NC_000007.14:g.30594642G>A
|
|
NC_000007.14:g.76302657C>T
|
|
NC_000008.11:g.24956698G>C
|
|
NM_000166.6(GJB1):c.*117C>T
|
rs41307256 |
NM_000166.6(GJB1):c.*163G>T
|
rs139775308 |
NM_000166.6(GJB1):c.*309G>A
|
|
NM_000166.6(GJB1):c.*34C>A
|
rs113014279 |
NM_000166.6(GJB1):c.-6G>A
|
rs201344743 |
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326 |
NM_000304.4(PMP22):c.*173C>T
|
rs117277951 |
NM_000304.4(PMP22):c.*200T>G
|
|
NM_000304.4(PMP22):c.*376C>T
|
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422 |
NM_000304.4(PMP22):c.*890C>T
|
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440 |
NM_000304.4(PMP22):c.-74A>G
|
rs114365663 |
NM_000304.4(PMP22):c.-86A>C
|
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521 |
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419 |
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989 |
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.*874A>G
|
rs61865882 |
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133 |
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658 |
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057 |
NM_000530.8(MPZ):c.*195G>T
|
rs150182811 |
NM_000530.8(MPZ):c.*360C>G
|
|
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.*743C>T
|
rs140992541 |
NM_000530.8(MPZ):c.*761A>G
|
rs16832786 |
NM_000530.8(MPZ):c.*901_*902GA[7]
|
rs149030537 |
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790 |
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129 |
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
NM_001005360.2(DNM2):c.*10G>A
|
rs200188660 |
NM_001005360.2(DNM2):c.*14C>T
|
rs369529119 |
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.*453C>T
|
rs200104482 |
NM_001005360.2(DNM2):c.*47G>A
|
rs367938944 |
NM_001005360.2(DNM2):c.*601C>T
|
rs185820576 |
NM_001005360.2(DNM2):c.*607G>A
|
rs117954916 |
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216 |
NM_001005360.2(DNM2):c.1335+13C>T
|
rs150975494 |
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.1423-12G>A
|
rs376753915 |
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905 |
NM_001005360.2(DNM2):c.162-7C>A
|
rs148318860 |
NM_001005360.2(DNM2):c.1782-11C>T
|
rs78580529 |
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919 |
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390 |
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657 |
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.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.236-8C>G
|
rs143084059 |
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687 |
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382 |
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669 |
NM_001005360.2(DNM2):c.2543+7C>G
|
rs201979143 |
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590 |
NM_001005360.2(DNM2):c.450A>G (p.Pro150=)
|
rs766121627 |
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.555C>T (p.Asp185=)
|
rs140788791 |
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674 |
NM_001005360.2(DNM2):c.882G>A (p.Pro294=)
|
rs144790170 |
NM_001005360.2(DNM2):c.890G>A (p.Arg297His)
|
rs763894364 |
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209 |
NM_001005361.3(DNM2):c.*321A>G
|
|
NM_001005361.3(DNM2):c.*671T>C
|
|
NM_001005361.3(DNM2):c.1196+710G>A
|
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103 |
NM_001005361.3(DNM2):c.1671+14G>A
|
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920 |
NM_001135242.2(NDRG1):c.64-6T>C
|
rs2272653 |
NM_001136473.1(LITAF):c.*1029G>A
|
rs192766322 |
NM_001136473.1(LITAF):c.*1058C>T
|
rs75472256 |
NM_001136473.1(LITAF):c.*1376A>G
|
rs7102 |
NM_001136473.1(LITAF):c.*1540C>A
|
rs80119580 |
NM_001136473.1(LITAF):c.*1618T>G
|
rs77423500 |
NM_001136473.1(LITAF):c.*1752G>A
|
rs62022848 |
NM_001136473.1(LITAF):c.*1757C>G
|
|
NM_001136473.1(LITAF):c.*224C>T
|
rs149712652 |
NM_001136473.1(LITAF):c.*268C>T
|
rs1801977 |
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.*836G>T
|
rs117082330 |
NM_001136473.1(LITAF):c.*921T>C
|
rs1198 |
