|
DNM2, 9-BP DEL, NT1652
|
|
|
FGD4, 893T-G
|
|
|
GDAP1, IVS4DS, G-A, +1
|
|
|
GJB1, -526G-C
|
|
|
GJB1, -528T-G
|
|
|
GJB1, 1-BP DEL
|
|
|
GJB1, 21-BP DUP
|
|
|
GJB1, 3-BP DEL, 304GAG
|
|
|
GJB1, 367G-T
|
|
|
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
|
|
|
GRCh37/hg19 17p12(chr17:14063251-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14101029-15449627)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15422557)
|
|
|
GRCh37/hg19 17p12(chr17:14104012-15551814)
|
|
|
GRCh37/hg19 17p12(chr17:14105874-15611546)
|
|
|
GRCh37/hg19 17p12(chr17:14110451-15449097)
|
|
|
GRCh37/hg19 17p12(chr17:14128550-15422557)
|
|
|
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
|
|
|
GRCh37/hg19 2q13(chr2:110824957-110983703)
|
|
|
INF2, 9-BP DEL, NT490
|
|
|
MFN2, EX7-8DEL
|
|
|
MPZ, ASP195TYR
|
|
|
MPZ, THR216GLU-ARG
|
|
|
MTMR2, 10-BP DEL/2-BP INS
|
|
|
MTMR2, IVS13, G-A, +1
|
|
|
NC_000001.10:g.(?_33241563)_(46663513_?)dup
|
|
|
NC_000001.10:g.(?_33276192)_(33276658_?)del
|
|
|
NC_000001.9:g.157610062_160185096del2575035
|
|
|
NC_000003.11:g.(?_128514201)_(128631967_?)dup
|
|
|
NC_000003.11:g.(?_179118981)_(179144008_?)dup
|
|
|
NC_000004.11:g.(?_154125663)_(154197302_?)del
|
|
|
NC_000005.9:g.(?_110077728)_(110083984_?)dup
|
|
|
NC_000005.9:g.(?_110079421)_(110079498_?)del
|
|
|
NC_000005.9:g.(?_130494966)_(130501051_?)del
|
|
|
NC_000005.9:g.(?_130494966)_(130501051_?)dup
|
|
|
NC_000005.9:g.(?_130495120)_(130500918_?)del
|
|
|
NC_000005.9:g.(?_148427405)_(148427572_?)del
|
|
|
NC_000005.9:g.(?_148442534)_(148442737_?)del
|
|
|
NC_000006.11:g.(?_110012619)_(110012724_?)del
|
|
|
NC_000006.11:g.(?_110062627)_(110064995_?)del
|
|
|
NC_000007.13:g.(?_75931813)_(75933510_?)dup
|
|
|
NC_000007.13:g.(?_75933099)_(75933510_?)del
|
|
|
NC_000007.13:g.(?_75933119)_(75933490_?)del
|
|
|
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_000008.9:g.(75248716_75262617)_(75559358_75586021)del
|
|
|
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
|
|
|
NC_000009.11:g.(?_130263279)_(130263432_?)del
|
|
|
NC_000009.11:g.(?_130265053)_(130265780_?)del
|
|
|
NC_000011.9:g.(?_10049989)_(10215544_?)del
|
|
|
NC_000011.9:g.(?_10215449)_(10215534_?)del
|
|
|
NC_000011.9:g.(?_68675593)_(68676119_?)del
|
|
|
NC_000011.9:g.(?_9801955)_(10064538_?)del
|
|
|
NC_000012.11:g.(?_32729286)_(32772810_?)del
|
|
|
NC_000012.11:g.(?_32751411)_(32751540_?)del
|
|
|
NC_000012.11:g.(?_32786463)_(32832419_?)dup
|
|
|
NC_000014.8:g.(?_102391478)_(102431284_?)del
|
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
|
NC_000014.8:g.(?_105167693)_(105170300_?)del
|
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
|
NC_000014.9:g.101979787T>G
|
|
|
NC_000016.9:g.(?_11643473)_(11650606_?)dup
|
|
|
NC_000019.9:g.(?_10828899)_(10870507_?)dup
|
|
|
NC_000019.9:g.(?_10828899)_(10897402_?)dup
|
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
|
NC_000019.9:g.(?_40909593)_(40909789_?)del
|
|
|
NC_000023.10:g.(?_24483553)_(24483698_?)del
|
|
|
NC_000023.10:g.(?_24483553)_(24557301_?)dup
|
|
|
NC_000023.10:g.(?_24512839)_(24557301_?)del
|
|
|
NC_012920.1:m.9185T>C
|
rs199476138 |
|
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
|
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.-103C>T
|
rs863224971 |
|
NM_000166.6(GJB1):c.-16-2A>G
|
rs751230398 |
|
NM_000166.6(GJB1):c.-16-3C>G
|
|
|
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061 |
|
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
|
|
|
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
|
rs1060500998 |
|
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
|
|
|
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
|
|
|
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
|
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946 |
|
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
|
|
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012 |
|
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
|
|
|
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
|
|
|
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
|
|
|
NM_000166.6(GJB1):c.115del (p.Ala39fs)
|
|
|
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
|
|
|
NM_000166.6(GJB1):c.116C>T (p.Ala39Val)
|
rs786204095 |
|
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
|
|
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
|
|
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
|
|
|
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
|
|
|
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
|
|
|
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
|
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816 |
|
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
|
|
|
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
|
|
|
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
|
|
|
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
|
|
|
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
|
rs879253935 |
|
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
|
|
|
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
|
|
|
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
|
|
|
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
|
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817 |
|
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
|
|
|
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445 |
|
NM_000166.6(GJB1):c.155del (p.Ile52fs)
|
|
|
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
|
|
|
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
|
|
|
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
|
|
|
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)
|
rs863224613 |
|
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
|
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824 |
|
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
|
|
|
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
|
|
|
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)
|
rs483352926 |
|
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
|
|
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077 |
|
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
|
|
|
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082 |
|
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
|
|
|
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
|
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818 |
|
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
|
|
|
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
|
|
|
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
|
|
|
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
|
|
|
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
|
|
|
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819 |
|
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
|
|
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
|
|
|
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
|
|
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
|
|
|
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
|
|
|
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697 |
|
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
|
|
|
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
|
|
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
|
|
|
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
|
|
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
|
|
|
NM_000166.6(GJB1):c.217del (p.His73fs)
|
|
|
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
|
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819 |
|
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972 |
|
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
|
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820 |
|
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
|
|
|
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
|
|
|
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
|
|
|
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096 |
|
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
|
|
|
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
|
|
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157 |
|
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
|
|
|
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
|
|
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097 |
|
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
|
|
|
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
|
|
|
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
|
|
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
|
|
|
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
|
|
|
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
|
|
|
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
|
|
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
|
|
|
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
|
|
|
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823 |
|
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
|
|
|
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
|
|
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
|
|
|
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
|
|
|
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
|
|
|
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)
|
rs587777877 |
|
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
|
|
|
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
|
|
|
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122 |
|
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
|
|
|
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
|
|
|
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
|
|
|
NM_000166.6(GJB1):c.271G>C (p.Val91Leu)
|
rs756928158 |
|
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
|
|
|
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
|
|
|
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
|
|
|
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
|
|
|
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
|
|
|
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
|
|
|
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
|
|
|
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
|
|
|
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
|
|
|
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
|
|
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
|
|
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896 |
|
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
|
|
|
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821 |
|
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
|
|
|
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
|
|
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
|
|
|
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
|
|
|
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
|
|
|
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
|
|
|
NM_000166.6(GJB1):c.313del (p.Met105fs)
|
|
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973 |
|
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
|
|
|
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
|
|
|
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)
|
rs1555936999 |
|
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
|
|
|
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
|
|
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
|
|
|
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
|
|
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119 |
|
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
|
|
|
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995 |
|
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
|
|
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
|
|
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)
|
rs104894820 |
|
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
|
|
|
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
|
|
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
|
|
|
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
|
|
|
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
|
|
|
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
|
|
|
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)
|
rs104894813 |
|
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
|
|
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
|
|
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
|
|
|
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
|
|
|
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
|
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826 |
|
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
|
|
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
|
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812 |
|
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
|
|
|
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
|
|
|
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180 |
|
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810 |
|
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
|
|
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123 |
|
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
|
|
|
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
|
|
|
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
|
|
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
|
|
|
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
|
|
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
|
|
|
NM_000166.6(GJB1):c.439del (p.Ala147fs)
|
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815 |
|
NM_000166.6(GJB1):c.43del (p.Arg15fs)
|
|
|
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
|
|
|
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
|
|
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
|
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974 |
|
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
|
|
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
|
|
|
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
|
|
|
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
|
|
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
|
|
|
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
|
|
|
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
|
|
|
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
|
|
|
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
|
|
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
|
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818 |
|
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
|
|
|
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
|
|
|
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
|
|
|
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
|
|
|
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
|
|
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)
|
rs1555937194 |
|
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
|
|
|
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197 |
|
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
|
|
|
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
|
|
|
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
|
|
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
|
|
|
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
|
|
|
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
|
|
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
|
|
|
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
|
|
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362 |
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912 |
|
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
|
|
|
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
|
|
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
|
|
|
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
|
|
|
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
|
|
|
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
|
|
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
|
|
|
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
|
|
|
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
|
|
|
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009 |
|
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
|
|
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811 |
|
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
|
|
|
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)
|
rs1555937218 |
|
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
|
|
|
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
|
|
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
|
|
|
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
|
|
|
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
|
|
|
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
|
|
|
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)
|
rs1555937224 |
|
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
|
|
|
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
|
|
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
|
|
|
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
|
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822 |
|
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
|
|
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
|
|
|
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
|
|
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909 |
|
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
|
|
|
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
|
|
|
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
|
|
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
|
|
|
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
|
|
|
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
|
|
|
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
|
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
|
|
|
NM_000166.6(GJB1):c.574G>T (p.Val192Phe)
|
rs771579861 |
|
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
|
|
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
|
|
|
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
|
|
|
NM_000166.6(GJB1):c.580A>G (p.Met194Val)
|
rs587777878 |
|
NM_000166.6(GJB1):c.590C>T (p.Ala197Val)
|
rs1569215418 |
|
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
|
|
|
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
|
|
|
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
|
|
|
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
|
|
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
|
|
|
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
|
|
|
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
|
|
|
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
|
|
|
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
|
|
|
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
|
|
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
|
|
|
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
|
|
|
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
|
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822 |
|
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
|
|
|
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
|
|
|
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
|
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270 |
|
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
|
|
|
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
|
|
|
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
|
|
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
|
|
|
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
|
|
|
NM_000166.6(GJB1):c.62del (p.Gly21fs)
|
|
|
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
|
|
|
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443 |
|
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
