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys)
|
rs1555365597 |
|
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
|
rs146955132 |
|
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
|
rs1599366542 |
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690 |
|
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
|
rs1599366474 |
|
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
|
rs1599366076 |
|
NM_001136473.1(LITAF):c.*1007G>A
|
rs535657236 |
|
NM_001136473.1(LITAF):c.*1074A>G
|
rs886051649 |
|
NM_001136473.1(LITAF):c.*107C>T
|
rs774123275 |
|
NM_001136473.1(LITAF):c.*116G>A
|
rs371453151 |
|
NM_001136473.1(LITAF):c.*1179A>C
|
|
|
NM_001136473.1(LITAF):c.*117C>T
|
rs748017885 |
|
NM_001136473.1(LITAF):c.*118G>A
|
rs864622744 |
|
NM_001136473.1(LITAF):c.*1295A>G
|
rs886051648 |
|
NM_001136473.1(LITAF):c.*1342A>C
|
|
|
NM_001136473.1(LITAF):c.*1489A>C
|
|
|
NM_001136473.1(LITAF):c.*149C>A
|
rs571908546 |
|
NM_001136473.1(LITAF):c.*1511G>A
|
|
|
NM_001136473.1(LITAF):c.*1524C>A
|
|
|
NM_001136473.1(LITAF):c.*1547A>G
|
|
|
NM_001136473.1(LITAF):c.*1561T>G
|
|
|
NM_001136473.1(LITAF):c.*158G>A
|
|
|
NM_001136473.1(LITAF):c.*1682C>A
|
rs886051647 |
|
NM_001136473.1(LITAF):c.*17-3C>T
|
rs774213197 |
|
NM_001136473.1(LITAF):c.*17-48C>A
|
rs752383184 |
|
NM_001136473.1(LITAF):c.*173C>T
|
rs768639690 |
|
NM_001136473.1(LITAF):c.*2004A>G
|
|
|
NM_001136473.1(LITAF):c.*24G>A
|
rs797044847 |
|
NM_001136473.1(LITAF):c.*25C>T
|
rs201512884 |
|
NM_001136473.1(LITAF):c.*318G>A
|
rs886051652 |
|
NM_001136473.1(LITAF):c.*359C>A
|
|
|
NM_001136473.1(LITAF):c.*419A>T
|
rs886051651 |
|
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.*43C>T
|
rs797044848 |
|
NM_001136473.1(LITAF):c.*48T>C
|
|
|
NM_001136473.1(LITAF):c.*49G>A
|
rs144232569 |
|
NM_001136473.1(LITAF):c.*51G>A
|
rs780788687 |
|
NM_001136473.1(LITAF):c.*57G>A
|
rs754821950 |
|
NM_001136473.1(LITAF):c.*57G>C
|
rs754821950 |
|
NM_001136473.1(LITAF):c.*625A>G
|
|
|
NM_001136473.1(LITAF):c.*63C>T
|
rs1174214039 |
|
NM_001136473.1(LITAF):c.*688A>C
|
|
|
NM_001136473.1(LITAF):c.*68C>A
|
rs374918259 |
|
NM_001136473.1(LITAF):c.*69G>A
|
rs121908615 |
|
NM_001136473.1(LITAF):c.*69G>T
|
|
|
NM_001136473.1(LITAF):c.*723G>A
|
rs367546754 |
|
NM_001136473.1(LITAF):c.*848A>G
|
rs886051650 |
|
NM_001136473.1(LITAF):c.*96G>A
|
rs543022814 |
|
NM_001136473.1(LITAF):c.-6+513G>C
|
|
|
NM_001136473.1(LITAF):c.-6+539G>A
|
rs545189325 |
|
NM_001136473.1(LITAF):c.-6+618C>G
|
|
|
NM_001136473.1(LITAF):c.-6+657C>A
|
rs374282727 |
|
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004 |
|
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser)
|
rs375202318 |
|
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
|
|
|
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
|
rs758166691 |
|
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602 |
|
NM_001136473.1(LITAF):c.147G>A (p.Thr49=)
|
rs145659732 |
|
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser)
|
rs752978718 |
|
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
|
|
|
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654 |
|
NM_001136473.1(LITAF):c.159G>A (p.Gly53=)
|
rs886051653 |
|
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
|
|
|
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
|
|
|
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
|
|
|
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser)
|
rs1555466907 |
|
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser)
|
rs746577483 |
|
NM_001136473.1(LITAF):c.220+4C>T
|
|
|
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
|
rs756539992 |
|
NM_001136473.1(LITAF):c.226G>A (p.Val76Met)
|
rs371334679 |
|
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu)
|
rs371334679 |
|
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
|
rs1597329501 |
|
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
|
rs539627278 |
|
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr)
|
rs1267030887 |
|
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
|
rs375665454 |
|
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
|
|
|
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
|
|
|
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
|
rs11544251 |
|
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
|
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647 |
|
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
|
rs373445989 |
|
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
|
|
|
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134 |
|
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val)
|
rs1567235442 |
|
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
|
|
|
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
|
rs1597329148 |
|
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
|
|
|
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly)
|
|
|
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990 |
|
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr)
|
|
|
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile)
|
rs767809270 |
|
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly)
|
rs201352515 |
|
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479 |
|
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988 |
|
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445 |
|
NM_001142386.3(PDK3):c.320+6T>C
|
rs748960946 |
|
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370 |
|
NM_001142386.3(PDK3):c.474C>T (p.Arg158=)
|
rs756879455 |
|
NM_001142386.3(PDK3):c.485G>A (p.Arg162His)
|
rs867468579 |
|
NM_001142386.3(PDK3):c.486C>T (p.Arg162=)
|
rs1479754596 |
|
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822 |
|
NM_001142386.3(PDK3):c.582G>A (p.Ala194=)
|
rs144345856 |
|
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588 |
|
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273 |
|
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
|
rs373919106 |
|
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
|
|
|
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
|
rs1602487890 |
|
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729 |
|
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys)
|
rs750686775 |
|
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)
|
rs1268129848 |
|
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
|
rs1602486072 |
|
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
|
rs762901266 |
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796 |
|
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
|
|
|
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
|
rs1602485728 |
|
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
|
rs1555938741 |
|
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe)
|
rs1555938741 |
|
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)
|
rs754338828 |
|
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3])
|
rs1555938722 |
|
NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly)
|
rs766871664 |
|
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
|
|
|
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
|
|
|
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
|
rs777612473 |
|
NM_001303256.3(MORC2):c.1369+5T>A
|
|
|
NM_001303256.3(MORC2):c.1369+8_1369+9del
|
rs1602485471 |
|
NM_001303256.3(MORC2):c.1370-3C>T
|
rs770913783 |
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110 |
|
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
|
rs897870181 |
|
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
|
rs367704663 |
|
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
|
rs1602485184 |
|
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr)
|
rs1569192031 |
|
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=)
|
rs1345120667 |
|
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)
|
|
|
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
|
|
|
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)
|
rs1555938391 |
|
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
|
rs749364295 |
|
NM_001303256.3(MORC2):c.158-4A>T
|
rs763187520 |
|
NM_001303256.3(MORC2):c.158-5T>G
|
|
|
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
|
|
|
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
|
rs750003469 |
|
NM_001303256.3(MORC2):c.1605-3C>T
|
rs111618347 |
|
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
|
rs1338480863 |
|
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
|
|
|
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
|
rs756912389 |
|
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
|
rs760345377 |
|
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
|
rs770774096 |
|
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
rs548292999 |
|
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
|
rs778753246 |
|
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
|
|
|
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
|
rs200774292 |
|
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)
|
rs1214680334 |
|
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
rs1602482166 |
|
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)
|
rs1555937777 |
|
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
|
|
|
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)
|
rs1569190645 |
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969 |
|
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
|
rs1602481898 |
|
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
|
|
|
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
|
rs200703581 |
|
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)
|
rs371710965 |
|
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
|
rs763542037 |
|
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
|
|
|
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
|
|
|
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
|
rs778099643 |
|
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
|
rs563612262 |
|
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
|
|
|
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
|
rs201772330 |
|
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
|
rs560948457 |
|
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)
|
rs897158764 |
|
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
|
rs201032497 |
|
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln)
|
rs768807060 |
|
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)
|
rs780648306 |
|
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)
|
|
|
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
|
rs1602481313 |
|
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu)
|
rs760522350 |
|
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
|
|
|
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)
|
rs1555942389 |
|
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
|
rs142840638 |
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433 |
|
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del)
|
rs1247915167 |
|
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
|
|
|
NM_001303256.3(MORC2):c.227-5T>C
|
|
|
NM_001303256.3(MORC2):c.227-8C>G
|
rs773796930 |
|
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
|
rs762809030 |
|
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)
|
rs369384586 |
|
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
|
rs754626172 |
|
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
|
rs751495570 |
|
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
|
rs551185965 |
|
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
|
|
|
NM_001303256.3(MORC2):c.2380+1G>A
|
rs113045177 |
|
NM_001303256.3(MORC2):c.2380+6C>G
|
rs1555936909 |
|
NM_001303256.3(MORC2):c.2381-3C>T
|
rs1309634022 |
|
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
|
|
|
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
|
|
|
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
|
|
|
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
|
|
|
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
|
|
|
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
|
|
|
NM_001303256.3(MORC2):c.2522+3A>G
|
|
|
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn)
|
rs150980372 |
|
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)
|
rs864309504 |
|
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
|
rs1602477856 |
|
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
|
|
|
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)
|
rs1388475410 |
|
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
|
rs372199572 |
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066 |
|
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
|
|
|
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
|
rs202243108 |
|
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)
|
rs1555936530 |
|
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
|
rs1042426757 |
|
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe)
|
rs1569188333 |
|
NM_001303256.3(MORC2):c.2747+6T>C
|
rs368417146 |
|
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
rs768569356 |
|
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
|
|
|
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
|
|
|
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)
|
rs781162787 |
|
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)
|
rs1485425350 |
|
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
|
|
|
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)
|
rs771410096 |
|
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
|
rs745339848 |
|
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
|
|
|
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
|
|
|
NM_001303256.3(MORC2):c.3030+6C>G
|
rs1388656367 |
|
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
|
|
|
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala)
|
rs748216749 |
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559 |
|
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
|
rs1602496057 |
|
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
|
|
|
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