NM_001136473.1(LITAF):c.*941T>A
|
rs7187810 |
NM_001136473.1(LITAF):c.-6+558C>T
|
rs528624227 |
NM_001136473.1(LITAF):c.-6+594A>G
|
rs12921437 |
NM_001136473.1(LITAF):c.234G>A (p.Thr78=)
|
rs9282774 |
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
NM_001136473.1(LITAF):c.333C>T (p.Ala111=)
|
rs34448402 |
NM_001136473.1(LITAF):c.357C>T (p.Cys119=)
|
rs549492447 |
NM_001243571.2(MTMR2):c.-404+13C>T
|
rs139510268 |
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln)
|
rs61735578 |
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=)
|
rs566204 |
NM_001282625.2(LMNA):c.-206-17C>T
|
|
NM_001316772.1(GARS1):c.-231T>A
|
rs527307703 |
NM_001316772.1(GARS1):c.-339T>C
|
rs78980639 |
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901 |
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996 |
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436 |
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858 |
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505 |
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783 |
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519 |
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238 |
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889 |
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196 |
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468 |
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412 |
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749 |
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650 |
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657 |
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903 |
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906 |
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054 |
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082 |
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657 |
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215 |
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489 |
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957 |
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531 |
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188 |
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437 |
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258 |
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211 |
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439 |
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088 |
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188 |
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439 |
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830 |
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720 |
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734 |
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.7463G>A (p.Arg2488His)
|
rs149581331 |
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179 |
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460 |
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317 |
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870 |
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174 |
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872 |
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956 |
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217 |
NM_001540.5(HSPB1):c.365-7C>T
|
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859 |
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
|
NM_001605.2(AARS1):c.*251A>C
|
rs116553521 |
NM_001605.2(AARS1):c.*74A>T
|
rs11537663 |
NM_001605.2(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712 |
NM_001605.2(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667 |
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688 |
NM_001605.2(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731 |
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047 |
NM_001605.2(AARS1):c.1672-4T>A
|
rs187509039 |
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156 |
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804 |