|
|
|
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
|
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984 |
|
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
|
|
|
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
|
|
|
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099 |
|
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
|
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020 |
|
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
|
|
|
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
|
|
|
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
|
|
|
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814 |
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814 |
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002 |
|
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
|
|
|
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412 |
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
|
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246 |
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
|
|
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
|
|
|
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
|
|
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825 |
|
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
|
|
|
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)
|
rs200774406 |
|
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
|
|
|
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
|
|
|
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
|
|
|
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
|
|
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
|
|
|
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
|
|
|
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
|
|
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
|
|
|
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
|
|
|
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
|
|
|
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)
|
rs587777876 |
|
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876 |
|
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
|
|
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
|
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879 |
|
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
|
|
|
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
|
|
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
|
|
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
|
|
|
NM_000166.6(GJB1):c.800del (p.Pro267fs)
|
|
|
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
|
|
|
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
|
|
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
|
|
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
|
|
|
NM_000166.6(GJB1):c.84del (p.Phe29fs)
|
|
|
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
|
|
|
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)
|
rs104894817 |
|
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
|
|
|
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)
|
|
|
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
|
|
|
NM_000183.3(HADHB):c.210-1G>C
|
rs200777054 |
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305 |
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122 |
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260 |
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033 |
|
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.170C>G (p.Ala57Gly)
|
rs181735466 |
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595 |
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970 |
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014 |
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591 |
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053 |
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
|
|
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)
|
rs1230894568 |
|
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)
|
rs181021573 |
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590 |
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245 |
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553 |
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
|
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
|
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
|
|
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3])
|
rs1024697806 |
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262 |
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887 |
|
NM_000304.4(PMP22):c.*105_*109CAAAC[2]
|
rs112829799 |
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415 |
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383 |
|
NM_000304.4(PMP22):c.*173C>T
|
rs117277951 |
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097 |
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193 |
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307 |
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670 |
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370 |
|
NM_000304.4(PMP22):c.*525_*526CT[1]
|
rs71699667 |
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176 |
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538 |
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422 |
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027 |
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440 |
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610 |
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424 |
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159 |
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663 |
|
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
|
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846 |
|
NM_000304.4(PMP22):c.11del (p.Leu4fs)
|
|
|
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
|
|
|
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
|
|
|
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180 |
|
NM_000304.4(PMP22):c.174_178+7del
|
|
|
NM_000304.4(PMP22):c.178+1G>C
|
|
|
NM_000304.4(PMP22):c.179-1G>C
|
|
|
NM_000304.4(PMP22):c.179-2A>G
|
|
|
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
|
|
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682 |
|
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
|
|
|
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)
|
rs104894623 |
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623 |
|
NM_000304.4(PMP22):c.19_20del (p.Ser7fs)
|
rs587776691 |
|
NM_000304.4(PMP22):c.206T>G (p.Met69Arg)
|
|
|
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
|
|
|
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
|
|
|
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
|
|
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
|
|
|
NM_000304.4(PMP22):c.227del (p.Ser76fs)
|
|
|
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276 |
|
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027 |
|
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
|
|
|
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618 |
|
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
|
|
|
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
|
|
|
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
|
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
|
|
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
|
|
|
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763 |
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
|
|
NM_000304.4(PMP22):c.297del (p.Gly100fs)
|
|
|
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
|
|
|
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
|
|
|
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)
|
rs1567704621 |
|
NM_000304.4(PMP22):c.312del (p.Ala106fs)
|
|
|
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
|
|
|
NM_000304.4(PMP22):c.318del (p.Gly107fs)
|
|
|
NM_000304.4(PMP22):c.319+1G>A
|
|
|
NM_000304.4(PMP22):c.320-1G>C
|
|
|
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
|
|
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
|
|
|
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028 |
|
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
|
|
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
|
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111 |
|
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
|
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985 |
|
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
|
|
|
NM_000304.4(PMP22):c.367del (p.Glu123fs)
|
|
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622 |
|
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
|
|
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
|
|
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
|
|
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
|
|
|
NM_000304.4(PMP22):c.433dup (p.Leu145fs)
|
|
|
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029 |
|
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
|
|
|
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
|
|
|
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.449G>T (p.Gly150Val)
|
rs879253954 |
|
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
|
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682 |
|
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
|
|
|
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)
|
rs1022583382 |
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617 |
|
NM_000304.4(PMP22):c.53T>G (p.Leu18Arg)
|
|
|
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
|
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625 |
|
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg)
|
rs906563423 |
|
NM_000304.4(PMP22):c.75_78+2del
|
|
|
NM_000304.4(PMP22):c.76del (p.Ser26fs)
|
|
|
NM_000304.4(PMP22):c.78+1G>T
|
|
|
NM_000304.4(PMP22):c.78+5G>A
|
|
|
NM_000304.4(PMP22):c.79-2A>G
|
|
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989 |
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626 |
|
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
|
|
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)
|
|
|
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)
|
|
|
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)
|
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137 |
|
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138 |
|
NM_000399.5(EGR2):c.1147G>C (p.Asp383His)
|
|
|
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)
|
rs104894160 |
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139 |
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159 |
|
NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)
|
rs749558026 |
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272 |
|
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
|
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158 |
|
NM_000530.6(MPZ):c.[241C>T;337G>T]
|
|
|
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
|
|
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472 |
|
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057 |
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471 |
|
NM_000530.8(MPZ):c.*195G>T
|
rs150182811 |
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563 |
|
NM_000530.8(MPZ):c.*568C>G
|
rs60731755 |
|
NM_000530.8(MPZ):c.*624C>T
|
rs60821801 |
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474 |
|
NM_000530.8(MPZ):c.*743C>T
|
rs140992541 |
|
NM_000530.8(MPZ):c.*761A>G
|
rs16832786 |
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473 |
|
NM_000530.8(MPZ):c.*901_*902GA[7]
|
rs149030537 |
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608 |
|
NM_000530.8(MPZ):c.-10_-6dup
|
|
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
|
|
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596 |
|
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)
|
rs121913596 |
|
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.116A>C (p.His39Pro)
|
rs371856018 |
|
NM_000530.8(MPZ):c.123_125del (p.Val42del)
|
|
|
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
|
|
|
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366 |
|
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
|
|
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
|
|
|
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)
|
|
|
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
|
|
|
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
|
|
|
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
|
|
|
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
|
|
|
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
|
|
|
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
|
|
|
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)
|
rs1553259790 |
|
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
|
|
|
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
|
|
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133 |
|
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
|
|
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)
|
rs1341175303 |
|
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
|
|
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)
|
rs281865122 |
|
NM_000530.8(MPZ):c.178G>C (p.Asp60His)
|
rs121913604 |
|
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.186C>G (p.Ile62Met)
|
rs121913605 |
|
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
|
rs121913585 |
|
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)
|
rs121913585 |
|
NM_000530.8(MPZ):c.188_190del (p.Ser63del)
|
rs879254109 |
|
NM_000530.8(MPZ):c.190_192del (p.Phe64del)
|
|
|
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760 |
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
|
|
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
|
|
|
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
|
|
|
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
|
|
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
|
|
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
|
|
|
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
|
|
|
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
|
|
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
|
|
|
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
|
|
|
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
|
|
|
NM_000530.8(MPZ):c.223del (p.Asp75fs)
|
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597 |
|
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
|
|
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601 |
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601 |
|
NM_000530.8(MPZ):c.235-1G>C
|
|
|
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)
|
|
|
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
|
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124 |
|
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
|
|
|
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707 |
|
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)
|
rs1553259703 |
|
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
|
|
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244 |
|
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)
|
rs121913584 |
|
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)
|
|
|
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583 |
|
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)
|
rs121913606 |
|
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
|
|
|
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
|
|
|
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys)
|
rs121913590 |
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589 |
|
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)
|
rs121913589 |
|
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)
|
|
|
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)
|
rs1553259683 |
|
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
|
|
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125 |
|
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
|
|
|
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600 |
|
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)
|
rs121913609 |
|
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
|
|
|
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
|
rs1060503420 |
|
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
|
|
|
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
|
|
|
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
|
rs1553259663 |
|
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
|
|
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)
|
|
|
NM_000530.8(MPZ):c.346A>C (p.Asn116His)
|
rs267607242 |
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130 |
|
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
|
|
|
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038 |
|
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
|
|
|
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608 |
|
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
|
|
|
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656 |
|
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
|
|
|
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
|
|
|
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
|
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
|
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
|
|
|
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
|
|
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
|
rs267607243 |
|
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
|
|
|
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
|
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127 |
|
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
|
|
|
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
|
|
|
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599 |
|
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
|
|
|
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
|
|
|
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
|
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648 |
|
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
|
|
|
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
|
|
|
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647 |
|
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
|
|
|
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
|
|
|
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)
|
rs879253858 |
|
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)
|
rs121913587 |
|
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)
|
|
|
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
|
|
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588 |
|
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)
|
rs863225025 |
|
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
|
|
|
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
|
|
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994 |
|
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
|
|
|
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
|
|
|
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)
|
|
|
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
|
|
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650 |
|
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
|
|
|
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109 |
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603 |
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643 |
|
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
|
|
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
|
|
|
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
|
|
|
NM_000530.8(MPZ):c.449-1G>A
|
|
|
NM_000530.8(MPZ):c.449-1G>C
|
|
|
NM_000530.8(MPZ):c.449-1G>T
|
|
|
