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_000001.11:g.(?_32775971)_(32797853_?)dup
|
|
NC_000001.11:g.(?_32810581)_(32811067_?)del
|
|
NC_000001.11:g.(?_32810591)_(32811057_?)del
|
|
NC_000001.11:g.(?_6467553)_(6477668_?)del
|
|
NC_000001.11:g.(?_6474003)_(6477668_?)del
|
|
NC_000001.11:g.11980166G>A
|
|
NC_000003.11:g.(?_128514201)_(128631967_?)dup
|
|
NC_000003.11:g.(?_179118981)_(179144008_?)dup
|
|
NC_000003.12:g.(?_128795358)_(128813432_?)dup
|
|
NC_000003.12:g.(?_179401203)_(179426210_?)dup
|
|
NC_000004.12:g.(?_153204511)_(153276150_?)del
|
|
NC_000005.10:g.(?_110743720)_(110743797_?)del
|
|
NC_000005.10:g.(?_131159273)_(131165358_?)del
|
|
NC_000005.10:g.(?_131159427)_(131165225_?)del
|
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
NC_000005.10:g.(?_149062971)_(149063174_?)del
|
|
NC_000005.10:g.149063099G>A
|
|
NC_000005.9:g.(?_110077728)_(110083984_?)dup
|
|
NC_000005.9:g.(?_130494966)_(130501051_?)dup
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
NC_000006.12:g.(?_109825078)_(109825275_?)del
|
|
NC_000006.12:g.109691284C>A
|
|
NC_000007.13:g.(?_75931813)_(75933510_?)dup
|
|
NC_000007.14:g.(?_76301442)_(76304183_?)dup
|
|
NC_000007.14:g.(?_76303782)_(76304193_?)del
|
|
NC_000007.14:g.(?_76303789)_(76304183_?)del
|
|
NC_000007.14:g.(?_76303802)_(76304173_?)del
|
|
NC_000007.14:g.30594642G>A
|
|
NC_000007.14:g.30594727A>T
|
|
NC_000007.14:g.76302657C>T
|
|
NC_000008.10:g.(?_133141489)_(134296574_?)dup
|
|
NC_000008.10:g.(?_24810303)_(24814049_?)dup
|
|
NC_000008.10:g.(?_24810313)_(24814039_?)dup
|
|
NC_000008.10:g.(?_74888497)_(75274233_?)dup
|
|
NC_000008.11:g.(?_133236171)_(133298304_?)dup
|
|
NC_000008.11:g.(?_74349383)_(74368110_?)dup
|
|
NC_000008.11:g.133297281T>G
|
|
NC_000008.11:g.24956698G>C
|
|
NC_000008.11:g.24956763G>C
|
|
NC_000008.11:g.24956773G>C
|
|
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
|
|
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
|
|
NC_000009.12:g.(?_127454518)_(127502909_?)dup
|
|
NC_000009.12:g.(?_127461163)_(127473941_?)del
|
|
NC_000009.12:g.(?_127501000)_(127501153_?)del
|
|
NC_000009.12:g.(?_127502764)_(127502909_?)del
|
|
NC_000009.12:g.(?_127502774)_(127503501_?)del
|
|
NC_000011.10:g.(?_10028442)_(10193997_?)del
|
|
NC_000011.10:g.(?_10193902)_(10193987_?)del
|
|
NC_000011.10:g.(?_10294005)_(10294079_?)dup
|
|
NC_000011.10:g.(?_68908125)_(68908651_?)del
|
|
NC_000011.10:g.(?_9780408)_(10042991_?)del
|
|
NC_000011.10:g.(?_9807990)_(9858406_?)del
|
|
NC_000012.11:g.(?_32786463)_(32832419_?)dup
|
|
NC_000012.12:g.(?_32576256)_(32640543_?)del
|
|
NC_000012.12:g.(?_32576352)_(32619876_?)del
|
|
NC_000012.12:g.(?_32598477)_(32598606_?)del
|
|
NC_000012.12:g.(?_32633539)_(32640543_?)dup
|
|
NC_000012.12:g.109833410C>A
|
|
NC_000012.12:g.119178791C>G
|
|
NC_000012.12:g.119178894A>T
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
NC_000014.9:g.(?_101925141)_(101964947_?)del
|
|
NC_000014.9:g.(?_102026564)_(102050573_?)dup
|
|
NC_000014.9:g.(?_104701356)_(104703963_?)del
|
|
NC_000014.9:g.101964570C>T
|
|
NC_000016.10:g.(?_11549637)_(11556730_?)dup
|
|
NC_000016.9:g.(?_11643473)_(11650606_?)dup
|
|
NC_000017.11:g.15133096_15164093dup
|
|
NC_000019.10:g.(?_10718233)_(10759821_?)dup
|
|
NC_000019.10:g.(?_10718233)_(10786716_?)dup
|
|
NC_000019.10:g.(?_10819960)_(10823919_?)dup
|
|
NC_000019.10:g.(?_10819970)_(10823909_?)dup
|
|
NC_000019.10:g.(?_10819970)_(10831057_?)dup
|
|
NC_000019.10:g.(?_40403686)_(40403882_?)del
|
|
NC_000019.10:g.(?_40403696)_(40403872_?)del
|
|
NC_000019.9:g.(?_10828899)_(10870507_?)dup
|
|
NC_000019.9:g.(?_10828899)_(10897402_?)dup
|
|
NC_000019.9:g.(?_40899863)_(40913849_?)dup
|
|
NC_000023.10:g.(?_24483553)_(24557301_?)dup
|
|
NC_000023.11:g.(?_24465436)_(24465581_?)del
|
|
NC_000023.11:g.(?_24494722)_(24539184_?)del
|
|
NC_012920.1:m.9185T>C
|
rs199476138 |
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
NG_051334.1:g.(?_5985)_(28647_?)del
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673 |
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672 |
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959 |
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034 |
NM_000166.6(GJB1):c.*117C>T
|
rs41307256 |
NM_000166.6(GJB1):c.*163G>T
|
rs139775308 |
NM_000166.6(GJB1):c.*18C>G
|
|
NM_000166.6(GJB1):c.*22C>T
|
|
NM_000166.6(GJB1):c.*277A>G
|
|
NM_000166.6(GJB1):c.*309G>A
|
|
NM_000166.6(GJB1):c.*34C>A
|
rs113014279 |
NM_000166.6(GJB1):c.*402G>A
|
|
NM_000166.6(GJB1):c.*443G>A
|
|
NM_000166.6(GJB1):c.*50G>C
|
|
NM_000166.6(GJB1):c.-102G>A
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971 |
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983 |
NM_000166.6(GJB1):c.-16-2A>G
|
rs751230398 |
NM_000166.6(GJB1):c.-16-3C>G
|
rs1602348508 |
NM_000166.6(GJB1):c.-17G>A
|
rs879254047 |
NM_000166.6(GJB1):c.-6G>A
|
rs201344743 |
NM_000166.6(GJB1):c.100A>G (p.Met34Val)
|
rs1569215061 |
NM_000166.6(GJB1):c.101T>A (p.Met34Lys)
|
rs1060500998 |
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
|
rs1060500998 |
NM_000166.6(GJB1):c.103G>A (p.Val35Met)
|
rs1602348735 |
NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)
|
rs1602348737 |
NM_000166.6(GJB1):c.109G>A (p.Val37Met)
|
rs1057518946 |
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946 |
NM_000166.6(GJB1):c.110del (p.Val37fs)
|
rs1602348754 |
NM_000166.6(GJB1):c.112G>A (p.Val38Met)
|
rs879254012 |
NM_000166.6(GJB1):c.113T>C (p.Val38Ala)
|
rs863224612 |
NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)
|
rs1602348767 |
NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)
|
rs1602348769 |
NM_000166.6(GJB1):c.115del (p.Ala39fs)
|
rs1602348763 |
NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)
|
rs786204095 |
NM_000166.6(GJB1):c.116C>T (p.Ala39Val)
|
rs786204095 |
NM_000166.6(GJB1):c.116del (p.Ala39fs)
|
rs1602348779 |
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
rs1602348782 |
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)
|
rs1602348782 |
NM_000166.6(GJB1):c.119C>T (p.Ala40Val)
|
rs1602348786 |
NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)
|
rs1602348548 |
NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs)
|
rs1602348794 |
NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)
|
rs1602348796 |
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816 |
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
|
rs1602348801 |
NM_000166.6(GJB1):c.127G>A (p.Val43Met)
|
rs1602348804 |
NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)
|
rs1555937063 |
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)
|
rs879253935 |
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)
|
rs879253935 |
NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)
|
rs1602348820 |
NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)
|
rs1602348552 |
NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)
|
rs1602348828 |
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)
|
rs1602348833 |
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817 |
NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)
|
rs1602348838 |
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)
|
rs913934445 |
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)
|
rs1064793139 |
NM_000166.6(GJB1):c.155del (p.Ile52fs)
|
rs1602348856 |
NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)
|
rs1602348863 |
NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)
|
rs1602348864 |
NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)
|
rs1602348864 |
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)
|
rs863224613 |
NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)
|
rs104894824 |
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824 |
NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)
|
rs1602348872 |
NM_000166.6(GJB1):c.171G>C (p.Gln57His)
|
rs1602348875 |
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)
|
rs483352926 |
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)
|
rs1602348876 |
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)
|
rs1555937077 |
NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)
|
rs1555937077 |
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)
|
rs1555937082 |
NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)
|
rs1555937082 |
NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)
|
rs1602348895 |
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818 |
NM_000166.6(GJB1):c.187G>T (p.Val63Phe)
|
rs116840818 |
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)
|
rs1602348897 |
NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)
|
rs1602348897 |
NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)
|
rs1602348897 |
NM_000166.6(GJB1):c.193T>C (p.Tyr65His)
|
rs1602348902 |
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)
|
rs104894819 |
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)
|
rs1602348907 |
NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)
|
rs1602348911 |
NM_000166.6(GJB1):c.196_198del (p.Asp66del)
|
rs1602348913 |
NM_000166.6(GJB1):c.1A>T (p.Met1Leu)
|
rs1602348517 |
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)
|
rs1602348917 |
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)
|
rs878853697 |
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)
|
rs878853697 |
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)
|
rs1602348930 |
NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)
|
rs1602348554 |
NM_000166.6(GJB1):c.210dup (p.Ile71fs)
|
rs1602348918 |
NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)
|
rs1602348932 |
NM_000166.6(GJB1):c.217del (p.His73fs)
|
rs1602348937 |
NM_000166.6(GJB1):c.220G>A (p.Val74Met)
|
rs772377652 |
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819 |
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)
|
rs863224972 |
NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)
|
rs863224972 |
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820 |
NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)
|
rs1602348960 |
NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)
|
rs1602348557 |
NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)
|
rs199570177 |
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)
|
rs879254096 |
NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)
|
rs1602348971 |
NM_000166.6(GJB1):c.234C>T (p.Ser78=)
|
rs1602348974 |
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157 |
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)
|
rs1602348981 |
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)
|
rs1602348981 |
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)
|
rs879254097 |
NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)
|
rs1602348559 |
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)
|
rs876661143 |
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)
|
rs1602348995 |
NM_000166.6(GJB1):c.246C>G (p.Ile82Met)
|
rs1602348999 |
NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)
|
rs1602349004 |
NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)
|
rs1602349004 |
NM_000166.6(GJB1):c.248_257del (p.Leu83fs)
|
rs1602349000 |
NM_000166.6(GJB1):c.250G>A (p.Val84Ile)
|
rs1602349007 |
NM_000166.6(GJB1):c.251T>G (p.Val84Gly)
|
rs1602349008 |
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)
|
rs104894823 |
NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)
|
rs104894823 |
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)
|
rs1602349014 |
NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)
|
rs1602349014 |
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)
|
rs1602349017 |
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)
|
rs1602349017 |
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)
|
rs587777877 |
NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)
|
rs587777877 |
NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)
|
rs1602349021 |
NM_000166.6(GJB1):c.261A>G (p.Pro87=)
|
rs376994837 |
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)
|
rs1555937122 |
NM_000166.6(GJB1):c.268C>G (p.Leu90Val)
|
rs1299325261 |
NM_000166.6(GJB1):c.269T>A (p.Leu90His)
|
rs1602349045 |
NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)
|
rs1569214971 |
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158 |
NM_000166.6(GJB1):c.271G>C (p.Val91Leu)
|
rs756928158 |
NM_000166.6(GJB1):c.272T>G (p.Val91Gly)
|
rs1602349050 |
NM_000166.6(GJB1):c.273_274del (p.Ala92fs)
|
rs1602349061 |
NM_000166.6(GJB1):c.275_276del (p.Ala92fs)
|
rs1602349065 |
NM_000166.6(GJB1):c.277A>G (p.Met93Val)
|
rs1602349066 |
NM_000166.6(GJB1):c.277_278del (p.Met93fs)
|
rs1602349068 |
NM_000166.6(GJB1):c.278T>A (p.Met93Lys)
|
rs1602349077 |
NM_000166.6(GJB1):c.278T>G (p.Met93Arg)
|
rs1602349077 |
NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)
|
rs1602348563 |
NM_000166.6(GJB1):c.280C>G (p.His94Asp)
|
rs1602349087 |
NM_000166.6(GJB1):c.280C>T (p.His94Tyr)
|
rs1602349087 |
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095 |
NM_000166.6(GJB1):c.282C>A (p.His94Gln)
|
rs756000896 |
NM_000166.6(GJB1):c.282C>G (p.His94Gln)
|
rs756000896 |
NM_000166.6(GJB1):c.283G>A (p.Val95Met)
|
rs104894821 |
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)
|
rs1602349112 |
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)
|
rs1602349121 |
NM_000166.6(GJB1):c.298C>T (p.His100Tyr)
|
rs1602349131 |
NM_000166.6(GJB1):c.2T>G (p.Met1Arg)
|
rs1602348519 |
NM_000166.6(GJB1):c.300C>G (p.His100Gln)
|
rs1602349137 |
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)
|
rs1602349143 |
NM_000166.6(GJB1):c.304_306del (p.Glu102del)
|
rs1555937135 |
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968 |
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)
|
rs1131691322 |
NM_000166.6(GJB1):c.308dup (p.Lys104fs)
|
rs1602349159 |
NM_000166.6(GJB1):c.30C>T (p.Leu10=)
|
rs183702021 |
NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)
|
rs1602349166 |
NM_000166.6(GJB1):c.313del (p.Met105fs)
|
rs1602349163 |
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973 |
NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)
|
rs1602348569 |
NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)
|
rs1602349183 |
NM_000166.6(GJB1):c.324dup (p.Glu109Ter)
|
rs1555937143 |
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)
|
rs1555937145 |
NM_000166.6(GJB1):c.332_349del (p.His111_His116del)
|
rs1602349197 |
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)
|
rs1602349208 |
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)
|
rs1555936999 |
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)
|
rs1602349226 |
NM_000166.6(GJB1):c.358_360del (p.Val120del)
|
rs1602349233 |
NM_000166.6(GJB1):c.359T>A (p.Val120Glu)
|
rs1049663989 |
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)
|
rs1555937161 |
NM_000166.6(GJB1):c.371del (p.Lys124fs)
|
rs1602349248 |
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)
|
rs876661119 |
NM_000166.6(GJB1):c.374T>A (p.Val125Asp)
|
rs1602349254 |
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)
|
rs879253995 |
NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)
|
rs1602349257 |
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820 |
NM_000166.6(GJB1):c.37G>T (p.Val13Leu)
|
rs104894820 |
NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)
|
rs1602349258 |
NM_000166.6(GJB1):c.381C>G (p.Ile127Met)
|
rs1602349264 |
NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)
|
rs1602349268 |
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)
|
rs1602349272 |
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)
|
rs1602349272 |
NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)
|
rs1602349272 |
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
rs1602349283 |
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)
|
rs1555937166 |
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs)
|
rs1555937168 |
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)
|
rs1569215263 |
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)
|
rs1602349293 |
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)
|
rs104894813 |
NM_000166.6(GJB1):c.397del (p.Trp133fs)
|
rs1602349299 |
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)
|
rs1602349302 |
NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)
|
rs1602349302 |
NM_000166.6(GJB1):c.3G>T (p.Met1Ile)
|
rs1602348524 |
NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)
|
rs1602349309 |
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826 |
NM_000166.6(GJB1):c.410del (p.Ile137fs)
|
rs1602349316 |
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)
|
rs1602349322 |
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812 |
NM_000166.6(GJB1):c.419T>A (p.Val140Glu)
|
rs923460745 |
NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)
|
rs1569214995 |
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)
|
rs1555937180 |
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)
|
rs104894810 |
NM_000166.6(GJB1):c.424del (p.Arg142fs)
|
rs1602349328 |
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)
|
rs786204123 |
NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)
|
rs1602349336 |
NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del)
|
rs1602349339 |
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)
|
rs1602348598 |
NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)
|
rs1602349346 |
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)
|
rs1602349347 |
NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)
|
rs1602349349 |
NM_000166.6(GJB1):c.439del (p.Ala147fs)
|
rs1602349352 |
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815 |
NM_000166.6(GJB1):c.43del (p.Arg15fs)
|
rs1602348594 |
NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)
|
rs1602349361 |
NM_000166.6(GJB1):c.441C>T (p.Ala147=)
|
rs765686240 |
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)
|
rs1602349369 |
NM_000166.6(GJB1):c.445T>G (p.Phe149Val)
|
rs1602349369 |
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974 |
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)
|
rs1602348605 |
NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)
|