|
|
|
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
|
|
|
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
|
rs1602491814 |
|
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
|
|
|
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
|
|
|
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)
|
rs541114863 |
|
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
|
rs750265510 |
|
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)
|
rs1555940315 |
|
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
|
|
|
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
|
rs375266158 |
|
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
|
rs893153652 |
|
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
|
|
|
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)
|
rs886037934 |
|
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys)
|
rs371713427 |
|
NM_001303256.3(MORC2):c.713G>A (p.Arg238His)
|
rs367766290 |
|
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys)
|
rs1355363942 |
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503 |
|
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu)
|
rs368260550 |
|
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
|
rs1064796495 |
|
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg)
|
rs1555939986 |
|
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe)
|
rs987083509 |
|
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)
|
|
|
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met)
|
rs764379949 |
|
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
|
|
|
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)
|
rs772766261 |
|
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
|
|
|
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
|
rs369654856 |
|
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
|
|
|
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu)
|
rs199973357 |
|
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp)
|
rs558057376 |
|
NM_001303256.3(MORC2):c.988-10A>G
|
rs370880177 |
|
NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu)
|
rs886049253 |
|
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del)
|
rs1264651352 |
|
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs)
|
rs1565921326 |
|
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs)
|
rs751035912 |
|
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr)
|
rs199744649 |
|
NM_001304481.1(FGD4):c.8del (p.Gly3fs)
|
rs1357153004 |
|
NM_001316772.1(GARS1):c.-221C>T
|
rs886062271 |
|
NM_001316772.1(GARS1):c.-226C>T
|
|
|
NM_001316772.1(GARS1):c.-231T>G
|
|
|
NM_001316772.1(GARS1):c.-242C>T
|
rs886062270 |
|
NM_001316772.1(GARS1):c.-247C>A
|
|
|
NM_001316772.1(GARS1):c.-328T>G
|
|
|
NM_001316772.1(GARS1):c.-342G>C
|
|
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814 |
|
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)
|
rs141228634 |
|
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)
|
rs146174311 |
|
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
|
rs145734191 |
|
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
|
rs1373209779 |
|
NM_001349253.2(SCN11A):c.4057-1G>A
|
rs1575205608 |
|
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)
|
rs1553630322 |
|
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)
|
rs201107889 |
|
NM_001354663.2(OPA1):c.-260_-243del
|
rs863224140 |
|
NM_001362931.2(GDAP1):c.694+3856A>G
|
|
|
NM_001362931.2(GDAP1):c.694+3989C>T
|
|
|
NM_001362931.2(GDAP1):c.694+4016T>C
|
|
|
NM_001362931.2(GDAP1):c.694+4037T>C
|
rs886063119 |
|
NM_001365088.1(SLC12A6):c.1118+1G>A
|
rs762730861 |
|
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)
|
rs1595430425 |
|
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs)
|
rs1555378419 |
|
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
|
rs1595415679 |
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215 |
|
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)
|
rs606231158 |
|
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229 |
|
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)
|
rs121908429 |
|
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs)
|
rs606231157 |
|
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs)
|
rs606231279 |
|
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)
|
rs200328637 |
|
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
|
|
|
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
|
|
|
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
|
|
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
|
|
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
|
|
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
|
|
|
NM_001365951.3(KIF1B):c.2115+6205C>G
|
rs771399291 |
|
NM_001365951.3(KIF1B):c.2115+6385G>A
|
rs1569773823 |
|
NM_001365951.3(KIF1B):c.2115+6425T>C
|
rs778186347 |
|
NM_001365951.3(KIF1B):c.2115+6548G>A
|
rs781257253 |
|
NM_001365951.3(KIF1B):c.2115+7103A>G
|
rs756513840 |
|
NM_001365951.3(KIF1B):c.2115+7159A>G
|
rs1569777868 |
|
NM_001365951.3(KIF1B):c.2115+7161C>A
|
rs766794209 |
|
NM_001365951.3(KIF1B):c.2115+7308A>C
|
rs772349989 |
|
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
|
|
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)
|
rs145494902 |
|
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
|
|
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
|
|
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)
|
rs1569614217 |
|
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr)
|
rs766990936 |
|
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile)
|
rs1569897794 |
|
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
|
|
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
|
|
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
|
|
|
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)
|
rs754226097 |
|
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs)
|
rs377576958 |
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
|
|
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
|
|
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
|
|
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
|
|
|
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
|
|
|
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro)
|
rs1569935737 |
|
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202 |
|
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
|
|
|
NM_001365951.3(KIF1B):c.959-16T>A
|
|
|
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn)
|
rs1574077431 |
|
NM_001371279.1(REEP1):c.304-2A>G
|
rs387907242 |
|
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)
|
rs587781248 |
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367 |
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378 |
|
NM_001376.5(DYNC1H1):c.*194C>G
|
|
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862 |
|
NM_001376.5(DYNC1H1):c.*70T>C
|
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
|
|
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
|
rs1458996905 |
|
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val)
|
|
|
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
|
rs766521055 |
|
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
|
rs1407151844 |
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400 |
|
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
|
rs372041146 |
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322 |
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040 |
|
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461 |
|
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695 |
|
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe)
|
rs1567019533 |
|
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His)
|
rs1064796932 |
|
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
|
rs148203153 |
|
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)
|
rs768668529 |
|
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp)
|
rs1332342693 |
|
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
|
rs774439464 |
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947 |
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372 |
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373 |
|
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
|
|
|
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)
|
rs760957660 |
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882 |
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374 |
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
|
|
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
|
|
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643 |
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760 |
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653 |
|
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
|
|
|
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11055+6G>A
|
rs1595629239 |
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054 |
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375 |
|
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)
|
rs771355909 |
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser)
|
rs1595629587 |
|
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
|
|
|
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro)
|
rs1595629612 |
|
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717 |
|
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)
|
rs369351359 |
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
|
|
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro)
|
rs745812006 |
|
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)
|
rs1239478672 |
|
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
|
|
|
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg)
|
rs879254035 |
|
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)
|
rs867293260 |
|
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
|
|
|
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
|
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515 |
|
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
|
|
|
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
|
rs1006593304 |
|
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
|
rs1595630600 |
|
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys)
|
rs767837334 |
|
NM_001376.5(DYNC1H1):c.11866-4A>T
|
|
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
|
|
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn)
|
rs770525695 |
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299 |
|
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)
|
rs750305144 |
|
NM_001376.5(DYNC1H1):c.11941+2T>A
|
rs1595630836 |
|
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
|
|
|
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
|
rs370026529 |
|
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
|
rs1446298826 |
|
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
|
|
|
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
|
rs1451197374 |
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980 |
|
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
|
rs1595631704 |
|
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His)
|
rs1271427633 |
|
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
|
rs768853660 |
|
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
|
|
|
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)
|
rs114906811 |
|
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
|
|
|
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
|
rs573819401 |
|
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)
|
rs1060499574 |
|
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
|
|
|
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
|
|
|
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=)
|
rs757449756 |
|
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
|
|
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220 |
|
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)
|
rs754437318 |
|
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
|
rs202107738 |
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018 |
|
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
|
|
|
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
|
rs776972173 |
|
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
|
rs769593920 |
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795 |
|
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
|
rs1595633349 |
|
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
|
|
|
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly)
|
rs770105370 |
|
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly)
|
rs1298640455 |
|
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)
|
rs1555412242 |
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376 |
|
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met)
|
rs774296708 |
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445 |
|
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13006+4G>A
|
rs1595633618 |
|
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)
|
rs747829220 |
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132 |
|
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
|
|
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609 |
|
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr)
|
rs768797999 |
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075 |
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292 |
|
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr)
|
rs1567025279 |
|
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
|
rs1206639344 |
|
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala)
|
rs1555412552 |
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055 |
|
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile)
|
rs1555412618 |
|
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
|
rs770395590 |
|
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg)
|
rs763724110 |
|
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
|
|
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
rs749297332 |
|