NM_000530.8(MPZ):c.449-9C>T
|
|
|
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
|
|
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
|
|
|
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
|
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
|
|
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.504G>A (p.Val168=)
|
rs145592910 |
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475 |
|
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)
|
|
|
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)
|
|
|
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
|
|
|
NM_000530.8(MPZ):c.553del (p.Arg185fs)
|
|
|
NM_000530.8(MPZ):c.554del (p.Arg185fs)
|
|
|
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568 |
|
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
|
|
|
NM_000530.8(MPZ):c.560del (p.Gln187fs)
|
|
|
NM_000530.8(MPZ):c.570del (p.Gln191fs)
|
|
|
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
|
|
|
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
|
|
|
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054 |
|
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129 |
|
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
|
|
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790 |
|
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
|
|
|
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
|
|
|
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
|
|
|
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026 |
|
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132 |
|
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
|
|
|
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247 |
|
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
|
|
|
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
|
|
|
NM_000530.8(MPZ):c.68-5_71del
|
|
|
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
|
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129 |
|
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del)
|
rs755446743 |
|
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
|
|
|
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
|
|
|
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
|
|
|
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)
|
|
|
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306 |
|
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
|
|
|
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
|
|
|
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)
|
rs1553190285 |
|
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)
|
rs1553192086 |
|
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)
|
rs1553192091 |
|
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
|
rs1553192091 |
|
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)
|
rs1553192783 |
|
NM_000902.4(MME):c.1265C>A (p.Ala422Asp)
|
rs777476150 |
|
NM_000902.4(MME):c.1272del (p.Arg425fs)
|
rs1060499935 |
|
NM_000902.4(MME):c.1666C>T (p.Pro556Ser)
|
rs1559961997 |
|
NM_000902.4(MME):c.1861T>C (p.Cys621Arg)
|
rs879253752 |
|
NM_000902.4(MME):c.1904G>A (p.Gly635Asp)
|
rs151302020 |
|
NM_000902.4(MME):c.1972G>A (p.Ala658Thr)
|
rs1559963660 |
|
NM_000902.4(MME):c.439+2T>A
|
rs1057519024 |
|
NM_000902.4(MME):c.467del (p.Pro156fs)
|
rs749320057 |
|
NM_000902.4(MME):c.654+1G>A
|
rs1057519023 |
|
NM_000902.4(MME):c.655-2A>G
|
rs765591205 |
|
NM_000902.4(MME):c.661C>T (p.Gln221Ter)
|
rs879253751 |
|
NM_000902.4(MME):c.71G>A (p.Trp24Ter)
|
rs886039755 |
|
NM_000902.4(MME):c.769C>A (p.Arg257Ser)
|
rs145687755 |
|
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.1010G>T (p.Gly337Val)
|
|
|
NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys)
|
rs864309705 |
|
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176 |
|
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772 |
|
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216 |
|
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=)
|
rs746959606 |
|
NM_001005360.2(DNM2):c.1101C>T (p.His367=)
|
rs768651920 |
|
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092 |
|
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090 |
|
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089 |
|
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=)
|
rs563985581 |
|
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met)
|
rs879253980 |
|
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val)
|
rs186762327 |
|
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg)
|
rs1555710681 |
|
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
|
|
|
NM_001005360.2(DNM2):c.1335+1G>A
|
|
|
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
|
|
|
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296 |
|
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500 |
|
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091 |
|
NM_001005360.2(DNM2):c.1422+9C>T
|
rs199952853 |
|
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840 |
|
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
|
|
|
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905 |
|
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.1565G>A (p.Arg522His)
|
rs587783595 |
|
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
|
|
|
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser)
|
rs121909093 |
|
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys)
|
rs121909093 |
|
NM_001005360.2(DNM2):c.161+3G>A
|
rs1555696272 |
|
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284 |
|
NM_001005360.2(DNM2):c.162-6del
|
rs766449694 |
|
NM_001005360.2(DNM2):c.162-7C>A
|
rs148318860 |
|
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489 |
|
NM_001005360.2(DNM2):c.1664_1671+1del
|
rs1568314339 |
|
NM_001005360.2(DNM2):c.1671+3G>C
|
|
|
NM_001005360.2(DNM2):c.1675_1677del (p.Lys559del)
|
|
|
NM_001005360.2(DNM2):c.1681_1683AAG[1] (p.Lys562del)
|
|
|
NM_001005360.2(DNM2):c.1684A>G (p.Lys562Glu)
|
rs121909088 |
|
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His)
|
rs121909094 |
|
NM_001005360.2(DNM2):c.1716C>A (p.Ile572=)
|
rs776999450 |
|
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216 |
|
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
|
|
|
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
|
|
|
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.177C>T (p.Arg59=)
|
rs762795230 |
|
NM_001005360.2(DNM2):c.1781+6G>T
|
rs1568318838 |
|
NM_001005360.2(DNM2):c.1782-4G>A
|
rs767424969 |
|
NM_001005360.2(DNM2):c.1782-4G>C
|
rs767424969 |
|
NM_001005360.2(DNM2):c.1782-5C>T
|
rs200103145 |
|
NM_001005360.2(DNM2):c.1782-7C>A
|
rs200843089 |
|
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191 |
|
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
|
|
|
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp)
|
rs1555715869 |
|
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095 |
|
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
|
|
|
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919 |
|
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390 |
|
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)
|
|
|
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.2059-5C>T
|
rs377150057 |
|
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657 |
|
NM_001005360.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)
|
|
|
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
|
|
|
NM_001005360.2(DNM2):c.210T>C (p.Ile70=)
|
rs878854149 |
|
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=)
|
rs1555716924 |
|
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
|
|
|
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326 |
|
NM_001005360.2(DNM2):c.216G>A (p.Gln72=)
|
rs368075301 |
|
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)
|
|
|
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
|
|
|
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
|
|
|
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
|
|
|
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
|
|
|
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138 |
|
NM_001005360.2(DNM2):c.235+6A>G
|
rs113192269 |
|
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys)
|
rs1555717200 |
|
NM_001005360.2(DNM2):c.236-8C>G
|
rs143084059 |
|
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
|
|
|
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687 |
|
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)
|
|
|
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
|
|
|
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
|
|
|
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537 |
|
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
|
|
|
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382 |
|
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro)
|
rs1253864930 |
|
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669 |
|
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585 |
|
NM_001005360.2(DNM2):c.2543+7C>G
|
rs201979143 |
|
NM_001005360.2(DNM2):c.2544_2546delCAG
|
rs1568325729 |
|
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=)
|
rs761141093 |
|
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590 |
|
NM_001005360.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)
|
|
|
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548 |
|
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
|
|
|
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
|
|
|
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
|
|
|
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459 |
|
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
|
|
|
NM_001005360.2(DNM2):c.33G>A (p.Pro11=)
|
rs779502758 |
|
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
|
|
|
NM_001005360.2(DNM2):c.384C>T (p.His128=)
|
|
|
NM_001005360.2(DNM2):c.386-6T>A
|
rs114623441 |
|
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
|
|
|
NM_001005360.2(DNM2):c.480C>T (p.Ile160=)
|
rs140036663 |
|
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547 |
|
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
|
|
|
NM_001005360.2(DNM2):c.519T>C (p.Ala173=)
|
rs77702567 |
|
NM_001005360.2(DNM2):c.528C>T (p.Pro176=)
|
rs147579870 |
|
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
|
|
|
NM_001005360.2(DNM2):c.555C>T (p.Asp185=)
|
rs140788791 |
|
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)
|
|
|
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
|
|
|
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270 |
|
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
|
|
|
NM_001005360.2(DNM2):c.648C>T (p.Ala216=)
|
rs1060504950 |
|
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
|
|
|
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)
|
|
|
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.750A>G (p.Ala250=)
|
rs202214529 |
|
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
|
|
|
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
|
|
|
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674 |
|
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
|
|
|
NM_001005360.2(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988 |
|
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
|
|
|
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
|
|
|
NM_001005360.2(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378 |
|
NM_001005360.2(DNM2):c.81C>T (p.Cys27=)
|
rs534605878 |
|
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met)
|
rs746387165 |
|
NM_001005360.2(DNM2):c.822G>A (p.Thr274=)
|
rs201763720 |
|
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679 |
|
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)
|
|
|
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235 |
|
NM_001005360.2(DNM2):c.882G>A (p.Pro294=)
|
rs144790170 |
|
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.90C>T (p.Asp30=)
|
rs759919549 |
|
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_001005361.2(DNM2):c.1241A>G (p.Lys414Arg)
|
rs199927590 |
|
NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val)
|
|
|
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro)
|
rs730882234 |
|
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs)
|
rs786201017 |
|
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.826del (p.Ser276fs)
|
rs886037748 |
|
NM_001034850.2(RETREG1):c.873+2T>C
|
rs137852738 |
|
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739 |
|
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140 |
|
NM_001039550.2(DNAJB2):c.229+1G>A
|
rs730882139 |
|
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter)
|
rs797045039 |
|
NM_001039550.2(DNAJB2):c.352+1G>A
|
rs756614404 |
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823 |
|
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
|
|
|
NM_001130089.1(KARS1):c.1262G>A (p.Arg421Gln)
|
rs149772470 |
|
NM_001130089.1(KARS1):c.307-6del
|
rs370077957 |
|
NM_001130089.1(KARS1):c.307-7_307-6del
|
rs370077957 |
|
NM_001130089.1(KARS1):c.398T>A (p.Leu133His)
|
rs267607194 |
|
NM_001130089.1(KARS1):c.514_515dup (p.Tyr173fs)
|
rs587776688 |
|
NM_001130089.1(KARS1):c.524_525dup (p.Arg176fs)
|
|
|
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
|
|
|
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
|
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690 |
|
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
|
|
|
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
|
|
|
NM_001135242.2(NDRG1):c.64-20dup
|
rs756038946 |
|
NM_001136473.1(LITAF):c.*107C>T
|
|
|
NM_001136473.1(LITAF):c.*118G>A
|
rs864622744 |
|
NM_001136473.1(LITAF):c.*24G>A
|
rs797044847 |
|
NM_001136473.1(LITAF):c.*42C>A
|
rs281865135 |
|
NM_001136473.1(LITAF):c.*42C>T
|
rs281865135 |
|
NM_001136473.1(LITAF):c.*43C>G
|
rs797044848 |
|
NM_001136473.1(LITAF):c.*43C>T
|
|
|
NM_001136473.1(LITAF):c.*49G>A
|
|
|
NM_001136473.1(LITAF):c.*51G>A
|
|
|
NM_001136473.1(LITAF):c.*57G>A
|
|
|
NM_001136473.1(LITAF):c.*63C>T
|
|
|
NM_001136473.1(LITAF):c.*68C>A
|
rs374918259 |
|
NM_001136473.1(LITAF):c.*69G>A
|
rs121908615 |
|
NM_001136473.1(LITAF):c.*96G>A
|
rs543022814 |
|
NM_001136473.1(LITAF):c.108T>G (p.Pro36=)
|
rs140990446 |
|
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser)
|
rs375202318 |
|
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
|
|
|
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602 |
|
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser)
|
rs752978718 |
|
NM_001136473.1(LITAF):c.17-3C>T
|
|
|
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
|
|
|
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser)
|
rs1555466907 |
|
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
|
|
|
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.234G>A (p.Thr78=)
|
rs9282774 |
|
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
|
|
|
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
|
|
|
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=)
|
rs149184234 |
|
NM_001136473.1(LITAF):c.241G>A (p.Val81Met)
|
rs201653834 |
|
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr)
|
rs1267030887 |
|
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
|
|
|
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
|
|
|
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
|
NM_001136473.1(LITAF):c.27G>A (p.Ala9=)
|
rs149518815 |
|
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647 |
|
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
|
|
|
NM_001136473.1(LITAF):c.330C>T (p.Asn110=)
|
rs139116481 |
|
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
|
|
|
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134 |
|
NM_001136473.1(LITAF):c.333C>T (p.Ala111=)
|
rs34448402 |
|
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519 |
|
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val)
|
rs1567235442 |
|
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520 |
|
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521 |
|
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val)
|
rs104894522 |
|
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
|
|
|
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990 |
|
NM_001136473.1(LITAF):c.51A>G (p.Pro17=)
|
rs751525365 |
|
NM_001136473.1(LITAF):c.54C>T (p.Ser18=)
|
rs150211233 |
|
NM_001136473.1(LITAF):c.6G>A (p.Ser2=)
|
rs147187481 |
|
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile)
|
rs767809270 |
|
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479 |
|
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)
|
rs141326782 |
|
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
|
|
|
NM_001164731.2(REEP1):c.223-2A>G
|
rs387907242 |
|
NM_001164731.2(REEP1):c.25-18131T>A
|
|
|
NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp)
|
rs587781248 |
|
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
|
|
|
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729 |
|
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)
|
rs1268129848 |
|
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
|
|
|
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
|
|
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796 |
|
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
|
|
|
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.1308C>T (p.Tyr436=)
|
rs768240412 |
|
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
|
|
|
NM_001303256.3(MORC2):c.1370-3C>T
|
|
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110 |
|
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
|
|
|
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
|
|
|
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
|
|
|
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.1499-9T>C
|
rs201213165 |
|
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)
|
rs1555938391 |
|
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
|
|
|
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
|
|
|
NM_001303256.3(MORC2):c.1605-3C>T
|
|
|
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
|
|
|
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
|
|
|
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
|
|
|
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814 |
|
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
|
|
|
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
|
|
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
|
|
|
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)
|
rs146972491 |
|
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
|
|
|
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)
|
rs1214680334 |
|
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
|
|
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)
|
rs1555937777 |
|
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)
|
rs1569190645 |
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
|
|
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
|
|
|
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=)
|
rs1555937681 |
|
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
|
|
|
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)
|
rs371710965 |
|
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
|
|
|
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
|
|
|
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
|
|
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873 |
|
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
|
|
|
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
|
|
|
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)
|
rs897158764 |
|
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
|
|
|
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.2179A>G (p.Ile727Val)
|
|
|
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)
|
rs1555942389 |
|
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
|
|
|
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)
|
rs41279975 |
|