rs1602349378 |
NM_000166.6(GJB1):c.451T>C (p.Tyr151His)
|
rs1602349378 |
NM_000166.6(GJB1):c.454del (p.Val152fs)
|
rs1602349383 |
NM_000166.6(GJB1):c.455T>A (p.Val152Asp)
|
rs1602349388 |
NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)
|
rs1602349399 |
NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)
|
rs1602349399 |
NM_000166.6(GJB1):c.459_460del (p.Phe153fs)
|
rs1602349393 |
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
rs879254098 |
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984 |
NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)
|
rs1602349418 |
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs)
|
rs1602349420 |
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
|
|
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)
|
rs104894818 |
NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)
|
rs1602349427 |
NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)
|
rs1602349430 |
NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)
|
rs1602349430 |
NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)
|
rs1602349439 |
NM_000166.6(GJB1):c.474del (p.Gly159fs)
|
rs1602349441 |
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)
|
rs1555937194 |
NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)
|
rs1602349446 |
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)
|
rs1555937197 |
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)
|
rs1602349451 |
NM_000166.6(GJB1):c.47A>C (p.His16Pro)
|
rs1602348610 |
NM_000166.6(GJB1):c.47A>T (p.His16Leu)
|
rs1602348610 |
NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)
|
rs1602349453 |
NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)
|
rs1602349454 |
NM_000166.6(GJB1):c.484dup (p.Met162fs)
|
rs1602349460 |
NM_000166.6(GJB1):c.48T>G (p.His16Gln)
|
rs1270518681 |
NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)
|
rs139643362 |
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362 |
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912 |
NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)
|
rs1602349468 |
NM_000166.6(GJB1):c.498_502del (p.Lys167fs)
|
rs1602349473 |
NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)
|
rs1602349482 |
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
|
|
NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)
|
rs1057518780 |
NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)
|
rs1602349495 |
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326 |
NM_000166.6(GJB1):c.508G>A (p.Val170Ile)
|
rs748095370 |
NM_000166.6(GJB1):c.508G>T (p.Val170Phe)
|
rs748095370 |
NM_000166.6(GJB1):c.509T>A (p.Val170Asp)
|
rs1602349512 |
NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)
|
rs1555937009 |
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)
|
rs1555937009 |
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)
|
rs104894811 |
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811 |
NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)
|
rs1555937218 |
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)
|
rs1555937218 |
NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)
|
rs1602349527 |
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)
|
rs1602349535 |
NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)
|
rs1602349540 |
NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)
|
rs1602349545 |
NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)
|
rs1602349555 |
NM_000166.6(GJB1):c.524dup (p.Asn175fs)
|
rs1569215346 |
NM_000166.6(GJB1):c.529G>A (p.Val177Met)
|
rs1569215351 |
NM_000166.6(GJB1):c.530T>A (p.Val177Glu)
|
rs1602349572 |
NM_000166.6(GJB1):c.530T>C (p.Val177Ala)
|
rs1602349572 |
NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)
|
rs1555937223 |
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)
|
rs1555937224 |
NM_000166.6(GJB1):c.533A>T (p.Asp178Val)
|
rs1555937224 |
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)
|
rs1602349585 |
NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)
|
rs1602349591 |
NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)
|
rs1602349591 |
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822 |
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
rs1602349603 |
NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)
|
rs1602349610 |
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)
|
rs771022595 |
NM_000166.6(GJB1):c.541G>A (p.Val181Met)
|
rs879253909 |
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)
|
rs879253909 |
NM_000166.6(GJB1):c.542T>C (p.Val181Ala)
|
rs876661252 |
NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)
|
rs1602349628 |
NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)
|
rs1602349631 |
NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)
|
rs1602349631 |
NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)
|
rs863224471 |
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)
|
rs863224471 |
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233 |
NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)
|
rs1555937233 |
NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)
|
rs1602349646 |
NM_000166.6(GJB1):c.553_555del (p.Thr185del)
|
rs1602349648 |
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821 |
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)
|
rs116840821 |
NM_000166.6(GJB1):c.556dup (p.Glu186fs)
|
rs1602349655 |
NM_000166.6(GJB1):c.557A>T (p.Glu186Val)
|
rs1602349656 |
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244 |
NM_000166.6(GJB1):c.565G>A (p.Val189Ile)
|
rs770116247 |
NM_000166.6(GJB1):c.566T>G (p.Val189Gly)
|
rs1064794244 |
NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)
|
rs1555937248 |
NM_000166.6(GJB1):c.571dup (p.Thr191fs)
|
rs1602349676 |
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
|
|
NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer)
|
rs1602349684 |
NM_000166.6(GJB1):c.574G>T (p.Val192Phe)
|
rs771579861 |
NM_000166.6(GJB1):c.576del (p.Phe193fs)
|
rs1602349692 |
NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)
|
rs1602349696 |
NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)
|
rs1602349697 |
NM_000166.6(GJB1):c.580A>G (p.Met194Val)
|
rs587777878 |
NM_000166.6(GJB1):c.590C>T (p.Ala197Val)
|
rs1569215418 |
NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)
|
rs1555937259 |
NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)
|
rs1602349716 |
NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)
|
rs772529850 |
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)
|
rs1569215025 |
NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)
|
rs1569215025 |
NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)
|
rs1602349726 |
NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)
|
rs1602349726 |
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)
|
rs1602349730 |
NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)
|
rs1602349730 |
NM_000166.6(GJB1):c.606del (p.Ile203fs)
|
rs1602349746 |
NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)
|
rs1602349749 |
NM_000166.6(GJB1):c.610C>G (p.Leu204Val)
|
rs1064795540 |
NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)
|
rs1064795540 |
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822 |
NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)
|
rs104894822 |
NM_000166.6(GJB1):c.617dup (p.Ala207fs)
|
rs1602349763 |
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)
|
rs1602348633 |
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270 |
NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)
|
rs1602349768 |
NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del)
|
rs1602349772 |
NM_000166.6(GJB1):c.627G>T (p.Val209=)
|
rs376113695 |
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
|
rs1602349779 |
NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)
|
rs1602348640 |
NM_000166.6(GJB1):c.62G>T (p.Gly21Val)
|
rs1602348640 |
NM_000166.6(GJB1):c.62del (p.Gly21fs)
|
rs1602348638 |
NM_000166.6(GJB1):c.631T>C (p.Tyr211His)
|
rs1602349785 |
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)
|
rs1569215443 |
NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)
|
rs1602349796 |
NM_000166.6(GJB1):c.634del (p.Leu212fs)
|
rs1602349791 |
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984 |
NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)
|
rs1602349801 |
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)
|
rs1602349807 |
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)
|
rs879254099 |
NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)
|
rs1555937020 |
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020 |
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)
|
rs1602349821 |
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)
|
rs144381053 |
NM_000166.6(GJB1):c.656G>A (p.Arg219His)
|
rs199834862 |
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)
|
rs104894814 |
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814 |
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002 |
NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)
|
rs1060501002 |
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)
|
rs1426533412 |
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706 |
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246 |
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726 |
NM_000166.6(GJB1):c.68T>C (p.Val23Ala)
|
rs1602348650 |
NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)
|
rs1602348530 |
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825 |
NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)
|
rs1602348654 |
NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)
|
rs200774406 |
NM_000166.6(GJB1):c.713G>A (p.Arg238His)
|
rs776206757 |
NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)
|
rs1602349901 |
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
|
|
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)
|
rs1602348658 |
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)
|
rs1602348662 |
NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)
|
rs1602348665 |
NM_000166.6(GJB1):c.761dup (p.Gln255fs)
|
rs1602349920 |
NM_000166.6(GJB1):c.772del (p.Ser258fs)
|
rs1602349940 |
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)
|
rs1602349948 |
NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)
|
rs1602349951 |
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)
|
rs587777876 |
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)
|
rs587777876 |
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)
|
rs587777876 |
NM_000166.6(GJB1):c.77del (p.Ser26fs)
|
rs1602348679 |
NM_000166.6(GJB1):c.783_784del (p.Ile262fs)
|
rs1602349955 |
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
|
rs1602349962 |
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879 |
NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)
|
rs763991026 |
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)
|
rs1602349984 |
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537 |
NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)
|
rs1602348537 |
NM_000166.6(GJB1):c.800del (p.Pro267fs)
|
rs1602350003 |
NM_000166.6(GJB1):c.807C>T (p.Thr269=)
|
rs750620543 |
NM_000166.6(GJB1):c.80T>C (p.Val27Ala)
|
rs1602348686 |
NM_000166.6(GJB1):c.822del (p.Glu275fs)
|
rs1602350029 |
NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)
|
rs1602350047 |
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)
|
rs768834663 |
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)
|
rs768834663 |
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)
|
rs866253945 |
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
|
rs1602350062 |
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)
|
rs748676943 |
NM_000166.6(GJB1):c.84del (p.Phe29fs)
|
rs1602348695 |
NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)
|
rs1602348703 |
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)
|
rs104894817 |
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)
|
rs104894817 |
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)
|
rs1555936989 |
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)
|
rs1555936989 |
NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)
|
rs1602348720 |
NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)
|
rs1602348722 |
NM_000183.3(HADHB):c.210-1G>C
|
rs200777054 |
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928 |
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
|
rs771833491 |
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995 |
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305 |
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242 |
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
|
rs1469438575 |
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965 |
NM_000263.4(NAGLU):c.1159_1162AGCC[3] (p.Val390fs)
|
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122 |
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363 |
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260 |
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586 |
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036 |
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033 |
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961 |
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
|
rs202033889 |
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439 |
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453 |
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856 |
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936 |
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270 |
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596 |
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665 |
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009 |
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564 |
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028 |
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621 |
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789 |
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
|
rs752971320 |
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152 |
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577 |
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331 |
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595 |
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
|
rs61737297 |
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820 |
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730 |
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316 |
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
|
rs760741593 |
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597 |
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598 |
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598 |
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.1797C>G (p.Ala599=)
|
rs146715254 |
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.1899C>T (p.Ala633=)
|
rs767268083 |
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053 |
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594 |
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593 |
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038 |
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037 |
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.2020C>T (p.Arg674Cys)
|
rs763299645 |
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590 |
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla)
|
rs1469781984 |
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217 |
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566 |
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478 |
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245 |
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267 |
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
|
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
|
rs866267579 |
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042 |
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
|
rs1436378685 |
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968 |
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711 |
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553 |
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr)
|
rs61737294 |
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386 |
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
|
rs1312488945 |
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897 |
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192 |
NM_000263.4(NAGLU):c.531+1G>A
|
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666 |
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529 |
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792 |
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601 |
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073 |
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
|
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
|
rs770221835 |
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842 |
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
|
NM_000263.4(NAGLU):c.764+10C>T
|
rs372400832 |
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
|
rs1411789843 |
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480 |
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
|
rs146734024 |
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592 |
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
|
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
|
rs1599258507 |
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189 |
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.*174G>A
|
|
NM_000304.4(PMP22):c.*200T>G
|
|
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.*376C>T
|
|
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.*544C>T
|
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538 |
NM_000304.4(PMP22):c.*596G>T
|
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422 |
NM_000304.4(PMP22):c.*63A>C
|
|
NM_000304.4(PMP22):c.*818T>C
|
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027 |