NM_001605.2(AARS1):c.2521-3C>T
|
rs200586605 |
NM_001605.2(AARS1):c.2608-6C>A
|
rs200965527 |
NM_001605.2(AARS1):c.2715T>C (p.Val905=)
|
rs4081753 |
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346 |
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709 |
NM_001605.2(AARS1):c.561C>T (p.Cys187=)
|
rs78523270 |
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410 |
NM_001605.2(AARS1):c.671+3A>G
|
rs74024185 |
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552 |
NM_001605.2(AARS1):c.741G>A (p.Leu247=)
|
rs148075561 |
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667 |
NM_001605.2(AARS1):c.903C>T (p.His301=)
|
rs2070203 |
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121 |
NM_001605.3(AARS1):c.*141A>G
|
|
NM_002047.3(GARS):c.-205C>T
|
rs17159262 |
NM_002047.3(GARS):c.-217A>G
|
rs2970504 |
NM_002047.3(GARS):c.-225G>A
|
rs148593022 |
NM_002047.3(GARS):c.-317G>A
|
rs116125961 |
NM_002047.4(GARS1):c.*67C>G
|
rs142498676 |
NM_002047.4(GARS1):c.*73A>G
|
rs113598818 |
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556 |
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502 |
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287 |
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572 |
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402 |
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280 |
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065 |
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641 |
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270 |
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401 |
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593 |
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236 |
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770 |
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310 |
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438 |
NM_003001.3(SDHC):c.-38G>A
|
rs112556972 |
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598 |
NM_003680.3(YARS1):c.*138G>A
|
rs41265857 |
NM_003680.3(YARS1):c.*21C>A
|
rs149812692 |
NM_003680.3(YARS1):c.*284A>G
|
rs150690731 |
NM_003680.3(YARS1):c.*293A>G
|
rs16866009 |
NM_003680.3(YARS1):c.*386G>T
|
rs144131403 |
NM_003680.3(YARS1):c.*439T>C
|
rs184249741 |
NM_003680.3(YARS1):c.*680A>G
|
rs536402126 |
NM_003680.3(YARS1):c.*681T>G
|
rs78319035 |
NM_003680.3(YARS1):c.-129C>A
|
|
NM_003680.3(YARS1):c.-188G>T
|
|
NM_003680.3(YARS1):c.-245T>C
|
|
NM_003680.3(YARS1):c.-283G>A
|
rs113748028 |
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599 |
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
|
rs752514117 |
NM_003680.3(YARS1):c.1141-9C>G
|
rs761211081 |
NM_003680.3(YARS1):c.1218G>C (p.Leu406=)
|
rs699005 |
NM_003680.3(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022 |
NM_003680.3(YARS1):c.1275C>T (p.Asn425=)
|
rs778718842 |
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809 |
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
|
|
NM_003680.3(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410 |
NM_003680.3(YARS1):c.415G>A (p.Val139Met)
|
rs772729857 |
NM_003680.3(YARS1):c.52C>T (p.Leu18=)
|
rs147538442 |
NM_003680.3(YARS1):c.57+14G>T
|
rs72654020 |
NM_003680.3(YARS1):c.60G>A (p.Glu20=)
|
rs143712443 |
NM_004637.5(RAB7A):c.*1374G>A
|
rs539522952 |
NM_004637.5(RAB7A):c.*163T>G
|
rs182521602 |
NM_004637.5(RAB7A):c.*189A>G
|
rs11549750 |
NM_004637.5(RAB7A):c.*206G>A
|
rs16851333 |
NM_004637.5(RAB7A):c.*625T>C
|
rs545004919 |
NM_004637.5(RAB7A):c.*863C>G
|
rs59753334 |
NM_004637.5(RAB7A):c.*997T>C
|
rs3755593 |
NM_004637.5(RAB7A):c.-115C>T
|
rs374777610 |
NM_004637.5(RAB7A):c.-215C>T
|
rs560785742 |
NM_004637.5(RAB7A):c.-29G>T
|
rs112000804 |
NM_004637.5(RAB7A):c.-97C>G
|
rs141622970 |
NM_004637.5(RAB7A):c.219C>T (p.Leu73=)
|
rs4548 |
NM_004637.5(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751 |
NM_004637.5(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121 |
NM_004637.5(RAB7A):c.87G>A (p.Val29=)
|
rs145441548 |
NM_004637.6(RAB7A):c.*229C>T