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
|
|
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del)
|
rs1247915167 |
|
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
|
|
|
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)
|
rs369384586 |
|
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
|
|
|
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=)
|
rs377574758 |
|
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
|
|
|
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905 |
|
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
|
|
|
NM_001303256.3(MORC2):c.2380+6C>G
|
rs1555936909 |
|
NM_001303256.3(MORC2):c.2381-3C>T
|
|
|
NM_001303256.3(MORC2):c.2381-7T>C
|
rs754758325 |
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971 |
|
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=)
|
rs140142437 |
|
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)
|
|
|
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)
|
rs1388475410 |
|
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
|
|
|
NM_001303256.3(MORC2):c.2649C>T (p.Val883=)
|
rs189421529 |
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
|
|
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=)
|
rs565441094 |
|
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
|
|
|
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)
|
rs1555936530 |
|
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
|
|
|
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=)
|
rs147997704 |
|
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe)
|
rs1569188333 |
|
NM_001303256.3(MORC2):c.2747+5_2747+6del
|
rs67357185 |
|
NM_001303256.3(MORC2):c.2747+6T>C
|
|
|
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)
|
rs767914603 |
|
NM_001303256.3(MORC2):c.276T>C (p.Pro92=)
|
rs142640132 |
|
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
|
|
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)
|
rs1485425350 |
|
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)
|
rs771410096 |
|
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=)
|
rs372404658 |
|
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
|
|
|
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=)
|
rs777775099 |
|
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=)
|
rs765411579 |
|
NM_001303256.3(MORC2):c.3030+6C>G
|
|
|
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=)
|
rs138812699 |
|
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)
|
rs149110760 |
|
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)
|
|
|
NM_001303256.3(MORC2):c.399G>A (p.Thr133=)
|
rs141171446 |
|
NM_001303256.3(MORC2):c.427-4A>G
|
rs749183153 |
|
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)
|
rs186458188 |
|
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
|
|
|
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)
|
rs541114863 |
|
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
|
|
|
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)
|
rs1555940315 |
|
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)
|
rs76273991 |
|
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
|
|
|
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
|
|
|
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.732C>T (p.Ala244=)
|
rs371351399 |
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503 |
|
NM_001303256.3(MORC2):c.774T>C (p.His258=)
|
rs747931761 |
|
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu)
|
rs368260550 |
|
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
|
|
|
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.839C>T (p.Thr280Met)
|
rs764379949 |
|
NM_001303256.3(MORC2):c.870G>A (p.Gln290=)
|
rs766060409 |
|
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)
|
rs772766261 |
|
NM_001303256.3(MORC2):c.927A>G (p.Ala309=)
|
rs1291021388 |
|
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
|
|
|
NM_001303256.3(MORC2):c.956G>A (p.Arg319His)
|
rs1163530787 |
|
NM_001303256.3(MORC2):c.966A>T (p.Gly322=)
|
rs16989204 |
|
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_001304480.1(FGD4):c.193A>T (p.Ile65Leu)
|
rs886049253 |
|
NM_001304480.1(FGD4):c.301C>A (p.Pro101Thr)
|
rs199744649 |
|
NM_001304481.1(FGD4):c.8del (p.Gly3fs)
|
rs1357153004 |
|
NM_001316772.1(GARS1):c.-207C>G
|
rs903029869 |
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
|
|
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)
|
rs141228634 |
|
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)
|
|
|
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
|
|
|
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
|
|
|
NM_001349253.2(SCN11A):c.4057-1G>A
|
|
|
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)
|
rs201107889 |
|
NM_001362931.2(GDAP1):c.694+932_694+1314del
|
rs1554548327 |
|
NM_001365088.1(SLC12A6):c.1118+1G>A
|
rs762730861 |
|
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)
|
|
|
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs)
|
rs1555378419 |
|
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
|
|
|
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_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622 |
|
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
|
|
|
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=)
|
rs1555411373 |
|
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)
|
rs1567019064 |
|
NM_001376.5(DYNC1H1):c.10198-4C>A
|
rs1555411389 |
|
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=)
|
rs371853975 |
|
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp)
|
rs1315999225 |
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497 |
|
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
|
|
|
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
|
|
|
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400 |
|
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=)
|
rs758827732 |
|
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
|
|
|
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=)
|
rs201109134 |
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128 |
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322 |
|
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=)
|
rs1060504512 |
|
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461 |
|
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=)
|
rs143068719 |
|
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453 |
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756 |
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760 |
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
|
|
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500 |
|
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=)
|
rs370397467 |
|
NM_001376.5(DYNC1H1):c.11055+6G>A
|
|
|
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)
|
rs771355909 |
|
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=)
|
rs149806996 |
|
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=)
|
rs182767009 |
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783 |
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717 |
|
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG
|
rs762712158 |
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835 |
|
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)
|
rs369351359 |
|
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)
|
rs372511563 |
|
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=)
|
rs1555411851 |
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873 |
|
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)
|
rs1239478672 |
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519 |
|
NM_001376.5(DYNC1H1):c.11691-10C>T
|
rs771362494 |
|
NM_001376.5(DYNC1H1):c.11691-4G>T
|
rs201810550 |
|
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)
|
rs17540735 |
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238 |
|
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=)
|
rs780971776 |
|
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=)
|
rs151307859 |
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515 |
|
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
|
|
|
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)
|
rs750305144 |
|
NM_001376.5(DYNC1H1):c.11941+2T>A
|
|
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684 |
|
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
|
|
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519 |
|
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
|
rs1446298826 |
|
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980 |
|
NM_001376.5(DYNC1H1):c.12103-9T>C
|
rs939623360 |
|
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
|
|
|
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His)
|
rs1271427633 |
|
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
|
|
|
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=)
|
rs368830742 |
|
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=)
|
rs1060504511 |
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196 |
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929 |
|
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)
|
rs114906811 |
|
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)
|
rs114906811 |
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095 |
|
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=)
|
rs1041126638 |
|
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=)
|
rs549895432 |
|
NM_001376.5(DYNC1H1):c.12276-5T>C
|
rs1555412076 |
|
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
|
|
|
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)
|
rs1060499574 |
|
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=)
|
rs774128776 |
|
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)
|
rs1260546515 |
|
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=)
|
rs757449756 |
|
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=)
|
rs146075696 |
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281 |
|
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)
|
rs754437318 |
|
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
|
|
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839 |
|
NM_001376.5(DYNC1H1):c.12514-3C>T
|
rs761866611 |
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468 |
|
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=)
|
rs1489755183 |
|
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=)
|
rs753248251 |
|
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln)
|
rs140013253 |
|
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=)
|
rs145849008 |
|
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=)
|
rs1288014241 |
|
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
|
|
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412 |
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795 |
|
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
|
|
|
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=)
|
rs780271275 |
|
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=)
|
rs17512877 |
|
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=)
|
rs751398567 |
|
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)
|
rs1555412242 |
|
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met)
|
rs774296708 |
|
NM_001376.5(DYNC1H1):c.13006+4G>A
|
|
|
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)
|
rs747829220 |
|
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=)
|
rs773232010 |
|
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=)
|
rs181697853 |
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132 |
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609 |
|
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=)
|
rs369577172 |
|
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=)
|
rs372518648 |
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483 |
|
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr)
|
rs768797999 |
|
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.13176C>T (p.Pro4392=)
|
rs766805479 |
|
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.13192C>T (p.Leu4398Phe)
|
rs144570049 |
|
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=)
|
rs138022242 |
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650 |
|
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile)
|
rs1555412618 |
|
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
|
|
|
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg)
|
rs763724110 |
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
|
|
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042 |
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540 |
|
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
|
|
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479 |
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657 |
|
NM_001376.5(DYNC1H1):c.13373-3C>G
|
rs1567025991 |
|
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.13440C>T (p.Ser4480=)
|
rs150286673 |
|
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn)
|
rs1243385324 |
|
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+8C>T
|
rs200901713 |
|
NM_001376.5(DYNC1H1):c.13516-10C>A
|
|
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990 |
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
|
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
|
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942 |
|
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del)
|
rs1013209915 |
|
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)
|
rs886050377 |
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638 |
|
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
|
|
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834 |
|
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=)
|
rs765791872 |
|
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
|
|
|
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.13808G>T (p.Ser4603Ile)
|
rs200731839 |
|
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)
|
rs879254286 |
|
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)
|
rs781130520 |
|
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)
|
rs750353606 |
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883 |
|
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=)
|
rs141961494 |
|
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn)
|
rs777919963 |
|
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=)
|
rs1060504508 |
|
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.1466C>T (p.Thr489Met)
|
rs773725715 |
|
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
|
|
|
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)
|
rs1298953581 |
|
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=)
|
rs761306770 |
|
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.1564G>A (p.Glu522Lys)
|
|
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906 |
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566 |
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
|
|
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His)
|
rs587781253 |
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810 |
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564 |
|
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.1911C>T (p.His637=)
|
rs376398498 |
|
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
|
|
|
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His)
|
rs1244748017 |
|
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=)
|
rs1555408339 |
|
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
|
|
|
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
|
|
|
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met)
|
rs563050462 |
|
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=)
|
rs1555408347 |
|
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=)
|
rs1555408353 |
|
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=)
|
rs763561186 |
|
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His)
|
rs759802064 |
|
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=)
|
rs763236829 |
|
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=)
|
rs757752556 |
|
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
|
|
|
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
|
|
|
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.2283A>G (p.Pro761=)
|
rs202008601 |
|
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)
|
rs1358924141 |
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083 |
|
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile)
|
rs766014166 |
|
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
|
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963 |
|
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly)
|
rs751092252 |
|
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=)
|
rs145405293 |
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054 |
|
NM_001376.5(DYNC1H1):c.2539-9T>C
|
rs750362256 |
|
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
|
|
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194 |
|
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)
|
rs75113705 |
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082 |
|
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=)
|
rs762508534 |
|
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
|
|
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189 |
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298 |
|
NM_001376.5(DYNC1H1):c.2719-9_2719-7del
|
rs566271356 |
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657 |
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994 |
|
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
|
|
|
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475 |
|
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
|
|
|
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=)
|
rs963837216 |
|
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile)
|
rs1332902634 |
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624 |
|
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819 |
|
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.3096C>G (p.Ala1032=)
|
rs1060504507 |
|
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)
|
rs867890249 |
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961 |
|
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
|
|
|
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
|
|
|
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=)
|
rs767157510 |
|
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)
|
rs772761222 |
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844 |
|
NM_001376.5(DYNC1H1):c.345-3T>G
|
rs1060502203 |
|
NM_001376.5(DYNC1H1):c.345-4T>G
|
rs1060504510 |
|
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=)
|
rs776275624 |
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313 |
|
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.3642C>T (p.Ile1214=)
|
rs778273904 |
|
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.3766G>A (p.Asp1256Asn)
|
rs760571415 |
|
NM_001376.5(DYNC1H1):c.3804+9C>T
|
rs377635872 |
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489 |
|
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=)
|
rs34690489 |
|
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
|
|
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957 |
|
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu)
|
rs1131691955 |
|
NM_001376.5(DYNC1H1):c.4075-5G>A
|
rs750127672 |
|
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=)
|
rs753684857 |
|
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)
|
rs143421325 |
|
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=)
|
rs373334821 |
|
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn)
|
rs1555409283 |
|
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=)
|
rs112261870 |
|