NM_000304.4(PMP22):c.*83del
|
rs1222938795 |
NM_000304.4(PMP22):c.*890C>T
|
|
NM_000304.4(PMP22):c.*894C>T
|
|
NM_000304.4(PMP22):c.*907C>A
|
|
NM_000304.4(PMP22):c.*911C>T
|
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440 |
NM_000304.4(PMP22):c.*961C>G
|
|
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.-86A>C
|
|
NM_000304.4(PMP22):c.116G>A (p.Trp39Ter)
|
rs1597632998 |
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846 |
NM_000304.4(PMP22):c.11del (p.Leu4fs)
|
rs1597635843 |
NM_000304.4(PMP22):c.130_131del (p.Thr44fs)
|
rs1597632943 |
NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs)
|
rs1597632913 |
NM_000304.4(PMP22):c.138del (p.Ser47fs)
|
rs864622180 |
NM_000304.4(PMP22):c.152A>G (p.His51Arg)
|
rs368908933 |
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
|
|
NM_000304.4(PMP22):c.174_178+7del
|
rs1597632803 |
NM_000304.4(PMP22):c.178+1G>C
|
rs1597632815 |
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521 |
NM_000304.4(PMP22):c.179-13C>G
|
|
NM_000304.4(PMP22):c.179-17G>A
|
|
NM_000304.4(PMP22):c.179-1G>A
|
rs1597608220 |
NM_000304.4(PMP22):c.179-1G>C
|
rs1597608220 |
NM_000304.4(PMP22):c.179-2A>G
|
rs1597608225 |
NM_000304.4(PMP22):c.183G>A (p.Trp61Ter)
|
rs1597608203 |
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682 |
NM_000304.4(PMP22):c.193G>T (p.Val65Phe)
|
rs1597608152 |
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
|
|
NM_000304.4(PMP22):c.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)
|
rs104894620 |
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)
|
rs940401899 |
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)
|
rs1597608086 |
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)
|
rs104894621 |
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)
|
rs1597608049 |
NM_000304.4(PMP22):c.227del (p.Ser76fs)
|
rs1597608057 |
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)
|
rs1555565276 |
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)
|
rs863225027 |
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)
|
rs863225027 |
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)
|
rs104894618 |
NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1])
|
|
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)
|
rs1597607967 |
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)
|
rs1597607967 |
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)
|
rs1597607920 |
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
|
|
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
|
rs11545341 |
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
|
NM_000304.4(PMP22):c.277G>C (p.Gly93Arg)
|
rs778693173 |
NM_000304.4(PMP22):c.281del (p.Gly94fs)
|
rs80338763 |
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763 |
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys)
|
rs1555565234 |
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713 |
NM_000304.4(PMP22):c.297del (p.Gly100fs)
|
rs1597607665 |
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)
|
rs1597607651 |
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)
|
rs1597607638 |
NM_000304.4(PMP22):c.299G>T (p.Gly100Val)
|
rs1597607638 |
NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)
|
rs1567704621 |
NM_000304.4(PMP22):c.312del (p.Ala106fs)
|
rs1597607585 |
NM_000304.4(PMP22):c.314T>G (p.Leu105Arg)
|
rs1597607558 |
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp)
|
rs1597607537 |
NM_000304.4(PMP22):c.318del (p.Gly107fs)
|
rs1597607532 |
NM_000304.4(PMP22):c.319+16T>G
|
rs751416357 |
NM_000304.4(PMP22):c.319+1G>A
|
rs1597607514 |
NM_000304.4(PMP22):c.320-1G>C
|
rs1597597908 |
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465 |
NM_000304.4(PMP22):c.320G>T (p.Gly107Val)
|
rs1597597900 |
NM_000304.4(PMP22):c.325T>C (p.Cys109Arg)
|
rs1597597876 |
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter)
|
rs863225028 |
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
rs759808649 |
NM_000304.4(PMP22):c.336T>G (p.Ser112Arg)
|
rs1597597821 |
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
|
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)
|
rs786205111 |
NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs)
|
rs1597597781 |
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985 |
NM_000304.4(PMP22):c.364_365del (p.Pro122fs)
|
rs1597597725 |
NM_000304.4(PMP22):c.366G>A (p.Pro122=)
|
rs372723732 |
NM_000304.4(PMP22):c.367del (p.Glu123fs)
|
rs1597597710 |
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622 |
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter)
|
rs1597597683 |
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter)
|
rs1597597678 |
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)
|
rs1597597627 |
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
|
|
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
|
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419 |
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
|
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)
|
rs1555564040 |
NM_000304.4(PMP22):c.419G>A (p.Trp140Ter)
|
rs1597597534 |
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter)
|
rs1597597527 |
NM_000304.4(PMP22):c.433del (p.Leu145fs)
|
rs1567698872 |
NM_000304.4(PMP22):c.434del (p.Leu145fs)
|
rs863225029 |
NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)
|
rs1597597445 |
NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs)
|
rs1597597443 |
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)
|
rs775019409 |
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)
|
rs879253954 |
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
|
rs879253954 |
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
|
|
NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)
|
rs28936682 |
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682 |
NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)
|
rs749165928 |
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)
|
rs773478255 |
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
|
|
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)
|
rs1597635677 |
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)
|
rs1597635666 |
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.74T>G (p.Val25Gly)
|
|
NM_000304.4(PMP22):c.75_78+2del
|
rs1597635535 |
NM_000304.4(PMP22):c.76del (p.Ser26fs)
|
rs1597635540 |
NM_000304.4(PMP22):c.78+1G>T
|
rs1426969421 |
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528 |
NM_000304.4(PMP22):c.78+5G>A
|
rs1174594975 |
NM_000304.4(PMP22):c.79-2A>G
|
rs1597633171 |
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989 |
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626 |
NM_000304.4(PMP22):c.84G>T (p.Trp28Cys)
|
rs1442525908 |
NM_000304.4(PMP22):c.87C>T (p.Ile29=)
|
rs201192820 |
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
rs377335295 |
NM_000371.3(TTR):c.*3_*11del
|
rs143948820 |
NM_000371.3(TTR):c.148G>C (p.Val50Leu)
|
rs28933979 |
NM_000371.3(TTR):c.280G>C (p.Asp94His)
|
rs730881164 |
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071 |
NM_000371.3(TTR):c.336+19G>A
|
rs75517067 |
NM_000371.3(TTR):c.337-18G>C
|
rs36204272 |
NM_000371.3(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435 |
NM_000371.3(TTR):c.368G>A (p.Arg123His)
|
rs148538950 |
NM_000371.3(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030 |
NM_000371.3(TTR):c.384C>T (p.Ala128=)
|
rs143906738 |
NM_000371.3(TTR):c.386C>T (p.Ala129Val)
|
rs121918092 |
NM_000371.3(TTR):c.70-19G>A
|
rs548935944 |
NM_000371.3(TTR):c.70-7C>T
|
rs587780990 |
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322 |
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979 |
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343 |
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384 |
NM_000371.4(TTR):c.201-3T>C
|
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070 |
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074 |
NM_000371.4(TTR):c.337-13T>C
|
rs762691667 |
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220 |
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095 |
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981 |
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382 |
NM_000371.4(TTR):c.75C>T (p.Thr25=)
|
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458 |
NM_000399.5(EGR2):c.*145T>A
|
rs886047091 |
NM_000399.5(EGR2):c.*150A>G
|
|
NM_000399.5(EGR2):c.*230G>T
|
|
NM_000399.5(EGR2):c.*287T>A
|
rs61865883 |
NM_000399.5(EGR2):c.*288G>A
|
rs117395928 |
NM_000399.5(EGR2):c.*429G>A
|
rs114237833 |
NM_000399.5(EGR2):c.*456G>A
|
rs886047090 |
NM_000399.5(EGR2):c.*618T>C
|
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997 |
NM_000399.5(EGR2):c.*655G>A
|
rs886047089 |
NM_000399.5(EGR2):c.*79C>A
|
|
NM_000399.5(EGR2):c.*874A>G
|
rs61865882 |
NM_000399.5(EGR2):c.*919G>C
|
rs886047087 |
NM_000399.5(EGR2):c.-1A>G
|
rs553201646 |
NM_000399.5(EGR2):c.-299G>A
|
|
NM_000399.5(EGR2):c.-64A>C
|
|
NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly)
|
rs1589080632 |
NM_000399.5(EGR2):c.1064A>T (p.Asp355Val)
|
rs1589080611 |
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161 |
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)
|
rs281865136 |
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)
|
rs1554853028 |
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133 |
NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys)
|
rs1589080524 |
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137 |
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138 |
NM_000399.5(EGR2):c.1147G>C (p.Asp383His)
|
rs104894160 |
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.1183G>C (p.Glu395Gln)
|
|
NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer)
|
rs1589080408 |
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.1242G>A (p.Lys414=)
|
rs554456422 |
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)
|
rs138967272 |
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272 |
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092 |
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073 |
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658 |
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213 |
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014 |
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
|
|
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
|
|
NM_000399.5(EGR2):c.222A>G (p.Pro74=)
|
rs201068734 |
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451 |
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)
|
rs932803146 |
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386 |
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095 |
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487 |
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
|
|
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
|
NM_000399.5(EGR2):c.774G>A (p.Val258=)
|
|
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158 |
NM_000399.5(EGR2):c.816C>A (p.Thr272=)
|
rs863224359 |
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
|
|
NM_000399.5(EGR2):c.897AGC[7] (p.Ala308_Ala309dup)
|
|
NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup)
|
rs746688326 |
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094 |
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093 |
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
|
|
NM_000399.5(EGR2):c.941A>C (p.His314Pro)
|
rs768808272 |
NM_000530.6(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.*102C>T
|
|
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.*1C>T
|
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
NM_000530.8(MPZ):c.*341A>G
|
|
NM_000530.8(MPZ):c.*360C>G
|
|
NM_000530.8(MPZ):c.*369C>T
|
|
NM_000530.8(MPZ):c.*435T>G
|
|
NM_000530.8(MPZ):c.*522C>A
|
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563 |
NM_000530.8(MPZ):c.*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.*752G>A
|
|
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.*903G>A
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608 |
NM_000530.8(MPZ):c.-10_-6dup
|
rs1571822935 |
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317 |
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596 |
NM_000530.8(MPZ):c.103G>C (p.Asp35His)
|
|
NM_000530.8(MPZ):c.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)
|
rs1571820248 |
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser)
|
|
NM_000530.8(MPZ):c.128G>T (p.Gly43Val)
|
rs1571820237 |
NM_000530.8(MPZ):c.129_136del (p.Ser44fs)
|
rs760730366 |
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186 |
NM_000530.8(MPZ):c.131C>G (p.Ser44Cys)
|
rs121913598 |
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598 |
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353 |
NM_000530.8(MPZ):c.136G>A (p.Val46Met)
|
rs1571820190 |
NM_000530.8(MPZ):c.142C>G (p.Leu48Val)
|
rs1180998665 |
NM_000530.8(MPZ):c.143T>A (p.Leu48Gln)
|
rs1571820161 |
NM_000530.8(MPZ):c.143T>C (p.Leu48Pro)
|
rs1571820161 |
NM_000530.8(MPZ):c.148T>G (p.Cys50Gly)
|
rs1571820143 |
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
|
|
NM_000530.8(MPZ):c.149_151del (p.Cys50del)
|
rs1553259792 |
NM_000530.8(MPZ):c.150C>G (p.Cys50Trp)
|
rs1571820129 |
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)
|
rs1553259790 |
NM_000530.8(MPZ):c.160T>C (p.Ser54Pro)
|
rs1553259785 |
NM_000530.8(MPZ):c.161C>G (p.Ser54Cys)
|
rs1571820092 |
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133 |
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067 |
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)
|
rs1341175303 |
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)
|
rs1571820049 |
NM_000530.8(MPZ):c.174C>T (p.Val58=)
|
|
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.184A>G (p.Ile62Val)
|
|
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)
|
rs1571819975 |
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala)
|
rs1553259760 |
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964 |
NM_000530.8(MPZ):c.194C>T (p.Thr65Ile)
|
rs1571819964 |
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
|
rs1571819946 |
NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs)
|
|
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)
|
rs775361544 |
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
|
rs1427063795 |
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099 |
NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)
|
rs201720099 |
NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys)
|
rs1571819911 |
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
|
rs1571819906 |
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
|
|
NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)
|
rs1571819890 |
NM_000530.8(MPZ):c.209C>T (p.Pro70Leu)
|
rs1571819875 |
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540 |
NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)
|
rs573007540 |
NM_000530.8(MPZ):c.223del (p.Asp75fs)
|
rs1571819824 |
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597 |
NM_000530.8(MPZ):c.227C>T (p.Ala76Val)
|
rs1170786711 |
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)
|
rs121913601 |
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601 |
NM_000530.8(MPZ):c.235-1G>C
|
rs1571819375 |
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123 |
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594 |
NM_000530.8(MPZ):c.242A>T (p.His81Leu)
|
rs121913594 |
NM_000530.8(MPZ):c.243C>G (p.His81Gln)
|
rs1571819354 |
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124 |
NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser)
|
rs1553259707 |
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)
|
rs1553259707 |
NM_000530.8(MPZ):c.24C>T (p.Ser8=)
|
rs144841836 |
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)
|
rs1553259703 |
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)
|
rs1571819301 |
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.271G>A (p.Glu91Lys)
|
rs1383238492 |
NM_000530.8(MPZ):c.276G>A (p.Val92=)
|
rs1558154193 |
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu)
|
rs1060503418 |
NM_000530.8(MPZ):c.278G>C (p.Gly93Ala)
|
rs1060503418 |
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)
|
rs121913583 |
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)
|
rs121913606 |
NM_000530.8(MPZ):c.290_293del (p.Glu97fs)
|
rs1571819196 |
NM_000530.8(MPZ):c.292C>A (p.Arg98Ser)
|
rs121913590 |
NM_000530.8(MPZ):c.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)
|
rs1571819182 |
NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)
|
rs1553259683 |
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
|
rs1060503423 |
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
rs1017715903 |
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149 |
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
rs1558154149 |
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125 |
NM_000530.8(MPZ):c.307G>T (p.Gly103Trp)
|
rs1571819127 |
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu)
|
rs121913600 |
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)
|
rs121913609 |
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu)
|
rs786204215 |
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
|
rs1571819084 |
NM_000530.8(MPZ):c.317G>A (p.Arg106His)
|
rs145039212 |
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
|
|
NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)
|
rs1060503420 |
NM_000530.8(MPZ):c.327T>A (p.Asp109Glu)
|
rs1571819047 |
NM_000530.8(MPZ):c.329G>A (p.Gly110Asp)
|
rs1468741050 |
NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)
|
rs1553259663 |
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe)
|
rs1553259663 |
NM_000530.8(MPZ):c.335T>C (p.Ile112Thr)
|
rs1553259662 |
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126 |
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr)
|
rs267607241 |
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)
|
rs1571818994 |
NM_000530.8(MPZ):c.346A>C (p.Asn116His)
|
rs267607242 |
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130 |