|
|
NM_004637.6(RAB7A):c.*846A>G
|
|
NM_006096.3(NDRG1):c.*100G>A
|
rs2233348 |
NM_006096.3(NDRG1):c.*1135G>A
|
rs10675 |
NM_006096.3(NDRG1):c.*1294T>C
|
rs144034977 |
NM_006096.3(NDRG1):c.*691G>A
|
rs1049694 |
NM_006096.3(NDRG1):c.*69C>T
|
rs114738844 |
NM_006096.3(NDRG1):c.*711C>T
|
rs16904866 |
NM_006096.3(NDRG1):c.*834T>A
|
rs79281324 |
NM_006096.3(NDRG1):c.*866A>T
|
rs16904865 |
NM_006096.3(NDRG1):c.*956T>C
|
rs1049697 |
NM_006096.3(NDRG1):c.-120C>T
|
rs11575971 |
NM_006096.3(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319 |
NM_006096.3(NDRG1):c.755+10T>C
|
rs2233336 |
NM_006096.3(NDRG1):c.756-5C>T
|
rs2227262 |
NM_006096.3(NDRG1):c.892-5C>T
|
rs2233346 |
NM_006158.4(NEFL):c.*101A>G
|
rs34505194 |
NM_006158.4(NEFL):c.*1344G>A
|
rs79034217 |
NM_006158.4(NEFL):c.*1806T>C
|
rs192937928 |
NM_006158.4(NEFL):c.*244A>G
|
rs78869168 |
NM_006158.4(NEFL):c.*486T>G
|
rs562682645 |
NM_006158.4(NEFL):c.*82T>A
|
rs148654058 |
NM_006158.4(NEFL):c.*878A>G
|
rs189452316 |
NM_006158.4(NEFL):c.-176C>A
|
rs2979688 |
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321 |
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919 |
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522 |
NM_006158.5(NEFL):c.*1293A>G
|
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297 |
NM_006329.3(FBLN5):c.*326G>A
|
rs79375113 |
NM_006329.3(FBLN5):c.*329T>C
|
rs115237925 |
NM_006329.3(FBLN5):c.*514A>G
|
rs17804735 |
NM_006329.3(FBLN5):c.*623A>T
|
rs77357345 |
NM_006329.3(FBLN5):c.-152C>T
|
rs139387007 |
NM_006329.3(FBLN5):c.-414C>T
|
rs7149187 |
NM_006329.3(FBLN5):c.-458G>A
|
rs369441736 |
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=)
|
rs145515678 |
NM_006329.3(FBLN5):c.502+15G>C
|
rs190933127 |
NM_006329.3(FBLN5):c.863-13C>T
|
rs74071606 |
NM_006329.3(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347 |
NM_006329.3(FBLN5):c.989+13G>A
|
rs74071605 |
NM_014365.2(HSPB8):c.*440C>G
|
rs13378054 |
NM_014365.2(HSPB8):c.*581G>A
|
rs56754798 |
NM_014365.2(HSPB8):c.*616C>G
|
rs6413487 |
NM_014365.2(HSPB8):c.*616C>T
|
rs6413487 |
NM_014365.2(HSPB8):c.*644A>G
|
rs11038 |
NM_014365.2(HSPB8):c.*684G>A
|
rs1133026 |
NM_014365.2(HSPB8):c.-193T>C
|
rs11549401 |
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535 |
NM_014365.2(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028 |
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935 |
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454 |
NM_014365.2(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602 |
NM_014365.2(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742 |
NM_014845.5(FIG4):c.*120C>T
|
rs1127775 |
NM_014845.5(FIG4):c.*14C>T
|
rs114136062 |
NM_014845.5(FIG4):c.*29G>A
|
rs10659 |
NM_014845.5(FIG4):c.*7C>T
|
rs113946190 |
NM_014845.5(FIG4):c.-120C>T
|
rs75045314 |
NM_014845.5(FIG4):c.-121G>A
|
rs75509752 |
NM_014845.5(FIG4):c.-182G>A
|
rs55873083 |
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837 |
NM_014845.5(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087 |
NM_014845.5(FIG4):c.1948+3A>G
|
rs10499054 |
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672 |
NM_014845.5(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771 |
NM_014845.5(FIG4):c.27C>T (p.Ile9=)
|
rs141040807 |
NM_014845.5(FIG4):c.66+10C>T
|
rs200063827 |
NM_014845.5(FIG4):c.67-7T>C
|
rs56378532 |
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092 |
NM_014874.3(MFN2):c.*1100A>G
|
rs41278638 |
NM_014874.3(MFN2):c.*1161C>A
|
rs115706485 |
NM_014874.3(MFN2):c.*1258G>A
|
rs116156978 |
NM_014874.3(MFN2):c.*1488C>T
|
rs11554507 |
NM_014874.3(MFN2):c.*1546G>A
|
rs3737960 |
NM_014874.3(MFN2):c.*1562G>A
|
rs551566332 |
NM_014874.3(MFN2):c.*1576C>T
|
rs78523898 |
NM_014874.3(MFN2):c.*1706T>G
|
rs543365043 |
NM_014874.3(MFN2):c.*231G>A
|
rs41278636 |
NM_014874.3(MFN2):c.*58A>G
|
rs1042842 |
NM_014874.3(MFN2):c.*730C>T
|
rs112550280 |
NM_014874.3(MFN2):c.*777T>C
|
rs112854268 |
NM_014874.3(MFN2):c.*896G>C
|
rs3088064 |
NM_014874.3(MFN2):c.*912C>T
|
rs14305 |
NM_014874.3(MFN2):c.-161G>A
|