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr)
|
rs1567006255 |
|
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
|
|
|
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=)
|
rs150374820 |
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200 |
|
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)
|
rs367614843 |
|
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=)
|
rs780278262 |
|
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr)
|
rs1567006359 |
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531 |
|
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=)
|
rs756763142 |
|
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=)
|
rs116089522 |
|
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)
|
rs761695197 |
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188 |
|
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)
|
rs1327664377 |
|
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)
|
rs150900416 |
|
NM_001376.5(DYNC1H1):c.4543-7C>T
|
rs1555409395 |
|
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val)
|
rs140905741 |
|
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu)
|
rs762246186 |
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437 |
|
NM_001376.5(DYNC1H1):c.4709+6G>T
|
rs1555409403 |
|
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=)
|
rs143297786 |
|
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=)
|
rs374033335 |
|
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)
|
rs1060502204 |
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258 |
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211 |
|
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
|
|
|
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
|
|
|
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=)
|
rs1555407893 |
|
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys)
|
rs1321265961 |
|
NM_001376.5(DYNC1H1):c.5050-3C>T
|
|
|
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val)
|
rs1555409556 |
|
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys)
|
rs1555409562 |
|
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)
|
rs1555409563 |
|
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
|
|
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354 |
|
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
|
|
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr)
|
rs1555409568 |
|
NM_001376.5(DYNC1H1):c.5238+7T>C
|
rs746205822 |
|
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595 |
|
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
|
|
|
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)
|
rs780345145 |
|
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)
|
rs144147463 |
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955 |
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439 |
|
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442 |
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853 |
|
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=)
|
rs761933814 |
|
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr)
|
rs200722698 |
|
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=)
|
rs143258359 |
|
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
|
|
|
NM_001376.5(DYNC1H1):c.5433_5433+27dup
|
|
|
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=)
|
rs762857766 |
|
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs)
|
rs1555409622 |
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873 |
|
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
|
|
|
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=)
|
rs552313071 |
|
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=)
|
rs139070737 |
|
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=)
|
rs1555409674 |
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287 |
|
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=)
|
rs758999145 |
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016 |
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480 |
|
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val)
|
rs1566996430 |
|
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
|
|
|
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)
|
rs1555407906 |
|
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=)
|
rs374997831 |
|
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln)
|
rs1060502207 |
|
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)
|
rs759525537 |
|
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=)
|
rs769782375 |
|
NM_001376.5(DYNC1H1):c.6406-4G>A
|
rs374602014 |
|
NM_001376.5(DYNC1H1):c.6406-4G>C
|
rs374602014 |
|
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)
|
rs765613848 |
|
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
|
|
|
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr)
|
rs1060502208 |
|
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)
|
rs147905977 |
|
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=)
|
rs374440380 |
|
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=)
|
rs150603103 |
|
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn)
|
rs376274132 |
|
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)
|
rs200339812 |
|
NM_001376.5(DYNC1H1):c.6857+10_6857+12del
|
rs773209855 |
|
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val)
|
rs1567010983 |
|
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=)
|
rs768991876 |
|
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=)
|
rs138326082 |
|
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=)
|
rs1555410008 |
|
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)
|
rs142335110 |
|
NM_001376.5(DYNC1H1):c.7014+3A>G
|
rs1426193095 |
|
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
|
|
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439 |
|
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)
|
rs550161377 |
|
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His)
|
rs1028991666 |
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830 |
|
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
|
|
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
|
|
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
|
|
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094 |
|
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)
|
rs587780330 |
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720 |
|
NM_001376.5(DYNC1H1):c.7242+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=)
|
rs141665695 |
|
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=)
|
rs762065704 |
|
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=)
|
rs200197781 |
|
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
|
|
|
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe)
|
rs1161281176 |
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734 |
|
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
|
|
|
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His)
|
rs1441059709 |
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090 |
|
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)
|
rs1018948570 |
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158 |
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165 |
|
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
|
|
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331 |
|
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
|
|
|
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)
|
rs879253979 |
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979 |
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179 |
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634 |
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405 |
|
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
|
|
|
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=)
|
rs747067301 |
|
NM_001376.5(DYNC1H1):c.7614+6C>T
|
rs1567012532 |
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460 |
|
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
|
|
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328 |
|
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
|
|
|
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=)
|
rs760083766 |
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535 |
|
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg)
|
rs1555410313 |
|
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=)
|
rs200413541 |
|
NM_001376.5(DYNC1H1):c.8178-8G>C
|
rs758234041 |
|
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met)
|
rs376679623 |
|
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)
|
rs202023896 |
|
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=)
|
rs138710201 |
|
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510 |
|
NM_001376.5(DYNC1H1):c.8343+5G>A
|
|
|
NM_001376.5(DYNC1H1):c.8344-4A>G
|
rs200913985 |
|
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=)
|
rs771269792 |
|
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=)
|
rs534435923 |
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737 |
|
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
|
|
|
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233 |
|
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
|
|
|
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=)
|
rs149526821 |
|
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn)
|
rs780522040 |
|
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met)
|
rs575806819 |
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156 |
|
NM_001376.5(DYNC1H1):c.8638-7T>C
|
rs201446705 |
|
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=)
|
rs758989267 |
|
NM_001376.5(DYNC1H1):c.8772-7G>A
|
rs758936427 |
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029 |
|
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=)
|
rs755723273 |
|
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala)
|
rs1555410902 |
|
NM_001376.5(DYNC1H1):c.8886+4C>T
|
rs1349379812 |
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135 |
|
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=)
|
rs1555410937 |
|
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
|
|
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935 |
|
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr)
|
rs1555410940 |
|
NM_001376.5(DYNC1H1):c.915A>G (p.Lys305=)
|
rs1566996726 |
|
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=)
|
rs201041097 |
|
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg)
|
rs387906738 |
|
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=)
|
rs1555410949 |
|
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=)
|
|
|
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=)
|
rs1555410963 |
|
NM_001376.5(DYNC1H1):c.9263+5G>A
|
rs200144865 |
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468 |
|
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=)
|
rs1060504513 |
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762 |
|
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu)
|
rs905098104 |
|
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=)
|
rs145095254 |
|
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
|
|
|
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr)
|
rs1311056505 |
|
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=)
|
rs202053613 |
|
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
|
|
|
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=)
|
rs1555411131 |
|
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>A
|
|
|
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu)
|
rs1567017900 |
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350 |
|
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln)
|
rs1567018077 |
|
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
|
|
|
NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg)
|
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165 |
|
NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys)
|
|
|
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser)
|
rs778311776 |
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324 |
|
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
|
|
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217 |
|
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
|
|
|
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
|
rs757158514 |
|
NM_001540.5(HSPB1):c.204G>C (p.Val68=)
|
rs1554614462 |
|
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg)
|
rs1405359814 |
|
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe)
|
rs1231796327 |
|
NM_001540.5(HSPB1):c.243C>T (p.Leu81=)
|
rs1478776061 |
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668 |
|
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.257C>T (p.Ser86Leu)
|
rs749378020 |
|
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.286C>A (p.Arg96Ser)
|
|
|
NM_001540.5(HSPB1):c.29T>A (p.Leu10His)
|
rs772216758 |
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574 |
|
NM_001540.5(HSPB1):c.318G>C (p.Pro106=)
|
rs750349055 |
|
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
|
|
|
NM_001540.5(HSPB1):c.365-13C>T
|
|
|
NM_001540.5(HSPB1):c.365-5C>T
|
rs368936457 |
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768 |
|
NM_001540.5(HSPB1):c.365-7C>G
|
rs201897299 |
|
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn)
|
rs755233365 |
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859 |
|
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>T (p.Arg127Trp)
|
rs29001571 |
|
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.380G>T (p.Arg127Leu)
|
rs587781250 |
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005 |
|
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
|
|
|
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
|
|
|
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr)
|
rs28939680 |
|
NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys)
|
|
|
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe)
|
rs28939680 |
|
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp)
|
rs28939681 |
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022 |
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112 |
|
NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln)
|
|
|
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
|
|
|
NM_001540.5(HSPB1):c.429-7C>T
|
rs375972376 |
|
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)
|
|
|
NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala)
|
|
|
NM_001540.5(HSPB1):c.505del (p.Met169fs)
|
|
|
NM_001540.5(HSPB1):c.512del (p.Lys171fs)
|
rs1554614680 |
|
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter)
|
rs1060503021 |
|
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter)
|
rs863225023 |
|
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter)
|
rs150110356 |
|
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
|
|
|
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)
|
rs1422978230 |
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020 |
|
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser)
|
rs777225392 |
|
NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp)
|
|
|
NM_001540.5(HSPB1):c.567C>T (p.Ala189=)
|
rs528301561 |
|
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs)
|
rs771457306 |
|
NM_001540.5(HSPB1):c.573T>C (p.Leu191=)
|
rs34771861 |
|
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
|
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772 |
|
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
|
|
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394 |
|
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
|
|
|
NM_001540.5(HSPB1):c.99C>T (p.Phe33=)
|
rs762032846 |
|
NM_001540.5(HSPB1):c.9G>A (p.Glu3=)
|
rs77586767 |
|
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156 |
|
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter)
|
rs146946034 |
|
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met)
|
|
|
NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr)
|
rs387906792 |
|
NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278 |
|
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala)
|
rs797044801 |
|
NM_001605.2(AARS1):c.2521-3C>T
|
rs200586605 |
|
NM_001605.2(AARS1):c.2715T>C (p.Val905=)
|
rs4081753 |
|
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346 |
|
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709 |
|
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu)
|
rs1555542415 |
|
NM_001605.2(AARS1):c.497T>G (p.Ile166Ser)
|
rs199997425 |
|
NM_001605.2(AARS1):c.618G>T (p.Gln206His)
|
|
|
NM_001605.2(AARS1):c.903C>T (p.His301=)
|
rs2070203 |
|
NM_001605.2(AARS1):c.986G>A (p.Arg329His)
|
rs267606621 |
|
NM_001658.4(ARF1):c.293A>C (p.Glu98Ala)
|
|
|
NM_001658.4(ARF1):c.293A>G (p.Glu98Gly)
|
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260 |
|
NM_002047.4(GARS1):c.1031+1G>A
|
|
|
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.124C>G (p.Pro42Ala)
|
rs1049402 |
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838 |
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647 |
|
NM_002047.4(GARS1):c.1809+1G>A
|
|
|
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)
|
rs201358272 |
|
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)
|
rs879254346 |
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401 |
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236 |
|
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu)
|
rs201728920 |
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645 |
|
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
|
|
|
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
|
|
|
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
|
|
|
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe)
|
rs1554337974 |
|
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
|
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643 |
|
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648 |
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438 |
|
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)
|
rs863223328 |
|
NM_002047.4(GARS1):c.998A>T (p.Glu333Val)
|
rs863224873 |
|
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn)
|
rs144322728 |
|
NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr)
|
rs863225124 |
|
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile)
|
rs143473232 |
|
NM_002109.6(HARS1):c.397G>T (p.Val133Phe)
|
rs1554107200 |
|
NM_002109.6(HARS1):c.401C>A (p.Pro134His)
|
rs863225122 |
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414 |
|
NM_002109.6(HARS1):c.464T>G (p.Val155Gly)
|
rs1239341211 |
|
NM_002109.6(HARS1):c.525T>G (p.Asp175Glu)
|
rs863225123 |
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203 |
|
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)
|
rs1554106881 |
|
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
|
|
|
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005 |
|
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
|
|
|
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
|
|
|
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231 |
|
NM_002180.2(IGHMBP2):c.1060+10C>T
|
rs200170825 |
|
NM_002180.2(IGHMBP2):c.1060+8G>T
|
rs201147313 |
|
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)
|
rs886043773 |
|
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146 |
|
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167 |
|
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
|
|
|
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)
|
rs724159959 |
|
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
|
|
|
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=)
|
rs140296831 |
|
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=)
|
rs145314949 |
|
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val)
|
rs876661217 |
|
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
|
|