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
|
|
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540 |
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
|
|
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
|
rs140033479 |
|
NM_001376.5(DYNC1H1):c.13373-3C>G
|
rs1567025991 |
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392 |
|
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)
|
rs17541692 |
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678 |
|
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn)
|
rs1243385324 |
|
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)
|
rs1567026040 |
|
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=)
|
rs1555412704 |
|
NM_001376.5(DYNC1H1):c.13515+3G>A
|
|
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713 |
|
NM_001376.5(DYNC1H1):c.13516-10C>A
|
rs1595637656 |
|
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile)
|
rs1595637702 |
|
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
|
|
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
|
|
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078 |
|
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
|
|
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
|
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
rs192742245 |
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942 |
|
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del)
|
rs1013209915 |
|
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578 |
|
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)
|
rs886050377 |
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377 |
|
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
|
|
|
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)
|
rs544608488 |
|
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
|
|
|
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
|
rs765362140 |
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834 |
|
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
|
|
|
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
|
rs753454594 |
|
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln)
|
rs1060502205 |
|
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val)
|
rs1566991081 |
|
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala)
|
|
|
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)
|
rs879254286 |
|
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
|
|
|
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)
|
rs781130520 |
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883 |
|
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala)
|
|
|
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn)
|
rs777919963 |
|
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)
|
rs200224597 |
|
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp)
|
rs776102509 |
|
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys)
|
rs879254275 |
|
NM_001376.5(DYNC1H1):c.1461+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.1461+5G>T
|
|
|
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met)
|
rs773725715 |
|
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
|
rs747710142 |
|
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)
|
rs1298953581 |
|
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu)
|
rs1060502209 |
|
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)
|
rs1057522046 |
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499 |
|
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
|
rs1595600778 |
|
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
|
|
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566 |
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153 |
|
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
|
|
|
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
|
|
|
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)
|
rs760971556 |
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803 |
|
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
|
rs1383117534 |
|
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His)
|
rs1244748017 |
|
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
|
rs775473086 |
|
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
|
rs758895614 |
|
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met)
|
rs563050462 |
|
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
|
|
|
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His)
|
rs759802064 |
|
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
|
rs1595601098 |
|
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
|
rs1002689170 |
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566 |
|
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile)
|
rs781320162 |
|
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)
|
rs1358924141 |
|
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
|
|
|
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
|
|
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184 |
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
|
|
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile)
|
rs766014166 |
|
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
|
rs371431746 |
|
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
|
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963 |
|
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln)
|
rs768932305 |
|
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
|
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
|
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
|
|
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
|
rs1595601645 |
|
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
|
rs749973847 |
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295 |
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189 |
|
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
|
|
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
|
|
NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)
|
|
|
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
|
rs1595602265 |
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475 |
|
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
|
rs140141126 |
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
|
|
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
|
rs1595595758 |
|
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile)
|
rs1332902634 |
|
NM_001376.5(DYNC1H1):c.3015+3A>G
|
rs1057522534 |
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
|
|
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
|
|
|
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819 |
|
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
|
|
|
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser)
|
rs1060502206 |
|
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)
|
rs775528195 |
|
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
|
|
|
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)
|
rs867890249 |
|
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961 |
|
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
|
rs775900761 |
|
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
|
|
|
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
|
|
|
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
|
|
|
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met)
|
rs587780331 |
|
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
|
|
|
NM_001376.5(DYNC1H1):c.345-3T>G
|
rs1060502203 |
|
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys)
|
rs774198261 |
|
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)
|
rs778273904 |
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422 |
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
|
|
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)
|
rs867503066 |
|
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)
|
rs749548033 |
|
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp)
|
|
|
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn)
|
rs760571415 |
|
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
|
|
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
|
|
|
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg)
|
rs1479995920 |
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NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
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|
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NM_001376.5(DYNC1H1):c.3961-3C>T
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NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
|
rs763711252 |
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NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu)
|
rs1131691955 |
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NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
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|
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
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NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn)
|
rs1555409283 |
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NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr)
|
rs1567006255 |
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NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
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rs776226690 |
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NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
|
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
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NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
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|
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)
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rs367614843 |
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NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr)
|
rs1567006359 |
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NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)
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rs761695197 |
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NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)
|
rs1327664377 |
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NM_001376.5(DYNC1H1):c.4627C>T (p.Arg1543Trp)
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NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
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NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu)
|
rs762246186 |
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NM_001376.5(DYNC1H1):c.4709+6G>T
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rs1555409403 |
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NM_001376.5(DYNC1H1):c.4759C>G (p.Leu1587Val)
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NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
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NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)
|
rs1060502204 |
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NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
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NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
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NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996 |
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NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
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NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
|
rs925942859 |
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NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
|
rs758191823 |
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NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys)
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rs1321265961 |
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NM_001376.5(DYNC1H1):c.5049+15G>A
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NM_001376.5(DYNC1H1):c.5049+5A>G
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NM_001376.5(DYNC1H1):c.5050-3C>T
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rs372462176 |
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NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
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rs781664182 |
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NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val)
|
rs1555409556 |
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NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys)
|
rs1555409562 |
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NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563 |
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NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
|
rs369232191 |
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NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
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rs138287354 |
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NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368 |
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NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
rs1595597551 |
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NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr)
|
rs1555409568 |
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NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595 |
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NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
|
rs1441272851 |
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NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
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NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)
|
rs780345145 |
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NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)
|
rs144147463 |
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NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