rs140094248 |
NM_014874.3(MFN2):c.-212T>C
|
rs2180183 |
NM_014874.3(MFN2):c.-249T>A
|
rs2180182 |
NM_014874.3(MFN2):c.-287C>T
|
rs2180181 |
NM_014874.3(MFN2):c.-367A>G
|
rs2236054 |
NM_014874.3(MFN2):c.-4-13G>T
|
rs373679523 |
NM_014874.3(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585 |
NM_014874.3(MFN2):c.1495+9C>T
|
rs375494746 |
NM_014874.3(MFN2):c.150C>A (p.Ile50=)
|
rs78841746 |
NM_014874.3(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837 |
NM_014874.3(MFN2):c.165C>T (p.Thr55=)
|
rs77458527 |
NM_014874.3(MFN2):c.176-7C>T
|
rs374055101 |
NM_014874.3(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244 |
NM_014874.3(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935 |
NM_014874.3(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012 |
NM_014874.3(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424 |
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930 |
NM_014874.3(MFN2):c.2204+15T>C
|
rs77262016 |
NM_014874.3(MFN2):c.2205-13C>A
|
rs76020240 |
NM_014874.3(MFN2):c.474+4A>G
|
rs141974160 |
NM_014874.3(MFN2):c.522T>C (p.His174=)
|
rs762789747 |
NM_014874.3(MFN2):c.744C>T (p.Leu248=)
|
rs61733205 |
NM_014874.3(MFN2):c.891C>T (p.Ala297=)
|
rs11554508 |
NM_014874.3(MFN2):c.957C>T (p.Gly319=)
|
rs41278632 |
NM_014874.3(MFN2):c.975C>T (p.Gly325=)
|
rs141475476 |
NM_014874.4(MFN2):c.*1034C>T
|
|
NM_014874.4(MFN2):c.*1830C>T
|
|
NM_014874.4(MFN2):c.*226C>T
|
|
NM_014874.4(MFN2):c.*26G>A
|
|
NM_014874.4(MFN2):c.*304A>G
|
|
NM_014874.4(MFN2):c.-80C>T
|
|
NM_016156.5(MTMR2):c.*1066T>C
|
rs16922622 |
NM_016156.5(MTMR2):c.*1226_*1228del
|
rs142663762 |
NM_016156.5(MTMR2):c.*1396C>T
|
rs16922615 |
NM_016156.5(MTMR2):c.*1419G>A
|
rs496305 |
NM_016156.5(MTMR2):c.*1444C>G
|
rs149223349 |
NM_016156.5(MTMR2):c.*1568C>T
|
rs596277 |
NM_016156.5(MTMR2):c.*1934T>C
|
rs525404 |
NM_016156.5(MTMR2):c.*1952G>A
|
rs118033833 |
NM_016156.5(MTMR2):c.*2014T>G
|
rs112404010 |
NM_016156.5(MTMR2):c.*2406C>T
|
rs16922613 |
NM_016156.5(MTMR2):c.*549G>A
|
rs611020 |
NM_016156.5(MTMR2):c.*85A>C
|
rs578159 |
NM_016156.5(MTMR2):c.*987T>C
|
rs57807625 |
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932 |
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678 |
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577 |
NM_016156.5(MTMR2):c.186+5624TTTTA[6]
|
rs112378876 |
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874 |
NM_018972.4(GDAP1):c.*1173G>T
|
rs72665430 |
NM_018972.4(GDAP1):c.*1429A>G
|
rs78545774 |
NM_018972.4(GDAP1):c.*1647C>T
|
rs115466662 |
NM_018972.4(GDAP1):c.*1855A>G
|
rs6472842 |
NM_018972.4(GDAP1):c.*1878G>T
|
rs16938896 |
NM_018972.4(GDAP1):c.*2214A>G
|
rs10504580 |
NM_018972.4(GDAP1):c.*2244T>C
|
|
NM_018972.4(GDAP1):c.*2463A>G
|
rs9643686 |
NM_018972.4(GDAP1):c.*357A>G
|
rs1135715 |
NM_018972.4(GDAP1):c.*561C>G
|
rs80136809 |
NM_018972.4(GDAP1):c.*61C>T
|
|
NM_018972.4(GDAP1):c.*797A>G
|
rs7007283 |
NM_018972.4(GDAP1):c.*830C>G
|
rs4737414 |
NM_018972.4(GDAP1):c.*920C>G
|
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166 |
NM_020956.2(PRX):c.*1256C>T
|
rs73933276 |
NM_020956.2(PRX):c.*1486C>T
|
rs76960467 |
NM_020956.2(PRX):c.*1688G>C
|
rs146789340 |
NM_020956.2(PRX):c.*1830G>A
|
rs139586219 |
NM_020956.2(PRX):c.*2169C>T
|
rs118003416 |
NM_020956.2(PRX):c.*2222A>G
|
rs61735531 |
NM_020956.2(PRX):c.*2306G>A
|
rs116855701 |
NM_020956.2(PRX):c.*2674G>A
|
rs61733450 |
NM_020956.2(PRX):c.*2850T>C
|
rs268671 |
NM_020956.2(PRX):c.*2860T>C
|
rs268672 |
NM_020956.2(PRX):c.*2932C>T
|
rs61735546 |
NM_020956.2(PRX):c.*2968A>G
|
rs268673 |
NM_020956.2(PRX):c.*3423A>G
|
rs61733451 |
NM_020956.2(PRX):c.*3453C>G
|
rs3745202 |
NM_020956.2(PRX):c.*3599G>A
|
rs268674 |
NM_020956.2(PRX):c.*3907C>T
|
rs139950446 |
NM_020956.2(PRX):c.*4051G>A
|
rs143289108 |
NM_020956.2(PRX):c.*4249G>C
|
rs76088917 |
NM_020956.2(PRX):c.*676G>A
|
rs4803335 |
NM_020956.2(PRX):c.*759G>A
|
rs76756143 |
NM_020956.2(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201 |
NM_020956.2(PRX):c.306C>T (p.Thr102=)
|
rs744389 |
NM_021625.4(TRPV4):c.*230G>A