NM_000530.8(MPZ):c.352G>A (p.Asp118Asn)
|
rs1571818972 |
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)
|
rs879254038 |
NM_000530.8(MPZ):c.365A>G (p.Asn122Ser)
|
rs1571818948 |
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser)
|
rs121913608 |
NM_000530.8(MPZ):c.367G>T (p.Gly123Cys)
|
rs121913608 |
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)
|
rs1553259656 |
NM_000530.8(MPZ):c.368G>T (p.Gly123Val)
|
rs1553259656 |
NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del)
|
rs1571818858 |
NM_000530.8(MPZ):c.370A>G (p.Thr124Ala)
|
rs1571818905 |
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595 |
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)
|
rs1571818880 |
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)
|
rs797044941 |
NM_000530.8(MPZ):c.382G>A (p.Asp128Asn)
|
rs267607243 |
NM_000530.8(MPZ):c.383A>G (p.Asp128Gly)
|
rs1571818845 |
NM_000530.8(MPZ):c.384C>G (p.Asp128Glu)
|
rs772611598 |
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127 |
NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr)
|
rs1571818826 |
NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)
|
rs1571818819 |
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599 |
NM_000530.8(MPZ):c.394C>A (p.Pro132Thr)
|
rs1553259649 |
NM_000530.8(MPZ):c.395C>T (p.Pro132Leu)
|
rs1571818800 |
NM_000530.8(MPZ):c.396_397del (p.Pro133fs)
|
rs1571818797 |
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648 |
NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)
|
rs1553259648 |
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
|
rs1558154010 |
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)
|
rs1553259647 |
NM_000530.8(MPZ):c.401A>G (p.Asp134Gly)
|
rs1571818775 |
NM_000530.8(MPZ):c.402C>A (p.Asp134Glu)
|
rs1571818770 |
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)
|
rs879253858 |
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)
|
rs121913587 |
NM_000530.8(MPZ):c.405A>G (p.Ile135Met)
|
rs1571818752 |
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)
|
rs1571818744 |
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)
|
rs121913588 |
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)
|
rs863225025 |
NM_000530.8(MPZ):c.410G>C (p.Gly137Ala)
|
rs863225025 |
NM_000530.8(MPZ):c.410G>T (p.Gly137Val)
|
rs863225025 |
NM_000530.8(MPZ):c.411C>T (p.Gly137=)
|
rs1558153994 |
NM_000530.8(MPZ):c.414G>C (p.Lys138Asn)
|
rs1571818712 |
NM_000530.8(MPZ):c.416C>A (p.Thr139Asn)
|
rs1571818702 |
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627 |
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys)
|
rs863224449 |
NM_000530.8(MPZ):c.421C>T (p.Gln141Ter)
|
rs1456458087 |
NM_000530.8(MPZ):c.428C>G (p.Thr143Arg)
|
rs750724650 |
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650 |
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
|
|
NM_000530.8(MPZ):c.431T>C (p.Leu144Pro)
|
rs1571818648 |
NM_000530.8(MPZ):c.431del (p.Leu144fs)
|
rs1182353109 |
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603 |
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603 |
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643 |
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)
|
rs1571818632 |
NM_000530.8(MPZ):c.436G>T (p.Val146Phe)
|
rs1571818627 |
NM_000530.8(MPZ):c.437T>G (p.Val146Gly)
|
rs1571818614 |
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
|
NM_000530.8(MPZ):c.448+2T>G
|
|
NM_000530.8(MPZ):c.449-1G>A
|
rs1571818339 |
NM_000530.8(MPZ):c.449-1G>C
|
rs1571818339 |
NM_000530.8(MPZ):c.449-1G>T
|
rs1571818339 |
NM_000530.8(MPZ):c.449-9C>T
|
rs750530042 |
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
|
rs754068936 |
NM_000530.8(MPZ):c.45T>G (p.Ala15=)
|
rs1571822805 |
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
|
rs1571818312 |
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248 |
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)
|
rs1571818114 |
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
|
|
NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter)
|
rs140671661 |
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)
|
rs753107323 |
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
|
|
NM_000530.8(MPZ):c.550C>G (p.Leu184Val)
|
rs1571818032 |
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
|
rs1571818007 |
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
|
|
NM_000530.8(MPZ):c.551del (p.Leu184fs)
|
rs1571818021 |
NM_000530.8(MPZ):c.553del (p.Arg185fs)
|
rs1571818002 |
NM_000530.8(MPZ):c.554del (p.Arg185fs)
|
rs1571817993 |
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568 |
NM_000530.8(MPZ):c.560_566del (p.Gln187fs)
|
rs1571817945 |
NM_000530.8(MPZ):c.560del (p.Gln187fs)
|
rs1571817966 |
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
|
|
NM_000530.8(MPZ):c.570del (p.Gln191fs)
|
rs1571817919 |
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
|
rs1571817911 |
NM_000530.8(MPZ):c.578G>A (p.Arg193Lys)
|
rs761291277 |
NM_000530.8(MPZ):c.584+2T>G
|
rs879254054 |
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129 |
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)
|
rs770994564 |
NM_000530.8(MPZ):c.59C>T (p.Ser20Phe)
|
rs932826788 |
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790 |
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
|
|
NM_000530.8(MPZ):c.616G>T (p.Gly206Ter)
|
rs1571817547 |
NM_000530.8(MPZ):c.626_630del (p.Ala209fs)
|
rs1571817499 |
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679 |
NM_000530.8(MPZ):c.645+10A>G
|
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131 |
NM_000530.8(MPZ):c.645+2dup
|
rs1571817455 |
NM_000530.8(MPZ):c.646-10_650del
|
rs863225026 |
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132 |
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
|
|
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)
|
rs1571817201 |
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)
|
rs1571817197 |
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247 |
NM_000530.8(MPZ):c.679A>G (p.Arg227Gly)
|
rs1571817154 |
NM_000530.8(MPZ):c.679A>T (p.Arg227Ter)
|
rs1571817154 |
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605 |
NM_000530.8(MPZ):c.68-5_71del
|
rs1571820401 |
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)
|
rs1571817146 |
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.704A>G (p.Lys235Arg)
|
|
NM_000530.8(MPZ):c.706A>G (p.Lys236Glu)
|
rs1571817094 |
NM_000530.8(MPZ):c.736G>A (p.Asp246Asn)
|
rs1571816993 |
NM_000530.8(MPZ):c.742A>T (p.Lys248Ter)
|
rs1571816977 |
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121 |
NM_000530.8(MPZ):c.89T>G (p.Ile30Ser)
|
rs281865121 |
NM_000530.8(MPZ):c.90C>G (p.Ile30Met)
|
rs770546306 |
NM_000530.8(MPZ):c.94G>T (p.Val32Phe)
|
rs1034932344 |
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)
|
rs771372609 |
NM_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.1861T>C (p.Cys621Arg)
|
rs879253752 |
NM_000902.4(MME):c.1904G>A (p.Gly635Asp)
|
rs151302020 |
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_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884 |
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885 |
NM_001005360.2(DNM2):c.*106T>C
|
rs886054144 |
NM_001005360.2(DNM2):c.*10G>A
|
rs200188660 |
NM_001005360.2(DNM2):c.*14C>T
|
rs369529119 |
NM_001005360.2(DNM2):c.*166G>A
|
rs886054145 |
NM_001005360.2(DNM2):c.*22C>T
|
rs531170486 |
NM_001005360.2(DNM2):c.*268A>T
|
rs12461992 |
NM_001005360.2(DNM2):c.*35C>G
|
rs199700849 |
NM_001005360.2(DNM2):c.*385C>T
|
rs78160240 |
NM_001005360.2(DNM2):c.*386G>C
|
rs74952080 |
NM_001005360.2(DNM2):c.*391C>T
|
rs886054147 |
NM_001005360.2(DNM2):c.*453C>T
|
rs200104482 |
NM_001005360.2(DNM2):c.*47G>A
|
rs367938944 |
NM_001005360.2(DNM2):c.*550G>A
|
rs886054148 |
NM_001005360.2(DNM2):c.*601C>T
|
rs185820576 |
NM_001005360.2(DNM2):c.*607G>A
|
rs117954916 |
NM_001005360.2(DNM2):c.*711T>C
|
rs886054149 |
NM_001005360.2(DNM2):c.*79G>A
|
rs550692861 |
NM_001005360.2(DNM2):c.*82C>T
|
rs569502521 |
NM_001005360.2(DNM2):c.*88C>G
|
rs886054143 |
NM_001005360.2(DNM2):c.-122G>A
|
rs886054139 |
NM_001005360.2(DNM2):c.-153G>T
|
rs886054138 |
NM_001005360.2(DNM2):c.-19G>T
|
rs753599004 |
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)
|
rs767838513 |
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176 |
NM_001005360.2(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319 |
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)
|
rs1280243348 |
NM_001005360.2(DNM2):c.1335+13C>T
|
rs150975494 |
NM_001005360.2(DNM2):c.1335+1G>A
|
rs1431565635 |
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060 |
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676 |
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
|
rs745748213 |
NM_001005360.2(DNM2):c.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.1418A>T (p.Asp473Val)
|
rs766613900 |
NM_001005360.2(DNM2):c.1422+9C>T
|
rs199952853 |
NM_001005360.2(DNM2):c.1423-12G>A
|
rs376753915 |
NM_001005360.2(DNM2):c.1423-9C>G
|
rs371006369 |
NM_001005360.2(DNM2):c.1437C>T (p.Ile479=)
|
rs146506201 |
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840 |
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
|
rs746903992 |
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140 |
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)
|
rs368752035 |
NM_001005360.2(DNM2):c.161+3G>A
|
rs1555696272 |
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284 |
NM_001005360.2(DNM2):c.162-7C>A
|
rs148318860 |
NM_001005360.2(DNM2):c.162-7C>T
|
rs148318860 |
NM_001005360.2(DNM2):c.162-9C>A
|
rs200736669 |
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489 |
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522 |
NM_001005360.2(DNM2):c.1671+3G>C
|
rs942932745 |
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216 |
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
|
rs35365412 |
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)
|
rs1269225724 |
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881 |
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679 |
NM_001005360.2(DNM2):c.177C>A (p.Arg59=)
|
rs762795230 |
NM_001005360.2(DNM2):c.177C>T (p.Arg59=)
|
rs762795230 |
NM_001005360.2(DNM2):c.1781+6G>T
|
rs1568318838 |
NM_001005360.2(DNM2):c.1782-11C>T
|
rs78580529 |
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)
|
rs773598203 |
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)
|
rs1274228418 |
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919 |
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315 |
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390 |
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236 |
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln)
|
rs1568321851 |
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys)
|
rs772920450 |
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)
|
rs1568283807 |
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
|
rs752080566 |
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val)
|
rs1568321953 |
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val)
|
rs1555716140 |
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660 |
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.2105C>T (p.Ser702Leu)
|
rs745382488 |
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=)
|
rs1555716924 |
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367 |
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326 |
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.2201A>G (p.Asn734Ser)
|
rs577767034 |
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.2253T>C (p.Pro751=)
|
rs200155565 |
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182 |
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300 |
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg)
|
rs1568324385 |
NM_001005360.2(DNM2):c.2291+4C>T
|
rs200408852 |
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
|
rs779394836 |
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
|
rs374864354 |
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
|
rs1599641077 |
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138 |
NM_001005360.2(DNM2):c.235+12C>A
|
rs147026993 |
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)
|
rs780738840 |
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)
|
rs1285468865 |
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794 |
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
|
rs751961437 |
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met)
|
rs755608537 |
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
|
rs1599641452 |
NM_001005360.2(DNM2):c.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
|
|
NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141 |
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354 |
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=)
|
rs761141093 |
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590 |
NM_001005360.2(DNM2):c.2576_2581del (p.Thr859_Ile860del)
|
rs876661117 |
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548 |
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
|
rs144472798 |
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
|
rs1340636700 |
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
|
rs200408053 |
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459 |
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
|
rs1014814501 |
NM_001005360.2(DNM2):c.33G>A (p.Pro11=)
|
rs779502758 |
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358 |
NM_001005360.2(DNM2):c.384C>T (p.His128=)
|
rs201089328 |
NM_001005360.2(DNM2):c.386-6T>A
|
rs114623441 |
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632 |
NM_001005360.2(DNM2):c.450A>G (p.Pro150=)
|
rs766121627 |
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)
|
rs200002469 |
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)
|
rs748887276 |
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)
|
rs542515194 |
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
|
rs767908123 |
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270 |
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
|
rs148900299 |
NM_001005360.2(DNM2):c.645C>T (p.Asp215=)
|
rs148900299 |
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811 |
NM_001005360.2(DNM2):c.666C>T (p.Asn222=)
|
rs2229921 |
NM_001005360.2(DNM2):c.689-3C>T
|
rs373330742 |
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn)
|
rs749672066 |
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
|
rs749672066 |
NM_001005360.2(DNM2):c.699C>T (p.Gly233=)
|
rs751844947 |
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu)
|
rs377159042 |
NM_001005360.2(DNM2):c.750A>G (p.Ala250=)
|
rs202214529 |
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
|
rs752195631 |
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989 |
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674 |
NM_001005360.2(DNM2):c.789G>A (p.Pro263=)
|
rs199976453 |
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
|
rs754507545 |
NM_001005360.2(DNM2):c.800A>G (p.His267Arg)
|
rs1412618988 |
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
|
rs138128705 |
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
|
rs781546006 |
NM_001005360.2(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378 |
NM_001005360.2(DNM2):c.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)
|
rs587778235 |
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp)
|
rs587778235 |
NM_001005360.2(DNM2):c.876G>A (p.Ser292=)
|
rs749140605 |
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_001005361.3(DNM2):c.*185A>C
|
|
NM_001005361.3(DNM2):c.*214C>T
|
|
NM_001005361.3(DNM2):c.*321A>G
|
|
NM_001005361.3(DNM2):c.*373G>A
|
|
NM_001005361.3(DNM2):c.*379C>T
|
|
NM_001005361.3(DNM2):c.*671T>C
|
|
NM_001005361.3(DNM2):c.*716C>T
|
|
NM_001005361.3(DNM2):c.*751T>A
|
|
NM_001005361.3(DNM2):c.-116C>T
|
|
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
|
|
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
|
|
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
|
|
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
|
|
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
|
|
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
|
|
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
|
|
NM_001005361.3(DNM2):c.1188T>C (p.His396=)
|
rs1039592560 |
NM_001005361.3(DNM2):c.1196+625C>T
|
rs542089703 |
NM_001005361.3(DNM2):c.1196+626G>A
|
|
NM_001005361.3(DNM2):c.1196+628G>C
|
rs374376619 |
NM_001005361.3(DNM2):c.1196+640G>A
|
|
NM_001005361.3(DNM2):c.1196+652C>T
|
rs377319162 |
NM_001005361.3(DNM2):c.1196+707G>C
|
|
NM_001005361.3(DNM2):c.1196+710G>A
|
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
|
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
|
|
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
|
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
|
NM_001005361.3(DNM2):c.1423-8T>C
|
rs1599583116 |
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
|
|
NM_001005361.3(DNM2):c.1493+5G>A
|
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103 |
NM_001005361.3(DNM2):c.1558-9T>G
|
rs748026953 |
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)
|
rs774973372 |
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
|
|
NM_001005361.3(DNM2):c.161+12_161+29dup
|
rs750378486 |
NM_001005361.3(DNM2):c.1671+14G>A
|
|
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
|
|
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
|
|
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980 |
NM_001005361.3(DNM2):c.1782-7C>G
|
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
|
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)
|
rs201972896 |
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920 |
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
|
|
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
|
|
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
|
|
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
|
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
|
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