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rs139842853 |
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NM_001376.5(DYNC1H1):c.5317G>A (p.Gly1773Arg)
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NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr)
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rs200722698 |
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NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
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rs1346194464 |
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NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
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rs879253937 |
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NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
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NM_001376.5(DYNC1H1):c.5433_5433+27dup
|
rs1382359405 |
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NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs)
|
rs1555409622 |
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NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
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NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
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NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
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NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873 |
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NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
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NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
|
rs768520247 |
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NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
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NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
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NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016 |
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NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
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NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
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rs140841480 |
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NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val)
|
rs1566996430 |
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NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly)
|
rs1595613980 |
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NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
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NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
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rs202004938 |
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NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
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NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
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rs138702876 |
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NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
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NM_001376.5(DYNC1H1):c.6222-4C>T
|
rs1382280530 |
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NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)
|
rs1555407906 |
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NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497 |
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NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln)
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rs1060502207 |
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NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
|
rs1595614266 |
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NM_001376.5(DYNC1H1):c.6405+4_6405+44del
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NM_001376.5(DYNC1H1):c.6406-4G>A
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rs374602014 |
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NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)
|
rs765613848 |
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NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr)
|
rs1060502208 |
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NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)
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NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
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NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
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NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
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|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369 |
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NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile)
|
rs1595615102 |
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NM_001376.5(DYNC1H1):c.6743A>G (p.Glu2248Gly)
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NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn)
|
rs376274132 |
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NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
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|
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val)
|
rs1567010983 |
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NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
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NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
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NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
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NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)
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rs142335110 |
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NM_001376.5(DYNC1H1):c.6997C>T (p.Leu2333Phe)
|
rs1131691358 |
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861 |
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NM_001376.5(DYNC1H1):c.7014+3A>G
|
rs1426193095 |
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NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
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|
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NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile)
|
rs376456164 |
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NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
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NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
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|
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
|
rs377242217 |
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NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723 |
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377 |
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NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His)
|
rs1028991666 |
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NM_001376.5(DYNC1H1):c.7161G>A (p.Leu2387=)
|
|
|
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
|
rs1595616794 |
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NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)
|
rs751820545 |
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154 |
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NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
|
rs912429154 |
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NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094 |
|
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7242+5G>A
|
rs770870431 |
|
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530 |
|
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
|
rs1595617173 |
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NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe)
|
rs1161281176 |
|
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
|
rs1595590120 |
|
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His)
|
rs1441059709 |
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
|
|
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)
|
rs1018948570 |
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
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|
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
|
rs780160519 |
|
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
|
rs1292509595 |
|
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)
|
rs879253979 |
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405 |
|
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser)
|
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|
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
|
rs1567012503 |
|
NM_001376.5(DYNC1H1):c.7614+6C>T
|
rs1567012532 |
|
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
|
rs368463825 |
|
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
|
rs756288729 |
|
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
|
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|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
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|
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
|
rs1595617746 |
|
NM_001376.5(DYNC1H1):c.7849-7T>G
|
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|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535 |
|
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
|
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|
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
|
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|
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
|
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|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954 |
|
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg)
|
rs1555410313 |
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
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|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139 |
|
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met)
|
rs376679623 |
|
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)
|
|
|
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=)
|
rs138710201 |
|
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
rs773460120 |
|
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
|
|
|
NM_001376.5(DYNC1H1):c.8343+5G>A
|
rs369653555 |
|
NM_001376.5(DYNC1H1):c.8344-4A>G
|
rs200913985 |
|
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp)
|
rs762494017 |
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737 |
|
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
|
|
|
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
|
rs1595597922 |
|
NM_001376.5(DYNC1H1):c.8507+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
|
|
|
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
|
rs774677904 |
|
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
|
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|
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
|
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|
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met)
|
rs575806819 |
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370 |
|
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala)
|
rs1555410902 |
|
NM_001376.5(DYNC1H1):c.8886+4C>T
|
rs1349379812 |
|
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln)
|
|
|
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val)
|
rs1187943520 |
|
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
|
rs769817685 |
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
|
|
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr)
|
rs1555410940 |
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
|
|
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)
|
rs1566996726 |
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296 |
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738 |
|
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)
|
rs377668381 |
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995 |
|
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
|
rs752518392 |
|
NM_001376.5(DYNC1H1):c.9263+5G>A
|
rs200144865 |
|
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=)
|
|
|
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
|
rs1043956265 |
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762 |
|
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly)
|
rs1595623556 |
|
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)
|
rs905098104 |
|
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
|
rs747831868 |
|
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
|
rs1053560376 |
|
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His)
|
|
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
|
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720 |
|
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr)
|
rs1311056505 |
|
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
|
rs756550022 |
|
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys)
|
rs1567017804 |
|
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)
|
rs1567017825 |
|
NM_001376.5(DYNC1H1):c.9642+4C>T
|
|
|
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu)
|
rs1567017900 |
|
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro)
|
rs199966256 |
|
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln)
|
rs1567018077 |
|
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
|
|
|
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
|
rs903873576 |
|
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp)
|
rs756906168 |
|
NM_001376.5(DYNC1H1):c.9883+3A>G
|
|
|
NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)
|
|
|
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