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202 |
|
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=)
|
rs377631839 |
|
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn)
|
rs779654686 |
|
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg)
|
rs1566439723 |
|
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg)
|
rs1555246489 |
|
NM_002180.2(IGHMBP2):c.1236-6G>A
|
rs201538340 |
|
NM_002180.2(IGHMBP2):c.1236-6G>C
|
rs201538340 |
|
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val)
|
rs1465465295 |
|
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
|
|
|
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
|
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
|
|
|
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955 |
|
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
|
|
|
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780 |
|
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354 |
|
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
|
|
|
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170 |
|
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=)
|
rs78807992 |
|
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)
|
rs372181708 |
|
NM_002180.2(IGHMBP2):c.133del (p.Val45fs)
|
|
|
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val)
|
rs139000973 |
|
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
|
|
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro)
|
rs775232759 |
|
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714 |
|
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
|
|
|
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
|
|
|
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
|
|
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.1463del (p.Leu488fs)
|
|
|
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709 |
|
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920 |
|
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp)
|
rs764111837 |
|
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=)
|
rs538496164 |
|
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)
|
|
|
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430 |
|
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226 |
|
NM_002180.2(IGHMBP2):c.1538-8C>G
|
rs115320302 |
|
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665 |
|
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.1551C>T (p.Leu517=)
|
rs150549628 |
|
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)
|
|
|
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.1581C>T (p.Asp527=)
|
rs149736203 |
|
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr)
|
rs724159960 |
|
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703 |
|
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=)
|
rs988590959 |
|
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316 |
|
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
|
|
|
NM_002180.2(IGHMBP2):c.1632+4C>T
|
rs775832239 |
|
NM_002180.2(IGHMBP2):c.1633-2A>G
|
rs1566445029 |
|
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.1669C>G (p.Pro557Ala)
|
rs7122089 |
|
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.1681dup (p.Ile561fs)
|
rs1555247732 |
|
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu)
|
rs1566445093 |
|
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639 |
|
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly)
|
rs1566445153 |
|
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
|
|
|
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys)
|
rs1566445212 |
|
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789 |
|
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)
|
rs137852667 |
|
NM_002180.2(IGHMBP2):c.1756+4C>T
|
rs778913429 |
|
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val)
|
rs764900781 |
|
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061 |
|
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)
|
|
|
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750 |
|
NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=)
|
rs34617762 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=)
|
rs34658653 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=)
|
rs541245852 |
|
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
|
|
|
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.1848T>C (p.Thr616=)
|
rs1164401206 |
|
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu)
|
rs1264599893 |
|
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
|
|
|
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=)
|
rs769397483 |
|
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn)
|
rs775138577 |
|
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=)
|
rs1555247978 |
|
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile)
|
rs77822399 |
|
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)
|
|
|
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
|
|
|
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=)
|
rs1308205831 |
|
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
|
|
|
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=)
|
rs138396245 |
|
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588 |
|
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
|
|
|
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.2091G>A (p.Pro697=)
|
rs113615425 |
|
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)
|
|
|
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
|
|
|
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg)
|
rs1191974842 |
|
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=)
|
rs774145467 |
|
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)
|
|
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=)
|
rs139237340 |
|
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr)
|
rs2228206 |
|
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838 |
|
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=)
|
rs149684358 |
|
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln)
|
rs149185954 |
|
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
|
|
|
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=)
|
rs11228414 |
|
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772 |
|
NM_002180.2(IGHMBP2):c.2356del (p.Ala786fs)
|
|
|
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765 |
|
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930 |
|
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490 |
|
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)
|
|
|
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
|
|
|
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser)
|
rs751122806 |
|
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=)
|
rs624147 |
|
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln)
|
rs950453484 |
|
NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu)
|
|
|
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153 |
|
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=)
|
rs371840404 |
|
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
|
|
|
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=)
|
rs2228207 |
|
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207 |
|
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.256+9G>A
|
rs118015540 |
|
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
|
|
|
NM_002180.2(IGHMBP2):c.257-2A>G
|
rs1566424655 |
|
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)
|
rs1373247548 |
|
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)
|
|
|
NM_002180.2(IGHMBP2):c.2611+1G>T
|
rs786205090 |
|
NM_002180.2(IGHMBP2):c.2611+7C>T
|
rs1343219004 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile)
|
rs199614709 |
|
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407 |
|
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=)
|
rs1566448372 |
|
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133 |
|
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
|
|
|
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=)
|
rs779293148 |
|
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
|
|
|
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser)
|
rs145945230 |
|
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=)
|
rs146217031 |
|
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
|
|
|
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro)
|
rs1566448570 |
|
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
|
|
|
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys)
|
rs2275996 |
|
NM_002180.2(IGHMBP2):c.2784+1G>T
|
rs797044803 |
|
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138 |
|
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
|
|
|
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp)
|
rs373943338 |
|
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485 |
|
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
|
|
|
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser)
|
rs775514650 |
|
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
|
|
|
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388 |
|
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
|
|
|
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.2909_2910AG[1] (p.Arg971fs)
|
rs724159994 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
|
|
|
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=)
|
rs755792559 |
|
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met)
|
rs777591006 |
|
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=)
|
rs201760315 |
|
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759 |
|
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053 |
|
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
|
|
|
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
|
|
|
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met)
|
rs181657861 |
|
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)
|
|
|
NM_002180.2(IGHMBP2):c.366C>T (p.His122=)
|
rs144401213 |
|
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
|
|
|
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
|
|
|
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543 |
|
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
|
|
|
NM_002180.2(IGHMBP2):c.449+1G>A
|
rs797044802 |
|
NM_002180.2(IGHMBP2):c.449+1G>T
|
rs797044802 |
|
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser)
|
rs778232785 |
|
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)
|
|
|
NM_002180.2(IGHMBP2):c.547+1G>A
|
rs1057518588 |
|
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr)
|
rs548256623 |
|
NM_002180.2(IGHMBP2):c.548-10T>G
|
rs139207271 |
|
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
|
|
|
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val)
|
rs724159958 |
|
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666 |
|
NM_002180.2(IGHMBP2):c.639T>C (p.His213=)
|
rs764495455 |
|
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala)
|
rs1566427330 |
|
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
|
|
|
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg)
|
rs1555243301 |
|
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)
|
|
|
NM_002180.2(IGHMBP2):c.711+8G>A
|
rs1403938196 |
|
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=)
|
rs76690064 |
|
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser)
|
rs1555243999 |
|
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931 |
|
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)
|
|
|
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504 |
|
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
|
|
|
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.826C>T (p.Gln276Ter)
|
rs1566430156 |
|
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)
|
|
|
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)
|
|
|
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.928A>T (p.Thr310Ser)
|
|
|
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=)
|
rs1482496537 |
|
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter)
|
rs773690764 |
|
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)
|
rs746581714 |
|
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)
|
|
|
NM_002506.2(NGF):c.560G>A (p.Ser187Asn)
|
|
|
NM_002506.2(NGF):c.680C>A (p.Thr227Lys)
|
|
|
NM_002506.2(NGF):c.681_682del (p.Ala228fs)
|
|
|
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys)
|
rs121964869 |
|
NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys)
|
|
|
NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788 |
|
NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs)
|
|
|
NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg)
|
|
|
NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg)
|
|
|
NM_002529.3(NTRK1):c.1633-1G>T
|
|
|
NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe)
|
|
|
NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly)
|
|
|
NM_002529.3(NTRK1):c.1754del (p.Leu585fs)
|
|
|
NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter)
|
rs763758904 |
|
NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys)
|
|
|
NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs)
|
|
|
NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu)
|
|
|
NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys)
|
|
|
NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp)
|
|
|
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
|
|
|
NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter)
|
|
|
NM_002529.3(NTRK1):c.2328dup (p.Val777fs)
|
|
|
NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter)
|
|
|
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser)
|
|
|
NM_002529.3(NTRK1):c.354_359+3del
|
|
|
NM_002529.3(NTRK1):c.359+5G>T
|
|
|
NM_002529.3(NTRK1):c.429-1G>C
|
|
|
NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter)
|
|
|
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
|
|
|
NM_002529.3(NTRK1):c.574+1G>A
|
|
|
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro)
|
rs747711259 |
|
NM_002529.3(NTRK1):c.722dup (p.Gly242fs)
|
|
|
NM_002529.3(NTRK1):c.924_930del (p.Gln308fs)
|
|
|
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731 |
|
NM_002764.3(PRPS1):c.343A>G (p.Met115Val)
|
rs587781262 |
|
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732 |
|
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly)
|
rs587777150 |
|
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro)
|
rs869025594 |
|
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe)
|
rs587781263 |
|
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986 |
|
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)
|
|
|
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)
|
rs1569512576 |
|
NM_002972.4(SBF1):c.2605G>A (p.Val869Met)
|
rs200365973 |
|
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)
|
rs1404020990 |
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568 |
|
NM_002977.3(SCN9A):c.3993delinsTT (p.Leu1331fs)
|
rs606231279 |
|
NM_002977.3(SCN9A):c.4596G>A (p.Met1532Ile)
|
|
|
NM_003001.3(SDHC):c.-38G>A
|
rs112556972 |
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598 |
|
NM_003172.4(SURF1):c.107-2A>G
|
rs782726390 |
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228 |
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413 |
|
NM_003172.4(SURF1):c.588+1G>A
|
rs1219762677 |
|
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs)
|
rs864309500 |
|
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
|
rs1554768224 |
|
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs)
|
rs782316919 |
|
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.1012A>G (p.Ser338Gly)
|
|
|
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599 |
|
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.1082A>T (p.Glu361Val)
|
rs61737106 |
|
NM_003680.3(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578 |
|
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
|
|
|
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln)
|
|
|
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg)
|
rs764584188 |
|
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln)
|
rs1405248711 |
|
NM_003680.3(YARS1):c.1141-9C>G
|
rs761211081 |
|
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
|
|
|
NM_003680.3(YARS1):c.1179C>T (p.Asp393=)
|
rs373909518 |
|
NM_003680.3(YARS1):c.1180G>A (p.Val394Met)
|
rs863224717 |
|
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp)
|
|
|
NM_003680.3(YARS1):c.1218G>C (p.Leu406=)
|
rs699005 |
|
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg)
|
rs121908833 |
|
NM_003680.3(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022 |
|
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu)
|
|
|
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809 |
|
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys)
|
rs141955005 |
|
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro)
|
|
|
NM_003680.3(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410 |
|
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer)
|
|
|
NM_003680.3(YARS1):c.1476+2T>C
|
rs1553122620 |
|
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg)
|
rs768160751 |
|
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
|
|
|
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter)
|
rs1553122276 |
|
NM_003680.3(YARS1):c.1531A>G (p.Met511Val)
|
|
|
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val)
|
rs371220818 |
|
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala)
|
rs201687117 |
|
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
|
|
|
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
|
|
|
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
|
|
|
NM_003680.3(YARS1):c.205-2A>G
|
rs538137948 |
|
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg)
|
|
|
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.241_242delinsAT (p.Asp81Ile)
|
rs786204003 |
|
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr)
|
rs1553127237 |
|
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
|
|
|
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del)
|
rs786200893 |
|
NM_003680.3(YARS1):c.483G>C (p.Leu161=)
|
rs780528629 |
|
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
|
|
|
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg)
|
rs1473184666 |
|
NM_003680.3(YARS1):c.510+10G>C
|
rs201272488 |
|
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter)
|
rs1553124472 |
|
NM_003680.3(YARS1):c.52C>T (p.Leu18=)
|
rs147538442 |
|
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
|
|
|
NM_003680.3(YARS1):c.546A>G (p.Gln182=)
|
rs751440666 |
|
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
|
|
|
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
|
|
|
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys)
|
rs121908834 |
|
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln)
|
rs121908834 |
|
NM_003680.3(YARS1):c.60G>A (p.Glu20=)
|
rs143712443 |
|
NM_003680.3(YARS1):c.63T>C (p.Val21=)
|
rs138749370 |
|
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.795G>C (p.Lys265Asn)
|
rs141482636 |
|
NM_003680.3(YARS1):c.821-3T>C
|
|
|
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165 |
|
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn)
|
|
|
NM_003912.1:c.1480_1593del
|
|
|
NM_004082.4(DCTN1):c.1270G>C (p.Asp424His)
|
|
|
NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe)
|
|
|
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.1388G>T (p.Arg463Ile)
|
rs202219398 |
|
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val)
|
rs281864468 |
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375 |
|
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312 |
|
NM_004373.4(COX6A1):c.247-7_247-3del
|
rs587777783 |
|
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro)
|
rs775104487 |
|
NM_004637.5(RAB7A):c.180+9A>G
|
rs762831187 |
|
NM_004637.5(RAB7A):c.213G>A (p.Gln71=)
|
rs140299645 |
|