|
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528 |
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
|
NM_001005361.3(DNM2):c.2291+5G>A
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
|
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)
|
rs202060910 |
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
|
|
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
|
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
|
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
|
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
|
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
|
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
|
|
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)
|
rs200782592 |
NM_001005361.3(DNM2):c.2543+5G>C
|
|
NM_001005361.3(DNM2):c.2544-3C>T
|
|
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
|
|
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
|
|
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
|
|
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)
|
rs144472798 |
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
|
rs111837150 |
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
|
|
NM_001005361.3(DNM2):c.386-6T>C
|
rs114623441 |
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
|
NM_001005361.3(DNM2):c.453C>T (p.Asp151=)
|
rs201681441 |
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
|
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)
|
rs1599530007 |
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
|
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
|
|
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
|
|
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691 |
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)
|
rs752944817 |
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
|
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
|
|
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
|
|
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
|
|
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
|
|
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
|
|
NM_001005361.3(DNM2):c.807C>T (p.Ala269=)
|
rs752361306 |
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
|
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
|
NM_001005361.3(DNM2):c.849+7C>T
|
|
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
|
|
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)
|
rs117398902 |
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
|
|
NM_001005361.3(DNM2):c.900A>G (p.Leu300=)
|
rs1599552753 |
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)
|
rs949106319 |
NM_001007792.1(NTRK1):c.1072G>A (p.Glu358Lys)
|
rs1008878777 |
NM_001007792.1(NTRK1):c.1366G>A (p.Glu456Lys)
|
rs144901788 |
NM_001007792.1(NTRK1):c.1443_1444insACATCGGG (p.Glu482fs)
|
rs1571699222 |
NM_001007792.1(NTRK1):c.1447G>C (p.Gly483Arg)
|
rs1571699241 |
NM_001007792.1(NTRK1):c.1456G>A (p.Gly486Arg)
|
rs1571699266 |
NM_001007792.1(NTRK1):c.1582C>T (p.Leu528Phe)
|
rs1571699773 |
NM_001007792.1(NTRK1):c.1625T>G (p.Val542Gly)
|
rs1571699872 |
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028 |
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs)
|
rs1571699945 |
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter)
|
rs763758904 |
NM_001007792.1(NTRK1):c.1759G>T (p.Gly587Cys)
|
rs778746462 |
NM_001007792.1(NTRK1):c.1787_1788insA (p.Ser596fs)
|
rs1571702751 |
NM_001007792.1(NTRK1):c.1838G>T (p.Arg613Leu)
|
rs786205449 |
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys)
|
rs764992664 |
NM_001007792.1(NTRK1):c.2181C>G (p.Cys727Trp)
|
rs1570912410 |
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu)
|
rs756981419 |
NM_001007792.1(NTRK1):c.2200C>T (p.Gln734Ter)
|
rs764816792 |
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs)
|
rs1570912482 |
NM_001007792.1(NTRK1):c.2236C>T (p.Gln746Ter)
|
rs1570912515 |
NM_001007792.1(NTRK1):c.406G>T (p.Gly136Ter)
|
rs1571689630 |
NM_001007792.1(NTRK1):c.453del (p.Leu153fs)
|
rs1485714154 |
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro)
|
rs747711259 |
NM_001007792.1(NTRK1):c.632dup (p.Gly212fs)
|
rs1571693477 |
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs)
|
rs1571695851 |
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys)
|
rs121964869 |
NM_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.873+2T>C
|
rs137852738 |
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter)
|
rs137852739 |
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter)
|
rs797045039 |
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823 |
NM_001097642.3(GJB1):c.-16-475C>G
|
|
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys)
|
rs750807119 |
NM_001113491.2(SEPTIN9):c.1476+2T>G
|
rs918808795 |
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val)
|
rs1598472570 |
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg)
|
rs1598484143 |
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu)
|
rs753322947 |
NM_001113491.2(SEPTIN9):c.19+4829C>A
|
rs1598462622 |
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp)
|
rs760234906 |
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr)
|
rs199861986 |
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly)
|
rs1598317173 |
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser)
|
rs1598317232 |
NM_001113491.2(SEPTIN9):c.722-6324del
|
rs1598433427 |
NM_001113491.2(SEPTIN9):c.722-6334T>C
|
rs752934838 |
NM_001113491.2(SEPTIN9):c.722-6589G>C
|
rs202206729 |
NM_001113491.2(SEPTIN9):c.722-6624T>C
|
rs746223748 |
NM_001113491.2(SEPTIN9):c.722-7T>C
|
rs770521896 |
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr)
|
rs536822441 |
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His)
|
rs587781247 |
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT
|
rs1598444764 |
NM_001126131.1(POLG):c.[1491G>C(;)2243G>C]
|
|
NM_001127660.1(MFN2):c.*1797_*1799GTT[1]
|
rs140537612 |
NM_001127660.1(MFN2):c.-214C>G
|
|
NM_001127660.1(MFN2):c.-237G>A
|
|
NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del)
|
rs1478175861 |
NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del)
|
rs766213721 |
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys)
|
rs1553141017 |
NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro)
|
rs763492075 |
NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg)
|
rs1569829573 |
NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs)
|
rs763007983 |
NM_001127660.1(MFN2):c.479T>G (p.Val160Gly)
|
rs879253861 |
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser)
|
rs879253862 |
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile)
|
rs119103266 |
NM_001127660.1(MFN2):c.720C>G (p.Phe240Leu)
|
rs864622480 |
NM_001127660.1(MFN2):c.730G>T (p.Val244Leu)
|
rs879253777 |
NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg)
|
rs119103264 |
NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys)
|
rs1555365597 |
NM_001130089.1(KARS1):c.906C>G (p.Ile302Met)
|
rs146955132 |
NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg)
|
rs1599366542 |
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690 |
NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del)
|
rs1599366474 |
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg)
|
rs1599366076 |
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085 |
NM_001135242.2(NDRG1):c.64-6T>C
|
rs2272653 |
NM_001136473.1(LITAF):c.*1007G>A
|
rs535657236 |
NM_001136473.1(LITAF):c.*1029G>A
|
rs192766322 |
NM_001136473.1(LITAF):c.*1058C>T
|
rs75472256 |
NM_001136473.1(LITAF):c.*1074A>G
|
rs886051649 |
NM_001136473.1(LITAF):c.*107C>T
|
rs774123275 |
NM_001136473.1(LITAF):c.*116G>A
|
rs371453151 |
NM_001136473.1(LITAF):c.*1179A>C
|
|
NM_001136473.1(LITAF):c.*117C>T
|
rs748017885 |
NM_001136473.1(LITAF):c.*118G>A
|
rs864622744 |
NM_001136473.1(LITAF):c.*1295A>G
|
rs886051648 |
NM_001136473.1(LITAF):c.*1342A>C
|
|
NM_001136473.1(LITAF):c.*1376A>G
|
rs7102 |
NM_001136473.1(LITAF):c.*1489A>C
|
|
NM_001136473.1(LITAF):c.*149C>A
|
rs571908546 |
NM_001136473.1(LITAF):c.*1511G>A
|
|
NM_001136473.1(LITAF):c.*1524C>A
|
|
NM_001136473.1(LITAF):c.*1540C>A
|
rs80119580 |
NM_001136473.1(LITAF):c.*1547A>G
|
|
NM_001136473.1(LITAF):c.*1561T>G
|
|
NM_001136473.1(LITAF):c.*158G>A
|
|
NM_001136473.1(LITAF):c.*1618T>G
|
rs77423500 |
NM_001136473.1(LITAF):c.*1682C>A
|
rs886051647 |
NM_001136473.1(LITAF):c.*17-3C>T
|
rs774213197 |
NM_001136473.1(LITAF):c.*17-48C>A
|
rs752383184 |
NM_001136473.1(LITAF):c.*173C>T
|
rs768639690 |
NM_001136473.1(LITAF):c.*1752G>A
|
rs62022848 |
NM_001136473.1(LITAF):c.*1757C>G
|
|
NM_001136473.1(LITAF):c.*1978A>G
|
rs759832566 |
NM_001136473.1(LITAF):c.*2004A>G
|
|
NM_001136473.1(LITAF):c.*224C>T
|
rs149712652 |
NM_001136473.1(LITAF):c.*24G>A
|
rs797044847 |
NM_001136473.1(LITAF):c.*25C>T
|
rs201512884 |
NM_001136473.1(LITAF):c.*268C>T
|
rs1801977 |
NM_001136473.1(LITAF):c.*318G>A
|
rs886051652 |
NM_001136473.1(LITAF):c.*359C>A
|
|
NM_001136473.1(LITAF):c.*419A>T
|
rs886051651 |
NM_001136473.1(LITAF):c.*42C>A
|
rs281865135 |
NM_001136473.1(LITAF):c.*42C>T
|
rs281865135 |
NM_001136473.1(LITAF):c.*43C>G
|
rs797044848 |
NM_001136473.1(LITAF):c.*43C>T
|
rs797044848 |
NM_001136473.1(LITAF):c.*48T>C
|
|
NM_001136473.1(LITAF):c.*49G>A
|
rs144232569 |
NM_001136473.1(LITAF):c.*50C>T
|
rs748118642 |
NM_001136473.1(LITAF):c.*51G>A
|
rs780788687 |
NM_001136473.1(LITAF):c.*546C>T
|
rs13336723 |
NM_001136473.1(LITAF):c.*564G>A
|
rs13337025 |
NM_001136473.1(LITAF):c.*578C>A
|
rs192516633 |
NM_001136473.1(LITAF):c.*57G>A
|
rs754821950 |
NM_001136473.1(LITAF):c.*57G>C
|
rs754821950 |
NM_001136473.1(LITAF):c.*625A>G
|
|
NM_001136473.1(LITAF):c.*63C>T
|
rs1174214039 |
NM_001136473.1(LITAF):c.*688A>C
|
|
NM_001136473.1(LITAF):c.*68C>A
|
rs374918259 |
NM_001136473.1(LITAF):c.*69G>A
|
rs121908615 |
NM_001136473.1(LITAF):c.*69G>T
|
|
NM_001136473.1(LITAF):c.*723G>A
|
rs367546754 |
NM_001136473.1(LITAF):c.*836G>T
|
rs117082330 |
NM_001136473.1(LITAF):c.*848A>G
|
rs886051650 |
NM_001136473.1(LITAF):c.*921T>C
|
rs1198 |
NM_001136473.1(LITAF):c.*941T>A
|
rs7187810 |
NM_001136473.1(LITAF):c.*96G>A
|
rs543022814 |
NM_001136473.1(LITAF):c.-6+513G>C
|
|
NM_001136473.1(LITAF):c.-6+539G>A
|
rs545189325 |
NM_001136473.1(LITAF):c.-6+558C>T
|
rs528624227 |
NM_001136473.1(LITAF):c.-6+594A>G
|
rs12921437 |
NM_001136473.1(LITAF):c.-6+618C>G
|
|
NM_001136473.1(LITAF):c.-6+657C>A
|
rs374282727 |
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004 |
NM_001136473.1(LITAF):c.108T>G (p.Pro36=)
|
rs140990446 |
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser)
|
rs375202318 |
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
|
|
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
|
rs758166691 |
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602 |
NM_001136473.1(LITAF):c.147G>A (p.Thr49=)
|
rs145659732 |
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser)
|
rs752978718 |
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
|
|
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654 |
NM_001136473.1(LITAF):c.159G>A (p.Gly53=)
|
rs886051653 |
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
|
|
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
|
rs765644026 |
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
|
|
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
|
|
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser)
|
rs1555466907 |
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser)
|
rs746577483 |
NM_001136473.1(LITAF):c.220+4C>T
|
|
NM_001136473.1(LITAF):c.221-16C>T
|
|
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
|
rs756539992 |
NM_001136473.1(LITAF):c.226G>A (p.Val76Met)
|
rs371334679 |
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu)
|
rs371334679 |
NM_001136473.1(LITAF):c.234G>A (p.Thr78=)
|
rs9282774 |
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
|
rs1597329501 |
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
|
rs539627278 |
NM_001136473.1(LITAF):c.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)
|
rs375665454 |
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
|
|
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
|
|
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
|
rs11544251 |
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
NM_001136473.1(LITAF):c.27G>A (p.Ala9=)
|
rs149518815 |
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg)
|
rs201283647 |
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
|
rs373445989 |
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
|
|
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile)
|
rs200702853 |
NM_001136473.1(LITAF):c.330C>T (p.Asn110=)
|
rs139116481 |
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
|
rs1324125372 |
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.351G>C (p.Leu117=)
|
rs372220196 |
NM_001136473.1(LITAF):c.357C>T (p.Cys119=)
|
rs549492447 |
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val)
|
rs104894522 |
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
|
|
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
|
rs1597329148 |
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
|
|
NM_001136473.1(LITAF):c.377+13C>G
|
rs200357430 |
NM_001136473.1(LITAF):c.377+3G>A
|
|
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly)
|
|
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990 |
NM_001136473.1(LITAF):c.45A>G (p.Ser15=)
|
rs112192052 |
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.55G>A (p.Ala19Thr)
|
|
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.86T>G (p.Val29Gly)
|
rs201352515 |
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479 |
NM_001142386.3(PDK3):c.1077+8G>A
|
rs370736936 |
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=)
|
rs746261967 |
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988 |
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)
|
rs141326782 |
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445 |
NM_001142386.3(PDK3):c.249-8C>T
|
rs1231289510 |
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=)
|
rs201198782 |
NM_001142386.3(PDK3):c.320+6T>C
|
rs748960946 |
NM_001142386.3(PDK3):c.336G>C (p.Leu112=)
|
rs372442017 |
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370 |
NM_001142386.3(PDK3):c.376A>G (p.Met126Val)
|
rs138321172 |
NM_001142386.3(PDK3):c.473G>A (p.Arg158His)
|
rs397515323 |
NM_001142386.3(PDK3):c.474C>T (p.Arg158=)
|
rs756879455 |
NM_001142386.3(PDK3):c.485G>A (p.Arg162His)
|
rs867468579 |
NM_001142386.3(PDK3):c.486C>T (p.Arg162=)
|
rs1479754596 |
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp)
|
rs371137355 |
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822 |
NM_001142386.3(PDK3):c.582G>A (p.Ala194=)
|
rs144345856 |
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588 |
NM_001142386.3(PDK3):c.751-10A>G
|
rs372774822 |
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273 |
NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp)
|
rs373919106 |
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys)
|
rs864309705 |
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)
|
rs267606772 |
NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del
|
rs1588132672 |
NM_001204402.1(PRPS1):c.-159T>C
|
rs869025594 |
NM_001204402.1(PRPS1):c.-82-4220C>G
|
rs587777150 |
NM_001243571.2(MTMR2):c.-404+13C>T
|
rs139510268 |
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln)
|
rs61735578 |
NM_001243571.2(MTMR2):c.354+11T>C
|
rs182582445 |
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=)
|
rs566204 |
NM_001282625.2(LMNA):c.-206-17C>T
|
|
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
|
|
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
|
rs1602487890 |
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)
|
rs753651729 |
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys)
|
rs750686775 |
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)
|
rs1268129848 |
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
|
rs1602486072 |
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
|
rs762901266 |
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796 |
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
|
|
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)
|
rs1602485728 |
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
|
rs1555938741 |
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe)
|
rs1555938741 |
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)
|
rs754338828 |
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3])
|
rs1555938722 |
NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly)
|
rs766871664 |
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=)
|
rs768240412 |
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
|
|
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
|
|
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
|
rs777612473 |
NM_001303256.3(MORC2):c.1369+5T>A
|
|
NM_001303256.3(MORC2):c.1369+8_1369+9del
|
rs1602485471 |
NM_001303256.3(MORC2):c.1370-3C>T
|
rs770913783 |
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110 |
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
|
rs897870181 |
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
|
rs367704663 |
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
|
rs1602485184 |
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr)
|
rs1569192031 |
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=)
|
rs1345120667 |
NM_001303256.3(MORC2):c.1499-9T>C
|
rs201213165 |
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)
|
|
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=)
|
rs566259942 |
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
|
|
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)
|
rs1555938391 |
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
|
rs749364295 |
NM_001303256.3(MORC2):c.158-4A>T
|
rs763187520 |
NM_001303256.3(MORC2):c.158-5T>G
|
|
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
|
|
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
|
rs750003469 |
NM_001303256.3(MORC2):c.1605-3C>T
|
rs111618347 |