|
|
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513 |
|
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446 |
|
NM_001540.5(HSPB1):c.*116C>T
|
|
|
NM_001540.5(HSPB1):c.-15G>A
|
rs756260929 |
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436 |
|
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
|
rs1554614432 |
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165 |
|
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
|
rs1393404971 |
|
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
|
|
|
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)
|
rs778311776 |
|
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
|
|
|
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
|
|
|
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
|
|
|
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
|
rs773864816 |
|
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
|
|
|
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
|
|
|
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
|
|
|
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
|
|
|
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
|
rs757158514 |
|
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)
|
rs1405359814 |
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653 |
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168 |
|
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)
|
rs1231796327 |
|
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
|
|
|
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
|
|
|
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
|
|
|
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn)
|
rs1563651975 |
|
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg)
|
rs770272088 |
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088 |
|
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
|
|
|
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
|
|
|
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu)
|
rs749378020 |
|
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
|
|
|
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln)
|
rs1060503022 |
|
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
|
rs777201941 |
|
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
|
|
|
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
|
|
|
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
|
rs761660005 |
|
NM_001540.5(HSPB1):c.29T>A (p.Leu10His)
|
rs772216758 |
|
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
|
|
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574 |
|
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
|
|
|
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
|
|
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670 |
|
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
rs780988351 |
|
NM_001540.5(HSPB1):c.365-13C>T
|
rs767168094 |
|
NM_001540.5(HSPB1):c.365-67C>T
|
rs1583965825 |
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768 |
|
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
|
|
|
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)
|
rs755233365 |
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219 |
|
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del)
|
rs1554614633 |
|
NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
|
|
|
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser)
|
rs1475184454 |
|
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln)
|
rs587781250 |
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005 |
|
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
|
rs1583966042 |
|
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
|
|
|
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
|
rs766728475 |
|
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)
|
rs28939680 |
|
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
|
rs28939680 |
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680 |
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022 |
|
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
|
rs1554614650 |
|
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
|
|
|
NM_001540.5(HSPB1):c.428+5G>C
|
|
|
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
|
rs748414486 |
|
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro)
|
rs771232749 |
|
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile)
|
rs28937568 |
|
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)
|
rs780878780 |
|
NM_001540.5(HSPB1):c.476_477del (p.Pro159fs)
|
rs1240900244 |
|
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
|
rs1032400275 |
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023 |
|
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
|
|
|
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
|
rs1422978230 |
|
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
|
rs1422978230 |
|
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
|
|
|
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
|
|
|
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)
|
rs777225392 |
|
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
|
rs772767500 |
|
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
|
|
|
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306 |
|
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
|
|
|
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
|
rs1276065076 |
|
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
|
|
|
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
|
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772 |
|
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
|
rs367857772 |
|
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
|
|
|
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
|
|
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394 |
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
rs367662394 |
|
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
|
|
|
NM_001550.3(IFRD1):c.514A>G (p.Ile172Val)
|
rs150651401 |
|
NM_001605.2(AARS1):c.*169C>G
|
rs554221793 |
|
NM_001605.2(AARS1):c.*324G>A
|
rs141837805 |
|
NM_001605.2(AARS1):c.-108T>C
|
rs779683414 |
|
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726 |
|
NM_001605.2(AARS1):c.1108A>G (p.Met370Val)
|
rs199976742 |
|
NM_001605.2(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800 |
|
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg)
|
rs369135192 |
|
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234 |
|
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn)
|
rs1567605658 |
|
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp)
|
rs377163632 |
|
NM_001605.2(AARS1):c.1493-7T>C
|
rs376087556 |
|
NM_001605.2(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255 |
|
NM_001605.2(AARS1):c.1596C>A (p.Thr532=)
|
rs142181559 |
|
NM_001605.2(AARS1):c.1611G>T (p.Glu537Asp)
|
rs371617479 |
|
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter)
|
rs146946034 |
|
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser)
|
rs371595630 |
|
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885 |
|
NM_001605.2(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218 |
|
NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg)
|
rs142233951 |
|
NM_001605.2(AARS1):c.2109G>C (p.Val703=)
|
rs777499923 |
|
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789 |
|
NM_001605.2(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895 |
|
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804 |
|
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278 |
|
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu)
|
rs150873930 |
|
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122 |
|
NM_001605.2(AARS1):c.2240A>G (p.Lys747Arg)
|
rs886052254 |
|
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala)
|
rs797044801 |
|
NM_001605.2(AARS1):c.2378G>C (p.Arg793Thr)
|
rs886052253 |
|
NM_001605.2(AARS1):c.2401-11A>G
|
rs377576408 |
|
NM_001605.2(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428 |
|
NM_001605.2(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652 |
|
NM_001605.2(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964 |
|
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330 |
|
NM_001605.2(AARS1):c.304G>C (p.Gly102Arg)
|
rs1597446183 |
|
NM_001605.2(AARS1):c.333+3A>C
|
rs747431164 |
|
NM_001605.2(AARS1):c.342A>C (p.Ala114=)
|
rs190680402 |
|
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala)
|
rs370622071 |
|
NM_001605.2(AARS1):c.480-8T>G
|
rs751472610 |
|
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425 |
|
NM_001605.2(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055 |
|
NM_001605.2(AARS1):c.618G>T (p.Gln206His)
|
rs139785247 |
|
NM_001605.2(AARS1):c.63C>T (p.Asn21=)
|
rs773045737 |
|
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu)
|
rs1374950172 |
|
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly)
|
rs769239545 |
|
NM_001605.2(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256 |
|
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys)
|
rs138490305 |
|
NM_001605.2(AARS1):c.962+15C>T
|
rs779150762 |
|
NM_001605.3(AARS1):c.*131G>A
|
|
|
NM_001605.3(AARS1):c.*32T>C
|
|
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422 |
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
|
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
|
|
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu)
|
rs1597440700 |
|
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr)
|
rs551899273 |
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
|
|
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr)
|
rs1597439359 |
|
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser)
|
rs1228135551 |
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
|
|
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro)
|
rs767533880 |
|
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
|
|
|
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
|
rs143370729 |
|
NM_001605.3(AARS1):c.259G>A
|
rs763757370 |
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
|
|
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu)
|
rs763378637 |
|
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
|
rs780609058 |
|
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys)
|
rs1597442205 |
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
|
|
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
|
|
|
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)
|
rs1571845049 |
|
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)
|
rs1571845049 |
|
NM_002047.3(GARS):c.-197G>C
|
rs886062269 |
|
NM_002047.3(GARS):c.-237A>C
|
rs540431164 |
|
NM_002047.4(GARS1):c.*145C>A
|
|
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802 |
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260 |
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273 |
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212 |
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836 |
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
|
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
|
|
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu)
|
rs1584017371 |
|
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala)
|
rs1584043561 |
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838 |
|
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
|
|
|
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
|
|
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144 |
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647 |
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
|
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925 |
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
|
|
NM_002047.4(GARS1):c.1809+10_1809+12del
|
rs747338292 |
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730 |
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272 |
|
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
|
rs773889809 |
|
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307 |
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346 |
|
NM_002047.4(GARS1):c.2044C>A (p.His682Asn)
|
rs1437642803 |
|
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
|
|
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274 |
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920 |
|
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671 |
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212 |
|
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr)
|
rs1584017035 |
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645 |
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272 |
|
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)
|
rs758037738 |
|
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
|
rs1554337168 |
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644 |
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
rs1554337369 |
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136 |
|
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
|
rs1301948344 |
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968 |
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520 |
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974 |
|
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
|
rs1554337979 |
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643 |
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649 |
|
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)
|
rs144322728 |
|
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)
|
rs1239341211 |
|
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)
|
rs1554106881 |
|
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
rs1594431740 |
|
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005 |
|
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
rs750580259 |
|
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
|
rs567322475 |
|
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231 |
|
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167 |
|
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
|
rs759014082 |
|