|
rs181542514 |
NM_021625.4(TRPV4):c.*365C>T
|
rs184413363 |
NM_021625.4(TRPV4):c.*378G>C
|
rs538255561 |
NM_021625.4(TRPV4):c.*423G>A
|
rs151286044 |
NM_021625.4(TRPV4):c.*486T>C
|
rs79157363 |
NM_021625.4(TRPV4):c.1153-10C>T
|
rs149541389 |
NM_021625.4(TRPV4):c.1341C>T (p.His447=)
|
rs57316123 |
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022 |
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950 |
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892 |
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611 |
NM_021625.4(TRPV4):c.1824+4C>T
|
rs147259744 |
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037 |
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623 |
NM_021625.4(TRPV4):c.2459-9T>G
|
rs115373018 |
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946 |
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855 |
NM_021625.4(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423 |
NM_021625.4(TRPV4):c.387-4C>T
|
rs12305439 |
NM_021625.4(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793 |
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030 |
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727 |
NM_021625.4(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394 |
NM_021625.4(TRPV4):c.712+10C>T
|
rs115657305 |
NM_021625.4(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034 |
NM_021625.4(TRPV4):c.795C>T (p.His265=)
|
rs1344554 |
NM_021625.4(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344 |
NM_021625.4(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967 |
NM_021625.4(TRPV4):c.854-5C>T
|
rs116401333 |
NM_021625.5(TRPV4):c.*190C>T
|
|
NM_022753.4(S100PBP):c.-120+178C>T
|
|
NM_022753.4(S100PBP):c.-120+19G>A
|
rs534491159 |
NM_022753.4(S100PBP):c.-120+217C>T
|
rs112104823 |
NM_022753.4(S100PBP):c.-120+238G>A
|
rs72654022 |
NM_022753.4(S100PBP):c.-120+293G>C
|
rs3737251 |
NM_022753.4(S100PBP):c.-120+296G>A
|
rs547181978 |
NM_022753.4(S100PBP):c.-120+94C>A
|
rs114349735 |
NM_022753.4(S100PBP):c.-123G>A
|
rs115959445 |
NM_022753.4(S100PBP):c.-128C>T
|
rs537314587 |
NM_024577.3(SH3TC2):c.*10099A>T
|
rs570266229 |
NM_024577.3(SH3TC2):c.*10101C>T
|
rs552099019 |
NM_024577.3(SH3TC2):c.*10120C>A
|
rs13355933 |
NM_024577.3(SH3TC2):c.*10485G>A
|
rs76931184 |
NM_024577.3(SH3TC2):c.*10767G>A
|
rs139720866 |
NM_024577.3(SH3TC2):c.*10968G>A
|
rs13166730 |
NM_024577.3(SH3TC2):c.*11120G>A
|
rs2069087 |
NM_024577.3(SH3TC2):c.*11390A>G
|
rs3213854 |
NM_024577.3(SH3TC2):c.*11852G>T
|
rs13359285 |
NM_024577.3(SH3TC2):c.*122G>T
|
rs114151926 |
NM_024577.3(SH3TC2):c.*12969C>A
|
rs76955068 |
NM_024577.3(SH3TC2):c.*1309C>T
|
rs1007401 |
NM_024577.3(SH3TC2):c.*13514A>G
|
rs78516040 |
NM_024577.3(SH3TC2):c.*14411G>A
|
rs143623684 |
NM_024577.3(SH3TC2):c.*14562G>A
|
rs17109198 |
NM_024577.3(SH3TC2):c.*14621G>T
|
rs17795097 |
NM_024577.3(SH3TC2):c.*14766T>A
|
rs891919 |
NM_024577.3(SH3TC2):c.*14856C>A
|
rs891920 |
NM_024577.3(SH3TC2):c.*14894G>A
|
rs17109192 |
NM_024577.3(SH3TC2):c.*15061C>T
|
rs115722370 |
NM_024577.3(SH3TC2):c.*15823T>C
|
rs4562031 |
NM_024577.3(SH3TC2):c.*16020A>C
|
rs4543254 |
NM_024577.3(SH3TC2):c.*1639T>C
|
rs1007400 |
NM_024577.3(SH3TC2):c.*16631G>A
|
rs4705303 |
NM_024577.3(SH3TC2):c.*16950T>C
|
rs10040798 |
NM_024577.3(SH3TC2):c.*17036C>G
|
rs75086059 |
NM_024577.3(SH3TC2):c.*17317G>A
|
rs78254952 |
NM_024577.3(SH3TC2):c.*17703A>G
|
rs4235739 |
NM_024577.3(SH3TC2):c.*17903A>G
|
rs76444127 |
NM_024577.3(SH3TC2):c.*18299C>T
|
rs147903089 |
NM_024577.3(SH3TC2):c.*18554G>T
|
rs10040598 |
NM_024577.3(SH3TC2):c.*19040A>G
|
rs930205 |
NM_024577.3(SH3TC2):c.*1909G>T
|
rs998304 |
NM_024577.3(SH3TC2):c.*19270G>A
|
rs149188140 |
NM_024577.3(SH3TC2):c.*1935T>C
|
rs6883926 |
NM_024577.3(SH3TC2):c.*19406A>T
|
rs72835351 |
NM_024577.3(SH3TC2):c.*19519G>A
|
rs10039839 |
NM_024577.3(SH3TC2):c.*19564dup
|
rs5872105 |
NM_024577.3(SH3TC2):c.*19573G>A
|
rs4560536 |
NM_024577.3(SH3TC2):c.*19919T>C
|
rs2217638 |
NM_024577.3(SH3TC2):c.*20166T>A
|
rs17795091 |
NM_024577.3(SH3TC2):c.*20463T>C
|
rs77021631 |