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
|
rs1338480863 |
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)
|
rs759248549 |
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
|
|
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
|
rs756912389 |
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
|
rs760345377 |
NM_001303256.3(MORC2):c.1737+4C>T
|
rs5997814 |
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
|
rs770774096 |
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
|
rs548292999 |
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His)
|
rs137983239 |
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
|
rs778753246 |
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)
|
rs146972491 |
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
|
|
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
|
rs200774292 |
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)
|
rs1214680334 |
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
|
rs1602482166 |
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)
|
rs1555937777 |
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
|
|
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)
|
rs1569190645 |
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969 |
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
|
rs1602481898 |
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
|
|
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=)
|
rs1555937681 |
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
|
rs200703581 |
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)
|
rs371710965 |
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
|
rs763542037 |
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
|
|
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
|
|
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
|
rs778099643 |
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
|
rs563612262 |
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
|
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873 |
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
|
rs201772330 |
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
|
rs560948457 |
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)
|
rs897158764 |
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
|
rs201032497 |
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln)
|
rs768807060 |
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)
|
rs780648306 |
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)
|
|
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
|
rs1602481313 |
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu)
|
rs760522350 |
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
|
|
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)
|
rs1555942389 |
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
|
rs142840638 |
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=)
|
rs775654284 |
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)
|
rs41279975 |
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
|
rs746418433 |
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del)
|
rs1247915167 |
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
|
|
NM_001303256.3(MORC2):c.227-5T>C
|
|
NM_001303256.3(MORC2):c.227-8C>G
|
rs773796930 |
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
|
rs762809030 |
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)
|
rs369384586 |
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
|
rs754626172 |
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=)
|
rs377574758 |
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=)
|
rs377574758 |
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
|
rs751495570 |
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)
|
rs140792905 |
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
|
rs551185965 |
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
|
|
NM_001303256.3(MORC2):c.2380+1G>A
|
rs113045177 |
NM_001303256.3(MORC2):c.2380+6C>G
|
rs1555936909 |
NM_001303256.3(MORC2):c.2381-3C>T
|
rs1309634022 |
NM_001303256.3(MORC2):c.2381-7T>C
|
rs754758325 |
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
|
|
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
|
|
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
|
|
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
|
|
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
|
|
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)
|
rs41279971 |
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
|
|
NM_001303256.3(MORC2):c.2522+3A>G
|
|
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=)
|
rs773690053 |
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)
|
rs1602477856 |
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
|
|
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)
|
rs1388475410 |
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)
|
rs1602499659 |
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
|
rs372199572 |
NM_001303256.3(MORC2):c.2649C>T (p.Val883=)
|
rs189421529 |
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066 |
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=)
|
rs565441094 |
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
|
|
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
|
rs202243108 |
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)
|
rs1555936530 |
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=)
|
rs141374674 |
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
|
rs1042426757 |
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
|
rs368417146 |
NM_001303256.3(MORC2):c.276T>C (p.Pro92=)
|
rs142640132 |
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
|
rs768569356 |
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
|
|
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
|
|
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)
|
rs781162787 |
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)
|
rs1485425350 |
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=)
|
rs376140991 |
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
|
|
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)
|
rs745339848 |
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
|
|
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=)
|
rs142766430 |
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
|
|
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
|
rs1388656367 |
NM_001303256.3(MORC2):c.3030+7C>T
|
rs766942597 |
NM_001303256.3(MORC2):c.3030+8C>T
|
rs376367685 |
NM_001303256.3(MORC2):c.3030+9G>C
|
rs200086094 |
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)
|
rs149110760 |
NM_001303256.3(MORC2):c.309G>A (p.Gly103=)
|
rs372357681 |
NM_001303256.3(MORC2):c.342T>C (p.Asp114=)
|
rs770837363 |
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
|
|
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala)
|
rs748216749 |
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559 |
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
|
rs1602496057 |
NM_001303256.3(MORC2):c.399G>A (p.Thr133=)
|
rs141171446 |
NM_001303256.3(MORC2):c.405T>C (p.His135=)
|
rs144582460 |
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
|
|
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
|
|
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
|
|
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)
|
rs186458188 |
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
|
rs1602491814 |
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
|
|
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
|
|
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)
|
rs541114863 |
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
|
rs750265510 |
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)
|
rs1555940315 |
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
|
|
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)
|
rs76273991 |
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)
|
rs73156742 |
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
|
rs375266158 |
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
|
rs893153652 |
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
|
|
NM_001303256.3(MORC2):c.684G>A (p.Thr228=)
|
rs534900451 |
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.743A>G (p.Tyr248Cys)
|
rs1355363942 |
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)
|
rs1064796495 |
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg)
|
rs1555939986 |
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe)
|
rs987083509 |
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)
|
|
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met)
|
rs764379949 |
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
|
|
NM_001303256.3(MORC2):c.870G>A (p.Gln290=)
|
rs766060409 |
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)
|
rs772766261 |
NM_001303256.3(MORC2):c.894A>G (p.Val298=)
|
rs562612569 |
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
|
|
NM_001303256.3(MORC2):c.927A>G (p.Ala309=)
|
rs1291021388 |
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
|
rs369654856 |
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
|
|
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.975G>A (p.Thr325=)
|
rs201903402 |
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp)
|
rs558057376 |
NM_001303256.3(MORC2):c.988-10A>G
|
rs370880177 |
NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu)
|
rs886049253 |
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del)
|
rs1264651352 |
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs)
|
rs1565921326 |
NM_001304481.1(FGD4):c.2118_2119CA[1] (p.Thr707fs)
|
rs1555223595 |
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs)
|
rs751035912 |
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr)
|
rs199744649 |
NM_001304481.1(FGD4):c.8del (p.Gly3fs)
|
rs1357153004 |
NM_001316772.1(GARS1):c.-207C>G
|
rs903029869 |
NM_001316772.1(GARS1):c.-221C>T
|
rs886062271 |
NM_001316772.1(GARS1):c.-226C>T
|
|
NM_001316772.1(GARS1):c.-231T>A
|
rs527307703 |
NM_001316772.1(GARS1):c.-231T>G
|
|
NM_001316772.1(GARS1):c.-242C>T
|
rs886062270 |
NM_001316772.1(GARS1):c.-247C>A
|
|
NM_001316772.1(GARS1):c.-328T>G
|
|
NM_001316772.1(GARS1):c.-339T>C
|
rs78980639 |
NM_001316772.1(GARS1):c.-342G>C
|
|
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)
|
rs150269814 |
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)
|
rs141228634 |
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)
|
rs146174311 |
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)
|
rs145734191 |
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)
|
rs1373209779 |
NM_001349253.2(SCN11A):c.4057-1G>A
|
rs1575205608 |
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)
|
rs1553630322 |
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)
|
rs201107889 |
NM_001354663.2(OPA1):c.-260_-243del
|
rs863224140 |
NM_001362931.2(GDAP1):c.694+3856A>G
|
|
NM_001362931.2(GDAP1):c.694+3989C>T
|
|
NM_001362931.2(GDAP1):c.694+4016T>C
|
|
NM_001362931.2(GDAP1):c.694+4037T>C
|
rs886063119 |
NM_001362931.2(GDAP1):c.694+932_694+1314del
|
|
NM_001365088.1(SLC12A6):c.1118+1G>A
|
rs762730861 |
NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp)
|
rs1595430425 |
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs)
|
rs1555378419 |
NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs)
|
rs1595415679 |
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215 |
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs)
|
rs606231158 |
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229 |
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)
|
rs121908429 |
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs)
|
rs606231157 |
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs)
|
rs606231279 |
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile)
|
rs200328637 |
NM_001365951.3(KIF1B):c.107-11T>G
|
|
NM_001365951.3(KIF1B):c.107-13T>C
|
|
NM_001365951.3(KIF1B):c.1180+13A>G
|
|
NM_001365951.3(KIF1B):c.1180+19G>A
|
|
NM_001365951.3(KIF1B):c.1222+16_1222+17del
|
|
NM_001365951.3(KIF1B):c.1223-28C>T
|
|
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
|
|
NM_001365951.3(KIF1B):c.1435-9C>T
|
|
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
|
|
NM_001365951.3(KIF1B):c.1671-4T>C
|
|
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
|
|
NM_001365951.3(KIF1B):c.1777+10C>T
|
rs3753037 |
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
|
|
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
|
|
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
|
|
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
|
|
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)
|
|
NM_001365951.3(KIF1B):c.2043-4C>T
|
|
NM_001365951.3(KIF1B):c.2043-9del
|
|
NM_001365951.3(KIF1B):c.2115+6205C>G
|
rs771399291 |
NM_001365951.3(KIF1B):c.2115+6385G>A
|
rs1569773823 |
NM_001365951.3(KIF1B):c.2115+6425T>C
|
rs778186347 |
NM_001365951.3(KIF1B):c.2115+6548G>A
|
rs781257253 |
NM_001365951.3(KIF1B):c.2115+7103A>G
|
rs756513840 |
NM_001365951.3(KIF1B):c.2115+7159A>G
|
rs1569777868 |
NM_001365951.3(KIF1B):c.2115+7161C>A
|
rs766794209 |
NM_001365951.3(KIF1B):c.2115+7308A>C
|
rs772349989 |
NM_001365951.3(KIF1B):c.2358+9C>T
|
|
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
|
|
NM_001365951.3(KIF1B):c.2537+15A>G
|
|
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)
|
rs200858074 |
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
|
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052 |
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)
|
rs749154726 |
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His)
|
rs145494902 |
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
|
|
NM_001365951.3(KIF1B):c.3259+3A>C
|
|
NM_001365951.3(KIF1B):c.3422+18T>C
|
|
NM_001365951.3(KIF1B):c.3688+7_3688+8dup
|
|
NM_001365951.3(KIF1B):c.3798-15G>A
|
|
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
|
|
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser)
|
rs1569614217 |
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr)
|
rs766990936 |
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile)
|
rs1569897794 |
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
|
|
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
|
NM_001365951.3(KIF1B):c.4305-17T>A
|
|
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
|
|
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)
|
rs754226097 |
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=)
|
rs373636782 |
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs)
|
rs377576958 |
NM_001365951.3(KIF1B):c.4753-20C>A
|
|
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
|
|
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
|
|
NM_001365951.3(KIF1B):c.4946+10C>T
|
|
NM_001365951.3(KIF1B):c.4947-13C>G
|
|
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
|
|
NM_001365951.3(KIF1B):c.5097-11G>T
|
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833 |
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
|
|
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
|
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552 |
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
|
|
NM_001365951.3(KIF1B):c.5409-16C>T
|
|
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro)
|
rs1569935737 |
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
|
|
NM_001365951.3(KIF1B):c.608+14T>G
|
|
NM_001365951.3(KIF1B):c.609-10G>A
|
|
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
|
|
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg)
|
rs762280202 |
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
|
|
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)
|
rs772548887 |
NM_001365951.3(KIF1B):c.959-16T>A
|
|
NM_001370298.1(FGD4):c.123C>G (p.Ile41Met)
|
rs2651369 |
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn)
|
rs1574077431 |
NM_001371279.1(REEP1):c.304-2A>G
|
rs387907242 |
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)
|
rs587781248 |
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367 |
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378 |
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901 |
NM_001376.5(DYNC1H1):c.*194C>G
|
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862 |
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996 |
NM_001376.5(DYNC1H1):c.*70T>C
|
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759 |
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436 |
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858 |
NM_001376.5(DYNC1H1):c.-90C>T
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412 |
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622 |
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
|
rs1458996905 |
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=)
|
rs772665813 |
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
|
|
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.10213A>G (p.Met3405Val)
|
|
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
|
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497 |
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
|
rs766521055 |
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
|
rs1407151844 |
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)
|
rs1555411400 |
NM_001376.5(DYNC1H1):c.1035G>A (p.Leu345=)
|
rs993263559 |
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)
|
rs184264124 |
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421 |
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
|
rs372041146 |
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857 |
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.10548C>T (p.Tyr3516=)
|
rs760532492 |
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040 |
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
|
|
NM_001376.5(DYNC1H1):c.10626+12G>A
|
|
NM_001376.5(DYNC1H1):c.10626+7A>G
|
rs1427174553 |
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461 |
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