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr)
|
rs756791529 |
|
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn)
|
rs200007067 |
|
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)
|
rs770912338 |
|
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
|
rs374845226 |
|
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362 |
|
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217 |
|
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686 |
|
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489 |
|
NM_002180.2(IGHMBP2):c.1236-6G>A
|
rs201538340 |
|
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val)
|
rs1465465295 |
|
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
|
rs749343954 |
|
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541 |
|
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350 |
|
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg)
|
rs1555247218 |
|
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)
|
rs1594451196 |
|
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
|
rs1021399630 |
|
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
|
rs377460631 |
|
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354 |
|
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
|
rs1464006744 |
|
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678 |
|
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly)
|
rs144240271 |
|
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973 |
|
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
rs374363750 |
|
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759 |
|
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
|
rs755120725 |
|
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
|
rs755120725 |
|
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
|
rs1594451539 |
|
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907 |
|
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg)
|
rs1555247334 |
|
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
|
rs1170552394 |
|
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp)
|
rs764111837 |
|
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226 |
|
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys)
|
rs757425203 |
|
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu)
|
rs926718557 |
|
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)
|
rs373828321 |
|
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr)
|
rs759965718 |
|
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg)
|
rs1555247556 |
|
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703 |
|
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu)
|
rs879253887 |
|
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
|
rs772592429 |
|
NM_002180.2(IGHMBP2):c.1632+4C>T
|
rs775832239 |
|
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala)
|
rs1566445036 |
|
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151 |
|
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser)
|
rs201649839 |
|
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys)
|
rs201649839 |
|
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093 |
|
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588 |
|
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del)
|
rs775542203 |
|
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153 |
|
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
|
rs748775914 |
|
NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002 |
|
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212 |
|
NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg)
|
rs146450269 |
|
NM_002180.2(IGHMBP2):c.1756+4C>T
|
rs778913429 |
|
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val)
|
rs764900781 |
|
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)
|
rs143766075 |
|
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750 |
|
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431 |
|
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln)
|
rs141107419 |
|
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943 |
|
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943 |
|
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met)
|
rs573382473 |
|
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu)
|
rs776775995 |
|
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)
|
rs776775995 |
|
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
|
rs752495359 |
|
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys)
|
rs1448152495 |
|
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213 |
|
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu)
|
rs1264599893 |
|
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
|
rs1594455594 |
|
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met)
|
rs747465472 |
|
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn)
|
rs775138577 |
|
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)
|
rs755082503 |
|
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
|
rs1310268610 |
|
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
|
rs377743886 |
|
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588 |
|
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
|
rs371157210 |
|
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp)
|
rs1470672532 |
|
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu)
|
rs77807333 |
|
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)
|
rs372382180 |
|
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
|
rs1594456094 |
|
NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg)
|
rs879254320 |
|
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg)
|
rs1191974842 |
|
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)
|
rs773046519 |
|
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510 |
|
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg)
|
rs376644749 |
|
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val)
|
rs750717921 |
|
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)
|
rs1594456265 |
|
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838 |
|
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954 |
|
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
rs754559345 |
|
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765 |
|
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840 |
|
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490 |
|
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)
|
rs1438075631 |
|
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
|
rs1594415592 |
|
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806 |
|
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484 |
|
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
|
rs371546836 |
|
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=)
|
rs764637193 |
|
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln)
|
rs202143060 |
|
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
rs1300949116 |
|
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)
|
rs1594417834 |
|
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179 |
|
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu)
|
rs372629862 |
|
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)
|
rs772539742 |
|
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722 |
|
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile)
|
rs199614709 |
|
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=)
|
rs1566448372 |
|
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
rs772387164 |
|
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
|
rs199962477 |
|
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His)
|
rs368584364 |
|
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230 |
|
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
|
rs1594458556 |
|
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro)
|
rs1566448570 |
|
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
|
rs200897747 |
|
NM_002180.2(IGHMBP2):c.2784+1G>T
|
rs797044803 |
|
NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr)
|
rs757839224 |
|
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
|
rs373408947 |
|
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485 |
|
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
|
rs759627672 |
|
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650 |
|
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
|
rs764208218 |
|
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388 |
|
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
|
rs760004229 |
|
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp)
|
rs141873613 |
|
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg)
|
rs199574747 |
|
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys)
|
rs1471799706 |
|
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615 |
|
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)
|
rs1440519538 |
|
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
|
rs1392401882 |
|
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006 |
|
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
|
rs767244307 |
|
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
|
rs750026880 |
|
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)
|
rs1034569953 |
|
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg)
|
rs775782198 |
|
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
|
rs150123428 |
|
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
|
rs761440964 |
|
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
|
rs138448914 |
|
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785 |
|
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)
|
rs1566425176 |
|
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr)
|
rs548256623 |
|
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)
|
rs724159958 |
|
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala)
|
rs1566427330 |
|
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
|
rs771853806 |
|
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg)
|
rs1555243301 |
|
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)
|
rs1594422735 |
|
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999 |
|
NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val)
|
rs377678376 |
|
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys)
|
rs1033094612 |
|
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His)
|
rs761191746 |
|
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551 |
|
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)
|
rs777575504 |
|
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
|
rs751910797 |
|
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys)
|
rs201054207 |
|
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro)
|
rs773582904 |
|
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985 |
|
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp)
|
rs144681826 |
|
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)
|
rs892885630 |
|
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp)
|
rs751421003 |
|
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598 |
|
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)
|
rs768803582 |
|
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile)
|
rs761171176 |
|
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn)
|
rs139635469 |
|
NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu)
|
rs200079527 |
|
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)
|
rs747287368 |
|
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764 |
|
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)
|
rs1594431701 |
|
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=)
|
rs1161757831 |
|
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
|
|
|
NM_002180.3(IGHMBP2):c.1235+1076G>A
|
rs762272501 |
|
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
|
|
|
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
|
|
|
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
|
|
|
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
|
|
|
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
|
|
|
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
|
|
|
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
|
|
|
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
|
|
|
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs)
|
rs1594451999 |
|
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
|
|
|
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
|
|
|
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
|
|
|
NM_002180.3(IGHMBP2):c.1586_1587GT[3] (p.Pro531fs)
|
rs1594453023 |
|
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
|
|
|
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
|
|
|
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
|
|
|
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
|
|
|
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
|
|
|
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
|
|
|
NM_002180.3(IGHMBP2):c.1756+5G>A
|
|
|
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
|
|
|
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
|
|
|
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
|
|
|
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
|
|
|
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
|
|
|
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
|
|
|
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His)
|
rs1413846126 |
|
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
|
|
|
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
|
|
|
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
|
|
|
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
|
|
|
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
|
|
|
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
|
|
|
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
|
|
|
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
|
|
|
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
|
|
|
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
|
|
|
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
|
|
|