NM_024577.3(SH3TC2):c.*2397G>A
|
rs17722155 |
NM_024577.3(SH3TC2):c.*2428C>T
|
rs149384180 |
NM_024577.3(SH3TC2):c.*2862G>A
|
rs116548620 |
NM_024577.3(SH3TC2):c.*2900G>T
|
rs3763019 |
NM_024577.3(SH3TC2):c.*2956C>T
|
rs3763020 |
NM_024577.3(SH3TC2):c.*3077C>T
|
rs1045942 |
NM_024577.3(SH3TC2):c.*3136G>A
|
rs1019927 |
NM_024577.3(SH3TC2):c.*3196T>C
|
rs3763022 |
NM_024577.3(SH3TC2):c.*3694T>A
|
rs115774169 |
NM_024577.3(SH3TC2):c.*3860G>A
|
rs1432797 |
NM_024577.3(SH3TC2):c.*391G>C
|
rs117139060 |
NM_024577.3(SH3TC2):c.*4555A>G
|
rs117287440 |
NM_024577.3(SH3TC2):c.*4719C>G
|
rs6885467 |
NM_024577.3(SH3TC2):c.*47C>T
|
rs79738100 |
NM_024577.3(SH3TC2):c.*5490G>A
|
rs1432795 |
NM_024577.3(SH3TC2):c.*5799C>T
|
rs17109208 |
NM_024577.3(SH3TC2):c.*5999G>A
|
rs79866394 |
NM_024577.3(SH3TC2):c.*6051G>A
|
rs146293131 |
NM_024577.3(SH3TC2):c.*6162C>T
|
rs17795115 |
NM_024577.3(SH3TC2):c.*6242A>G
|
rs142279453 |
NM_024577.3(SH3TC2):c.*6436G>T
|
rs11168079 |
NM_024577.3(SH3TC2):c.*6510G>A
|
rs116056843 |
NM_024577.3(SH3TC2):c.*6623G>A
|
rs78100143 |
NM_024577.3(SH3TC2):c.*6692A>G
|
rs11168078 |
NM_024577.3(SH3TC2):c.*719G>A
|
rs10050933 |
NM_024577.3(SH3TC2):c.*7292C>T
|
rs1347130 |
NM_024577.3(SH3TC2):c.*8053G>A
|
rs115027318 |
NM_024577.3(SH3TC2):c.*8248G>C
|
rs56309414 |
NM_024577.3(SH3TC2):c.*8756G>T
|
rs7733177 |
NM_024577.3(SH3TC2):c.*929G>C
|
rs1432798 |
NM_024577.3(SH3TC2):c.1177+10G>A
|
rs139257109 |
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793 |
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227 |
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276 |
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902 |
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630 |
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794 |
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261 |
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278 |
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193 |
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753 |
NM_024577.3(SH3TC2):c.2872+9G>A
|
rs76488338 |
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308 |
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884 |
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291 |
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803 |
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030 |
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030 |
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174 |
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155 |
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293 |
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653 |
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512 |
NM_024577.4(SH3TC2):c.*10614G>A
|
|
NM_024577.4(SH3TC2):c.*11604G>A
|
|
NM_024577.4(SH3TC2):c.*12190G>A
|
|
NM_024577.4(SH3TC2):c.*1246G>A
|
|
NM_024577.4(SH3TC2):c.*14750A>G
|
|
NM_024577.4(SH3TC2):c.*18699T>G
|
|
NM_024577.4(SH3TC2):c.*20207C>T
|
|
NM_024577.4(SH3TC2):c.*2237G>A
|
|
NM_024577.4(SH3TC2):c.*3246A>C
|
|
NM_024577.4(SH3TC2):c.*39A>C
|
|
NM_024577.4(SH3TC2):c.*4603C>T
|
|
NM_024577.4(SH3TC2):c.*4638A>T
|
|
NM_024577.4(SH3TC2):c.*6392C>T
|
|
NM_024577.4(SH3TC2):c.*7251A>G
|
|
NM_024577.4(SH3TC2):c.*7451C>T
|
|
NM_024577.4(SH3TC2):c.*9504G>A
|
|
NM_030962.3(SBF2):c.*1144A>G
|
rs3751001 |
NM_030962.3(SBF2):c.*1364C>T
|
rs10118 |
NM_030962.3(SBF2):c.*1399T>C
|
rs60154961 |
NM_030962.3(SBF2):c.*1413A>G
|
rs59613534 |
NM_030962.3(SBF2):c.*1515G>A
|
rs1045634 |
NM_030962.3(SBF2):c.*1619A>C
|
rs360126 |
NM_030962.3(SBF2):c.*177A>C
|
rs192542785 |
NM_030962.3(SBF2):c.*291C>T
|
rs114604750 |
NM_030962.3(SBF2):c.*40A>C
|
rs3751000 |
NM_030962.3(SBF2):c.*514C>T
|
rs3829252 |
NM_030962.3(SBF2):c.*51T>C
|
rs41275194 |
NM_030962.3(SBF2):c.-118G>T
|
rs563422015 |
NM_030962.3(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805 |
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys)
|
rs7102464 |
NM_030962.3(SBF2):c.2850C>T (p.Ile950=)
|
rs74642088 |
NM_030962.3(SBF2):c.3111-6T>C
|
rs16907139 |