|
|
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=)
|
rs143068719 |
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
|
rs1595626695 |
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe)
|
rs1567019533 |
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His)
|
rs1064796932 |
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
|
rs148203153 |
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)
|
rs768668529 |
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp)
|
rs1332342693 |
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
|
rs774439464 |
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947 |
NM_001376.5(DYNC1H1):c.10754+10C>T
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372 |
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373 |
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
|
|
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)
|
rs760957660 |
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882 |
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374 |
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
|
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
|
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
|
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)
|
rs1407178236 |
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
|
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453 |
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643 |
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756 |
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760 |
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505 |
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653 |
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
|
|
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
|
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706 |
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
|
|
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
|
rs1595629239 |
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054 |
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)
|
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375 |
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=)
|
rs143642514 |
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)
|
rs771355909 |
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=)
|
rs145320071 |
NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)
|
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
|
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.11402A>C (p.Tyr3801Ser)
|
rs1595629587 |
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783 |
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro)
|
rs1595629612 |
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile)
|
|
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
|
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790 |
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.1158A>G (p.Arg386=)
|
|
NM_001376.5(DYNC1H1):c.11595+20C>T
|
|
NM_001376.5(DYNC1H1):c.11596-20G>A
|
rs372623721 |
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873 |
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
|
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro)
|
rs745812006 |
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)
|
|
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly)
|
rs1239478672 |
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
|
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519 |
NM_001376.5(DYNC1H1):c.11697C>T (p.Pro3899=)
|
rs950073137 |
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.11776G>C (p.Gly3926Arg)
|
rs879254035 |
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)
|
rs867293260 |
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
|
|
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=)
|
rs151307859 |
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515 |
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
|
|
NM_001376.5(DYNC1H1):c.11823T>G (p.Leu3941=)
|
rs368243780 |
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
|
rs1006593304 |
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
|
rs1595630600 |
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
|
|
NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=)
|
rs140543419 |
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys)
|
rs767837334 |
NM_001376.5(DYNC1H1):c.11866-4A>T
|
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
|
NM_001376.5(DYNC1H1):c.11892C>T (p.Ser3964=)
|
rs757869882 |
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
|
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn)
|
rs770525695 |
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299 |
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)
|
rs750305144 |
NM_001376.5(DYNC1H1):c.11941+2T>A
|
rs1595630836 |
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684 |
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
|
|
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
|
rs370026529 |
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.12087C>A (p.His4029Gln)
|
rs10129889 |
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
|
|
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
|
rs1451197374 |
NM_001376.5(DYNC1H1):c.12102+20C>T
|
|
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)
|
rs1595631704 |
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His)
|
rs1271427633 |
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
|
rs768853660 |
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=)
|
rs368830742 |
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
|
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196 |
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.12250A>G (p.Ile4084Val)
|
|
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.12276-17T>C
|
|
NM_001376.5(DYNC1H1):c.12276-5T>C
|
rs1555412076 |
NM_001376.5(DYNC1H1):c.12276-6G>A
|
rs1595631975 |
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
|
rs573819401 |
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)
|
rs1060499574 |
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
|
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)
|
rs1260546515 |
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
|
|
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
|
|
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=)
|
rs757449756 |
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
|
|
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=)
|
rs146075696 |
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281 |
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220 |
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)
|
rs754437318 |
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
|
rs202107738 |
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839 |
NM_001376.5(DYNC1H1):c.12513+17C>T
|
rs368189529 |
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.12588C>T (p.Tyr4196=)
|
rs749876358 |
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018 |
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=)
|
rs143936619 |
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
|
|
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=)
|
rs747207435 |
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=)
|
rs145849008 |
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=)
|
rs145849008 |
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
|
rs776972173 |
NM_001376.5(DYNC1H1):c.12684+14A>G
|
rs200392758 |
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
|
rs769593920 |
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)
|
rs1595633349 |
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
|
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293 |
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly)
|
rs770105370 |
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=)
|
rs780271275 |
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly)
|
rs1298640455 |
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.12864C>T (p.Val4288=)
|
rs1264893844 |
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
|
|
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)
|
rs1555412242 |
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376 |
NM_001376.5(DYNC1H1):c.12902+46G>A
|
rs2273440 |
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=)
|
rs151172467 |
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met)
|
rs774296708 |
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=)
|
rs766459266 |
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445 |
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=)
|
rs1566997875 |
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
|
|
NM_001376.5(DYNC1H1):c.13006+4G>A
|
rs1595633618 |
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)
|
rs747829220 |
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=)
|
rs773232010 |
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=)
|
rs181697853 |
NM_001376.5(DYNC1H1):c.13071C>T (p.Tyr4357=)
|
rs763227557 |
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132 |
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
|
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749 |
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609 |
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.13151C>T (p.Ala4384Val)
|
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075 |
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292 |
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr)
|
rs1567025279 |
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
|
rs1206639344 |
NM_001376.5(DYNC1H1):c.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.13203C>T (p.Thr4401=)
|
rs138022242 |
NM_001376.5(DYNC1H1):c.13218+18G>A
|
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650 |
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile)
|
rs1555412618 |
NM_001376.5(DYNC1H1):c.13260C>T (p.Gly4420=)
|
rs777922418 |
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
|
rs770395590 |
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg)
|
rs763724110 |
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
|
|
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
|
rs749297332 |
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042 |
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
|
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540 |
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
|
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
|
rs140033479 |
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479 |
NM_001376.5(DYNC1H1):c.13372+14C>T
|
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657 |
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903 |
NM_001376.5(DYNC1H1):c.13373-3C>G
|
rs1567025991 |
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392 |
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
|
|
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)
|
rs17541692 |
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
|
|
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.13470G>A (p.Gln4490=)
|
rs780553042 |
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
|
|
NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr)
|
rs1567026040 |
NM_001376.5(DYNC1H1):c.13497T>C (p.Gly4499=)
|
rs1555412704 |
NM_001376.5(DYNC1H1):c.13515+3G>A
|
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713 |
NM_001376.5(DYNC1H1):c.13515+9G>A
|
rs374678076 |
NM_001376.5(DYNC1H1):c.13516-10C>A
|
rs1595637656 |
NM_001376.5(DYNC1H1):c.13516-18G>C
|
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990 |
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile)
|
rs1595637702 |
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
|
|
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
|
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078 |
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
|
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469 |
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
|
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
|
rs192742245 |
NM_001376.5(DYNC1H1):c.13684+9A>G
|
rs1475798561 |
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942 |
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942 |
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del)
|
rs1013209915 |
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)
|
rs571005578 |
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys)
|
rs886050377 |
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377 |
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
|
|
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
|
|
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=)
|
rs746971715 |
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)
|
rs544608488 |
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
|
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638 |
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
|
rs765362140 |
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834 |
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
|
|
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
|
rs753454594 |
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln)
|
rs1060502205 |
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val)
|
rs1566991081 |
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala)
|
|
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
|
|
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)
|
rs200731839 |
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)
|
rs879254286 |
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
|
|
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)
|
rs781130520 |
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)
|
rs750353606 |
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=)
|
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883 |
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala)
|
|
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=)
|
rs141961494 |
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)
|
|
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn)
|
rs777919963 |
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp)
|
rs200224597 |
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=)
|
rs573332348 |
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.1461+5G>A
|
|
NM_001376.5(DYNC1H1):c.1461+5G>T
|
|
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met)
|
rs773725715 |
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
|
rs747710142 |
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)
|
rs1298953581 |
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu)
|
rs1060502209 |
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)
|
rs1057522046 |
NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=)
|
rs372404851 |
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499 |
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
|
rs1595600778 |
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906 |
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
|
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566 |
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153 |
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
|
|
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
|
|
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=)
|
rs748689506 |
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.170A>G (p.Glu57Gly)
|
|
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
|
|
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564 |
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=)
|
rs1022735666 |
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met)
|
rs760971556 |
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=)
|
rs749887344 |
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)
|
rs1383117534 |
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)
|
rs775473086 |
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
|
|
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)
|
rs140154194 |
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
|
rs758895614 |
NM_001376.5(DYNC1H1):c.2028C>T (p.His676=)
|
rs758895614 |
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.2071A>C (p.Met691Leu)
|
rs745510694 |
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=)
|
rs1555408353 |
NM_001376.5(DYNC1H1):c.2133C>T (p.Leu711=)
|
rs774360588 |
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
|
|
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His)
|
rs759802064 |
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
|
rs1595601098 |
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
|
rs1002689170 |
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566 |
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=)
|
rs577000800 |
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile)
|
rs781320162 |
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)
|
rs1358924141 |
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
|
|
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
|
|
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)
|
rs1057518083 |
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184 |
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=)
|
rs375810066 |
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
|
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile)
|
rs766014166 |
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
|
rs371431746 |
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963 |
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln)
|
rs768932305 |
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly)
|
rs751092252 |
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
|
|
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=)
|
rs145405293 |
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
|
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=)
|
rs1595601645 |