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
|
|
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207 |
|
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu)
|
rs200072932 |
|
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
|
|
|
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
|
|
|
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
|
|
|
NM_002180.3(IGHMBP2):c.2612-3C>T
|
|
|
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro)
|
rs1594458354 |
|
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
|
|
|
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
|
|
|
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
|
|
|
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
|
|
|
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
|
|
|
NM_002180.3(IGHMBP2):c.2773del (p.His925fs)
|
rs1594458566 |
|
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro)
|
rs1594458574 |
|
NM_002180.3(IGHMBP2):c.2785-3C>G
|
|
|
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg)
|
rs1594459783 |
|
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
|
|
|
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
|
|
|
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
|
|
|
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)
|
rs724159994 |
|
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
|
|
|
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
|
|
|
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
|
|
|
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
|
|
|
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
|
|
|
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
|
|
|
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
|
|
|
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
|
|
|
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
|
|
|
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
|
|
|
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val)
|
rs780802298 |
|
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
|
|
|
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
|
|
|
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
|
|
|
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
|
|
|
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
|
|
|
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met)
|
rs201112136 |
|
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
|
|
|
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
|
|
|
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
|
|
|
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
|
|
|
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
|
|
|
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
|
|
|
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
|
|
|
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
|
|
|
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
|
|
|
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)
|
rs746581714 |
|
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
|
|
|
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
|
|
|
NM_002506.2(NGF):c.560G>A (p.Ser187Asn)
|
rs1571069395 |
|
NM_002506.2(NGF):c.680C>A (p.Thr227Lys)
|
rs1326012011 |
|
NM_002506.2(NGF):c.681_682del (p.Ala228fs)
|
rs1571069258 |
|
NM_002529.3(NTRK1):c.1633-1G>T
|
rs1571699664 |
|
NM_002529.3(NTRK1):c.354_359+3del
|
rs1571685736 |
|
NM_002529.3(NTRK1):c.359+5G>T
|
rs1571685765 |
|
NM_002529.3(NTRK1):c.429-1G>C
|
rs748672380 |
|
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)
|
rs746439204 |
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543 |
|
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)
|
rs1556430522 |
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239 |
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869 |
|
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)
|
rs199705951 |
|
NM_002972.4(SBF1):c.2605G>A (p.Val869Met)
|
rs200365973 |
|
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile)
|
rs370463792 |
|
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)
|
rs202156491 |
|
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly)
|
rs200718883 |
|
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
|
rs370182117 |
|
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)
|
rs202149945 |
|
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
|
rs373534319 |
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224 |
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022 |
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171 |
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712 |
|
NM_003680.3(YARS1):c.*369G>A
|
rs879511403 |
|
NM_003680.3(YARS1):c.*399G>A
|
rs890588915 |
|
NM_003680.3(YARS1):c.*539A>G
|
rs550239801 |
|
NM_003680.3(YARS1):c.*599A>C
|
rs542816112 |
|
NM_003680.3(YARS1):c.*724T>C
|
rs950577466 |
|
NM_003680.3(YARS1):c.-110G>A
|
rs748353138 |
|
NM_003680.3(YARS1):c.-157G>A
|
|
|
NM_003680.3(YARS1):c.-167T>A
|
rs1057515514 |
|
NM_003680.3(YARS1):c.-260G>A
|
|
|
NM_003680.3(YARS1):c.-269C>T
|
rs772899682 |
|
NM_003680.3(YARS1):c.-333C>T
|
rs1057515442 |
|
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly)
|
rs763921769 |
|
NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg)
|
|
|
NM_003680.3(YARS1):c.1042+3A>C
|
rs772446297 |
|
NM_003680.3(YARS1):c.1048A>G (p.Met350Val)
|
rs1553122785 |
|
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr)
|
rs1490757097 |
|
NM_003680.3(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578 |
|
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085 |
|
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln)
|
rs762473756 |
|
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg)
|
rs764584188 |
|
NM_003680.3(YARS1):c.112del (p.Ile38fs)
|
|
|
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln)
|
rs1405248711 |
|
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
|
rs749411607 |
|
NM_003680.3(YARS1):c.1180G>A (p.Val394Met)
|
rs863224717 |
|
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp)
|
rs1179946635 |
|
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833 |
|
NM_003680.3(YARS1):c.1227C>A (p.Phe409Leu)
|
|
|
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu)
|
rs1569778143 |
|
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
|
|
|
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys)
|
rs141955005 |
|
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
|
|
|
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro)
|
rs147005844 |
|
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer)
|
rs777156625 |
|
NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly)
|
|
|
NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
|
|
|
NM_003680.3(YARS1):c.1476+2T>C
|
rs1553122620 |
|
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
|
|
|
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg)
|
rs768160751 |
|
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655 |
|
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
|
rs778099655 |
|
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter)
|
rs1553122276 |
|
NM_003680.3(YARS1):c.1531A>G (p.Met511Val)
|
rs1569696187 |
|
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val)
|
rs371220818 |
|
NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg)
|
|
|
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117 |
|
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
|
|
|
NM_003680.3(YARS1):c.166A>G (p.Met56Val)
|
|
|
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
|
rs774466323 |
|
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
|
|
|
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
|
rs367649729 |
|
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
|
rs776582429 |
|
NM_003680.3(YARS1):c.205-2A>G
|
rs538137948 |
|
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg)
|
rs771657997 |
|
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
|
|
|
NM_003680.3(YARS1):c.211A>G (p.Ile71Val)
|
rs145768628 |
|
NM_003680.3(YARS1):c.221C>T (p.Ala74Val)
|
rs1429267110 |
|
NM_003680.3(YARS1):c.232G>A (p.Ala78Thr)
|
|
|
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter)
|
rs776952611 |
|
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
|
|
|
NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
|
|
|
NM_003680.3(YARS1):c.298G>A (p.Val100Met)
|
rs766704849 |
|
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
|
|
|
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
|
|
|
NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
|
|
|
NM_003680.3(YARS1):c.380+4A>G
|
|
|
NM_003680.3(YARS1):c.391C>T (p.Leu131=)
|
rs759430430 |
|
NM_003680.3(YARS1):c.40A>T (p.Ile14Phe)
|
|
|
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr)
|
rs1553127237 |
|
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
|
|
|
NM_003680.3(YARS1):c.425A>G (p.Gln142Arg)
|
|
|
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
|
rs769290451 |
|
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
|
|
|
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
|
rs1279417718 |
|
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666 |
|
NM_003680.3(YARS1):c.511-14G>A
|
rs1057515513 |
|
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter)
|
rs1553124472 |
|
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
|
rs1191925938 |
|
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
|
rs766166915 |
|
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
|
rs750198437 |
|
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
|
|
|
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834 |
|
NM_003680.3(YARS1):c.619C>T (p.Arg207Trp)
|
|
|
NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
|
|
|
NM_003680.3(YARS1):c.685-11A>G
|
rs751943571 |
|
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser)
|
rs1553123310 |
|
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala)
|
rs1553123307 |
|
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys)
|
rs1009349245 |
|
NM_003680.3(YARS1):c.763G>A (p.Val255Met)
|
|
|
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn)
|
rs141482636 |
|
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
|
|
|
NM_003680.3(YARS1):c.819C>T (p.Ser273=)
|
|
|
NM_003680.3(YARS1):c.821-3T>C
|
rs757673905 |
|
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
|
|
|
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165 |
|
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
|
|
|
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn)
|
rs779432834 |
|
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
|
|
|
NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
|
|
|
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151 |
|
NM_003680.3:c.1373C>T
|
|
|
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His)
|
rs1553465143 |
|
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe)
|
rs765819985 |
|
NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344 |
|
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)
|
rs1057518895 |
|
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)
|
rs1057517852 |
|
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
|
|
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375 |
|
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
|
|
|
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)
|
rs886703882 |
|
NM_004637.5(RAB7A):c.*1029A>G
|
rs776759455 |
|
NM_004637.5(RAB7A):c.*1142G>A
|
rs747470481 |
|
NM_004637.5(RAB7A):c.*1161C>T
|
rs886057952 |
|
NM_004637.5(RAB7A):c.*1301A>G
|
rs182528613 |
|
NM_004637.5(RAB7A):c.*165A>T
|
rs886057942 |
|
NM_004637.5(RAB7A):c.*181G>A
|
rs3206306 |
|
NM_004637.5(RAB7A):c.*183A>G
|
rs774054837 |
|
NM_004637.5(RAB7A):c.*473G>C
|
rs886057945 |
|
NM_004637.5(RAB7A):c.*700C>T
|
rs886057946 |
|
NM_004637.5(RAB7A):c.*702T>G
|
rs886057947 |
|
NM_004637.5(RAB7A):c.*85A>G
|
rs549333234 |
|
NM_004637.5(RAB7A):c.*922A>G
|
rs886057949 |
|
NM_004637.5(RAB7A):c.*929A>T
|
rs886057950 |
|
NM_004637.5(RAB7A):c.*997T>G
|
rs3755593 |
|
NM_004637.5(RAB7A):c.-154G>A
|
rs886057939 |
|
NM_004637.5(RAB7A):c.-18A>G
|
rs886057941 |
|
NM_004637.5(RAB7A):c.-204G>T
|
rs886057938 |
|
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro)
|
rs775104487 |
|
NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser)
|
rs11549756 |
|
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078 |
|
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn)
|
rs121909081 |
|
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr)
|
rs121909080 |
|
NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile)
|
rs121909080 |
|
NM_004637.5(RAB7A):c.484G>A (p.Val162Met)
|
rs121909079 |
|
NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser)
|
rs752824265 |
|
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945 |
|
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn)
|
rs756968558 |
|
NM_004637.6(RAB7A):c.*1079C>T
|
|
|
NM_004637.6(RAB7A):c.*1219C>T
|
|
|
NM_004637.6(RAB7A):c.*1343C>T
|
|
|
NM_004637.6(RAB7A):c.*1344G>A
|
|
|
NM_004637.6(RAB7A):c.*274G>A
|
|
|
NM_004637.6(RAB7A):c.*317A>G
|
|
|
NM_004637.6(RAB7A):c.*402T>A
|
|
|
NM_004637.6(RAB7A):c.*819C>A
|
|
|
NM_004637.6(RAB7A):c.*831A>G
|
|
|
NM_004637.6(RAB7A):c.*908A>C
|
|
|
NM_004637.6(RAB7A):c.*956G>A
|
|
|
NM_004637.6(RAB7A):c.*974A>G
|
|
|
NM_004637.6(RAB7A):c.*989C>G
|
|
|
NM_004637.6(RAB7A):c.-146G>C
|
|
|
NM_004637.6(RAB7A):c.-61G>A
|
|
|
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
|
|
|
NM_004637.6(RAB7A):c.181-3C>T
|
|
|
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
|
|
|
NM_004637.6(RAB7A):c.331del (p.Ser111fs)
|
rs1576303712 |
|
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
|
|
|
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
|
|
|
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
|
|
|
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
|
|
|
NM_004637.6(RAB7A):c.54-15T>C
|
|
|
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)
|
|
|
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
|
|
|
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
|
rs1594986869 |
|
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys)
|
rs121909093 |
|
NM_004945.3(DNM2):c.1652_1659+1del
|