NM_004637.5(RAB7A):c.219C>T (p.Leu73=)
|
rs4548 |
|
NM_004637.5(RAB7A):c.21G>A (p.Val7=)
|
rs140857794 |
|
NM_004637.5(RAB7A):c.321C>T (p.Leu107=)
|
rs749227632 |
|
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe)
|
rs121909078 |
|
NM_004637.5(RAB7A):c.414G>T (p.Arg138=)
|
rs754928233 |
|
NM_004637.5(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751 |
|
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)
|
|
|
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)
|
|
|
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn)
|
rs756968558 |
|
NM_004637.5(RAB7A):c.87G>A (p.Val29=)
|
rs145441548 |
|
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082 |
|
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169 |
|
NM_004715.4(CTDP1):c.863+389C>T
|
rs113994102 |
|
NM_004715.4(CTDP1):c.978G>A (p.Thr326=)
|
rs599554 |
|
NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe)
|
|
|
NM_004990.4(MARS1):c.1091+2dup
|
rs754216322 |
|
NM_004990.4(MARS1):c.1095C>T (p.Ile365=)
|
rs1555167079 |
|
NM_004990.4(MARS1):c.1181G>A (p.Arg394His)
|
rs769544594 |
|
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
|
|
|
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
|
|
|
NM_004990.4(MARS1):c.1294-5C>T
|
rs149946100 |
|
NM_004990.4(MARS1):c.132C>T (p.Thr44=)
|
rs1555165361 |
|
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
|
|
|
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu)
|
rs1395622723 |
|
NM_004990.4(MARS1):c.1369-7A>C
|
rs377050640 |
|
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly)
|
rs1408685568 |
|
NM_004990.4(MARS1):c.144C>A (p.Val48=)
|
rs1018358556 |
|
NM_004990.4(MARS1):c.1500A>G (p.Lys500=)
|
rs2290297 |
|
NM_004990.4(MARS1):c.1673C>A (p.Pro558His)
|
rs771808261 |
|
NM_004990.4(MARS1):c.1689C>T (p.Val563=)
|
rs117833843 |
|
NM_004990.4(MARS1):c.1753+7A>G
|
rs117914586 |
|
NM_004990.4(MARS1):c.1754-1G>C
|
|
|
NM_004990.4(MARS1):c.1754-4C>A
|
rs377361080 |
|
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
|
rs117633211 |
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
|
|
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
|
rs587777718 |
|
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
|
|
|
NM_004990.4(MARS1):c.1968-8C>T
|
rs1209991469 |
|
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
|
|
|
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.2163G>C (p.Val721=)
|
rs762587995 |
|
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
|
|
|
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln)
|
rs113808165 |
|
NM_004990.4(MARS1):c.2209C>A (p.Arg737=)
|
rs139536122 |
|
NM_004990.4(MARS1):c.2256C>G (p.Leu752=)
|
rs201540140 |
|
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
|
|
|
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.2398C>A (p.Pro800Thr)
|
rs781249411 |
|
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
|
|
|
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro)
|
rs200404964 |
|
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
|
|
|
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)
|
rs780483586 |
|
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
|
|
|
NM_004990.4(MARS1):c.2532G>A (p.Ala844=)
|
rs73344102 |
|
NM_004990.4(MARS1):c.2610T>C (p.Ala870=)
|
rs769627922 |
|
NM_004990.4(MARS1):c.2613G>A (p.Ala871=)
|
rs373439522 |
|
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs)
|
rs1172463219 |
|
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn)
|
|
|
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg)
|
rs779548081 |
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015 |
|
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
|
|
|
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
|
|
|
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)
|
rs201007223 |
|
NM_004990.4(MARS1):c.414+9G>C
|
rs375026310 |
|
NM_004990.4(MARS1):c.42G>T (p.Pro14=)
|
rs144002827 |
|
NM_004990.4(MARS1):c.477C>T (p.Pro159=)
|
rs117101415 |
|
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.661G>A (p.Glu221Lys)
|
rs200334446 |
|
NM_004990.4(MARS1):c.663+8A>C
|
rs199843552 |
|
NM_004990.4(MARS1):c.66C>T (p.Ala22=)
|
rs200471304 |
|
NM_004990.4(MARS1):c.699T>G (p.Ile233Met)
|
rs201597392 |
|
NM_004990.4(MARS1):c.747G>A (p.Pro249=)
|
rs200490364 |
|
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro)
|
rs139033078 |
|
NM_004990.4(MARS1):c.792G>A (p.Arg264=)
|
rs141609469 |
|
NM_004990.4(MARS1):c.801C>T (p.Leu267=)
|
rs151260441 |
|
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
|
|
|
NM_004990.4(MARS1):c.831T>C (p.Asn277=)
|
rs367995771 |
|
NM_004990.4(MARS1):c.873C>T (p.Ala291=)
|
rs79531790 |
|
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys)
|
rs139661803 |
|
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs)
|
rs1555166943 |
|
NM_004990.4(MARS1):c.915C>T (p.Thr305=)
|
rs199641659 |
|
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser)
|
rs11540809 |
|
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
|
rs149782619 |
|
NM_005340.7(HINT1):c.111+6_111+7insC
|
rs770851222 |
|
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg)
|
rs762701283 |
|
NM_005340.7(HINT1):c.117T>C (p.Leu39=)
|
rs78949626 |
|
NM_005340.7(HINT1):c.152A>G (p.His51Arg)
|
rs397514491 |
|
NM_005340.7(HINT1):c.182C>T (p.Ser61Phe)
|
|
|
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)
|
rs397514492 |
|
NM_005340.7(HINT1):c.203A>T (p.Asp68Val)
|
rs371048016 |
|
NM_005340.7(HINT1):c.217-3C>T
|
|
|
NM_005340.7(HINT1):c.237T>A (p.Ile79=)
|
|
|
NM_005340.7(HINT1):c.242G>T (p.Gly81Val)
|
|
|
NM_005340.7(HINT1):c.243C>T (p.Gly81=)
|
rs1426690264 |
|
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg)
|
rs397514489 |
|
NM_005340.7(HINT1):c.266G>T (p.Gly89Val)
|
rs397514490 |
|
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys)
|
|
|
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp)
|
rs397514493 |
|
NM_005340.7(HINT1):c.289G>A (p.Val97Met)
|
rs1554088064 |
|
NM_005340.7(HINT1):c.2T>C (p.Met1Thr)
|
|
|
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter)
|
|
|
NM_005340.7(HINT1):c.329_330dup (p.Val111fs)
|
|
|
NM_005340.7(HINT1):c.330C>T (p.His110=)
|
rs139624223 |
|
NM_005340.7(HINT1):c.334C>A (p.His112Asn)
|
rs373849532 |
|
NM_005340.7(HINT1):c.341A>G (p.His114Arg)
|
|
|
NM_005340.7(HINT1):c.368G>A (p.Trp123Ter)
|
|
|
NM_005340.7(HINT1):c.81A>G (p.Ile27Met)
|
rs1561538396 |
|
NM_005391.4(PDK3):c.1083T>C (p.Leu361=)
|
rs746261967 |
|
NM_005391.4(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214 |
|
NM_005391.4(PDK3):c.1126G>A (p.Ala376Thr)
|
|
|
NM_005391.4(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445 |
|
NM_005391.4(PDK3):c.249-8C>T
|
rs1231289510 |
|
NM_005391.4(PDK3):c.282T>C (p.Tyr94=)
|
rs201198782 |
|
NM_005391.4(PDK3):c.320+6T>C
|
rs748960946 |
|
NM_005391.4(PDK3):c.336G>C (p.Leu112=)
|
rs372442017 |
|
NM_005391.4(PDK3):c.376A>G (p.Met126Val)
|
rs138321172 |
|
NM_005391.4(PDK3):c.473G>A (p.Arg158His)
|
rs397515323 |
|
NM_005391.4(PDK3):c.474C>T (p.Arg158=)
|
|
|
NM_005391.4(PDK3):c.486C>T (p.Arg162=)
|
|
|
NM_005391.4(PDK3):c.51G>C (p.Glu17Asp)
|
rs371137355 |
|
NM_005391.4(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822 |
|
NM_005391.4(PDK3):c.582G>A (p.Ala194=)
|
|
|
NM_005391.4(PDK3):c.597del (p.Asp199fs)
|
rs1569225940 |
|
NM_005391.4(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588 |
|
NM_005391.4(PDK3):c.751-10A>G
|
rs372774822 |
|
NM_005391.4(PDK3):c.798C>A (p.Gly266=)
|
rs1250656724 |
|
NM_005391.4(PDK3):c.811A>G (p.Lys271Glu)
|
|
|
NM_005572.3(LMNA):c.1698C>T (p.His566=)
|
rs4641 |
|
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)
|
|
|
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
|
|
|
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)
|
rs111356679 |
|
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys)
|
rs1375662436 |
|
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro)
|
rs6772054 |
|
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.1145C>T (p.Ala382Val)
|
rs138185005 |
|
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)
|
rs766049461 |
|
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg)
|
|
|
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln)
|
|
|
NM_006070.6(TFG):c.185-10T>A
|
rs79631225 |
|
NM_006070.6(TFG):c.185-10T>C
|
rs79631225 |
|
NM_006070.6(TFG):c.225C>G (p.Ser75=)
|
rs747353898 |
|
NM_006070.6(TFG):c.237G>T (p.Gln79His)
|
|
|
NM_006070.6(TFG):c.258G>T (p.Leu86=)
|
rs150620449 |
|
NM_006070.6(TFG):c.290T>A (p.Leu97His)
|
|
|
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
|
|
|
NM_006070.6(TFG):c.309A>G (p.Lys103=)
|
rs369508900 |
|
NM_006070.6(TFG):c.310T>C (p.Tyr104His)
|
|
|
NM_006070.6(TFG):c.391C>T (p.Pro131Ser)
|
rs770053266 |
|
NM_006070.6(TFG):c.415+7C>G
|
rs149927288 |
|
NM_006070.6(TFG):c.416-9T>C
|
rs115896544 |
|
NM_006070.6(TFG):c.458C>T (p.Ser153Phe)
|
|
|
NM_006070.6(TFG):c.482T>C (p.Met161Thr)
|
|
|
NM_006070.6(TFG):c.483G>A (p.Met161Ile)
|
rs750964585 |
|
NM_006070.6(TFG):c.545T>C (p.Met182Thr)
|
|
|
NM_006070.6(TFG):c.552G>A (p.Ala184=)
|
rs35648279 |
|
NM_006070.6(TFG):c.594T>G (p.Ala198=)
|
rs12562 |
|
NM_006070.6(TFG):c.663C>A (p.Gly221=)
|
rs140669729 |
|
NM_006070.6(TFG):c.672A>C (p.Pro224=)
|
rs141412018 |
|
NM_006070.6(TFG):c.68G>A (p.Arg23Gln)
|
|
|
NM_006070.6(TFG):c.716T>C (p.Ile239Thr)
|
|
|
NM_006070.6(TFG):c.722-8G>T
|
rs41272979 |
|
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys)
|
rs1559723912 |
|
NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
|
|
|
NM_006070.6(TFG):c.754G>A (p.Gly252Ser)
|
|
|
NM_006070.6(TFG):c.792G>T (p.Gln264His)
|
|
|
NM_006070.6(TFG):c.806G>T (p.Gly269Val)
|
rs587777789 |
|
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.854C>T (p.Pro285Leu)
|
rs207482230 |
|
NM_006070.6(TFG):c.882A>C (p.Gln294His)
|
|
|
NM_006070.6(TFG):c.898C>T (p.Pro300Ser)
|
|
|
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.945G>A (p.Pro315=)
|
rs61736338 |
|
NM_006070.6(TFG):c.980A>G (p.Gln327Arg)
|
rs1431898500 |
|
NM_006070.6(TFG):c.988A>G (p.Thr330Ala)
|
rs145835282 |
|
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys)
|
|
|
NM_006096.3(NDRG1):c.*100G>A
|
rs2233348 |
|
NM_006096.3(NDRG1):c.*1135G>A
|
rs10675 |
|
NM_006096.3(NDRG1):c.*1195G>T
|
rs561506934 |
|
NM_006096.3(NDRG1):c.*1294T>C
|
rs144034977 |
|
NM_006096.3(NDRG1):c.*1296C>T
|
rs886062711 |
|
NM_006096.3(NDRG1):c.*1340G>A
|
rs12668 |
|
NM_006096.3(NDRG1):c.*1473G>A
|
rs187466317 |
|
NM_006096.3(NDRG1):c.*1622T>G
|
rs7825439 |
|
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.*264C>G
|
rs73711834 |
|
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.*653T>C
|
rs147301529 |
|
NM_006096.3(NDRG1):c.*677C>T
|
rs886062712 |
|
NM_006096.3(NDRG1):c.*691G>A
|
rs1049694 |
|
NM_006096.3(NDRG1):c.*69C>T
|
rs114738844 |
|
NM_006096.3(NDRG1):c.*711C>T
|
rs16904866 |
|
NM_006096.3(NDRG1):c.*834T>A
|
rs79281324 |
|
NM_006096.3(NDRG1):c.*866A>T
|
rs16904865 |
|
NM_006096.3(NDRG1):c.*956T>C
|
rs1049697 |
|
NM_006096.3(NDRG1):c.-120C>T
|
rs11575971 |
|
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.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)
|
|
|
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp)
|
|
|
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter)
|
rs765621411 |
|
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2])
|
|
|
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr)
|
rs745832151 |
|
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4])
|
rs1554747463 |
|
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058 |
|
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=)
|
rs1189614460 |
|
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989 |
|
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu)
|
|
|
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=)
|
|
|
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=)
|
rs863224413 |
|
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr)
|
|
|
NM_006096.3(NDRG1):c.122A>G (p.His41Arg)
|
rs2233318 |
|
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg)
|
|
|
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp)
|
|
|
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln)
|
|
|
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667 |
|
NM_006096.3(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319 |
|
NM_006096.3(NDRG1):c.205+1G>A
|
rs1060503092 |
|
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn)
|
rs1554591949 |
|
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly)
|
|
|
NM_006096.3(NDRG1):c.303C>T (p.Asp101=)
|
rs765528167 |
|
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822 |
|
NM_006096.3(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322 |
|
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr)
|
|
|
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro)
|
rs374160497 |
|
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp)
|
rs1346600957 |
|
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479 |
|
NM_006096.3(NDRG1):c.326+1G>A
|
|
|
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328 |
|
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile)
|
rs1345503929 |
|
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999 |
|
NM_006096.3(NDRG1):c.389+8C>T
|
rs375532877 |
|
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg)
|
rs863224745 |
|
NM_006096.3(NDRG1):c.426C>T (p.Gly142=)
|
|
|
NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085 |
|
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro)
|
|
|
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val)
|
rs963190299 |
|
NM_006096.3(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331 |
|
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg)
|
|
|
NM_006096.3(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702 |
|
NM_006096.3(NDRG1):c.538-1G>A
|
rs11575976 |
|
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu)
|
|
|
NM_006096.3(NDRG1):c.571G>A (p.Val191Met)
|
|
|
NM_006096.3(NDRG1):c.582C>G (p.His194Gln)
|
|
|
NM_006096.3(NDRG1):c.594+8G>T
|
rs767524421 |
|
NM_006096.3(NDRG1):c.595-6A>G
|
rs1554749794 |
|
NM_006096.3(NDRG1):c.613G>A (p.Val205Met)
|
rs138839833 |
|
NM_006096.3(NDRG1):c.63+6T>C
|
rs199597649 |
|
NM_006096.3(NDRG1):c.64-6T>C
|
rs2272653 |
|
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys)
|
|
|
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys)
|
rs143549909 |
|
NM_006096.3(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752 |
|
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009 |
|
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172 |
|
NM_006096.3(NDRG1):c.69C>A (p.Ile23=)
|
rs369862936 |
|
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys)
|
rs772268356 |
|
NM_006096.3(NDRG1):c.704G>A (p.Arg235His)
|
rs748331213 |
|
NM_006096.3(NDRG1):c.755+10T>C
|
rs2233336 |
|
NM_006096.3(NDRG1):c.755+9C>T
|
rs756756059 |
|
NM_006096.3(NDRG1):c.756-5C>T
|
rs2227262 |
|
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala)
|
|
|
NM_006096.3(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062 |
|
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly)
|
rs1287073036 |
|
NM_006096.3(NDRG1):c.813G>A (p.Glu271=)
|
rs368468160 |
|
NM_006096.3(NDRG1):c.855+14_855+15del
|
rs780070007 |
|
NM_006096.3(NDRG1):c.861G>A (p.Ala287=)
|
rs150101908 |
|
NM_006096.3(NDRG1):c.879G>A (p.Pro293=)
|
rs2233340 |
|
NM_006096.3(NDRG1):c.891+5G>A
|
rs150968034 |
|
NM_006096.3(NDRG1):c.892-5C>T
|
rs2233346 |
|
NM_006096.3(NDRG1):c.892-9C>G
|
rs987790520 |
|
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu)
|
rs753836263 |
|
NM_006096.3(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370 |
|
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr)
|
rs373637595 |
|
NM_006096.3(NDRG1):c.93T>C (p.Asp31=)
|
rs773317729 |
|
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu)
|
|
|
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn)
|
rs1564277421 |
|
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys)
|
rs368404338 |
|
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746 |
|
NM_006096.3(NDRG1):c.980G>A (p.Arg327His)
|
rs565705964 |
|
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro)
|
rs281865140 |
|
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val)
|
rs551896980 |
|
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr)
|
|
|
NM_006158.4(NEFL):c.1026C>G (p.Ala342=)
|
rs35596950 |
|
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met)
|
|
|
NM_006158.4(NEFL):c.1044+5G>C
|
|
|
NM_006158.4(NEFL):c.1044G>A (p.Gln348=)
|
|
|
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys)
|
rs1060503693 |
|
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter)
|
rs757417962 |
|
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val)
|
rs1563251398 |
|
NM_006158.4(NEFL):c.1175T>A (p.Leu392His)
|
rs1554497393 |
|
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe)
|
rs879253927 |
|
NM_006158.4(NEFL):c.1185C>T (p.Gly395=)
|
rs751512030 |
|
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys)
|
rs62636503 |
|
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln)
|
|
|
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413 |
|
NM_006158.4(NEFL):c.1213G>A (p.Val405Met)
|
|
|
NM_006158.4(NEFL):c.1261C>A (p.Arg421=)
|
rs191346286 |
|
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter)
|
rs191346286 |
|
NM_006158.4(NEFL):c.1275C>T (p.Gly425=)
|
rs114329068 |
|
NM_006158.4(NEFL):c.1287C>T (p.Thr429=)
|
rs1554497362 |
|
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys)
|
|
|
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile)
|
|
|
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882 |
|
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del)
|
rs1554497354 |
|
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785 |
|
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly)
|
rs1563251190 |
|
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala)
|
rs1045761358 |
|
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321 |
|
NM_006158.4(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297 |
|
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys)
|
rs749163947 |
|
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
|
|
|
NM_006158.4(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486 |
|
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys)
|
rs773570365 |
|
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr)
|
rs1060503694 |
|
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys)
|
|
|
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys)
|
|
|
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg)
|
|
|
NM_006158.4(NEFL):c.1560C>A (p.Thr520=)
|
rs267607677 |
|
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del)
|
rs3832558 |
|
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179 |
|
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys)
|
rs57848467 |
|
NM_006158.4(NEFL):c.207G>A (p.Glu69=)
|
rs367732440 |
|
NM_006158.4(NEFL):c.217C>G (p.Leu73Val)
|
rs755889503 |
|
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919 |
|
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr)
|
rs886043551 |
|
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser)
|
|
|
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg)
|
rs60261494 |
|
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953 |
|
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys)
|
rs761847300 |
|
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp)
|
rs767370918 |
|
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro)
|
rs62636505 |
|
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile)
|
|
|
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe)
|
rs587777888 |
|
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919 |
|
NM_006158.4(NEFL):c.321C>G (p.Arg107=)
|
rs1198042093 |
|
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641 |
|
NM_006158.4(NEFL):c.352C>T (p.Leu118=)
|
rs1254381816 |
|