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194 |
NM_001376.5(DYNC1H1):c.257-20A>G
|
rs201905359 |
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.265G>A (p.Gly89Ser)
|
rs749973847 |
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295 |
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189 |
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
|
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
|
NM_001376.5(DYNC1H1):c.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.2768C>T (p.Thr923Met)
|
|
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=)
|
rs1277515928 |
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
|
rs1595602265 |
NM_001376.5(DYNC1H1):c.2869-3C>T
|
rs750614475 |
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
|
rs140141126 |
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
|
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
|
rs1595595758 |
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile)
|
rs1332902634 |
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894 |
NM_001376.5(DYNC1H1):c.3015+18C>T
|
rs2749894 |
NM_001376.5(DYNC1H1):c.3015+3A>G
|
rs1057522534 |
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
|
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
|
|
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624 |
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819 |
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
|
|
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser)
|
rs1060502206 |
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)
|
rs775528195 |
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys)
|
|
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
|
|
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu)
|
rs867890249 |
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
|
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961 |
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=)
|
rs752702437 |
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=)
|
rs1595605306 |
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
|
rs775900761 |
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
|
|
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
|
|
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
|
|
NM_001376.5(DYNC1H1):c.3333+23A>G
|
rs4900529 |
NM_001376.5(DYNC1H1):c.3334-4T>C
|
rs368422942 |
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)
|
|
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)
|
rs772761222 |
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met)
|
rs587780331 |
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
|
|
NM_001376.5(DYNC1H1):c.345-10T>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.355A>G (p.Ile119Val)
|
rs953641294 |
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys)
|
rs774198261 |
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215 |
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)
|
rs778273904 |
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422 |
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
|
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=)
|
rs372944247 |
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)
|
rs867503066 |
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)
|
rs749548033 |
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp)
|
|
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn)
|
rs760571415 |
NM_001376.5(DYNC1H1):c.3804+9C>T
|
rs377635872 |
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
|
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
|
|
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg)
|
rs1479995920 |
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489 |
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
|
NM_001376.5(DYNC1H1):c.3960+16G>A
|
|
NM_001376.5(DYNC1H1):c.3961-2A>G
|
rs1595608413 |
NM_001376.5(DYNC1H1):c.3961-3C>T
|
|
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
|
rs763711252 |
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.4074+11A>T
|
rs368040742 |
NM_001376.5(DYNC1H1):c.4075-5G>A
|
rs750127672 |
NM_001376.5(DYNC1H1):c.4075-6C>T
|
rs377411812 |
NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
|
|
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.4133G>A (p.Arg1378Gln)
|
|
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.4185+20C>T
|
rs74948967 |
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr)
|
rs1567006255 |
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
|
rs776226690 |
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
|
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
|
|
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.4331C>T (p.Ala1444Val)
|
rs141561289 |
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.438C>T (p.Tyr146=)
|
rs764884119 |
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531 |
NM_001376.5(DYNC1H1):c.4396-25A>G
|
rs2251644 |
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=)
|
rs756763142 |
NM_001376.5(DYNC1H1):c.4429T>C (p.Leu1477=)
|
rs555992808 |
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.4627C>T (p.Arg1543Trp)
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
|
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu)
|
rs762246186 |
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=)
|
rs377013246 |
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.4759C>G (p.Leu1587Val)
|
|
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
|
|
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.4866G>A (p.Glu1622=)
|
rs376805489 |
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
|
|
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
|
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996 |
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
|
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211 |
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
|
rs925942859 |
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
|
rs758191823 |
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.5049+15G>A
|
|
NM_001376.5(DYNC1H1):c.5049+5A>G
|
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027 |
NM_001376.5(DYNC1H1):c.5050-3C>T
|
rs372462176 |
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182 |
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val)
|
rs1555409556 |
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala)
|
|
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=)
|
rs1595611257 |
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=)
|
rs369232191 |
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=)
|
rs369232191 |
NM_001376.5(DYNC1H1):c.519-17A>G
|
|
NM_001376.5(DYNC1H1):c.519-3dup
|
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354 |
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368 |
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
|
rs1595597551 |
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr)
|
rs1555409568 |
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595 |
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
|
rs1441272851 |
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
|
|
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)
|
rs780345145 |
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
|
|
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)
|
rs144147463 |
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val)
|
rs150687712 |
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.5317G>A (p.Gly1773Arg)
|
|
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)
|
rs1346194464 |
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937 |
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
|
NM_001376.5(DYNC1H1):c.5433+17dup
|
rs140185574 |
NM_001376.5(DYNC1H1):c.5433_5433+27dup
|
rs1382359405 |
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=)
|
rs1445493379 |
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=)
|
rs762857766 |
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090 |
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs)
|
rs1555409622 |
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
|
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
|
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
|
|
NM_001376.5(DYNC1H1):c.561A>G (p.Ala187=)
|
rs774395446 |
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
|
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873 |
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
|
|
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
|
rs768520247 |
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)
|
|
NM_001376.5(DYNC1H1):c.5698C>T (p.Leu1900=)
|
rs371157224 |
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.579C>T (p.Leu193=)
|
|
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
|
|
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=)
|
rs142726284 |
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp)
|
rs1595597572 |
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287 |
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)
|
rs751526144 |
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016 |
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
|
|
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.6023T>G (p.Val2008Gly)
|
rs1595613980 |
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
|
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938 |
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
|
|
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
|
rs138702876 |
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088 |
NM_001376.5(DYNC1H1):c.6222-20C>A
|
rs200368499 |
NM_001376.5(DYNC1H1):c.6222-4C>T
|
rs1382280530 |
NM_001376.5(DYNC1H1):c.6228C>T (p.Cys2076=)
|
rs201113072 |
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)
|
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188 |
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val)
|
rs1555407906 |
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=)
|
rs778348555 |
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=)
|
rs374997831 |
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497 |
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln)
|
rs1060502207 |
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
|
rs1595614266 |
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.6405+4_6405+44del
|
|
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)
|
rs1595597624 |
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.6539A>C (p.Glu2180Ala)
|
|
NM_001376.5(DYNC1H1):c.6619-19G>A
|
rs747037096 |
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
|
|
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His)
|
rs561761105 |
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
|
|
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369 |
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile)
|
rs1595615102 |
NM_001376.5(DYNC1H1):c.6743A>G (p.Glu2248Gly)
|
|
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.6846C>T (p.His2282=)
|
rs770017263 |
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
|
|
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.6883C>G (p.Leu2295Val)
|
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
|
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile)
|
rs561339487 |
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=)
|
rs138326082 |
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
|
|
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.6997C>T (p.Leu2333Phe)
|
rs1131691358 |
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861 |
NM_001376.5(DYNC1H1):c.7014+3A>G
|
rs1426193095 |
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
|
|
NM_001376.5(DYNC1H1):c.7068G>T (p.Val2356=)
|
rs188714917 |
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile)
|
rs376456164 |
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=)
|
rs375808105 |
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
|
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
|
|
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
|
rs377242217 |
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723 |
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
|
|
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.7161G>A (p.Leu2387=)
|
|
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)
|
|
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
|
rs1595616794 |
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)
|
rs751820545 |
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226 |
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154 |
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
|
rs912429154 |
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
|
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.7225G>A (p.Ala2409Thr)
|
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720 |
NM_001376.5(DYNC1H1):c.7242+5G>A
|
rs770870431 |
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.7290C>T (p.Asn2430=)
|
rs112811548 |
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=)
|
|
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
|
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530 |
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=)
|
rs200197781 |
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
|
|
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
|
rs1595617173 |
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)
|
rs1595590120 |
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His)
|
rs1441059709 |
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=)
|
rs1221226371 |
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090 |
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=)
|
rs111459275 |
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403 |
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
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|
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=)
|
rs757950114 |
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala)
|
rs1018948570 |
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
|
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)
|
rs780160519 |
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331 |
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
|
rs1292509595 |
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly)
|
rs879253979 |
NM_001376.5(DYNC1H1):c.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.7543G>A (p.Gly2515Ser)
|
|
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
|
rs1567012503 |
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=)
|
rs747067301 |
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=)
|
rs201720217 |
NM_001376.5(DYNC1H1):c.7614+6C>T
|
rs1567012532 |
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460 |
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
|
rs368463825 |
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
|
|
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
|
rs756288729 |
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
|
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328 |
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
|
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
|
rs1595617746 |
NM_001376.5(DYNC1H1):c.7848+13G>A
|
|
NM_001376.5(DYNC1H1):c.7849-7T>G
|
|
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.7937A>T (p.Asn2646Ile)
|
|
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
|
|
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954 |
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
|
|
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg)
|
rs1555410313 |
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=)
|
rs772002773 |
NM_001376.5(DYNC1H1):c.8177+12C>T
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139 |
NM_001376.5(DYNC1H1):c.8178-19C>T
|
|
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.8216C>T (p.Pro2739Leu)
|
|
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=)
|
rs138710201 |
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
rs773460120 |
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
|
|
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
|
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510 |
NM_001376.5(DYNC1H1):c.8343+5G>A
|
rs369653555 |
NM_001376.5(DYNC1H1):c.8343+9_8343+10del
|
|
NM_001376.5(DYNC1H1):c.8344-30G>A
|
rs2180510 |
NM_001376.5(DYNC1H1):c.8344-4A>G
|
rs200913985 |
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=)
|
rs771269792 |
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=)
|
rs775490854 |
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=)
|
rs534435923 |
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp)
|
rs762494017 |
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737 |
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
|
|
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
|
rs1595597922 |
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233 |
NM_001376.5(DYNC1H1):c.8507+3A>G
|
|
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
|
|
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
|
rs774677904 |
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
|
|
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
|
|
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.8556G>A (p.Thr2852=)
|
rs370808839 |
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)
|
|
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
|
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156 |
NM_001376.5(DYNC1H1):c.8638-7T>C
|
rs201446705 |
NM_001376.5(DYNC1H1):c.8638-7dup
|
|
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=)
|
rs758989267 |
NM_001376.5(DYNC1H1):c.8772-13C>T
|
|
NM_001376.5(DYNC1H1):c.8772-7G>A
|
rs758936427 |
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029 |
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370 |
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=)
|
rs34287672 |
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+13G>A
|
rs17541317 |
NM_001376.5(DYNC1H1):c.8886+4C>T
|
rs1349379812 |
NM_001376.5 |