rs1568314339 |
|
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del)
|
rs1599620398 |
|
NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del)
|
rs1599620408 |
|
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu)
|
rs121909088 |
|
NM_004945.3(DNM2):c.1697T>A (p.Leu566His)
|
rs121909094 |
|
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del)
|
rs1324559612 |
|
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del)
|
rs1599643472 |
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
|
|
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
|
|
|
NM_004990.4(MARS1):c.1091+2dup
|
rs754216322 |
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171 |
|
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
|
|
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466 |
|
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys)
|
rs916967743 |
|
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)
|
rs769544594 |
|
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr)
|
rs1594821331 |
|
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
|
|
|
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
|
|
|
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
|
rs751129809 |
|
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
|
rs767132960 |
|
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
|
|
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
rs780028144 |
|
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
|
|
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723 |
|
NM_004990.4(MARS1):c.1368+3A>T
|
|
|
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)
|
rs1408685568 |
|
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
|
|
|
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
|
|
|
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
|
|
|
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
|
|
|
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
|
|
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261 |
|
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
|
|
|
NM_004990.4(MARS1):c.1754-1G>C
|
rs1594833474 |
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659 |
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718 |
|
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
|
|
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
rs748955220 |
|
NM_004990.4(MARS1):c.1967+3A>G
|
|
|
NM_004990.4(MARS1):c.1968-8C>T
|
rs1209991469 |
|
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
|
rs1594835469 |
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
|
|
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly)
|
rs1205620243 |
|
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile)
|
rs558631075 |
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787 |
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
|
|
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
|
rs770756933 |
|
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
|
rs1594836361 |
|
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp)
|
rs369313141 |
|
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val)
|
rs559255944 |
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721 |
|
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
|
rs758051760 |
|
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)
|
rs200404964 |
|
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
|
rs138343927 |
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
rs773914259 |
|
NM_004990.4(MARS1):c.2556+1G>A
|
|
|
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
|
|
|
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
|
|
|
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)
|
rs1172463219 |
|
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
|
rs1594838677 |
|
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)
|
rs779548081 |
|
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
|
rs1027516483 |
|
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
|
|
|
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
|
|
|
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
|
|
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
rs141397530 |
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223 |
|
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
|
|
|
NM_004990.4(MARS1):c.415-5C>G
|
|
|
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter)
|
rs753083306 |
|
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser)
|
rs1565637642 |
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588 |
|
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
|
|
|
NM_004990.4(MARS1):c.659del (p.Pro220fs)
|
|
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446 |
|
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
|
|
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392 |
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999 |
|
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu)
|
rs146146070 |
|
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)
|
rs139033078 |
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
rs1017657436 |
|
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe)
|
rs776026574 |
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943 |
|
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)
|
rs11540809 |
|
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
|
|
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
|
|
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
|
|
|
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
|
|
|
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)
|
|
|
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
|
|
|
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)
|
|
|
NM_005340.7(HINT1):c.137C>A (p.Pro46His)
|
|
|
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)
|
|
|
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
|
|
|
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
|
rs1580684630 |
|
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
|
|
|
NM_005340.7(HINT1):c.203A>T (p.Asp68Val)
|
rs371048016 |
|
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)
|
|
|
NM_005340.7(HINT1):c.217-3C>T
|
rs1351028496 |
|
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
|
rs778878755 |
|
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
|
rs1580682534 |
|
NM_005340.7(HINT1):c.243C>T (p.Gly81=)
|
rs1426690264 |
|
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)
|
|
|
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)
|
rs755979803 |
|
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln)
|
rs373197800 |
|
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
|
|
|
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
|
rs1028404937 |
|
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
|
rs1561535921 |
|
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)
|
|
|
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
|
rs1580682427 |
|
NM_005340.7(HINT1):c.365A>T (p.His122Leu)
|
rs780156681 |
|
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
|
rs1580682390 |
|
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)
|
|
|
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)
|
|
|
NM_005340.7(HINT1):c.81A>G (p.Ile27Met)
|
rs1561538396 |
|
NM_005391.4(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214 |
|
NM_005391.4(PDK3):c.597del (p.Asp199fs)
|
rs1569225940 |
|
NM_005391.5(PDK3):c.1077+4C>T
|
|
|
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
|
|
|
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
|
|
|
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
|
|
|
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
|
|
|
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
|
|
|
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
|
|
|
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
|
|
|
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
|
|
|
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
|
|
|
NM_005548.2(KARS1):c.440_441dup (p.Arg148fs)
|
rs1597170012 |
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470 |
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356 |
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354 |
|
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser)
|
rs371681149 |
|
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)
|
rs1553704923 |
|
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)
|
rs1576389587 |
|
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
|
rs1576389617 |
|
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)
|
rs1375662436 |
|
NM_006070.6(TFG):c.1087T>G (p.Phe363Val)
|
|
|
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu)
|
rs1288104441 |
|
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala)
|
rs1234073129 |
|
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)
|
|
|
NM_006070.6(TFG):c.1145C>T (p.Ala382Val)
|
rs138185005 |
|
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)
|
|
|
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
|
|
|
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)
|
rs766049461 |
|
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
|
rs1576390105 |
|
NM_006070.6(TFG):c.1172G>T (p.Gly391Val)
|
|
|
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
|
|
|
NM_006070.6(TFG):c.196A>G (p.Ile66Val)
|
|
|
NM_006070.6(TFG):c.237G>T (p.Gln79His)
|
rs1173009495 |
|
NM_006070.6(TFG):c.256C>G (p.Leu86Val)
|
|
|
NM_006070.6(TFG):c.268G>A (p.Val90Ile)
|
|
|
NM_006070.6(TFG):c.286C>T (p.Pro96Ser)
|
|
|
NM_006070.6(TFG):c.290T>A (p.Leu97His)
|
rs1576366321 |
|
NM_006070.6(TFG):c.309A>G (p.Lys103=)
|
rs369508900 |
|
NM_006070.6(TFG):c.310T>C (p.Tyr104His)
|
rs775608477 |
|
NM_006070.6(TFG):c.391C>T (p.Pro131Ser)
|
rs770053266 |
|
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)
|
|
|
NM_006070.6(TFG):c.409G>C (p.Glu137Gln)
|
|
|
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
|
rs775354552 |
|
NM_006070.6(TFG):c.464A>G (p.Lys155Arg)
|
|
|
NM_006070.6(TFG):c.467A>G (p.Gln156Arg)
|
|
|
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
|
rs766899074 |
|
NM_006070.6(TFG):c.483G>A (p.Met161Ile)
|
rs750964585 |
|
NM_006070.6(TFG):c.484G>A (p.Ala162Thr)
|
|
|
NM_006070.6(TFG):c.544A>C (p.Met182Leu)
|
|
|
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
|
rs199724547 |
|
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
|
|
|
NM_006070.6(TFG):c.608G>A (p.Arg203His)
|
|
|
NM_006070.6(TFG):c.664G>A (p.Val222Ile)
|
|
|
NM_006070.6(TFG):c.68G>A (p.Arg23Gln)
|
rs774808090 |
|
NM_006070.6(TFG):c.716T>C (p.Ile239Thr)
|
rs146004809 |
|
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)
|
rs1559723912 |
|
NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
|
rs1576379554 |
|
NM_006070.6(TFG):c.754G>A (p.Gly252Ser)
|
rs561904697 |
|
NM_006070.6(TFG):c.792G>T (p.Gln264His)
|
rs1576379647 |
|
NM_006070.6(TFG):c.826T>C (p.Tyr276His)
|
rs1559726842 |
|
NM_006070.6(TFG):c.852A>C (p.Gln284His)
|
rs1559726965 |
|
NM_006070.6(TFG):c.870A>G (p.Gly290=)
|
|
|
NM_006070.6(TFG):c.882A>C (p.Gln294His)
|
rs751393611 |
|
NM_006070.6(TFG):c.898C>A (p.Pro300Thr)
|
|
|
NM_006070.6(TFG):c.898C>T (p.Pro300Ser)
|
rs1210008384 |
|
NM_006070.6(TFG):c.943C>T (p.Pro315Ser)
|
rs1553704852 |
|
NM_006070.6(TFG):c.944C>T (p.Pro315Leu)
|
rs753375115 |
|
NM_006070.6(TFG):c.976G>T (p.Ala326Ser)
|
|
|
NM_006070.6(TFG):c.97T>C (p.Tyr33His)
|
|
|
NM_006070.6(TFG):c.980A>G (p.Gln327Arg)
|
rs1431898500 |
|
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)
|
rs763523148 |
|
NM_006096.3(NDRG1):c.*1195G>T
|
rs561506934 |
|
NM_006096.3(NDRG1):c.*1296C>T
|
rs886062711 |
|
NM_006096.3(NDRG1):c.*1340G>A
|
rs12668 |
|
NM_006096.3(NDRG1):c.*1706G>A
|
rs781277187 |
|
NM_006096.3(NDRG1):c.*184G>A
|
rs778104868 |
|
NM_006096.3(NDRG1):c.*201A>T
|
rs886062715 |
|
NM_006096.3(NDRG1):c.*2C>T
|
rs200367524 |
|
NM_006096.3(NDRG1):c.*306C>T
|
rs886062714 |
|
NM_006096.3(NDRG1):c.*402C>T
|
rs551081194 |
|
NM_006096.3(NDRG1):c.*618T>G
|
rs886062713 |
|
NM_006096.3(NDRG1):c.*677C>T
|
rs886062712 |
|
NM_006096.3(NDRG1):c.-123T>G
|
rs886062718 |
|
NM_006096.3(NDRG1):c.-128C>T
|
rs886062719 |
|
NM_006096.3(NDRG1):c.-157C>T
|
rs545130040 |
|
NM_006096.3(NDRG1):c.-173G>A
|
rs886062720 |
|
NM_006096.3(NDRG1):c.-19+14C>G
|
rs886062716 |
|
NM_006096.3(NDRG1):c.-64G>A
|
rs886062717 |
|
NM_006096.3(NDRG1):c.-8G>A
|
rs200465804 |
|
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His)
|
rs1392179290 |
|
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168 |
|
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216 |
|
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1])
|
rs1554747479 |
|
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln)
|
rs775650624 |
|
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp)
|
rs1209851405 |
|
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411 |
|
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])
|
rs751274009 |
|
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr)
|
rs745832151 |
|
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058 |
|
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989 |
|
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu)
|
rs767058269 |
|
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970 |
|
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly)
|
rs367925853 |
|
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val)
|
rs367925853 |
|
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu)
|
rs1554747447 |
|
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546 |
|
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr)
|
rs1276408714 |
|
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205 |
|
NM_006096.3(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318 |
|
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg)
|
rs140634799 |
|
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp)
|
rs769720211 |
|
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
|
rs151322132 |
|
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667 |
|
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr)
|
rs373590447 |
|
NM_006096.3(NDRG1):c.212C>A |