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
|
|
|
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys)
|
|
|
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter)
|
rs121913663 |
|
NM_006158.4(NEFL):c.423G>A (p.Gln141=)
|
rs59161567 |
|
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
|
|
|
NM_006158.4(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996 |
|
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter)
|
rs876661155 |
|
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs)
|
rs58640772 |
|
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly)
|
|
|
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu)
|
rs1450236716 |
|
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn)
|
|
|
NM_006158.4(NEFL):c.579G>A (p.Met193Ile)
|
rs367943135 |
|
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp)
|
rs532240912 |
|
NM_006158.4(NEFL):c.584C>T (p.Ala195Val)
|
rs185200977 |
|
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys)
|
|
|
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala)
|
rs1554497605 |
|
NM_006158.4(NEFL):c.598G>C (p.Asp200His)
|
|
|
NM_006158.4(NEFL):c.608C>T (p.Ala203Val)
|
|
|
NM_006158.4(NEFL):c.621C>G (p.Ala207=)
|
rs763294014 |
|
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter)
|
rs199422214 |
|
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
|
|
|
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522 |
|
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910 |
|
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910 |
|
NM_006158.4(NEFL):c.65C>A (p.Pro22His)
|
rs267607538 |
|
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538 |
|
NM_006158.4(NEFL):c.667C>T (p.Leu223=)
|
rs60156239 |
|
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro)
|
rs1563251953 |
|
NM_006158.4(NEFL):c.677T>C (p.Val226Ala)
|
|
|
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly)
|
|
|
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys)
|
rs758201328 |
|
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg)
|
rs1170226456 |
|
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
|
|
|
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu)
|
|
|
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro)
|
rs1554497578 |
|
NM_006158.4(NEFL):c.780C>T (p.Asp260=)
|
rs878854817 |
|
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=)
|
rs1060504999 |
|
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp)
|
rs1554497573 |
|
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys)
|
rs1411999109 |
|
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly)
|
rs1367433683 |
|
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser)
|
|
|
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg)
|
rs756114856 |
|
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter)
|
|
|
NM_006158.4(NEFL):c.855C>T (p.Thr285=)
|
rs1065083 |
|
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys)
|
rs946938553 |
|
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro)
|
rs864622499 |
|
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu)
|
rs768190580 |
|
NM_006158.4(NEFL):c.984G>T (p.Ala328=)
|
rs759524661 |
|
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro)
|
rs876661290 |
|
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
|
|
|
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro)
|
rs59443585 |
|
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073 |
|
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)
|
rs121434302 |
|
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526 |
|
NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp)
|
rs372650987 |
|
NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs)
|
|
|
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)
|
rs121434303 |
|
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu)
|
rs121434299 |
|
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)
|
rs121434300 |
|
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)
|
rs121434301 |
|
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844 |
|
NM_006329.3(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479 |
|
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)
|
rs28939072 |
|
NM_006400.4(DCTN2):c.337C>T (p.His113Tyr)
|
rs863223327 |
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084 |
|
NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg)
|
|
|
NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His)
|
|
|
NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly)
|
rs768841574 |
|
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)
|
rs267607087 |
|
NM_006640.4(SEPTIN9):c.812G>A (p.Arg271His)
|
rs587781247 |
|
NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter)
|
|
|
NM_006941.3(SOX10):c.797del (p.Gly266fs)
|
rs397515371 |
|
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)
|
rs864309502 |
|
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)
|
rs864309501 |
|
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu)
|
rs771827550 |
|
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
|
|
|
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
|
|
|
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys)
|
rs1265247622 |
|
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val)
|
|
|
NM_014365.2(HSPB8):c.201C>T (p.Gly67=)
|
rs1565927038 |
|
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser)
|
|
|
NM_014365.2(HSPB8):c.210C>T (p.Pro70=)
|
rs1211866770 |
|
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713 |
|
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys)
|
|
|
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln)
|
rs35909818 |
|
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818 |
|
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu)
|
|
|
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser)
|
rs146000958 |
|
NM_014365.2(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028 |
|
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
|
|
|
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu)
|
rs104894351 |
|
NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr)
|
|
|
NM_014365.2(HSPB8):c.422A>T (p.Lys141Met)
|
rs1565929090 |
|
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn)
|
rs104894345 |
|
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn)
|
rs104894345 |
|
NM_014365.2(HSPB8):c.432-10T>A
|
rs368810689 |
|
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg)
|
rs1565930539 |
|
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe)
|
|
|
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935 |
|
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr)
|
|
|
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356 |
|
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala)
|
rs878854979 |
|
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
|
|
|
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454 |
|
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly)
|
rs863224767 |
|
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
|
|
|
NM_014365.2(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602 |
|
NM_014365.2(HSPB8):c.553G>A (p.Glu185Lys)
|
rs774648716 |
|
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
|
|
|
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser)
|
rs771995241 |
|
NM_014365.2(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742 |
|
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
|
|
|
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
|
|
|
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu)
|
rs952834680 |
|
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr)
|
rs587777712 |
|
NM_014629.4(ARHGEF10):c.1075+13A>G
|
rs4543586 |
|
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe)
|
rs9657362 |
|
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter)
|
rs1467438651 |
|
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=)
|
rs4875950 |
|
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys)
|
rs1437730951 |
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224 |
|
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile)
|
rs2294039 |
|
NM_014629.4(ARHGEF10):c.2143+13T>G
|
rs2294041 |
|
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758 |
|
NM_014629.4(ARHGEF10):c.2259+8T>C
|
rs1015159398 |
|
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile)
|
rs61752020 |
|
NM_014629.4(ARHGEF10):c.3398-16A>G
|
rs7832438 |
|
NM_014629.4(ARHGEF10):c.38-10T>C
|
rs138713415 |
|
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=)
|
rs749822 |
|
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs)
|
rs1563343679 |
|
NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His)
|
|
|
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=)
|
rs7003969 |
|
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile)
|
rs28940281 |
|
NM_014845.5(FIG4):c.*120C>T
|
rs1127775 |
|
NM_014845.5(FIG4):c.*14C>T
|
rs114136062 |
|
NM_014845.5(FIG4):c.*150_*151del
|
rs886060986 |
|
NM_014845.5(FIG4):c.*29G>A
|
rs10659 |
|
NM_014845.5(FIG4):c.*7C>T
|
rs113946190 |
|
NM_014845.5(FIG4):c.-112G>A
|
rs757848529 |
|
NM_014845.5(FIG4):c.-120C>T
|
rs75045314 |
|
NM_014845.5(FIG4):c.-121G>A
|
rs75509752 |
|
NM_014845.5(FIG4):c.-124A>G
|
rs544958043 |
|
NM_014845.5(FIG4):c.-132A>G
|
rs548471516 |
|
NM_014845.5(FIG4):c.-134C>G
|
rs560811735 |
|
NM_014845.5(FIG4):c.-138T>C
|
rs550585093 |
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083 |
|
NM_014845.5(FIG4):c.-84A>G
|
rs764845399 |
|
NM_014845.5(FIG4):c.101C>T (p.Thr34Met)
|
rs375691683 |
|
NM_014845.5(FIG4):c.1040-4T>C
|
rs374343214 |
|
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631 |
|
NM_014845.5(FIG4):c.1064A>G (p.His355Arg)
|
rs772356514 |
|
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837 |
|
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871 |
|
NM_014845.5(FIG4):c.110G>A (p.Arg37His)
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NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter)
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rs377357931 |
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NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
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NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
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NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly)
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NM_014845.5(FIG4):c.1187C>T (p.Ala396Val)
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NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)
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NM_014845.5(FIG4):c.1205del (p.Asn402fs)
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rs1554303800 |
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NM_014845.5(FIG4):c.120G>T (p.Lys40Asn)
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rs1346518731 |
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NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)
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rs121908287 |
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NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
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rs1554303811 |
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NM_014845.5(FIG4):c.1242T>C (p.Ile414=)
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rs61729087 |
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NM_014845.5(FIG4):c.1271+5A>G
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NM_014845.5(FIG4):c.1272-10C>G
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rs201293291 |
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NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
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NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu)
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rs1353768172 |
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NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys)
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rs201072058 |
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NM_014845.5(FIG4):c.1350C>G (p.Arg450=)
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rs763035100 |
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NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly)
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NM_014845.5(FIG4):c.1373dup (p.Leu458fs)
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rs770043095 |
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NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp)
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NM_014845.5(FIG4):c.137C>G (p.Pro46Arg)
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rs1562642404 |
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NM_014845.5(FIG4):c.1427G>A (p.Arg476His)
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rs192823053 |
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NM_014845.5(FIG4):c.1435-8C>T
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rs754607430 |
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NM_014845.5(FIG4):c.14C>T (p.Ala5Val)
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rs915749340 |
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NM_014845.5(FIG4):c.1525C>T (p.Leu509=)
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rs146488614 |
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NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr)
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rs370249754 |
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NM_014845.5(FIG4):c.155T>C (p.Ile52Thr)
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NM_014845.5(FIG4):c.1584-8T>A
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rs199522051 |
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NM_014845.5(FIG4):c.1666dup (p.Thr556fs)
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rs772320287 |
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NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter)
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NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys)
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rs145337669 |
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NM_014845.5(FIG4):c.1740T>C (p.Asn580=)
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rs1554304608 |
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NM_014845.5(FIG4):c.1750+3A>G
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NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu)
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rs1060501402 |
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NM_014845.5(FIG4):c.1755C>T (p.Ala585=)
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rs377111248 |
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NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr)
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rs751399063 |
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NM_014845.5(FIG4):c.1863C>A (p.Thr621=)
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rs201744761 |
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NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
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NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala)
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rs762859144 |
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NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
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NM_014845.5(FIG4):c.1923G>A (p.Lys641=)
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rs140078026 |
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NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)
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NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys)
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rs150301327 |
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NM_014845.5(FIG4):c.1948+3A>G
|
rs10499054 |
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NM_014845.5(FIG4):c.1961T>C (p.Val654Ala)
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rs9885672 |
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NM_014845.5(FIG4):c.1986dup (p.Lys663fs)
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NM_014845.5(FIG4):c.2011A>G (p.Ile671Val)
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rs1554307877 |
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NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln)
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NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
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NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)
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NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser)
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NM_014845.5(FIG4):c.2080A>G (p.Met694Val)
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rs143531641 |
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NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys)
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rs764799053 |
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NM_014845.5(FIG4):c.2096G>A (p.Arg699His)
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rs750091928 |
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NM_014845.5(FIG4):c.2097-10C>G
|
rs142482745 |
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NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr)
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rs1554308483 |
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NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala)
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rs766031746 |
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NM_014845.5(FIG4):c.2115C>T (p.Thr705=)
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rs201271644 |
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NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys)
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rs139235893 |
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NM_014845.5(FIG4):c.2154A>G (p.Pro718=)
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rs201138266 |
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NM_014845.5(FIG4):c.2181-10C>A
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NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser)
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rs1467094847 |
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NM_014845.5(FIG4):c.2199A>G (p.Glu733=)
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rs537464083 |
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NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys)
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rs372846619 |
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NM_014845.5(FIG4):c.2223G>T (p.Thr741=)
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rs181012139 |
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NM_014845.5(FIG4):c.2241G>C (p.Pro747=)
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rs148589135 |
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NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs)
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rs750712213 |
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NM_014845.5(FIG4):c.2289G>A (p.Gly763=)
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rs756539176 |
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NM_014845.5(FIG4):c.2299dup (p.Glu767fs)
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