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652 |
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508 |
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577 |
NM_030962.3(SBF2):c.4571-6C>T
|
rs2645029 |
NM_030962.3(SBF2):c.4933-15T>C
|
rs75447733 |
NM_030962.3(SBF2):c.645T>C (p.Phe215=)
|
rs148187321 |
NM_030962.3(SBF2):c.909C>T (p.Pro303=)
|
rs16907355 |
NM_030962.3(SBF2):c.93T>C (p.Phe31=)
|
rs200263159 |
NM_138361.5(LRSAM1):c.*57G>A
|
rs549468112 |
NM_138361.5(LRSAM1):c.-575C>T
|
rs116498902 |
NM_138361.5(LRSAM1):c.1044-9T>C
|
rs59501881 |
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=)
|
rs34426300 |
NM_138361.5(LRSAM1):c.1830+6C>T
|
rs75171318 |
NM_138361.5(LRSAM1):c.1912+5A>C
|
rs2248822 |
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088 |
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906 |
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127 |
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855 |
NM_138361.5(LRSAM1):c.619+13C>T
|
rs148704769 |
NM_138361.5(LRSAM1):c.904-9C>T
|
rs1539568 |
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567 |
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300 |
NM_139241.3(FGD4):c.*1007G>A
|
rs114843464 |
NM_139241.3(FGD4):c.*1068A>G
|
rs537833755 |
NM_139241.3(FGD4):c.*1133A>C
|
rs10844268 |
NM_139241.3(FGD4):c.*1148C>T
|
rs56110646 |
NM_139241.3(FGD4):c.*1454A>G
|
rs7964947 |
NM_139241.3(FGD4):c.*1492T>G
|
rs7980205 |
NM_139241.3(FGD4):c.*1564T>C
|
|
NM_139241.3(FGD4):c.*1723C>T
|
rs4931030 |
NM_139241.3(FGD4):c.*1828A>T
|
rs4931031 |
NM_139241.3(FGD4):c.*1954A>G
|
rs1239829 |
NM_139241.3(FGD4):c.*2203T>C
|
rs41276678 |
NM_139241.3(FGD4):c.*22G>A
|
rs114284024 |
NM_139241.3(FGD4):c.*2537C>A
|
rs115173894 |
NM_139241.3(FGD4):c.*27G>A
|
|
NM_139241.3(FGD4):c.*290G>A
|
rs79732949 |
NM_139241.3(FGD4):c.*2928_*2931del
|
rs549931906 |
NM_139241.3(FGD4):c.*3130G>A
|
rs73087441 |
NM_139241.3(FGD4):c.*3130G>T
|
rs73087441 |
NM_139241.3(FGD4):c.*3148del
|
rs797002948 |
NM_139241.3(FGD4):c.*3340A>C
|
rs75320947 |
NM_139241.3(FGD4):c.*3630T>C
|
rs73313005 |
NM_139241.3(FGD4):c.*3770G>T
|
rs11052123 |
NM_139241.3(FGD4):c.*4063A>G
|
rs62642552 |
NM_139241.3(FGD4):c.*4128C>T
|
rs12312970 |
NM_139241.3(FGD4):c.*4192G>T
|
|
NM_139241.3(FGD4):c.*4211T>C
|
rs75583772 |
NM_139241.3(FGD4):c.*4369dup
|
rs35874340 |
NM_139241.3(FGD4):c.*4438A>G
|
rs11052124 |
NM_139241.3(FGD4):c.*4454G>A
|
rs147515673 |
NM_139241.3(FGD4):c.*4652T>C
|
rs16920125 |
NM_139241.3(FGD4):c.*4956T>A
|
rs149215917 |
NM_139241.3(FGD4):c.*4988G>A
|
|
NM_139241.3(FGD4):c.*4991A>G
|
rs1239830 |
NM_139241.3(FGD4):c.*5198G>A
|
rs1133509 |
NM_139241.3(FGD4):c.*792A>T
|
rs140601094 |
NM_139241.3(FGD4):c.-246G>C
|
rs77113168 |
NM_139241.3(FGD4):c.-433C>T
|
rs11052033 |
NM_139241.3(FGD4):c.1059C>T (p.Pro353=)
|
rs16920084 |
NM_139241.3(FGD4):c.1305G>A (p.Arg435=)
|
rs10844253 |
NM_139241.3(FGD4):c.1339-12C>T
|
rs73083501 |
NM_139241.3(FGD4):c.1515T>C (p.Ser505=)
|
rs60803891 |
NM_139241.3(FGD4):c.1518G>A (p.Ala506=)
|
rs11052110 |
NM_139241.3(FGD4):c.1636-7T>C
|
rs11052113 |
NM_139241.3(FGD4):c.1659C>G (p.Ala553=)
|
rs188104446 |
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu)
|
rs904582 |
NM_139241.3(FGD4):c.435C>T (p.Asp145=)
|
rs904582 |
NM_139241.3(FGD4):c.732G>A (p.Ser244=)
|
rs34555341 |
NM_139241.3(FGD4):c.836+10G>T
|
rs41276676 |
NM_139241.3(FGD4):c.993+8G>A
|
rs12823621 |
NM_170707.4(LMNA):c.-88G>T
|
rs115800510 |
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058 |
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812 |
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641 |
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880 |
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668 |
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552 |
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444 |
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809 |
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089 |
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
|